,Unnamed: 0.6,Unnamed: 0.5,Unnamed: 0.4,Unnamed: 0.3,Unnamed: 0.2,Unnamed: 0.1,Unnamed: 0,id,name,source,type,Inter_ID
0,0,0,0,0,0,0,0,3922,Spurred humeral metaphysis,HPO,phenotype,PHENOTYPE_0
1,1,1,1,1,1,1,1,31283,Tufted hairs,HPO,phenotype,PHENOTYPE_1
2,2,2,2,2,2,2,2,34254,Face of the giant panda sign,HPO,phenotype,PHENOTYPE_2
3,3,3,3,3,3,3,3,9992,Complete duplication of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_3
4,4,4,4,4,4,4,4,34193,Stratum basale cleavage,HPO,phenotype,PHENOTYPE_4
5,5,5,5,5,5,5,5,33955,Cortical radial artery leukocyte hypercellularity,HPO,phenotype,PHENOTYPE_5
6,6,6,6,6,6,6,6,2314,Degeneration of the lateral corticospinal tracts,HPO,phenotype,PHENOTYPE_6
7,7,7,7,7,7,7,7,678,Dental crowding,HPO,phenotype,PHENOTYPE_7
8,8,8,8,8,8,8,8,34512,Transitional-cell carcinoma of the ureter,HPO,phenotype,PHENOTYPE_8
9,9,9,9,9,9,9,9,25271,Esophageal spasms,HPO,phenotype,PHENOTYPE_9
10,10,10,10,10,10,10,10,8288,Nonketotic hyperglycinemia,HPO,phenotype,PHENOTYPE_10
11,11,11,11,11,11,11,11,4322,Short stature,HPO,phenotype,PHENOTYPE_11
12,12,12,12,12,12,12,12,430135,Abnormal circulating hepatic transaminase concentration,HPO,phenotype,PHENOTYPE_12
13,13,13,13,13,13,13,13,391,Thickened helices,HPO,phenotype,PHENOTYPE_13
14,14,14,14,14,14,14,14,7021,Pain insensitivity,HPO,phenotype,PHENOTYPE_14
15,15,15,15,15,15,15,15,2715,Abnormality of the immune system,HPO,phenotype,PHENOTYPE_15
16,16,16,16,16,16,16,16,33400,Acute abdomen,HPO,phenotype,PHENOTYPE_16
17,17,17,17,17,17,17,17,8905,Rhizomelia,HPO,phenotype,PHENOTYPE_17
18,18,18,18,18,18,18,18,8433,Reversed usual vertebral column curves,HPO,phenotype,PHENOTYPE_18
19,19,19,19,19,19,19,19,12353,Decreased fucosylation of N-linked protein glycosylation,HPO,phenotype,PHENOTYPE_19
20,20,20,20,20,20,20,20,32487,Reduced fecal osmolality,HPO,phenotype,PHENOTYPE_20
21,21,21,21,21,21,21,21,30320,Increased intervertebral space,HPO,phenotype,PHENOTYPE_21
22,22,22,22,22,22,22,22,5157,Concentric hypertrophic cardiomyopathy,HPO,phenotype,PHENOTYPE_22
23,23,23,23,23,23,23,23,5945,Laryngeal obstruction,HPO,phenotype,PHENOTYPE_23
24,24,24,24,24,24,24,24,2549,Deficit in phonologic short-term memory,HPO,phenotype,PHENOTYPE_24
25,25,25,25,25,25,25,25,10208,Patchy sclerosis of proximal toe phalanx,HPO,phenotype,PHENOTYPE_25
26,26,26,26,26,26,26,26,20181,Reduced haptoglobin level,HPO,phenotype,PHENOTYPE_26
27,27,27,27,27,27,27,27,40239,Increased plasma vitamin K epoxide after vitamin K supplementation,HPO,phenotype,PHENOTYPE_27
28,28,28,28,28,28,28,28,40242,Muscle hemorrhage,HPO,phenotype,PHENOTYPE_28
29,29,29,29,29,29,29,29,100686,Enthesitis,HPO,phenotype,PHENOTYPE_29
30,30,30,30,30,30,30,30,3000027,Abnormality of buccinator muscle,HPO,phenotype,PHENOTYPE_30
31,31,31,31,31,31,31,31,25022,Decreased erythrocyte sedimentation rate,HPO,phenotype,PHENOTYPE_31
32,32,32,32,32,32,32,32,32469,Anti-asialoglycoprotein receptor antibody positivity,HPO,phenotype,PHENOTYPE_32
33,33,33,33,33,33,33,33,31640,Abnormal radial artery morphology,HPO,phenotype,PHENOTYPE_33
34,34,34,34,34,34,34,34,25156,Dependency on intravenous nutrition,HPO,phenotype,PHENOTYPE_34
35,35,35,35,35,35,35,35,40332,Multifocal hypointensity of cerebral white matter on MRI,HPO,phenotype,PHENOTYPE_35
36,36,36,36,36,36,36,36,32208,Increased urinary type 1 collagen N-terminal telopeptide level,HPO,phenotype,PHENOTYPE_36
37,37,37,37,37,37,37,37,6872,Cerebral hypoplasia,HPO,phenotype,PHENOTYPE_37
38,38,38,38,38,38,38,38,7585,Skin fragility with non-scarring blistering,HPO,phenotype,PHENOTYPE_38
39,39,39,39,39,39,39,39,25126,Oral hairy leukoplakia,HPO,phenotype,PHENOTYPE_39
40,40,40,40,40,40,40,40,2242,Abnormal intestine morphology,HPO,phenotype,PHENOTYPE_40
41,41,41,41,41,41,41,41,400001,Chin with vertical crease,HPO,phenotype,PHENOTYPE_41
42,42,42,42,42,42,42,42,9760,Antecubital pterygium,HPO,phenotype,PHENOTYPE_42
43,43,43,43,43,43,43,43,31963,Decreased serum anion gap,HPO,phenotype,PHENOTYPE_43
44,44,44,44,44,44,44,44,32722,Focal aware tonic seizure,HPO,phenotype,PHENOTYPE_44
45,45,45,45,45,45,45,45,6000317,Mosaic attenuation pattern in lung,HPO,phenotype,PHENOTYPE_45
46,46,46,46,46,46,46,46,30458,Abnormal timing of pattern onset/offset visual evoked potentials,HPO,phenotype,PHENOTYPE_46
47,47,47,47,47,47,47,47,20133,Podocyte hypertrophy,HPO,phenotype,PHENOTYPE_47
48,48,48,48,48,48,48,48,5200045,Reduced impulse control,HPO,phenotype,PHENOTYPE_48
49,49,49,49,49,49,49,49,34908,Increased circulating dehydroepiandrosterone concentration,HPO,phenotype,PHENOTYPE_49
50,50,50,50,50,50,50,50,5182,Bicuspid pulmonary valve,HPO,phenotype,PHENOTYPE_50
51,51,51,51,51,51,51,51,41174,Fractured distal finger phalanx,HPO,phenotype,PHENOTYPE_51
52,52,52,52,52,52,52,52,9989,Duplication of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_52
53,53,53,53,53,53,53,53,500202,Abnormal CSF arginine concentration,HPO,phenotype,PHENOTYPE_53
54,54,54,54,54,54,54,54,3417,Coronal cleft vertebrae,HPO,phenotype,PHENOTYPE_54
55,55,55,55,55,55,55,55,30594,Abnormal automated kinetic perimetry test,HPO,phenotype,PHENOTYPE_55
56,56,56,56,56,56,56,56,31066,Abnormal ovarian physiology,HPO,phenotype,PHENOTYPE_56
57,57,57,57,57,57,57,57,31800,Elevated circulating apolipoprotein A-II concentration,HPO,phenotype,PHENOTYPE_57
58,58,58,58,58,58,58,58,33013,Abnormal salivary cortisol level,HPO,phenotype,PHENOTYPE_58
59,59,59,59,59,59,59,59,1188,Hand clenching,HPO,phenotype,PHENOTYPE_59
60,60,60,60,60,60,60,60,7271,Occipital myelomeningocele,HPO,phenotype,PHENOTYPE_60
61,61,61,61,61,61,61,61,696,Delayed eruption of permanent teeth,HPO,phenotype,PHENOTYPE_61
62,62,62,62,62,62,62,62,32696,Focal cognitive seizure with receptive dysphasia/aphasia,HPO,phenotype,PHENOTYPE_62
63,63,63,63,63,63,63,63,30267,Calcification of the interosseus membrane of the forearm,HPO,phenotype,PHENOTYPE_63
64,64,64,64,64,64,64,64,10538,Small sella turcica,HPO,phenotype,PHENOTYPE_64
65,65,65,65,65,65,65,65,34769,Pulmonary Langerhans cell histiocytosis,HPO,phenotype,PHENOTYPE_65
66,66,66,66,66,66,66,66,12897,Abnormal upper-limb motor evoked potentials,HPO,phenotype,PHENOTYPE_66
67,67,67,67,67,67,67,67,31650,Abnormal atrioventricular valve physiology,HPO,phenotype,PHENOTYPE_67
68,68,68,68,68,68,68,68,1681,Angina pectoris,HPO,phenotype,PHENOTYPE_68
69,69,69,69,69,69,69,69,32214,Increased urinary transitional epithelial cell count,HPO,phenotype,PHENOTYPE_69
70,70,70,70,70,70,70,70,8605,Unilateral external ear deformity,HPO,phenotype,PHENOTYPE_70
71,71,71,71,71,71,71,71,1962,Palpitations,HPO,phenotype,PHENOTYPE_71
72,72,72,72,72,72,72,72,8187,Absence of secondary sex characteristics,HPO,phenotype,PHENOTYPE_72
73,73,73,73,73,73,73,73,31008,Lingual dystonia,HPO,phenotype,PHENOTYPE_73
74,74,74,74,74,74,74,74,31258,Delirium,HPO,phenotype,PHENOTYPE_74
75,75,75,75,75,75,75,75,1809,Split nail,HPO,phenotype,PHENOTYPE_75
76,76,76,76,76,76,76,76,34117,Anti-angiotensin-converting enzyme 2 antibody positivity,HPO,phenotype,PHENOTYPE_76
77,77,77,77,77,77,77,77,31367,Metaphyseal striations,HPO,phenotype,PHENOTYPE_77
78,78,78,78,78,78,78,78,9314,Symphalangism affecting the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_78
79,79,79,79,79,79,79,79,30297,Metaphyseal chondromatosis of ulna,HPO,phenotype,PHENOTYPE_79
80,80,80,80,80,80,80,80,40176,Abnormal circulating phospholipid concentration,HPO,phenotype,PHENOTYPE_80
81,81,81,81,81,81,81,81,35003,Reduced epidermal keratin 14 protein expression,HPO,phenotype,PHENOTYPE_81
82,82,82,82,82,82,82,82,32053,Focal cortical dysplasia type IIb,HPO,phenotype,PHENOTYPE_82
83,83,83,83,83,83,83,83,11235,Additional crus of antihelix,HPO,phenotype,PHENOTYPE_83
84,84,84,84,84,84,84,84,34850,Fetal cyclophosphamide exposure,HPO,phenotype,PHENOTYPE_84
85,85,85,85,85,85,85,85,31915,Stable,HPO,phenotype,PHENOTYPE_85
86,86,86,86,86,86,86,86,4000027,Anti-LAD-1 antibody positivity,HPO,phenotype,PHENOTYPE_86
87,87,87,87,87,87,87,87,100608,Metrorrhagia,HPO,phenotype,PHENOTYPE_87
88,88,88,88,88,88,88,88,500196,Abnormal CSF glutamine concentration,HPO,phenotype,PHENOTYPE_88
89,89,89,89,89,89,89,89,410350,Increased urinary fucosylated oligosaccharide,HPO,phenotype,PHENOTYPE_89
90,90,90,90,90,90,90,90,100489,Proximal/middle symphalangism of 2nd toe,HPO,phenotype,PHENOTYPE_90
91,91,91,91,91,91,91,91,12040,Corneal stromal edema,HPO,phenotype,PHENOTYPE_91
92,92,92,92,92,92,92,92,4901,Exercise-induced lactic acidemia,HPO,phenotype,PHENOTYPE_92
93,93,93,93,93,93,93,93,430118,Positive skin fungus test,HPO,phenotype,PHENOTYPE_93
94,94,94,94,94,94,94,94,1328,Specific learning disability,HPO,phenotype,PHENOTYPE_94
95,95,95,95,95,95,95,95,8695,Transient nephrotic syndrome,HPO,phenotype,PHENOTYPE_95
96,96,96,96,96,96,96,96,31221,Abnormal radioactive iodine uptake test result,HPO,phenotype,PHENOTYPE_96
97,97,97,97,97,97,97,97,33325,Elevated circulating sebacic acid concentration,HPO,phenotype,PHENOTYPE_97
98,98,98,98,98,98,98,98,529,Progressive visual loss,HPO,phenotype,PHENOTYPE_98
99,99,99,99,99,99,99,99,34160,Abnormal circulating interleukin 9 concentration,HPO,phenotype,PHENOTYPE_99
100,100,100,100,100,100,100,100,40101,Cutaneous atresia of the external auditory canal,HPO,phenotype,PHENOTYPE_100
101,101,101,101,101,101,101,101,11247,Prominent superior crus of antihelix,HPO,phenotype,PHENOTYPE_101
102,102,102,102,102,102,102,102,5200072,Immediate Echolalia,HPO,phenotype,PHENOTYPE_102
103,103,103,103,103,103,103,103,32164,Increased blood folate concentration,HPO,phenotype,PHENOTYPE_103
104,104,104,104,104,104,104,104,11837,Partial IgA deficiency,HPO,phenotype,PHENOTYPE_104
105,105,105,105,105,105,105,105,6000034,History of recent hospitalization,HPO,phenotype,PHENOTYPE_105
106,106,106,106,106,106,106,106,6000946,Transverse terminal lower limb defect,HPO,phenotype,PHENOTYPE_106
107,107,107,107,107,107,107,107,34383,Elevated circulating biliverdin concentration,HPO,phenotype,PHENOTYPE_107
108,108,108,108,108,108,108,108,30304,Abnormal number of vertebrae,HPO,phenotype,PHENOTYPE_108
109,109,109,109,109,109,109,109,31190,Superficial dermal perivascular inflammatory infiltrate,HPO,phenotype,PHENOTYPE_109
110,110,110,110,110,110,110,110,6000858,Muscle extensor surface location,HPO,phenotype,PHENOTYPE_110
111,111,111,111,111,111,111,111,3341,Lamina lucida cleavage,HPO,phenotype,PHENOTYPE_111
112,112,112,112,112,112,112,112,476,Cystic hygroma,HPO,phenotype,PHENOTYPE_112
113,113,113,113,113,113,113,113,33925,Renal arteriole lymphocyte endoarterial hypercellularity,HPO,phenotype,PHENOTYPE_113
114,114,114,114,114,114,114,114,100548,Exstrophy,HPO,phenotype,PHENOTYPE_114
115,115,115,115,115,115,115,115,12839,Distal,HPO,phenotype,PHENOTYPE_115
116,116,116,116,116,116,116,116,5200227,Thought blocking,HPO,phenotype,PHENOTYPE_116
117,117,117,117,117,117,117,117,6001111,Positive saliva rabies nucleic acid test,HPO,phenotype,PHENOTYPE_117
118,118,118,118,118,118,118,118,674,Anodontia,HPO,phenotype,PHENOTYPE_118
119,119,119,119,119,119,119,119,25665,Extremely preterm birth,HPO,phenotype,PHENOTYPE_119
120,120,120,120,120,120,120,120,6000351,Anti-coagulation factor antibody positivity,HPO,phenotype,PHENOTYPE_120
121,121,121,121,121,121,121,121,4251,Lunate-triquetral fusion,HPO,phenotype,PHENOTYPE_121
122,122,122,122,122,122,122,122,31189,Wrist drop,HPO,phenotype,PHENOTYPE_122
123,123,123,123,123,123,123,123,30019,Increased female libido,HPO,phenotype,PHENOTYPE_123
124,124,124,124,124,124,124,124,3246,Prominent scrotal raphe,HPO,phenotype,PHENOTYPE_124
125,125,125,125,125,125,125,125,5200421,Nihilistic delusion,HPO,phenotype,PHENOTYPE_125
126,126,126,126,126,126,126,126,30373,Abnormal proportion of memory B cells,HPO,phenotype,PHENOTYPE_126
127,127,127,127,127,127,127,127,11388,Enlarged cochlear aqueduct,HPO,phenotype,PHENOTYPE_127
128,128,128,128,128,128,128,128,100184,Fragmentation of the epiphysis of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_128
129,129,129,129,129,129,129,129,31494,Ovarian mucinous tumor,HPO,phenotype,PHENOTYPE_129
130,130,130,130,130,130,130,130,11926,Proximal placement of hallux,HPO,phenotype,PHENOTYPE_130
131,131,131,131,131,131,131,131,6000567,Elevated circulating oxalate concentration,HPO,phenotype,PHENOTYPE_131
132,132,132,132,132,132,132,132,9612,Duplication of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_132
133,133,133,133,133,133,133,133,32135,Decreased circulating IgG subclass concentration,HPO,phenotype,PHENOTYPE_133
134,134,134,134,134,134,134,134,19,Urinary hesitancy,HPO,phenotype,PHENOTYPE_134
135,135,135,135,135,135,135,135,6000596,Sixth cranial nerve hypoplasia,HPO,phenotype,PHENOTYPE_135
136,136,136,136,136,136,136,136,1137,Alternating esotropia,HPO,phenotype,PHENOTYPE_136
137,137,137,137,137,137,137,137,30645,Central,HPO,phenotype,PHENOTYPE_137
138,138,138,138,138,138,138,138,33288,Glomerular basement membrane spikes,HPO,phenotype,PHENOTYPE_138
139,139,139,139,139,139,139,139,5976,Hyperkalemic metabolic acidosis,HPO,phenotype,PHENOTYPE_139
140,140,140,140,140,140,140,140,6001003,"Elevated urine 4,5-dihydroxyhexanoic acid level",HPO,phenotype,PHENOTYPE_140
141,141,141,141,141,141,141,141,33988,Amygdala microinfarct,HPO,phenotype,PHENOTYPE_141
142,142,142,142,142,142,142,142,6000926,Anti-Treponema pallidum antibody positivity,HPO,phenotype,PHENOTYPE_142
143,143,143,143,143,143,143,143,9559,Bullet-shaped distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_143
144,144,144,144,144,144,144,144,3700,Generalized amyotrophy,HPO,phenotype,PHENOTYPE_144
145,145,145,145,145,145,145,145,10751,Dimple chin,HPO,phenotype,PHENOTYPE_145
146,146,146,146,146,146,146,146,10745,Aplasia of the phalanges of the toes,HPO,phenotype,PHENOTYPE_146
147,147,147,147,147,147,147,147,364,Hearing abnormality,HPO,phenotype,PHENOTYPE_147
148,148,148,148,148,148,148,148,2045,Hypothermia,HPO,phenotype,PHENOTYPE_148
149,149,149,149,149,149,149,149,5759,Small flat posterior fossa,HPO,phenotype,PHENOTYPE_149
150,150,150,150,150,150,150,150,20200,Increased circulating 18-hydroxycortisone level,HPO,phenotype,PHENOTYPE_150
151,151,151,151,151,151,151,151,6000265,Elevated urinary 3-hydroxykynurenine level,HPO,phenotype,PHENOTYPE_151
152,152,152,152,152,152,152,152,2909,Generalized aminoaciduria,HPO,phenotype,PHENOTYPE_152
153,153,153,153,153,153,153,153,30575,Pinhole visual acuity 0.7 LogMAR,HPO,phenotype,PHENOTYPE_153
154,154,154,154,154,154,154,154,12137,Abnormal number of granulocyte precursors,HPO,phenotype,PHENOTYPE_154
155,155,155,155,155,155,155,155,25511,Nevus sebaceus,HPO,phenotype,PHENOTYPE_155
156,156,156,156,156,156,156,156,10630,Abnormal metatarsal epiphysis morphology,HPO,phenotype,PHENOTYPE_156
157,157,157,157,157,157,157,157,200043,Verrucae,HPO,phenotype,PHENOTYPE_157
158,158,158,158,158,158,158,158,2211,White forelock,HPO,phenotype,PHENOTYPE_158
159,159,159,159,159,159,159,159,33851,Oculomotor synkinesis,HPO,phenotype,PHENOTYPE_159
160,160,160,160,160,160,160,160,3121,Limb joint contracture,HPO,phenotype,PHENOTYPE_160
161,161,161,161,161,161,161,161,4950,Peripheral arterial stenosis,HPO,phenotype,PHENOTYPE_161
162,162,162,162,162,162,162,162,10052,Abnormal morphology of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_162
163,163,163,163,163,163,163,163,2421,Poor head control,HPO,phenotype,PHENOTYPE_163
164,164,164,164,164,164,164,164,40320,Red-brown urine,HPO,phenotype,PHENOTYPE_164
165,165,165,165,165,165,165,165,33702,Subpleural curvilinear line,HPO,phenotype,PHENOTYPE_165
166,166,166,166,166,166,166,166,31791,Lenticular astigmatism,HPO,phenotype,PHENOTYPE_166
167,167,167,167,167,167,167,167,34343,Requires heterozygosity,HPO,phenotype,PHENOTYPE_167
168,168,168,168,168,168,168,168,6000597,Third cranial nerve hypoplasia,HPO,phenotype,PHENOTYPE_168
169,169,169,169,169,169,169,169,32762,Focal autonomic seizure with pallor/flushing,HPO,phenotype,PHENOTYPE_169
170,170,170,170,170,170,170,170,25027,Osteoma cutis,HPO,phenotype,PHENOTYPE_170
171,171,171,171,171,171,171,171,33666,Diminished physical functioning,HPO,phenotype,PHENOTYPE_171
172,172,172,172,172,172,172,172,7634,Nonarteritic anterior ischemic optic neuropathy,HPO,phenotype,PHENOTYPE_172
173,173,173,173,173,173,173,173,40310,Sterile arthritis,HPO,phenotype,PHENOTYPE_173
174,174,174,174,174,174,174,174,30259,Hypopigmented genitalia,HPO,phenotype,PHENOTYPE_174
175,175,175,175,175,175,175,175,12830,Position,HPO,phenotype,PHENOTYPE_175
176,176,176,176,176,176,176,176,5665,Massively thickened long bone cortices,HPO,phenotype,PHENOTYPE_176
177,177,177,177,177,177,177,177,200032,Kayser-Fleischer ring,HPO,phenotype,PHENOTYPE_177
178,178,178,178,178,178,178,178,31830,Pinguecula,HPO,phenotype,PHENOTYPE_178
179,179,179,179,179,179,179,179,32386,Elevated circulating transferrin concentration,HPO,phenotype,PHENOTYPE_179
180,180,180,180,180,180,180,180,8251,Congenital goiter,HPO,phenotype,PHENOTYPE_180
181,181,181,181,181,181,181,181,31844,Euphoria,HPO,phenotype,PHENOTYPE_181
182,182,182,182,182,182,182,182,30712,Uterine synechiae,HPO,phenotype,PHENOTYPE_182
183,183,183,183,183,183,183,183,31160,Myelokathexis,HPO,phenotype,PHENOTYPE_183
184,184,184,184,184,184,184,184,33155,Elevated circulating L-alloisoleucine concentration,HPO,phenotype,PHENOTYPE_184
185,185,185,185,185,185,185,185,410324,Dust mite allergy,HPO,phenotype,PHENOTYPE_185
186,186,186,186,186,186,186,186,32381,Hydroa vacciniforme,HPO,phenotype,PHENOTYPE_186
187,187,187,187,187,187,187,187,8677,Congenital nephrotic syndrome,HPO,phenotype,PHENOTYPE_187
188,188,188,188,188,188,188,188,9613,Duplication of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_188
189,189,189,189,189,189,189,189,25663,Reduced fetal femur/foot length ratio,HPO,phenotype,PHENOTYPE_189
190,190,190,190,190,190,190,190,9758,Pyramidal skinfold extending from the base to the top of the nails,HPO,phenotype,PHENOTYPE_190
191,191,191,191,191,191,191,191,12352,Abnormal fucosylation of protein N-linked glycosylation,HPO,phenotype,PHENOTYPE_191
192,192,192,192,192,192,192,192,100640,Laryngeal cyst,HPO,phenotype,PHENOTYPE_192
193,193,193,193,193,193,193,193,6000931,Calcified pulmonary nodule,HPO,phenotype,PHENOTYPE_193
194,194,194,194,194,194,194,194,8775,Abnormal prostate morphology,HPO,phenotype,PHENOTYPE_194
195,195,195,195,195,195,195,195,1571,Multiple impacted teeth,HPO,phenotype,PHENOTYPE_195
196,196,196,196,196,196,196,196,982,Palmoplantar keratoderma,HPO,phenotype,PHENOTYPE_196
197,197,197,197,197,197,197,197,34324,Brachiocephalic artery aneurysm,HPO,phenotype,PHENOTYPE_197
198,198,198,198,198,198,198,198,41233,Fractured ilium,HPO,phenotype,PHENOTYPE_198
199,199,199,199,199,199,199,199,668,Hypodontia,HPO,phenotype,PHENOTYPE_199
200,200,200,200,200,200,200,200,34752,Axillary lymphadenopathy,HPO,phenotype,PHENOTYPE_200
201,201,201,201,201,201,201,201,34338,Imprinted,HPO,phenotype,PHENOTYPE_201
202,202,202,202,202,202,202,202,10812,Short uvula,HPO,phenotype,PHENOTYPE_202
203,203,203,203,203,203,203,203,25196,Increased total iron binding capacity,HPO,phenotype,PHENOTYPE_203
204,204,204,204,204,204,204,204,10086,Broad proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_204
205,205,205,205,205,205,205,205,31536,Separate origin of the left anterior descending and left circumflex artery,HPO,phenotype,PHENOTYPE_205
206,206,206,206,206,206,206,206,500093,Food allergy,HPO,phenotype,PHENOTYPE_206
207,207,207,207,207,207,207,207,100784,Peripheral arteriovenous fistula,HPO,phenotype,PHENOTYPE_207
208,208,208,208,208,208,208,208,7610,Blotching pigmentation of the skin,HPO,phenotype,PHENOTYPE_208
209,209,209,209,209,209,209,209,2642,Arteriovenous fistulas of celiac and mesenteric vessels,HPO,phenotype,PHENOTYPE_209
210,210,210,210,210,210,210,210,2946,Supernumerary vertebrae,HPO,phenotype,PHENOTYPE_210
211,211,211,211,211,211,211,211,9568,Aplasia/Hypoplasia of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_211
212,212,212,212,212,212,212,212,31547,Abnormal QT interval,HPO,phenotype,PHENOTYPE_212
213,213,213,213,213,213,213,213,20107,Unusual helminthic infection,HPO,phenotype,PHENOTYPE_213
214,214,214,214,214,214,214,214,34414,Thick oral frenulum,HPO,phenotype,PHENOTYPE_214
215,215,215,215,215,215,215,215,25381,Anti-pituitary antibody positivity,HPO,phenotype,PHENOTYPE_215
216,216,216,216,216,216,216,216,6152,Proximal symphalangism of hands,HPO,phenotype,PHENOTYPE_216
217,217,217,217,217,217,217,217,10693,Pulverulent cataract,HPO,phenotype,PHENOTYPE_217
218,218,218,218,218,218,218,218,8373,Puberty and gonadal disorders,HPO,phenotype,PHENOTYPE_218
219,219,219,219,219,219,219,219,7929,Peripheral retinal detachment,HPO,phenotype,PHENOTYPE_219
220,220,220,220,220,220,220,220,31545,Abnormally low T cell receptor excision circle level,HPO,phenotype,PHENOTYPE_220
221,221,221,221,221,221,221,221,9754,Fibrous syngnathia,HPO,phenotype,PHENOTYPE_221
222,222,222,222,222,222,222,222,33135,Hepatic infarction,HPO,phenotype,PHENOTYPE_222
223,223,223,223,223,223,223,223,100416,Partial duplication of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_223
224,224,224,224,224,224,224,224,11857,Plasmacytoma,HPO,phenotype,PHENOTYPE_224
225,225,225,225,225,225,225,225,20219,Motor seizure,HPO,phenotype,PHENOTYPE_225
226,226,226,226,226,226,226,226,12806,Proboscis,HPO,phenotype,PHENOTYPE_226
227,227,227,227,227,227,227,227,11071,Abnormal permanent molar morphology,HPO,phenotype,PHENOTYPE_227
228,228,228,228,228,228,228,228,32746,Focal impaired awareness emotional seizure,HPO,phenotype,PHENOTYPE_228
229,229,229,229,229,229,229,229,10711,1-2 toe syndactyly,HPO,phenotype,PHENOTYPE_229
230,230,230,230,230,230,230,230,6000041,Repeated cold water exposure,HPO,phenotype,PHENOTYPE_230
231,231,231,231,231,231,231,231,6000637,Sweating and flushing in the preauricular area in response to mastication,HPO,phenotype,PHENOTYPE_231
232,232,232,232,232,232,232,232,10002,Complete duplication of the middle phalanges of the hand,HPO,phenotype,PHENOTYPE_232
233,233,233,233,233,233,233,233,25613,Focal emotional seizure,HPO,phenotype,PHENOTYPE_233
234,234,234,234,234,234,234,234,11886,Hyphema,HPO,phenotype,PHENOTYPE_234
235,235,235,235,235,235,235,235,12538,Gluten intolerance,HPO,phenotype,PHENOTYPE_235
236,236,236,236,236,236,236,236,100572,Fibrous cardiac diverticulum,HPO,phenotype,PHENOTYPE_236
237,237,237,237,237,237,237,237,6437,Disproportionate prominence of the femoral medial condyle,HPO,phenotype,PHENOTYPE_237
238,238,238,238,238,238,238,238,7187,Focal lissencephaly,HPO,phenotype,PHENOTYPE_238
239,239,239,239,239,239,239,239,30864,Intercostal retractions,HPO,phenotype,PHENOTYPE_239
240,240,240,240,240,240,240,240,33033,Anti-MDA5 antibody positivity,HPO,phenotype,PHENOTYPE_240
241,241,241,241,241,241,241,241,12881,Abnormal labia majora morphology,HPO,phenotype,PHENOTYPE_241
242,242,242,242,242,242,242,242,1635,Congestive heart failure,HPO,phenotype,PHENOTYPE_242
243,243,243,243,243,243,243,243,3481,Segmental peripheral demyelination/remyelination,HPO,phenotype,PHENOTYPE_243
244,244,244,244,244,244,244,244,11891,Post-partum hemorrhage,HPO,phenotype,PHENOTYPE_244
245,245,245,245,245,245,245,245,100499,Tibial deviation of toes,HPO,phenotype,PHENOTYPE_245
246,246,246,246,246,246,246,246,30236,Abnormality of muscle size,HPO,phenotype,PHENOTYPE_246
247,247,247,247,247,247,247,247,3641,Hemoglobinuria,HPO,phenotype,PHENOTYPE_247
248,248,248,248,248,248,248,248,6000515,Elevated 18-hydroxycorticosterone to aldosterone ratio,HPO,phenotype,PHENOTYPE_248
249,249,249,249,249,249,249,249,31038,Spermatogenesis maturation arrest,HPO,phenotype,PHENOTYPE_249
250,250,250,250,250,250,250,250,6000721,Decreased circulating pancreatic isoamylase activity,HPO,phenotype,PHENOTYPE_250
251,251,251,251,251,251,251,251,30464,Asymmetrical distribution of pattern reversal visual evoked potentials,HPO,phenotype,PHENOTYPE_251
252,252,252,252,252,252,252,252,6000522,Reduced circulating lipoprotein(a) concentration,HPO,phenotype,PHENOTYPE_252
253,253,253,253,253,253,253,253,778,Hypoplasia of the thymus,HPO,phenotype,PHENOTYPE_253
254,254,254,254,254,254,254,254,4032,Abnormal olecranon morphology,HPO,phenotype,PHENOTYPE_254
255,255,255,255,255,255,255,255,742,Self-mutilation,HPO,phenotype,PHENOTYPE_255
256,256,256,256,256,256,256,256,9751,Aplasia of the pectoralis major muscle,HPO,phenotype,PHENOTYPE_256
257,257,257,257,257,257,257,257,6000238,Elevated CSF 5-amino-4-imidazolecarboxyamide concentration,HPO,phenotype,PHENOTYPE_257
258,258,258,258,258,258,258,258,11401,Delayed peripheral myelination,HPO,phenotype,PHENOTYPE_258
259,259,259,259,259,259,259,259,7311,Short stepped shuffling gait,HPO,phenotype,PHENOTYPE_259
260,260,260,260,260,260,260,260,11360,Acquired abnormal hair pattern,HPO,phenotype,PHENOTYPE_260
261,261,261,261,261,261,261,261,11595,Left aortic arch with retroesophageal right subclavian artery,HPO,phenotype,PHENOTYPE_261
262,262,262,262,262,262,262,262,31032,Decreased retinol-binding protein level,HPO,phenotype,PHENOTYPE_262
263,263,263,263,263,263,263,263,30607,Reduced OCT-measured macular thickness,HPO,phenotype,PHENOTYPE_263
264,264,264,264,264,264,264,264,500141,Hypophenylalaninemia,HPO,phenotype,PHENOTYPE_264
265,265,265,265,265,265,265,265,5523,Lymphoproliferative disorder,HPO,phenotype,PHENOTYPE_265
266,266,266,266,266,266,266,266,31732,Increased basal tear production,HPO,phenotype,PHENOTYPE_266
267,267,267,267,267,267,267,267,32842,Generalized-onset epileptic spasm,HPO,phenotype,PHENOTYPE_267
268,268,268,268,268,268,268,268,3329,Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes,HPO,phenotype,PHENOTYPE_268
269,269,269,269,269,269,269,269,10223,Pseudoepiphysis of the 3rd metacarpal,HPO,phenotype,PHENOTYPE_269
270,270,270,270,270,270,270,270,31972,Presyncope,HPO,phenotype,PHENOTYPE_270
271,271,271,271,271,271,271,271,6000472,Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells,HPO,phenotype,PHENOTYPE_271
272,272,272,272,272,272,272,272,20129,Abnormal urine protein level,HPO,phenotype,PHENOTYPE_272
273,273,273,273,273,273,273,273,12710,Ingrown nail,HPO,phenotype,PHENOTYPE_273
274,274,274,274,274,274,274,274,410022,Vaginal fish odor,HPO,phenotype,PHENOTYPE_274
275,275,275,275,275,275,275,275,10854,EEG with generalized low amplitude activity,HPO,phenotype,PHENOTYPE_275
276,276,276,276,276,276,276,276,31111,Cutaneous hamartoma,HPO,phenotype,PHENOTYPE_276
277,277,277,277,277,277,277,277,34341,Pseudoautosomal recessive inheritance,HPO,phenotype,PHENOTYPE_277
278,278,278,278,278,278,278,278,10427,Partial duplication of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_278
279,279,279,279,279,279,279,279,2018,Nausea,HPO,phenotype,PHENOTYPE_279
280,280,280,280,280,280,280,280,30863,Nasal flaring,HPO,phenotype,PHENOTYPE_280
281,281,281,281,281,281,281,281,30933,1-minute APGAR score of 6,HPO,phenotype,PHENOTYPE_281
282,282,282,282,282,282,282,282,30064,Neurocytoma,HPO,phenotype,PHENOTYPE_282
283,283,283,283,283,283,283,283,410396,"Increased proportion of central memory CD8-positive, alpha-beta T cells",HPO,phenotype,PHENOTYPE_283
284,284,284,284,284,284,284,284,11378,Hypoplasia of the vestibule of the inner ear,HPO,phenotype,PHENOTYPE_284
285,285,285,285,285,285,285,285,3194,Short nasal bridge,HPO,phenotype,PHENOTYPE_285
286,286,286,286,286,286,286,286,12001,EEG with generalized polyspikes,HPO,phenotype,PHENOTYPE_286
287,287,287,287,287,287,287,287,34774,Decreased blink rate,HPO,phenotype,PHENOTYPE_287
288,288,288,288,288,288,288,288,6000021,Decreased circulating thrombopoietin concentration,HPO,phenotype,PHENOTYPE_288
289,289,289,289,289,289,289,289,11050,Agenesis of permanent maxillary lateral incisor,HPO,phenotype,PHENOTYPE_289
290,290,290,290,290,290,290,290,2335,Agenesis of cerebellar vermis,HPO,phenotype,PHENOTYPE_290
291,291,291,291,291,291,291,291,6256,Abnormality of hand joint mobility,HPO,phenotype,PHENOTYPE_291
292,292,292,292,292,292,292,292,33190,Hypertrichotic hyperpigmented patch,HPO,phenotype,PHENOTYPE_292
293,293,293,293,293,293,293,293,6000231,Abnormal tissue enzyme concentration or activity,HPO,phenotype,PHENOTYPE_293
294,294,294,294,294,294,294,294,31180,Erythema migrans,HPO,phenotype,PHENOTYPE_294
295,295,295,295,295,295,295,295,33856,Cholesterol emboli within interlobular vein lumen,HPO,phenotype,PHENOTYPE_295
296,296,296,296,296,296,296,296,30662,Vitreous inflammatory cells,HPO,phenotype,PHENOTYPE_296
297,297,297,297,297,297,297,297,12767,Abnormal placental size,HPO,phenotype,PHENOTYPE_297
298,298,298,298,298,298,298,298,12169,Self-biting,HPO,phenotype,PHENOTYPE_298
299,299,299,299,299,299,299,299,5917,Supernumerary metacarpal bones,HPO,phenotype,PHENOTYPE_299
300,300,300,300,300,300,300,300,6000286,Focal T1 hyperintense brainstem lesion,HPO,phenotype,PHENOTYPE_300
301,301,301,301,301,301,301,301,31340,Abnormal lysosomal morphology,HPO,phenotype,PHENOTYPE_301
302,302,302,302,302,302,302,302,597,Ophthalmoparesis,HPO,phenotype,PHENOTYPE_302
303,303,303,303,303,303,303,303,32894,Seizure precipitated by febrile infection,HPO,phenotype,PHENOTYPE_303
304,304,304,304,304,304,304,304,100563,Diastomatomyelia,HPO,phenotype,PHENOTYPE_304
305,305,305,305,305,305,305,305,11495,Abnormal corneal epithelium morphology,HPO,phenotype,PHENOTYPE_305
306,306,306,306,306,306,306,306,8407,Hyperconvex thumb nails,HPO,phenotype,PHENOTYPE_306
307,307,307,307,307,307,307,307,100131,Stippling of the epiphysis of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_307
308,308,308,308,308,308,308,308,40032,Hypoplasia of the upper eyelids,HPO,phenotype,PHENOTYPE_308
309,309,309,309,309,309,309,309,5792,Short humerus,HPO,phenotype,PHENOTYPE_309
310,310,310,310,310,310,310,310,25357,Erratic myoclonus,HPO,phenotype,PHENOTYPE_310
311,311,311,311,311,311,311,311,31847,Difficulty walking backward,HPO,phenotype,PHENOTYPE_311
312,312,312,312,312,312,312,312,12099,Abnormality of circulating catecholamine level,HPO,phenotype,PHENOTYPE_312
313,313,313,313,313,313,313,313,1593,Maxillary lateral incisor microdontia,HPO,phenotype,PHENOTYPE_313
314,314,314,314,314,314,314,314,100192,Bracket epiphysis of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_314
315,315,315,315,315,315,315,315,1227,Abnormality of the thenar eminence,HPO,phenotype,PHENOTYPE_315
316,316,316,316,316,316,316,316,6166,Tubular metacarpal bones,HPO,phenotype,PHENOTYPE_316
317,317,317,317,317,317,317,317,12148,Multiple lineage myelodysplasia,HPO,phenotype,PHENOTYPE_317
318,318,318,318,318,318,318,318,25473,Hyperpigmented papule,HPO,phenotype,PHENOTYPE_318
319,319,319,319,319,319,319,319,11233,Antihelical shelf,HPO,phenotype,PHENOTYPE_319
320,320,320,320,320,320,320,320,40413,Atrophic vaginal mucosa,HPO,phenotype,PHENOTYPE_320
321,321,321,321,321,321,321,321,33497,Tip variant segmental glomerulosclerosis,HPO,phenotype,PHENOTYPE_321
322,322,322,322,322,322,322,322,2514,Cerebral calcification,HPO,phenotype,PHENOTYPE_322
323,323,323,323,323,323,323,323,3262,Anti-smooth muscle antibody positivity,HPO,phenotype,PHENOTYPE_323
324,324,324,324,324,324,324,324,4000103,Ameliorated by oral zinc supplementation,HPO,phenotype,PHENOTYPE_324
325,325,325,325,325,325,325,325,100353,Contracture of the distal interphalangeal joint of the 3rd toe,HPO,phenotype,PHENOTYPE_325
326,326,326,326,326,326,326,326,4695,Calcaneal epiphyseal stippling,HPO,phenotype,PHENOTYPE_326
327,327,327,327,327,327,327,327,5775,Multiple skeletal anomalies,HPO,phenotype,PHENOTYPE_327
328,328,328,328,328,328,328,328,34122,Anti-GQ1b antibody positivity,HPO,phenotype,PHENOTYPE_328
329,329,329,329,329,329,329,329,3264,Deficiency of N-acetylglucosamine-1-phosphotransferase,HPO,phenotype,PHENOTYPE_329
330,330,330,330,330,330,330,330,41048,Decreased expression of GPI-anchored proteins on the cell surface,HPO,phenotype,PHENOTYPE_330
331,331,331,331,331,331,331,331,100871,Abnormal palm morphology,HPO,phenotype,PHENOTYPE_331
332,332,332,332,332,332,332,332,3919,Sclerotic humeral metaphysis with longitudinal striations,HPO,phenotype,PHENOTYPE_332
333,333,333,333,333,333,333,333,6000118,Elevated urinary dihydrouracil level,HPO,phenotype,PHENOTYPE_333
334,334,334,334,334,334,334,334,34919,"Reduced liver 2,4-dienoyl-CoA reductase activity",HPO,phenotype,PHENOTYPE_334
335,335,335,335,335,335,335,335,9413,Enlarged epiphyses of the 3rd finger,HPO,phenotype,PHENOTYPE_335
336,336,336,336,336,336,336,336,100261,Abnormal tendon morphology,HPO,phenotype,PHENOTYPE_336
337,337,337,337,337,337,337,337,6001176,Radial nerve distribution,HPO,phenotype,PHENOTYPE_337
338,338,338,338,338,338,338,338,7716,Uveal melanoma,HPO,phenotype,PHENOTYPE_338
339,339,339,339,339,339,339,339,6000671,Breast myxoma,HPO,phenotype,PHENOTYPE_339
340,340,340,340,340,340,340,340,4059,Radial club hand,HPO,phenotype,PHENOTYPE_340
341,341,341,341,341,341,341,341,41175,Fractured middle phalanx of pes,HPO,phenotype,PHENOTYPE_341
342,342,342,342,342,342,342,342,31264,Abnormal Bowman capsule morphology,HPO,phenotype,PHENOTYPE_342
343,343,343,343,343,343,343,343,33775,Pulmonary imaging sign,HPO,phenotype,PHENOTYPE_343
344,344,344,344,344,344,344,344,3075,Hypoproteinemia,HPO,phenotype,PHENOTYPE_344
345,345,345,345,345,345,345,345,30603,Abnormal optical coherence tomography,HPO,phenotype,PHENOTYPE_345
346,346,346,346,346,346,346,346,10866,Abdominal wall defect,HPO,phenotype,PHENOTYPE_346
347,347,347,347,347,347,347,347,100894,Broad xiphoid process,HPO,phenotype,PHENOTYPE_347
348,348,348,348,348,348,348,348,11858,Reduced factor IX activity,HPO,phenotype,PHENOTYPE_348
349,349,349,349,349,349,349,349,3249,Genital ulcers,HPO,phenotype,PHENOTYPE_349
350,350,350,350,350,350,350,350,9150,Abnormality of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_350
351,351,351,351,351,351,351,351,8221,Adrenal hyperplasia,HPO,phenotype,PHENOTYPE_351
352,352,352,352,352,352,352,352,11993,Impaired neutrophil bactericidal activity,HPO,phenotype,PHENOTYPE_352
353,353,353,353,353,353,353,353,32157,Recurrent genital herpes,HPO,phenotype,PHENOTYPE_353
354,354,354,354,354,354,354,354,7506,Congenital absence of skin of limbs,HPO,phenotype,PHENOTYPE_354
355,355,355,355,355,355,355,355,10656,Abnormal epiphyseal ossification,HPO,phenotype,PHENOTYPE_355
356,356,356,356,356,356,356,356,4012,Premature fusion of the radial epiphyseal plates,HPO,phenotype,PHENOTYPE_356
357,357,357,357,357,357,357,357,40294,Duplicated tongue,HPO,phenotype,PHENOTYPE_357
358,358,358,358,358,358,358,358,30163,Abnormal vascular physiology,HPO,phenotype,PHENOTYPE_358
359,359,359,359,359,359,359,359,500261,Triggered by anesthetics,HPO,phenotype,PHENOTYPE_359
360,360,360,360,360,360,360,360,12489,Suprasellar arachnoid cyst,HPO,phenotype,PHENOTYPE_360
361,361,361,361,361,361,361,361,12150,Single lineage myelodysplasia,HPO,phenotype,PHENOTYPE_361
362,362,362,362,362,362,362,362,8726,Hypoplasia of the vagina,HPO,phenotype,PHENOTYPE_362
363,363,363,363,363,363,363,363,12652,Exercise-induced asthma,HPO,phenotype,PHENOTYPE_363
364,364,364,364,364,364,364,364,2444,Hypothalamic hamartoma,HPO,phenotype,PHENOTYPE_364
365,365,365,365,365,365,365,365,10233,Irregular epiphyses of the phalanges of the hand,HPO,phenotype,PHENOTYPE_365
366,366,366,366,366,366,366,366,25179,Ground-glass opacification,HPO,phenotype,PHENOTYPE_366
367,367,367,367,367,367,367,367,500056,Retinopathy of prematurity stage 5,HPO,phenotype,PHENOTYPE_367
368,368,368,368,368,368,368,368,10045,Aplasia/Hypoplasia of the 5th metacarpal,HPO,phenotype,PHENOTYPE_368
369,369,369,369,369,369,369,369,100298,Motheaten muscle fibers,HPO,phenotype,PHENOTYPE_369
370,370,370,370,370,370,370,370,1674,Complete atrioventricular canal defect,HPO,phenotype,PHENOTYPE_370
371,371,371,371,371,371,371,371,74,Ureteropelvic junction obstruction,HPO,phenotype,PHENOTYPE_371
372,372,372,372,372,372,372,372,30988,Granulomatous cholangitis,HPO,phenotype,PHENOTYPE_372
373,373,373,373,373,373,373,373,100271,Hyponasal speech,HPO,phenotype,PHENOTYPE_373
374,374,374,374,374,374,374,374,7787,Posterior subcapsular cataract,HPO,phenotype,PHENOTYPE_374
375,375,375,375,375,375,375,375,4591,Disc-like vertebral bodies,HPO,phenotype,PHENOTYPE_375
376,376,376,376,376,376,376,376,33740,Grade V vesicoureteral reflux,HPO,phenotype,PHENOTYPE_376
377,377,377,377,377,377,377,377,30809,Abnormal tongue morphology,HPO,phenotype,PHENOTYPE_377
378,378,378,378,378,378,378,378,4476,Aplasia cutis congenita over parietal area,HPO,phenotype,PHENOTYPE_378
379,379,379,379,379,379,379,379,30879,Interlobular septal thickening,HPO,phenotype,PHENOTYPE_379
380,380,380,380,380,380,380,380,12643,Foveal hypopigmentation,HPO,phenotype,PHENOTYPE_380
381,381,381,381,381,381,381,381,7668,Impaired pursuit initiation and maintenance,HPO,phenotype,PHENOTYPE_381
382,382,382,382,382,382,382,382,7747,Monocular horizontal nystagmus,HPO,phenotype,PHENOTYPE_382
383,383,383,383,383,383,383,383,2657,Spondylometaphyseal dysplasia,HPO,phenotype,PHENOTYPE_383
384,384,384,384,384,384,384,384,851,Congenital hypothyroidism,HPO,phenotype,PHENOTYPE_384
385,385,385,385,385,385,385,385,11093,Molarization of premolar,HPO,phenotype,PHENOTYPE_385
386,386,386,386,386,386,386,386,3375,Narrow greater sciatic notch,HPO,phenotype,PHENOTYPE_386
387,387,387,387,387,387,387,387,31177,Finger flexor weakness,HPO,phenotype,PHENOTYPE_387
388,388,388,388,388,388,388,388,1601,Laryngomalacia,HPO,phenotype,PHENOTYPE_388
389,389,389,389,389,389,389,389,6001136,Femoral nerve distribution,HPO,phenotype,PHENOTYPE_389
390,390,390,390,390,390,390,390,12833,Unilateral,HPO,phenotype,PHENOTYPE_390
391,391,391,391,391,391,391,391,2987,Elbow flexion contracture,HPO,phenotype,PHENOTYPE_391
392,392,392,392,392,392,392,392,10616,Lung fibroma,HPO,phenotype,PHENOTYPE_392
393,393,393,393,393,393,393,393,410278,Pituitary gland cyst,HPO,phenotype,PHENOTYPE_393
394,394,394,394,394,394,394,394,139,Uterine prolapse,HPO,phenotype,PHENOTYPE_394
395,395,395,395,395,395,395,395,100395,Short proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_395
396,396,396,396,396,396,396,396,11451,Primary microcephaly,HPO,phenotype,PHENOTYPE_396
397,397,397,397,397,397,397,397,33612,Pure ground-glass pulmonary nodule,HPO,phenotype,PHENOTYPE_397
398,398,398,398,398,398,398,398,20251,Abnormal lymph node mantle zone morphology,HPO,phenotype,PHENOTYPE_398
399,399,399,399,399,399,399,399,1763,Pes planus,HPO,phenotype,PHENOTYPE_399
400,400,400,400,400,400,400,400,3398,Abnormal synaptic transmission at the neuromuscular junction,HPO,phenotype,PHENOTYPE_400
401,401,401,401,401,401,401,401,20241,Clustered lymph node epithelioid histiocytes,HPO,phenotype,PHENOTYPE_401
402,402,402,402,402,402,402,402,10265,Small epiphyses of the middle phalanges of the hand,HPO,phenotype,PHENOTYPE_402
403,403,403,403,403,403,403,403,4394,Multiple gastric polyps,HPO,phenotype,PHENOTYPE_403
404,404,404,404,404,404,404,404,7002,Motor axonal neuropathy,HPO,phenotype,PHENOTYPE_404
405,405,405,405,405,405,405,405,500226,Abnormal CSF serine concentration,HPO,phenotype,PHENOTYPE_405
406,406,406,406,406,406,406,406,32819,Neonatal bilateral clonic seizure,HPO,phenotype,PHENOTYPE_406
407,407,407,407,407,407,407,407,6000033,High altitude exposure,HPO,phenotype,PHENOTYPE_407
408,408,408,408,408,408,408,408,33287,Glomerular basement membrane lucencies,HPO,phenotype,PHENOTYPE_408
409,409,409,409,409,409,409,409,4415,Pulmonary artery stenosis,HPO,phenotype,PHENOTYPE_409
410,410,410,410,410,410,410,410,5237,Degenerative liver disease,HPO,phenotype,PHENOTYPE_410
411,411,411,411,411,411,411,411,10196,Bullet-shaped middle toe phalanx,HPO,phenotype,PHENOTYPE_411
412,412,412,412,412,412,412,412,410375,Increased proportion of naive CD4 T cells,HPO,phenotype,PHENOTYPE_412
413,413,413,413,413,413,413,413,6000852,Megacolon,HPO,phenotype,PHENOTYPE_413
414,414,414,414,414,414,414,414,410380,"Abnormal proportion of CD8-positive, alpha-beta memory T cells",HPO,phenotype,PHENOTYPE_414
415,415,415,415,415,415,415,415,3000020,Abnormality of zygomaticus minor muscle,HPO,phenotype,PHENOTYPE_415
416,416,416,416,416,416,416,416,34314,Abnormal left ventricular ejection fraction,HPO,phenotype,PHENOTYPE_416
417,417,417,417,417,417,417,417,11643,Coronary sinus atrial septal defect,HPO,phenotype,PHENOTYPE_417
418,418,418,418,418,418,418,418,12642,Cerebellar agenesis,HPO,phenotype,PHENOTYPE_418
419,419,419,419,419,419,419,419,12295,Slender middle phalanx of finger,HPO,phenotype,PHENOTYPE_419
420,420,420,420,420,420,420,420,5041,Irregular capital femoral epiphysis,HPO,phenotype,PHENOTYPE_420
421,421,421,421,421,421,421,421,11868,Sciatica,HPO,phenotype,PHENOTYPE_421
422,422,422,422,422,422,422,422,395,Prominent antihelix,HPO,phenotype,PHENOTYPE_422
423,423,423,423,423,423,423,423,10463,Aplasia of the ovary,HPO,phenotype,PHENOTYPE_423
424,424,424,424,424,424,424,424,1440,Metatarsal synostosis,HPO,phenotype,PHENOTYPE_424
425,425,425,425,425,425,425,425,25510,Nevus spilus,HPO,phenotype,PHENOTYPE_425
426,426,426,426,426,426,426,426,34742,Elevated urinary formiminoglutamic acid level,HPO,phenotype,PHENOTYPE_426
427,427,427,427,427,427,427,427,6000685,Mitral opening snap,HPO,phenotype,PHENOTYPE_427
428,428,428,428,428,428,428,428,8001,Foveal hyperpigmentation,HPO,phenotype,PHENOTYPE_428
429,429,429,429,429,429,429,429,33586,Cellular non-specific interstitial pneumonia,HPO,phenotype,PHENOTYPE_429
430,430,430,430,430,430,430,430,11739,Dexamethasone-suppressible primary hyperaldosteronism,HPO,phenotype,PHENOTYPE_430
431,431,431,431,431,431,431,431,34037,Pseudo-chilblains on fingers,HPO,phenotype,PHENOTYPE_431
432,432,432,432,432,432,432,432,4003,Medially flattened radial epiphyses,HPO,phenotype,PHENOTYPE_432
433,433,433,433,433,433,433,433,2034,Abnormal rectum morphology,HPO,phenotype,PHENOTYPE_433
434,434,434,434,434,434,434,434,410297,Partial absence of specific antibody response to tetanus vaccine,HPO,phenotype,PHENOTYPE_434
435,435,435,435,435,435,435,435,30885,Recurrent parasitic infections,HPO,phenotype,PHENOTYPE_435
436,436,436,436,436,436,436,436,33222,Decreased CD4:CD8 ratio,HPO,phenotype,PHENOTYPE_436
437,437,437,437,437,437,437,437,1302,Pachygyria,HPO,phenotype,PHENOTYPE_437
438,438,438,438,438,438,438,438,33427,Pulmonary capillary angioectasia,HPO,phenotype,PHENOTYPE_438
439,439,439,439,439,439,439,439,6000445,Elevated thallium concentration,HPO,phenotype,PHENOTYPE_439
440,440,440,440,440,440,440,440,9389,Pseudoepiphyses of the 5th finger,HPO,phenotype,PHENOTYPE_440
441,441,441,441,441,441,441,441,4000049,Segmental fracture,HPO,phenotype,PHENOTYPE_441
442,442,442,442,442,442,442,442,32628,Renal intratubular crystals,HPO,phenotype,PHENOTYPE_442
443,443,443,443,443,443,443,443,25348,Abnormal corneal limbus morphology,HPO,phenotype,PHENOTYPE_443
444,444,444,444,444,444,444,444,100201,Triangular epiphysis of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_444
445,445,445,445,445,445,445,445,7221,Progressive truncal ataxia,HPO,phenotype,PHENOTYPE_445
446,446,446,446,446,446,446,446,32264,Anti-NMDA receptor antibody positivity,HPO,phenotype,PHENOTYPE_446
447,447,447,447,447,447,447,447,122,Unilateral renal agenesis,HPO,phenotype,PHENOTYPE_447
448,448,448,448,448,448,448,448,7126,Proximal amyotrophy,HPO,phenotype,PHENOTYPE_448
449,449,449,449,449,449,449,449,32195,Abnormal S wave,HPO,phenotype,PHENOTYPE_449
450,450,450,450,450,450,450,450,9683,Small epiphysis of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_450
451,451,451,451,451,451,451,451,31307,Internal carotid artery calcification,HPO,phenotype,PHENOTYPE_451
452,452,452,452,452,452,452,452,5978,Type II diabetes mellitus,HPO,phenotype,PHENOTYPE_452
453,453,453,453,453,453,453,453,6000508,Anti-human ferritin peptide antibody positivity,HPO,phenotype,PHENOTYPE_453
454,454,454,454,454,454,454,454,12049,Laryngeal dystonia,HPO,phenotype,PHENOTYPE_454
455,455,455,455,455,455,455,455,10227,Pseudoepiphysis of the 5th metacarpal,HPO,phenotype,PHENOTYPE_455
456,456,456,456,456,456,456,456,7737,Bone spicule pigmentation of the retina,HPO,phenotype,PHENOTYPE_456
457,457,457,457,457,457,457,457,20195,IgG heavy chain paraproteinemia,HPO,phenotype,PHENOTYPE_457
458,458,458,458,458,458,458,458,4000170,Anti-platelet antigen antibody positivity,HPO,phenotype,PHENOTYPE_458
459,459,459,459,459,459,459,459,1899,Increased hematocrit,HPO,phenotype,PHENOTYPE_459
460,460,460,460,460,460,460,460,662,Nyctalopia,HPO,phenotype,PHENOTYPE_460
461,461,461,461,461,461,461,461,3383,Onion bulb formation,HPO,phenotype,PHENOTYPE_461
462,462,462,462,462,462,462,462,9071,Inflammatory myopathy,HPO,phenotype,PHENOTYPE_462
463,463,463,463,463,463,463,463,100802,Malposition of the stomach,HPO,phenotype,PHENOTYPE_463
464,464,464,464,464,464,464,464,6000174,Lateral neck mass,HPO,phenotype,PHENOTYPE_464
465,465,465,465,465,465,465,465,10304,Spinal meningeal diverticulum,HPO,phenotype,PHENOTYPE_465
466,466,466,466,466,466,466,466,30401,Abnormal platelet dense granule ATP/ADP ratio,HPO,phenotype,PHENOTYPE_466
467,467,467,467,467,467,467,467,5200320,Diminishment of relationship seeking,HPO,phenotype,PHENOTYPE_467
468,468,468,468,468,468,468,468,33271,Glomerular capillary microaneurysm,HPO,phenotype,PHENOTYPE_468
469,469,469,469,469,469,469,469,33381,Elevated circulating stearoylcarnitine concentration,HPO,phenotype,PHENOTYPE_469
470,470,470,470,470,470,470,470,34937,Elevated circulating desmosterol concentration,HPO,phenotype,PHENOTYPE_470
471,471,471,471,471,471,471,471,34681,Finger joint contracture,HPO,phenotype,PHENOTYPE_471
472,472,472,472,472,472,472,472,3034,Diaphyseal sclerosis,HPO,phenotype,PHENOTYPE_472
473,473,473,473,473,473,473,473,6143,Abnormal finger flexion crease,HPO,phenotype,PHENOTYPE_473
474,474,474,474,474,474,474,474,33526,Limited ankle dorsiflexion,HPO,phenotype,PHENOTYPE_474
475,475,475,475,475,475,475,475,2144,Tethered cord,HPO,phenotype,PHENOTYPE_475
476,476,476,476,476,476,476,476,1321,Cerebellar hypoplasia,HPO,phenotype,PHENOTYPE_476
477,477,477,477,477,477,477,477,34852,Fetal phenobarbital exposure,HPO,phenotype,PHENOTYPE_477
478,478,478,478,478,478,478,478,40181,Chapped lip,HPO,phenotype,PHENOTYPE_478
479,479,479,479,479,479,479,479,41095,Decreased middle cerebral artery pulsatility index,HPO,phenotype,PHENOTYPE_479
480,480,480,480,480,480,480,480,30842,Choking episodes,HPO,phenotype,PHENOTYPE_480
481,481,481,481,481,481,481,481,9891,Underdeveloped supraorbital ridges,HPO,phenotype,PHENOTYPE_481
482,482,482,482,482,482,482,482,1097,Keratoconjunctivitis sicca,HPO,phenotype,PHENOTYPE_482
483,483,483,483,483,483,483,483,3000042,Abnormal jugular vein morphology,HPO,phenotype,PHENOTYPE_483
484,484,484,484,484,484,484,484,9159,Small epiphysis of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_484
485,485,485,485,485,485,485,485,30387,Increased proportion of class-switched memory B cells,HPO,phenotype,PHENOTYPE_485
486,486,486,486,486,486,486,486,6753,Neoplasm of the stomach,HPO,phenotype,PHENOTYPE_486
487,487,487,487,487,487,487,487,3219,Ethylmalonic aciduria,HPO,phenotype,PHENOTYPE_487
488,488,488,488,488,488,488,488,11829,Narrow philtrum,HPO,phenotype,PHENOTYPE_488
489,489,489,489,489,489,489,489,6146,Broad metacarpal epiphyses,HPO,phenotype,PHENOTYPE_489
490,490,490,490,490,490,490,490,33810,Decreased circulating dihydrotestosterone concentration,HPO,phenotype,PHENOTYPE_490
491,491,491,491,491,491,491,491,9290,Short distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_491
492,492,492,492,492,492,492,492,20090,Post-vaccination polio,HPO,phenotype,PHENOTYPE_492
493,493,493,493,493,493,493,493,500106,Isolated systolic hypertension,HPO,phenotype,PHENOTYPE_493
494,494,494,494,494,494,494,494,189,Narrow palate,HPO,phenotype,PHENOTYPE_494
495,495,495,495,495,495,495,495,6001117,Hypertrophic ulnar styloid process,HPO,phenotype,PHENOTYPE_495
496,496,496,496,496,496,496,496,4864,Elevated bone marrow ring sideroblast count,HPO,phenotype,PHENOTYPE_496
497,497,497,497,497,497,497,497,593,Abnormal anterior chamber morphology,HPO,phenotype,PHENOTYPE_497
498,498,498,498,498,498,498,498,2619,Varicose veins,HPO,phenotype,PHENOTYPE_498
499,499,499,499,499,499,499,499,30495,Abnormality morphology of the macular vasculature,HPO,phenotype,PHENOTYPE_499
500,500,500,500,500,500,500,500,12542,Onychauxis,HPO,phenotype,PHENOTYPE_500
501,501,501,501,501,501,501,501,10559,Vertical clivus,HPO,phenotype,PHENOTYPE_501
502,502,502,502,502,502,502,502,32654,Impaired flow-mediated arterial dilatation,HPO,phenotype,PHENOTYPE_502
503,503,503,503,503,503,503,503,34029,Hepatic foam cells,HPO,phenotype,PHENOTYPE_503
504,504,504,504,504,504,504,504,25063,Scaphoid abdomen,HPO,phenotype,PHENOTYPE_504
505,505,505,505,505,505,505,505,12340,Decreased resting energy expenditure,HPO,phenotype,PHENOTYPE_505
506,506,506,506,506,506,506,506,25479,Self-neglect,HPO,phenotype,PHENOTYPE_506
507,507,507,507,507,507,507,507,31561,Coronary cameral fistula to right ventricle,HPO,phenotype,PHENOTYPE_507
508,508,508,508,508,508,508,508,8661,Urethral stenosis,HPO,phenotype,PHENOTYPE_508
509,509,509,509,509,509,509,509,1519,Disproportionate tall stature,HPO,phenotype,PHENOTYPE_509
510,510,510,510,510,510,510,510,6538,Recurrent bronchopulmonary infections,HPO,phenotype,PHENOTYPE_510
511,511,511,511,511,511,511,511,5200052,Resistance to trivial environmental changes,HPO,phenotype,PHENOTYPE_511
512,512,512,512,512,512,512,512,12755,Enlarged brainstem,HPO,phenotype,PHENOTYPE_512
513,513,513,513,513,513,513,513,32878,Focal impaired awareness sensory seizure with cephalic sensation,HPO,phenotype,PHENOTYPE_513
514,514,514,514,514,514,514,514,34974,Bathrocephaly,HPO,phenotype,PHENOTYPE_514
515,515,515,515,515,515,515,515,5988,Congenital muscular torticollis,HPO,phenotype,PHENOTYPE_515
516,516,516,516,516,516,516,516,1591,Bell-shaped thorax,HPO,phenotype,PHENOTYPE_516
517,517,517,517,517,517,517,517,32807,Neonatal seizure,HPO,phenotype,PHENOTYPE_517
518,518,518,518,518,518,518,518,33015,Increased salivary cortisol level,HPO,phenotype,PHENOTYPE_518
519,519,519,519,519,519,519,519,5892,Proximal tibial and fibular fusion,HPO,phenotype,PHENOTYPE_519
520,520,520,520,520,520,520,520,11305,Partial absence of toe,HPO,phenotype,PHENOTYPE_520
521,521,521,521,521,521,521,521,204,Cleft upper lip,HPO,phenotype,PHENOTYPE_521
522,522,522,522,522,522,522,522,33596,Elevated urinary 3-methylcrotonylglycine level,HPO,phenotype,PHENOTYPE_522
523,523,523,523,523,523,523,523,30029,Splayed fingers,HPO,phenotype,PHENOTYPE_523
524,524,524,524,524,524,524,524,31961,Abnormal serum anion gap,HPO,phenotype,PHENOTYPE_524
525,525,525,525,525,525,525,525,34083,Anti-nucleolus-organizing region antibody positivity,HPO,phenotype,PHENOTYPE_525
526,526,526,526,526,526,526,526,25279,Migratory,HPO,phenotype,PHENOTYPE_526
527,527,527,527,527,527,527,527,20287,Abnormal level of lymph-node cellular CD19 expression,HPO,phenotype,PHENOTYPE_527
528,528,528,528,528,528,528,528,30641,Incomplete congenital stationary night blindness,HPO,phenotype,PHENOTYPE_528
529,529,529,529,529,529,529,529,10177,Osteolytic defects of the phalanges of the toes,HPO,phenotype,PHENOTYPE_529
530,530,530,530,530,530,530,530,3065,Patellar hypoplasia,HPO,phenotype,PHENOTYPE_530
531,531,531,531,531,531,531,531,32392,Nodular subcortical heterotopia in peritrigonal regions,HPO,phenotype,PHENOTYPE_531
532,532,532,532,532,532,532,532,25414,Pendulous urethral stricture,HPO,phenotype,PHENOTYPE_532
533,533,533,533,533,533,533,533,2693,Abnormal skull base morphology,HPO,phenotype,PHENOTYPE_533
534,534,534,534,534,534,534,534,8362,Aplasia/Hypoplasia of the hallux,HPO,phenotype,PHENOTYPE_534
535,535,535,535,535,535,535,535,25439,Pharyngitis,HPO,phenotype,PHENOTYPE_535
536,536,536,536,536,536,536,536,25588,Hypodeviation,HPO,phenotype,PHENOTYPE_536
537,537,537,537,537,537,537,537,2611,Cholestatic liver disease,HPO,phenotype,PHENOTYPE_537
538,538,538,538,538,538,538,538,6000536,Elevated urinary coproporphyrin level,HPO,phenotype,PHENOTYPE_538
539,539,539,539,539,539,539,539,523,Subcapsular cataract,HPO,phenotype,PHENOTYPE_539
540,540,540,540,540,540,540,540,4006,Round radial epiphyses,HPO,phenotype,PHENOTYPE_540
541,541,541,541,541,541,541,541,10888,Morbus Koehler,HPO,phenotype,PHENOTYPE_541
542,542,542,542,542,542,542,542,31317,Fatty replacement of ventricular myocardial tissue,HPO,phenotype,PHENOTYPE_542
543,543,543,543,543,543,543,543,3460,Decreased circulating total IgA,HPO,phenotype,PHENOTYPE_543
544,544,544,544,544,544,544,544,32176,Apical pulmonary opacity,HPO,phenotype,PHENOTYPE_544
545,545,545,545,545,545,545,545,10031,Patchy sclerosis of the 1st metacarpal,HPO,phenotype,PHENOTYPE_545
546,546,546,546,546,546,546,546,5000016,Anti-Hu antibody positivity,HPO,phenotype,PHENOTYPE_546
547,547,547,547,547,547,547,547,7256,Abnormal pyramidal sign,HPO,phenotype,PHENOTYPE_547
548,548,548,548,548,548,548,548,30723,Congenital megalourethra,HPO,phenotype,PHENOTYPE_548
549,549,549,549,549,549,549,549,4852,Reduced leukocyte alkaline phosphatase,HPO,phenotype,PHENOTYPE_549
550,550,550,550,550,550,550,550,30230,Central core regions in muscle fibers,HPO,phenotype,PHENOTYPE_550
551,551,551,551,551,551,551,551,20071,Viremia,HPO,phenotype,PHENOTYPE_551
552,552,552,552,552,552,552,552,31517,Verruciform xanthoma,HPO,phenotype,PHENOTYPE_552
553,553,553,553,553,553,553,553,25270,Abnormal esophagus physiology,HPO,phenotype,PHENOTYPE_553
554,554,554,554,554,554,554,554,32605,High renal tubular epithelial cell N/C ratio,HPO,phenotype,PHENOTYPE_554
555,555,555,555,555,555,555,555,12233,Intramuscular hematoma,HPO,phenotype,PHENOTYPE_555
556,556,556,556,556,556,556,556,33266,Glomerular pseudocrescent,HPO,phenotype,PHENOTYPE_556
557,557,557,557,557,557,557,557,31824,Hepatic mastocytosis,HPO,phenotype,PHENOTYPE_557
558,558,558,558,558,558,558,558,6000773,Recent history of moisture in external ear canal,HPO,phenotype,PHENOTYPE_558
559,559,559,559,559,559,559,559,32273,Increased circulating N-acetylaspartic acid concentration,HPO,phenotype,PHENOTYPE_559
560,560,560,560,560,560,560,560,200,Short lingual frenulum,HPO,phenotype,PHENOTYPE_560
561,561,561,561,561,561,561,561,11346,Mild expressive language delay,HPO,phenotype,PHENOTYPE_561
562,562,562,562,562,562,562,562,3053,Epiphyseal deformities of tubular bones,HPO,phenotype,PHENOTYPE_562
563,563,563,563,563,563,563,563,100952,Enlarged sylvian cistern,HPO,phenotype,PHENOTYPE_563
564,564,564,564,564,564,564,564,7740,Long eyelashes in irregular rows,HPO,phenotype,PHENOTYPE_564
565,565,565,565,565,565,565,565,25480,Lipomyelomeningocele,HPO,phenotype,PHENOTYPE_565
566,566,566,566,566,566,566,566,100374,Aplasia/Hypoplasia of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_566
567,567,567,567,567,567,567,567,4859,Amegakaryocytic thrombocytopenia,HPO,phenotype,PHENOTYPE_567
568,568,568,568,568,568,568,568,4608,Anteriorly placed odontoid process,HPO,phenotype,PHENOTYPE_568
569,569,569,569,569,569,569,569,7813,Nongranulomatous uveitis,HPO,phenotype,PHENOTYPE_569
570,570,570,570,570,570,570,570,25751,Reduced anterior scleral thickness,HPO,phenotype,PHENOTYPE_570
571,571,571,571,571,571,571,571,40031,Chorioretinal hyperpigmentation,HPO,phenotype,PHENOTYPE_571
572,572,572,572,572,572,572,572,506,Telecanthus,HPO,phenotype,PHENOTYPE_572
573,573,573,573,573,573,573,573,4054,Sclerosis of hand bone,HPO,phenotype,PHENOTYPE_573
574,574,574,574,574,574,574,574,5579,Impaired renal tubular reabsorption of chloride,HPO,phenotype,PHENOTYPE_574
575,575,575,575,575,575,575,575,6000325,Excessive blood loss during delivery,HPO,phenotype,PHENOTYPE_575
576,576,576,576,576,576,576,576,8059,Aplasia/Hypoplasia of the macula,HPO,phenotype,PHENOTYPE_576
577,577,577,577,577,577,577,577,430033,Gottron sign,HPO,phenotype,PHENOTYPE_577
578,578,578,578,578,578,578,578,4000009,Kinesiophobia,HPO,phenotype,PHENOTYPE_578
579,579,579,579,579,579,579,579,6000528,Livestock exposure,HPO,phenotype,PHENOTYPE_579
580,580,580,580,580,580,580,580,10839,Increased urinary copper concentration,HPO,phenotype,PHENOTYPE_580
581,581,581,581,581,581,581,581,10286,Abnormal salivary gland morphology,HPO,phenotype,PHENOTYPE_581
582,582,582,582,582,582,582,582,31373,Stiff tongue,HPO,phenotype,PHENOTYPE_582
583,583,583,583,583,583,583,583,31238,Necklace skeletal muscle fibers,HPO,phenotype,PHENOTYPE_583
584,584,584,584,584,584,584,584,10067,Aplasia/hypoplasia of the 1st metatarsal,HPO,phenotype,PHENOTYPE_584
585,585,585,585,585,585,585,585,8615,Adult onset sensorineural hearing impairment,HPO,phenotype,PHENOTYPE_585
586,586,586,586,586,586,586,586,855,Insulin resistance,HPO,phenotype,PHENOTYPE_586
587,587,587,587,587,587,587,587,2878,Respiratory failure,HPO,phenotype,PHENOTYPE_587
588,588,588,588,588,588,588,588,11730,Abnormal central sensory function,HPO,phenotype,PHENOTYPE_588
589,589,589,589,589,589,589,589,4000113,Aminoglycoside exposure,HPO,phenotype,PHENOTYPE_589
590,590,590,590,590,590,590,590,31101,Abnormal circulating antimullerian hormone concentration,HPO,phenotype,PHENOTYPE_590
591,591,591,591,591,591,591,591,10329,Abnormality of the epiphyses of the 3rd toe,HPO,phenotype,PHENOTYPE_591
592,592,592,592,592,592,592,592,9131,Abnormality of the musculature of the thorax,HPO,phenotype,PHENOTYPE_592
593,593,593,593,593,593,593,593,11491,Reduced number of corneal endothelial cells,HPO,phenotype,PHENOTYPE_593
594,594,594,594,594,594,594,594,33134,Abdominal adhesions,HPO,phenotype,PHENOTYPE_594
595,595,595,595,595,595,595,595,5328,Progeroid facial appearance,HPO,phenotype,PHENOTYPE_595
596,596,596,596,596,596,596,596,34706,Reduced hepatic D-glycerate kinase activity,HPO,phenotype,PHENOTYPE_596
597,597,597,597,597,597,597,597,6000320,Failure to elevate ammonia on ischemic exercise,HPO,phenotype,PHENOTYPE_597
598,598,598,598,598,598,598,598,30867,Vertical orbital dystopia,HPO,phenotype,PHENOTYPE_598
599,599,599,599,599,599,599,599,7210,Lower limb amyotrophy,HPO,phenotype,PHENOTYPE_599
600,600,600,600,600,600,600,600,11707,Mobitz I atrioventricular block,HPO,phenotype,PHENOTYPE_600
601,601,601,601,601,601,601,601,5930,Abnormal epiphysis morphology,HPO,phenotype,PHENOTYPE_601
602,602,602,602,602,602,602,602,30760,Renal fibrosis,HPO,phenotype,PHENOTYPE_602
603,603,603,603,603,603,603,603,33086,Increased antral follicle count,HPO,phenotype,PHENOTYPE_603
604,604,604,604,604,604,604,604,3184,Decreased hip abduction,HPO,phenotype,PHENOTYPE_604
605,605,605,605,605,605,605,605,430085,Anti-varicella-zoster antibody positivity,HPO,phenotype,PHENOTYPE_605
606,606,606,606,606,606,606,606,33259,Non-motor seizure,HPO,phenotype,PHENOTYPE_606
607,607,607,607,607,607,607,607,9161,Aplasia/Hypoplasia of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_607
608,608,608,608,608,608,608,608,34645,Hepatic polyglucosan accumulation,HPO,phenotype,PHENOTYPE_608
609,609,609,609,609,609,609,609,25117,Rete ridge flattening,HPO,phenotype,PHENOTYPE_609
610,610,610,610,610,610,610,610,6000014,Pain worse when lying flat,HPO,phenotype,PHENOTYPE_610
611,611,611,611,611,611,611,611,33473,10-minute APGAR score of 5,HPO,phenotype,PHENOTYPE_611
612,612,612,612,612,612,612,612,2119,Ventriculomegaly,HPO,phenotype,PHENOTYPE_612
613,613,613,613,613,613,613,613,32721,Focal motor seizure with paresis/paralysis,HPO,phenotype,PHENOTYPE_613
614,614,614,614,614,614,614,614,34504,Septate gallbladder,HPO,phenotype,PHENOTYPE_614
615,615,615,615,615,615,615,615,25431,Staccato cry,HPO,phenotype,PHENOTYPE_615
616,616,616,616,616,616,616,616,100185,Irregular epiphysis of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_616
617,617,617,617,617,617,617,617,34210,Fetal intraventricular hemorrhage,HPO,phenotype,PHENOTYPE_617
618,618,618,618,618,618,618,618,9457,Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_618
619,619,619,619,619,619,619,619,5200416,Morbid jealousy,HPO,phenotype,PHENOTYPE_619
620,620,620,620,620,620,620,620,6370,Distal ulnar epiphyseal stippling,HPO,phenotype,PHENOTYPE_620
621,621,621,621,621,621,621,621,31797,Clinical course,HPO,phenotype,PHENOTYPE_621
622,622,622,622,622,622,622,622,3532,Ornithinuria,HPO,phenotype,PHENOTYPE_622
623,623,623,623,623,623,623,623,10084,Duplication of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_623
624,624,624,624,624,624,624,624,40132,Abnormal sensory nerve conduction velocity,HPO,phenotype,PHENOTYPE_624
625,625,625,625,625,625,625,625,9102,Anterior open-bite malocclusion,HPO,phenotype,PHENOTYPE_625
626,626,626,626,626,626,626,626,7370,Aplasia/Hypoplasia of the corpus callosum,HPO,phenotype,PHENOTYPE_626
627,627,627,627,627,627,627,627,4571,Widening of cervical spinal canal,HPO,phenotype,PHENOTYPE_627
628,628,628,628,628,628,628,628,11375,Cochlear aplasia,HPO,phenotype,PHENOTYPE_628
629,629,629,629,629,629,629,629,12479,Temporomandibular joint crepitus,HPO,phenotype,PHENOTYPE_629
630,630,630,630,630,630,630,630,31485,Subperiosteal bone formation,HPO,phenotype,PHENOTYPE_630
631,631,631,631,631,631,631,631,10190,Patchy sclerosis of distal toe phalanx,HPO,phenotype,PHENOTYPE_631
632,632,632,632,632,632,632,632,8178,Abnormal cartilage matrix,HPO,phenotype,PHENOTYPE_632
633,633,633,633,633,633,633,633,31901,Elevated total serum tryptase,HPO,phenotype,PHENOTYPE_633
634,634,634,634,634,634,634,634,9730,Rhabdomyoma,HPO,phenotype,PHENOTYPE_634
635,635,635,635,635,635,635,635,33520,Paradoxical embolism,HPO,phenotype,PHENOTYPE_635
636,636,636,636,636,636,636,636,30521,Bitemporal hemianopia,HPO,phenotype,PHENOTYPE_636
637,637,637,637,637,637,637,637,10010,Abnormal 2nd metacarpal morphology,HPO,phenotype,PHENOTYPE_637
638,638,638,638,638,638,638,638,5000010,Anti-GABA(B)R antibody,HPO,phenotype,PHENOTYPE_638
639,639,639,639,639,639,639,639,11300,Broad fingertip,HPO,phenotype,PHENOTYPE_639
640,640,640,640,640,640,640,640,2627,Right aortic arch with mirror image branching,HPO,phenotype,PHENOTYPE_640
641,641,641,641,641,641,641,641,12303,Abnormal aortic arch morphology,HPO,phenotype,PHENOTYPE_641
642,642,642,642,642,642,642,642,3277,Constricted iliac wing,HPO,phenotype,PHENOTYPE_642
643,643,643,643,643,643,643,643,11528,Solitary congenital hypertrophy of retinal pigment epithelium,HPO,phenotype,PHENOTYPE_643
644,644,644,644,644,644,644,644,6175,Proximal phalangeal periosteal thickening,HPO,phenotype,PHENOTYPE_644
645,645,645,645,645,645,645,645,34365,Elevated circulating alpha-aminoadipic semialdehyde concentration,HPO,phenotype,PHENOTYPE_645
646,646,646,646,646,646,646,646,30323,Unilateral vertebral artery hypoplasia,HPO,phenotype,PHENOTYPE_646
647,647,647,647,647,647,647,647,100215,Cone-shaped epiphysis of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_647
648,648,648,648,648,648,648,648,9702,Carpal synostosis,HPO,phenotype,PHENOTYPE_648
649,649,649,649,649,649,649,649,430023,Abnormality of the maxillary sinus,HPO,phenotype,PHENOTYPE_649
650,650,650,650,650,650,650,650,6992,Anterior basal encephalocele,HPO,phenotype,PHENOTYPE_650
651,651,651,651,651,651,651,651,5445,Enlarged posterior fossa,HPO,phenotype,PHENOTYPE_651
652,652,652,652,652,652,652,652,11245,Abnormality of superior crus of antihelix,HPO,phenotype,PHENOTYPE_652
653,653,653,653,653,653,653,653,10977,Abnormal phagocytosis,HPO,phenotype,PHENOTYPE_653
654,654,654,654,654,654,654,654,6000307,Jaw mass,HPO,phenotype,PHENOTYPE_654
655,655,655,655,655,655,655,655,7477,Abnormal dermatoglyphics,HPO,phenotype,PHENOTYPE_655
656,656,656,656,656,656,656,656,33799,Abnormal circulating sex hormone concentration,HPO,phenotype,PHENOTYPE_656
657,657,657,657,657,657,657,657,1853,Bifid distal phalanx of toe,HPO,phenotype,PHENOTYPE_657
658,658,658,658,658,658,658,658,34215,Fetal cerebellar hemisphere hemorrhage,HPO,phenotype,PHENOTYPE_658
659,659,659,659,659,659,659,659,6000481,Reduced urinary manganese level,HPO,phenotype,PHENOTYPE_659
660,660,660,660,660,660,660,660,100902,Sclerosis of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_660
661,661,661,661,661,661,661,661,32978,Lipid-laden macrophages in bronchoalveolar fluid,HPO,phenotype,PHENOTYPE_661
662,662,662,662,662,662,662,662,5200329,Problematic alcohol consumption,HPO,phenotype,PHENOTYPE_662
663,663,663,663,663,663,663,663,772,Abnormal rib morphology,HPO,phenotype,PHENOTYPE_663
664,664,664,664,664,664,664,664,12470,Setting-sun eye phenomenon,HPO,phenotype,PHENOTYPE_664
665,665,665,665,665,665,665,665,6000814,Temporomandibular joint dislocation,HPO,phenotype,PHENOTYPE_665
666,666,666,666,666,666,666,666,25716,Fetal anemia,HPO,phenotype,PHENOTYPE_666
667,667,667,667,667,667,667,667,32686,Focal aware cognitive seizure with memory impairment,HPO,phenotype,PHENOTYPE_667
668,668,668,668,668,668,668,668,5527,Reduced kininogen activity,HPO,phenotype,PHENOTYPE_668
669,669,669,669,669,669,669,669,7305,CNS demyelination,HPO,phenotype,PHENOTYPE_669
670,670,670,670,670,670,670,670,100864,Short femoral neck,HPO,phenotype,PHENOTYPE_670
671,671,671,671,671,671,671,671,10795,Cerebellar glioma,HPO,phenotype,PHENOTYPE_671
672,672,672,672,672,672,672,672,6000757,Elevated circulating thiosulfate concentration,HPO,phenotype,PHENOTYPE_672
673,673,673,673,673,673,673,673,33822,Mass on thoracic imaging,HPO,phenotype,PHENOTYPE_673
674,674,674,674,674,674,674,674,394,Lop ear,HPO,phenotype,PHENOTYPE_674
675,675,675,675,675,675,675,675,32321,Unaffected,HPO,phenotype,PHENOTYPE_675
676,676,676,676,676,676,676,676,3020,Enlargement of the wrists,HPO,phenotype,PHENOTYPE_676
677,677,677,677,677,677,677,677,6000436,Elevated circulating ghrelin concentration,HPO,phenotype,PHENOTYPE_677
678,678,678,678,678,678,678,678,5303,Aortic arch calcification,HPO,phenotype,PHENOTYPE_678
679,679,679,679,679,679,679,679,30582,Pinhole visual acuity 2.0 LogMAR,HPO,phenotype,PHENOTYPE_679
680,680,680,680,680,680,680,680,3090,Hypoplasia of the capital femoral epiphysis,HPO,phenotype,PHENOTYPE_680
681,681,681,681,681,681,681,681,31596,Abnormal PR segment,HPO,phenotype,PHENOTYPE_681
682,682,682,682,682,682,682,682,25038,Intratesticular abscess,HPO,phenotype,PHENOTYPE_682
683,683,683,683,683,683,683,683,6001100,Positive serum amyloid P scintigraphy,HPO,phenotype,PHENOTYPE_683
684,684,684,684,684,684,684,684,33710,Rest dyspnea,HPO,phenotype,PHENOTYPE_684
685,685,685,685,685,685,685,685,7104,Prolonged somatosensory evoked potentials,HPO,phenotype,PHENOTYPE_685
686,686,686,686,686,686,686,686,12517,Reduced circulating catalase activity,HPO,phenotype,PHENOTYPE_686
687,687,687,687,687,687,687,687,100237,Proximal foot symphalangism,HPO,phenotype,PHENOTYPE_687
688,688,688,688,688,688,688,688,31487,Capillary malformation of the lip,HPO,phenotype,PHENOTYPE_688
689,689,689,689,689,689,689,689,10674,Abnormal curvature of the vertebral column,HPO,phenotype,PHENOTYPE_689
690,690,690,690,690,690,690,690,100804,Ungual fibroma,HPO,phenotype,PHENOTYPE_690
691,691,691,691,691,691,691,691,33195,Perianal erythema,HPO,phenotype,PHENOTYPE_691
692,692,692,692,692,692,692,692,11977,Elevated urinary homovanillic acid,HPO,phenotype,PHENOTYPE_692
693,693,693,693,693,693,693,693,33934,Arcuate vein intimal/medial storage material accumulation,HPO,phenotype,PHENOTYPE_693
694,694,694,694,694,694,694,694,6000615,Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_694
695,695,695,695,695,695,695,695,5950,Laryngeal web,HPO,phenotype,PHENOTYPE_695
696,696,696,696,696,696,696,696,33777,Supernumerary cusp,HPO,phenotype,PHENOTYPE_696
697,697,697,697,697,697,697,697,3639,Elevated urinary epinephrine level,HPO,phenotype,PHENOTYPE_697
698,698,698,698,698,698,698,698,31638,Anomalous origin of the left anterior descending artery from the pulmonary artery,HPO,phenotype,PHENOTYPE_698
699,699,699,699,699,699,699,699,7994,Peripheral visual field loss,HPO,phenotype,PHENOTYPE_699
700,700,700,700,700,700,700,700,45027,Abnormality of the thoracic cavity,HPO,phenotype,PHENOTYPE_700
701,701,701,701,701,701,701,701,33690,Retrograde memory impairment,HPO,phenotype,PHENOTYPE_701
702,702,702,702,702,702,702,702,12529,Abnormal dense granule content,HPO,phenotype,PHENOTYPE_702
703,703,703,703,703,703,703,703,25060,Multifocal splenic abscess,HPO,phenotype,PHENOTYPE_703
704,704,704,704,704,704,704,704,33985,Elongated femoral neck,HPO,phenotype,PHENOTYPE_704
705,705,705,705,705,705,705,705,2893,Pituitary adenoma,HPO,phenotype,PHENOTYPE_705
706,706,706,706,706,706,706,706,8606,Supraauricular pit,HPO,phenotype,PHENOTYPE_706
707,707,707,707,707,707,707,707,12057,Superficial spreading melanoma,HPO,phenotype,PHENOTYPE_707
708,708,708,708,708,708,708,708,34283,Increased fecal protoporphyrin concentration,HPO,phenotype,PHENOTYPE_708
709,709,709,709,709,709,709,709,5201,Anomalous splenoportal venous system,HPO,phenotype,PHENOTYPE_709
710,710,710,710,710,710,710,710,9603,Deviation of the thumb,HPO,phenotype,PHENOTYPE_710
711,711,711,711,711,711,711,711,4554,Generalized hypertrichosis,HPO,phenotype,PHENOTYPE_711
712,712,712,712,712,712,712,712,100317,Argyrophilic inclusion bodies,HPO,phenotype,PHENOTYPE_712
713,713,713,713,713,713,713,713,6000363,Flank mass,HPO,phenotype,PHENOTYPE_713
714,714,714,714,714,714,714,714,5200220,Decreased facial expression mirroring,HPO,phenotype,PHENOTYPE_714
715,715,715,715,715,715,715,715,1964,Aplasia/Hypoplasia of metatarsal bones,HPO,phenotype,PHENOTYPE_715
716,716,716,716,716,716,716,716,33870,Medullary peritubular capillary intraluminal thrombi,HPO,phenotype,PHENOTYPE_716
717,717,717,717,717,717,717,717,6801,Hyperactive deep tendon reflexes,HPO,phenotype,PHENOTYPE_717
718,718,718,718,718,718,718,718,33363,Hyaline membranes,HPO,phenotype,PHENOTYPE_718
719,719,719,719,719,719,719,719,34810,Small acrosomal area,HPO,phenotype,PHENOTYPE_719
720,720,720,720,720,720,720,720,40224,Abnormality of fibrinolysis,HPO,phenotype,PHENOTYPE_720
721,721,721,721,721,721,721,721,10569,Elevated circulating 7-dehydrocholesterol concentration,HPO,phenotype,PHENOTYPE_721
722,722,722,722,722,722,722,722,10405,Broad middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_722
723,723,723,723,723,723,723,723,30626,Foveal intraretinal hyporeflective spaces on macular OCT,HPO,phenotype,PHENOTYPE_723
724,724,724,724,724,724,724,724,7015,Poor gross motor coordination,HPO,phenotype,PHENOTYPE_724
725,725,725,725,725,725,725,725,5200126,Aggression towards caregivers,HPO,phenotype,PHENOTYPE_725
726,726,726,726,726,726,726,726,34335,Inheritance qualifier,HPO,phenotype,PHENOTYPE_726
727,727,727,727,727,727,727,727,12820,Bilateral vocal cord paralysis,HPO,phenotype,PHENOTYPE_727
728,728,728,728,728,728,728,728,8970,Scapulohumeral muscular dystrophy,HPO,phenotype,PHENOTYPE_728
729,729,729,729,729,729,729,729,4000023,Anti-laminin gamma1 antibody positivity,HPO,phenotype,PHENOTYPE_729
730,730,730,730,730,730,730,730,6000770,Fixed fetal extremities,HPO,phenotype,PHENOTYPE_730
731,731,731,731,731,731,731,731,6725,Pancreatic adenocarcinoma,HPO,phenotype,PHENOTYPE_731
732,732,732,732,732,732,732,732,11163,Focal sensory seizure with somatosensory features,HPO,phenotype,PHENOTYPE_732
733,733,733,733,733,733,733,733,4374,Hemiplegia/hemiparesis,HPO,phenotype,PHENOTYPE_733
734,734,734,734,734,734,734,734,4045,Sloping ulnar metaphysis,HPO,phenotype,PHENOTYPE_734
735,735,735,735,735,735,735,735,6471,Fixed elbow flexion,HPO,phenotype,PHENOTYPE_735
736,736,736,736,736,736,736,736,4870,Chronic hemolytic anemia,HPO,phenotype,PHENOTYPE_736
737,737,737,737,737,737,737,737,7583,Telangiectasia macularis eruptiva perstans,HPO,phenotype,PHENOTYPE_737
738,738,738,738,738,738,738,738,6000411,Facial nerve compression,HPO,phenotype,PHENOTYPE_738
739,739,739,739,739,739,739,739,34221,Abnormal temporal lobe morphology,HPO,phenotype,PHENOTYPE_739
740,740,740,740,740,740,740,740,31986,Polyminimyoclonus,HPO,phenotype,PHENOTYPE_740
741,741,741,741,741,741,741,741,6000507,Non-pitting edema,HPO,phenotype,PHENOTYPE_741
742,742,742,742,742,742,742,742,3991,Osteosclerosis of the ulna,HPO,phenotype,PHENOTYPE_742
743,743,743,743,743,743,743,743,3876,Osteoporotic humerus,HPO,phenotype,PHENOTYPE_743
744,744,744,744,744,744,744,744,100728,Germ cell neoplasia,HPO,phenotype,PHENOTYPE_744
745,745,745,745,745,745,745,745,500113,Positive urine opioid test,HPO,phenotype,PHENOTYPE_745
746,746,746,746,746,746,746,746,11945,Bronchiolitis obliterans organizing pneumonia,HPO,phenotype,PHENOTYPE_746
747,747,747,747,747,747,747,747,32290,Monoclonal elevation of IgG,HPO,phenotype,PHENOTYPE_747
748,748,748,748,748,748,748,748,25324,Arterial occlusion,HPO,phenotype,PHENOTYPE_748
749,749,749,749,749,749,749,749,12146,Abnormality of von Willebrand factor,HPO,phenotype,PHENOTYPE_749
750,750,750,750,750,750,750,750,9795,Branchial fistula,HPO,phenotype,PHENOTYPE_750
751,751,751,751,751,751,751,751,6001058,Anti-neuronal intermediate filament antibody positivity,HPO,phenotype,PHENOTYPE_751
752,752,752,752,752,752,752,752,100481,Proximal/middle symphalangism of 4th toe,HPO,phenotype,PHENOTYPE_752
753,753,753,753,753,753,753,753,9067,Progressive spinal muscular atrophy,HPO,phenotype,PHENOTYPE_753
754,754,754,754,754,754,754,754,6001072,Excessive diet restriction,HPO,phenotype,PHENOTYPE_754
755,755,755,755,755,755,755,755,32996,Abnormal cystatin C level,HPO,phenotype,PHENOTYPE_755
756,756,756,756,756,756,756,756,10846,EEG with persistent abnormal rhythmic activity,HPO,phenotype,PHENOTYPE_756
757,757,757,757,757,757,757,757,34189,Anti-thyroid-stimulating hormone receptor antibody positivity,HPO,phenotype,PHENOTYPE_757
758,758,758,758,758,758,758,758,1115,Posterior polar cataract,HPO,phenotype,PHENOTYPE_758
759,759,759,759,759,759,759,759,500214,Abnormal CSF aromatic amino acid concentration,HPO,phenotype,PHENOTYPE_759
760,760,760,760,760,760,760,760,11187,Focal EEG discharges with propagation to ipsilateral hemisphere,HPO,phenotype,PHENOTYPE_760
761,761,761,761,761,761,761,761,3891,Abnormal humeral epiphysis morphology,HPO,phenotype,PHENOTYPE_761
762,762,762,762,762,762,762,762,4283,Narrow palm,HPO,phenotype,PHENOTYPE_762
763,763,763,763,763,763,763,763,34536,Ameliorated by exposure to medication,HPO,phenotype,PHENOTYPE_763
764,764,764,764,764,764,764,764,9265,Fragmentation of the epiphysis of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_764
765,765,765,765,765,765,765,765,32662,Focal-onset seizure evolving into bilateral convulsive status epilepticus,HPO,phenotype,PHENOTYPE_765
766,766,766,766,766,766,766,766,2282,Gray matter heterotopia,HPO,phenotype,PHENOTYPE_766
767,767,767,767,767,767,767,767,6001169,Supraclavicular nerve distribution,HPO,phenotype,PHENOTYPE_767
768,768,768,768,768,768,768,768,5241,Total intestinal aganglionosis,HPO,phenotype,PHENOTYPE_768
769,769,769,769,769,769,769,769,12552,Increased neutrophil nuclear projections,HPO,phenotype,PHENOTYPE_769
770,770,770,770,770,770,770,770,6000428,Glomerular fibronectin deposits,HPO,phenotype,PHENOTYPE_770
771,771,771,771,771,771,771,771,11735,Adrenocorticotropin deficient adrenal insufficiency,HPO,phenotype,PHENOTYPE_771
772,772,772,772,772,772,772,772,557,Buphthalmos,HPO,phenotype,PHENOTYPE_772
773,773,773,773,773,773,773,773,9339,Fragmentation of the epiphysis of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_773
774,774,774,774,774,774,774,774,34981,Exposure to birds,HPO,phenotype,PHENOTYPE_774
775,775,775,775,775,775,775,775,20230,Abnormal lymph-node tissue architecture,HPO,phenotype,PHENOTYPE_775
776,776,776,776,776,776,776,776,32231,Hypochromia,HPO,phenotype,PHENOTYPE_776
777,777,777,777,777,777,777,777,3000075,Abnormal lingual nerve morphology,HPO,phenotype,PHENOTYPE_777
778,778,778,778,778,778,778,778,12418,Hypoxemia,HPO,phenotype,PHENOTYPE_778
779,779,779,779,779,779,779,779,33927,Arcuate artery endoarterial leukocyte hypercellularity,HPO,phenotype,PHENOTYPE_779
780,780,780,780,780,780,780,780,25372,Loud snoring,HPO,phenotype,PHENOTYPE_780
781,781,781,781,781,781,781,781,34988,Focal necrotic thalamus lesion,HPO,phenotype,PHENOTYPE_781
782,782,782,782,782,782,782,782,6000026,History of spicy food intake,HPO,phenotype,PHENOTYPE_782
783,783,783,783,783,783,783,783,25394,Cystic pattern on pulmonary HRCT,HPO,phenotype,PHENOTYPE_783
784,784,784,784,784,784,784,784,6000216,Reduced HMG-CoA lyase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_784
785,785,785,785,785,785,785,785,30596,Abnormal Humphrey SITA 30-2 perimetry test,HPO,phenotype,PHENOTYPE_785
786,786,786,786,786,786,786,786,10984,Digenic inheritance,HPO,phenotype,PHENOTYPE_786
787,787,787,787,787,787,787,787,6000513,Diminished neutrophil myeloperoxidase activity,HPO,phenotype,PHENOTYPE_787
788,788,788,788,788,788,788,788,30883,Femoroacetabular impingement,HPO,phenotype,PHENOTYPE_788
789,789,789,789,789,789,789,789,10401,Symphalangism affecting the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_789
790,790,790,790,790,790,790,790,33241,Polyalveolar lobe,HPO,phenotype,PHENOTYPE_790
791,791,791,791,791,791,791,791,6000842,Multiple eyelid beaded papules,HPO,phenotype,PHENOTYPE_791
792,792,792,792,792,792,792,792,100322,Aplasia of the pyramidal tract,HPO,phenotype,PHENOTYPE_792
793,793,793,793,793,793,793,793,288,Abnormality of the philtrum,HPO,phenotype,PHENOTYPE_793
794,794,794,794,794,794,794,794,9572,Osteolytic defects of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_794
795,795,795,795,795,795,795,795,9919,Retinoblastoma,HPO,phenotype,PHENOTYPE_795
796,796,796,796,796,796,796,796,20227,Floating gallbladder,HPO,phenotype,PHENOTYPE_796
797,797,797,797,797,797,797,797,6308,Atrophy of alveolar ridges,HPO,phenotype,PHENOTYPE_797
798,798,798,798,798,798,798,798,233,Thin vermilion border,HPO,phenotype,PHENOTYPE_798
799,799,799,799,799,799,799,799,40226,Decreased level of heparin co-factor II,HPO,phenotype,PHENOTYPE_799
800,800,800,800,800,800,800,800,6321,Multiple non-erupting secondary teeth,HPO,phenotype,PHENOTYPE_800
801,801,801,801,801,801,801,801,6000625,Penile corporal blood gas ischemia,HPO,phenotype,PHENOTYPE_801
802,802,802,802,802,802,802,802,34936,Elevated circulating lathosterol concentration,HPO,phenotype,PHENOTYPE_802
803,803,803,803,803,803,803,803,500097,Stool xenobiotic,HPO,phenotype,PHENOTYPE_803
804,804,804,804,804,804,804,804,31044,Type A5 brachydactyly,HPO,phenotype,PHENOTYPE_804
805,805,805,805,805,805,805,805,6446,Dysplastic patella,HPO,phenotype,PHENOTYPE_805
806,806,806,806,806,806,806,806,10933,Hyperxanthinemia,HPO,phenotype,PHENOTYPE_806
807,807,807,807,807,807,807,807,33756,Decreased left ventricular end-diastolic volume,HPO,phenotype,PHENOTYPE_807
808,808,808,808,808,808,808,808,100290,Abnormality of peripheral somatosensory evoked potentials,HPO,phenotype,PHENOTYPE_808
809,809,809,809,809,809,809,809,1727,Thromboembolic stroke,HPO,phenotype,PHENOTYPE_809
810,810,810,810,810,810,810,810,6000509,Elevated CSF L-2-hydroxyglutaric acid concentration,HPO,phenotype,PHENOTYPE_810
811,811,811,811,811,811,811,811,6000663,Elevated myocardial iron load,HPO,phenotype,PHENOTYPE_811
812,812,812,812,812,812,812,812,2395,Lower limb hyperreflexia,HPO,phenotype,PHENOTYPE_812
813,813,813,813,813,813,813,813,41217,Fractured shoulder,HPO,phenotype,PHENOTYPE_813
814,814,814,814,814,814,814,814,32183,Decreased proportion of memory T cells,HPO,phenotype,PHENOTYPE_814
815,815,815,815,815,815,815,815,3562,Abnormal metaphyseal vascular invasion,HPO,phenotype,PHENOTYPE_815
816,816,816,816,816,816,816,816,45025,Narrow palpebral fissure,HPO,phenotype,PHENOTYPE_816
817,817,817,817,817,817,817,817,7902,Vitreous hemorrhage,HPO,phenotype,PHENOTYPE_817
818,818,818,818,818,818,818,818,31054,Long segment coarctation of the aorta,HPO,phenotype,PHENOTYPE_818
819,819,819,819,819,819,819,819,12815,Hypoplastic female external genitalia,HPO,phenotype,PHENOTYPE_819
820,820,820,820,820,820,820,820,9501,Abnormality of the epiphysis of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_820
821,821,821,821,821,821,821,821,30034,Glomerular basement membrane lamellation,HPO,phenotype,PHENOTYPE_821
822,822,822,822,822,822,822,822,6000875,Wide sacroiliac joint,HPO,phenotype,PHENOTYPE_822
823,823,823,823,823,823,823,823,34154,Anti-Ki antibody positivity,HPO,phenotype,PHENOTYPE_823
824,824,824,824,824,824,824,824,6290,Discolored lateral incisors,HPO,phenotype,PHENOTYPE_824
825,825,825,825,825,825,825,825,500079,Alternating hypophoria,HPO,phenotype,PHENOTYPE_825
826,826,826,826,826,826,826,826,6000660,Paravertebral mass,HPO,phenotype,PHENOTYPE_826
827,827,827,827,827,827,827,827,7573,Late onset atopic dermatitis,HPO,phenotype,PHENOTYPE_827
828,828,828,828,828,828,828,828,34200,Abnormal CSF homovanillic acid concentration,HPO,phenotype,PHENOTYPE_828
829,829,829,829,829,829,829,829,9126,Increased adipose tissue,HPO,phenotype,PHENOTYPE_829
830,830,830,830,830,830,830,830,9691,Irregular thumb epiphysis,HPO,phenotype,PHENOTYPE_830
831,831,831,831,831,831,831,831,4243,Abnormal scaphoid morphology,HPO,phenotype,PHENOTYPE_831
832,832,832,832,832,832,832,832,100733,Neoplasm of the parathyroid gland,HPO,phenotype,PHENOTYPE_832
833,833,833,833,833,833,833,833,6000565,Elevated circulating cholesterol sulfate concentration,HPO,phenotype,PHENOTYPE_833
834,834,834,834,834,834,834,834,32831,Neonatal bilateral asymmetric tonic seizure,HPO,phenotype,PHENOTYPE_834
835,835,835,835,835,835,835,835,1197,Abnormality of prenatal development or birth,HPO,phenotype,PHENOTYPE_835
836,836,836,836,836,836,836,836,10292,Absent uvula,HPO,phenotype,PHENOTYPE_836
837,837,837,837,837,837,837,837,410270,Esophageal hemangioma,HPO,phenotype,PHENOTYPE_837
838,838,838,838,838,838,838,838,25401,Staring gaze,HPO,phenotype,PHENOTYPE_838
839,839,839,839,839,839,839,839,11908,Unilateral radial aplasia,HPO,phenotype,PHENOTYPE_839
840,840,840,840,840,840,840,840,11172,Complex febrile seizure,HPO,phenotype,PHENOTYPE_840
841,841,841,841,841,841,841,841,31500,Abdominal mass,HPO,phenotype,PHENOTYPE_841
842,842,842,842,842,842,842,842,6493,Aplasia/hypoplasia involving bones of the lower limbs,HPO,phenotype,PHENOTYPE_842
843,843,843,843,843,843,843,843,4821,Hypersegmentation of neutrophil nuclei,HPO,phenotype,PHENOTYPE_843
844,844,844,844,844,844,844,844,20087,BCGosis,HPO,phenotype,PHENOTYPE_844
845,845,845,845,845,845,845,845,100145,Triangular epiphysis of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_845
846,846,846,846,846,846,846,846,6000577,Reduced tissue 3-methylglutaconyl-CoA hydratase activity,HPO,phenotype,PHENOTYPE_846
847,847,847,847,847,847,847,847,5028,Widened proximal tibial metaphyses,HPO,phenotype,PHENOTYPE_847
848,848,848,848,848,848,848,848,45056,Abnormal circulating alpha-fetoprotein concentration,HPO,phenotype,PHENOTYPE_848
849,849,849,849,849,849,849,849,33459,Decreased circulating apolipoprotein concentration,HPO,phenotype,PHENOTYPE_849
850,850,850,850,850,850,850,850,2483,Bulbar signs,HPO,phenotype,PHENOTYPE_850
851,851,851,851,851,851,851,851,6000207,Elevated CSF thymine concentration,HPO,phenotype,PHENOTYPE_851
852,852,852,852,852,852,852,852,6088,1-5 finger complete cutaneous syndactyly,HPO,phenotype,PHENOTYPE_852
853,853,853,853,853,853,853,853,40223,Pulmonary hemorrhage,HPO,phenotype,PHENOTYPE_853
854,854,854,854,854,854,854,854,25624,Reduced proportion of CD4+ effector memory T cells,HPO,phenotype,PHENOTYPE_854
855,855,855,855,855,855,855,855,1088,Brushfield spots,HPO,phenotype,PHENOTYPE_855
856,856,856,856,856,856,856,856,5200352,Hypnagogic sleep paralysis,HPO,phenotype,PHENOTYPE_856
857,857,857,857,857,857,857,857,1829,Foot polydactyly,HPO,phenotype,PHENOTYPE_857
858,858,858,858,858,858,858,858,100690,Mosaic central corneal dystrophy,HPO,phenotype,PHENOTYPE_858
859,859,859,859,859,859,859,859,448,Prominent nose,HPO,phenotype,PHENOTYPE_859
860,860,860,860,860,860,860,860,2172,Postural instability,HPO,phenotype,PHENOTYPE_860
861,861,861,861,861,861,861,861,12595,Mild proteinuria,HPO,phenotype,PHENOTYPE_861
862,862,862,862,862,862,862,862,32652,Elevated CSF chitotriosidase 1 concentration,HPO,phenotype,PHENOTYPE_862
863,863,863,863,863,863,863,863,33556,Anti-nucleoporin 62 antibody positivity,HPO,phenotype,PHENOTYPE_863
864,864,864,864,864,864,864,864,430013,Absent palatine bone ossification,HPO,phenotype,PHENOTYPE_864
865,865,865,865,865,865,865,865,25244,Subretinal pigment epithelium hemorrhage,HPO,phenotype,PHENOTYPE_865
866,866,866,866,866,866,866,866,34885,Abnormal urinary uromodulin level,HPO,phenotype,PHENOTYPE_866
867,867,867,867,867,867,867,867,12309,Cutaneous amyloidosis,HPO,phenotype,PHENOTYPE_867
868,868,868,868,868,868,868,868,500092,Orbital rhabdomyosarcoma,HPO,phenotype,PHENOTYPE_868
869,869,869,869,869,869,869,869,32223,Blood group,HPO,phenotype,PHENOTYPE_869
870,870,870,870,870,870,870,870,33146,Elevated circulating methylsuccinic acid concentration,HPO,phenotype,PHENOTYPE_870
871,871,871,871,871,871,871,871,30964,Abnormal aortic physiology,HPO,phenotype,PHENOTYPE_871
872,872,872,872,872,872,872,872,1103,Abnormal macular morphology,HPO,phenotype,PHENOTYPE_872
873,873,873,873,873,873,873,873,1392,Abnormality of the liver,HPO,phenotype,PHENOTYPE_873
874,874,874,874,874,874,874,874,12683,Pineal cyst,HPO,phenotype,PHENOTYPE_874
875,875,875,875,875,875,875,875,34302,Megalopapilla,HPO,phenotype,PHENOTYPE_875
876,876,876,876,876,876,876,876,12102,Abnormal mitochondrial number,HPO,phenotype,PHENOTYPE_876
877,877,877,877,877,877,877,877,8467,Thoracic hemivertebrae,HPO,phenotype,PHENOTYPE_877
878,878,878,878,878,878,878,878,33723,Abnormal cerebral venous sinus morphology,HPO,phenotype,PHENOTYPE_878
879,879,879,879,879,879,879,879,25233,Sleep paralysis,HPO,phenotype,PHENOTYPE_879
880,880,880,880,880,880,880,880,5852,Limited elbow extension and supination,HPO,phenotype,PHENOTYPE_880
881,881,881,881,881,881,881,881,9803,Short phalanx of finger,HPO,phenotype,PHENOTYPE_881
882,882,882,882,882,882,882,882,10746,Hypoplasia of the phalanges of the toes,HPO,phenotype,PHENOTYPE_882
883,883,883,883,883,883,883,883,34709,Uterine adenofibroma,HPO,phenotype,PHENOTYPE_883
884,884,884,884,884,884,884,884,33571,Peripheral lung neovascularity,HPO,phenotype,PHENOTYPE_884
885,885,885,885,885,885,885,885,500182,Hypotaurinemia,HPO,phenotype,PHENOTYPE_885
886,886,886,886,886,886,886,886,200133,Lumbosacral meningocele,HPO,phenotype,PHENOTYPE_886
887,887,887,887,887,887,887,887,30889,Congenital shortened small intestine,HPO,phenotype,PHENOTYPE_887
888,888,888,888,888,888,888,888,10786,Urinary tract neoplasm,HPO,phenotype,PHENOTYPE_888
889,889,889,889,889,889,889,889,35000,Reduced reticular lamina anchoring fibril density,HPO,phenotype,PHENOTYPE_889
890,890,890,890,890,890,890,890,599,Abnormality of the frontal hairline,HPO,phenotype,PHENOTYPE_890
891,891,891,891,891,891,891,891,34569,Ameliorated by pyridoxal phosphate,HPO,phenotype,PHENOTYPE_891
892,892,892,892,892,892,892,892,34388,Hilar lymph node enlargement,HPO,phenotype,PHENOTYPE_892
893,893,893,893,893,893,893,893,2332,Lack of peer relationships,HPO,phenotype,PHENOTYPE_893
894,894,894,894,894,894,894,894,11047,Agenesis of primary mandibular central incisor,HPO,phenotype,PHENOTYPE_894
895,895,895,895,895,895,895,895,100596,Absent nares,HPO,phenotype,PHENOTYPE_895
896,896,896,896,896,896,896,896,464,Abnormality of the neck,HPO,phenotype,PHENOTYPE_896
897,897,897,897,897,897,897,897,8796,Femoral retroversion,HPO,phenotype,PHENOTYPE_897
898,898,898,898,898,898,898,898,33179,Elevated circulating aconitic acid concentration,HPO,phenotype,PHENOTYPE_898
899,899,899,899,899,899,899,899,30974,Cryptozoospermia,HPO,phenotype,PHENOTYPE_899
900,900,900,900,900,900,900,900,500091,Lymphangioma of the orbit,HPO,phenotype,PHENOTYPE_900
901,901,901,901,901,901,901,901,25239,Subhyaloid hemorrhage,HPO,phenotype,PHENOTYPE_901
902,902,902,902,902,902,902,902,11171,Simple febrile seizure,HPO,phenotype,PHENOTYPE_902
903,903,903,903,903,903,903,903,5274,Prominent nasal tip,HPO,phenotype,PHENOTYPE_903
904,904,904,904,904,904,904,904,11481,Abnormal lacrimal duct morphology,HPO,phenotype,PHENOTYPE_904
905,905,905,905,905,905,905,905,33184,Triggered by infection,HPO,phenotype,PHENOTYPE_905
906,906,906,906,906,906,906,906,3327,Axial muscle weakness,HPO,phenotype,PHENOTYPE_906
907,907,907,907,907,907,907,907,8166,Decreased beta-galactosidase activity,HPO,phenotype,PHENOTYPE_907
908,908,908,908,908,908,908,908,31203,Fatty casts,HPO,phenotype,PHENOTYPE_908
909,909,909,909,909,909,909,909,31291,Ichthyosis follicularis,HPO,phenotype,PHENOTYPE_909
910,910,910,910,910,910,910,910,33968,Interlobular vein intima/media granulomatous venulitis,HPO,phenotype,PHENOTYPE_910
911,911,911,911,911,911,911,911,1199,Triphalangeal thumb,HPO,phenotype,PHENOTYPE_911
912,912,912,912,912,912,912,912,3154,Increased circulating ACTH level,HPO,phenotype,PHENOTYPE_912
913,913,913,913,913,913,913,913,31863,Bloodstream infectious agent,HPO,phenotype,PHENOTYPE_913
914,914,914,914,914,914,914,914,31555,Reduced granulocyte CD59 level,HPO,phenotype,PHENOTYPE_914
915,915,915,915,915,915,915,915,32617,Renal interstitial hemorrhage,HPO,phenotype,PHENOTYPE_915
916,916,916,916,916,916,916,916,5606,Hyperpigmented nevi and streak,HPO,phenotype,PHENOTYPE_916
917,917,917,917,917,917,917,917,30543,Unaided visual acuity 0.8 LogMAR,HPO,phenotype,PHENOTYPE_917
918,918,918,918,918,918,918,918,100751,Esophageal neoplasm,HPO,phenotype,PHENOTYPE_918
919,919,919,919,919,919,919,919,12771,Increased arm span,HPO,phenotype,PHENOTYPE_919
920,920,920,920,920,920,920,920,5200203,Proprioceptive hallucination,HPO,phenotype,PHENOTYPE_920
921,921,921,921,921,921,921,921,31129,Impaired phorbol myristate acetate-induced platelet aggregation,HPO,phenotype,PHENOTYPE_921
922,922,922,922,922,922,922,922,32964,Uric acid crystalluria,HPO,phenotype,PHENOTYPE_922
923,923,923,923,923,923,923,923,32244,Decreased serum thromboxane B2,HPO,phenotype,PHENOTYPE_923
924,924,924,924,924,924,924,924,6999,Basal ganglia gliosis,HPO,phenotype,PHENOTYPE_924
925,925,925,925,925,925,925,925,41063,Chronic decreased circulating IgG2,HPO,phenotype,PHENOTYPE_925
926,926,926,926,926,926,926,926,10464,Streak ovary,HPO,phenotype,PHENOTYPE_926
927,927,927,927,927,927,927,927,30741,Mediastinal teratoma,HPO,phenotype,PHENOTYPE_927
928,928,928,928,928,928,928,928,9978,Complete duplication of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_928
929,929,929,929,929,929,929,929,33622,Migratory erythematous plaque,HPO,phenotype,PHENOTYPE_929
930,930,930,930,930,930,930,930,78,Abnormality of the genital system,HPO,phenotype,PHENOTYPE_930
931,931,931,931,931,931,931,931,11368,Epidermal thickening,HPO,phenotype,PHENOTYPE_931
932,932,932,932,932,932,932,932,34843,Ureteral hamartoma,HPO,phenotype,PHENOTYPE_932
933,933,933,933,933,933,933,933,32390,Periventricular ribbonlike heterotopia,HPO,phenotype,PHENOTYPE_933
934,934,934,934,934,934,934,934,33026,White oral mucosal macule,HPO,phenotype,PHENOTYPE_934
935,935,935,935,935,935,935,935,400004,Long ear,HPO,phenotype,PHENOTYPE_935
936,936,936,936,936,936,936,936,6000083,Reduced hepatic dihydropyrimidinase activity,HPO,phenotype,PHENOTYPE_936
937,937,937,937,937,937,937,937,30884,Gastrojejunal tube feeding in infancy,HPO,phenotype,PHENOTYPE_937
938,938,938,938,938,938,938,938,10784,Uterine neoplasm,HPO,phenotype,PHENOTYPE_938
939,939,939,939,939,939,939,939,2048,Renal cortical atrophy,HPO,phenotype,PHENOTYPE_939
940,940,940,940,940,940,940,940,11182,Interictal epileptiform activity,HPO,phenotype,PHENOTYPE_940
941,941,941,941,941,941,941,941,5456,Absent ethmoidal sinuses,HPO,phenotype,PHENOTYPE_941
942,942,942,942,942,942,942,942,6000057,Dermal multinucleated giant cells,HPO,phenotype,PHENOTYPE_942
943,943,943,943,943,943,943,943,836,Hyperthyroidism,HPO,phenotype,PHENOTYPE_943
944,944,944,944,944,944,944,944,11576,Intermediate atrioventricular canal defect,HPO,phenotype,PHENOTYPE_944
945,945,945,945,945,945,945,945,31256,Optic nerve arteriovenous malformation,HPO,phenotype,PHENOTYPE_945
946,946,946,946,946,946,946,946,500035,Nasolacrimal sac granuloma,HPO,phenotype,PHENOTYPE_946
947,947,947,947,947,947,947,947,839,Pituitary dwarfism,HPO,phenotype,PHENOTYPE_947
948,948,948,948,948,948,948,948,34731,Elevated circulating S-adenosyl-L-methionine concentration,HPO,phenotype,PHENOTYPE_948
949,949,949,949,949,949,949,949,3051,Enlarged metaphyses,HPO,phenotype,PHENOTYPE_949
950,950,950,950,950,950,950,950,31478,Abnormal mitral valve annulus morphology,HPO,phenotype,PHENOTYPE_950
951,951,951,951,951,951,951,951,3071,Flattened epiphysis,HPO,phenotype,PHENOTYPE_951
952,952,952,952,952,952,952,952,787,Nephrolithiasis,HPO,phenotype,PHENOTYPE_952
953,953,953,953,953,953,953,953,6000402,Elevated circulating 27-hydroxycholesterol concentration,HPO,phenotype,PHENOTYPE_953
954,954,954,954,954,954,954,954,40308,Male anorgasmia,HPO,phenotype,PHENOTYPE_954
955,955,955,955,955,955,955,955,5200415,Persecutory delusion,HPO,phenotype,PHENOTYPE_955
956,956,956,956,956,956,956,956,34676,Extension contracture of toe,HPO,phenotype,PHENOTYPE_956
957,957,957,957,957,957,957,957,31877,Elevated circulating hepcidin concentration,HPO,phenotype,PHENOTYPE_957
958,958,958,958,958,958,958,958,34460,Increased CSF uracil concentration,HPO,phenotype,PHENOTYPE_958
959,959,959,959,959,959,959,959,31241,Subfoveal choroidal neovascularization,HPO,phenotype,PHENOTYPE_959
960,960,960,960,960,960,960,960,4911,Episodic metabolic acidosis,HPO,phenotype,PHENOTYPE_960
961,961,961,961,961,961,961,961,33217,Perihilar glomerular hyalinosis,HPO,phenotype,PHENOTYPE_961
962,962,962,962,962,962,962,962,430018,Abnormality of nasal musculature,HPO,phenotype,PHENOTYPE_962
963,963,963,963,963,963,963,963,9664,Absent epiphysis of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_963
964,964,964,964,964,964,964,964,20263,Absent germinal center tingible body macrophages,HPO,phenotype,PHENOTYPE_964
965,965,965,965,965,965,965,965,11291,EEG with central sharp slow waves,HPO,phenotype,PHENOTYPE_965
966,966,966,966,966,966,966,966,3491,Elevated urine pyrophosphate,HPO,phenotype,PHENOTYPE_966
967,967,967,967,967,967,967,967,8946,Pelvic girdle amyotrophy,HPO,phenotype,PHENOTYPE_967
968,968,968,968,968,968,968,968,31472,Risky behavior,HPO,phenotype,PHENOTYPE_968
969,969,969,969,969,969,969,969,10169,Pseudoepiphyses of the toes,HPO,phenotype,PHENOTYPE_969
970,970,970,970,970,970,970,970,11473,Villous atrophy,HPO,phenotype,PHENOTYPE_970
971,971,971,971,971,971,971,971,32345,Elevated cancer Ag 19-9 level,HPO,phenotype,PHENOTYPE_971
972,972,972,972,972,972,972,972,2612,Congenital hepatic fibrosis,HPO,phenotype,PHENOTYPE_972
973,973,973,973,973,973,973,973,6000870,Metaphyseal chevron deformity,HPO,phenotype,PHENOTYPE_973
974,974,974,974,974,974,974,974,4000007,Bronchoconstriction,HPO,phenotype,PHENOTYPE_974
975,975,975,975,975,975,975,975,33737,Grade III vesicoureteral reflux,HPO,phenotype,PHENOTYPE_975
976,976,976,976,976,976,976,976,34478,Dilated vas deferens,HPO,phenotype,PHENOTYPE_976
977,977,977,977,977,977,977,977,733,Motor stereotypy,HPO,phenotype,PHENOTYPE_977
978,978,978,978,978,978,978,978,32709,Focal aware cognitive seizure with dysgraphia/agraphia,HPO,phenotype,PHENOTYPE_978
979,979,979,979,979,979,979,979,1684,Secundum atrial septal defect,HPO,phenotype,PHENOTYPE_979
980,980,980,980,980,980,980,980,30587,Abnormal Hardy-Rand-Rittler plate test,HPO,phenotype,PHENOTYPE_980
981,981,981,981,981,981,981,981,9107,Abnormal ossification involving the femoral head and neck,HPO,phenotype,PHENOTYPE_981
982,982,982,982,982,982,982,982,6000908,Positive bloodstream Coxsackievirus nucleic acid pathogen test,HPO,phenotype,PHENOTYPE_982
983,983,983,983,983,983,983,983,100363,Aplasia of the phalanges of the 4th toe,HPO,phenotype,PHENOTYPE_983
984,984,984,984,984,984,984,984,100931,Sclerosis of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_984
985,985,985,985,985,985,985,985,31976,Increased vertical cup-to-disc ratio - 0.8,HPO,phenotype,PHENOTYPE_985
986,986,986,986,986,986,986,986,32888,Focal impaired awareness cognitive seizure with forced thinking,HPO,phenotype,PHENOTYPE_986
987,987,987,987,987,987,987,987,6000644,Anti-lamin C antibody positivity,HPO,phenotype,PHENOTYPE_987
988,988,988,988,988,988,988,988,6000953,Sorbitol ingestion,HPO,phenotype,PHENOTYPE_988
989,989,989,989,989,989,989,989,4369,Decreased circulating purine concentration,HPO,phenotype,PHENOTYPE_989
990,990,990,990,990,990,990,990,6714,Aplasia/Hypoplasia of the sternum,HPO,phenotype,PHENOTYPE_990
991,991,991,991,991,991,991,991,4000005,Pericardial late gadolinium enhancement,HPO,phenotype,PHENOTYPE_991
992,992,992,992,992,992,992,992,500044,Upper eyelid retraction,HPO,phenotype,PHENOTYPE_992
993,993,993,993,993,993,993,993,902,Rib fusion,HPO,phenotype,PHENOTYPE_993
994,994,994,994,994,994,994,994,1036,Parakeratosis,HPO,phenotype,PHENOTYPE_994
995,995,995,995,995,995,995,995,3928,Cortical thickening of humeral diaphysis,HPO,phenotype,PHENOTYPE_995
996,996,996,996,996,996,996,996,10414,Broad distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_996
997,997,997,997,997,997,997,997,25750,Asymmetric blood pressure between legs,HPO,phenotype,PHENOTYPE_997
998,998,998,998,998,998,998,998,20152,Distal joint hypermobility,HPO,phenotype,PHENOTYPE_998
999,999,999,999,999,999,999,999,100370,Aplasia/Hypoplasia of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_999
1000,1000,1000,1000,1000,1000,1000,1000,5092,Streaky metaphyseal sclerosis,HPO,phenotype,PHENOTYPE_1000
1001,1001,1001,1001,1001,1001,1001,1001,32526,Ameliorated by acetylcholinesterase inhibitor,HPO,phenotype,PHENOTYPE_1001
1002,1002,1002,1002,1002,1002,1002,1002,6516,Hypersensitivity pneumonitis,HPO,phenotype,PHENOTYPE_1002
1003,1003,1003,1003,1003,1003,1003,1003,33078,Decreased circulating free T4 concentration,HPO,phenotype,PHENOTYPE_1003
1004,1004,1004,1004,1004,1004,1004,1004,12551,Absent neutrophil specific granules,HPO,phenotype,PHENOTYPE_1004
1005,1005,1005,1005,1005,1005,1005,1005,25110,Placoid macular lesion,HPO,phenotype,PHENOTYPE_1005
1006,1006,1006,1006,1006,1006,1006,1006,11072,Rootless teeth,HPO,phenotype,PHENOTYPE_1006
1007,1007,1007,1007,1007,1007,1007,1007,41153,Fractured ankle,HPO,phenotype,PHENOTYPE_1007
1008,1008,1008,1008,1008,1008,1008,1008,5200328,Diminishment of emotional expression,HPO,phenotype,PHENOTYPE_1008
1009,1009,1009,1009,1009,1009,1009,1009,31257,Arteriovenous malformation of the maxilla,HPO,phenotype,PHENOTYPE_1009
1010,1010,1010,1010,1010,1010,1010,1010,1059,Pterygium,HPO,phenotype,PHENOTYPE_1010
1011,1011,1011,1011,1011,1011,1011,1011,34838,Cleavage at junction of stratum corneum and stratum granulosum,HPO,phenotype,PHENOTYPE_1011
1012,1012,1012,1012,1012,1012,1012,1012,5817,Postaxial polysyndactyly of foot,HPO,phenotype,PHENOTYPE_1012
1013,1013,1013,1013,1013,1013,1013,1013,12502,Abnormality of the internal capsule,HPO,phenotype,PHENOTYPE_1013
1014,1014,1014,1014,1014,1014,1014,1014,12073,Abnormal urinary acylglycine profile,HPO,phenotype,PHENOTYPE_1014
1015,1015,1015,1015,1015,1015,1015,1015,4220,Short middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_1015
1016,1016,1016,1016,1016,1016,1016,1016,30716,Acrania,HPO,phenotype,PHENOTYPE_1016
1017,1017,1017,1017,1017,1017,1017,1017,25714,Cerebral cortical microinfarct,HPO,phenotype,PHENOTYPE_1017
1018,1018,1018,1018,1018,1018,1018,1018,8628,Abnormal stapes morphology,HPO,phenotype,PHENOTYPE_1018
1019,1019,1019,1019,1019,1019,1019,1019,488,Retinopathy,HPO,phenotype,PHENOTYPE_1019
1020,1020,1020,1020,1020,1020,1020,1020,25797,Unilateral sensorineural hearing impairment,HPO,phenotype,PHENOTYPE_1020
1021,1021,1021,1021,1021,1021,1021,1021,11591,Left aortic arch with cervical origin of the right subclavian artery,HPO,phenotype,PHENOTYPE_1021
1022,1022,1022,1022,1022,1022,1022,1022,2714,Downturned corners of mouth,HPO,phenotype,PHENOTYPE_1022
1023,1023,1023,1023,1023,1023,1023,1023,6276,Hyperechogenic pancreas,HPO,phenotype,PHENOTYPE_1023
1024,1024,1024,1024,1024,1024,1024,1024,32326,Methicillin-resistant Staphylococcus aureus infection,HPO,phenotype,PHENOTYPE_1024
1025,1025,1025,1025,1025,1025,1025,1025,25188,Retinal vasculitis,HPO,phenotype,PHENOTYPE_1025
1026,1026,1026,1026,1026,1026,1026,1026,11144,Age-related posterior subcapsular cataract,HPO,phenotype,PHENOTYPE_1026
1027,1027,1027,1027,1027,1027,1027,1027,33563,Anti-tissue transglutaminase antibody positivity,HPO,phenotype,PHENOTYPE_1027
1028,1028,1028,1028,1028,1028,1028,1028,100750,Atelectasis,HPO,phenotype,PHENOTYPE_1028
1029,1029,1029,1029,1029,1029,1029,1029,31571,Paramedian facial cleft,HPO,phenotype,PHENOTYPE_1029
1030,1030,1030,1030,1030,1030,1030,1030,10713,1-5 toe syndactyly,HPO,phenotype,PHENOTYPE_1030
1031,1031,1031,1031,1031,1031,1031,1031,32078,Angel-shaped phalanx,HPO,phenotype,PHENOTYPE_1031
1032,1032,1032,1032,1032,1032,1032,1032,3239,Phosphoethanolaminuria,HPO,phenotype,PHENOTYPE_1032
1033,1033,1033,1033,1033,1033,1033,1033,6001089,Long hairstyle,HPO,phenotype,PHENOTYPE_1033
1034,1034,1034,1034,1034,1034,1034,1034,176,Submucous cleft hard palate,HPO,phenotype,PHENOTYPE_1034
1035,1035,1035,1035,1035,1035,1035,1035,100212,Triangular epiphysis of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_1035
1036,1036,1036,1036,1036,1036,1036,1036,9306,Triangular shaped distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_1036
1037,1037,1037,1037,1037,1037,1037,1037,8361,Corticospinal tract pallor,HPO,phenotype,PHENOTYPE_1037
1038,1038,1038,1038,1038,1038,1038,1038,3141,Increased LDL cholesterol concentration,HPO,phenotype,PHENOTYPE_1038
1039,1039,1039,1039,1039,1039,1039,1039,410265,Supraglottic hemangioma,HPO,phenotype,PHENOTYPE_1039
1040,1040,1040,1040,1040,1040,1040,1040,32370,Blood group A,HPO,phenotype,PHENOTYPE_1040
1041,1041,1041,1041,1041,1041,1041,1041,6001014,Hiker's feet,HPO,phenotype,PHENOTYPE_1041
1042,1042,1042,1042,1042,1042,1042,1042,32776,Focal aware autonomic seizure with lacrimation,HPO,phenotype,PHENOTYPE_1042
1043,1043,1043,1043,1043,1043,1043,1043,10932,Abnormal circulating nucleobase concentration,HPO,phenotype,PHENOTYPE_1043
1044,1044,1044,1044,1044,1044,1044,1044,6000119,Elevated urinary dihydrothymine level,HPO,phenotype,PHENOTYPE_1044
1045,1045,1045,1045,1045,1045,1045,1045,30380,Decreased proportion of transitional B cells,HPO,phenotype,PHENOTYPE_1045
1046,1046,1046,1046,1046,1046,1046,1046,31842,Lymphangiectasis,HPO,phenotype,PHENOTYPE_1046
1047,1047,1047,1047,1047,1047,1047,1047,500074,Dissociated vertical deviation,HPO,phenotype,PHENOTYPE_1047
1048,1048,1048,1048,1048,1048,1048,1048,3000022,Abnormal external ear cartilage morphology,HPO,phenotype,PHENOTYPE_1048
1049,1049,1049,1049,1049,1049,1049,1049,8664,Urethral sphincter sclerosis,HPO,phenotype,PHENOTYPE_1049
1050,1050,1050,1050,1050,1050,1050,1050,10558,Abnormality of the clivus,HPO,phenotype,PHENOTYPE_1050
1051,1051,1051,1051,1051,1051,1051,1051,8180,Mildly elevated creatine kinase,HPO,phenotype,PHENOTYPE_1051
1052,1052,1052,1052,1052,1052,1052,1052,25441,Achilles tendon calcification,HPO,phenotype,PHENOTYPE_1052
1053,1053,1053,1053,1053,1053,1053,1053,41185,Fractured middle phalanx of manual digit 5,HPO,phenotype,PHENOTYPE_1053
1054,1054,1054,1054,1054,1054,1054,1054,5922,Abnormal hand morphology,HPO,phenotype,PHENOTYPE_1054
1055,1055,1055,1055,1055,1055,1055,1055,6000274,2--hydroxyphenylacetic aciduria,HPO,phenotype,PHENOTYPE_1055
1056,1056,1056,1056,1056,1056,1056,1056,4923,Hyperphenylalaninemia,HPO,phenotype,PHENOTYPE_1056
1057,1057,1057,1057,1057,1057,1057,1057,6298,Prolonged bleeding after dental extraction,HPO,phenotype,PHENOTYPE_1057
1058,1058,1058,1058,1058,1058,1058,1058,9416,Ivory epiphyses of the 3rd finger,HPO,phenotype,PHENOTYPE_1058
1059,1059,1059,1059,1059,1059,1059,1059,10923,Anterior subcapsular cataract,HPO,phenotype,PHENOTYPE_1059
1060,1060,1060,1060,1060,1060,1060,1060,6503,Aplasia/hypoplasia involving forearm bones,HPO,phenotype,PHENOTYPE_1060
1061,1061,1061,1061,1061,1061,1061,1061,9722,Dental enamel pits,HPO,phenotype,PHENOTYPE_1061
1062,1062,1062,1062,1062,1062,1062,1062,25232,Bursitis,HPO,phenotype,PHENOTYPE_1062
1063,1063,1063,1063,1063,1063,1063,1063,10231,Enlarged epiphyses of the phalanges of the hand,HPO,phenotype,PHENOTYPE_1063
1064,1064,1064,1064,1064,1064,1064,1064,12650,Perisylvian polymicrogyria,HPO,phenotype,PHENOTYPE_1064
1065,1065,1065,1065,1065,1065,1065,1065,100042,Broad 4th toe,HPO,phenotype,PHENOTYPE_1065
1066,1066,1066,1066,1066,1066,1066,1066,12728,Fusiform descending thoracic aortic aneurysm,HPO,phenotype,PHENOTYPE_1066
1067,1067,1067,1067,1067,1067,1067,1067,9690,Fragmentation of thumb epiphysis,HPO,phenotype,PHENOTYPE_1067
1068,1068,1068,1068,1068,1068,1068,1068,34287,Afibrinogenemia,HPO,phenotype,PHENOTYPE_1068
1069,1069,1069,1069,1069,1069,1069,1069,9527,Enlarged epiphysis of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_1069
1070,1070,1070,1070,1070,1070,1070,1070,34406,Elevated CSF angiotensin-converting enzyme concentration,HPO,phenotype,PHENOTYPE_1070
1071,1071,1071,1071,1071,1071,1071,1071,3674,Onset,HPO,phenotype,PHENOTYPE_1071
1072,1072,1072,1072,1072,1072,1072,1072,10228,Absent epiphyses of the phalanges of the hand,HPO,phenotype,PHENOTYPE_1072
1073,1073,1073,1073,1073,1073,1073,1073,4004,Irregular radial epiphyses,HPO,phenotype,PHENOTYPE_1073
1074,1074,1074,1074,1074,1074,1074,1074,9519,Ivory epiphysis of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_1074
1075,1075,1075,1075,1075,1075,1075,1075,30628,Foveal subretinal hyporeflective spaces on macular OCT,HPO,phenotype,PHENOTYPE_1075
1076,1076,1076,1076,1076,1076,1076,1076,32005,Hemidystonia,HPO,phenotype,PHENOTYPE_1076
1077,1077,1077,1077,1077,1077,1077,1077,4823,Anisopoikilocytosis,HPO,phenotype,PHENOTYPE_1077
1078,1078,1078,1078,1078,1078,1078,1078,12475,Decreased circulating level of specific antibody,HPO,phenotype,PHENOTYPE_1078
1079,1079,1079,1079,1079,1079,1079,1079,30412,Ileal adenocarcinoma,HPO,phenotype,PHENOTYPE_1079
1080,1080,1080,1080,1080,1080,1080,1080,34857,Typified by highly variable age of onset,HPO,phenotype,PHENOTYPE_1080
1081,1081,1081,1081,1081,1081,1081,1081,100882,Fibrous hamartoma,HPO,phenotype,PHENOTYPE_1081
1082,1082,1082,1082,1082,1082,1082,1082,5879,Congenital finger flexion contractures,HPO,phenotype,PHENOTYPE_1082
1083,1083,1083,1083,1083,1083,1083,1083,32197,Deep S wave in lead V5,HPO,phenotype,PHENOTYPE_1083
1084,1084,1084,1084,1084,1084,1084,1084,10271,Enlarged epiphyses of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_1084
1085,1085,1085,1085,1085,1085,1085,1085,10255,Stippling of the epiphyses of the distal phalanges of the hand,HPO,phenotype,PHENOTYPE_1085
1086,1086,1086,1086,1086,1086,1086,1086,8293,Long-chain dicarboxylic aciduria,HPO,phenotype,PHENOTYPE_1086
1087,1087,1087,1087,1087,1087,1087,1087,20146,Calcium carbonate crystalluria,HPO,phenotype,PHENOTYPE_1087
1088,1088,1088,1088,1088,1088,1088,1088,33156,Elevated urine L-alloisoleucine level,HPO,phenotype,PHENOTYPE_1088
1089,1089,1089,1089,1089,1089,1089,1089,4000088,Facial expressions that do not match the context,HPO,phenotype,PHENOTYPE_1089
1090,1090,1090,1090,1090,1090,1090,1090,6001173,Pain at the lateral aspect of the elbow,HPO,phenotype,PHENOTYPE_1090
1091,1091,1091,1091,1091,1091,1091,1091,7448,Hyperkeratosis over edematous areas,HPO,phenotype,PHENOTYPE_1091
1092,1092,1092,1092,1092,1092,1092,1092,10297,Bifid tongue,HPO,phenotype,PHENOTYPE_1092
1093,1093,1093,1093,1093,1093,1093,1093,4752,Congenital atrioventricular dissociation,HPO,phenotype,PHENOTYPE_1093
1094,1094,1094,1094,1094,1094,1094,1094,6000783,Reduced tissue palmitoyl-protein thioesterase activity,HPO,phenotype,PHENOTYPE_1094
1095,1095,1095,1095,1095,1095,1095,1095,30535,Abnormal pinhole visual acuity test,HPO,phenotype,PHENOTYPE_1095
1096,1096,1096,1096,1096,1096,1096,1096,9821,Forearm undergrowth,HPO,phenotype,PHENOTYPE_1096
1097,1097,1097,1097,1097,1097,1097,1097,30773,Internuclear ophthalmoplegia,HPO,phenotype,PHENOTYPE_1097
1098,1098,1098,1098,1098,1098,1098,1098,31774,Posterior communicating artery infundibulum,HPO,phenotype,PHENOTYPE_1098
1099,1099,1099,1099,1099,1099,1099,1099,1071,Angiokeratoma corporis diffusum,HPO,phenotype,PHENOTYPE_1099
1100,1100,1100,1100,1100,1100,1100,1100,25008,Tracheal tug on inspiration,HPO,phenotype,PHENOTYPE_1100
1101,1101,1101,1101,1101,1101,1101,1101,25771,Ruminations,HPO,phenotype,PHENOTYPE_1101
1102,1102,1102,1102,1102,1102,1102,1102,34021,Anti-HLA-A IgG3 antibody positivity,HPO,phenotype,PHENOTYPE_1102
1103,1103,1103,1103,1103,1103,1103,1103,504,Abnormality of vision,HPO,phenotype,PHENOTYPE_1103
1104,1104,1104,1104,1104,1104,1104,1104,33220,2-ethylhydracylic aciduria,HPO,phenotype,PHENOTYPE_1104
1105,1105,1105,1105,1105,1105,1105,1105,200084,Giant cell hepatitis,HPO,phenotype,PHENOTYPE_1105
1106,1106,1106,1106,1106,1106,1106,1106,6000139,Splinter hemorrhages,HPO,phenotype,PHENOTYPE_1106
1107,1107,1107,1107,1107,1107,1107,1107,33225,Glomerular parietal epithelial cell hypertrophy,HPO,phenotype,PHENOTYPE_1107
1108,1108,1108,1108,1108,1108,1108,1108,30719,Unguarded tricuspid valve,HPO,phenotype,PHENOTYPE_1108
1109,1109,1109,1109,1109,1109,1109,1109,8417,Vertebral hypoplasia,HPO,phenotype,PHENOTYPE_1109
1110,1110,1110,1110,1110,1110,1110,1110,1276,Hypertonia,HPO,phenotype,PHENOTYPE_1110
1111,1111,1111,1111,1111,1111,1111,1111,40174,Abnormality of extrinsic muscle of tongue,HPO,phenotype,PHENOTYPE_1111
1112,1112,1112,1112,1112,1112,1112,1112,10123,Triangular epiphyses of the hallux,HPO,phenotype,PHENOTYPE_1112
1113,1113,1113,1113,1113,1113,1113,1113,12332,Abnormal autonomic nervous system physiology,HPO,phenotype,PHENOTYPE_1113
1114,1114,1114,1114,1114,1114,1114,1114,11736,Primary hyperaldosteronism,HPO,phenotype,PHENOTYPE_1114
1115,1115,1115,1115,1115,1115,1115,1115,11547,Absent left sided atrioventricular connection,HPO,phenotype,PHENOTYPE_1115
1116,1116,1116,1116,1116,1116,1116,1116,33005,Plantar warts,HPO,phenotype,PHENOTYPE_1116
1117,1117,1117,1117,1117,1117,1117,1117,3549,Abnormality of connective tissue,HPO,phenotype,PHENOTYPE_1117
1118,1118,1118,1118,1118,1118,1118,1118,30066,Ependymoblastoma,HPO,phenotype,PHENOTYPE_1118
1119,1119,1119,1119,1119,1119,1119,1119,6000075,Subcutaneous arteriolar thrombosis,HPO,phenotype,PHENOTYPE_1119
1120,1120,1120,1120,1120,1120,1120,1120,40104,Osseous stenosis of the external auditory canal,HPO,phenotype,PHENOTYPE_1120
1121,1121,1121,1121,1121,1121,1121,1121,41220,Fractured facial bone,HPO,phenotype,PHENOTYPE_1121
1122,1122,1122,1122,1122,1122,1122,1122,33517,Addictive heroin use,HPO,phenotype,PHENOTYPE_1122
1123,1123,1123,1123,1123,1123,1123,1123,2805,Accelerated bone age after puberty,HPO,phenotype,PHENOTYPE_1123
1124,1124,1124,1124,1124,1124,1124,1124,30132,Absence of large von Willebrand factor multimers,HPO,phenotype,PHENOTYPE_1124
1125,1125,1125,1125,1125,1125,1125,1125,694,Odontodysplasia,HPO,phenotype,PHENOTYPE_1125
1126,1126,1126,1126,1126,1126,1126,1126,30715,Bronchial atresia,HPO,phenotype,PHENOTYPE_1126
1127,1127,1127,1127,1127,1127,1127,1127,4339,Abnormal circulating sulfur amino acid concentration,HPO,phenotype,PHENOTYPE_1127
1128,1128,1128,1128,1128,1128,1128,1128,410190,Decreased glucose-6-phosphate dehydrogenase level in leukocytes,HPO,phenotype,PHENOTYPE_1128
1129,1129,1129,1129,1129,1129,1129,1129,20118,Radial artery aplasia,HPO,phenotype,PHENOTYPE_1129
1130,1130,1130,1130,1130,1130,1130,1130,34715,Reduced uroporphyrinogen decarboxylase activity,HPO,phenotype,PHENOTYPE_1130
1131,1131,1131,1131,1131,1131,1131,1131,41222,Fractured fibula,HPO,phenotype,PHENOTYPE_1131
1132,1132,1132,1132,1132,1132,1132,1132,31780,Eosinophilic ascites,HPO,phenotype,PHENOTYPE_1132
1133,1133,1133,1133,1133,1133,1133,1133,7697,Hypoplasia of the lower eyelids,HPO,phenotype,PHENOTYPE_1133
1134,1134,1134,1134,1134,1134,1134,1134,12575,Abnormal nephron morphology,HPO,phenotype,PHENOTYPE_1134
1135,1135,1135,1135,1135,1135,1135,1135,32067,Elevated serum bicarbonate concentration,HPO,phenotype,PHENOTYPE_1135
1136,1136,1136,1136,1136,1136,1136,1136,25371,Delayed ossification of the sacrum,HPO,phenotype,PHENOTYPE_1136
1137,1137,1137,1137,1137,1137,1137,1137,10035,Aplasia of the 1st metacarpal,HPO,phenotype,PHENOTYPE_1137
1138,1138,1138,1138,1138,1138,1138,1138,34469,Decreased stool elastase level,HPO,phenotype,PHENOTYPE_1138
1139,1139,1139,1139,1139,1139,1139,1139,1997,Gout,HPO,phenotype,PHENOTYPE_1139
1140,1140,1140,1140,1140,1140,1140,1140,689,Dental malocclusion,HPO,phenotype,PHENOTYPE_1140
1141,1141,1141,1141,1141,1141,1141,1141,41192,Fractured epiphysis of fourth metacarpal bone,HPO,phenotype,PHENOTYPE_1141
1142,1142,1142,1142,1142,1142,1142,1142,200123,Chronic hepatitis,HPO,phenotype,PHENOTYPE_1142
1143,1143,1143,1143,1143,1143,1143,1143,10615,Angiofibromas,HPO,phenotype,PHENOTYPE_1143
1144,1144,1144,1144,1144,1144,1144,1144,4758,Effort-induced polymorphic ventricular tachycardia,HPO,phenotype,PHENOTYPE_1144
1145,1145,1145,1145,1145,1145,1145,1145,12093,Abnormality of endocrine pancreas physiology,HPO,phenotype,PHENOTYPE_1145
1146,1146,1146,1146,1146,1146,1146,1146,10060,Bullet-shaped hallux phalanx,HPO,phenotype,PHENOTYPE_1146
1147,1147,1147,1147,1147,1147,1147,1147,32953,Renal tubular cytomegalovirus inclusions,HPO,phenotype,PHENOTYPE_1147
1148,1148,1148,1148,1148,1148,1148,1148,30220,Socially inappropriate behavior,HPO,phenotype,PHENOTYPE_1148
1149,1149,1149,1149,1149,1149,1149,1149,34149,Anti-phenylalanyl tRNA synthetase antibody positivity,HPO,phenotype,PHENOTYPE_1149
1150,1150,1150,1150,1150,1150,1150,1150,1060,Axillary pterygium,HPO,phenotype,PHENOTYPE_1150
1151,1151,1151,1151,1151,1151,1151,1151,12519,Hypoplastic posterior communicating artery,HPO,phenotype,PHENOTYPE_1151
1152,1152,1152,1152,1152,1152,1152,1152,30948,Elevated gamma-glutamyltransferase level,HPO,phenotype,PHENOTYPE_1152
1153,1153,1153,1153,1153,1153,1153,1153,10166,Fragmentation of the epiphyses of the toes,HPO,phenotype,PHENOTYPE_1153
1154,1154,1154,1154,1154,1154,1154,1154,4629,Small cervical vertebral bodies,HPO,phenotype,PHENOTYPE_1154
1155,1155,1155,1155,1155,1155,1155,1155,2512,Brain stem compression,HPO,phenotype,PHENOTYPE_1155
1156,1156,1156,1156,1156,1156,1156,1156,31604,Agenesis of the carotid canal,HPO,phenotype,PHENOTYPE_1156
1157,1157,1157,1157,1157,1157,1157,1157,11568,Double orifice mitral valve,HPO,phenotype,PHENOTYPE_1157
1158,1158,1158,1158,1158,1158,1158,1158,12753,T2 hypointense basal ganglia,HPO,phenotype,PHENOTYPE_1158
1159,1159,1159,1159,1159,1159,1159,1159,6001107,Fractured scaphoid bone,HPO,phenotype,PHENOTYPE_1159
1160,1160,1160,1160,1160,1160,1160,1160,9493,Irregular epiphyses of the 2nd finger,HPO,phenotype,PHENOTYPE_1160
1161,1161,1161,1161,1161,1161,1161,1161,100496,Abnormality of the vitamin B3 metabolism,HPO,phenotype,PHENOTYPE_1161
1162,1162,1162,1162,1162,1162,1162,1162,6000656,Papillary dermis eosinophilic hyaline material,HPO,phenotype,PHENOTYPE_1162
1163,1163,1163,1163,1163,1163,1163,1163,100771,Hypoperistalsis,HPO,phenotype,PHENOTYPE_1163
1164,1164,1164,1164,1164,1164,1164,1164,963,Thin skin,HPO,phenotype,PHENOTYPE_1164
1165,1165,1165,1165,1165,1165,1165,1165,10070,Curved 1st metatarsal,HPO,phenotype,PHENOTYPE_1165
1166,1166,1166,1166,1166,1166,1166,1166,10878,Fetal cystic hygroma,HPO,phenotype,PHENOTYPE_1166
1167,1167,1167,1167,1167,1167,1167,1167,25089,Feculent vomiting,HPO,phenotype,PHENOTYPE_1167
1168,1168,1168,1168,1168,1168,1168,1168,25729,Fetal vascular malperfusion,HPO,phenotype,PHENOTYPE_1168
1169,1169,1169,1169,1169,1169,1169,1169,6892,Frontotemporal cerebral atrophy,HPO,phenotype,PHENOTYPE_1169
1170,1170,1170,1170,1170,1170,1170,1170,7765,Deep anterior chamber,HPO,phenotype,PHENOTYPE_1170
1171,1171,1171,1171,1171,1171,1171,1171,11478,True anophthalmia,HPO,phenotype,PHENOTYPE_1171
1172,1172,1172,1172,1172,1172,1172,1172,12048,Oromandibular dystonia,HPO,phenotype,PHENOTYPE_1172
1173,1173,1173,1173,1173,1173,1173,1173,7020,Progressive spastic paraplegia,HPO,phenotype,PHENOTYPE_1173
1174,1174,1174,1174,1174,1174,1174,1174,12790,Abnormal intramembranous ossification,HPO,phenotype,PHENOTYPE_1174
1175,1175,1175,1175,1175,1175,1175,1175,11058,Generalized periodontitis,HPO,phenotype,PHENOTYPE_1175
1176,1176,1176,1176,1176,1176,1176,1176,6000709,Absent Bell phenomenon,HPO,phenotype,PHENOTYPE_1176
1177,1177,1177,1177,1177,1177,1177,1177,11691,Supraventricular tachycardia with a concealed accessory pathway on the left free wall,HPO,phenotype,PHENOTYPE_1177
1178,1178,1178,1178,1178,1178,1178,1178,34667,Thumb extension contracture,HPO,phenotype,PHENOTYPE_1178
1179,1179,1179,1179,1179,1179,1179,1179,25230,Tendonitis,HPO,phenotype,PHENOTYPE_1179
1180,1180,1180,1180,1180,1180,1180,1180,40146,D-2-hydroxyglutaric acidemia,HPO,phenotype,PHENOTYPE_1180
1181,1181,1181,1181,1181,1181,1181,1181,11835,Absent scaphoid,HPO,phenotype,PHENOTYPE_1181
1182,1182,1182,1182,1182,1182,1182,1182,32028,Macular dots,HPO,phenotype,PHENOTYPE_1182
1183,1183,1183,1183,1183,1183,1183,1183,34809,Abnormal sperm physiology,HPO,phenotype,PHENOTYPE_1183
1184,1184,1184,1184,1184,1184,1184,1184,3097,Short femur,HPO,phenotype,PHENOTYPE_1184
1185,1185,1185,1185,1185,1185,1185,1185,100765,Abnormality of the tonsils,HPO,phenotype,PHENOTYPE_1185
1186,1186,1186,1186,1186,1186,1186,1186,34523,Blood parasite,HPO,phenotype,PHENOTYPE_1186
1187,1187,1187,1187,1187,1187,1187,1187,12863,Abnormal male germ cell morphology,HPO,phenotype,PHENOTYPE_1187
1188,1188,1188,1188,1188,1188,1188,1188,10386,Curved 5th toe phalanx,HPO,phenotype,PHENOTYPE_1188
1189,1189,1189,1189,1189,1189,1189,1189,31382,Decreased lymphocyte proliferation in response to anti-CD3,HPO,phenotype,PHENOTYPE_1189
1190,1190,1190,1190,1190,1190,1190,1190,9907,Attached earlobe,HPO,phenotype,PHENOTYPE_1190
1191,1191,1191,1191,1191,1191,1191,1191,1879,Abnormal eosinophil morphology,HPO,phenotype,PHENOTYPE_1191
1192,1192,1192,1192,1192,1192,1192,1192,6251,Limited wrist extension,HPO,phenotype,PHENOTYPE_1192
1193,1193,1193,1193,1193,1193,1193,1193,10036,Aplasia/Hypoplasia of the 2nd metacarpal,HPO,phenotype,PHENOTYPE_1193
1194,1194,1194,1194,1194,1194,1194,1194,1350,Slurred speech,HPO,phenotype,PHENOTYPE_1194
1195,1195,1195,1195,1195,1195,1195,1195,11949,Acute infectious pneumonia,HPO,phenotype,PHENOTYPE_1195
1196,1196,1196,1196,1196,1196,1196,1196,500076,Alternating hypertropia,HPO,phenotype,PHENOTYPE_1196
1197,1197,1197,1197,1197,1197,1197,1197,500036,Nasolacrimal sac papilloma,HPO,phenotype,PHENOTYPE_1197
1198,1198,1198,1198,1198,1198,1198,1198,9739,Hypoplasia of the antihelix,HPO,phenotype,PHENOTYPE_1198
1199,1199,1199,1199,1199,1199,1199,1199,5773,Short forearm,HPO,phenotype,PHENOTYPE_1199
1200,1200,1200,1200,1200,1200,1200,1200,9462,Radial deviation of the 3rd finger,HPO,phenotype,PHENOTYPE_1200
1201,1201,1201,1201,1201,1201,1201,1201,31501,Pelvic mass,HPO,phenotype,PHENOTYPE_1201
1202,1202,1202,1202,1202,1202,1202,1202,8132,Medial rotation of the medial malleolus,HPO,phenotype,PHENOTYPE_1202
1203,1203,1203,1203,1203,1203,1203,1203,25339,Superficial episcleral hyperemia,HPO,phenotype,PHENOTYPE_1203
1204,1204,1204,1204,1204,1204,1204,1204,11795,Intralobar nephroblastomatosis,HPO,phenotype,PHENOTYPE_1204
1205,1205,1205,1205,1205,1205,1205,1205,34280,Target cells,HPO,phenotype,PHENOTYPE_1205
1206,1206,1206,1206,1206,1206,1206,1206,30514,Difficulty adjusting from dark to light,HPO,phenotype,PHENOTYPE_1206
1207,1207,1207,1207,1207,1207,1207,1207,12226,Ovarian teratoma,HPO,phenotype,PHENOTYPE_1207
1208,1208,1208,1208,1208,1208,1208,1208,877,Insulin-resistant diabetes mellitus at puberty,HPO,phenotype,PHENOTYPE_1208
1209,1209,1209,1209,1209,1209,1209,1209,5100,Premature birth following premature rupture of fetal membranes,HPO,phenotype,PHENOTYPE_1209
1210,1210,1210,1210,1210,1210,1210,1210,11400,Abnormal CNS myelination,HPO,phenotype,PHENOTYPE_1210
1211,1211,1211,1211,1211,1211,1211,1211,40138,Mucinous histiocytosis,HPO,phenotype,PHENOTYPE_1211
1212,1212,1212,1212,1212,1212,1212,1212,12811,Wide nasal ridge,HPO,phenotype,PHENOTYPE_1212
1213,1213,1213,1213,1213,1213,1213,1213,31417,Rhinorrhea,HPO,phenotype,PHENOTYPE_1213
1214,1214,1214,1214,1214,1214,1214,1214,6213,Thin proximal phalanges with broad epiphyses of the hand,HPO,phenotype,PHENOTYPE_1214
1215,1215,1215,1215,1215,1215,1215,1215,430052,Anti-SARS-CoV-2 coronavirus antibody positivity,HPO,phenotype,PHENOTYPE_1215
1216,1216,1216,1216,1216,1216,1216,1216,4000214,Diminished breath sounds,HPO,phenotype,PHENOTYPE_1216
1217,1217,1217,1217,1217,1217,1217,1217,4398,Peptic ulcer,HPO,phenotype,PHENOTYPE_1217
1218,1218,1218,1218,1218,1218,1218,1218,34847,Fetal cytarabine exposure,HPO,phenotype,PHENOTYPE_1218
1219,1219,1219,1219,1219,1219,1219,1219,2667,Nephroblastoma,HPO,phenotype,PHENOTYPE_1219
1220,1220,1220,1220,1220,1220,1220,1220,5200102,Reduced social smiling,HPO,phenotype,PHENOTYPE_1220
1221,1221,1221,1221,1221,1221,1221,1221,10672,Abnormality of the third metatarsal bone,HPO,phenotype,PHENOTYPE_1221
1222,1222,1222,1222,1222,1222,1222,1222,20131,Abnormal tubular basement membrane morphology,HPO,phenotype,PHENOTYPE_1222
1223,1223,1223,1223,1223,1223,1223,1223,6000030,Placidity,HPO,phenotype,PHENOTYPE_1223
1224,1224,1224,1224,1224,1224,1224,1224,430148,Abnormal circulating lipoprotein(a) concentration,HPO,phenotype,PHENOTYPE_1224
1225,1225,1225,1225,1225,1225,1225,1225,30759,Adipocyte hypertrophy,HPO,phenotype,PHENOTYPE_1225
1226,1226,1226,1226,1226,1226,1226,1226,5354,Lack of T cell function,HPO,phenotype,PHENOTYPE_1226
1227,1227,1227,1227,1227,1227,1227,1227,5200016,Abnormal peer relationships,HPO,phenotype,PHENOTYPE_1227
1228,1228,1228,1228,1228,1228,1228,1228,12386,Absent hallux,HPO,phenotype,PHENOTYPE_1228
1229,1229,1229,1229,1229,1229,1229,1229,32256,Histoplasmosis,HPO,phenotype,PHENOTYPE_1229
1230,1230,1230,1230,1230,1230,1230,1230,7280,Acute infantile spinal muscular atrophy,HPO,phenotype,PHENOTYPE_1230
1231,1231,1231,1231,1231,1231,1231,1231,25269,Panic attack,HPO,phenotype,PHENOTYPE_1231
1232,1232,1232,1232,1232,1232,1232,1232,11326,Anterior plagiocephaly,HPO,phenotype,PHENOTYPE_1232
1233,1233,1233,1233,1233,1233,1233,1233,6000945,Asymmetric blood pressure between arms,HPO,phenotype,PHENOTYPE_1233
1234,1234,1234,1234,1234,1234,1234,1234,25346,Increased circulating beta-2-microglobulin level,HPO,phenotype,PHENOTYPE_1234
1235,1235,1235,1235,1235,1235,1235,1235,33698,Monomorphic vesicular eruption,HPO,phenotype,PHENOTYPE_1235
1236,1236,1236,1236,1236,1236,1236,1236,41241,Fractured finger phalanx,HPO,phenotype,PHENOTYPE_1236
1237,1237,1237,1237,1237,1237,1237,1237,34440,Ameliorated by ultraviolet light exposure,HPO,phenotype,PHENOTYPE_1237
1238,1238,1238,1238,1238,1238,1238,1238,33904,Renal arteriole intima/media hyalinosis,HPO,phenotype,PHENOTYPE_1238
1239,1239,1239,1239,1239,1239,1239,1239,9283,Abnormality of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_1239
1240,1240,1240,1240,1240,1240,1240,1240,6631,Hypoplastic distal segments of scapulae,HPO,phenotype,PHENOTYPE_1240
1241,1241,1241,1241,1241,1241,1241,1241,12305,Coarctation of the descending aortic arch,HPO,phenotype,PHENOTYPE_1241
1242,1242,1242,1242,1242,1242,1242,1242,4878,Intercostal muscle weakness,HPO,phenotype,PHENOTYPE_1242
1243,1243,1243,1243,1243,1243,1243,1243,25755,Abnormal nail shape,HPO,phenotype,PHENOTYPE_1243
1244,1244,1244,1244,1244,1244,1244,1244,20178,Abnormal dendritic cell count,HPO,phenotype,PHENOTYPE_1244
1245,1245,1245,1245,1245,1245,1245,1245,6671,Paroxysmal atrial tachycardia,HPO,phenotype,PHENOTYPE_1245
1246,1246,1246,1246,1246,1246,1246,1246,25313,Exophoria,HPO,phenotype,PHENOTYPE_1246
1247,1247,1247,1247,1247,1247,1247,1247,1959,Polydipsia,HPO,phenotype,PHENOTYPE_1247
1248,1248,1248,1248,1248,1248,1248,1248,9247,Abnormality of the epiphysis of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_1248
1249,1249,1249,1249,1249,1249,1249,1249,8237,Hypothalamic hypothyroidism,HPO,phenotype,PHENOTYPE_1249
1250,1250,1250,1250,1250,1250,1250,1250,30947,Conjunctival follicles,HPO,phenotype,PHENOTYPE_1250
1251,1251,1251,1251,1251,1251,1251,1251,34301,Congenital pouch colon,HPO,phenotype,PHENOTYPE_1251
1252,1252,1252,1252,1252,1252,1252,1252,32648,Tubularization of Bowman capsule,HPO,phenotype,PHENOTYPE_1252
1253,1253,1253,1253,1253,1253,1253,1253,9289,Aplasia/Hypoplasia of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_1253
1254,1254,1254,1254,1254,1254,1254,1254,8610,Infantile sensorineural hearing impairment,HPO,phenotype,PHENOTYPE_1254
1255,1255,1255,1255,1255,1255,1255,1255,25669,Abnormal neck physiology,HPO,phenotype,PHENOTYPE_1255
1256,1256,1256,1256,1256,1256,1256,1256,8416,Six lumbar vertebrae,HPO,phenotype,PHENOTYPE_1256
1257,1257,1257,1257,1257,1257,1257,1257,8993,Increased intraabdominal fat,HPO,phenotype,PHENOTYPE_1257
1258,1258,1258,1258,1258,1258,1258,1258,6379,Proximal tibial hypoplasia,HPO,phenotype,PHENOTYPE_1258
1259,1259,1259,1259,1259,1259,1259,1259,10081,Patchy sclerosis of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_1259
1260,1260,1260,1260,1260,1260,1260,1260,4376,Neuroblastic tumor,HPO,phenotype,PHENOTYPE_1260
1261,1261,1261,1261,1261,1261,1261,1261,10365,Symphalangism affecting the phalanges of the 3rd toe,HPO,phenotype,PHENOTYPE_1261
1262,1262,1262,1262,1262,1262,1262,1262,6000460,Ectopic testis,HPO,phenotype,PHENOTYPE_1262
1263,1263,1263,1263,1263,1263,1263,1263,6000301,Localized over bony prominences,HPO,phenotype,PHENOTYPE_1263
1264,1264,1264,1264,1264,1264,1264,1264,9725,Bladder neoplasm,HPO,phenotype,PHENOTYPE_1264
1265,1265,1265,1265,1265,1265,1265,1265,3000035,Abnormality of cervical plexus,HPO,phenotype,PHENOTYPE_1265
1266,1266,1266,1266,1266,1266,1266,1266,5281,Hypoplastic nasal bridge,HPO,phenotype,PHENOTYPE_1266
1267,1267,1267,1267,1267,1267,1267,1267,30552,Visual acuity light perception without projection,HPO,phenotype,PHENOTYPE_1267
1268,1268,1268,1268,1268,1268,1268,1268,20284,Abnormal lymph-node lymphocyte cytoplasm morphology,HPO,phenotype,PHENOTYPE_1268
1269,1269,1269,1269,1269,1269,1269,1269,12236,Elevated sweat chloride,HPO,phenotype,PHENOTYPE_1269
1270,1270,1270,1270,1270,1270,1270,1270,25373,Interictal EEG abnormality,HPO,phenotype,PHENOTYPE_1270
1271,1271,1271,1271,1271,1271,1271,1271,8327,Microscopic nephrocalcinosis,HPO,phenotype,PHENOTYPE_1271
1272,1272,1272,1272,1272,1272,1272,1272,6000701,Elevated urinary bile acid level,HPO,phenotype,PHENOTYPE_1272
1273,1273,1273,1273,1273,1273,1273,1273,33070,Impaired self monitoring,HPO,phenotype,PHENOTYPE_1273
1274,1274,1274,1274,1274,1274,1274,1274,11261,Darwin tubercle of helix,HPO,phenotype,PHENOTYPE_1274
1275,1275,1275,1275,1275,1275,1275,1275,1087,Developmental glaucoma,HPO,phenotype,PHENOTYPE_1275
1276,1276,1276,1276,1276,1276,1276,1276,32684,Focal aware cognitive seizure with auditory agnosia,HPO,phenotype,PHENOTYPE_1276
1277,1277,1277,1277,1277,1277,1277,1277,5989,Redundant neck skin,HPO,phenotype,PHENOTYPE_1277
1278,1278,1278,1278,1278,1278,1278,1278,34807,Paroxysmal nocturnal dyspnea,HPO,phenotype,PHENOTYPE_1278
1279,1279,1279,1279,1279,1279,1279,1279,6000677,Elevated natural killer cell count,HPO,phenotype,PHENOTYPE_1279
1280,1280,1280,1280,1280,1280,1280,1280,31944,Pleural thickening,HPO,phenotype,PHENOTYPE_1280
1281,1281,1281,1281,1281,1281,1281,1281,11149,Absence seizure with eyelid myoclonia,HPO,phenotype,PHENOTYPE_1281
1282,1282,1282,1282,1282,1282,1282,1282,2330,Paroxysmal drowsiness,HPO,phenotype,PHENOTYPE_1282
1283,1283,1283,1283,1283,1283,1283,1283,32895,Febrile seizure outside the age of 3 months to 6 years,HPO,phenotype,PHENOTYPE_1283
1284,1284,1284,1284,1284,1284,1284,1284,500165,Abnormal blood oxygen level,HPO,phenotype,PHENOTYPE_1284
1285,1285,1285,1285,1285,1285,1285,1285,4000093,Ectopic tooth eruption,HPO,phenotype,PHENOTYPE_1285
1286,1286,1286,1286,1286,1286,1286,1286,4472,Mandibular hyperostosis,HPO,phenotype,PHENOTYPE_1286
1287,1287,1287,1287,1287,1287,1287,1287,33825,Superior mediastinal mass,HPO,phenotype,PHENOTYPE_1287
1288,1288,1288,1288,1288,1288,1288,1288,3180,Flat acetabular roof,HPO,phenotype,PHENOTYPE_1288
1289,1289,1289,1289,1289,1289,1289,1289,31162,Impaired oropharyngeal swallow response,HPO,phenotype,PHENOTYPE_1289
1290,1290,1290,1290,1290,1290,1290,1290,100813,Testicular torsion,HPO,phenotype,PHENOTYPE_1290
1291,1291,1291,1291,1291,1291,1291,1291,5172,Left posterior fascicular block,HPO,phenotype,PHENOTYPE_1291
1292,1292,1292,1292,1292,1292,1292,1292,5264,Abnormality of the gallbladder,HPO,phenotype,PHENOTYPE_1292
1293,1293,1293,1293,1293,1293,1293,1293,100865,Broad ischia,HPO,phenotype,PHENOTYPE_1293
1294,1294,1294,1294,1294,1294,1294,1294,3336,Abnormal enchondral ossification,HPO,phenotype,PHENOTYPE_1294
1295,1295,1295,1295,1295,1295,1295,1295,1659,Aortic regurgitation,HPO,phenotype,PHENOTYPE_1295
1296,1296,1296,1296,1296,1296,1296,1296,31215,Decreased circulating dehydroepiandrosterone-sulfate concentration,HPO,phenotype,PHENOTYPE_1296
1297,1297,1297,1297,1297,1297,1297,1297,7750,Hypoplasia of the fovea,HPO,phenotype,PHENOTYPE_1297
1298,1298,1298,1298,1298,1298,1298,1298,33565,Anti-epidermal transglutaminase antibody positivity,HPO,phenotype,PHENOTYPE_1298
1299,1299,1299,1299,1299,1299,1299,1299,30857,Eye movement-induced pain,HPO,phenotype,PHENOTYPE_1299
1300,1300,1300,1300,1300,1300,1300,1300,11967,Decreased circulating copper concentration,HPO,phenotype,PHENOTYPE_1300
1301,1301,1301,1301,1301,1301,1301,1301,12525,Abnormal alpha granule distribution,HPO,phenotype,PHENOTYPE_1301
1302,1302,1302,1302,1302,1302,1302,1302,12895,Scapular muscle hypertrophy,HPO,phenotype,PHENOTYPE_1302
1303,1303,1303,1303,1303,1303,1303,1303,33244,Glycogen accumulation in pulmonary interstitial cells,HPO,phenotype,PHENOTYPE_1303
1304,1304,1304,1304,1304,1304,1304,1304,100222,Stippling of the epiphysis of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_1304
1305,1305,1305,1305,1305,1305,1305,1305,8777,Abnormal vocal cord morphology,HPO,phenotype,PHENOTYPE_1305
1306,1306,1306,1306,1306,1306,1306,1306,6232,Expanded metacarpals with widened medullary cavities,HPO,phenotype,PHENOTYPE_1306
1307,1307,1307,1307,1307,1307,1307,1307,45017,Congenital malformation of the left heart,HPO,phenotype,PHENOTYPE_1307
1308,1308,1308,1308,1308,1308,1308,1308,12164,Asterixis,HPO,phenotype,PHENOTYPE_1308
1309,1309,1309,1309,1309,1309,1309,1309,12783,Intralobar nephrogenic rest,HPO,phenotype,PHENOTYPE_1309
1310,1310,1310,1310,1310,1310,1310,1310,6000737,Positive bloodstream influenza nucleic test,HPO,phenotype,PHENOTYPE_1310
1311,1311,1311,1311,1311,1311,1311,1311,30448,Soft tissue sarcoma,HPO,phenotype,PHENOTYPE_1311
1312,1312,1312,1312,1312,1312,1312,1312,20079,Beta-alaninuria,HPO,phenotype,PHENOTYPE_1312
1313,1313,1313,1313,1313,1313,1313,1313,32585,Renal interstitial eosinophil infiltration,HPO,phenotype,PHENOTYPE_1313
1314,1314,1314,1314,1314,1314,1314,1314,410233,Increased anti-meat allergen IgE antibody level,HPO,phenotype,PHENOTYPE_1314
1315,1315,1315,1315,1315,1315,1315,1315,33324,Elevated circulating homovanillic acid concentration,HPO,phenotype,PHENOTYPE_1315
1316,1316,1316,1316,1316,1316,1316,1316,657,Oculomotor apraxia,HPO,phenotype,PHENOTYPE_1316
1317,1317,1317,1317,1317,1317,1317,1317,33311,Abdominal aortic dissection,HPO,phenotype,PHENOTYPE_1317
1318,1318,1318,1318,1318,1318,1318,1318,410215,Hypocapnia in cord blood,HPO,phenotype,PHENOTYPE_1318
1319,1319,1319,1319,1319,1319,1319,1319,10308,Asternia,HPO,phenotype,PHENOTYPE_1319
1320,1320,1320,1320,1320,1320,1320,1320,6000291,Third cranial nerve thickening,HPO,phenotype,PHENOTYPE_1320
1321,1321,1321,1321,1321,1321,1321,1321,6000956,Exuberant granulation tissue,HPO,phenotype,PHENOTYPE_1321
1322,1322,1322,1322,1322,1322,1322,1322,5246,Giant hypertrophic gastritis,HPO,phenotype,PHENOTYPE_1322
1323,1323,1323,1323,1323,1323,1323,1323,6323,Premature loss of primary teeth,HPO,phenotype,PHENOTYPE_1323
1324,1324,1324,1324,1324,1324,1324,1324,31679,Type I atherosclerotic lesion,HPO,phenotype,PHENOTYPE_1324
1325,1325,1325,1325,1325,1325,1325,1325,4360,Abnormality of acid-base homeostasis,HPO,phenotype,PHENOTYPE_1325
1326,1326,1326,1326,1326,1326,1326,1326,34853,Fetal phenytoin exposure,HPO,phenotype,PHENOTYPE_1326
1327,1327,1327,1327,1327,1327,1327,1327,6273,Pancreatic lymphangiectasis,HPO,phenotype,PHENOTYPE_1327
1328,1328,1328,1328,1328,1328,1328,1328,8629,Pulsatile tinnitus,HPO,phenotype,PHENOTYPE_1328
1329,1329,1329,1329,1329,1329,1329,1329,6001147,Increased peripheral nerve cross sectional area,HPO,phenotype,PHENOTYPE_1329
1330,1330,1330,1330,1330,1330,1330,1330,30541,Unaided visual acuity 0.6 LogMAR,HPO,phenotype,PHENOTYPE_1330
1331,1331,1331,1331,1331,1331,1331,1331,5200273,Abnormal sadness,HPO,phenotype,PHENOTYPE_1331
1332,1332,1332,1332,1332,1332,1332,1332,6001092,Strong ultraviolet light exposure,HPO,phenotype,PHENOTYPE_1332
1333,1333,1333,1333,1333,1333,1333,1333,200042,Skin ulcer,HPO,phenotype,PHENOTYPE_1333
1334,1334,1334,1334,1334,1334,1334,1334,100250,Meningeal calcification,HPO,phenotype,PHENOTYPE_1334
1335,1335,1335,1335,1335,1335,1335,1335,430117,Positive skin infectious agent test,HPO,phenotype,PHENOTYPE_1335
1336,1336,1336,1336,1336,1336,1336,1336,11324,Multiple suture craniosynostosis,HPO,phenotype,PHENOTYPE_1336
1337,1337,1337,1337,1337,1337,1337,1337,7675,Progressive night blindness,HPO,phenotype,PHENOTYPE_1337
1338,1338,1338,1338,1338,1338,1338,1338,32641,Renal interstitial granulomas,HPO,phenotype,PHENOTYPE_1338
1339,1339,1339,1339,1339,1339,1339,1339,12471,Thick vermilion border,HPO,phenotype,PHENOTYPE_1339
1340,1340,1340,1340,1340,1340,1340,1340,11364,White hair,HPO,phenotype,PHENOTYPE_1340
1341,1341,1341,1341,1341,1341,1341,1341,32957,Dysmorphic hematuria,HPO,phenotype,PHENOTYPE_1341
1342,1342,1342,1342,1342,1342,1342,1342,5200060,Auditory hypersensitivity,HPO,phenotype,PHENOTYPE_1342
1343,1343,1343,1343,1343,1343,1343,1343,40334,Purulent rhinitis,HPO,phenotype,PHENOTYPE_1343
1344,1344,1344,1344,1344,1344,1344,1344,11328,Abnormal fontanelle morphology,HPO,phenotype,PHENOTYPE_1344
1345,1345,1345,1345,1345,1345,1345,1345,30162,Glomerulomegaly,HPO,phenotype,PHENOTYPE_1345
1346,1346,1346,1346,1346,1346,1346,1346,40131,Abnormal motor nerve conduction velocity,HPO,phenotype,PHENOTYPE_1346
1347,1347,1347,1347,1347,1347,1347,1347,31016,Alternating radiolucent and radiodense metaphyseal lines,HPO,phenotype,PHENOTYPE_1347
1348,1348,1348,1348,1348,1348,1348,1348,7378,Neoplasm of the gastrointestinal tract,HPO,phenotype,PHENOTYPE_1348
1349,1349,1349,1349,1349,1349,1349,1349,11496,Corneal neovascularization,HPO,phenotype,PHENOTYPE_1349
1350,1350,1350,1350,1350,1350,1350,1350,2188,Delayed CNS myelination,HPO,phenotype,PHENOTYPE_1350
1351,1351,1351,1351,1351,1351,1351,1351,2470,Nonprogressive cerebellar ataxia,HPO,phenotype,PHENOTYPE_1351
1352,1352,1352,1352,1352,1352,1352,1352,12168,Head-banging,HPO,phenotype,PHENOTYPE_1352
1353,1353,1353,1353,1353,1353,1353,1353,100775,Dural ectasia,HPO,phenotype,PHENOTYPE_1353
1354,1354,1354,1354,1354,1354,1354,1354,2202,Pleural effusion,HPO,phenotype,PHENOTYPE_1354
1355,1355,1355,1355,1355,1355,1355,1355,30655,Umbilical cord knot,HPO,phenotype,PHENOTYPE_1355
1356,1356,1356,1356,1356,1356,1356,1356,9553,Abnormality of the hairline,HPO,phenotype,PHENOTYPE_1356
1357,1357,1357,1357,1357,1357,1357,1357,34424,Clicking tinnitus,HPO,phenotype,PHENOTYPE_1357
1358,1358,1358,1358,1358,1358,1358,1358,12474,Carotid artery occlusion,HPO,phenotype,PHENOTYPE_1358
1359,1359,1359,1359,1359,1359,1359,1359,9748,Large earlobe,HPO,phenotype,PHENOTYPE_1359
1360,1360,1360,1360,1360,1360,1360,1360,1773,Short foot,HPO,phenotype,PHENOTYPE_1360
1361,1361,1361,1361,1361,1361,1361,1361,11063,Abnormal incisor morphology,HPO,phenotype,PHENOTYPE_1361
1362,1362,1362,1362,1362,1362,1362,1362,3139,Panhypogammaglobulinemia,HPO,phenotype,PHENOTYPE_1362
1363,1363,1363,1363,1363,1363,1363,1363,30479,Abnormal amplitude of light-adapted flicker electroretinogram,HPO,phenotype,PHENOTYPE_1363
1364,1364,1364,1364,1364,1364,1364,1364,10651,Abnormal meningeal morphology,HPO,phenotype,PHENOTYPE_1364
1365,1365,1365,1365,1365,1365,1365,1365,7856,Punctate opacification of the cornea,HPO,phenotype,PHENOTYPE_1365
1366,1366,1366,1366,1366,1366,1366,1366,6000840,Localized soft-tissue swelling on extremity,HPO,phenotype,PHENOTYPE_1366
1367,1367,1367,1367,1367,1367,1367,1367,34670,Abnormal knee physiology,HPO,phenotype,PHENOTYPE_1367
1368,1368,1368,1368,1368,1368,1368,1368,12485,Abnormal surface-connected open canalicular system,HPO,phenotype,PHENOTYPE_1368
1369,1369,1369,1369,1369,1369,1369,1369,5557,Abnormal zygomatic arch morphology,HPO,phenotype,PHENOTYPE_1369
1370,1370,1370,1370,1370,1370,1370,1370,5026,Mesomelic/rhizomelic limb shortening,HPO,phenotype,PHENOTYPE_1370
1371,1371,1371,1371,1371,1371,1371,1371,33974,Interlobular vein intima/media multilamellation,HPO,phenotype,PHENOTYPE_1371
1372,1372,1372,1372,1372,1372,1372,1372,100195,Fragmentation of the epiphysis of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_1372
1373,1373,1373,1373,1373,1373,1373,1373,6297,Enamel hypoplasia,HPO,phenotype,PHENOTYPE_1373
1374,1374,1374,1374,1374,1374,1374,1374,25164,Increased number of elastic fibers in the dermis,HPO,phenotype,PHENOTYPE_1374
1375,1375,1375,1375,1375,1375,1375,1375,140,Abnormality of the menstrual cycle,HPO,phenotype,PHENOTYPE_1375
1376,1376,1376,1376,1376,1376,1376,1376,10949,Abnormality of umbilical vein blood flow,HPO,phenotype,PHENOTYPE_1376
1377,1377,1377,1377,1377,1377,1377,1377,31823,Reduced hypoxanthine-guanine phosphoribosyltransferase level,HPO,phenotype,PHENOTYPE_1377
1378,1378,1378,1378,1378,1378,1378,1378,10598,Abnormality of the proximal humeral epiphysis,HPO,phenotype,PHENOTYPE_1378
1379,1379,1379,1379,1379,1379,1379,1379,1476,Delayed closure of the anterior fontanelle,HPO,phenotype,PHENOTYPE_1379
1380,1380,1380,1380,1380,1380,1380,1380,100336,Bilateral cleft lip,HPO,phenotype,PHENOTYPE_1380
1381,1381,1381,1381,1381,1381,1381,1381,2225,Sparse pubic hair,HPO,phenotype,PHENOTYPE_1381
1382,1382,1382,1382,1382,1382,1382,1382,30506,Yellow/white lesions of the retina,HPO,phenotype,PHENOTYPE_1382
1383,1383,1383,1383,1383,1383,1383,1383,25334,Triggered by emotion,HPO,phenotype,PHENOTYPE_1383
1384,1384,1384,1384,1384,1384,1384,1384,100106,Ivory epiphysis of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_1384
1385,1385,1385,1385,1385,1385,1385,1385,6001189,Onychoheterotopia,HPO,phenotype,PHENOTYPE_1385
1386,1386,1386,1386,1386,1386,1386,1386,2680,J-shaped sella turcica,HPO,phenotype,PHENOTYPE_1386
1387,1387,1387,1387,1387,1387,1387,1387,5829,Maldevelopment of radioulnar joint,HPO,phenotype,PHENOTYPE_1387
1388,1388,1388,1388,1388,1388,1388,1388,8369,Abnormal tarsal ossification,HPO,phenotype,PHENOTYPE_1388
1389,1389,1389,1389,1389,1389,1389,1389,10916,Abnormal circulating alanine concentration,HPO,phenotype,PHENOTYPE_1389
1390,1390,1390,1390,1390,1390,1390,1390,25094,Disciform macular scar,HPO,phenotype,PHENOTYPE_1390
1391,1391,1391,1391,1391,1391,1391,1391,30806,Fast-growing nails,HPO,phenotype,PHENOTYPE_1391
1392,1392,1392,1392,1392,1392,1392,1392,9370,Type A brachydactyly,HPO,phenotype,PHENOTYPE_1392
1393,1393,1393,1393,1393,1393,1393,1393,10632,Total anosmia,HPO,phenotype,PHENOTYPE_1393
1394,1394,1394,1394,1394,1394,1394,1394,11615,Abnormal pulmonary situs morphology,HPO,phenotype,PHENOTYPE_1394
1395,1395,1395,1395,1395,1395,1395,1395,31104,Insulin receptor antibody positivity,HPO,phenotype,PHENOTYPE_1395
1396,1396,1396,1396,1396,1396,1396,1396,6000241,Diminished prolactin response to thyrotrophin-releasing hormone stimulation,HPO,phenotype,PHENOTYPE_1396
1397,1397,1397,1397,1397,1397,1397,1397,1298,Encephalopathy,HPO,phenotype,PHENOTYPE_1397
1398,1398,1398,1398,1398,1398,1398,1398,4660,Hypoplasia of facial musculature,HPO,phenotype,PHENOTYPE_1398
1399,1399,1399,1399,1399,1399,1399,1399,1074,Atypical nevi in non-sun exposed areas,HPO,phenotype,PHENOTYPE_1399
1400,1400,1400,1400,1400,1400,1400,1400,31481,Abnormal mitral valve physiology,HPO,phenotype,PHENOTYPE_1400
1401,1401,1401,1401,1401,1401,1401,1401,33766,Polymelia,HPO,phenotype,PHENOTYPE_1401
1402,1402,1402,1402,1402,1402,1402,1402,7030,Nonprogressive encephalopathy,HPO,phenotype,PHENOTYPE_1402
1403,1403,1403,1403,1403,1403,1403,1403,6001050,Whorled,HPO,phenotype,PHENOTYPE_1403
1404,1404,1404,1404,1404,1404,1404,1404,33729,Minimal mesangial lupus nephritis,HPO,phenotype,PHENOTYPE_1404
1405,1405,1405,1405,1405,1405,1405,1405,11290,EEG with frontal sharp slow waves,HPO,phenotype,PHENOTYPE_1405
1406,1406,1406,1406,1406,1406,1406,1406,108,Renal corticomedullary cysts,HPO,phenotype,PHENOTYPE_1406
1407,1407,1407,1407,1407,1407,1407,1407,2323,Anencephaly,HPO,phenotype,PHENOTYPE_1407
1408,1408,1408,1408,1408,1408,1408,1408,8245,Pituitary hypothyroidism,HPO,phenotype,PHENOTYPE_1408
1409,1409,1409,1409,1409,1409,1409,1409,6000837,Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test,HPO,phenotype,PHENOTYPE_1409
1410,1410,1410,1410,1410,1410,1410,1410,3234,Decreased circulating carnitine concentration,HPO,phenotype,PHENOTYPE_1410
1411,1411,1411,1411,1411,1411,1411,1411,10076,Aplasia/Hypoplasia of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_1411
1412,1412,1412,1412,1412,1412,1412,1412,10047,Short 5th metacarpal,HPO,phenotype,PHENOTYPE_1412
1413,1413,1413,1413,1413,1413,1413,1413,5200310,Diminishment of social interactions,HPO,phenotype,PHENOTYPE_1413
1414,1414,1414,1414,1414,1414,1414,1414,34183,Spastic triplegia,HPO,phenotype,PHENOTYPE_1414
1415,1415,1415,1415,1415,1415,1415,1415,4453,Overfolding of the superior helices,HPO,phenotype,PHENOTYPE_1415
1416,1416,1416,1416,1416,1416,1416,1416,3534,Reduced xanthine dehydrogenase level,HPO,phenotype,PHENOTYPE_1416
1417,1417,1417,1417,1417,1417,1417,1417,20289,Abnormal level of lymph-node cellular CD20 expression,HPO,phenotype,PHENOTYPE_1417
1418,1418,1418,1418,1418,1418,1418,1418,8504,Moderate sensorineural hearing impairment,HPO,phenotype,PHENOTYPE_1418
1419,1419,1419,1419,1419,1419,1419,1419,8577,Underfolded helix,HPO,phenotype,PHENOTYPE_1419
1420,1420,1420,1420,1420,1420,1420,1420,5689,Dermatoglyphic ridges abnormal,HPO,phenotype,PHENOTYPE_1420
1421,1421,1421,1421,1421,1421,1421,1421,12556,Hyperbeta-alaninemia,HPO,phenotype,PHENOTYPE_1421
1422,1422,1422,1422,1422,1422,1422,1422,35020,Elevated circulating C18 acylcarnitine concentration,HPO,phenotype,PHENOTYPE_1422
1423,1423,1423,1423,1423,1423,1423,1423,33444,Elevated circulating dodecanoylcarnitine concentration,HPO,phenotype,PHENOTYPE_1423
1424,1424,1424,1424,1424,1424,1424,1424,9399,Ivory epiphyses of the 4th finger,HPO,phenotype,PHENOTYPE_1424
1425,1425,1425,1425,1425,1425,1425,1425,32867,Refractory status epilepticus,HPO,phenotype,PHENOTYPE_1425
1426,1426,1426,1426,1426,1426,1426,1426,40157,Abnormal intermamillary distance,HPO,phenotype,PHENOTYPE_1426
1427,1427,1427,1427,1427,1427,1427,1427,5200406,Tactile agnosia,HPO,phenotype,PHENOTYPE_1427
1428,1428,1428,1428,1428,1428,1428,1428,34434,Abnormal communication,HPO,phenotype,PHENOTYPE_1428
1429,1429,1429,1429,1429,1429,1429,1429,8039,Subepithelial corneal opacities,HPO,phenotype,PHENOTYPE_1429
1430,1430,1430,1430,1430,1430,1430,1430,12044,Seesaw nystagmus,HPO,phenotype,PHENOTYPE_1430
1431,1431,1431,1431,1431,1431,1431,1431,34616,Abnormal circulating coenzyme concentration,HPO,phenotype,PHENOTYPE_1431
1432,1432,1432,1432,1432,1432,1432,1432,31280,Increased LH response to gonadotropin-releasing hormone stimulation test,HPO,phenotype,PHENOTYPE_1432
1433,1433,1433,1433,1433,1433,1433,1433,8285,Transient hypophosphatemia,HPO,phenotype,PHENOTYPE_1433
1434,1434,1434,1434,1434,1434,1434,1434,100245,Gastrointestinal desmoid tumor,HPO,phenotype,PHENOTYPE_1434
1435,1435,1435,1435,1435,1435,1435,1435,6000090,Dermal flame figures,HPO,phenotype,PHENOTYPE_1435
1436,1436,1436,1436,1436,1436,1436,1436,25648,Steroid-sensitive nephrotic syndrome with infrequent relapses,HPO,phenotype,PHENOTYPE_1436
1437,1437,1437,1437,1437,1437,1437,1437,34621,Hepatic xanthomatosis,HPO,phenotype,PHENOTYPE_1437
1438,1438,1438,1438,1438,1438,1438,1438,25726,Type 2 congenital pulmonary airway malformation,HPO,phenotype,PHENOTYPE_1438
1439,1439,1439,1439,1439,1439,1439,1439,11236,Angulated antihelix,HPO,phenotype,PHENOTYPE_1439
1440,1440,1440,1440,1440,1440,1440,1440,1790,Nonimmune hydrops fetalis,HPO,phenotype,PHENOTYPE_1440
1441,1441,1441,1441,1441,1441,1441,1441,11334,Facial shape deformation,HPO,phenotype,PHENOTYPE_1441
1442,1442,1442,1442,1442,1442,1442,1442,25654,Placenta accreta,HPO,phenotype,PHENOTYPE_1442
1443,1443,1443,1443,1443,1443,1443,1443,6000440,Reduced circulating squalene concentration,HPO,phenotype,PHENOTYPE_1443
1444,1444,1444,1444,1444,1444,1444,1444,7962,Speckled corneal dystrophy,HPO,phenotype,PHENOTYPE_1444
1445,1445,1445,1445,1445,1445,1445,1445,580,Pigmentary retinopathy,HPO,phenotype,PHENOTYPE_1445
1446,1446,1446,1446,1446,1446,1446,1446,100405,Duplication of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_1446
1447,1447,1447,1447,1447,1447,1447,1447,1840,Metatarsus adductus,HPO,phenotype,PHENOTYPE_1447
1448,1448,1448,1448,1448,1448,1448,1448,10434,Aplasia of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_1448
1449,1449,1449,1449,1449,1449,1449,1449,12264,Absent central microtubular pair morphology of respiratory motile cilia,HPO,phenotype,PHENOTYPE_1449
1450,1450,1450,1450,1450,1450,1450,1450,30455,Abnormality of pattern visual evoked potentials,HPO,phenotype,PHENOTYPE_1450
1451,1451,1451,1451,1451,1451,1451,1451,9200,Pseudoepiphysis of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_1451
1452,1452,1452,1452,1452,1452,1452,1452,2438,Cerebellar malformation,HPO,phenotype,PHENOTYPE_1452
1453,1453,1453,1453,1453,1453,1453,1453,25447,Displacement of the papillary muscles,HPO,phenotype,PHENOTYPE_1453
1454,1454,1454,1454,1454,1454,1454,1454,200101,Decreased/absent ankle reflexes,HPO,phenotype,PHENOTYPE_1454
1455,1455,1455,1455,1455,1455,1455,1455,8364,Abnormality of the calcaneus,HPO,phenotype,PHENOTYPE_1455
1456,1456,1456,1456,1456,1456,1456,1456,10612,Plantar pits,HPO,phenotype,PHENOTYPE_1456
1457,1457,1457,1457,1457,1457,1457,1457,11460,Embryonal onset,HPO,phenotype,PHENOTYPE_1457
1458,1458,1458,1458,1458,1458,1458,1458,32368,Acidemia,HPO,phenotype,PHENOTYPE_1458
1459,1459,1459,1459,1459,1459,1459,1459,34250,Fetal nuchal edema,HPO,phenotype,PHENOTYPE_1459
1460,1460,1460,1460,1460,1460,1460,1460,33613,Perifissural pulmonary nodule,HPO,phenotype,PHENOTYPE_1460
1461,1461,1461,1461,1461,1461,1461,1461,1814,Deep-set nails,HPO,phenotype,PHENOTYPE_1461
1462,1462,1462,1462,1462,1462,1462,1462,5305,Cerebral venous thrombosis,HPO,phenotype,PHENOTYPE_1462
1463,1463,1463,1463,1463,1463,1463,1463,30632,Hypoautofluorescent macular lesion,HPO,phenotype,PHENOTYPE_1463
1464,1464,1464,1464,1464,1464,1464,1464,12823,Clinical modifier,HPO,phenotype,PHENOTYPE_1464
1465,1465,1465,1465,1465,1465,1465,1465,32064,Gastrointestinal eosinophilia,HPO,phenotype,PHENOTYPE_1465
1466,1466,1466,1466,1466,1466,1466,1466,32250,Acinetobacter infection,HPO,phenotype,PHENOTYPE_1466
1467,1467,1467,1467,1467,1467,1467,1467,4742,Abnormal renal collecting system morphology,HPO,phenotype,PHENOTYPE_1467
1468,1468,1468,1468,1468,1468,1468,1468,6000525,Reduced erythrocyte glutathione reductase activity,HPO,phenotype,PHENOTYPE_1468
1469,1469,1469,1469,1469,1469,1469,1469,12357,Increased mannosylation of N-linked protein glycosylation,HPO,phenotype,PHENOTYPE_1469
1470,1470,1470,1470,1470,1470,1470,1470,34819,Iris nodule,HPO,phenotype,PHENOTYPE_1470
1471,1471,1471,1471,1471,1471,1471,1471,4000029,Antigliadin antibody positivity,HPO,phenotype,PHENOTYPE_1471
1472,1472,1472,1472,1472,1472,1472,1472,11489,Abnormal migration of corneal endothelium,HPO,phenotype,PHENOTYPE_1472
1473,1473,1473,1473,1473,1473,1473,1473,500052,Retinopathy of prematurity stage 3,HPO,phenotype,PHENOTYPE_1473
1474,1474,1474,1474,1474,1474,1474,1474,11283,Abnormal metencephalon morphology,HPO,phenotype,PHENOTYPE_1474
1475,1475,1475,1475,1475,1475,1475,1475,33686,Mitochondrial hypertrophy,HPO,phenotype,PHENOTYPE_1475
1476,1476,1476,1476,1476,1476,1476,1476,12484,Abnormal dense granules,HPO,phenotype,PHENOTYPE_1476
1477,1477,1477,1477,1477,1477,1477,1477,10356,Abnormality of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_1477
1478,1478,1478,1478,1478,1478,1478,1478,12740,Papilloma,HPO,phenotype,PHENOTYPE_1478
1479,1479,1479,1479,1479,1479,1479,1479,20290,CD79a expression,HPO,phenotype,PHENOTYPE_1479
1480,1480,1480,1480,1480,1480,1480,1480,4000058,Glomerular proteinuria,HPO,phenotype,PHENOTYPE_1480
1481,1481,1481,1481,1481,1481,1481,1481,33280,Paratracheal lymphadenopathy,HPO,phenotype,PHENOTYPE_1481
1482,1482,1482,1482,1482,1482,1482,1482,8897,Postnatal growth retardation,HPO,phenotype,PHENOTYPE_1482
1483,1483,1483,1483,1483,1483,1483,1483,6000962,Positive respiratory tract Bordetella pertussis nucleic acid test,HPO,phenotype,PHENOTYPE_1483
1484,1484,1484,1484,1484,1484,1484,1484,6000175,Occipital location,HPO,phenotype,PHENOTYPE_1484
1485,1485,1485,1485,1485,1485,1485,1485,32029,Floppy eyelid,HPO,phenotype,PHENOTYPE_1485
1486,1486,1486,1486,1486,1486,1486,1486,32682,Focal aware non-motor seizure,HPO,phenotype,PHENOTYPE_1486
1487,1487,1487,1487,1487,1487,1487,1487,7598,Bilateral single transverse palmar creases,HPO,phenotype,PHENOTYPE_1487
1488,1488,1488,1488,1488,1488,1488,1488,274,Small face,HPO,phenotype,PHENOTYPE_1488
1489,1489,1489,1489,1489,1489,1489,1489,30839,Knee pain,HPO,phenotype,PHENOTYPE_1489
1490,1490,1490,1490,1490,1490,1490,1490,34331,McConnell sign,HPO,phenotype,PHENOTYPE_1490
1491,1491,1491,1491,1491,1491,1491,1491,34368,Urolithiasis,HPO,phenotype,PHENOTYPE_1491
1492,1492,1492,1492,1492,1492,1492,1492,12629,Phakodonesis,HPO,phenotype,PHENOTYPE_1492
1493,1493,1493,1493,1493,1493,1493,1493,31482,Abnormal regional left ventricular contraction,HPO,phenotype,PHENOTYPE_1493
1494,1494,1494,1494,1494,1494,1494,1494,6000925,Positive tuberculin skin test,HPO,phenotype,PHENOTYPE_1494
1495,1495,1495,1495,1495,1495,1495,1495,500134,Hypertryptophanemia,HPO,phenotype,PHENOTYPE_1495
1496,1496,1496,1496,1496,1496,1496,1496,6000144,Left ventricular aneurysm,HPO,phenotype,PHENOTYPE_1496
1497,1497,1497,1497,1497,1497,1497,1497,12286,Abnormal hypothalamus morphology,HPO,phenotype,PHENOTYPE_1497
1498,1498,1498,1498,1498,1498,1498,1498,11861,Bilateral trilobed lung,HPO,phenotype,PHENOTYPE_1498
1499,1499,1499,1499,1499,1499,1499,1499,3997,Hypoplastic radial head,HPO,phenotype,PHENOTYPE_1499
1500,1500,1500,1500,1500,1500,1500,1500,9644,Curved distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_1500
1501,1501,1501,1501,1501,1501,1501,1501,6001047,Circumscribed,HPO,phenotype,PHENOTYPE_1501
1502,1502,1502,1502,1502,1502,1502,1502,5502,Increased red cell osmotic fragility,HPO,phenotype,PHENOTYPE_1502
1503,1503,1503,1503,1503,1503,1503,1503,30904,Glabellar reflex,HPO,phenotype,PHENOTYPE_1503
1504,1504,1504,1504,1504,1504,1504,1504,11786,Thyrotoxicosis with toxic single thyroid nodule,HPO,phenotype,PHENOTYPE_1504
1505,1505,1505,1505,1505,1505,1505,1505,1857,Short distal phalanx of toe,HPO,phenotype,PHENOTYPE_1505
1506,1506,1506,1506,1506,1506,1506,1506,5000005,Anti-CASPR2,HPO,phenotype,PHENOTYPE_1506
1507,1507,1507,1507,1507,1507,1507,1507,32504,Lhermitte's sign,HPO,phenotype,PHENOTYPE_1507
1508,1508,1508,1508,1508,1508,1508,1508,5200238,Vowel expressive impediment,HPO,phenotype,PHENOTYPE_1508
1509,1509,1509,1509,1509,1509,1509,1509,410256,Infection associated neutropenia,HPO,phenotype,PHENOTYPE_1509
1510,1510,1510,1510,1510,1510,1510,1510,3957,Cortical thickening of the forearm bones,HPO,phenotype,PHENOTYPE_1510
1511,1511,1511,1511,1511,1511,1511,1511,33258,Sudden unexpected death in epilepsy,HPO,phenotype,PHENOTYPE_1511
1512,1512,1512,1512,1512,1512,1512,1512,32911,Focal aware orofacial automatism seizure,HPO,phenotype,PHENOTYPE_1512
1513,1513,1513,1513,1513,1513,1513,1513,6528,Chronic lung disease,HPO,phenotype,PHENOTYPE_1513
1514,1514,1514,1514,1514,1514,1514,1514,41244,Fractured scapula,HPO,phenotype,PHENOTYPE_1514
1515,1515,1515,1515,1515,1515,1515,1515,12540,Axillary epidermoid cyst,HPO,phenotype,PHENOTYPE_1515
1516,1516,1516,1516,1516,1516,1516,1516,33429,Neuroinflammation,HPO,phenotype,PHENOTYPE_1516
1517,1517,1517,1517,1517,1517,1517,1517,12084,Abnormality of skeletal muscle fiber size,HPO,phenotype,PHENOTYPE_1517
1518,1518,1518,1518,1518,1518,1518,1518,1995,Hyperchloremic acidosis,HPO,phenotype,PHENOTYPE_1518
1519,1519,1519,1519,1519,1519,1519,1519,34063,Anti-islet antigen-2 antibody positivity,HPO,phenotype,PHENOTYPE_1519
1520,1520,1520,1520,1520,1520,1520,1520,2176,Spinal cord compression,HPO,phenotype,PHENOTYPE_1520
1521,1521,1521,1521,1521,1521,1521,1521,10799,Pinealoma,HPO,phenotype,PHENOTYPE_1521
1522,1522,1522,1522,1522,1522,1522,1522,4855,Reduced protein S activity,HPO,phenotype,PHENOTYPE_1522
1523,1523,1523,1523,1523,1523,1523,1523,6000986,Substantially elevated circulating ethanol concentration,HPO,phenotype,PHENOTYPE_1523
1524,1524,1524,1524,1524,1524,1524,1524,10856,EEG with periodic complexes,HPO,phenotype,PHENOTYPE_1524
1525,1525,1525,1525,1525,1525,1525,1525,12094,Abnormal pancreas size,HPO,phenotype,PHENOTYPE_1525
1526,1526,1526,1526,1526,1526,1526,1526,1808,Fragile nails,HPO,phenotype,PHENOTYPE_1526
1527,1527,1527,1527,1527,1527,1527,1527,34960,"Elevated urine 3,6-epoxydicarboxylic acid level",HPO,phenotype,PHENOTYPE_1527
1528,1528,1528,1528,1528,1528,1528,1528,32476,Abnormal circulating vitamin B6 concentration,HPO,phenotype,PHENOTYPE_1528
1529,1529,1529,1529,1529,1529,1529,1529,8122,Calcaneonavicular fusion,HPO,phenotype,PHENOTYPE_1529
1530,1530,1530,1530,1530,1530,1530,1530,100117,Ivory epiphysis of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_1530
1531,1531,1531,1531,1531,1531,1531,1531,33109,Abnormal circulating non-proteinogenic amino acid concentration,HPO,phenotype,PHENOTYPE_1531
1532,1532,1532,1532,1532,1532,1532,1532,34009,Pelvic lipomatosis,HPO,phenotype,PHENOTYPE_1532
1533,1533,1533,1533,1533,1533,1533,1533,3000009,Abnormality of nasalis muscle,HPO,phenotype,PHENOTYPE_1533
1534,1534,1534,1534,1534,1534,1534,1534,5498,Midline skin dimples over anterior/posterior fontanelles,HPO,phenotype,PHENOTYPE_1534
1535,1535,1535,1535,1535,1535,1535,1535,100051,Pseudoepiphyses of the 2nd toe,HPO,phenotype,PHENOTYPE_1535
1536,1536,1536,1536,1536,1536,1536,1536,1771,Achilles tendon contracture,HPO,phenotype,PHENOTYPE_1536
1537,1537,1537,1537,1537,1537,1537,1537,30388,Decreased proportion of class-switched memory B cells,HPO,phenotype,PHENOTYPE_1537
1538,1538,1538,1538,1538,1538,1538,1538,31285,Abnormal perifollicular morphology,HPO,phenotype,PHENOTYPE_1538
1539,1539,1539,1539,1539,1539,1539,1539,25017,Capillary fragility,HPO,phenotype,PHENOTYPE_1539
1540,1540,1540,1540,1540,1540,1540,1540,9551,Patchy sclerosis of 2nd finger phalanx,HPO,phenotype,PHENOTYPE_1540
1541,1541,1541,1541,1541,1541,1541,1541,12846,Multiple trichilemmomata,HPO,phenotype,PHENOTYPE_1541
1542,1542,1542,1542,1542,1542,1542,1542,6282,Generalized hypoplasia of dental enamel,HPO,phenotype,PHENOTYPE_1542
1543,1543,1543,1543,1543,1543,1543,1543,33500,Subendothelial glomerular basement membrane electron dense deposits,HPO,phenotype,PHENOTYPE_1543
1544,1544,1544,1544,1544,1544,1544,1544,34475,Increased fecal isocoproporphyrin,HPO,phenotype,PHENOTYPE_1544
1545,1545,1545,1545,1545,1545,1545,1545,10454,Acetabular spurs,HPO,phenotype,PHENOTYPE_1545
1546,1546,1546,1546,1546,1546,1546,1546,12018,EEG with temporal focal spikes,HPO,phenotype,PHENOTYPE_1546
1547,1547,1547,1547,1547,1547,1547,1547,430061,Bloodstream antibacterial antibody positivity,HPO,phenotype,PHENOTYPE_1547
1548,1548,1548,1548,1548,1548,1548,1548,7099,Chiari type I malformation,HPO,phenotype,PHENOTYPE_1548
1549,1549,1549,1549,1549,1549,1549,1549,5531,Biphenotypic acute leukemia,HPO,phenotype,PHENOTYPE_1549
1550,1550,1550,1550,1550,1550,1550,1550,2970,Genu varum,HPO,phenotype,PHENOTYPE_1550
1551,1551,1551,1551,1551,1551,1551,1551,5000012,Anti-Gephyrin antibody,HPO,phenotype,PHENOTYPE_1551
1552,1552,1552,1552,1552,1552,1552,1552,6568,Increased hepatic glycogen content,HPO,phenotype,PHENOTYPE_1552
1553,1553,1553,1553,1553,1553,1553,1553,134,Female hypogonadism,HPO,phenotype,PHENOTYPE_1553
1554,1554,1554,1554,1554,1554,1554,1554,11521,Deuteranopia,HPO,phenotype,PHENOTYPE_1554
1555,1555,1555,1555,1555,1555,1555,1555,3269,Sudanophilic leukodystrophy,HPO,phenotype,PHENOTYPE_1555
1556,1556,1556,1556,1556,1556,1556,1556,2849,Absence of lymph node germinal center,HPO,phenotype,PHENOTYPE_1556
1557,1557,1557,1557,1557,1557,1557,1557,25053,Elevated brain N-acetyl aspartate level by MRS,HPO,phenotype,PHENOTYPE_1557
1558,1558,1558,1558,1558,1558,1558,1558,5225,Intestinal edema,HPO,phenotype,PHENOTYPE_1558
1559,1559,1559,1559,1559,1559,1559,1559,11925,Decreased activity of mitochondrial ATP synthase complex,HPO,phenotype,PHENOTYPE_1559
1560,1560,1560,1560,1560,1560,1560,1560,20037,Astasia,HPO,phenotype,PHENOTYPE_1560
1561,1561,1561,1561,1561,1561,1561,1561,6434,Hypoplasia of proximal radius,HPO,phenotype,PHENOTYPE_1561
1562,1562,1562,1562,1562,1562,1562,1562,30386,Abnormal proportion of class-switched memory B cells,HPO,phenotype,PHENOTYPE_1562
1563,1563,1563,1563,1563,1563,1563,1563,2203,Respiratory paralysis,HPO,phenotype,PHENOTYPE_1563
1564,1564,1564,1564,1564,1564,1564,1564,200117,Recurrent upper and lower respiratory tract infections,HPO,phenotype,PHENOTYPE_1564
1565,1565,1565,1565,1565,1565,1565,1565,3774,Stage 5 chronic kidney disease,HPO,phenotype,PHENOTYPE_1565
1566,1566,1566,1566,1566,1566,1566,1566,6239,Shortening of all middle phalanges of the toes,HPO,phenotype,PHENOTYPE_1566
1567,1567,1567,1567,1567,1567,1567,1567,11441,Abnormal medulla oblongata morphology,HPO,phenotype,PHENOTYPE_1567
1568,1568,1568,1568,1568,1568,1568,1568,10344,Deviation of the 5th toe,HPO,phenotype,PHENOTYPE_1568
1569,1569,1569,1569,1569,1569,1569,1569,10539,Thin calvarium,HPO,phenotype,PHENOTYPE_1569
1570,1570,1570,1570,1570,1570,1570,1570,34721,Elevated circulating pristanic acid concentration,HPO,phenotype,PHENOTYPE_1570
1571,1571,1571,1571,1571,1571,1571,1571,30513,Difficulty adjusting from light to dark,HPO,phenotype,PHENOTYPE_1571
1572,1572,1572,1572,1572,1572,1572,1572,8181,Abetalipoproteinemia,HPO,phenotype,PHENOTYPE_1572
1573,1573,1573,1573,1573,1573,1573,1573,25295,Herpetiform,HPO,phenotype,PHENOTYPE_1573
1574,1574,1574,1574,1574,1574,1574,1574,10042,Aplasia/Hypoplasia of the 4th metacarpal,HPO,phenotype,PHENOTYPE_1574
1575,1575,1575,1575,1575,1575,1575,1575,25570,Choroidal vascular hyperpermeability,HPO,phenotype,PHENOTYPE_1575
1576,1576,1576,1576,1576,1576,1576,1576,100629,Midline facial cleft,HPO,phenotype,PHENOTYPE_1576
1577,1577,1577,1577,1577,1577,1577,1577,31213,Elevated circulating 17-hydroxyprogesterone concentration,HPO,phenotype,PHENOTYPE_1577
1578,1578,1578,1578,1578,1578,1578,1578,5413,Increased alpha-globulin,HPO,phenotype,PHENOTYPE_1578
1579,1579,1579,1579,1579,1579,1579,1579,2826,Halberd-shaped pelvis,HPO,phenotype,PHENOTYPE_1579
1580,1580,1580,1580,1580,1580,1580,1580,6000630,Hypoechoic breast mass,HPO,phenotype,PHENOTYPE_1580
1581,1581,1581,1581,1581,1581,1581,1581,410349,Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level,HPO,phenotype,PHENOTYPE_1581
1582,1582,1582,1582,1582,1582,1582,1582,34451,Rectovesical fistula,HPO,phenotype,PHENOTYPE_1582
1583,1583,1583,1583,1583,1583,1583,1583,100598,Pulmonary edema,HPO,phenotype,PHENOTYPE_1583
1584,1584,1584,1584,1584,1584,1584,1584,31194,Increased density of left ventricular trabeculae,HPO,phenotype,PHENOTYPE_1584
1585,1585,1585,1585,1585,1585,1585,1585,613,Photophobia,HPO,phenotype,PHENOTYPE_1585
1586,1586,1586,1586,1586,1586,1586,1586,1454,Abnormality of the upper arm,HPO,phenotype,PHENOTYPE_1586
1587,1587,1587,1587,1587,1587,1587,1587,11828,Midline sinus of philtrum,HPO,phenotype,PHENOTYPE_1587
1588,1588,1588,1588,1588,1588,1588,1588,11556,Double inlet right ventricle,HPO,phenotype,PHENOTYPE_1588
1589,1589,1589,1589,1589,1589,1589,1589,6000242,Decreased circulating complement component 1s concentration,HPO,phenotype,PHENOTYPE_1589
1590,1590,1590,1590,1590,1590,1590,1590,6000967,Decreased circulating transcobalamin I concentration,HPO,phenotype,PHENOTYPE_1590
1591,1591,1591,1591,1591,1591,1591,1591,34485,Neuroepithelial cyst,HPO,phenotype,PHENOTYPE_1591
1592,1592,1592,1592,1592,1592,1592,1592,31415,High serum calcitriol,HPO,phenotype,PHENOTYPE_1592
1593,1593,1593,1593,1593,1593,1593,1593,410330,Meat allergen allergy,HPO,phenotype,PHENOTYPE_1593
1594,1594,1594,1594,1594,1594,1594,1594,12899,Handgrip myotonia,HPO,phenotype,PHENOTYPE_1594
1595,1595,1595,1595,1595,1595,1595,1595,31833,Hypometric upward saccades,HPO,phenotype,PHENOTYPE_1595
1596,1596,1596,1596,1596,1596,1596,1596,6000028,Hazardous alcohol use,HPO,phenotype,PHENOTYPE_1596
1597,1597,1597,1597,1597,1597,1597,1597,1871,Abnormality of blood and blood-forming tissues,HPO,phenotype,PHENOTYPE_1597
1598,1598,1598,1598,1598,1598,1598,1598,9829,Phocomelia,HPO,phenotype,PHENOTYPE_1598
1599,1599,1599,1599,1599,1599,1599,1599,100835,Benign neoplasm of the central nervous system,HPO,phenotype,PHENOTYPE_1599
1600,1600,1600,1600,1600,1600,1600,1600,6000453,Bilioduodenal fistula,HPO,phenotype,PHENOTYPE_1600
1601,1601,1601,1601,1601,1601,1601,1601,8259,Adrenocorticotropin receptor defect,HPO,phenotype,PHENOTYPE_1601
1602,1602,1602,1602,1602,1602,1602,1602,32846,Focal motor seizure with negative myoclonus,HPO,phenotype,PHENOTYPE_1602
1603,1603,1603,1603,1603,1603,1603,1603,10904,Abnormal circulating histidine concentration,HPO,phenotype,PHENOTYPE_1603
1604,1604,1604,1604,1604,1604,1604,1604,3587,Insidious onset,HPO,phenotype,PHENOTYPE_1604
1605,1605,1605,1605,1605,1605,1605,1605,2217,Slow-growing hair,HPO,phenotype,PHENOTYPE_1605
1606,1606,1606,1606,1606,1606,1606,1606,25477,Periarticular calcification,HPO,phenotype,PHENOTYPE_1606
1607,1607,1607,1607,1607,1607,1607,1607,33743,Macular agenesis,HPO,phenotype,PHENOTYPE_1607
1608,1608,1608,1608,1608,1608,1608,1608,100199,Small epiphysis of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_1608
1609,1609,1609,1609,1609,1609,1609,1609,2879,Anisospondyly,HPO,phenotype,PHENOTYPE_1609
1610,1610,1610,1610,1610,1610,1610,1610,6011,Cuboidal metacarpal,HPO,phenotype,PHENOTYPE_1610
1611,1611,1611,1611,1611,1611,1611,1611,3458,EMG: myopathic abnormalities,HPO,phenotype,PHENOTYPE_1611
1612,1612,1612,1612,1612,1612,1612,1612,31028,Lactescent serum,HPO,phenotype,PHENOTYPE_1612
1613,1613,1613,1613,1613,1613,1613,1613,7268,Aprosencephaly,HPO,phenotype,PHENOTYPE_1613
1614,1614,1614,1614,1614,1614,1614,1614,40182,Inappropriate sinus tachycardia,HPO,phenotype,PHENOTYPE_1614
1615,1615,1615,1615,1615,1615,1615,1615,33442,Elevated circulating glutarylcarnitine concentration,HPO,phenotype,PHENOTYPE_1615
1616,1616,1616,1616,1616,1616,1616,1616,34397,Claw toe deformity,HPO,phenotype,PHENOTYPE_1616
1617,1617,1617,1617,1617,1617,1617,1617,6000053,Snowstorm pattern of uterus on ultrasound,HPO,phenotype,PHENOTYPE_1617
1618,1618,1618,1618,1618,1618,1618,1618,25571,Christmas tree cataract,HPO,phenotype,PHENOTYPE_1618
1619,1619,1619,1619,1619,1619,1619,1619,11005,Mixed cirrhosis,HPO,phenotype,PHENOTYPE_1619
1620,1620,1620,1620,1620,1620,1620,1620,9601,Aplasia/Hypoplasia of the thumb,HPO,phenotype,PHENOTYPE_1620
1621,1621,1621,1621,1621,1621,1621,1621,3798,Nemaline bodies,HPO,phenotype,PHENOTYPE_1621
1622,1622,1622,1622,1622,1622,1622,1622,6000631,Unilocular ovarian cyst,HPO,phenotype,PHENOTYPE_1622
1623,1623,1623,1623,1623,1623,1623,1623,40190,White scaling skin,HPO,phenotype,PHENOTYPE_1623
1624,1624,1624,1624,1624,1624,1624,1624,11115,Abnormal circulating chemokine concentration,HPO,phenotype,PHENOTYPE_1624
1625,1625,1625,1625,1625,1625,1625,1625,763,Sensory neuropathy,HPO,phenotype,PHENOTYPE_1625
1626,1626,1626,1626,1626,1626,1626,1626,100577,Urinary bladder inflammation,HPO,phenotype,PHENOTYPE_1626
1627,1627,1627,1627,1627,1627,1627,1627,12269,Abnormal muscle glycogen content,HPO,phenotype,PHENOTYPE_1627
1628,1628,1628,1628,1628,1628,1628,1628,5063,"Fragmented, irregular epiphyses",HPO,phenotype,PHENOTYPE_1628
1629,1629,1629,1629,1629,1629,1629,1629,410203,Positive gastric fluid barbiturate test,HPO,phenotype,PHENOTYPE_1629
1630,1630,1630,1630,1630,1630,1630,1630,9142,Duplication of bones involving the upper extremities,HPO,phenotype,PHENOTYPE_1630
1631,1631,1631,1631,1631,1631,1631,1631,30286,Atrophic superior cerebellar peduncle,HPO,phenotype,PHENOTYPE_1631
1632,1632,1632,1632,1632,1632,1632,1632,6000804,Elevated urine fructose level,HPO,phenotype,PHENOTYPE_1632
1633,1633,1633,1633,1633,1633,1633,1633,6756,Diffuse leiomyomatosis,HPO,phenotype,PHENOTYPE_1633
1634,1634,1634,1634,1634,1634,1634,1634,500237,Decreased CSF histidine concentration,HPO,phenotype,PHENOTYPE_1634
1635,1635,1635,1635,1635,1635,1635,1635,6000064,Excessive eructation,HPO,phenotype,PHENOTYPE_1635
1636,1636,1636,1636,1636,1636,1636,1636,49,Shawl scrotum,HPO,phenotype,PHENOTYPE_1636
1637,1637,1637,1637,1637,1637,1637,1637,25182,Localized area of pendulous skin,HPO,phenotype,PHENOTYPE_1637
1638,1638,1638,1638,1638,1638,1638,1638,31040,Round spermatid arrest,HPO,phenotype,PHENOTYPE_1638
1639,1639,1639,1639,1639,1639,1639,1639,7569,Generalized seborrheic dermatitis,HPO,phenotype,PHENOTYPE_1639
1640,1640,1640,1640,1640,1640,1640,1640,25662,Abnormal fetal skeletal morphology,HPO,phenotype,PHENOTYPE_1640
1641,1641,1641,1641,1641,1641,1641,1641,11488,Abnormal corneal endothelium morphology,HPO,phenotype,PHENOTYPE_1641
1642,1642,1642,1642,1642,1642,1642,1642,4719,Hyperechogenic kidneys,HPO,phenotype,PHENOTYPE_1642
1643,1643,1643,1643,1643,1643,1643,1643,6014,Abnormally shaped carpal bones,HPO,phenotype,PHENOTYPE_1643
1644,1644,1644,1644,1644,1644,1644,1644,4000054,Exanthem,HPO,phenotype,PHENOTYPE_1644
1645,1645,1645,1645,1645,1645,1645,1645,25228,Triggered by sudden movement,HPO,phenotype,PHENOTYPE_1645
1646,1646,1646,1646,1646,1646,1646,1646,6000056,Superficial blush-like subcutaneous fatty lesions,HPO,phenotype,PHENOTYPE_1646
1647,1647,1647,1647,1647,1647,1647,1647,1520,Large for gestational age,HPO,phenotype,PHENOTYPE_1647
1648,1648,1648,1648,1648,1648,1648,1648,33607,Bone marrow arrest at the promyelocytic stage,HPO,phenotype,PHENOTYPE_1648
1649,1649,1649,1649,1649,1649,1649,1649,31531,Sub-RPE deposits,HPO,phenotype,PHENOTYPE_1649
1650,1650,1650,1650,1650,1650,1650,1650,3958,Cross-fusion of the forearm bones,HPO,phenotype,PHENOTYPE_1650
1651,1651,1651,1651,1651,1651,1651,1651,6000949,Sodium glucose transport inhibitor exposure,HPO,phenotype,PHENOTYPE_1651
1652,1652,1652,1652,1652,1652,1652,1652,200053,Hemihypotrophy of lower limb,HPO,phenotype,PHENOTYPE_1652
1653,1653,1653,1653,1653,1653,1653,1653,8096,Medially deviated second toe,HPO,phenotype,PHENOTYPE_1653
1654,1654,1654,1654,1654,1654,1654,1654,10992,Stress urinary incontinence,HPO,phenotype,PHENOTYPE_1654
1655,1655,1655,1655,1655,1655,1655,1655,34404,Fungal hyphae in sputum,HPO,phenotype,PHENOTYPE_1655
1656,1656,1656,1656,1656,1656,1656,1656,31620,Anterior chamber flare grade 3+,HPO,phenotype,PHENOTYPE_1656
1657,1657,1657,1657,1657,1657,1657,1657,5590,Spotty hypopigmentation,HPO,phenotype,PHENOTYPE_1657
1658,1658,1658,1658,1658,1658,1658,1658,25456,Abnormal CSF protein concentration,HPO,phenotype,PHENOTYPE_1658
1659,1659,1659,1659,1659,1659,1659,1659,40259,Aplastic nasopharyngeal adenoids,HPO,phenotype,PHENOTYPE_1659
1660,1660,1660,1660,1660,1660,1660,1660,100623,Abnormal corpus cavernosum morphology,HPO,phenotype,PHENOTYPE_1660
1661,1661,1661,1661,1661,1661,1661,1661,40192,APUdoma,HPO,phenotype,PHENOTYPE_1661
1662,1662,1662,1662,1662,1662,1662,1662,32965,Interstitial emphysema,HPO,phenotype,PHENOTYPE_1662
1663,1663,1663,1663,1663,1663,1663,1663,33369,Cavitating leukodystrophy,HPO,phenotype,PHENOTYPE_1663
1664,1664,1664,1664,1664,1664,1664,1664,11917,Short 5th toe,HPO,phenotype,PHENOTYPE_1664
1665,1665,1665,1665,1665,1665,1665,1665,6000167,Use of intrauterine device,HPO,phenotype,PHENOTYPE_1665
1666,1666,1666,1666,1666,1666,1666,1666,9506,Fragmentation of the epiphysis of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_1666
1667,1667,1667,1667,1667,1667,1667,1667,6000048,Chest pain described as pressure,HPO,phenotype,PHENOTYPE_1667
1668,1668,1668,1668,1668,1668,1668,1668,8053,Aplasia/Hypoplasia of the iris,HPO,phenotype,PHENOTYPE_1668
1669,1669,1669,1669,1669,1669,1669,1669,33150,Anorectal abscess,HPO,phenotype,PHENOTYPE_1669
1670,1670,1670,1670,1670,1670,1670,1670,30146,Abnormal liver parenchyma morphology,HPO,phenotype,PHENOTYPE_1670
1671,1671,1671,1671,1671,1671,1671,1671,12192,Cutaneous T-cell lymphoma,HPO,phenotype,PHENOTYPE_1671
1672,1672,1672,1672,1672,1672,1672,1672,8393,Congenital curved nail of fourth toe,HPO,phenotype,PHENOTYPE_1672
1673,1673,1673,1673,1673,1673,1673,1673,6000200,Reduced hepatic glucose-6-phosphatase activity,HPO,phenotype,PHENOTYPE_1673
1674,1674,1674,1674,1674,1674,1674,1674,31639,Absent left main coronary artery,HPO,phenotype,PHENOTYPE_1674
1675,1675,1675,1675,1675,1675,1675,1675,795,Abnormality of the urethra,HPO,phenotype,PHENOTYPE_1675
1676,1676,1676,1676,1676,1676,1676,1676,3214,Prolonged G2 phase of cell cycle,HPO,phenotype,PHENOTYPE_1676
1677,1677,1677,1677,1677,1677,1677,1677,2353,EEG abnormality,HPO,phenotype,PHENOTYPE_1677
1678,1678,1678,1678,1678,1678,1678,1678,298,Mask-like facies,HPO,phenotype,PHENOTYPE_1678
1679,1679,1679,1679,1679,1679,1679,1679,9077,Weakness of long finger extensor muscles,HPO,phenotype,PHENOTYPE_1679
1680,1680,1680,1680,1680,1680,1680,1680,31519,Cauliflower deformity of dermal collagen fibrils,HPO,phenotype,PHENOTYPE_1680
1681,1681,1681,1681,1681,1681,1681,1681,517,Abnormal lens morphology,HPO,phenotype,PHENOTYPE_1681
1682,1682,1682,1682,1682,1682,1682,1682,12903,Myotonia of the upper limb,HPO,phenotype,PHENOTYPE_1682
1683,1683,1683,1683,1683,1683,1683,1683,5000028,Anti-MAP1B antibody,HPO,phenotype,PHENOTYPE_1683
1684,1684,1684,1684,1684,1684,1684,1684,3241,External genital hypoplasia,HPO,phenotype,PHENOTYPE_1684
1685,1685,1685,1685,1685,1685,1685,1685,85,Horseshoe kidney,HPO,phenotype,PHENOTYPE_1685
1686,1686,1686,1686,1686,1686,1686,1686,6479,Abnormal dental pulp morphology,HPO,phenotype,PHENOTYPE_1686
1687,1687,1687,1687,1687,1687,1687,1687,6450,Multicentric ossification of proximal femoral epiphyses,HPO,phenotype,PHENOTYPE_1687
1688,1688,1688,1688,1688,1688,1688,1688,11733,Abnormality of adrenal physiology,HPO,phenotype,PHENOTYPE_1688
1689,1689,1689,1689,1689,1689,1689,1689,12828,Severe,HPO,phenotype,PHENOTYPE_1689
1690,1690,1690,1690,1690,1690,1690,1690,6000694,Elevated circulating 1-pyrroline-5-carboxylic acid concentration,HPO,phenotype,PHENOTYPE_1690
1691,1691,1691,1691,1691,1691,1691,1691,3115,Abnormal EKG,HPO,phenotype,PHENOTYPE_1691
1692,1692,1692,1692,1692,1692,1692,1692,12685,Decreased pineal volume,HPO,phenotype,PHENOTYPE_1692
1693,1693,1693,1693,1693,1693,1693,1693,25046,Reduced brain lactate level by MRS,HPO,phenotype,PHENOTYPE_1693
1694,1694,1694,1694,1694,1694,1694,1694,12585,Renal atrophy,HPO,phenotype,PHENOTYPE_1694
1695,1695,1695,1695,1695,1695,1695,1695,41119,Fractured metacarpus skeleton,HPO,phenotype,PHENOTYPE_1695
1696,1696,1696,1696,1696,1696,1696,1696,31996,Inspiratory crackles,HPO,phenotype,PHENOTYPE_1696
1697,1697,1697,1697,1697,1697,1697,1697,100065,Triangular epiphyses of the 3rd toe,HPO,phenotype,PHENOTYPE_1697
1698,1698,1698,1698,1698,1698,1698,1698,4332,Abnormal lymphocyte morphology,HPO,phenotype,PHENOTYPE_1698
1699,1699,1699,1699,1699,1699,1699,1699,25503,Anomalous coronary artery arising from the opposite sinus,HPO,phenotype,PHENOTYPE_1699
1700,1700,1700,1700,1700,1700,1700,1700,10173,Aplasia/Hypoplasia of the phalanges of the toes,HPO,phenotype,PHENOTYPE_1700
1701,1701,1701,1701,1701,1701,1701,1701,3852,Normal density transverse bands in metaphyses of the upper limbs,HPO,phenotype,PHENOTYPE_1701
1702,1702,1702,1702,1702,1702,1702,1702,10775,Vascular ring,HPO,phenotype,PHENOTYPE_1702
1703,1703,1703,1703,1703,1703,1703,1703,12407,Scissor gait,HPO,phenotype,PHENOTYPE_1703
1704,1704,1704,1704,1704,1704,1704,1704,10686,Low alkaline phosphatase of hepatic origin,HPO,phenotype,PHENOTYPE_1704
1705,1705,1705,1705,1705,1705,1705,1705,34839,Lymphoid hyperplasia,HPO,phenotype,PHENOTYPE_1705
1706,1706,1706,1706,1706,1706,1706,1706,40079,Irregular dentition,HPO,phenotype,PHENOTYPE_1706
1707,1707,1707,1707,1707,1707,1707,1707,12318,Occipital neuralgia,HPO,phenotype,PHENOTYPE_1707
1708,1708,1708,1708,1708,1708,1708,1708,12205,Globozoospermia,HPO,phenotype,PHENOTYPE_1708
1709,1709,1709,1709,1709,1709,1709,1709,100150,Fragmentation of the epiphysis of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_1709
1710,1710,1710,1710,1710,1710,1710,1710,12341,Microprolactinoma,HPO,phenotype,PHENOTYPE_1710
1711,1711,1711,1711,1711,1711,1711,1711,100075,Stippling of the epiphyses of the 4th toe,HPO,phenotype,PHENOTYPE_1711
1712,1712,1712,1712,1712,1712,1712,1712,9535,Aplasia of the 2nd finger,HPO,phenotype,PHENOTYPE_1712
1713,1713,1713,1713,1713,1713,1713,1713,410210,Abnormal cord blood measurement,HPO,phenotype,PHENOTYPE_1713
1714,1714,1714,1714,1714,1714,1714,1714,100776,Recurrent pharyngitis,HPO,phenotype,PHENOTYPE_1714
1715,1715,1715,1715,1715,1715,1715,1715,12306,Abnormal rib ossification,HPO,phenotype,PHENOTYPE_1715
1716,1716,1716,1716,1716,1716,1716,1716,10892,Abnormal circulating branched chain amino acid concentration,HPO,phenotype,PHENOTYPE_1716
1717,1717,1717,1717,1717,1717,1717,1717,667,Phthisis bulbi,HPO,phenotype,PHENOTYPE_1717
1718,1718,1718,1718,1718,1718,1718,1718,30420,Vulvar adenocarcinoma,HPO,phenotype,PHENOTYPE_1718
1719,1719,1719,1719,1719,1719,1719,1719,12320,Absent pigmentation of the limbs,HPO,phenotype,PHENOTYPE_1719
1720,1720,1720,1720,1720,1720,1720,1720,2200,Pseudobulbar signs,HPO,phenotype,PHENOTYPE_1720
1721,1721,1721,1721,1721,1721,1721,1721,7574,Generalized bronze hyperpigmentation,HPO,phenotype,PHENOTYPE_1721
1722,1722,1722,1722,1722,1722,1722,1722,31090,Finger dactylitis,HPO,phenotype,PHENOTYPE_1722
1723,1723,1723,1723,1723,1723,1723,1723,5200037,Lack of expressed empathy,HPO,phenotype,PHENOTYPE_1723
1724,1724,1724,1724,1724,1724,1724,1724,12177,Abnormal natural killer cell physiology,HPO,phenotype,PHENOTYPE_1724
1725,1725,1725,1725,1725,1725,1725,1725,33509,EBV encephalitis,HPO,phenotype,PHENOTYPE_1725
1726,1726,1726,1726,1726,1726,1726,1726,5849,Diffuse cerebral calcification,HPO,phenotype,PHENOTYPE_1726
1727,1727,1727,1727,1727,1727,1727,1727,100797,Toenail dysplasia,HPO,phenotype,PHENOTYPE_1727
1728,1728,1728,1728,1728,1728,1728,1728,34204,Decreased circulating C1-esterase inhibitor concentration,HPO,phenotype,PHENOTYPE_1728
1729,1729,1729,1729,1729,1729,1729,1729,100119,Small epiphysis of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_1729
1730,1730,1730,1730,1730,1730,1730,1730,33353,Abnormal blood vessel morphology,HPO,phenotype,PHENOTYPE_1730
1731,1731,1731,1731,1731,1731,1731,1731,200008,Intestinal polyposis,HPO,phenotype,PHENOTYPE_1731
1732,1732,1732,1732,1732,1732,1732,1732,32419,Abnormal HDL2a concentration,HPO,phenotype,PHENOTYPE_1732
1733,1733,1733,1733,1733,1733,1733,1733,4787,Fulminant hepatitis,HPO,phenotype,PHENOTYPE_1733
1734,1734,1734,1734,1734,1734,1734,1734,4844,Coombs-positive hemolytic anemia,HPO,phenotype,PHENOTYPE_1734
1735,1735,1735,1735,1735,1735,1735,1735,6623,Costochondral joint sclerosis,HPO,phenotype,PHENOTYPE_1735
1736,1736,1736,1736,1736,1736,1736,1736,4309,Ventricular preexcitation,HPO,phenotype,PHENOTYPE_1736
1737,1737,1737,1737,1737,1737,1737,1737,4861,Refractory macrocytic anemia,HPO,phenotype,PHENOTYPE_1737
1738,1738,1738,1738,1738,1738,1738,1738,32619,Perinephric abscess,HPO,phenotype,PHENOTYPE_1738
1739,1739,1739,1739,1739,1739,1739,1739,5995,Decreased adipose tissue around neck,HPO,phenotype,PHENOTYPE_1739
1740,1740,1740,1740,1740,1740,1740,1740,1641,Abnormal pulmonary valve morphology,HPO,phenotype,PHENOTYPE_1740
1741,1741,1741,1741,1741,1741,1741,1741,319,Smooth philtrum,HPO,phenotype,PHENOTYPE_1741
1742,1742,1742,1742,1742,1742,1742,1742,11808,Decreased patellar reflex,HPO,phenotype,PHENOTYPE_1742
1743,1743,1743,1743,1743,1743,1743,1743,12078,Motor conduction block,HPO,phenotype,PHENOTYPE_1743
1744,1744,1744,1744,1744,1744,1744,1744,30371,Increased proportion of naive B cells,HPO,phenotype,PHENOTYPE_1744
1745,1745,1745,1745,1745,1745,1745,1745,2745,Oral leukoplakia,HPO,phenotype,PHENOTYPE_1745
1746,1746,1746,1746,1746,1746,1746,1746,34295,Reduced cerebral white matter volume,HPO,phenotype,PHENOTYPE_1746
1747,1747,1747,1747,1747,1747,1747,1747,34931,Lumbar spondylosis,HPO,phenotype,PHENOTYPE_1747
1748,1748,1748,1748,1748,1748,1748,1748,9420,Triangular epiphyses of the 3rd finger,HPO,phenotype,PHENOTYPE_1748
1749,1749,1749,1749,1749,1749,1749,1749,20111,Abnormal CD4+CD25+ regulatory T cell proportion,HPO,phenotype,PHENOTYPE_1749
1750,1750,1750,1750,1750,1750,1750,1750,4000031,Anti-type VII collagen antibody,HPO,phenotype,PHENOTYPE_1750
1751,1751,1751,1751,1751,1751,1751,1751,32909,Focal impaired awareness automatism seizure,HPO,phenotype,PHENOTYPE_1751
1752,1752,1752,1752,1752,1752,1752,1752,33915,Arcuate artery intimal mucoid edema,HPO,phenotype,PHENOTYPE_1752
1753,1753,1753,1753,1753,1753,1753,1753,30026,Squared superior portion of helix,HPO,phenotype,PHENOTYPE_1753
1754,1754,1754,1754,1754,1754,1754,1754,11687,AV nodal tachycardia,HPO,phenotype,PHENOTYPE_1754
1755,1755,1755,1755,1755,1755,1755,1755,31856,Hobby horse gait,HPO,phenotype,PHENOTYPE_1755
1756,1756,1756,1756,1756,1756,1756,1756,20088,Post-vaccination measles,HPO,phenotype,PHENOTYPE_1756
1757,1757,1757,1757,1757,1757,1757,1757,31771,Epicanthus tarsalis,HPO,phenotype,PHENOTYPE_1757
1758,1758,1758,1758,1758,1758,1758,1758,34614,Elevated circulating erythritol concentration,HPO,phenotype,PHENOTYPE_1758
1759,1759,1759,1759,1759,1759,1759,1759,8516,Abnormality of the vertebral spinous processes,HPO,phenotype,PHENOTYPE_1759
1760,1760,1760,1760,1760,1760,1760,1760,6000466,Elevated urine 3-methyladipic acid level,HPO,phenotype,PHENOTYPE_1760
1761,1761,1761,1761,1761,1761,1761,1761,6000722,Reduced tissue guanidinoacetate methyltransferase activity,HPO,phenotype,PHENOTYPE_1761
1762,1762,1762,1762,1762,1762,1762,1762,1722,High-output congestive heart failure,HPO,phenotype,PHENOTYPE_1762
1763,1763,1763,1763,1763,1763,1763,1763,9615,Complete duplication of the first metacarpal,HPO,phenotype,PHENOTYPE_1763
1764,1764,1764,1764,1764,1764,1764,1764,100534,Episcleritis,HPO,phenotype,PHENOTYPE_1764
1765,1765,1765,1765,1765,1765,1765,1765,5201008,Complete cleft maxillary alveolar ridge,HPO,phenotype,PHENOTYPE_1765
1766,1766,1766,1766,1766,1766,1766,1766,31095,Abnormal humerus morphology,HPO,phenotype,PHENOTYPE_1766
1767,1767,1767,1767,1767,1767,1767,1767,12256,Absent outer dynein arms,HPO,phenotype,PHENOTYPE_1767
1768,1768,1768,1768,1768,1768,1768,1768,30023,Quelprud nodule,HPO,phenotype,PHENOTYPE_1768
1769,1769,1769,1769,1769,1769,1769,1769,5200132,Atypical sensory examination of objects,HPO,phenotype,PHENOTYPE_1769
1770,1770,1770,1770,1770,1770,1770,1770,12757,Abnormal neuron morphology,HPO,phenotype,PHENOTYPE_1770
1771,1771,1771,1771,1771,1771,1771,1771,1820,Leukonychia,HPO,phenotype,PHENOTYPE_1771
1772,1772,1772,1772,1772,1772,1772,1772,6480,Premature loss of teeth,HPO,phenotype,PHENOTYPE_1772
1773,1773,1773,1773,1773,1773,1773,1773,8371,Abnormal metatarsal ossification,HPO,phenotype,PHENOTYPE_1773
1774,1774,1774,1774,1774,1774,1774,1774,1951,Episodic ammonia intoxication,HPO,phenotype,PHENOTYPE_1774
1775,1775,1775,1775,1775,1775,1775,1775,969,Edema,HPO,phenotype,PHENOTYPE_1775
1776,1776,1776,1776,1776,1776,1776,1776,25617,Abnormal plasma cell count,HPO,phenotype,PHENOTYPE_1776
1777,1777,1777,1777,1777,1777,1777,1777,30851,Low pulse pressure,HPO,phenotype,PHENOTYPE_1777
1778,1778,1778,1778,1778,1778,1778,1778,410021,Musty odor,HPO,phenotype,PHENOTYPE_1778
1779,1779,1779,1779,1779,1779,1779,1779,20281,Finely dispersed lymph node lymphocyte chromatin,HPO,phenotype,PHENOTYPE_1779
1780,1780,1780,1780,1780,1780,1780,1780,8772,Aplasia/Hypoplasia of the external ear,HPO,phenotype,PHENOTYPE_1780
1781,1781,1781,1781,1781,1781,1781,1781,34092,Anti-cyclic citrullinated peptide antibody positivity,HPO,phenotype,PHENOTYPE_1781
1782,1782,1782,1782,1782,1782,1782,1782,100454,Osteolytic defects of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_1782
1783,1783,1783,1783,1783,1783,1783,1783,32719,Focal impaired awareness motor seizure with dysarthria/anarthria,HPO,phenotype,PHENOTYPE_1783
1784,1784,1784,1784,1784,1784,1784,1784,32162,Unusual skin infection,HPO,phenotype,PHENOTYPE_1784
1785,1785,1785,1785,1785,1785,1785,1785,7560,Unusual dermatoglyphics,HPO,phenotype,PHENOTYPE_1785
1786,1786,1786,1786,1786,1786,1786,1786,9956,Partial duplication of the phalanges of the 2nd finger,HPO,phenotype,PHENOTYPE_1786
1787,1787,1787,1787,1787,1787,1787,1787,33329,Abnormal postural reflex,HPO,phenotype,PHENOTYPE_1787
1788,1788,1788,1788,1788,1788,1788,1788,10373,Bullet-shaped 4th toe phalanx,HPO,phenotype,PHENOTYPE_1788
1789,1789,1789,1789,1789,1789,1789,1789,5680,Tongue-like lumbar vertebral deformities,HPO,phenotype,PHENOTYPE_1789
1790,1790,1790,1790,1790,1790,1790,1790,11271,Prominent tragus,HPO,phenotype,PHENOTYPE_1790
1791,1791,1791,1791,1791,1791,1791,1791,20075,Leucine crystalluria,HPO,phenotype,PHENOTYPE_1791
1792,1792,1792,1792,1792,1792,1792,1792,33993,Viral encephalitis,HPO,phenotype,PHENOTYPE_1792
1793,1793,1793,1793,1793,1793,1793,1793,4966,Medial calcification of large arteries,HPO,phenotype,PHENOTYPE_1793
1794,1794,1794,1794,1794,1794,1794,1794,1841,Preaxial foot polydactyly,HPO,phenotype,PHENOTYPE_1794
1795,1795,1795,1795,1795,1795,1795,1795,12877,Retrograde ejaculation,HPO,phenotype,PHENOTYPE_1795
1796,1796,1796,1796,1796,1796,1796,1796,30035,Struvite nephrolithiasis,HPO,phenotype,PHENOTYPE_1796
1797,1797,1797,1797,1797,1797,1797,1797,25671,Fetal pericardial effusion,HPO,phenotype,PHENOTYPE_1797
1798,1798,1798,1798,1798,1798,1798,1798,4000090,Abnormal gesture use,HPO,phenotype,PHENOTYPE_1798
1799,1799,1799,1799,1799,1799,1799,1799,32509,Onychotillomania,HPO,phenotype,PHENOTYPE_1799
1800,1800,1800,1800,1800,1800,1800,1800,10298,Smooth tongue,HPO,phenotype,PHENOTYPE_1800
1801,1801,1801,1801,1801,1801,1801,1801,11629,Total absence of the pericardium,HPO,phenotype,PHENOTYPE_1801
1802,1802,1802,1802,1802,1802,1802,1802,31033,Impaired urinary acidification,HPO,phenotype,PHENOTYPE_1802
1803,1803,1803,1803,1803,1803,1803,1803,7000,Morning myoclonic jerks,HPO,phenotype,PHENOTYPE_1803
1804,1804,1804,1804,1804,1804,1804,1804,31474,Pulmonary chondroma,HPO,phenotype,PHENOTYPE_1804
1805,1805,1805,1805,1805,1805,1805,1805,34844,Fetal methimazole exposure,HPO,phenotype,PHENOTYPE_1805
1806,1806,1806,1806,1806,1806,1806,1806,33807,Absent keratohyalin granules,HPO,phenotype,PHENOTYPE_1806
1807,1807,1807,1807,1807,1807,1807,1807,5925,Abnormal hand diaphysis morphology,HPO,phenotype,PHENOTYPE_1807
1808,1808,1808,1808,1808,1808,1808,1808,9424,Osteolytic defects of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_1808
1809,1809,1809,1809,1809,1809,1809,1809,100107,Pseudoepiphysis of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_1809
1810,1810,1810,1810,1810,1810,1810,1810,410392,"Increased proportion of CD8-positive, alpha-beta memory T cells",HPO,phenotype,PHENOTYPE_1810
1811,1811,1811,1811,1811,1811,1811,1811,11003,High myopia,HPO,phenotype,PHENOTYPE_1811
1812,1812,1812,1812,1812,1812,1812,1812,1579,Primary hypercortisolism,HPO,phenotype,PHENOTYPE_1812
1813,1813,1813,1813,1813,1813,1813,1813,41194,Fractured epiphysis of second metatarsal bone,HPO,phenotype,PHENOTYPE_1813
1814,1814,1814,1814,1814,1814,1814,1814,32035,Lower eyelid laxity,HPO,phenotype,PHENOTYPE_1814
1815,1815,1815,1815,1815,1815,1815,1815,100524,Limb duplication,HPO,phenotype,PHENOTYPE_1815
1816,1816,1816,1816,1816,1816,1816,1816,5576,Tubulointerstitial fibrosis,HPO,phenotype,PHENOTYPE_1816
1817,1817,1817,1817,1817,1817,1817,1817,30805,Absent lunula,HPO,phenotype,PHENOTYPE_1817
1818,1818,1818,1818,1818,1818,1818,1818,6000039,Pulsatile liver,HPO,phenotype,PHENOTYPE_1818
1819,1819,1819,1819,1819,1819,1819,1819,34114,Anti-hexokinase-1 antibody positivity,HPO,phenotype,PHENOTYPE_1819
1820,1820,1820,1820,1820,1820,1820,1820,6000304,Recent foraged mushroom consumption,HPO,phenotype,PHENOTYPE_1820
1821,1821,1821,1821,1821,1821,1821,1821,3362,Increased VLDL cholesterol concentration,HPO,phenotype,PHENOTYPE_1821
1822,1822,1822,1822,1822,1822,1822,1822,34789,Muscular vasculitis,HPO,phenotype,PHENOTYPE_1822
1823,1823,1823,1823,1823,1823,1823,1823,32030,Lateral canthal tendon laxity,HPO,phenotype,PHENOTYPE_1823
1824,1824,1824,1824,1824,1824,1824,1824,41143,Fractured tibia,HPO,phenotype,PHENOTYPE_1824
1825,1825,1825,1825,1825,1825,1825,1825,10685,Low alkaline phosphatase of renal origin,HPO,phenotype,PHENOTYPE_1825
1826,1826,1826,1826,1826,1826,1826,1826,11234,Absent antihelix,HPO,phenotype,PHENOTYPE_1826
1827,1827,1827,1827,1827,1827,1827,1827,6682,Premature ventricular contraction,HPO,phenotype,PHENOTYPE_1827
1828,1828,1828,1828,1828,1828,1828,1828,8048,Abnormal line of Schwalbe morphology,HPO,phenotype,PHENOTYPE_1828
1829,1829,1829,1829,1829,1829,1829,1829,6000181,History of radiation therapy,HPO,phenotype,PHENOTYPE_1829
1830,1830,1830,1830,1830,1830,1830,1830,30268,Hyperplastic callus formation,HPO,phenotype,PHENOTYPE_1830
1831,1831,1831,1831,1831,1831,1831,1831,572,Visual loss,HPO,phenotype,PHENOTYPE_1831
1832,1832,1832,1832,1832,1832,1832,1832,178,Abnormal lower lip morphology,HPO,phenotype,PHENOTYPE_1832
1833,1833,1833,1833,1833,1833,1833,1833,9987,Partial duplication of the phalanges of the 5th finger,HPO,phenotype,PHENOTYPE_1833
1834,1834,1834,1834,1834,1834,1834,1834,41236,Fractured middle finger phalanx,HPO,phenotype,PHENOTYPE_1834
1835,1835,1835,1835,1835,1835,1835,1835,2373,Febrile seizure (within the age range of 3 months to 6 years),HPO,phenotype,PHENOTYPE_1835
1836,1836,1836,1836,1836,1836,1836,1836,430003,Abnormal palatine bone morphology,HPO,phenotype,PHENOTYPE_1836
1837,1837,1837,1837,1837,1837,1837,1837,6000585,Brain parenchymal tuberculoma,HPO,phenotype,PHENOTYPE_1837
1838,1838,1838,1838,1838,1838,1838,1838,8773,Aplasia/Hypoplasia of the middle ear,HPO,phenotype,PHENOTYPE_1838
1839,1839,1839,1839,1839,1839,1839,1839,4639,Elevated amniotic fluid alpha-fetoprotein,HPO,phenotype,PHENOTYPE_1839
1840,1840,1840,1840,1840,1840,1840,1840,20074,Crystalluria,HPO,phenotype,PHENOTYPE_1840
1841,1841,1841,1841,1841,1841,1841,1841,6000408,Reduced CSF asparagine concentration,HPO,phenotype,PHENOTYPE_1841
1842,1842,1842,1842,1842,1842,1842,1842,32793,Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia,HPO,phenotype,PHENOTYPE_1842
1843,1843,1843,1843,1843,1843,1843,1843,10071,Osteolytic defects of the 1st metatarsal,HPO,phenotype,PHENOTYPE_1843
1844,1844,1844,1844,1844,1844,1844,1844,5200205,Illusions,HPO,phenotype,PHENOTYPE_1844
1845,1845,1845,1845,1845,1845,1845,1845,40019,Finger clinodactyly,HPO,phenotype,PHENOTYPE_1845
1846,1846,1846,1846,1846,1846,1846,1846,31196,Thin myocardium compact layer,HPO,phenotype,PHENOTYPE_1846
1847,1847,1847,1847,1847,1847,1847,1847,30561,Best corrected visual acuity 0.8 LogMAR,HPO,phenotype,PHENOTYPE_1847
1848,1848,1848,1848,1848,1848,1848,1848,32820,Neonatal multifocal clonic seizure,HPO,phenotype,PHENOTYPE_1848
1849,1849,1849,1849,1849,1849,1849,1849,2991,Abnormal fibula morphology,HPO,phenotype,PHENOTYPE_1849
1850,1850,1850,1850,1850,1850,1850,1850,1019,Erythroderma,HPO,phenotype,PHENOTYPE_1850
1851,1851,1851,1851,1851,1851,1851,1851,31663,Paradoxical splitting of the second heart sound,HPO,phenotype,PHENOTYPE_1851
1852,1852,1852,1852,1852,1852,1852,1852,12456,Medial arterial calcification,HPO,phenotype,PHENOTYPE_1852
1853,1853,1853,1853,1853,1853,1853,1853,4425,Flat forehead,HPO,phenotype,PHENOTYPE_1853
1854,1854,1854,1854,1854,1854,1854,1854,6000195,Elevated mitochondrial citrate synthase activity,HPO,phenotype,PHENOTYPE_1854
1855,1855,1855,1855,1855,1855,1855,1855,10311,Aplasia/Hypoplasia of the breasts,HPO,phenotype,PHENOTYPE_1855
1856,1856,1856,1856,1856,1856,1856,1856,3707,Calf muscle pseudohypertrophy,HPO,phenotype,PHENOTYPE_1856
1857,1857,1857,1857,1857,1857,1857,1857,1262,Excessive daytime somnolence,HPO,phenotype,PHENOTYPE_1857
1858,1858,1858,1858,1858,1858,1858,1858,8720,Primary testicular failure,HPO,phenotype,PHENOTYPE_1858
1859,1859,1859,1859,1859,1859,1859,1859,11269,Bifid tragus,HPO,phenotype,PHENOTYPE_1859
1860,1860,1860,1860,1860,1860,1860,1860,32006,Lip tremor,HPO,phenotype,PHENOTYPE_1860
1861,1861,1861,1861,1861,1861,1861,1861,34932,Decreased circulating acid maltase activity,HPO,phenotype,PHENOTYPE_1861
1862,1862,1862,1862,1862,1862,1862,1862,12686,Increased pineal volume,HPO,phenotype,PHENOTYPE_1862
1863,1863,1863,1863,1863,1863,1863,1863,3564,Folate-dependent fragile site at Xq28,HPO,phenotype,PHENOTYPE_1863
1864,1864,1864,1864,1864,1864,1864,1864,6000316,Spastic monoplegia,HPO,phenotype,PHENOTYPE_1864
1865,1865,1865,1865,1865,1865,1865,1865,32391,Subcortical heterotopia,HPO,phenotype,PHENOTYPE_1865
1866,1866,1866,1866,1866,1866,1866,1866,11170,Generalized myoclonic-atonic seizure,HPO,phenotype,PHENOTYPE_1866
1867,1867,1867,1867,1867,1867,1867,1867,10380,Abnormality of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_1867
1868,1868,1868,1868,1868,1868,1868,1868,7530,Punctate palmoplantar hyperkeratosis,HPO,phenotype,PHENOTYPE_1868
1869,1869,1869,1869,1869,1869,1869,1869,3782,Eunuchoid habitus,HPO,phenotype,PHENOTYPE_1869
1870,1870,1870,1870,1870,1870,1870,1870,30748,Grade I preterm intraventricular hemorrhage,HPO,phenotype,PHENOTYPE_1870
1871,1871,1871,1871,1871,1871,1871,1871,25612,Corneal astigmatism,HPO,phenotype,PHENOTYPE_1871
1872,1872,1872,1872,1872,1872,1872,1872,5968,Temperature instability,HPO,phenotype,PHENOTYPE_1872
1873,1873,1873,1873,1873,1873,1873,1873,5288,Abnormal nostril morphology,HPO,phenotype,PHENOTYPE_1873
1874,1874,1874,1874,1874,1874,1874,1874,25203,Caput medusae,HPO,phenotype,PHENOTYPE_1874
1875,1875,1875,1875,1875,1875,1875,1875,10781,Skin dimple,HPO,phenotype,PHENOTYPE_1875
1876,1876,1876,1876,1876,1876,1876,1876,5200341,Addictive cannabis use,HPO,phenotype,PHENOTYPE_1876
1877,1877,1877,1877,1877,1877,1877,1877,1351,Jerk-locked premyoclonus spikes,HPO,phenotype,PHENOTYPE_1877
1878,1878,1878,1878,1878,1878,1878,1878,11768,Parathyroid dysgenesis,HPO,phenotype,PHENOTYPE_1878
1879,1879,1879,1879,1879,1879,1879,1879,11931,Abnormal cerebellar peduncle morphology,HPO,phenotype,PHENOTYPE_1879
1880,1880,1880,1880,1880,1880,1880,1880,6643,Fused sternal ossification centers,HPO,phenotype,PHENOTYPE_1880
1881,1881,1881,1881,1881,1881,1881,1881,10417,Osteolytic defects of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_1881
1882,1882,1882,1882,1882,1882,1882,1882,32863,Typical absence status epilepticus,HPO,phenotype,PHENOTYPE_1882
1883,1883,1883,1883,1883,1883,1883,1883,500219,Abnormal CSF tyrosine concentration,HPO,phenotype,PHENOTYPE_1883
1884,1884,1884,1884,1884,1884,1884,1884,12841,Retinal vascular tortuosity,HPO,phenotype,PHENOTYPE_1884
1885,1885,1885,1885,1885,1885,1885,1885,7601,Midline facial capillary hemangioma,HPO,phenotype,PHENOTYPE_1885
1886,1886,1886,1886,1886,1886,1886,1886,6937,Impaired distal tactile sensation,HPO,phenotype,PHENOTYPE_1886
1887,1887,1887,1887,1887,1887,1887,1887,1812,Hyperconvex fingernails,HPO,phenotype,PHENOTYPE_1887
1888,1888,1888,1888,1888,1888,1888,1888,33052,Non-epileptic seizure,HPO,phenotype,PHENOTYPE_1888
1889,1889,1889,1889,1889,1889,1889,1889,10939,Abnormal nasal bone morphology,HPO,phenotype,PHENOTYPE_1889
1890,1890,1890,1890,1890,1890,1890,1890,11580,Short chordae tendineae of the mitral valve,HPO,phenotype,PHENOTYPE_1890
1891,1891,1891,1891,1891,1891,1891,1891,31353,Otitis media with effusion,HPO,phenotype,PHENOTYPE_1891
1892,1892,1892,1892,1892,1892,1892,1892,5864,Pseudoarthrosis,HPO,phenotype,PHENOTYPE_1892
1893,1893,1893,1893,1893,1893,1893,1893,543,Optic disc pallor,HPO,phenotype,PHENOTYPE_1893
1894,1894,1894,1894,1894,1894,1894,1894,8596,Postlingual sensorineural hearing impairment,HPO,phenotype,PHENOTYPE_1894
1895,1895,1895,1895,1895,1895,1895,1895,34178,Increased circulating interleukin 17A concentration,HPO,phenotype,PHENOTYPE_1895
1896,1896,1896,1896,1896,1896,1896,1896,6086,Thin metacarpal cortices,HPO,phenotype,PHENOTYPE_1896
1897,1897,1897,1897,1897,1897,1897,1897,5200357,Prolonged N1 sleep,HPO,phenotype,PHENOTYPE_1897
1898,1898,1898,1898,1898,1898,1898,1898,7263,Spinocerebellar atrophy,HPO,phenotype,PHENOTYPE_1898
1899,1899,1899,1899,1899,1899,1899,1899,6852,Episodic generalized hypotonia,HPO,phenotype,PHENOTYPE_1899
1900,1900,1900,1900,1900,1900,1900,1900,100513,Decreased circulating vitamin E concentration,HPO,phenotype,PHENOTYPE_1900
1901,1901,1901,1901,1901,1901,1901,1901,100083,Ivory epiphyses of the 5th toe,HPO,phenotype,PHENOTYPE_1901
1902,1902,1902,1902,1902,1902,1902,1902,7603,Freckles in sun-exposed areas,HPO,phenotype,PHENOTYPE_1902
1903,1903,1903,1903,1903,1903,1903,1903,11982,Black pigment gallstones,HPO,phenotype,PHENOTYPE_1903
1904,1904,1904,1904,1904,1904,1904,1904,12274,Autosomal dominant inheritance with paternal imprinting,HPO,phenotype,PHENOTYPE_1904
1905,1905,1905,1905,1905,1905,1905,1905,5200006,Disjointed sentences,HPO,phenotype,PHENOTYPE_1905
1906,1906,1906,1906,1906,1906,1906,1906,6000880,Anti-neurochondrin antibody positivity,HPO,phenotype,PHENOTYPE_1906
1907,1907,1907,1907,1907,1907,1907,1907,3221,Chromosomal breakage induced by crosslinking agents,HPO,phenotype,PHENOTYPE_1907
1908,1908,1908,1908,1908,1908,1908,1908,11335,Frontal hirsutism,HPO,phenotype,PHENOTYPE_1908
1909,1909,1909,1909,1909,1909,1909,1909,4000148,Hepatic artery hyperplasia,HPO,phenotype,PHENOTYPE_1909
1910,1910,1910,1910,1910,1910,1910,1910,2198,Dilated fourth ventricle,HPO,phenotype,PHENOTYPE_1910
1911,1911,1911,1911,1911,1911,1911,1911,5878,Enlarged sagittal diameter of the cervical canal,HPO,phenotype,PHENOTYPE_1911
1912,1912,1912,1912,1912,1912,1912,1912,2253,Colonic diverticula,HPO,phenotype,PHENOTYPE_1912
1913,1913,1913,1913,1913,1913,1913,1913,6978,Dysmyelinating leukodystrophy,HPO,phenotype,PHENOTYPE_1913
1914,1914,1914,1914,1914,1914,1914,1914,2446,Astrocytosis,HPO,phenotype,PHENOTYPE_1914
1915,1915,1915,1915,1915,1915,1915,1915,3409,Distal sensory impairment of all modalities,HPO,phenotype,PHENOTYPE_1915
1916,1916,1916,1916,1916,1916,1916,1916,6000437,Reduced circulating stearoylcarnitine concentration,HPO,phenotype,PHENOTYPE_1916
1917,1917,1917,1917,1917,1917,1917,1917,45088,Clinical relevance,HPO,phenotype,PHENOTYPE_1917
1918,1918,1918,1918,1918,1918,1918,1918,1279,Syncope,HPO,phenotype,PHENOTYPE_1918
1919,1919,1919,1919,1919,1919,1919,1919,100399,Duplication of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_1919
1920,1920,1920,1920,1920,1920,1920,1920,8080,Hallux varus,HPO,phenotype,PHENOTYPE_1920
1921,1921,1921,1921,1921,1921,1921,1921,34056,Increased fecal calprotectin level,HPO,phenotype,PHENOTYPE_1921
1922,1922,1922,1922,1922,1922,1922,1922,40097,Neoplasm of the ceruminal gland,HPO,phenotype,PHENOTYPE_1922
1923,1923,1923,1923,1923,1923,1923,1923,5415,Decreased proportion of CD8-positive T cells,HPO,phenotype,PHENOTYPE_1923
1924,1924,1924,1924,1924,1924,1924,1924,7007,Cavitation of the basal ganglia,HPO,phenotype,PHENOTYPE_1924
1925,1925,1925,1925,1925,1925,1925,1925,100091,Abnormality of the epiphysis of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_1925
1926,1926,1926,1926,1926,1926,1926,1926,360,Tinnitus,HPO,phenotype,PHENOTYPE_1926
1927,1927,1927,1927,1927,1927,1927,1927,410065,Increased level of hippuric acid in blood,HPO,phenotype,PHENOTYPE_1927
1928,1928,1928,1928,1928,1928,1928,1928,5000013,Anti-GFAP antibody,HPO,phenotype,PHENOTYPE_1928
1929,1929,1929,1929,1929,1929,1929,1929,30817,Beaked nails,HPO,phenotype,PHENOTYPE_1929
1930,1930,1930,1930,1930,1930,1930,1930,8936,Axial hypotonia,HPO,phenotype,PHENOTYPE_1930
1931,1931,1931,1931,1931,1931,1931,1931,34337,Claw hand deformity,HPO,phenotype,PHENOTYPE_1931
1932,1932,1932,1932,1932,1932,1932,1932,34846,Fetal fluorouracil exposure,HPO,phenotype,PHENOTYPE_1932
1933,1933,1933,1933,1933,1933,1933,1933,3308,Cervical subluxation,HPO,phenotype,PHENOTYPE_1933
1934,1934,1934,1934,1934,1934,1934,1934,31192,Abnormal morphology of left ventricular trabeculae,HPO,phenotype,PHENOTYPE_1934
1935,1935,1935,1935,1935,1935,1935,1935,20265,Non-polarized mantle zones,HPO,phenotype,PHENOTYPE_1935
1936,1936,1936,1936,1936,1936,1936,1936,32099,Perioral radial furrowing,HPO,phenotype,PHENOTYPE_1936
1937,1937,1937,1937,1937,1937,1937,1937,25097,Eyelid myoclonus,HPO,phenotype,PHENOTYPE_1937
1938,1938,1938,1938,1938,1938,1938,1938,200026,Ocular pain,HPO,phenotype,PHENOTYPE_1938
1939,1939,1939,1939,1939,1939,1939,1939,12443,Abnormal brain morphology,HPO,phenotype,PHENOTYPE_1939
1940,1940,1940,1940,1940,1940,1940,1940,10629,Abnormal morphology of the cortex of the humerus,HPO,phenotype,PHENOTYPE_1940
1941,1941,1941,1941,1941,1941,1941,1941,9139,Osteolysis involving bones of the lower limbs,HPO,phenotype,PHENOTYPE_1941
1942,1942,1942,1942,1942,1942,1942,1942,9166,Fragmentation of the epiphysis of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_1942
1943,1943,1943,1943,1943,1943,1943,1943,34133,Anti-GM3 antibody positivity,HPO,phenotype,PHENOTYPE_1943
1944,1944,1944,1944,1944,1944,1944,1944,3724,Shoulder girdle muscle atrophy,HPO,phenotype,PHENOTYPE_1944
1945,1945,1945,1945,1945,1945,1945,1945,6000084,Sunken fontanelle,HPO,phenotype,PHENOTYPE_1945
1946,1946,1946,1946,1946,1946,1946,1946,30915,Cerebellar edema,HPO,phenotype,PHENOTYPE_1946
1947,1947,1947,1947,1947,1947,1947,1947,100697,Neurofibrosarcoma,HPO,phenotype,PHENOTYPE_1947
1948,1948,1948,1948,1948,1948,1948,1948,6000811,Thickened cortex of the radius,HPO,phenotype,PHENOTYPE_1948
1949,1949,1949,1949,1949,1949,1949,1949,1081,Cholelithiasis,HPO,phenotype,PHENOTYPE_1949
1950,1950,1950,1950,1950,1950,1950,1950,2009,Potter facies,HPO,phenotype,PHENOTYPE_1950
1951,1951,1951,1951,1951,1951,1951,1951,30298,Metaphyseal chondromatosis of humerus,HPO,phenotype,PHENOTYPE_1951
1952,1952,1952,1952,1952,1952,1952,1952,2857,Genu valgum,HPO,phenotype,PHENOTYPE_1952
1953,1953,1953,1953,1953,1953,1953,1953,31444,Dilatation of the tricuspid annulus,HPO,phenotype,PHENOTYPE_1953
1954,1954,1954,1954,1954,1954,1954,1954,6000003,History of mastectomy,HPO,phenotype,PHENOTYPE_1954
1955,1955,1955,1955,1955,1955,1955,1955,6961,Jerky head movements,HPO,phenotype,PHENOTYPE_1955
1956,1956,1956,1956,1956,1956,1956,1956,30846,Abnormality of venous physiology,HPO,phenotype,PHENOTYPE_1956
1957,1957,1957,1957,1957,1957,1957,1957,32145,Sural nerve atrophy,HPO,phenotype,PHENOTYPE_1957
1958,1958,1958,1958,1958,1958,1958,1958,7703,Abnormality of retinal pigmentation,HPO,phenotype,PHENOTYPE_1958
1959,1959,1959,1959,1959,1959,1959,1959,5598,Facial telangiectasia in butterfly midface distribution,HPO,phenotype,PHENOTYPE_1959
1960,1960,1960,1960,1960,1960,1960,1960,100103,Enlarged epiphysis of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_1960
1961,1961,1961,1961,1961,1961,1961,1961,6000388,Anti-erythrocyte autoantibody positivity,HPO,phenotype,PHENOTYPE_1961
1962,1962,1962,1962,1962,1962,1962,1962,33066,Severe albuminuria,HPO,phenotype,PHENOTYPE_1962
1963,1963,1963,1963,1963,1963,1963,1963,12410,Pure red cell aplasia,HPO,phenotype,PHENOTYPE_1963
1964,1964,1964,1964,1964,1964,1964,1964,30082,Abnormal drinking behavior,HPO,phenotype,PHENOTYPE_1964
1965,1965,1965,1965,1965,1965,1965,1965,34657,Elevated urine malonic acid level,HPO,phenotype,PHENOTYPE_1965
1966,1966,1966,1966,1966,1966,1966,1966,7473,Crusting erythematous dermatitis,HPO,phenotype,PHENOTYPE_1966
1967,1967,1967,1967,1967,1967,1967,1967,30717,Meconium peritonitis,HPO,phenotype,PHENOTYPE_1967
1968,1968,1968,1968,1968,1968,1968,1968,33608,Pulmonary nodule,HPO,phenotype,PHENOTYPE_1968
1969,1969,1969,1969,1969,1969,1969,1969,3316,Butterfly vertebrae,HPO,phenotype,PHENOTYPE_1969
1970,1970,1970,1970,1970,1970,1970,1970,9327,Ivory epiphysis of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_1970
1971,1971,1971,1971,1971,1971,1971,1971,100339,Abnormality of the os naviculare pedis,HPO,phenotype,PHENOTYPE_1971
1972,1972,1972,1972,1972,1972,1972,1972,100553,Hemihypertrophy of lower limb,HPO,phenotype,PHENOTYPE_1972
1973,1973,1973,1973,1973,1973,1973,1973,3646,Bicarbonaturia,HPO,phenotype,PHENOTYPE_1973
1974,1974,1974,1974,1974,1974,1974,1974,30312,Obliteration of the calvarial diploe,HPO,phenotype,PHENOTYPE_1974
1975,1975,1975,1975,1975,1975,1975,1975,9796,Branchial cyst,HPO,phenotype,PHENOTYPE_1975
1976,1976,1976,1976,1976,1976,1976,1976,100205,Enlarged epiphysis of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_1976
1977,1977,1977,1977,1977,1977,1977,1977,7627,Mandibular condyle aplasia,HPO,phenotype,PHENOTYPE_1977
1978,1978,1978,1978,1978,1978,1978,1978,20207,Reflex seizure,HPO,phenotype,PHENOTYPE_1978
1979,1979,1979,1979,1979,1979,1979,1979,10881,Abnormality of the umbilical cord,HPO,phenotype,PHENOTYPE_1979
1980,1980,1980,1980,1980,1980,1980,1980,6000808,Periumbilical depression,HPO,phenotype,PHENOTYPE_1980
1981,1981,1981,1981,1981,1981,1981,1981,9388,Ivory epiphyses of the 5th finger,HPO,phenotype,PHENOTYPE_1981
1982,1982,1982,1982,1982,1982,1982,1982,7340,Lower limb muscle weakness,HPO,phenotype,PHENOTYPE_1982
1983,1983,1983,1983,1983,1983,1983,1983,31947,Tongue tremor,HPO,phenotype,PHENOTYPE_1983
1984,1984,1984,1984,1984,1984,1984,1984,30264,Webbed penis,HPO,phenotype,PHENOTYPE_1984
1985,1985,1985,1985,1985,1985,1985,1985,32618,Renal necrosis,HPO,phenotype,PHENOTYPE_1985
1986,1986,1986,1986,1986,1986,1986,1986,6000115,Decreased urine creatinine level,HPO,phenotype,PHENOTYPE_1986
1987,1987,1987,1987,1987,1987,1987,1987,11262,Crimped helix,HPO,phenotype,PHENOTYPE_1987
1988,1988,1988,1988,1988,1988,1988,1988,4248,Abnormal lunate bone morphology,HPO,phenotype,PHENOTYPE_1988
1989,1989,1989,1989,1989,1989,1989,1989,278,Retrognathia,HPO,phenotype,PHENOTYPE_1989
1990,1990,1990,1990,1990,1990,1990,1990,10853,EEG with periodic lateralized epileptiform discharges,HPO,phenotype,PHENOTYPE_1990
1991,1991,1991,1991,1991,1991,1991,1991,30579,Pinhole visual acuity 1.1 LogMAR,HPO,phenotype,PHENOTYPE_1991
1992,1992,1992,1992,1992,1992,1992,1992,33020,Female reproductive system neoplasm,HPO,phenotype,PHENOTYPE_1992
1993,1993,1993,1993,1993,1993,1993,1993,11443,Abnormality of coordination,HPO,phenotype,PHENOTYPE_1993
1994,1994,1994,1994,1994,1994,1994,1994,25748,Restricted tongue movement,HPO,phenotype,PHENOTYPE_1994
1995,1995,1995,1995,1995,1995,1995,1995,33662,Air bronchogram,HPO,phenotype,PHENOTYPE_1995
1996,1996,1996,1996,1996,1996,1996,1996,32519,Increased Burr cell count,HPO,phenotype,PHENOTYPE_1996
1997,1997,1997,1997,1997,1997,1997,1997,6000791,Distortion of the anterior part of the interhemispheric fissure,HPO,phenotype,PHENOTYPE_1997
1998,1998,1998,1998,1998,1998,1998,1998,4291,Stippled calcification of hand bones,HPO,phenotype,PHENOTYPE_1998
1999,1999,1999,1999,1999,1999,1999,1999,6865,Sensorimotor polyneuropathy affecting arms more than legs,HPO,phenotype,PHENOTYPE_1999
2000,2000,2000,2000,2000,2000,2000,2000,73,Ureteral duplication,HPO,phenotype,PHENOTYPE_2000
2001,2001,2001,2001,2001,2001,2001,2001,297,Facial hypotonia,HPO,phenotype,PHENOTYPE_2001
2002,2002,2002,2002,2002,2002,2002,2002,9794,Branchial anomaly,HPO,phenotype,PHENOTYPE_2002
2003,2003,2003,2003,2003,2003,2003,2003,32097,Hypermanganesemia,HPO,phenotype,PHENOTYPE_2003
2004,2004,2004,2004,2004,2004,2004,2004,5325,Extension of hair growth on temples to lateral eyebrow,HPO,phenotype,PHENOTYPE_2004
2005,2005,2005,2005,2005,2005,2005,2005,30830,Crackles,HPO,phenotype,PHENOTYPE_2005
2006,2006,2006,2006,2006,2006,2006,2006,34176,Abnormal circulating interleukin 17A concentration,HPO,phenotype,PHENOTYPE_2006
2007,2007,2007,2007,2007,2007,2007,2007,4997,Multicentric ossification of proximal humeral epiphyses,HPO,phenotype,PHENOTYPE_2007
2008,2008,2008,2008,2008,2008,2008,2008,6000194,History of adrenalectomy,HPO,phenotype,PHENOTYPE_2008
2009,2009,2009,2009,2009,2009,2009,2009,6000920,Craniocervical junction constriction,HPO,phenotype,PHENOTYPE_2009
2010,2010,2010,2010,2010,2010,2010,2010,200083,Severe limb shortening,HPO,phenotype,PHENOTYPE_2010
2011,2011,2011,2011,2011,2011,2011,2011,100562,Diplomyelia,HPO,phenotype,PHENOTYPE_2011
2012,2012,2012,2012,2012,2012,2012,2012,9938,Sunken cheeks,HPO,phenotype,PHENOTYPE_2012
2013,2013,2013,2013,2013,2013,2013,2013,25733,Streak gonad,HPO,phenotype,PHENOTYPE_2013
2014,2014,2014,2014,2014,2014,2014,2014,9473,Joint contracture of the hand,HPO,phenotype,PHENOTYPE_2014
2015,2015,2015,2015,2015,2015,2015,2015,10270,Cone-shaped epiphyses of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_2015
2016,2016,2016,2016,2016,2016,2016,2016,34550,Small intestinal lymphoplasmacytic infiltrate,HPO,phenotype,PHENOTYPE_2016
2017,2017,2017,2017,2017,2017,2017,2017,500220,Increased CSF tyrosine concentration,HPO,phenotype,PHENOTYPE_2017
2018,2018,2018,2018,2018,2018,2018,2018,8829,Delayed femoral head ossification,HPO,phenotype,PHENOTYPE_2018
2019,2019,2019,2019,2019,2019,2019,2019,3000024,Abnormal facial artery morphology,HPO,phenotype,PHENOTYPE_2019
2020,2020,2020,2020,2020,2020,2020,2020,41149,Fractured navicular bone of pes,HPO,phenotype,PHENOTYPE_2020
2021,2021,2021,2021,2021,2021,2021,2021,31925,Rosette,HPO,phenotype,PHENOTYPE_2021
2022,2022,2022,2022,2022,2022,2022,2022,2367,Visual hallucination,HPO,phenotype,PHENOTYPE_2022
2023,2023,2023,2023,2023,2023,2023,2023,100168,Fragmented epiphyses,HPO,phenotype,PHENOTYPE_2023
2024,2024,2024,2024,2024,2024,2024,2024,9593,Peripheral schwannoma,HPO,phenotype,PHENOTYPE_2024
2025,2025,2025,2025,2025,2025,2025,2025,34211,Fetal cerebral parenchymal hemorrhage,HPO,phenotype,PHENOTYPE_2025
2026,2026,2026,2026,2026,2026,2026,2026,6000160,Splenic lipid-laden macrophage infiltration,HPO,phenotype,PHENOTYPE_2026
2027,2027,2027,2027,2027,2027,2027,2027,9425,Patchy sclerosis of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_2027
2028,2028,2028,2028,2028,2028,2028,2028,10049,Short metacarpal,HPO,phenotype,PHENOTYPE_2028
2029,2029,2029,2029,2029,2029,2029,2029,12359,Abnormal fucosylation of O-linked protein glycosylation,HPO,phenotype,PHENOTYPE_2029
2030,2030,2030,2030,2030,2030,2030,2030,33010,Increased fecal coproporphyrin 3,HPO,phenotype,PHENOTYPE_2030
2031,2031,2031,2031,2031,2031,2031,2031,6813,Focal hemiclonic seizure,HPO,phenotype,PHENOTYPE_2031
2032,2032,2032,2032,2032,2032,2032,2032,1272,Cerebellar atrophy,HPO,phenotype,PHENOTYPE_2032
2033,2033,2033,2033,2033,2033,2033,2033,32624,Intratubular bilirubin casts,HPO,phenotype,PHENOTYPE_2033
2034,2034,2034,2034,2034,2034,2034,2034,12317,Sacroiliac arthritis,HPO,phenotype,PHENOTYPE_2034
2035,2035,2035,2035,2035,2035,2035,2035,12198,Juvenile colonic polyposis,HPO,phenotype,PHENOTYPE_2035
2036,2036,2036,2036,2036,2036,2036,2036,31218,Inappropriate antidiuretic hormone secretion,HPO,phenotype,PHENOTYPE_2036
2037,2037,2037,2037,2037,2037,2037,2037,8306,Abnormal iron deposition in mitochondria,HPO,phenotype,PHENOTYPE_2037
2038,2038,2038,2038,2038,2038,2038,2038,40099,Abnormality of the round window,HPO,phenotype,PHENOTYPE_2038
2039,2039,2039,2039,2039,2039,2039,2039,32477,Elevated circulating vitamin B6 concentration,HPO,phenotype,PHENOTYPE_2039
2040,2040,2040,2040,2040,2040,2040,2040,10046,Aplasia of the 5th metacarpal,HPO,phenotype,PHENOTYPE_2040
2041,2041,2041,2041,2041,2041,2041,2041,31497,Mucinous colorectal carcinoma,HPO,phenotype,PHENOTYPE_2041
2042,2042,2042,2042,2042,2042,2042,2042,558,Rieger anomaly,HPO,phenotype,PHENOTYPE_2042
2043,2043,2043,2043,2043,2043,2043,2043,25140,Decreased serum estrone,HPO,phenotype,PHENOTYPE_2043
2044,2044,2044,2044,2044,2044,2044,2044,30036,Isothenuria,HPO,phenotype,PHENOTYPE_2044
2045,2045,2045,2045,2045,2045,2045,2045,7164,Slowed slurred speech,HPO,phenotype,PHENOTYPE_2045
2046,2046,2046,2046,2046,2046,2046,2046,32694,Focal cognitive seizure with dyslexia/alexia,HPO,phenotype,PHENOTYPE_2046
2047,2047,2047,2047,2047,2047,2047,2047,4375,Neoplasm of the nervous system,HPO,phenotype,PHENOTYPE_2047
2048,2048,2048,2048,2048,2048,2048,2048,33694,Tactile hallucination,HPO,phenotype,PHENOTYPE_2048
2049,2049,2049,2049,2049,2049,2049,2049,9487,Ulnar deviation of the hand,HPO,phenotype,PHENOTYPE_2049
2050,2050,2050,2050,2050,2050,2050,2050,12354,Increased fucosylation of N-linked protein glycosylation,HPO,phenotype,PHENOTYPE_2050
2051,2051,2051,2051,2051,2051,2051,2051,2682,Broad skull,HPO,phenotype,PHENOTYPE_2051
2052,2052,2052,2052,2052,2052,2052,2052,25037,Hypothalamic gliosis,HPO,phenotype,PHENOTYPE_2052
2053,2053,2053,2053,2053,2053,2053,2053,30403,Spontaneous platelet aggregation,HPO,phenotype,PHENOTYPE_2053
2054,2054,2054,2054,2054,2054,2054,2054,9747,Lumbosacral hirsutism,HPO,phenotype,PHENOTYPE_2054
2055,2055,2055,2055,2055,2055,2055,2055,430099,Cyclin D1 expression,HPO,phenotype,PHENOTYPE_2055
2056,2056,2056,2056,2056,2056,2056,2056,25646,Bilateral polymicrogyria,HPO,phenotype,PHENOTYPE_2056
2057,2057,2057,2057,2057,2057,2057,2057,41172,Fractured fused sacrum,HPO,phenotype,PHENOTYPE_2057
2058,2058,2058,2058,2058,2058,2058,2058,3103,Abnormal cortical bone morphology,HPO,phenotype,PHENOTYPE_2058
2059,2059,2059,2059,2059,2059,2059,2059,11668,Bilateral superior vena cava with no bridging vein,HPO,phenotype,PHENOTYPE_2059
2060,2060,2060,2060,2060,2060,2060,2060,907,Anterior rib cupping,HPO,phenotype,PHENOTYPE_2060
2061,2061,2061,2061,2061,2061,2061,2061,12330,Pyelonephritis,HPO,phenotype,PHENOTYPE_2061
2062,2062,2062,2062,2062,2062,2062,2062,12842,Skin appendage neoplasm,HPO,phenotype,PHENOTYPE_2062
2063,2063,2063,2063,2063,2063,2063,2063,30225,Accumulation of muscle fiber desmin,HPO,phenotype,PHENOTYPE_2063
2064,2064,2064,2064,2064,2064,2064,2064,4761,Post-angioplasty coronary artery restenosis,HPO,phenotype,PHENOTYPE_2064
2065,2065,2065,2065,2065,2065,2065,2065,9977,Duplication of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_2065
2066,2066,2066,2066,2066,2066,2066,2066,200072,Episodic quadriplegia,HPO,phenotype,PHENOTYPE_2066
2067,2067,2067,2067,2067,2067,2067,2067,9789,Perianal abscess,HPO,phenotype,PHENOTYPE_2067
2068,2068,2068,2068,2068,2068,2068,2068,10927,Abnormal blood inorganic cation concentration,HPO,phenotype,PHENOTYPE_2068
2069,2069,2069,2069,2069,2069,2069,2069,12117,Hyperalbuminemia,HPO,phenotype,PHENOTYPE_2069
2070,2070,2070,2070,2070,2070,2070,2070,34055,Anti-side-chain cleavage enzyme antibody positivity,HPO,phenotype,PHENOTYPE_2070
2071,2071,2071,2071,2071,2071,2071,2071,31917,Digital ulcer,HPO,phenotype,PHENOTYPE_2071
2072,2072,2072,2072,2072,2072,2072,2072,34957,Reduced hepatic glycogen debrancher enzyme activity,HPO,phenotype,PHENOTYPE_2072
2073,2073,2073,2073,2073,2073,2073,2073,32281,Abnormal base excess,HPO,phenotype,PHENOTYPE_2073
2074,2074,2074,2074,2074,2074,2074,2074,32826,Focal neonatal sequential seizure,HPO,phenotype,PHENOTYPE_2074
2075,2075,2075,2075,2075,2075,2075,2075,3000048,Abnormal great auricular nerve morphology,HPO,phenotype,PHENOTYPE_2075
2076,2076,2076,2076,2076,2076,2076,2076,7971,Lamellar cataract,HPO,phenotype,PHENOTYPE_2076
2077,2077,2077,2077,2077,2077,2077,2077,33035,Abnormal Schwann cell morphology,HPO,phenotype,PHENOTYPE_2077
2078,2078,2078,2078,2078,2078,2078,2078,8419,Intervertebral disk degeneration,HPO,phenotype,PHENOTYPE_2078
2079,2079,2079,2079,2079,2079,2079,2079,32330,Increased urinary 11-deoxycorticosterone level,HPO,phenotype,PHENOTYPE_2079
2080,2080,2080,2080,2080,2080,2080,2080,12571,Ureter fissus,HPO,phenotype,PHENOTYPE_2080
2081,2081,2081,2081,2081,2081,2081,2081,8226,Androgen insufficiency,HPO,phenotype,PHENOTYPE_2081
2082,2082,2082,2082,2082,2082,2082,2082,20102,Pneumocystis jirovecii pneumonia,HPO,phenotype,PHENOTYPE_2082
2083,2083,2083,2083,2083,2083,2083,2083,8647,Pubertal developmental failure in females,HPO,phenotype,PHENOTYPE_2083
2084,2084,2084,2084,2084,2084,2084,2084,1608,Abnormality of the voice,HPO,phenotype,PHENOTYPE_2084
2085,2085,2085,2085,2085,2085,2085,2085,12427,Increased femoral anteversion,HPO,phenotype,PHENOTYPE_2085
2086,2086,2086,2086,2086,2086,2086,2086,759,Abnormal peripheral nervous system morphology,HPO,phenotype,PHENOTYPE_2086
2087,2087,2087,2087,2087,2087,2087,2087,5513,Increased megakaryocyte count,HPO,phenotype,PHENOTYPE_2087
2088,2088,2088,2088,2088,2088,2088,2088,4000195,Abnormal enzyme activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_2088
2089,2089,2089,2089,2089,2089,2089,2089,100266,Synostosis of carpals/tarsals,HPO,phenotype,PHENOTYPE_2089
2090,2090,2090,2090,2090,2090,2090,2090,2067,Bradykinesia,HPO,phenotype,PHENOTYPE_2090
2091,2091,2091,2091,2091,2091,2091,2091,10683,Low tissue non-specific alkaline phosphatase,HPO,phenotype,PHENOTYPE_2091
2092,2092,2092,2092,2092,2092,2092,2092,31755,Abnormal rectus muscle physiology,HPO,phenotype,PHENOTYPE_2092
2093,2093,2093,2093,2093,2093,2093,2093,3259,Elevated circulating creatinine concentration,HPO,phenotype,PHENOTYPE_2093
2094,2094,2094,2094,2094,2094,2094,2094,32004,Pruritus vulvae,HPO,phenotype,PHENOTYPE_2094
2095,2095,2095,2095,2095,2095,2095,2095,10378,Triangular shaped phalanges of the 4th toe,HPO,phenotype,PHENOTYPE_2095
2096,2096,2096,2096,2096,2096,2096,2096,1977,Abnormal thrombosis,HPO,phenotype,PHENOTYPE_2096
2097,2097,2097,2097,2097,2097,2097,2097,430037,Abnormal alcohol consumption,HPO,phenotype,PHENOTYPE_2097
2098,2098,2098,2098,2098,2098,2098,2098,11173,Focal behavior arrest seizure,HPO,phenotype,PHENOTYPE_2098
2099,2099,2099,2099,2099,2099,2099,2099,410282,Abnormal circulating amylase concentration,HPO,phenotype,PHENOTYPE_2099
2100,2100,2100,2100,2100,2100,2100,2100,10906,Hyperhistidinemia,HPO,phenotype,PHENOTYPE_2100
2101,2101,2101,2101,2101,2101,2101,2101,31922,Renal artery duplication,HPO,phenotype,PHENOTYPE_2101
2102,2102,2102,2102,2102,2102,2102,2102,33263,Absent platelet dense granules,HPO,phenotype,PHENOTYPE_2102
2103,2103,2103,2103,2103,2103,2103,2103,1622,Premature birth,HPO,phenotype,PHENOTYPE_2103
2104,2104,2104,2104,2104,2104,2104,2104,30672,Asteroid hyalosis,HPO,phenotype,PHENOTYPE_2104
2105,2105,2105,2105,2105,2105,2105,2105,100367,Short phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_2105
2106,2106,2106,2106,2106,2106,2106,2106,9563,Distal/middle symphalangism of 2nd finger,HPO,phenotype,PHENOTYPE_2106
2107,2107,2107,2107,2107,2107,2107,2107,5242,Extrahepatic biliary duct atresia,HPO,phenotype,PHENOTYPE_2107
2108,2108,2108,2108,2108,2108,2108,2108,2914,Hyperchloriduria,HPO,phenotype,PHENOTYPE_2108
2109,2109,2109,2109,2109,2109,2109,2109,33178,Increased circulating interleukin 8 concentration,HPO,phenotype,PHENOTYPE_2109
2110,2110,2110,2110,2110,2110,2110,2110,8225,Thyroid follicular hyperplasia,HPO,phenotype,PHENOTYPE_2110
2111,2111,2111,2111,2111,2111,2111,2111,33477,Abnormal circulating lipoprotein lipase concentration,HPO,phenotype,PHENOTYPE_2111
2112,2112,2112,2112,2112,2112,2112,2112,11325,Pansynostosis,HPO,phenotype,PHENOTYPE_2112
2113,2113,2113,2113,2113,2113,2113,2113,4222,Cone-shaped epiphysis of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_2113
2114,2114,2114,2114,2114,2114,2114,2114,2293,Alopecia of scalp,HPO,phenotype,PHENOTYPE_2114
2115,2115,2115,2115,2115,2115,2115,2115,40270,Impaired glucose tolerance,HPO,phenotype,PHENOTYPE_2115
2116,2116,2116,2116,2116,2116,2116,2116,11278,Intrapulmonary lobar sequestration,HPO,phenotype,PHENOTYPE_2116
2117,2117,2117,2117,2117,2117,2117,2117,100509,Abnormality of vitamin C metabolism,HPO,phenotype,PHENOTYPE_2117
2118,2118,2118,2118,2118,2118,2118,2118,100257,Ectrodactyly,HPO,phenotype,PHENOTYPE_2118
2119,2119,2119,2119,2119,2119,2119,2119,32558,Absent sperm flagella,HPO,phenotype,PHENOTYPE_2119
2120,2120,2120,2120,2120,2120,2120,2120,11354,Generalized abnormality of skin,HPO,phenotype,PHENOTYPE_2120
2121,2121,2121,2121,2121,2121,2121,2121,32301,Genital warts,HPO,phenotype,PHENOTYPE_2121
2122,2122,2122,2122,2122,2122,2122,2122,6243,Phalangeal dislocation,HPO,phenotype,PHENOTYPE_2122
2123,2123,2123,2123,2123,2123,2123,2123,33992,Chronotropic incompetence,HPO,phenotype,PHENOTYPE_2123
2124,2124,2124,2124,2124,2124,2124,2124,1743,Abnormality of the spleen,HPO,phenotype,PHENOTYPE_2124
2125,2125,2125,2125,2125,2125,2125,2125,10806,U-Shaped upper lip vermilion,HPO,phenotype,PHENOTYPE_2125
2126,2126,2126,2126,2126,2126,2126,2126,1384,Abnormal hip joint morphology,HPO,phenotype,PHENOTYPE_2126
2127,2127,2127,2127,2127,2127,2127,2127,3370,Flat capital femoral epiphysis,HPO,phenotype,PHENOTYPE_2127
2128,2128,2128,2128,2128,2128,2128,2128,31987,Diminished ability to concentrate,HPO,phenotype,PHENOTYPE_2128
2129,2129,2129,2129,2129,2129,2129,2129,20239,Increased lymph-node epithelioid histiocyte count,HPO,phenotype,PHENOTYPE_2129
2130,2130,2130,2130,2130,2130,2130,2130,31891,Decreased eosinophil count,HPO,phenotype,PHENOTYPE_2130
2131,2131,2131,2131,2131,2131,2131,2131,32668,Myoclonic status epilepticus without coma,HPO,phenotype,PHENOTYPE_2131
2132,2132,2132,2132,2132,2132,2132,2132,430055,Anti-trypanosoma cruzi antibody positivity,HPO,phenotype,PHENOTYPE_2132
2133,2133,2133,2133,2133,2133,2133,2133,8866,Failure to thrive secondary to recurrent infections,HPO,phenotype,PHENOTYPE_2133
2134,2134,2134,2134,2134,2134,2134,2134,100586,Sterile pyuria,HPO,phenotype,PHENOTYPE_2134
2135,2135,2135,2135,2135,2135,2135,2135,31110,Twin-to-twin transfusion,HPO,phenotype,PHENOTYPE_2135
2136,2136,2136,2136,2136,2136,2136,2136,5524,Macrocytic hemolytic disease,HPO,phenotype,PHENOTYPE_2136
2137,2137,2137,2137,2137,2137,2137,2137,31152,Full-thickness macular hole,HPO,phenotype,PHENOTYPE_2137
2138,2138,2138,2138,2138,2138,2138,2138,33778,Leung cusp,HPO,phenotype,PHENOTYPE_2138
2139,2139,2139,2139,2139,2139,2139,2139,1181,Adducted thumb,HPO,phenotype,PHENOTYPE_2139
2140,2140,2140,2140,2140,2140,2140,2140,32349,Serinuria,HPO,phenotype,PHENOTYPE_2140
2141,2141,2141,2141,2141,2141,2141,2141,1922,Vacuolated lymphocytes,HPO,phenotype,PHENOTYPE_2141
2142,2142,2142,2142,2142,2142,2142,2142,2126,Polymicrogyria,HPO,phenotype,PHENOTYPE_2142
2143,2143,2143,2143,2143,2143,2143,2143,2651,Spondyloepimetaphyseal dysplasia,HPO,phenotype,PHENOTYPE_2143
2144,2144,2144,2144,2144,2144,2144,2144,30232,Increased sarcoplasmic glycogen,HPO,phenotype,PHENOTYPE_2144
2145,2145,2145,2145,2145,2145,2145,2145,40052,Abnormality of lower eyelashes,HPO,phenotype,PHENOTYPE_2145
2146,2146,2146,2146,2146,2146,2146,2146,25615,Abscess,HPO,phenotype,PHENOTYPE_2146
2147,2147,2147,2147,2147,2147,2147,2147,30293,Fibular metaphyseal irregularity,HPO,phenotype,PHENOTYPE_2147
2148,2148,2148,2148,2148,2148,2148,2148,4000012,Necrotizing ileitis,HPO,phenotype,PHENOTYPE_2148
2149,2149,2149,2149,2149,2149,2149,2149,430084,Anti-lymphocytic choriomeningitis antibody positivity,HPO,phenotype,PHENOTYPE_2149
2150,2150,2150,2150,2150,2150,2150,2150,11632,Partial right sided absence of pericardium,HPO,phenotype,PHENOTYPE_2150
2151,2151,2151,2151,2151,2151,2151,2151,100963,Hyperesthesia,HPO,phenotype,PHENOTYPE_2151
2152,2152,2152,2152,2152,2152,2152,2152,25005,Thickening of glomerular capillary wall,HPO,phenotype,PHENOTYPE_2152
2153,2153,2153,2153,2153,2153,2153,2153,40017,Protruding coccyx,HPO,phenotype,PHENOTYPE_2153
2154,2154,2154,2154,2154,2154,2154,2154,30108,Reduced muscle fiber gamma sarcoglycan,HPO,phenotype,PHENOTYPE_2154
2155,2155,2155,2155,2155,2155,2155,2155,25181,Abdominal aseptic abscess,HPO,phenotype,PHENOTYPE_2155
2156,2156,2156,2156,2156,2156,2156,2156,2616,Aortic root aneurysm,HPO,phenotype,PHENOTYPE_2156
2157,2157,2157,2157,2157,2157,2157,2157,31740,Abnormal horizontal rectus muscle physiology,HPO,phenotype,PHENOTYPE_2157
2158,2158,2158,2158,2158,2158,2158,2158,30191,Abnormal peripheral nervous system synaptic transmission,HPO,phenotype,PHENOTYPE_2158
2159,2159,2159,2159,2159,2159,2159,2159,9947,Duplication of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_2159
2160,2160,2160,2160,2160,2160,2160,2160,6000461,Cerebral subcortical cyst,HPO,phenotype,PHENOTYPE_2160
2161,2161,2161,2161,2161,2161,2161,2161,1003,Multiple lentigines,HPO,phenotype,PHENOTYPE_2161
2162,2162,2162,2162,2162,2162,2162,2162,100465,Patchy sclerosis of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_2162
2163,2163,2163,2163,2163,2163,2163,2163,12750,T2 hypointense brainstem,HPO,phenotype,PHENOTYPE_2163
2164,2164,2164,2164,2164,2164,2164,2164,6650,Thickening of the lateral border of the scapula,HPO,phenotype,PHENOTYPE_2164
2165,2165,2165,2165,2165,2165,2165,2165,10731,Extension of eyebrows towards upper eyelid,HPO,phenotype,PHENOTYPE_2165
2166,2166,2166,2166,2166,2166,2166,2166,32795,Generalized myoclonic-tonic-clonic seizure,HPO,phenotype,PHENOTYPE_2166
2167,2167,2167,2167,2167,2167,2167,2167,41198,Fractured proximal epiphysis of middle phalanx of manual digit 3,HPO,phenotype,PHENOTYPE_2167
2168,2168,2168,2168,2168,2168,2168,2168,410268,Spleen hemangioma,HPO,phenotype,PHENOTYPE_2168
2169,2169,2169,2169,2169,2169,2169,2169,12280,Hepatic amyloidosis,HPO,phenotype,PHENOTYPE_2169
2170,2170,2170,2170,2170,2170,2170,2170,33674,Pulmonary blood flow redistribution,HPO,phenotype,PHENOTYPE_2170
2171,2171,2171,2171,2171,2171,2171,2171,3000010,Abnormality of orbicularis oris muscle,HPO,phenotype,PHENOTYPE_2171
2172,2172,2172,2172,2172,2172,2172,2172,12722,Heart block,HPO,phenotype,PHENOTYPE_2172
2173,2173,2173,2173,2173,2173,2173,2173,11493,Central opacification of the cornea,HPO,phenotype,PHENOTYPE_2173
2174,2174,2174,2174,2174,2174,2174,2174,31476,Abnormal buccal mucosa cell morphology,HPO,phenotype,PHENOTYPE_2174
2175,2175,2175,2175,2175,2175,2175,2175,2999,Patellar dislocation,HPO,phenotype,PHENOTYPE_2175
2176,2176,2176,2176,2176,2176,2176,2176,32258,Pulmonary histoplasmosis,HPO,phenotype,PHENOTYPE_2176
2177,2177,2177,2177,2177,2177,2177,2177,33137,Abnormal pulmonary alveolar system morphology,HPO,phenotype,PHENOTYPE_2177
2178,2178,2178,2178,2178,2178,2178,2178,30813,Absent tonsils,HPO,phenotype,PHENOTYPE_2178
2179,2179,2179,2179,2179,2179,2179,2179,34203,Decreased iduronate sulfatase level,HPO,phenotype,PHENOTYPE_2179
2180,2180,2180,2180,2180,2180,2180,2180,11015,Abnormal blood glucose concentration,HPO,phenotype,PHENOTYPE_2180
2181,2181,2181,2181,2181,2181,2181,2181,500163,Hypoornithinemia,HPO,phenotype,PHENOTYPE_2181
2182,2182,2182,2182,2182,2182,2182,2182,34979,Facial synkinesis,HPO,phenotype,PHENOTYPE_2182
2183,2183,2183,2183,2183,2183,2183,2183,33358,Abnormal urine osmolality,HPO,phenotype,PHENOTYPE_2183
2184,2184,2184,2184,2184,2184,2184,2184,12580,Calcium phosphate nephrolithiasis,HPO,phenotype,PHENOTYPE_2184
2185,2185,2185,2185,2185,2185,2185,2185,410072,Increased level of ribose in urine,HPO,phenotype,PHENOTYPE_2185
2186,2186,2186,2186,2186,2186,2186,2186,502,Abnormal conjunctiva morphology,HPO,phenotype,PHENOTYPE_2186
2187,2187,2187,2187,2187,2187,2187,2187,337,Broad forehead,HPO,phenotype,PHENOTYPE_2187
2188,2188,2188,2188,2188,2188,2188,2188,8507,Static ophthalmoparesis,HPO,phenotype,PHENOTYPE_2188
2189,2189,2189,2189,2189,2189,2189,2189,5200230,Maladaptive fear-related cognitions,HPO,phenotype,PHENOTYPE_2189
2190,2190,2190,2190,2190,2190,2190,2190,5478,Prominent frontal sinuses,HPO,phenotype,PHENOTYPE_2190
2191,2191,2191,2191,2191,2191,2191,2191,9245,Triangular shaped distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_2191
2192,2192,2192,2192,2192,2192,2192,2192,12394,Iodine contrast allergy,HPO,phenotype,PHENOTYPE_2192
2193,2193,2193,2193,2193,2193,2193,2193,34151,Anti-asparaginyl-tRNA synthetase antibody positivity,HPO,phenotype,PHENOTYPE_2193
2194,2194,2194,2194,2194,2194,2194,2194,41230,Fractured metatarsal bone of digit 4,HPO,phenotype,PHENOTYPE_2194
2195,2195,2195,2195,2195,2195,2195,2195,6000219,Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_2195
2196,2196,2196,2196,2196,2196,2196,2196,40085,Abnormal circulating aldosterone concentration,HPO,phenotype,PHENOTYPE_2196
2197,2197,2197,2197,2197,2197,2197,2197,3524,Decreased methionine synthase activity,HPO,phenotype,PHENOTYPE_2197
2198,2198,2198,2198,2198,2198,2198,2198,8482,Asymmetry of spinal facet joints,HPO,phenotype,PHENOTYPE_2198
2199,2199,2199,2199,2199,2199,2199,2199,9191,Ivory epiphyses of the metacarpals,HPO,phenotype,PHENOTYPE_2199
2200,2200,2200,2200,2200,2200,2200,2200,34956,Exacerbated by lithium exposure,HPO,phenotype,PHENOTYPE_2200
2201,2201,2201,2201,2201,2201,2201,2201,4419,Recurrent thrombophlebitis,HPO,phenotype,PHENOTYPE_2201
2202,2202,2202,2202,2202,2202,2202,2202,5406,Recurrent bacterial skin infections,HPO,phenotype,PHENOTYPE_2202
2203,2203,2203,2203,2203,2203,2203,2203,12064,Unicameral bone cyst,HPO,phenotype,PHENOTYPE_2203
2204,2204,2204,2204,2204,2204,2204,2204,5219,Absence of intrinsic factor,HPO,phenotype,PHENOTYPE_2204
2205,2205,2205,2205,2205,2205,2205,2205,6637,Sternal punctate calcifications,HPO,phenotype,PHENOTYPE_2205
2206,2206,2206,2206,2206,2206,2206,2206,32508,Polyembolokoilamania,HPO,phenotype,PHENOTYPE_2206
2207,2207,2207,2207,2207,2207,2207,2207,33623,Birth history,HPO,phenotype,PHENOTYPE_2207
2208,2208,2208,2208,2208,2208,2208,2208,5200008,Overly formal/pedantic language,HPO,phenotype,PHENOTYPE_2208
2209,2209,2209,2209,2209,2209,2209,2209,2599,Head titubation,HPO,phenotype,PHENOTYPE_2209
2210,2210,2210,2210,2210,2210,2210,2210,11452,Functional abnormality of the middle ear,HPO,phenotype,PHENOTYPE_2210
2211,2211,2211,2211,2211,2211,2211,2211,5200342,Autophagia,HPO,phenotype,PHENOTYPE_2211
2212,2212,2212,2212,2212,2212,2212,2212,31399,Abnormal proportion of double-negative alpha-beta regulatory T cell,HPO,phenotype,PHENOTYPE_2212
2213,2213,2213,2213,2213,2213,2213,2213,11387,Enlarged vestibular aqueduct,HPO,phenotype,PHENOTYPE_2213
2214,2214,2214,2214,2214,2214,2214,2214,9902,Cleft helix,HPO,phenotype,PHENOTYPE_2214
2215,2215,2215,2215,2215,2215,2215,2215,30900,Pruritus on foot,HPO,phenotype,PHENOTYPE_2215
2216,2216,2216,2216,2216,2216,2216,2216,10001,Complete duplication of the distal phalanges of the hand,HPO,phenotype,PHENOTYPE_2216
2217,2217,2217,2217,2217,2217,2217,2217,33921,Renal arteriole endoarterial hypercellularity,HPO,phenotype,PHENOTYPE_2217
2218,2218,2218,2218,2218,2218,2218,2218,1438,Abnormal abdomen morphology,HPO,phenotype,PHENOTYPE_2218
2219,2219,2219,2219,2219,2219,2219,2219,4673,Decreased facial expression,HPO,phenotype,PHENOTYPE_2219
2220,2220,2220,2220,2220,2220,2220,2220,10726,Prominent corneal nerve fibers,HPO,phenotype,PHENOTYPE_2220
2221,2221,2221,2221,2221,2221,2221,2221,10770,Pilonidal fistula,HPO,phenotype,PHENOTYPE_2221
2222,2222,2222,2222,2222,2222,2222,2222,32283,Disseminated nontuberculous mycobacterial infection,HPO,phenotype,PHENOTYPE_2222
2223,2223,2223,2223,2223,2223,2223,2223,500240,Abnormal CSF carnosine concentration,HPO,phenotype,PHENOTYPE_2223
2224,2224,2224,2224,2224,2224,2224,2224,12759,Neurodevelopmental abnormality,HPO,phenotype,PHENOTYPE_2224
2225,2225,2225,2225,2225,2225,2225,2225,25257,Ameliorated by carbohydrate ingestion,HPO,phenotype,PHENOTYPE_2225
2226,2226,2226,2226,2226,2226,2226,2226,31153,Membranous vitreous appearance,HPO,phenotype,PHENOTYPE_2226
2227,2227,2227,2227,2227,2227,2227,2227,31261,Bladder polyp,HPO,phenotype,PHENOTYPE_2227
2228,2228,2228,2228,2228,2228,2228,2228,12465,Elevated hepatic iron concentration,HPO,phenotype,PHENOTYPE_2228
2229,2229,2229,2229,2229,2229,2229,2229,2370,Poor coordination,HPO,phenotype,PHENOTYPE_2229
2230,2230,2230,2230,2230,2230,2230,2230,12535,Abnormal synaptic transmission,HPO,phenotype,PHENOTYPE_2230
2231,2231,2231,2231,2231,2231,2231,2231,25759,Mobile lump,HPO,phenotype,PHENOTYPE_2231
2232,2232,2232,2232,2232,2232,2232,2232,4246,Delayed ossification of the scaphoid,HPO,phenotype,PHENOTYPE_2232
2233,2233,2233,2233,2233,2233,2233,2233,20175,Reduced circulating cholinesterase activity,HPO,phenotype,PHENOTYPE_2233
2234,2234,2234,2234,2234,2234,2234,2234,34910,Increased erythrocyte uroproporphyrin concentration,HPO,phenotype,PHENOTYPE_2234
2235,2235,2235,2235,2235,2235,2235,2235,31846,Femur fracture,HPO,phenotype,PHENOTYPE_2235
2236,2236,2236,2236,2236,2236,2236,2236,100530,Abnormal circulating calcium-phosphate regulating hormone concentration,HPO,phenotype,PHENOTYPE_2236
2237,2237,2237,2237,2237,2237,2237,2237,30694,Pineal parenchymal cell neoplasm,HPO,phenotype,PHENOTYPE_2237
2238,2238,2238,2238,2238,2238,2238,2238,7835,S-shaped palpebral fissures,HPO,phenotype,PHENOTYPE_2238
2239,2239,2239,2239,2239,2239,2239,2239,6958,Abnormal auditory evoked potentials,HPO,phenotype,PHENOTYPE_2239
2240,2240,2240,2240,2240,2240,2240,2240,4527,Large clumps of pigment irregularly distributed along hair shaft,HPO,phenotype,PHENOTYPE_2240
2241,2241,2241,2241,2241,2241,2241,2241,3013,Bulging epiphyses,HPO,phenotype,PHENOTYPE_2241
2242,2242,2242,2242,2242,2242,2242,2242,100806,Sepsis,HPO,phenotype,PHENOTYPE_2242
2243,2243,2243,2243,2243,2243,2243,2243,11638,Anomalous origin of left coronary artery from the pulmonary artery,HPO,phenotype,PHENOTYPE_2243
2244,2244,2244,2244,2244,2244,2244,2244,32879,Focal impaired awareness seizure with dissociation at onset,HPO,phenotype,PHENOTYPE_2244
2245,2245,2245,2245,2245,2245,2245,2245,33139,Elevated circulating uracil concentration,HPO,phenotype,PHENOTYPE_2245
2246,2246,2246,2246,2246,2246,2246,2246,1230,Broad metacarpals,HPO,phenotype,PHENOTYPE_2246
2247,2247,2247,2247,2247,2247,2247,2247,8944,Distal lower limb amyotrophy,HPO,phenotype,PHENOTYPE_2247
2248,2248,2248,2248,2248,2248,2248,2248,31214,Decreased circulating dehydroepiandrosterone concentration,HPO,phenotype,PHENOTYPE_2248
2249,2249,2249,2249,2249,2249,2249,2249,34294,Ductal bile plugs,HPO,phenotype,PHENOTYPE_2249
2250,2250,2250,2250,2250,2250,2250,2250,4763,Paroxysmal supraventricular tachycardia,HPO,phenotype,PHENOTYPE_2250
2251,2251,2251,2251,2251,2251,2251,2251,8838,Stippled calcification proximal humeral epiphyses,HPO,phenotype,PHENOTYPE_2251
2252,2252,2252,2252,2252,2252,2252,2252,2729,Follicular hyperplasia,HPO,phenotype,PHENOTYPE_2252
2253,2253,2253,2253,2253,2253,2253,2253,10822,Scintillating scotoma,HPO,phenotype,PHENOTYPE_2253
2254,2254,2254,2254,2254,2254,2254,2254,6000145,Boot-shaped cardiac silhouette,HPO,phenotype,PHENOTYPE_2254
2255,2255,2255,2255,2255,2255,2255,2255,11777,Thyroid papillary adenoma,HPO,phenotype,PHENOTYPE_2255
2256,2256,2256,2256,2256,2256,2256,2256,34305,2:1 atrioventricular block,HPO,phenotype,PHENOTYPE_2256
2257,2257,2257,2257,2257,2257,2257,2257,8391,Dystrophic fingernails,HPO,phenotype,PHENOTYPE_2257
2258,2258,2258,2258,2258,2258,2258,2258,12247,Specific anosmia,HPO,phenotype,PHENOTYPE_2258
2259,2259,2259,2259,2259,2259,2259,2259,31048,Light-chain paraproteinemia,HPO,phenotype,PHENOTYPE_2259
2260,2260,2260,2260,2260,2260,2260,2260,410401,Worse in evening,HPO,phenotype,PHENOTYPE_2260
2261,2261,2261,2261,2261,2261,2261,2261,4226,Curved distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_2261
2262,2262,2262,2262,2262,2262,2262,2262,1274,Agenesis of corpus callosum,HPO,phenotype,PHENOTYPE_2262
2263,2263,2263,2263,2263,2263,2263,2263,32705,Focal aware cognitive seizure with forced thinking,HPO,phenotype,PHENOTYPE_2263
2264,2264,2264,2264,2264,2264,2264,2264,32785,Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena,HPO,phenotype,PHENOTYPE_2264
2265,2265,2265,2265,2265,2265,2265,2265,33759,Impaired renal tubular reabsorption of magnesium,HPO,phenotype,PHENOTYPE_2265
2266,2266,2266,2266,2266,2266,2266,2266,100565,Hydromyelia,HPO,phenotype,PHENOTYPE_2266
2267,2267,2267,2267,2267,2267,2267,2267,200029,Vasculitis in the skin,HPO,phenotype,PHENOTYPE_2267
2268,2268,2268,2268,2268,2268,2268,2268,635,Blue irides,HPO,phenotype,PHENOTYPE_2268
2269,2269,2269,2269,2269,2269,2269,2269,500027,Aplastic colon,HPO,phenotype,PHENOTYPE_2269
2270,2270,2270,2270,2270,2270,2270,2270,5539,T cell chronic lymphocytic lymphoma/leukemia,HPO,phenotype,PHENOTYPE_2270
2271,2271,2271,2271,2271,2271,2271,2271,12074,Tonic pupil,HPO,phenotype,PHENOTYPE_2271
2272,2272,2272,2272,2272,2272,2272,2272,30918,Low 1-minute APGAR score,HPO,phenotype,PHENOTYPE_2272
2273,2273,2273,2273,2273,2273,2273,2273,100226,Cone-shaped epiphysis of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_2273
2274,2274,2274,2274,2274,2274,2274,2274,30980,Reduced brain glutamine level by MRS,HPO,phenotype,PHENOTYPE_2274
2275,2275,2275,2275,2275,2275,2275,2275,32848,Focal aware cognitive seizure with neglect,HPO,phenotype,PHENOTYPE_2275
2276,2276,2276,2276,2276,2276,2276,2276,45012,Decreased urinary catecholamine concentration,HPO,phenotype,PHENOTYPE_2276
2277,2277,2277,2277,2277,2277,2277,2277,100735,Hypertensive crisis,HPO,phenotype,PHENOTYPE_2277
2278,2278,2278,2278,2278,2278,2278,2278,30104,Abnormal muscle fiber gamma sarcoglycan,HPO,phenotype,PHENOTYPE_2278
2279,2279,2279,2279,2279,2279,2279,2279,33552,Chronic villitis,HPO,phenotype,PHENOTYPE_2279
2280,2280,2280,2280,2280,2280,2280,2280,11094,Increased overbite,HPO,phenotype,PHENOTYPE_2280
2281,2281,2281,2281,2281,2281,2281,2281,34939,Purulent synovial fluid,HPO,phenotype,PHENOTYPE_2281
2282,2282,2282,2282,2282,2282,2282,2282,3954,Angulated forearm bones,HPO,phenotype,PHENOTYPE_2282
2283,2283,2283,2283,2283,2283,2283,2283,410288,Hyperamylasemia,HPO,phenotype,PHENOTYPE_2283
2284,2284,2284,2284,2284,2284,2284,2284,5694,Partial fusion of proximal row of carpal bones,HPO,phenotype,PHENOTYPE_2284
2285,2285,2285,2285,2285,2285,2285,2285,6000358,Reduced muscle glycogen phosphorylase activity,HPO,phenotype,PHENOTYPE_2285
2286,2286,2286,2286,2286,2286,2286,2286,378,Cupped ear,HPO,phenotype,PHENOTYPE_2286
2287,2287,2287,2287,2287,2287,2287,2287,40238,Impaired neutrophil chemotaxis,HPO,phenotype,PHENOTYPE_2287
2288,2288,2288,2288,2288,2288,2288,2288,40406,Perimenopausal,HPO,phenotype,PHENOTYPE_2288
2289,2289,2289,2289,2289,2289,2289,2289,30005,Capillary leak,HPO,phenotype,PHENOTYPE_2289
2290,2290,2290,2290,2290,2290,2290,2290,100178,Stippling of the epiphysis of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_2290
2291,2291,2291,2291,2291,2291,2291,2291,9342,Pseudoepiphysis of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_2291
2292,2292,2292,2292,2292,2292,2292,2292,7510,Focal dermal aplasia/hypoplasia,HPO,phenotype,PHENOTYPE_2292
2293,2293,2293,2293,2293,2293,2293,2293,40091,Asymmetry of the size of ears,HPO,phenotype,PHENOTYPE_2293
2294,2294,2294,2294,2294,2294,2294,2294,9954,Complete duplication of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_2294
2295,2295,2295,2295,2295,2295,2295,2295,100259,Postaxial polydactyly,HPO,phenotype,PHENOTYPE_2295
2296,2296,2296,2296,2296,2296,2296,2296,5000037,Anti-Yo antibody positivity,HPO,phenotype,PHENOTYPE_2296
2297,2297,2297,2297,2297,2297,2297,2297,31420,Small yellow foveal lesion with surrounding gray zone,HPO,phenotype,PHENOTYPE_2297
2298,2298,2298,2298,2298,2298,2298,2298,41083,Fractured phalanx,HPO,phenotype,PHENOTYPE_2298
2299,2299,2299,2299,2299,2299,2299,2299,11049,Agenesis of primary maxillary lateral incisor,HPO,phenotype,PHENOTYPE_2299
2300,2300,2300,2300,2300,2300,2300,2300,4323,Abnormality of body weight,HPO,phenotype,PHENOTYPE_2300
2301,2301,2301,2301,2301,2301,2301,2301,250,Dense calvaria,HPO,phenotype,PHENOTYPE_2301
2302,2302,2302,2302,2302,2302,2302,2302,3756,Skeletal myopathy,HPO,phenotype,PHENOTYPE_2302
2303,2303,2303,2303,2303,2303,2303,2303,32058,Focal cortical dysplasia type IIId,HPO,phenotype,PHENOTYPE_2303
2304,2304,2304,2304,2304,2304,2304,2304,7133,Progressive peripheral neuropathy,HPO,phenotype,PHENOTYPE_2304
2305,2305,2305,2305,2305,2305,2305,2305,5463,Elongated sella turcica,HPO,phenotype,PHENOTYPE_2305
2306,2306,2306,2306,2306,2306,2306,2306,20082,Heinz bodies,HPO,phenotype,PHENOTYPE_2306
2307,2307,2307,2307,2307,2307,2307,2307,10979,Abnormality of lipoprotein cholesterol concentration,HPO,phenotype,PHENOTYPE_2307
2308,2308,2308,2308,2308,2308,2308,2308,6353,Hypoplasia of the tooth germ,HPO,phenotype,PHENOTYPE_2308
2309,2309,2309,2309,2309,2309,2309,2309,6000788,Displacement of the extensor tendon in metacarpophalangeal joint,HPO,phenotype,PHENOTYPE_2309
2310,2310,2310,2310,2310,2310,2310,2310,33876,Arcuate vein lumen cholesterol emboli,HPO,phenotype,PHENOTYPE_2310
2311,2311,2311,2311,2311,2311,2311,2311,40201,Simultanapraxia,HPO,phenotype,PHENOTYPE_2311
2312,2312,2312,2312,2312,2312,2312,2312,41085,Compression-fractured vertebra,HPO,phenotype,PHENOTYPE_2312
2313,2313,2313,2313,2313,2313,2313,2313,9844,Broad middle phalanx of finger,HPO,phenotype,PHENOTYPE_2313
2314,2314,2314,2314,2314,2314,2314,2314,8352,Impaired platelet adhesion,HPO,phenotype,PHENOTYPE_2314
2315,2315,2315,2315,2315,2315,2315,2315,33684,Abnormal muscle fiber-type distribution,HPO,phenotype,PHENOTYPE_2315
2316,2316,2316,2316,2316,2316,2316,2316,8398,Hypoplastic fifth fingernail,HPO,phenotype,PHENOTYPE_2316
2317,2317,2317,2317,2317,2317,2317,2317,32528,Elevated urinary 4-hydroxybutyric acid,HPO,phenotype,PHENOTYPE_2317
2318,2318,2318,2318,2318,2318,2318,2318,6000732,Anti-streptococcus deoxyribonuclease-B antibody positivity,HPO,phenotype,PHENOTYPE_2318
2319,2319,2319,2319,2319,2319,2319,2319,387,Absent earlobe,HPO,phenotype,PHENOTYPE_2319
2320,2320,2320,2320,2320,2320,2320,2320,10835,Dissociated sensory loss,HPO,phenotype,PHENOTYPE_2320
2321,2321,2321,2321,2321,2321,2321,2321,45028,Microlissencephaly,HPO,phenotype,PHENOTYPE_2321
2322,2322,2322,2322,2322,2322,2322,2322,4000084,Reduced sharing of interests,HPO,phenotype,PHENOTYPE_2322
2323,2323,2323,2323,2323,2323,2323,2323,8460,Hypoplastic spinal processes,HPO,phenotype,PHENOTYPE_2323
2324,2324,2324,2324,2324,2324,2324,2324,32949,Renal interstitial calcium phosphate deposits,HPO,phenotype,PHENOTYPE_2324
2325,2325,2325,2325,2325,2325,2325,2325,1854,Podagra,HPO,phenotype,PHENOTYPE_2325
2326,2326,2326,2326,2326,2326,2326,2326,3901,Stippled calcification of the humeral epiphyses,HPO,phenotype,PHENOTYPE_2326
2327,2327,2327,2327,2327,2327,2327,2327,10261,Fragmentation of the epiphyses of the middle phalanges of the hand,HPO,phenotype,PHENOTYPE_2327
2328,2328,2328,2328,2328,2328,2328,2328,9599,Abnormality of thumb epiphysis,HPO,phenotype,PHENOTYPE_2328
2329,2329,2329,2329,2329,2329,2329,2329,7240,Progressive gait ataxia,HPO,phenotype,PHENOTYPE_2329
2330,2330,2330,2330,2330,2330,2330,2330,6000173,Ear pain exacerbated by manipulating tragus or pinna,HPO,phenotype,PHENOTYPE_2330
2331,2331,2331,2331,2331,2331,2331,2331,30903,Grasp reflex,HPO,phenotype,PHENOTYPE_2331
2332,2332,2332,2332,2332,2332,2332,2332,100209,Pseudoepiphysis of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_2332
2333,2333,2333,2333,2333,2333,2333,2333,3744,Genetic anticipation with paternal anticipation bias,HPO,phenotype,PHENOTYPE_2333
2334,2334,2334,2334,2334,2334,2334,2334,9660,Short phalanx of the thumb,HPO,phenotype,PHENOTYPE_2334
2335,2335,2335,2335,2335,2335,2335,2335,6758,Malignant genitourinary tract tumor,HPO,phenotype,PHENOTYPE_2335
2336,2336,2336,2336,2336,2336,2336,2336,5200403,Time agnosia,HPO,phenotype,PHENOTYPE_2336
2337,2337,2337,2337,2337,2337,2337,2337,31321,Myocardial immune cell infiltration,HPO,phenotype,PHENOTYPE_2337
2338,2338,2338,2338,2338,2338,2338,2338,41179,Fractured distal phalanx of manual digit 5,HPO,phenotype,PHENOTYPE_2338
2339,2339,2339,2339,2339,2339,2339,2339,790,Hematuria,HPO,phenotype,PHENOTYPE_2339
2340,2340,2340,2340,2340,2340,2340,2340,9374,Broad phalanges of the 5th finger,HPO,phenotype,PHENOTYPE_2340
2341,2341,2341,2341,2341,2341,2341,2341,34326,Adenomyosis,HPO,phenotype,PHENOTYPE_2341
2342,2342,2342,2342,2342,2342,2342,2342,10121,Small epiphyses of the hallux,HPO,phenotype,PHENOTYPE_2342
2343,2343,2343,2343,2343,2343,2343,2343,6000941,Thumb hypoplasia grade 3B,HPO,phenotype,PHENOTYPE_2343
2344,2344,2344,2344,2344,2344,2344,2344,1919,Acute kidney injury,HPO,phenotype,PHENOTYPE_2344
2345,2345,2345,2345,2345,2345,2345,2345,11045,Agenesis of permanent maxillary central incisor,HPO,phenotype,PHENOTYPE_2345
2346,2346,2346,2346,2346,2346,2346,2346,5200210,Autoscopy,HPO,phenotype,PHENOTYPE_2346
2347,2347,2347,2347,2347,2347,2347,2347,32804,Focal impaired awareness sensory seizure with olfactory features,HPO,phenotype,PHENOTYPE_2347
2348,2348,2348,2348,2348,2348,2348,2348,10016,Bracket epiphysis of the 1st metacarpal,HPO,phenotype,PHENOTYPE_2348
2349,2349,2349,2349,2349,2349,2349,2349,3946,Abnormality of the epiphyses of the elbow,HPO,phenotype,PHENOTYPE_2349
2350,2350,2350,2350,2350,2350,2350,2350,100820,Glomerulopathy,HPO,phenotype,PHENOTYPE_2350
2351,2351,2351,2351,2351,2351,2351,2351,4000193,Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity,HPO,phenotype,PHENOTYPE_2351
2352,2352,2352,2352,2352,2352,2352,2352,10054,Abnormality of the first metatarsal bone,HPO,phenotype,PHENOTYPE_2352
2353,2353,2353,2353,2353,2353,2353,2353,34882,Prostatic calculus,HPO,phenotype,PHENOTYPE_2353
2354,2354,2354,2354,2354,2354,2354,2354,8586,Hypoplasia of the cochlea,HPO,phenotype,PHENOTYPE_2354
2355,2355,2355,2355,2355,2355,2355,2355,40326,Hypoplasia of the olfactory bulb,HPO,phenotype,PHENOTYPE_2355
2356,2356,2356,2356,2356,2356,2356,2356,34459,Ameliorated by lumbar puncture,HPO,phenotype,PHENOTYPE_2356
2357,2357,2357,2357,2357,2357,2357,2357,6977,Deficit in grammar,HPO,phenotype,PHENOTYPE_2357
2358,2358,2358,2358,2358,2358,2358,2358,12087,Abnormal mitochondrial shape,HPO,phenotype,PHENOTYPE_2358
2359,2359,2359,2359,2359,2359,2359,2359,1507,Growth abnormality,HPO,phenotype,PHENOTYPE_2359
2360,2360,2360,2360,2360,2360,2360,2360,430012,Incomplete ossification of palatine bone,HPO,phenotype,PHENOTYPE_2360
2361,2361,2361,2361,2361,2361,2361,2361,31031,Abnormal retinol-binding protein level,HPO,phenotype,PHENOTYPE_2361
2362,2362,2362,2362,2362,2362,2362,2362,9546,Triangular shaped phalanges of the 2nd finger,HPO,phenotype,PHENOTYPE_2362
2363,2363,2363,2363,2363,2363,2363,2363,3165,Elevated circulating parathyroid hormone level,HPO,phenotype,PHENOTYPE_2363
2364,2364,2364,2364,2364,2364,2364,2364,5254,Unilateral chest hypoplasia,HPO,phenotype,PHENOTYPE_2364
2365,2365,2365,2365,2365,2365,2365,2365,1142,Lenticonus,HPO,phenotype,PHENOTYPE_2365
2366,2366,2366,2366,2366,2366,2366,2366,6849,Hypodysplasia of the corpus callosum,HPO,phenotype,PHENOTYPE_2366
2367,2367,2367,2367,2367,2367,2367,2367,6000758,Elevated circulating interleukin 1 receptor antagonist concentration,HPO,phenotype,PHENOTYPE_2367
2368,2368,2368,2368,2368,2368,2368,2368,40420,Decreased urinary neopterin level,HPO,phenotype,PHENOTYPE_2368
2369,2369,2369,2369,2369,2369,2369,2369,100511,Abnormality of vitamin D metabolism,HPO,phenotype,PHENOTYPE_2369
2370,2370,2370,2370,2370,2370,2370,2370,465,Webbed neck,HPO,phenotype,PHENOTYPE_2370
2371,2371,2371,2371,2371,2371,2371,2371,5200288,Sleep-related eating disorder,HPO,phenotype,PHENOTYPE_2371
2372,2372,2372,2372,2372,2372,2372,2372,1285,Spastic tetraparesis,HPO,phenotype,PHENOTYPE_2372
2373,2373,2373,2373,2373,2373,2373,2373,4779,Brittle scalp hair,HPO,phenotype,PHENOTYPE_2373
2374,2374,2374,2374,2374,2374,2374,2374,35021,Elevated circulating C16 acylcarnitine concentration,HPO,phenotype,PHENOTYPE_2374
2375,2375,2375,2375,2375,2375,2375,2375,30880,Raynaud phenomenon,HPO,phenotype,PHENOTYPE_2375
2376,2376,2376,2376,2376,2376,2376,2376,100838,Recurrent cutaneous abscess formation,HPO,phenotype,PHENOTYPE_2376
2377,2377,2377,2377,2377,2377,2377,2377,45038,Gastric lymphoma,HPO,phenotype,PHENOTYPE_2377
2378,2378,2378,2378,2378,2378,2378,2378,7461,Hemangiomatosis,HPO,phenotype,PHENOTYPE_2378
2379,2379,2379,2379,2379,2379,2379,2379,10825,Abnormality of the eleventh cranial nerve,HPO,phenotype,PHENOTYPE_2379
2380,2380,2380,2380,2380,2380,2380,2380,11941,Anterior wedging of L2,HPO,phenotype,PHENOTYPE_2380
2381,2381,2381,2381,2381,2381,2381,2381,6000463,Habitual mouth breathing,HPO,phenotype,PHENOTYPE_2381
2382,2382,2382,2382,2382,2382,2382,2382,34318,Unusual virus reactivation,HPO,phenotype,PHENOTYPE_2382
2383,2383,2383,2383,2383,2383,2383,2383,5200323,Amplification of emotional responsiveness,HPO,phenotype,PHENOTYPE_2383
2384,2384,2384,2384,2384,2384,2384,2384,6254,Elevated circulating alpha-fetoprotein concentration,HPO,phenotype,PHENOTYPE_2384
2385,2385,2385,2385,2385,2385,2385,2385,2747,Respiratory insufficiency due to muscle weakness,HPO,phenotype,PHENOTYPE_2385
2386,2386,2386,2386,2386,2386,2386,2386,6000146,Hydrosalpinx,HPO,phenotype,PHENOTYPE_2386
2387,2387,2387,2387,2387,2387,2387,2387,10880,Increased nuchal translucency,HPO,phenotype,PHENOTYPE_2387
2388,2388,2388,2388,2388,2388,2388,2388,11394,Hypoplasia of the vestibular nerve,HPO,phenotype,PHENOTYPE_2388
2389,2389,2389,2389,2389,2389,2389,2389,32588,Hand apraxia,HPO,phenotype,PHENOTYPE_2389
2390,2390,2390,2390,2390,2390,2390,2390,8197,Absence of pubertal development,HPO,phenotype,PHENOTYPE_2390
2391,2391,2391,2391,2391,2391,2391,2391,8366,Foot joint contracture,HPO,phenotype,PHENOTYPE_2391
2392,2392,2392,2392,2392,2392,2392,2392,10482,Acromelia of the upper limbs,HPO,phenotype,PHENOTYPE_2392
2393,2393,2393,2393,2393,2393,2393,2393,1555,Asymmetry of the thorax,HPO,phenotype,PHENOTYPE_2393
2394,2394,2394,2394,2394,2394,2394,2394,33131,Renal medullary hyperechogenicity,HPO,phenotype,PHENOTYPE_2394
2395,2395,2395,2395,2395,2395,2395,2395,4400,Abnormality of the pylorus,HPO,phenotype,PHENOTYPE_2395
2396,2396,2396,2396,2396,2396,2396,2396,1245,Small thenar eminence,HPO,phenotype,PHENOTYPE_2396
2397,2397,2397,2397,2397,2397,2397,2397,40036,Onychogryphosis of fingernail,HPO,phenotype,PHENOTYPE_2397
2398,2398,2398,2398,2398,2398,2398,2398,34322,Reduced tissue galactocerebrosidase activity,HPO,phenotype,PHENOTYPE_2398
2399,2399,2399,2399,2399,2399,2399,2399,12636,Retinal vein occlusion,HPO,phenotype,PHENOTYPE_2399
2400,2400,2400,2400,2400,2400,2400,2400,12758,Neurodevelopmental delay,HPO,phenotype,PHENOTYPE_2400
2401,2401,2401,2401,2401,2401,2401,2401,30473,Abnormal light-adapted flicker electroretinogram,HPO,phenotype,PHENOTYPE_2401
2402,2402,2402,2402,2402,2402,2402,2402,4340,Abnormality of vitamin B metabolism,HPO,phenotype,PHENOTYPE_2402
2403,2403,2403,2403,2403,2403,2403,2403,31674,Antidromic atrioventricular reentrant tachycardia,HPO,phenotype,PHENOTYPE_2403
2404,2404,2404,2404,2404,2404,2404,2404,3536,Decreased fumarate hydratase activity,HPO,phenotype,PHENOTYPE_2404
2405,2405,2405,2405,2405,2405,2405,2405,33725,Thin corpus callosum,HPO,phenotype,PHENOTYPE_2405
2406,2406,2406,2406,2406,2406,2406,2406,12691,Focal T2 hypointense thalamic lesion,HPO,phenotype,PHENOTYPE_2406
2407,2407,2407,2407,2407,2407,2407,2407,32077,Male urethral meatus stenosis,HPO,phenotype,PHENOTYPE_2407
2408,2408,2408,2408,2408,2408,2408,2408,34466,Homoargininuria,HPO,phenotype,PHENOTYPE_2408
2409,2409,2409,2409,2409,2409,2409,2409,33206,Hyperactive Achilles reflex,HPO,phenotype,PHENOTYPE_2409
2410,2410,2410,2410,2410,2410,2410,2410,40010,Small posterior fossa,HPO,phenotype,PHENOTYPE_2410
2411,2411,2411,2411,2411,2411,2411,2411,2086,Abnormality of the respiratory system,HPO,phenotype,PHENOTYPE_2411
2412,2412,2412,2412,2412,2412,2412,2412,6698,Dilatation of the ventricular cavity,HPO,phenotype,PHENOTYPE_2412
2413,2413,2413,2413,2413,2413,2413,2413,25604,Orbital schwannoma,HPO,phenotype,PHENOTYPE_2413
2414,2414,2414,2414,2414,2414,2414,2414,34684,Abnormal enzyme concentration or activity,HPO,phenotype,PHENOTYPE_2414
2415,2415,2415,2415,2415,2415,2415,2415,25694,Pituitary microadenoma,HPO,phenotype,PHENOTYPE_2415
2416,2416,2416,2416,2416,2416,2416,2416,9800,Maternal diabetes,HPO,phenotype,PHENOTYPE_2416
2417,2417,2417,2417,2417,2417,2417,2417,708,Atypical behavior,HPO,phenotype,PHENOTYPE_2417
2418,2418,2418,2418,2418,2418,2418,2418,11563,Abnormal ventriculoarterial connection,HPO,phenotype,PHENOTYPE_2418
2419,2419,2419,2419,2419,2419,2419,2419,4439,Craniofacial dysostosis,HPO,phenotype,PHENOTYPE_2419
2420,2420,2420,2420,2420,2420,2420,2420,30039,Fused thoracic vertebrae,HPO,phenotype,PHENOTYPE_2420
2421,2421,2421,2421,2421,2421,2421,2421,32165,Placental mesenchymal dysplasia,HPO,phenotype,PHENOTYPE_2421
2422,2422,2422,2422,2422,2422,2422,2422,11561,Overriding atrioventricular valve,HPO,phenotype,PHENOTYPE_2422
2423,2423,2423,2423,2423,2423,2423,2423,45059,Hyperkeratotic papule,HPO,phenotype,PHENOTYPE_2423
2424,2424,2424,2424,2424,2424,2424,2424,3205,Curvilinear intracellular accumulation of autofluorescent lipopigment storage material,HPO,phenotype,PHENOTYPE_2424
2425,2425,2425,2425,2425,2425,2425,2425,4804,Congenital hemolytic anemia,HPO,phenotype,PHENOTYPE_2425
2426,2426,2426,2426,2426,2426,2426,2426,25661,Chiari type III malformation,HPO,phenotype,PHENOTYPE_2426
2427,2427,2427,2427,2427,2427,2427,2427,10316,Ebstein anomaly of the tricuspid valve,HPO,phenotype,PHENOTYPE_2427
2428,2428,2428,2428,2428,2428,2428,2428,34832,Liver angiomyolipoma,HPO,phenotype,PHENOTYPE_2428
2429,2429,2429,2429,2429,2429,2429,2429,33534,Increased circulating brain natriuretic peptide concentration,HPO,phenotype,PHENOTYPE_2429
2430,2430,2430,2430,2430,2430,2430,2430,6001121,Single-finger involvement,HPO,phenotype,PHENOTYPE_2430
2431,2431,2431,2431,2431,2431,2431,2431,10832,Abnormality of pain sensation,HPO,phenotype,PHENOTYPE_2431
2432,2432,2432,2432,2432,2432,2432,2432,31821,Abnormal hypoxanthine-guanine phosphoribosyltransferase level,HPO,phenotype,PHENOTYPE_2432
2433,2433,2433,2433,2433,2433,2433,2433,6000684,Radiating pain,HPO,phenotype,PHENOTYPE_2433
2434,2434,2434,2434,2434,2434,2434,2434,6001045,History of recent intermittent breastfeeding,HPO,phenotype,PHENOTYPE_2434
2435,2435,2435,2435,2435,2435,2435,2435,5005,"Femoral bowing present at birth, straightening with time",HPO,phenotype,PHENOTYPE_2435
2436,2436,2436,2436,2436,2436,2436,2436,11355,Localized skin lesion,HPO,phenotype,PHENOTYPE_2436
2437,2437,2437,2437,2437,2437,2437,2437,11628,Congenital defect of the pericardium,HPO,phenotype,PHENOTYPE_2437
2438,2438,2438,2438,2438,2438,2438,2438,410390,"Decreased proportion of effector memory CD8-positive, alpha-beta T cells",HPO,phenotype,PHENOTYPE_2438
2439,2439,2439,2439,2439,2439,2439,2439,410313,Abnormal urinary 1-methylhistidine concentration,HPO,phenotype,PHENOTYPE_2439
2440,2440,2440,2440,2440,2440,2440,2440,40425,Abnormal urinary hypoxanthine level,HPO,phenotype,PHENOTYPE_2440
2441,2441,2441,2441,2441,2441,2441,2441,11012,Abnormal circulating polysaccharide concentration,HPO,phenotype,PHENOTYPE_2441
2442,2442,2442,2442,2442,2442,2442,2442,1996,Chronic metabolic acidosis,HPO,phenotype,PHENOTYPE_2442
2443,2443,2443,2443,2443,2443,2443,2443,6000599,Elevated urinary 2-oxoisocaproic level,HPO,phenotype,PHENOTYPE_2443
2444,2444,2444,2444,2444,2444,2444,2444,6001060,Anti-lipoprotein lipase autoantibody positivity,HPO,phenotype,PHENOTYPE_2444
2445,2445,2445,2445,2445,2445,2445,2445,25707,Hypoplastic fetal nasal bone,HPO,phenotype,PHENOTYPE_2445
2446,2446,2446,2446,2446,2446,2446,2446,10929,Abnormal blood cation concentration,HPO,phenotype,PHENOTYPE_2446
2447,2447,2447,2447,2447,2447,2447,2447,8743,Coronal hypospadias,HPO,phenotype,PHENOTYPE_2447
2448,2448,2448,2448,2448,2448,2448,2448,5428,Severe recurrent varicella,HPO,phenotype,PHENOTYPE_2448
2449,2449,2449,2449,2449,2449,2449,2449,30621,Foveal inner retinal layer loss on macular OCT,HPO,phenotype,PHENOTYPE_2449
2450,2450,2450,2450,2450,2450,2450,2450,8591,Congenital conductive hearing impairment,HPO,phenotype,PHENOTYPE_2450
2451,2451,2451,2451,2451,2451,2451,2451,2847,Impaired memory B cell generation,HPO,phenotype,PHENOTYPE_2451
2452,2452,2452,2452,2452,2452,2452,2452,11529,Multiple bilateral congenital hypertrophy of retinal pigment epithelium,HPO,phenotype,PHENOTYPE_2452
2453,2453,2453,2453,2453,2453,2453,2453,8797,Early ossification of capital femoral epiphyses,HPO,phenotype,PHENOTYPE_2453
2454,2454,2454,2454,2454,2454,2454,2454,7824,Total ophthalmoplegia,HPO,phenotype,PHENOTYPE_2454
2455,2455,2455,2455,2455,2455,2455,2455,5245,Intestinal hypoplasia,HPO,phenotype,PHENOTYPE_2455
2456,2456,2456,2456,2456,2456,2456,2456,3778,Short mandibular rami,HPO,phenotype,PHENOTYPE_2456
2457,2457,2457,2457,2457,2457,2457,2457,32824,Neonatal focal tonic seizure,HPO,phenotype,PHENOTYPE_2457
2458,2458,2458,2458,2458,2458,2458,2458,8985,Increased intramuscular fat,HPO,phenotype,PHENOTYPE_2458
2459,2459,2459,2459,2459,2459,2459,2459,500049,Retinopathy of prematurity,HPO,phenotype,PHENOTYPE_2459
2460,2460,2460,2460,2460,2460,2460,2460,11996,Elevated coagulation factor V activity,HPO,phenotype,PHENOTYPE_2460
2461,2461,2461,2461,2461,2461,2461,2461,20126,Prostate mass,HPO,phenotype,PHENOTYPE_2461
2462,2462,2462,2462,2462,2462,2462,2462,9267,Ivory epiphysis of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_2462
2463,2463,2463,2463,2463,2463,2463,2463,32639,Elevated leukocyte cystine,HPO,phenotype,PHENOTYPE_2463
2464,2464,2464,2464,2464,2464,2464,2464,30256,Small intestinal polyposis,HPO,phenotype,PHENOTYPE_2464
2465,2465,2465,2465,2465,2465,2465,2465,31191,Deep dermal perivascular inflammatory infiltrate,HPO,phenotype,PHENOTYPE_2465
2466,2466,2466,2466,2466,2466,2466,2466,25629,Anti-myelin-associated glycoprotein antibody positivity,HPO,phenotype,PHENOTYPE_2466
2467,2467,2467,2467,2467,2467,2467,2467,100663,Synotia,HPO,phenotype,PHENOTYPE_2467
2468,2468,2468,2468,2468,2468,2468,2468,25072,Prominent U wave,HPO,phenotype,PHENOTYPE_2468
2469,2469,2469,2469,2469,2469,2469,2469,30278,Hypoplastic vertebral pedicle,HPO,phenotype,PHENOTYPE_2469
2470,2470,2470,2470,2470,2470,2470,2470,410230,Increased anti-nut food product IgE antibody level,HPO,phenotype,PHENOTYPE_2470
2471,2471,2471,2471,2471,2471,2471,2471,9581,Broad proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_2471
2472,2472,2472,2472,2472,2472,2472,2472,12346,Abnormal protein glycosylation,HPO,phenotype,PHENOTYPE_2472
2473,2473,2473,2473,2473,2473,2473,2473,5458,Premature closure of fontanelles,HPO,phenotype,PHENOTYPE_2473
2474,2474,2474,2474,2474,2474,2474,2474,5247,Hypoplasia of the abdominal wall musculature,HPO,phenotype,PHENOTYPE_2474
2475,2475,2475,2475,2475,2475,2475,2475,8935,Generalized neonatal hypotonia,HPO,phenotype,PHENOTYPE_2475
2476,2476,2476,2476,2476,2476,2476,2476,31568,Thickened aortic valve cusp,HPO,phenotype,PHENOTYPE_2476
2477,2477,2477,2477,2477,2477,2477,2477,100685,Abnormal Sharpey fiber morphology,HPO,phenotype,PHENOTYPE_2477
2478,2478,2478,2478,2478,2478,2478,2478,1978,Extramedullary hematopoiesis,HPO,phenotype,PHENOTYPE_2478
2479,2479,2479,2479,2479,2479,2479,2479,6000516,Elevated circulating 21-deoxycortisol concentration,HPO,phenotype,PHENOTYPE_2479
2480,2480,2480,2480,2480,2480,2480,2480,31109,Agalactia,HPO,phenotype,PHENOTYPE_2480
2481,2481,2481,2481,2481,2481,2481,2481,6000272,Elevated circulating octanoylcarnitine concentration,HPO,phenotype,PHENOTYPE_2481
2482,2482,2482,2482,2482,2482,2482,2482,325,Triangular face,HPO,phenotype,PHENOTYPE_2482
2483,2483,2483,2483,2483,2483,2483,2483,12395,Seasonal allergy,HPO,phenotype,PHENOTYPE_2483
2484,2484,2484,2484,2484,2484,2484,2484,30409,Renal transitional cell carcinoma,HPO,phenotype,PHENOTYPE_2484
2485,2485,2485,2485,2485,2485,2485,2485,33193,Ballooning hepatocyte degeneration,HPO,phenotype,PHENOTYPE_2485
2486,2486,2486,2486,2486,2486,2486,2486,34456,Elevated circulating glutathione concentration,HPO,phenotype,PHENOTYPE_2486
2487,2487,2487,2487,2487,2487,2487,2487,9485,Radial deviation of the hand or of fingers of the hand,HPO,phenotype,PHENOTYPE_2487
2488,2488,2488,2488,2488,2488,2488,2488,910,Wide-cupped costochondral junctions,HPO,phenotype,PHENOTYPE_2488
2489,2489,2489,2489,2489,2489,2489,2489,25498,Aceruloplasminemia,HPO,phenotype,PHENOTYPE_2489
2490,2490,2490,2490,2490,2490,2490,2490,9242,Osteolytic defects of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_2490
2491,2491,2491,2491,2491,2491,2491,2491,25342,Central retinal artery occlusion,HPO,phenotype,PHENOTYPE_2491
2492,2492,2492,2492,2492,2492,2492,2492,25204,Triggered by,HPO,phenotype,PHENOTYPE_2492
2493,2493,2493,2493,2493,2493,2493,2493,33339,Increased circulating inosine concentration,HPO,phenotype,PHENOTYPE_2493
2494,2494,2494,2494,2494,2494,2494,2494,33911,Cortical radial artery medial hypertrophy,HPO,phenotype,PHENOTYPE_2494
2495,2495,2495,2495,2495,2495,2495,2495,34607,Decreased circulating 17-hydroxyprogesterone concentration,HPO,phenotype,PHENOTYPE_2495
2496,2496,2496,2496,2496,2496,2496,2496,100358,Contracture of the metatarsophalangeal joint of the 4th toe,HPO,phenotype,PHENOTYPE_2496
2497,2497,2497,2497,2497,2497,2497,2497,6000287,Subchondral fracture,HPO,phenotype,PHENOTYPE_2497
2498,2498,2498,2498,2498,2498,2498,2498,31875,Abnormal circulating hepcidin concentration,HPO,phenotype,PHENOTYPE_2498
2499,2499,2499,2499,2499,2499,2499,2499,4240,Sclerotic foci within carpal bones,HPO,phenotype,PHENOTYPE_2499
2500,2500,2500,2500,2500,2500,2500,2500,40018,Clinodactyly of hallux,HPO,phenotype,PHENOTYPE_2500
2501,2501,2501,2501,2501,2501,2501,2501,1466,Contiguous gene syndrome,HPO,phenotype,PHENOTYPE_2501
2502,2502,2502,2502,2502,2502,2502,2502,40417,Decreased urinary biopterin level,HPO,phenotype,PHENOTYPE_2502
2503,2503,2503,2503,2503,2503,2503,2503,6502,Aplasia/Hypoplasia involving the carpal bones,HPO,phenotype,PHENOTYPE_2503
2504,2504,2504,2504,2504,2504,2504,2504,33143,Jejunitis,HPO,phenotype,PHENOTYPE_2504
2505,2505,2505,2505,2505,2505,2505,2505,3733,Thigh hypertrophy,HPO,phenotype,PHENOTYPE_2505
2506,2506,2506,2506,2506,2506,2506,2506,6216,Single interphalangeal crease of fifth finger,HPO,phenotype,PHENOTYPE_2506
2507,2507,2507,2507,2507,2507,2507,2507,2423,Long-tract sign,HPO,phenotype,PHENOTYPE_2507
2508,2508,2508,2508,2508,2508,2508,2508,11092,Mulberry molar,HPO,phenotype,PHENOTYPE_2508
2509,2509,2509,2509,2509,2509,2509,2509,25532,Positive pathergy test,HPO,phenotype,PHENOTYPE_2509
2510,2510,2510,2510,2510,2510,2510,2510,33838,Dysphoria,HPO,phenotype,PHENOTYPE_2510
2511,2511,2511,2511,2511,2511,2511,2511,5215,Frequent Giardia lamblia infestation,HPO,phenotype,PHENOTYPE_2511
2512,2512,2512,2512,2512,2512,2512,2512,5608,Bilobate gallbladder,HPO,phenotype,PHENOTYPE_2512
2513,2513,2513,2513,2513,2513,2513,2513,200006,Slanting of the palpebral fissure,HPO,phenotype,PHENOTYPE_2513
2514,2514,2514,2514,2514,2514,2514,2514,30187,Titubation,HPO,phenotype,PHENOTYPE_2514
2515,2515,2515,2515,2515,2515,2515,2515,4890,Elevated pulmonary artery pressure,HPO,phenotype,PHENOTYPE_2515
2516,2516,2516,2516,2516,2516,2516,2516,30068,Olfactory esthesioneuroblastoma,HPO,phenotype,PHENOTYPE_2516
2517,2517,2517,2517,2517,2517,2517,2517,31868,Optic ataxia,HPO,phenotype,PHENOTYPE_2517
2518,2518,2518,2518,2518,2518,2518,2518,4279,Short palm,HPO,phenotype,PHENOTYPE_2518
2519,2519,2519,2519,2519,2519,2519,2519,6097,3-4 finger osseus syndactyly,HPO,phenotype,PHENOTYPE_2519
2520,2520,2520,2520,2520,2520,2520,2520,6453,Lateral displacement of the femoral head,HPO,phenotype,PHENOTYPE_2520
2521,2521,2521,2521,2521,2521,2521,2521,10544,Vertical nystagmus,HPO,phenotype,PHENOTYPE_2521
2522,2522,2522,2522,2522,2522,2522,2522,33629,IgG4 autoimmune antibody positivity,HPO,phenotype,PHENOTYPE_2522
2523,2523,2523,2523,2523,2523,2523,2523,10827,Abnormal seventh cranial physiology,HPO,phenotype,PHENOTYPE_2523
2524,2524,2524,2524,2524,2524,2524,2524,25493,Palmoplantar erythema,HPO,phenotype,PHENOTYPE_2524
2525,2525,2525,2525,2525,2525,2525,2525,12610,Abnormality of urinary uric acid level,HPO,phenotype,PHENOTYPE_2525
2526,2526,2526,2526,2526,2526,2526,2526,30822,Hooded upper eyelid,HPO,phenotype,PHENOTYPE_2526
2527,2527,2527,2527,2527,2527,2527,2527,100000,Early onset of sexual maturation,HPO,phenotype,PHENOTYPE_2527
2528,2528,2528,2528,2528,2528,2528,2528,8942,Acute rhabdomyolysis,HPO,phenotype,PHENOTYPE_2528
2529,2529,2529,2529,2529,2529,2529,2529,11543,Superior-inferior ventricles without criss-cross atrioventricular valves,HPO,phenotype,PHENOTYPE_2529
2530,2530,2530,2530,2530,2530,2530,2530,12444,Brain atrophy,HPO,phenotype,PHENOTYPE_2530
2531,2531,2531,2531,2531,2531,2531,2531,7797,Retinal vascular malformation,HPO,phenotype,PHENOTYPE_2531
2532,2532,2532,2532,2532,2532,2532,2532,12665,Moderately reduced left ventricular ejection fraction,HPO,phenotype,PHENOTYPE_2532
2533,2533,2533,2533,2533,2533,2533,2533,31716,Cyclic exotropia,HPO,phenotype,PHENOTYPE_2533
2534,2534,2534,2534,2534,2534,2534,2534,10966,Abnormal circulating fatty-acid anion concentration,HPO,phenotype,PHENOTYPE_2534
2535,2535,2535,2535,2535,2535,2535,2535,45089,Distinctive finding,HPO,phenotype,PHENOTYPE_2535
2536,2536,2536,2536,2536,2536,2536,2536,5000043,Anti-D2 R antibody,HPO,phenotype,PHENOTYPE_2536
2537,2537,2537,2537,2537,2537,2537,2537,11157,Focal sensory seizure,HPO,phenotype,PHENOTYPE_2537
2538,2538,2538,2538,2538,2538,2538,2538,2235,Pili canaliculi,HPO,phenotype,PHENOTYPE_2538
2539,2539,2539,2539,2539,2539,2539,2539,3319,Abnormality of the cervical spine,HPO,phenotype,PHENOTYPE_2539
2540,2540,2540,2540,2540,2540,2540,2540,3333,Increased serum beta-hexosaminidase,HPO,phenotype,PHENOTYPE_2540
2541,2541,2541,2541,2541,2541,2541,2541,9321,Absent epiphysis of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_2541
2542,2542,2542,2542,2542,2542,2542,2542,10332,Deviation of the 3rd toe,HPO,phenotype,PHENOTYPE_2542
2543,2543,2543,2543,2543,2543,2543,2543,31174,Double-layered patella,HPO,phenotype,PHENOTYPE_2543
2544,2544,2544,2544,2544,2544,2544,2544,100153,Pseudoepiphysis of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_2544
2545,2545,2545,2545,2545,2545,2545,2545,33059,Decreased circulating complement C6 concentration,HPO,phenotype,PHENOTYPE_2545
2546,2546,2546,2546,2546,2546,2546,2546,34768,Rete ridge elongation,HPO,phenotype,PHENOTYPE_2546
2547,2547,2547,2547,2547,2547,2547,2547,4490,Calvarial hyperostosis,HPO,phenotype,PHENOTYPE_2547
2548,2548,2548,2548,2548,2548,2548,2548,31244,Swollen lip,HPO,phenotype,PHENOTYPE_2548
2549,2549,2549,2549,2549,2549,2549,2549,6000342,Thickened mitral valve cusp,HPO,phenotype,PHENOTYPE_2549
2550,2550,2550,2550,2550,2550,2550,2550,33115,Elevated circulating tenascin-C level,HPO,phenotype,PHENOTYPE_2550
2551,2551,2551,2551,2551,2551,2551,2551,40285,Excluded,HPO,phenotype,PHENOTYPE_2551
2552,2552,2552,2552,2552,2552,2552,2552,3730,EMG: myotonic runs,HPO,phenotype,PHENOTYPE_2552
2553,2553,2553,2553,2553,2553,2553,2553,9441,Bullet-shaped phalanges of the 3rd finger,HPO,phenotype,PHENOTYPE_2553
2554,2554,2554,2554,2554,2554,2554,2554,34744,Elevated urinary S-sulfocysteine level,HPO,phenotype,PHENOTYPE_2554
2555,2555,2555,2555,2555,2555,2555,2555,31235,Predominantly epidermal neutrophilic infiltrate,HPO,phenotype,PHENOTYPE_2555
2556,2556,2556,2556,2556,2556,2556,2556,6000673,Abnormal CSF N-acetylaspartic acid concentration,HPO,phenotype,PHENOTYPE_2556
2557,2557,2557,2557,2557,2557,2557,2557,6001025,Pathological inclusion body,HPO,phenotype,PHENOTYPE_2557
2558,2558,2558,2558,2558,2558,2558,2558,5,Mode of inheritance,HPO,phenotype,PHENOTYPE_2558
2559,2559,2559,2559,2559,2559,2559,2559,32222,Serrated intestinal polyps,HPO,phenotype,PHENOTYPE_2559
2560,2560,2560,2560,2560,2560,2560,2560,618,Blindness,HPO,phenotype,PHENOTYPE_2560
2561,2561,2561,2561,2561,2561,2561,2561,25585,Hyperphoria,HPO,phenotype,PHENOTYPE_2561
2562,2562,2562,2562,2562,2562,2562,2562,20188,Anterior predominant pachygyria with 5-10 mm cortical thickness,HPO,phenotype,PHENOTYPE_2562
2563,2563,2563,2563,2563,2563,2563,2563,6000774,History of recent trauma to external ear canal,HPO,phenotype,PHENOTYPE_2563
2564,2564,2564,2564,2564,2564,2564,2564,4000035,Primary obstructive megaureter,HPO,phenotype,PHENOTYPE_2564
2565,2565,2565,2565,2565,2565,2565,2565,1657,Prolonged QT interval,HPO,phenotype,PHENOTYPE_2565
2566,2566,2566,2566,2566,2566,2566,2566,30460,Abnormal timing of pattern reversal visual evoked potentials,HPO,phenotype,PHENOTYPE_2566
2567,2567,2567,2567,2567,2567,2567,2567,2150,Hypercalciuria,HPO,phenotype,PHENOTYPE_2567
2568,2568,2568,2568,2568,2568,2568,2568,100179,Triangular epiphysis of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_2568
2569,2569,2569,2569,2569,2569,2569,2569,430137,Elevated urine succinic acid level,HPO,phenotype,PHENOTYPE_2569
2570,2570,2570,2570,2570,2570,2570,2570,9897,Horizontal crus of helix,HPO,phenotype,PHENOTYPE_2570
2571,2571,2571,2571,2571,2571,2571,2571,9579,Proximal/middle symphalangism of the 2nd finger,HPO,phenotype,PHENOTYPE_2571
2572,2572,2572,2572,2572,2572,2572,2572,30509,Retinal racemose hemangioma,HPO,phenotype,PHENOTYPE_2572
2573,2573,2573,2573,2573,2573,2573,2573,32503,Ameliorated by ethanol ingestion,HPO,phenotype,PHENOTYPE_2573
2574,2574,2574,2574,2574,2574,2574,2574,10811,Narrow uvula,HPO,phenotype,PHENOTYPE_2574
2575,2575,2575,2575,2575,2575,2575,2575,3541,Urinary glycosaminoglycan excretion,HPO,phenotype,PHENOTYPE_2575
2576,2576,2576,2576,2576,2576,2576,2576,34030,Lip cyanosis,HPO,phenotype,PHENOTYPE_2576
2577,2577,2577,2577,2577,2577,2577,2577,6000976,Intrahepatic inclusion bodies,HPO,phenotype,PHENOTYPE_2577
2578,2578,2578,2578,2578,2578,2578,2578,3508,Proportionate short stature,HPO,phenotype,PHENOTYPE_2578
2579,2579,2579,2579,2579,2579,2579,2579,124,Renal tubular dysfunction,HPO,phenotype,PHENOTYPE_2579
2580,2580,2580,2580,2580,2580,2580,2580,522,Alacrima,HPO,phenotype,PHENOTYPE_2580
2581,2581,2581,2581,2581,2581,2581,2581,6000609,Elevated urinary 3-hydroxyadipic acid level,HPO,phenotype,PHENOTYPE_2581
2582,2582,2582,2582,2582,2582,2582,2582,45,Abnormal scrotum morphology,HPO,phenotype,PHENOTYPE_2582
2583,2583,2583,2583,2583,2583,2583,2583,31229,Increased incisura length,HPO,phenotype,PHENOTYPE_2583
2584,2584,2584,2584,2584,2584,2584,2584,31071,Abnormal endocrine morphology,HPO,phenotype,PHENOTYPE_2584
2585,2585,2585,2585,2585,2585,2585,2585,12232,Shortened QT interval,HPO,phenotype,PHENOTYPE_2585
2586,2586,2586,2586,2586,2586,2586,2586,12775,Stellate iris,HPO,phenotype,PHENOTYPE_2586
2587,2587,2587,2587,2587,2587,2587,2587,22,Abnormal male internal genitalia morphology,HPO,phenotype,PHENOTYPE_2587
2588,2588,2588,2588,2588,2588,2588,2588,6001177,Omovertebral bone,HPO,phenotype,PHENOTYPE_2588
2589,2589,2589,2589,2589,2589,2589,2589,11525,Iris nevus,HPO,phenotype,PHENOTYPE_2589
2590,2590,2590,2590,2590,2590,2590,2590,6000172,Tympanic membrane bulging,HPO,phenotype,PHENOTYPE_2590
2591,2591,2591,2591,2591,2591,2591,2591,33687,Short term memory impairment,HPO,phenotype,PHENOTYPE_2591
2592,2592,2592,2592,2592,2592,2592,2592,500244,Increased CSF ornithine concentration,HPO,phenotype,PHENOTYPE_2592
2593,2593,2593,2593,2593,2593,2593,2593,9100,Thick anterior alveolar ridges,HPO,phenotype,PHENOTYPE_2593
2594,2594,2594,2594,2594,2594,2594,2594,4618,Sandwich appearance of vertebral bodies,HPO,phenotype,PHENOTYPE_2594
2595,2595,2595,2595,2595,2595,2595,2595,4679,Large tarsal bones,HPO,phenotype,PHENOTYPE_2595
2596,2596,2596,2596,2596,2596,2596,2596,25162,Severe temper tantrums,HPO,phenotype,PHENOTYPE_2596
2597,2597,2597,2597,2597,2597,2597,2597,12805,Iris transillumination defect,HPO,phenotype,PHENOTYPE_2597
2598,2598,2598,2598,2598,2598,2598,2598,100877,Renal diverticulum,HPO,phenotype,PHENOTYPE_2598
2599,2599,2599,2599,2599,2599,2599,2599,32170,Severe varicella zoster infection,HPO,phenotype,PHENOTYPE_2599
2600,2600,2600,2600,2600,2600,2600,2600,3026,Short long bone,HPO,phenotype,PHENOTYPE_2600
2601,2601,2601,2601,2601,2601,2601,2601,2921,Abnormal cerebrospinal fluid morphology,HPO,phenotype,PHENOTYPE_2601
2602,2602,2602,2602,2602,2602,2602,2602,40163,Abnormal pelvis bone morphology,HPO,phenotype,PHENOTYPE_2602
2603,2603,2603,2603,2603,2603,2603,2603,9899,Prominent crus of helix,HPO,phenotype,PHENOTYPE_2603
2604,2604,2604,2604,2604,2604,2604,2604,10012,Abnormal 4th metacarpal morphology,HPO,phenotype,PHENOTYPE_2604
2605,2605,2605,2605,2605,2605,2605,2605,40071,Abnormal morphology of ulna,HPO,phenotype,PHENOTYPE_2605
2606,2606,2606,2606,2606,2606,2606,2606,6000430,Reduced tissue acetyl-CoA carboxylase activity,HPO,phenotype,PHENOTYPE_2606
2607,2607,2607,2607,2607,2607,2607,2607,40405,Asymmetric thickening of the nipple-areolar complex,HPO,phenotype,PHENOTYPE_2607
2608,2608,2608,2608,2608,2608,2608,2608,10246,Absent epiphyses of the distal phalanges of the hand,HPO,phenotype,PHENOTYPE_2608
2609,2609,2609,2609,2609,2609,2609,2609,10004,Partial duplication of the distal phalanges of the hand,HPO,phenotype,PHENOTYPE_2609
2610,2610,2610,2610,2610,2610,2610,2610,6737,Extraadrenal pheochromocytoma,HPO,phenotype,PHENOTYPE_2610
2611,2611,2611,2611,2611,2611,2611,2611,2923,Rheumatoid factor positive,HPO,phenotype,PHENOTYPE_2611
2612,2612,2612,2612,2612,2612,2612,2612,3647,Electron transfer flavoprotein-ubiquinone oxidoreductase defect,HPO,phenotype,PHENOTYPE_2612
2613,2613,2613,2613,2613,2613,2613,2613,4384,Type I truncus arteriosus,HPO,phenotype,PHENOTYPE_2613
2614,2614,2614,2614,2614,2614,2614,2614,11727,Peroneal muscle weakness,HPO,phenotype,PHENOTYPE_2614
2615,2615,2615,2615,2615,2615,2615,2615,4000202,Reduced tissue alpha-N-acetylgalactosaminidase activity,HPO,phenotype,PHENOTYPE_2615
2616,2616,2616,2616,2616,2616,2616,2616,34610,Decreased circulating myo-inositol concentration,HPO,phenotype,PHENOTYPE_2616
2617,2617,2617,2617,2617,2617,2617,2617,21,Megacystis,HPO,phenotype,PHENOTYPE_2617
2618,2618,2618,2618,2618,2618,2618,2618,33277,Glomerular fibrinoid necrosis,HPO,phenotype,PHENOTYPE_2618
2619,2619,2619,2619,2619,2619,2619,2619,1386,Joint swelling,HPO,phenotype,PHENOTYPE_2619
2620,2620,2620,2620,2620,2620,2620,2620,6000078,Nasal hamartoma,HPO,phenotype,PHENOTYPE_2620
2621,2621,2621,2621,2621,2621,2621,2621,4407,Bony paranasal bossing,HPO,phenotype,PHENOTYPE_2621
2622,2622,2622,2622,2622,2622,2622,2622,9755,Ankyloblepharon,HPO,phenotype,PHENOTYPE_2622
2623,2623,2623,2623,2623,2623,2623,2623,31541,Linear C3 deposits along the epidermal basement membrane zone,HPO,phenotype,PHENOTYPE_2623
2624,2624,2624,2624,2624,2624,2624,2624,30197,Fatigable weakness of skeletal muscles,HPO,phenotype,PHENOTYPE_2624
2625,2625,2625,2625,2625,2625,2625,2625,32860,Generalized non-convulsive status epilepticus without coma,HPO,phenotype,PHENOTYPE_2625
2626,2626,2626,2626,2626,2626,2626,2626,34542,Hairshafts with longitudinal grooves,HPO,phenotype,PHENOTYPE_2626
2627,2627,2627,2627,2627,2627,2627,2627,500144,Hypoisoleucinemia,HPO,phenotype,PHENOTYPE_2627
2628,2628,2628,2628,2628,2628,2628,2628,31402,Reduced antigen-specific T cell proliferation,HPO,phenotype,PHENOTYPE_2628
2629,2629,2629,2629,2629,2629,2629,2629,31881,Decreased tear drainage,HPO,phenotype,PHENOTYPE_2629
2630,2630,2630,2630,2630,2630,2630,2630,7526,Hypopigmented skin patches on arms,HPO,phenotype,PHENOTYPE_2630
2631,2631,2631,2631,2631,2631,2631,2631,5200242,Cognitive distortion,HPO,phenotype,PHENOTYPE_2631
2632,2632,2632,2632,2632,2632,2632,2632,32319,Health status,HPO,phenotype,PHENOTYPE_2632
2633,2633,2633,2633,2633,2633,2633,2633,6000918,Transverse terminal upper limb defect,HPO,phenotype,PHENOTYPE_2633
2634,2634,2634,2634,2634,2634,2634,2634,5168,Elevated right atrial pressure,HPO,phenotype,PHENOTYPE_2634
2635,2635,2635,2635,2635,2635,2635,2635,11939,3-4 finger cutaneous syndactyly,HPO,phenotype,PHENOTYPE_2635
2636,2636,2636,2636,2636,2636,2636,2636,11901,Dysfibrinogenemia,HPO,phenotype,PHENOTYPE_2636
2637,2637,2637,2637,2637,2637,2637,2637,3353,Propionyl-CoA carboxylase deficiency,HPO,phenotype,PHENOTYPE_2637
2638,2638,2638,2638,2638,2638,2638,2638,31352,Chest tightness,HPO,phenotype,PHENOTYPE_2638
2639,2639,2639,2639,2639,2639,2639,2639,2334,Abnormal cerebellar vermis morphology,HPO,phenotype,PHENOTYPE_2639
2640,2640,2640,2640,2640,2640,2640,2640,100950,Decreased 3-hydroxyacyl-CoA dehydrogenase level,HPO,phenotype,PHENOTYPE_2640
2641,2641,2641,2641,2641,2641,2641,2641,6000682,History of compressive dressings,HPO,phenotype,PHENOTYPE_2641
2642,2642,2642,2642,2642,2642,2642,2642,34995,"Reduced tissue fructose-1,6-bisphosphatase activity",HPO,phenotype,PHENOTYPE_2642
2643,2643,2643,2643,2643,2643,2643,2643,2383,Infectious encephalitis,HPO,phenotype,PHENOTYPE_2643
2644,2644,2644,2644,2644,2644,2644,2644,41077,Increased immunoglobulin level in body fluid,HPO,phenotype,PHENOTYPE_2644
2645,2645,2645,2645,2645,2645,2645,2645,6000897,Pancreatic VIPoma,HPO,phenotype,PHENOTYPE_2645
2646,2646,2646,2646,2646,2646,2646,2646,12035,Steatocystoma multiplex,HPO,phenotype,PHENOTYPE_2646
2647,2647,2647,2647,2647,2647,2647,2647,30584,Color vision test abnormality,HPO,phenotype,PHENOTYPE_2647
2648,2648,2648,2648,2648,2648,2648,2648,40230,Decreased level of tissue plasminogen activator,HPO,phenotype,PHENOTYPE_2648
2649,2649,2649,2649,2649,2649,2649,2649,11386,Narrow internal auditory canal,HPO,phenotype,PHENOTYPE_2649
2650,2650,2650,2650,2650,2650,2650,2650,100206,Fragmentation of the epiphysis of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_2650
2651,2651,2651,2651,2651,2651,2651,2651,4000037,Congenital hydrocele,HPO,phenotype,PHENOTYPE_2651
2652,2652,2652,2652,2652,2652,2652,2652,7450,Increased groin pigmentation with raindrop depigmentation,HPO,phenotype,PHENOTYPE_2652
2653,2653,2653,2653,2653,2653,2653,2653,8820,Absent ossification of capital femoral epiphysis,HPO,phenotype,PHENOTYPE_2653
2654,2654,2654,2654,2654,2654,2654,2654,100329,Tarsometatarsal synostosis,HPO,phenotype,PHENOTYPE_2654
2655,2655,2655,2655,2655,2655,2655,2655,5580,Duplication of renal pelvis,HPO,phenotype,PHENOTYPE_2655
2656,2656,2656,2656,2656,2656,2656,2656,20269,Lymph-node proliferation centers,HPO,phenotype,PHENOTYPE_2656
2657,2657,2657,2657,2657,2657,2657,2657,9656,Symphalangism of the thumb,HPO,phenotype,PHENOTYPE_2657
2658,2658,2658,2658,2658,2658,2658,2658,40264,Jaw pain,HPO,phenotype,PHENOTYPE_2658
2659,2659,2659,2659,2659,2659,2659,2659,32171,Bladder pain,HPO,phenotype,PHENOTYPE_2659
2660,2660,2660,2660,2660,2660,2660,2660,2601,Paresis of extensor muscles of the big toe,HPO,phenotype,PHENOTYPE_2660
2661,2661,2661,2661,2661,2661,2661,2661,12436,Nonocclusive coronary artery atherosclerosis,HPO,phenotype,PHENOTYPE_2661
2662,2662,2662,2662,2662,2662,2662,2662,100883,Chorangioma,HPO,phenotype,PHENOTYPE_2662
2663,2663,2663,2663,2663,2663,2663,2663,100181,Bracket epiphysis of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_2663
2664,2664,2664,2664,2664,2664,2664,2664,6161,Short metacarpals with rounded proximal ends,HPO,phenotype,PHENOTYPE_2664
2665,2665,2665,2665,2665,2665,2665,2665,4000145,History of recent viral illness,HPO,phenotype,PHENOTYPE_2665
2666,2666,2666,2666,2666,2666,2666,2666,8167,Very long chain fatty acid accumulation,HPO,phenotype,PHENOTYPE_2666
2667,2667,2667,2667,2667,2667,2667,2667,430129,Posterior fossa localization,HPO,phenotype,PHENOTYPE_2667
2668,2668,2668,2668,2668,2668,2668,2668,430060,Bloodstream parasite-specific antibody positivity,HPO,phenotype,PHENOTYPE_2668
2669,2669,2669,2669,2669,2669,2669,2669,4302,Functional motor deficit,HPO,phenotype,PHENOTYPE_2669
2670,2670,2670,2670,2670,2670,2670,2670,11695,Cerebellar hemorrhage,HPO,phenotype,PHENOTYPE_2670
2671,2671,2671,2671,2671,2671,2671,2671,5255,Absence of pectoralis minor muscle,HPO,phenotype,PHENOTYPE_2671
2672,2672,2672,2672,2672,2672,2672,2672,5200307,Short N2 sleep,HPO,phenotype,PHENOTYPE_2672
2673,2673,2673,2673,2673,2673,2673,2673,5121,Posterior scalloping of vertebral bodies,HPO,phenotype,PHENOTYPE_2673
2674,2674,2674,2674,2674,2674,2674,2674,34563,Neck teratoma,HPO,phenotype,PHENOTYPE_2674
2675,2675,2675,2675,2675,2675,2675,2675,34781,Purulent parotid gland drainage,HPO,phenotype,PHENOTYPE_2675
2676,2676,2676,2676,2676,2676,2676,2676,3343,Reduced glutathione synthetase level,HPO,phenotype,PHENOTYPE_2676
2677,2677,2677,2677,2677,2677,2677,2677,10077,Broad distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_2677
2678,2678,2678,2678,2678,2678,2678,2678,12009,EEG with central focal spike waves,HPO,phenotype,PHENOTYPE_2678
2679,2679,2679,2679,2679,2679,2679,2679,11054,Agenesis of molar,HPO,phenotype,PHENOTYPE_2679
2680,2680,2680,2680,2680,2680,2680,2680,6000112,Hockey-stick palmar crease,HPO,phenotype,PHENOTYPE_2680
2681,2681,2681,2681,2681,2681,2681,2681,30512,Difficulty adjusting to changes in luminance,HPO,phenotype,PHENOTYPE_2681
2682,2682,2682,2682,2682,2682,2682,2682,12326,Abnormal celiac artery morphology,HPO,phenotype,PHENOTYPE_2682
2683,2683,2683,2683,2683,2683,2683,2683,35017,Elevated circulating medium-chain acylcarnitine concentration,HPO,phenotype,PHENOTYPE_2683
2684,2684,2684,2684,2684,2684,2684,2684,320,Bird-like facies,HPO,phenotype,PHENOTYPE_2684
2685,2685,2685,2685,2685,2685,2685,2685,20196,IgM heavy chain paraproteinemia,HPO,phenotype,PHENOTYPE_2685
2686,2686,2686,2686,2686,2686,2686,2686,25531,Harlequin phenomenon,HPO,phenotype,PHENOTYPE_2686
2687,2687,2687,2687,2687,2687,2687,2687,6000786,Absent superficial temporal artery pulse,HPO,phenotype,PHENOTYPE_2687
2688,2688,2688,2688,2688,2688,2688,2688,8093,Short 4th toe,HPO,phenotype,PHENOTYPE_2688
2689,2689,2689,2689,2689,2689,2689,2689,32481,Abnormal pituitary glycoprotein hormone alpha subunit level,HPO,phenotype,PHENOTYPE_2689
2690,2690,2690,2690,2690,2690,2690,2690,25300,Malar rash,HPO,phenotype,PHENOTYPE_2690
2691,2691,2691,2691,2691,2691,2691,2691,5918,Abnormal finger phalanx morphology,HPO,phenotype,PHENOTYPE_2691
2692,2692,2692,2692,2692,2692,2692,2692,12567,Premature epimetaphyseal fusion in ulna,HPO,phenotype,PHENOTYPE_2692
2693,2693,2693,2693,2693,2693,2693,2693,11204,EEG with continuous slow activity,HPO,phenotype,PHENOTYPE_2693
2694,2694,2694,2694,2694,2694,2694,2694,3000041,Abnormality of external carotid artery,HPO,phenotype,PHENOTYPE_2694
2695,2695,2695,2695,2695,2695,2695,2695,12590,Abnormal urine output,HPO,phenotype,PHENOTYPE_2695
2696,2696,2696,2696,2696,2696,2696,2696,31424,Abnormal circulating beta-C-terminal telopeptide concentration,HPO,phenotype,PHENOTYPE_2696
2697,2697,2697,2697,2697,2697,2697,2697,33529,Abnormal cardiac index,HPO,phenotype,PHENOTYPE_2697
2698,2698,2698,2698,2698,2698,2698,2698,4910,Bicarbonate-wasting renal tubular acidosis,HPO,phenotype,PHENOTYPE_2698
2699,2699,2699,2699,2699,2699,2699,2699,9092,Progressive alveolar ridge hypertrophy,HPO,phenotype,PHENOTYPE_2699
2700,2700,2700,2700,2700,2700,2700,2700,8450,Narrow vertebral interpedicular distance,HPO,phenotype,PHENOTYPE_2700
2701,2701,2701,2701,2701,2701,2701,2701,10374,Curved 4th toe phalanx,HPO,phenotype,PHENOTYPE_2701
2702,2702,2702,2702,2702,2702,2702,2702,9596,Aplasia of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_2702
2703,2703,2703,2703,2703,2703,2703,2703,6000531,Abnormal urinary organic compound level,HPO,phenotype,PHENOTYPE_2703
2704,2704,2704,2704,2704,2704,2704,2704,4573,Anterior wedging of T11,HPO,phenotype,PHENOTYPE_2704
2705,2705,2705,2705,2705,2705,2705,2705,32551,Hemorrhoids,HPO,phenotype,PHENOTYPE_2705
2706,2706,2706,2706,2706,2706,2706,2706,100108,Small epiphysis of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_2706
2707,2707,2707,2707,2707,2707,2707,2707,500073,Abnormal ocular alignment,HPO,phenotype,PHENOTYPE_2707
2708,2708,2708,2708,2708,2708,2708,2708,31995,Squawks,HPO,phenotype,PHENOTYPE_2708
2709,2709,2709,2709,2709,2709,2709,2709,9850,Triangular shaped middle phalanges of the hand,HPO,phenotype,PHENOTYPE_2709
2710,2710,2710,2710,2710,2710,2710,2710,9560,Curved distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_2710
2711,2711,2711,2711,2711,2711,2711,2711,6000938,Thumb hypoplasia grade 1,HPO,phenotype,PHENOTYPE_2711
2712,2712,2712,2712,2712,2712,2712,2712,3554,Type 2 muscle fiber atrophy,HPO,phenotype,PHENOTYPE_2712
2713,2713,2713,2713,2713,2713,2713,2713,2093,Respiratory insufficiency,HPO,phenotype,PHENOTYPE_2713
2714,2714,2714,2714,2714,2714,2714,2714,100152,Ivory epiphysis of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_2714
2715,2715,2715,2715,2715,2715,2715,2715,4795,Hamartomatous stomach polyps,HPO,phenotype,PHENOTYPE_2715
2716,2716,2716,2716,2716,2716,2716,2716,10849,EEG with spike-wave complexes (>3.5 Hz),HPO,phenotype,PHENOTYPE_2716
2717,2717,2717,2717,2717,2717,2717,2717,10690,Mirror image hand polydactyly,HPO,phenotype,PHENOTYPE_2717
2718,2718,2718,2718,2718,2718,2718,2718,7780,Cortical pulverulent cataract,HPO,phenotype,PHENOTYPE_2718
2719,2719,2719,2719,2719,2719,2719,2719,6000179,History of gastric bypass surgery,HPO,phenotype,PHENOTYPE_2719
2720,2720,2720,2720,2720,2720,2720,2720,25148,Dark choroid,HPO,phenotype,PHENOTYPE_2720
2721,2721,2721,2721,2721,2721,2721,2721,7328,Impaired pain sensation,HPO,phenotype,PHENOTYPE_2721
2722,2722,2722,2722,2722,2722,2722,2722,9341,Ivory epiphysis of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_2722
2723,2723,2723,2723,2723,2723,2723,2723,31328,Perivascular cardiac fibrosis,HPO,phenotype,PHENOTYPE_2723
2724,2724,2724,2724,2724,2724,2724,2724,100009,Intracranial meningioma,HPO,phenotype,PHENOTYPE_2724
2725,2725,2725,2725,2725,2725,2725,2725,2340,Caudate atrophy,HPO,phenotype,PHENOTYPE_2725
2726,2726,2726,2726,2726,2726,2726,2726,12492,Cerebral artery stenosis,HPO,phenotype,PHENOTYPE_2726
2727,2727,2727,2727,2727,2727,2727,2727,12524,Abnormal platelet shape,HPO,phenotype,PHENOTYPE_2727
2728,2728,2728,2728,2728,2728,2728,2728,25258,Stiff neck,HPO,phenotype,PHENOTYPE_2728
2729,2729,2729,2729,2729,2729,2729,2729,6633,Glenoid fossa hypoplasia,HPO,phenotype,PHENOTYPE_2729
2730,2730,2730,2730,2730,2730,2730,2730,34601,Decreased circulating C1q concentration,HPO,phenotype,PHENOTYPE_2730
2731,2731,2731,2731,2731,2731,2731,2731,7067,Distal peripheral sensory neuropathy,HPO,phenotype,PHENOTYPE_2731
2732,2732,2732,2732,2732,2732,2732,2732,8656,Incomplete male pseudohermaphroditism,HPO,phenotype,PHENOTYPE_2732
2733,2733,2733,2733,2733,2733,2733,2733,1738,Exocrine pancreatic insufficiency,HPO,phenotype,PHENOTYPE_2733
2734,2734,2734,2734,2734,2734,2734,2734,25691,Impaired fasting glucose,HPO,phenotype,PHENOTYPE_2734
2735,2735,2735,2735,2735,2735,2735,2735,6000152,Adrenocortical hyperplasia,HPO,phenotype,PHENOTYPE_2735
2736,2736,2736,2736,2736,2736,2736,2736,1166,Arachnodactyly,HPO,phenotype,PHENOTYPE_2736
2737,2737,2737,2737,2737,2737,2737,2737,32743,Focal aware emotional seizure with crying,HPO,phenotype,PHENOTYPE_2737
2738,2738,2738,2738,2738,2738,2738,2738,2963,Abnormal delayed hypersensitivity skin test,HPO,phenotype,PHENOTYPE_2738
2739,2739,2739,2739,2739,2739,2739,2739,9591,Abnorma vestibulocochlear nerve morphology,HPO,phenotype,PHENOTYPE_2739
2740,2740,2740,2740,2740,2740,2740,2740,40322,Purple urine,HPO,phenotype,PHENOTYPE_2740
2741,2741,2741,2741,2741,2741,2741,2741,8447,Hypoplastic coccygeal vertebrae,HPO,phenotype,PHENOTYPE_2741
2742,2742,2742,2742,2742,2742,2742,2742,430110,Positive bloodstream Cysticercosis antigen test,HPO,phenotype,PHENOTYPE_2742
2743,2743,2743,2743,2743,2743,2743,2743,752,Hyperactivity,HPO,phenotype,PHENOTYPE_2743
2744,2744,2744,2744,2744,2744,2744,2744,11086,Dentinogenesis imperfecta of primary and permanent teeth,HPO,phenotype,PHENOTYPE_2744
2745,2745,2745,2745,2745,2745,2745,2745,6350,Pulp obliteration,HPO,phenotype,PHENOTYPE_2745
2746,2746,2746,2746,2746,2746,2746,2746,6000719,Reduced tissue type II iodothyronine deiodinase activity,HPO,phenotype,PHENOTYPE_2746
2747,2747,2747,2747,2747,2747,2747,2747,5320,Lack of facial subcutaneous fat,HPO,phenotype,PHENOTYPE_2747
2748,2748,2748,2748,2748,2748,2748,2748,6000907,Positive bloodstream Borrelia miyamotoi nucleic acid test,HPO,phenotype,PHENOTYPE_2748
2749,2749,2749,2749,2749,2749,2749,2749,4000165,Decreased circulating plasmalogen concentration,HPO,phenotype,PHENOTYPE_2749
2750,2750,2750,2750,2750,2750,2750,2750,32470,Monilethrix,HPO,phenotype,PHENOTYPE_2750
2751,2751,2751,2751,2751,2751,2751,2751,31629,Impaired tandem gait,HPO,phenotype,PHENOTYPE_2751
2752,2752,2752,2752,2752,2752,2752,2752,3513,Reduced ratio of renal calcium clearance to creatinine clearance,HPO,phenotype,PHENOTYPE_2752
2753,2753,2753,2753,2753,2753,2753,2753,25211,Triggered by ethanol ingestion,HPO,phenotype,PHENOTYPE_2753
2754,2754,2754,2754,2754,2754,2754,2754,30862,Elevated CSF amyloid concentration,HPO,phenotype,PHENOTYPE_2754
2755,2755,2755,2755,2755,2755,2755,2755,410217,Reduced blood 5-methyltetrahydrofolate level,HPO,phenotype,PHENOTYPE_2755
2756,2756,2756,2756,2756,2756,2756,2756,5661,Salmonella osteomyelitis,HPO,phenotype,PHENOTYPE_2756
2757,2757,2757,2757,2757,2757,2757,2757,1335,Bimanual synkinesia,HPO,phenotype,PHENOTYPE_2757
2758,2758,2758,2758,2758,2758,2758,2758,12782,Perilobar nephrogenic rest,HPO,phenotype,PHENOTYPE_2758
2759,2759,2759,2759,2759,2759,2759,2759,33341,Elevated circulating sitosterol concentration,HPO,phenotype,PHENOTYPE_2759
2760,2760,2760,2760,2760,2760,2760,2760,684,Delayed eruption of teeth,HPO,phenotype,PHENOTYPE_2760
2761,2761,2761,2761,2761,2761,2761,2761,3489,Acute episodes of neuropathic symptoms,HPO,phenotype,PHENOTYPE_2761
2762,2762,2762,2762,2762,2762,2762,2762,2898,Embryonal neoplasm,HPO,phenotype,PHENOTYPE_2762
2763,2763,2763,2763,2763,2763,2763,2763,100276,Skin pit,HPO,phenotype,PHENOTYPE_2763
2764,2764,2764,2764,2764,2764,2764,2764,410064,Increased level of galactitol in red blood cells,HPO,phenotype,PHENOTYPE_2764
2765,2765,2765,2765,2765,2765,2765,2765,25143,Chills,HPO,phenotype,PHENOTYPE_2765
2766,2766,2766,2766,2766,2766,2766,2766,25253,Claustrophobia,HPO,phenotype,PHENOTYPE_2766
2767,2767,2767,2767,2767,2767,2767,2767,7536,Aplasia cutis congenita of midline scalp vertex,HPO,phenotype,PHENOTYPE_2767
2768,2768,2768,2768,2768,2768,2768,2768,6000036,Long telomere length,HPO,phenotype,PHENOTYPE_2768
2769,2769,2769,2769,2769,2769,2769,2769,11040,Abnormal intrahepatic bile duct morphology,HPO,phenotype,PHENOTYPE_2769
2770,2770,2770,2770,2770,2770,2770,2770,6304,Widely-spaced incisors,HPO,phenotype,PHENOTYPE_2770
2771,2771,2771,2771,2771,2771,2771,2771,6338,Malformation of mandibular premolar,HPO,phenotype,PHENOTYPE_2771
2772,2772,2772,2772,2772,2772,2772,2772,6001035,Tubular jejunal duplication,HPO,phenotype,PHENOTYPE_2772
2773,2773,2773,2773,2773,2773,2773,2773,33757,Pancreatic steatosis,HPO,phenotype,PHENOTYPE_2773
2774,2774,2774,2774,2774,2774,2774,2774,32898,Focal automatism seizure,HPO,phenotype,PHENOTYPE_2774
2775,2775,2775,2775,2775,2775,2775,2775,9756,Popliteal pterygium,HPO,phenotype,PHENOTYPE_2775
2776,2776,2776,2776,2776,2776,2776,2776,5914,Aplasia/Hypoplasia involving the metacarpal bones,HPO,phenotype,PHENOTYPE_2776
2777,2777,2777,2777,2777,2777,2777,2777,9463,Ulnar deviation of the 3rd finger,HPO,phenotype,PHENOTYPE_2777
2778,2778,2778,2778,2778,2778,2778,2778,30992,Abnormal pancreatic duct morphology,HPO,phenotype,PHENOTYPE_2778
2779,2779,2779,2779,2779,2779,2779,2779,676,Abnormality of the incisor,HPO,phenotype,PHENOTYPE_2779
2780,2780,2780,2780,2780,2780,2780,2780,30275,Ectopic scrotum,HPO,phenotype,PHENOTYPE_2780
2781,2781,2781,2781,2781,2781,2781,2781,11725,Chaotic multifocal atrial tachycardia,HPO,phenotype,PHENOTYPE_2781
2782,2782,2782,2782,2782,2782,2782,2782,30608,Increased OCT-measured macular thickness,HPO,phenotype,PHENOTYPE_2782
2783,2783,2783,2783,2783,2783,2783,2783,9609,Duplication of the 1st metacarpal,HPO,phenotype,PHENOTYPE_2783
2784,2784,2784,2784,2784,2784,2784,2784,40103,Cutaneous stenosis of the external auditory canal,HPO,phenotype,PHENOTYPE_2784
2785,2785,2785,2785,2785,2785,2785,2785,6000731,Positive chlamydia trachomatis urine nucleic acid test,HPO,phenotype,PHENOTYPE_2785
2786,2786,2786,2786,2786,2786,2786,2786,6000729,Positive CSF fungus test,HPO,phenotype,PHENOTYPE_2786
2787,2787,2787,2787,2787,2787,2787,2787,8202,Reduced circulating prolactin concentration,HPO,phenotype,PHENOTYPE_2787
2788,2788,2788,2788,2788,2788,2788,2788,8222,Female infertility,HPO,phenotype,PHENOTYPE_2788
2789,2789,2789,2789,2789,2789,2789,2789,6000824,Cerebrospinal fluid eosinophilia,HPO,phenotype,PHENOTYPE_2789
2790,2790,2790,2790,2790,2790,2790,2790,4000119,Calcium channel blocker exposure,HPO,phenotype,PHENOTYPE_2790
2791,2791,2791,2791,2791,2791,2791,2791,2947,Cervical kyphosis,HPO,phenotype,PHENOTYPE_2791
2792,2792,2792,2792,2792,2792,2792,2792,1924,Sideroblastic anemia,HPO,phenotype,PHENOTYPE_2792
2793,2793,2793,2793,2793,2793,2793,2793,40139,Lipogranulomatosis,HPO,phenotype,PHENOTYPE_2793
2794,2794,2794,2794,2794,2794,2794,2794,32524,Long thumb,HPO,phenotype,PHENOTYPE_2794
2795,2795,2795,2795,2795,2795,2795,2795,6001065,Hair shaft lesion,HPO,phenotype,PHENOTYPE_2795
2796,2796,2796,2796,2796,2796,2796,2796,4856,Normochromic microcytic anemia,HPO,phenotype,PHENOTYPE_2796
2797,2797,2797,2797,2797,2797,2797,2797,12506,Small pituitary gland,HPO,phenotype,PHENOTYPE_2797
2798,2798,2798,2798,2798,2798,2798,2798,64,Hypoplastic labia minora,HPO,phenotype,PHENOTYPE_2798
2799,2799,2799,2799,2799,2799,2799,2799,12509,Reduced thyroxin-binding globulin,HPO,phenotype,PHENOTYPE_2799
2800,2800,2800,2800,2800,2800,2800,2800,12732,Anorectal anomaly,HPO,phenotype,PHENOTYPE_2800
2801,2801,2801,2801,2801,2801,2801,2801,32226,Abnormal sebaceous gland morphology,HPO,phenotype,PHENOTYPE_2801
2802,2802,2802,2802,2802,2802,2802,2802,25237,Confusional arousal,HPO,phenotype,PHENOTYPE_2802
2803,2803,2803,2803,2803,2803,2803,2803,430030,Positive infectious agent test,HPO,phenotype,PHENOTYPE_2803
2804,2804,2804,2804,2804,2804,2804,2804,30057,Autoimmune antibody positivity,HPO,phenotype,PHENOTYPE_2804
2805,2805,2805,2805,2805,2805,2805,2805,3955,Bone-in-a-bone appearance of forearm,HPO,phenotype,PHENOTYPE_2805
2806,2806,2806,2806,2806,2806,2806,2806,430028,Hyperplasia of the maxilla,HPO,phenotype,PHENOTYPE_2806
2807,2807,2807,2807,2807,2807,2807,2807,31860,Abnormal heart rate variability,HPO,phenotype,PHENOTYPE_2807
2808,2808,2808,2808,2808,2808,2808,2808,6000514,Reduced erythrocyte uroporphyrinogen III cosynthase activity,HPO,phenotype,PHENOTYPE_2808
2809,2809,2809,2809,2809,2809,2809,2809,6000805,Elevated urinary uroporphyrin level,HPO,phenotype,PHENOTYPE_2809
2810,2810,2810,2810,2810,2810,2810,2810,12327,Celiac artery compression,HPO,phenotype,PHENOTYPE_2810
2811,2811,2811,2811,2811,2811,2811,2811,9210,Pseudoepiphysis of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_2811
2812,2812,2812,2812,2812,2812,2812,2812,3068,Madelung-like forearm deformities,HPO,phenotype,PHENOTYPE_2812
2813,2813,2813,2813,2813,2813,2813,2813,10661,Absence of the third cerebral ventricle,HPO,phenotype,PHENOTYPE_2813
2814,2814,2814,2814,2814,2814,2814,2814,34010,Increased megakaryocyte colony forming unit count,HPO,phenotype,PHENOTYPE_2814
2815,2815,2815,2815,2815,2815,2815,2815,11985,Acholic stools,HPO,phenotype,PHENOTYPE_2815
2816,2816,2816,2816,2816,2816,2816,2816,34945,Tubular shadows,HPO,phenotype,PHENOTYPE_2816
2817,2817,2817,2817,2817,2817,2817,2817,34683,Reduced muscle telethonin level,HPO,phenotype,PHENOTYPE_2817
2818,2818,2818,2818,2818,2818,2818,2818,500194,Decreased CSF isoleucine concentration,HPO,phenotype,PHENOTYPE_2818
2819,2819,2819,2819,2819,2819,2819,2819,32841,Neonatal bilateral asymmetric epileptic spasm,HPO,phenotype,PHENOTYPE_2819
2820,2820,2820,2820,2820,2820,2820,2820,100194,Enlarged epiphysis of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_2820
2821,2821,2821,2821,2821,2821,2821,2821,3328,Abnormal hairshaft morphology,HPO,phenotype,PHENOTYPE_2821
2822,2822,2822,2822,2822,2822,2822,2822,31820,Decreased waist to hip ratio,HPO,phenotype,PHENOTYPE_2822
2823,2823,2823,2823,2823,2823,2823,2823,8687,Hypoplasia of the prostate,HPO,phenotype,PHENOTYPE_2823
2824,2824,2824,2824,2824,2824,2824,2824,32733,Focal aware motor seizure with dysarthria/anarthria,HPO,phenotype,PHENOTYPE_2824
2825,2825,2825,2825,2825,2825,2825,2825,100840,Aplasia/Hypoplasia of the eyebrow,HPO,phenotype,PHENOTYPE_2825
2826,2826,2826,2826,2826,2826,2826,2826,3900,Small humeral epiphyses,HPO,phenotype,PHENOTYPE_2826
2827,2827,2827,2827,2827,2827,2827,2827,1254,Lethargy,HPO,phenotype,PHENOTYPE_2827
2828,2828,2828,2828,2828,2828,2828,2828,34694,Substantia nigra dopaminergic neuron loss,HPO,phenotype,PHENOTYPE_2828
2829,2829,2829,2829,2829,2829,2829,2829,32723,Focal aware motor seizure with dystonia,HPO,phenotype,PHENOTYPE_2829
2830,2830,2830,2830,2830,2830,2830,2830,32325,Lacunar stroke,HPO,phenotype,PHENOTYPE_2830
2831,2831,2831,2831,2831,2831,2831,2831,33440,Elevated circulating octenoylcarnitine concentration,HPO,phenotype,PHENOTYPE_2831
2832,2832,2832,2832,2832,2832,2832,2832,41152,Fractured sternoclavicular joint,HPO,phenotype,PHENOTYPE_2832
2833,2833,2833,2833,2833,2833,2833,2833,1943,Hypoglycemia,HPO,phenotype,PHENOTYPE_2833
2834,2834,2834,2834,2834,2834,2834,2834,6000831,Increased circulating dihydroxycholestanoic acid concentration,HPO,phenotype,PHENOTYPE_2834
2835,2835,2835,2835,2835,2835,2835,2835,922,Posterior rib cupping,HPO,phenotype,PHENOTYPE_2835
2836,2836,2836,2836,2836,2836,2836,2836,2783,Recurrent lower respiratory tract infections,HPO,phenotype,PHENOTYPE_2836
2837,2837,2837,2837,2837,2837,2837,2837,30939,Palpebral thickening,HPO,phenotype,PHENOTYPE_2837
2838,2838,2838,2838,2838,2838,2838,2838,11738,Corticotropin-releasing hormone receptor defect,HPO,phenotype,PHENOTYPE_2838
2839,2839,2839,2839,2839,2839,2839,2839,11277,Abnormality of the urinary system physiology,HPO,phenotype,PHENOTYPE_2839
2840,2840,2840,2840,2840,2840,2840,2840,11681,Subarterial ventricular septal defect,HPO,phenotype,PHENOTYPE_2840
2841,2841,2841,2841,2841,2841,2841,2841,3228,Hypernatremia,HPO,phenotype,PHENOTYPE_2841
2842,2842,2842,2842,2842,2842,2842,2842,33073,Urate tophus,HPO,phenotype,PHENOTYPE_2842
2843,2843,2843,2843,2843,2843,2843,2843,10451,Aplasia/Hypoplasia of the spleen,HPO,phenotype,PHENOTYPE_2843
2844,2844,2844,2844,2844,2844,2844,2844,32627,Intratubular leukocyte casts,HPO,phenotype,PHENOTYPE_2844
2845,2845,2845,2845,2845,2845,2845,2845,6659,Internally rotated shoulders,HPO,phenotype,PHENOTYPE_2845
2846,2846,2846,2846,2846,2846,2846,2846,6000983,History of aortic valve replacement,HPO,phenotype,PHENOTYPE_2846
2847,2847,2847,2847,2847,2847,2847,2847,10068,Broad first metatarsal,HPO,phenotype,PHENOTYPE_2847
2848,2848,2848,2848,2848,2848,2848,2848,6000944,Carotidynia,HPO,phenotype,PHENOTYPE_2848
2849,2849,2849,2849,2849,2849,2849,2849,6524,Tracheobronchial leiomyomatosis,HPO,phenotype,PHENOTYPE_2849
2850,2850,2850,2850,2850,2850,2850,2850,849,Adrenocortical abnormality,HPO,phenotype,PHENOTYPE_2850
2851,2851,2851,2851,2851,2851,2851,2851,100376,Aplasia/hypoplasia of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_2851
2852,2852,2852,2852,2852,2852,2852,2852,25398,Nodular-perilymphatic pattern on pulmonary HRCT,HPO,phenotype,PHENOTYPE_2852
2853,2853,2853,2853,2853,2853,2853,2853,7325,Generalized dystonia,HPO,phenotype,PHENOTYPE_2853
2854,2854,2854,2854,2854,2854,2854,2854,5200294,Sexsomnia,HPO,phenotype,PHENOTYPE_2854
2855,2855,2855,2855,2855,2855,2855,2855,11392,Abnormality of the vestibular nerve,HPO,phenotype,PHENOTYPE_2855
2856,2856,2856,2856,2856,2856,2856,2856,9696,Triangular epiphyses of the thumb,HPO,phenotype,PHENOTYPE_2856
2857,2857,2857,2857,2857,2857,2857,2857,32533,Elevated circulating acetone concentration,HPO,phenotype,PHENOTYPE_2857
2858,2858,2858,2858,2858,2858,2858,2858,32025,Reduced circulating alpha-1-antitrypsin concentration,HPO,phenotype,PHENOTYPE_2858
2859,2859,2859,2859,2859,2859,2859,2859,45039,Osteolysis involving bones of the upper limbs,HPO,phenotype,PHENOTYPE_2859
2860,2860,2860,2860,2860,2860,2860,2860,4232,Accessory carpal bones,HPO,phenotype,PHENOTYPE_2860
2861,2861,2861,2861,2861,2861,2861,2861,12526,Absence of alpha granules,HPO,phenotype,PHENOTYPE_2861
2862,2862,2862,2862,2862,2862,2862,2862,34372,Internal tibial torsion,HPO,phenotype,PHENOTYPE_2862
2863,2863,2863,2863,2863,2863,2863,2863,11778,Thyroid atypical adenoma,HPO,phenotype,PHENOTYPE_2863
2864,2864,2864,2864,2864,2864,2864,2864,11574,Imperforate atrioventricular valve,HPO,phenotype,PHENOTYPE_2864
2865,2865,2865,2865,2865,2865,2865,2865,6000450,Rokitansky-Aschoff gallbladder sinuses,HPO,phenotype,PHENOTYPE_2865
2866,2866,2866,2866,2866,2866,2866,2866,30919,Low 5-minute APGAR score,HPO,phenotype,PHENOTYPE_2866
2867,2867,2867,2867,2867,2867,2867,2867,25178,Subpleural interstitial thickening,HPO,phenotype,PHENOTYPE_2867
2868,2868,2868,2868,2868,2868,2868,2868,10845,EEG with generalized slow activity,HPO,phenotype,PHENOTYPE_2868
2869,2869,2869,2869,2869,2869,2869,2869,30670,Hamartoma of the orbital region,HPO,phenotype,PHENOTYPE_2869
2870,2870,2870,2870,2870,2870,2870,2870,2519,Hypnagogic hallucination,HPO,phenotype,PHENOTYPE_2870
2871,2871,2871,2871,2871,2871,2871,2871,10088,Curved proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_2871
2872,2872,2872,2872,2872,2872,2872,2872,32854,Focal aware hemifacial clonic seizure,HPO,phenotype,PHENOTYPE_2872
2873,2873,2873,2873,2873,2873,2873,2873,3000023,Abnormality of angular artery,HPO,phenotype,PHENOTYPE_2873
2874,2874,2874,2874,2874,2874,2874,2874,3574,Positive regitine blocking test,HPO,phenotype,PHENOTYPE_2874
2875,2875,2875,2875,2875,2875,2875,2875,6000779,Osteoporotic femoral neck,HPO,phenotype,PHENOTYPE_2875
2876,2876,2876,2876,2876,2876,2876,2876,8784,Wide capital femoral epiphyses,HPO,phenotype,PHENOTYPE_2876
2877,2877,2877,2877,2877,2877,2877,2877,410273,Retropharyngeal hemangioma,HPO,phenotype,PHENOTYPE_2877
2878,2878,2878,2878,2878,2878,2878,2878,6001156,Synovial crystals,HPO,phenotype,PHENOTYPE_2878
2879,2879,2879,2879,2879,2879,2879,2879,4000089,Abnormal quality of facial expression,HPO,phenotype,PHENOTYPE_2879
2880,2880,2880,2880,2880,2880,2880,2880,3760,Percussion-induced rapid rolling muscle contractions,HPO,phenotype,PHENOTYPE_2880
2881,2881,2881,2881,2881,2881,2881,2881,12799,Unilateral facial palsy,HPO,phenotype,PHENOTYPE_2881
2882,2882,2882,2882,2882,2882,2882,2882,100095,Abnormality of the epiphysis of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_2882
2883,2883,2883,2883,2883,2883,2883,2883,30031,Small toe,HPO,phenotype,PHENOTYPE_2883
2884,2884,2884,2884,2884,2884,2884,2884,12844,Trichilemmoma,HPO,phenotype,PHENOTYPE_2884
2885,2885,2885,2885,2885,2885,2885,2885,20279,Irregular lymph-node lymphocyte nuclei,HPO,phenotype,PHENOTYPE_2885
2886,2886,2886,2886,2886,2886,2886,2886,40135,Abnormal transferrin saturation,HPO,phenotype,PHENOTYPE_2886
2887,2887,2887,2887,2887,2887,2887,2887,12451,Acute constipation,HPO,phenotype,PHENOTYPE_2887
2888,2888,2888,2888,2888,2888,2888,2888,5217,Abdominal organ duplication,HPO,phenotype,PHENOTYPE_2888
2889,2889,2889,2889,2889,2889,2889,2889,7200,Episodic hypersomnia,HPO,phenotype,PHENOTYPE_2889
2890,2890,2890,2890,2890,2890,2890,2890,4241,Stippled calcification in carpal bones,HPO,phenotype,PHENOTYPE_2890
2891,2891,2891,2891,2891,2891,2891,2891,207,Triangular mouth,HPO,phenotype,PHENOTYPE_2891
2892,2892,2892,2892,2892,2892,2892,2892,12204,Recurrent vulvovaginal candidiasis,HPO,phenotype,PHENOTYPE_2892
2893,2893,2893,2893,2893,2893,2893,2893,6000239,Elevated circulating tumor necrosis factor alpha concentration,HPO,phenotype,PHENOTYPE_2893
2894,2894,2894,2894,2894,2894,2894,2894,30361,Abnormal circulating eicosanoid concentration,HPO,phenotype,PHENOTYPE_2894
2895,2895,2895,2895,2895,2895,2895,2895,1605,Vocal cord paralysis,HPO,phenotype,PHENOTYPE_2895
2896,2896,2896,2896,2896,2896,2896,2896,10911,Hyperleucinemia,HPO,phenotype,PHENOTYPE_2896
2897,2897,2897,2897,2897,2897,2897,2897,10347,Aplasia/Hypoplasia of the phalanges of the 2nd toe,HPO,phenotype,PHENOTYPE_2897
2898,2898,2898,2898,2898,2898,2898,2898,9123,Mixed hypo- and hyperpigmentation of the skin,HPO,phenotype,PHENOTYPE_2898
2899,2899,2899,2899,2899,2899,2899,2899,32511,Superiorly positioned umbilicus,HPO,phenotype,PHENOTYPE_2899
2900,2900,2900,2900,2900,2900,2900,2900,31173,Tibial spur,HPO,phenotype,PHENOTYPE_2900
2901,2901,2901,2901,2901,2901,2901,2901,794,IgA deposition in the glomerulus,HPO,phenotype,PHENOTYPE_2901
2902,2902,2902,2902,2902,2902,2902,2902,33467,Low 10-minute APGAR score,HPO,phenotype,PHENOTYPE_2902
2903,2903,2903,2903,2903,2903,2903,2903,30447,Merkel cell skin cancer,HPO,phenotype,PHENOTYPE_2903
2904,2904,2904,2904,2904,2904,2904,2904,32385,Abnormal circulating transferrin concentration,HPO,phenotype,PHENOTYPE_2904
2905,2905,2905,2905,2905,2905,2905,2905,3000007,Abnormality of mentalis muscle,HPO,phenotype,PHENOTYPE_2905
2906,2906,2906,2906,2906,2906,2906,2906,4510,Pancreatic islet-cell hyperplasia,HPO,phenotype,PHENOTYPE_2906
2907,2907,2907,2907,2907,2907,2907,2907,32505,Hydrophobia,HPO,phenotype,PHENOTYPE_2907
2908,2908,2908,2908,2908,2908,2908,2908,6001122,Multiple-finger involvement,HPO,phenotype,PHENOTYPE_2908
2909,2909,2909,2909,2909,2909,2909,2909,33006,Diffuse alveolar damage,HPO,phenotype,PHENOTYPE_2909
2910,2910,2910,2910,2910,2910,2910,2910,30999,Abnormal vestibular saccule morphology,HPO,phenotype,PHENOTYPE_2910
2911,2911,2911,2911,2911,2911,2911,2911,5368,Abnormality of humoral immunity,HPO,phenotype,PHENOTYPE_2911
2912,2912,2912,2912,2912,2912,2912,2912,5025,Hypoplastic distal humeri,HPO,phenotype,PHENOTYPE_2912
2913,2913,2913,2913,2913,2913,2913,2913,100422,Partial duplication of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_2913
2914,2914,2914,2914,2914,2914,2914,2914,8663,Renal sarcoma,HPO,phenotype,PHENOTYPE_2914
2915,2915,2915,2915,2915,2915,2915,2915,9318,Aplasia/Hypoplasia of the 3rd finger,HPO,phenotype,PHENOTYPE_2915
2916,2916,2916,2916,2916,2916,2916,2916,30718,Right atrial enlargement,HPO,phenotype,PHENOTYPE_2916
2917,2917,2917,2917,2917,2917,2917,2917,4722,Thickened glomerular basement membrane,HPO,phenotype,PHENOTYPE_2917
2918,2918,2918,2918,2918,2918,2918,2918,4000197,Reduced N-acetylgalactosamine-6-sulfatase in cultured fibroblasts,HPO,phenotype,PHENOTYPE_2918
2919,2919,2919,2919,2919,2919,2919,2919,7387,Hypoplastic sweat glands,HPO,phenotype,PHENOTYPE_2919
2920,2920,2920,2920,2920,2920,2920,2920,3237,Increased circulating IgG concentration,HPO,phenotype,PHENOTYPE_2920
2921,2921,2921,2921,2921,2921,2921,2921,6000218,Reduced circulating xanthine oxidase activity,HPO,phenotype,PHENOTYPE_2921
2922,2922,2922,2922,2922,2922,2922,2922,1238,Slender finger,HPO,phenotype,PHENOTYPE_2922
2923,2923,2923,2923,2923,2923,2923,2923,8057,Aplasia/Hypoplasia affecting the fundus,HPO,phenotype,PHENOTYPE_2923
2924,2924,2924,2924,2924,2924,2924,2924,2292,Frontal balding,HPO,phenotype,PHENOTYPE_2924
2925,2925,2925,2925,2925,2925,2925,2925,100277,Periauricular skin pits,HPO,phenotype,PHENOTYPE_2925
2926,2926,2926,2926,2926,2926,2926,2926,4392,Prune belly,HPO,phenotype,PHENOTYPE_2926
2927,2927,2927,2927,2927,2927,2927,2927,30416,Vulvar neoplasm,HPO,phenotype,PHENOTYPE_2927
2928,2928,2928,2928,2928,2928,2928,2928,34323,Reduced circulating growth hormone concentration,HPO,phenotype,PHENOTYPE_2928
2929,2929,2929,2929,2929,2929,2929,2929,31021,Squamous Papilloma,HPO,phenotype,PHENOTYPE_2929
2930,2930,2930,2930,2930,2930,2930,2930,100393,Short middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_2930
2931,2931,2931,2931,2931,2931,2931,2931,3173,Hypoplastic pubic bone,HPO,phenotype,PHENOTYPE_2931
2932,2932,2932,2932,2932,2932,2932,2932,12108,Open angle glaucoma,HPO,phenotype,PHENOTYPE_2932
2933,2933,2933,2933,2933,2933,2933,2933,31765,Partially accomodative esotropia,HPO,phenotype,PHENOTYPE_2933
2934,2934,2934,2934,2934,2934,2934,2934,2296,Progressive hypotrichosis,HPO,phenotype,PHENOTYPE_2934
2935,2935,2935,2935,2935,2935,2935,2935,100906,Sclerosis of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_2935
2936,2936,2936,2936,2936,2936,2936,2936,25041,Thalamic calcification,HPO,phenotype,PHENOTYPE_2936
2937,2937,2937,2937,2937,2937,2937,2937,1155,Abnormality of the hand,HPO,phenotype,PHENOTYPE_2937
2938,2938,2938,2938,2938,2938,2938,2938,9309,Triangular shaped middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_2938
2939,2939,2939,2939,2939,2939,2939,2939,40247,Reduced euglobulin clot lysis time,HPO,phenotype,PHENOTYPE_2939
2940,2940,2940,2940,2940,2940,2940,2940,33141,Severe SARS-CoV-2 infection,HPO,phenotype,PHENOTYPE_2940
2941,2941,2941,2941,2941,2941,2941,2941,34075,Decreased circulating apolipoprotein B concentration,HPO,phenotype,PHENOTYPE_2941
2942,2942,2942,2942,2942,2942,2942,2942,6000386,Positive cold agglutinin test,HPO,phenotype,PHENOTYPE_2942
2943,2943,2943,2943,2943,2943,2943,2943,34486,Reduced circulating interleukin 7 concentration,HPO,phenotype,PHENOTYPE_2943
2944,2944,2944,2944,2944,2944,2944,2944,32939,Physiological reactivity to cues,HPO,phenotype,PHENOTYPE_2944
2945,2945,2945,2945,2945,2945,2945,2945,6000087,Penile swelling,HPO,phenotype,PHENOTYPE_2945
2946,2946,2946,2946,2946,2946,2946,2946,32591,Renal interstitial hemosiderin,HPO,phenotype,PHENOTYPE_2946
2947,2947,2947,2947,2947,2947,2947,2947,200096,Triangular-shaped open mouth,HPO,phenotype,PHENOTYPE_2947
2948,2948,2948,2948,2948,2948,2948,2948,25139,Increased serum estrone,HPO,phenotype,PHENOTYPE_2948
2949,2949,2949,2949,2949,2949,2949,2949,30106,Absent muscle fiber beta sarcoglycan,HPO,phenotype,PHENOTYPE_2949
2950,2950,2950,2950,2950,2950,2950,2950,4000152,Alternating laterality,HPO,phenotype,PHENOTYPE_2950
2951,2951,2951,2951,2951,2951,2951,2951,100519,Anuria,HPO,phenotype,PHENOTYPE_2951
2952,2952,2952,2952,2952,2952,2952,2952,552,Tritanomaly,HPO,phenotype,PHENOTYPE_2952
2953,2953,2953,2953,2953,2953,2953,2953,34753,Positive Murphy sign,HPO,phenotype,PHENOTYPE_2953
2954,2954,2954,2954,2954,2954,2954,2954,3048,Radial head subluxation,HPO,phenotype,PHENOTYPE_2954
2955,2955,2955,2955,2955,2955,2955,2955,4625,Biconvex vertebral bodies,HPO,phenotype,PHENOTYPE_2955
2956,2956,2956,2956,2956,2956,2956,2956,30837,Finger pain,HPO,phenotype,PHENOTYPE_2956
2957,2957,2957,2957,2957,2957,2957,2957,4365,Abnormal circulating tryptophan concentration,HPO,phenotype,PHENOTYPE_2957
2958,2958,2958,2958,2958,2958,2958,2958,10530,Palatal tremor,HPO,phenotype,PHENOTYPE_2958
2959,2959,2959,2959,2959,2959,2959,2959,5009,Dumbbell-shaped humerus,HPO,phenotype,PHENOTYPE_2959
2960,2960,2960,2960,2960,2960,2960,2960,30430,Neuroma,HPO,phenotype,PHENOTYPE_2960
2961,2961,2961,2961,2961,2961,2961,2961,1612,Weak cry,HPO,phenotype,PHENOTYPE_2961
2962,2962,2962,2962,2962,2962,2962,2962,12244,Abnormal sex determination,HPO,phenotype,PHENOTYPE_2962
2963,2963,2963,2963,2963,2963,2963,2963,30252,Absent circulating B cells,HPO,phenotype,PHENOTYPE_2963
2964,2964,2964,2964,2964,2964,2964,2964,3000043,Abnormal facial vein morphology,HPO,phenotype,PHENOTYPE_2964
2965,2965,2965,2965,2965,2965,2965,2965,4000138,Absent cavum septum pellucidum,HPO,phenotype,PHENOTYPE_2965
2966,2966,2966,2966,2966,2966,2966,2966,100280,Crohn's disease,HPO,phenotype,PHENOTYPE_2966
2967,2967,2967,2967,2967,2967,2967,2967,4557,Anterior vertebral fusion,HPO,phenotype,PHENOTYPE_2967
2968,2968,2968,2968,2968,2968,2968,2968,9590,Unilateral vestibular schwannoma,HPO,phenotype,PHENOTYPE_2968
2969,2969,2969,2969,2969,2969,2969,2969,5200001,Selective mutism,HPO,phenotype,PHENOTYPE_2969
2970,2970,2970,2970,2970,2970,2970,2970,33734,High-grade vesicoureteral reflux,HPO,phenotype,PHENOTYPE_2970
2971,2971,2971,2971,2971,2971,2971,2971,2945,Intervertebral space narrowing,HPO,phenotype,PHENOTYPE_2971
2972,2972,2972,2972,2972,2972,2972,2972,410205,Abnormal circulating nicotinurate concentration,HPO,phenotype,PHENOTYPE_2972
2973,2973,2973,2973,2973,2973,2973,2973,11550,Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection,HPO,phenotype,PHENOTYPE_2973
2974,2974,2974,2974,2974,2974,2974,2974,4025,Spurred radial metaphysis,HPO,phenotype,PHENOTYPE_2974
2975,2975,2975,2975,2975,2975,2975,2975,33004,Palmar warts,HPO,phenotype,PHENOTYPE_2975
2976,2976,2976,2976,2976,2976,2976,2976,3099,Fibular overgrowth,HPO,phenotype,PHENOTYPE_2976
2977,2977,2977,2977,2977,2977,2977,2977,756,Agoraphobia,HPO,phenotype,PHENOTYPE_2977
2978,2978,2978,2978,2978,2978,2978,2978,5210,Hypoplastic colon,HPO,phenotype,PHENOTYPE_2978
2979,2979,2979,2979,2979,2979,2979,2979,20222,Hypohomocysteinemia,HPO,phenotype,PHENOTYPE_2979
2980,2980,2980,2980,2980,2980,2980,2980,33783,Molar incisor malformation,HPO,phenotype,PHENOTYPE_2980
2981,2981,2981,2981,2981,2981,2981,2981,1401,Intrahepatic biliary dysgenesis,HPO,phenotype,PHENOTYPE_2981
2982,2982,2982,2982,2982,2982,2982,2982,1407,Hepatic cysts,HPO,phenotype,PHENOTYPE_2982
2983,2983,2983,2983,2983,2983,2983,2983,11095,Overjet,HPO,phenotype,PHENOTYPE_2983
2984,2984,2984,2984,2984,2984,2984,2984,11921,Exudative pleural effusion,HPO,phenotype,PHENOTYPE_2984
2985,2985,2985,2985,2985,2985,2985,2985,31853,Isomerism,HPO,phenotype,PHENOTYPE_2985
2986,2986,2986,2986,2986,2986,2986,2986,45053,Abnormality of the lumbosacral nerve plexus,HPO,phenotype,PHENOTYPE_2986
2987,2987,2987,2987,2987,2987,2987,2987,500218,Abnormal CSF tryptophan concentration,HPO,phenotype,PHENOTYPE_2987
2988,2988,2988,2988,2988,2988,2988,2988,6673,Reduced systolic function,HPO,phenotype,PHENOTYPE_2988
2989,2989,2989,2989,2989,2989,2989,2989,430083,Anti-arbovirus antibody positivity,HPO,phenotype,PHENOTYPE_2989
2990,2990,2990,2990,2990,2990,2990,2990,1446,Abnormality of the musculature of the upper limbs,HPO,phenotype,PHENOTYPE_2990
2991,2991,2991,2991,2991,2991,2991,2991,7803,Monochromacy,HPO,phenotype,PHENOTYPE_2991
2992,2992,2992,2992,2992,2992,2992,2992,11573,Hypoplastic tricuspid valve,HPO,phenotype,PHENOTYPE_2992
2993,2993,2993,2993,2993,2993,2993,2993,11954,Nodular regenerative hyperplasia of liver,HPO,phenotype,PHENOTYPE_2993
2994,2994,2994,2994,2994,2994,2994,2994,10144,Ivory epiphysis of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_2994
2995,2995,2995,2995,2995,2995,2995,2995,11298,Prominent digit pad,HPO,phenotype,PHENOTYPE_2995
2996,2996,2996,2996,2996,2996,2996,2996,430073,Decreased circulating beta-carotene concentration,HPO,phenotype,PHENOTYPE_2996
2997,2997,2997,2997,2997,2997,2997,2997,774,Narrow chest,HPO,phenotype,PHENOTYPE_2997
2998,2998,2998,2998,2998,2998,2998,2998,3993,Broad ulna,HPO,phenotype,PHENOTYPE_2998
2999,2999,2999,2999,2999,2999,2999,2999,9994,Partial duplication of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_2999
3000,3000,3000,3000,3000,3000,3000,3000,12819,Myocarditis,HPO,phenotype,PHENOTYPE_3000
3001,3001,3001,3001,3001,3001,3001,3001,11927,Short digit,HPO,phenotype,PHENOTYPE_3001
3002,3002,3002,3002,3002,3002,3002,3002,100305,Ring fibers,HPO,phenotype,PHENOTYPE_3002
3003,3003,3003,3003,3003,3003,3003,3003,10028,Bullet-shaped 1st metacarpal,HPO,phenotype,PHENOTYPE_3003
3004,3004,3004,3004,3004,3004,3004,3004,3908,Corner fracture of metaphysis,HPO,phenotype,PHENOTYPE_3004
3005,3005,3005,3005,3005,3005,3005,3005,10946,Dilatation of the renal pelvis,HPO,phenotype,PHENOTYPE_3005
3006,3006,3006,3006,3006,3006,3006,3006,31267,Abnormal CD69 upregulation upon TCR activation,HPO,phenotype,PHENOTYPE_3006
3007,3007,3007,3007,3007,3007,3007,3007,25243,Subretinal hemorrhage,HPO,phenotype,PHENOTYPE_3007
3008,3008,3008,3008,3008,3008,3008,3008,32491,Increased circulating argininosuccinic acid,HPO,phenotype,PHENOTYPE_3008
3009,3009,3009,3009,3009,3009,3009,3009,1850,Abnormality of the tarsal bones,HPO,phenotype,PHENOTYPE_3009
3010,3010,3010,3010,3010,3010,3010,3010,20078,Alaninuria,HPO,phenotype,PHENOTYPE_3010
3011,3011,3011,3011,3011,3011,3011,3011,10224,Abnormal 4th metacarpal epiphysis morphology,HPO,phenotype,PHENOTYPE_3011
3012,3012,3012,3012,3012,3012,3012,3012,9204,Bracket epiphysis of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_3012
3013,3013,3013,3013,3013,3013,3013,3013,86,Ectopic kidney,HPO,phenotype,PHENOTYPE_3013
3014,3014,3014,3014,3014,3014,3014,3014,31762,Distance esotropia,HPO,phenotype,PHENOTYPE_3014
3015,3015,3015,3015,3015,3015,3015,3015,32940,Dissociation,HPO,phenotype,PHENOTYPE_3015
3016,3016,3016,3016,3016,3016,3016,3016,8061,Aplasia/Hypoplasia of the retina,HPO,phenotype,PHENOTYPE_3016
3017,3017,3017,3017,3017,3017,3017,3017,573,Retinal hemorrhage,HPO,phenotype,PHENOTYPE_3017
3018,3018,3018,3018,3018,3018,3018,3018,5482,Abnormality of the alternative complement pathway,HPO,phenotype,PHENOTYPE_3018
3019,3019,3019,3019,3019,3019,3019,3019,40155,Elevated urinary 3-hydroxybutyric acid,HPO,phenotype,PHENOTYPE_3019
3020,3020,3020,3020,3020,3020,3020,3020,32673,Focal non-convulsive status epilepticus without coma,HPO,phenotype,PHENOTYPE_3020
3021,3021,3021,3021,3021,3021,3021,3021,10357,Abnormality of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_3021
3022,3022,3022,3022,3022,3022,3022,3022,9219,Irregular epiphysis of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_3022
3023,3023,3023,3023,3023,3023,3023,3023,7068,Inferior cerebellar vermis hypoplasia,HPO,phenotype,PHENOTYPE_3023
3024,3024,3024,3024,3024,3024,3024,3024,6000417,Inferior vena cava obstruction,HPO,phenotype,PHENOTYPE_3024
3025,3025,3025,3025,3025,3025,3025,3025,31338,Abnormal cardiomyocyte plakoglobin staining,HPO,phenotype,PHENOTYPE_3025
3026,3026,3026,3026,3026,3026,3026,3026,11678,Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries,HPO,phenotype,PHENOTYPE_3026
3027,3027,3027,3027,3027,3027,3027,3027,6645,Thin clavicles,HPO,phenotype,PHENOTYPE_3027
3028,3028,3028,3028,3028,3028,3028,3028,33683,Jaw hyperreflexia,HPO,phenotype,PHENOTYPE_3028
3029,3029,3029,3029,3029,3029,3029,3029,4000011,History of congenital HPV infection,HPO,phenotype,PHENOTYPE_3029
3030,3030,3030,3030,3030,3030,3030,3030,32767,Focal autonomic seizure with piloerection,HPO,phenotype,PHENOTYPE_3030
3031,3031,3031,3031,3031,3031,3031,3031,1412,Enteroviral hepatitis,HPO,phenotype,PHENOTYPE_3031
3032,3032,3032,3032,3032,3032,3032,3032,25100,Abnormal hippocampus morphology,HPO,phenotype,PHENOTYPE_3032
3033,3033,3033,3033,3033,3033,3033,3033,6000527,Elevated circulating cholestanol concentration,HPO,phenotype,PHENOTYPE_3033
3034,3034,3034,3034,3034,3034,3034,3034,33738,Primary vesicoureteral reflux,HPO,phenotype,PHENOTYPE_3034
3035,3035,3035,3035,3035,3035,3035,3035,410183,Abnormal glucose-6-phosphate dehydrogenase level in leukocytes,HPO,phenotype,PHENOTYPE_3035
3036,3036,3036,3036,3036,3036,3036,3036,4876,Spontaneous neonatal pneumothorax,HPO,phenotype,PHENOTYPE_3036
3037,3037,3037,3037,3037,3037,3037,3037,12361,Increased fucosylation of O-linked protein glycosylation,HPO,phenotype,PHENOTYPE_3037
3038,3038,3038,3038,3038,3038,3038,3038,6167,Prominent proximal interphalangeal joints,HPO,phenotype,PHENOTYPE_3038
3039,3039,3039,3039,3039,3039,3039,3039,2948,Vertebral fusion,HPO,phenotype,PHENOTYPE_3039
3040,3040,3040,3040,3040,3040,3040,3040,10294,Palate fistula,HPO,phenotype,PHENOTYPE_3040
3041,3041,3041,3041,3041,3041,3041,3041,32544,Predominant small joint localization,HPO,phenotype,PHENOTYPE_3041
3042,3042,3042,3042,3042,3042,3042,3042,12162,Common carotid artery dissection,HPO,phenotype,PHENOTYPE_3042
3043,3043,3043,3043,3043,3043,3043,3043,10729,Cherry red spot of the macula,HPO,phenotype,PHENOTYPE_3043
3044,3044,3044,3044,3044,3044,3044,3044,2136,Broad-based gait,HPO,phenotype,PHENOTYPE_3044
3045,3045,3045,3045,3045,3045,3045,3045,100249,Calcification of muscles,HPO,phenotype,PHENOTYPE_3045
3046,3046,3046,3046,3046,3046,3046,3046,6000876,Anti-Glutamate Receptor delta2 antibody positivity,HPO,phenotype,PHENOTYPE_3046
3047,3047,3047,3047,3047,3047,3047,3047,32177,Parenchymal consolidation,HPO,phenotype,PHENOTYPE_3047
3048,3048,3048,3048,3048,3048,3048,3048,4802,Episodic hemolytic anemia,HPO,phenotype,PHENOTYPE_3048
3049,3049,3049,3049,3049,3049,3049,3049,100067,Bracket epiphyses of the 4th toe,HPO,phenotype,PHENOTYPE_3049
3050,3050,3050,3050,3050,3050,3050,3050,30832,Vitreous strands,HPO,phenotype,PHENOTYPE_3050
3051,3051,3051,3051,3051,3051,3051,3051,324,Facial asymmetry,HPO,phenotype,PHENOTYPE_3051
3052,3052,3052,3052,3052,3052,3052,3052,12622,Chronic kidney disease,HPO,phenotype,PHENOTYPE_3052
3053,3053,3053,3053,3053,3053,3053,3053,31935,Ascending aorta hypoplasia,HPO,phenotype,PHENOTYPE_3053
3054,3054,3054,3054,3054,3054,3054,3054,9952,Complete duplication of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_3054
3055,3055,3055,3055,3055,3055,3055,3055,34482,Abnormal spinal cord physiology,HPO,phenotype,PHENOTYPE_3055
3056,3056,3056,3056,3056,3056,3056,3056,5200335,Addictive sex behavior,HPO,phenotype,PHENOTYPE_3056
3057,3057,3057,3057,3057,3057,3057,3057,100651,Type I diabetes mellitus,HPO,phenotype,PHENOTYPE_3057
3058,3058,3058,3058,3058,3058,3058,3058,410334,Fungi allergy,HPO,phenotype,PHENOTYPE_3058
3059,3059,3059,3059,3059,3059,3059,3059,31785,Abnormal eyelid movement,HPO,phenotype,PHENOTYPE_3059
3060,3060,3060,3060,3060,3060,3060,3060,4918,Hyperchloremic metabolic acidosis,HPO,phenotype,PHENOTYPE_3060
3061,3061,3061,3061,3061,3061,3061,3061,100101,Bracket epiphysis of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_3061
3062,3062,3062,3062,3062,3062,3062,3062,10453,Pelvic bone asymmetry,HPO,phenotype,PHENOTYPE_3062
3063,3063,3063,3063,3063,3063,3063,3063,33466,Weak grip,HPO,phenotype,PHENOTYPE_3063
3064,3064,3064,3064,3064,3064,3064,3064,8830,Hypoplastic pubic ramus,HPO,phenotype,PHENOTYPE_3064
3065,3065,3065,3065,3065,3065,3065,3065,6048,Distal widening of metacarpals,HPO,phenotype,PHENOTYPE_3065
3066,3066,3066,3066,3066,3066,3066,3066,9017,Loss of gluteal subcutaneous adipose tissue,HPO,phenotype,PHENOTYPE_3066
3067,3067,3067,3067,3067,3067,3067,3067,9630,Broad proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_3067
3068,3068,3068,3068,3068,3068,3068,3068,6368,Forearm reduction defects,HPO,phenotype,PHENOTYPE_3068
3069,3069,3069,3069,3069,3069,3069,3069,6000355,Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_3069
3070,3070,3070,3070,3070,3070,3070,3070,2584,Intestinal bleeding,HPO,phenotype,PHENOTYPE_3070
3071,3071,3071,3071,3071,3071,3071,3071,9268,Pseudoepiphysis of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_3071
3072,3072,3072,3072,3072,3072,3072,3072,5881,Spinal instability,HPO,phenotype,PHENOTYPE_3072
3073,3073,3073,3073,3073,3073,3073,3073,33058,Decreased circulating complement C7 concentration,HPO,phenotype,PHENOTYPE_3073
3074,3074,3074,3074,3074,3074,3074,3074,100275,Diffuse cerebellar atrophy,HPO,phenotype,PHENOTYPE_3074
3075,3075,3075,3075,3075,3075,3075,3075,6001200,Ulnar wrist pain,HPO,phenotype,PHENOTYPE_3075
3076,3076,3076,3076,3076,3076,3076,3076,6000487,Reduced circulating interleukin 12 concentration,HPO,phenotype,PHENOTYPE_3076
3077,3077,3077,3077,3077,3077,3077,3077,30623,Intraretinal hyporeflective spaces on macular OCT,HPO,phenotype,PHENOTYPE_3077
3078,3078,3078,3078,3078,3078,3078,3078,2866,Hypoplastic iliac wing,HPO,phenotype,PHENOTYPE_3078
3079,3079,3079,3079,3079,3079,3079,3079,5758,Basilar impression,HPO,phenotype,PHENOTYPE_3079
3080,3080,3080,3080,3080,3080,3080,3080,33340,Increased circulating guanosine concentration,HPO,phenotype,PHENOTYPE_3080
3081,3081,3081,3081,3081,3081,3081,3081,33319,Fibrous crescent,HPO,phenotype,PHENOTYPE_3081
3082,3082,3082,3082,3082,3082,3082,3082,12615,Cylindruria,HPO,phenotype,PHENOTYPE_3082
3083,3083,3083,3083,3083,3083,3083,3083,4033,Curved olecranon,HPO,phenotype,PHENOTYPE_3083
3084,3084,3084,3084,3084,3084,3084,3084,370,Abnormality of the middle ear,HPO,phenotype,PHENOTYPE_3084
3085,3085,3085,3085,3085,3085,3085,3085,25013,Decerebrate rigidity,HPO,phenotype,PHENOTYPE_3085
3086,3086,3086,3086,3086,3086,3086,3086,25169,Left ventricular systolic dysfunction,HPO,phenotype,PHENOTYPE_3086
3087,3087,3087,3087,3087,3087,3087,3087,34115,Anti-Kelch like protein 12 antibody positivity,HPO,phenotype,PHENOTYPE_3087
3088,3088,3088,3088,3088,3088,3088,3088,11097,Epileptic spasm,HPO,phenotype,PHENOTYPE_3088
3089,3089,3089,3089,3089,3089,3089,3089,773,Short ribs,HPO,phenotype,PHENOTYPE_3089
3090,3090,3090,3090,3090,3090,3090,3090,32188,Cellular hypersensitivity to mitomycin C,HPO,phenotype,PHENOTYPE_3090
3091,3091,3091,3091,3091,3091,3091,3091,33119,Elevated right ventricular systolic pressure,HPO,phenotype,PHENOTYPE_3091
3092,3092,3092,3092,3092,3092,3092,3092,1538,Protuberant abdomen,HPO,phenotype,PHENOTYPE_3092
3093,3093,3093,3093,3093,3093,3093,3093,7772,Impaired smooth pursuit,HPO,phenotype,PHENOTYPE_3093
3094,3094,3094,3094,3094,3094,3094,3094,30606,Abnormal OCT-measured macular thickness,HPO,phenotype,PHENOTYPE_3094
3095,3095,3095,3095,3095,3095,3095,3095,40407,Mastitis,HPO,phenotype,PHENOTYPE_3095
3096,3096,3096,3096,3096,3096,3096,3096,430036,Supracondylar elbow fracture,HPO,phenotype,PHENOTYPE_3096
3097,3097,3097,3097,3097,3097,3097,3097,4920,Phenylpyruvic acidemia,HPO,phenotype,PHENOTYPE_3097
3098,3098,3098,3098,3098,3098,3098,3098,410260,Asymmetrical gluteal crease,HPO,phenotype,PHENOTYPE_3098
3099,3099,3099,3099,3099,3099,3099,3099,5200022,Reduced awareness of convention,HPO,phenotype,PHENOTYPE_3099
3100,3100,3100,3100,3100,3100,3100,3100,3463,Increased extraneuronal autofluorescent lipopigment,HPO,phenotype,PHENOTYPE_3100
3101,3101,3101,3101,3101,3101,3101,3101,7376,Abnormal choroid plexus morphology,HPO,phenotype,PHENOTYPE_3101
3102,3102,3102,3102,3102,3102,3102,3102,31591,Enlarged Eustachian valve,HPO,phenotype,PHENOTYPE_3102
3103,3103,3103,3103,3103,3103,3103,3103,100719,Lens coloboma,HPO,phenotype,PHENOTYPE_3103
3104,3104,3104,3104,3104,3104,3104,3104,1024,Skin dimple over apex of long bone angulation,HPO,phenotype,PHENOTYPE_3104
3105,3105,3105,3105,3105,3105,3105,3105,32768,Focal aware autonomic seizure with pupillary dilation/constriction,HPO,phenotype,PHENOTYPE_3105
3106,3106,3106,3106,3106,3106,3106,3106,8484,Thoracolumbar interpediculate narrowness,HPO,phenotype,PHENOTYPE_3106
3107,3107,3107,3107,3107,3107,3107,3107,100762,Hemobilia,HPO,phenotype,PHENOTYPE_3107
3108,3108,3108,3108,3108,3108,3108,3108,2075,Dysdiadochokinesis,HPO,phenotype,PHENOTYPE_3108
3109,3109,3109,3109,3109,3109,3109,3109,10257,Absent epiphyses of the middle phalanges of the hand,HPO,phenotype,PHENOTYPE_3109
3110,3110,3110,3110,3110,3110,3110,3110,9445,Symphalangism of the 3rd finger,HPO,phenotype,PHENOTYPE_3110
3111,3111,3111,3111,3111,3111,3111,3111,34208,Fetal intracranial hemorrhage,HPO,phenotype,PHENOTYPE_3111
3112,3112,3112,3112,3112,3112,3112,3112,32418,Abnormal HDL subfraction concentration,HPO,phenotype,PHENOTYPE_3112
3113,3113,3113,3113,3113,3113,3113,3113,33991,Vasa previa,HPO,phenotype,PHENOTYPE_3113
3114,3114,3114,3114,3114,3114,3114,3114,31816,Abnormal oral morphology,HPO,phenotype,PHENOTYPE_3114
3115,3115,3115,3115,3115,3115,3115,3115,500185,Abnormal CSF branched chain amino acid concentration,HPO,phenotype,PHENOTYPE_3115
3116,3116,3116,3116,3116,3116,3116,3116,33008,Increased Z-disc width,HPO,phenotype,PHENOTYPE_3116
3117,3117,3117,3117,3117,3117,3117,3117,5200292,Non-restorative sleep,HPO,phenotype,PHENOTYPE_3117
3118,3118,3118,3118,3118,3118,3118,3118,9640,Synostosis of the proximal phalanx of the thumb with the 1st metacarpal,HPO,phenotype,PHENOTYPE_3118
3119,3119,3119,3119,3119,3119,3119,3119,6000212,Elevated CSF dihydrothymine concentration,HPO,phenotype,PHENOTYPE_3119
3120,3120,3120,3120,3120,3120,3120,3120,35028,Elevated circulating 3-hydroxyisovalerylcarnitine concentration,HPO,phenotype,PHENOTYPE_3120
3121,3121,3121,3121,3121,3121,3121,3121,31681,Type III atherosclerotic lesion,HPO,phenotype,PHENOTYPE_3121
3122,3122,3122,3122,3122,3122,3122,3122,3897,Irregular ossification of the humeral epiphyses,HPO,phenotype,PHENOTYPE_3122
3123,3123,3123,3123,3123,3123,3123,3123,9808,Anomaly of the upper limb diaphyses,HPO,phenotype,PHENOTYPE_3123
3124,3124,3124,3124,3124,3124,3124,3124,41076,Abnormal immunoglobulin level in body fluid,HPO,phenotype,PHENOTYPE_3124
3125,3125,3125,3125,3125,3125,3125,3125,648,Optic atrophy,HPO,phenotype,PHENOTYPE_3125
3126,3126,3126,3126,3126,3126,3126,3126,2263,Exaggerated cupid's bow,HPO,phenotype,PHENOTYPE_3126
3127,3127,3127,3127,3127,3127,3127,3127,100932,Sclerosis of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_3127
3128,3128,3128,3128,3128,3128,3128,3128,4614,Spina bifida occulta at S1,HPO,phenotype,PHENOTYPE_3128
3129,3129,3129,3129,3129,3129,3129,3129,4704,Short fifth metatarsal,HPO,phenotype,PHENOTYPE_3129
3130,3130,3130,3130,3130,3130,3130,3130,34234,L-shaped kidney,HPO,phenotype,PHENOTYPE_3130
3131,3131,3131,3131,3131,3131,3131,3131,30630,Irregular central macular autofluorescence,HPO,phenotype,PHENOTYPE_3131
3132,3132,3132,3132,3132,3132,3132,3132,879,Short sternum,HPO,phenotype,PHENOTYPE_3132
3133,3133,3133,3133,3133,3133,3133,3133,4000192,Reduced leukocyte cathepsin D activity,HPO,phenotype,PHENOTYPE_3133
3134,3134,3134,3134,3134,3134,3134,3134,12544,Elevated circulating aldolase concentration,HPO,phenotype,PHENOTYPE_3134
3135,3135,3135,3135,3135,3135,3135,3135,9213,Triangular epiphysis of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_3135
3136,3136,3136,3136,3136,3136,3136,3136,576,Centrocecal scotoma,HPO,phenotype,PHENOTYPE_3136
3137,3137,3137,3137,3137,3137,3137,3137,45046,Reduced insulin like growth factor binding protein acid labile subunit concentration,HPO,phenotype,PHENOTYPE_3137
3138,3138,3138,3138,3138,3138,3138,3138,1711,Abnormal left ventricle morphology,HPO,phenotype,PHENOTYPE_3138
3139,3139,3139,3139,3139,3139,3139,3139,25333,Cortical thinning of foot bones,HPO,phenotype,PHENOTYPE_3139
3140,3140,3140,3140,3140,3140,3140,3140,9791,Bifid sacrum,HPO,phenotype,PHENOTYPE_3140
3141,3141,3141,3141,3141,3141,3141,3141,6001146,Biceps tendonitis,HPO,phenotype,PHENOTYPE_3141
3142,3142,3142,3142,3142,3142,3142,3142,7048,Large basal ganglia,HPO,phenotype,PHENOTYPE_3142
3143,3143,3143,3143,3143,3143,3143,3143,100028,Ectopic thyroid,HPO,phenotype,PHENOTYPE_3143
3144,3144,3144,3144,3144,3144,3144,3144,12587,Macroscopic hematuria,HPO,phenotype,PHENOTYPE_3144
3145,3145,3145,3145,3145,3145,3145,3145,8733,Dysplastic testes,HPO,phenotype,PHENOTYPE_3145
3146,3146,3146,3146,3146,3146,3146,3146,3434,Sensory ataxic neuropathy,HPO,phenotype,PHENOTYPE_3146
3147,3147,3147,3147,3147,3147,3147,3147,34008,Opto-chiasmatic atrophy,HPO,phenotype,PHENOTYPE_3147
3148,3148,3148,3148,3148,3148,3148,3148,11500,Polycoria,HPO,phenotype,PHENOTYPE_3148
3149,3149,3149,3149,3149,3149,3149,3149,30690,Gingival cleft,HPO,phenotype,PHENOTYPE_3149
3150,3150,3150,3150,3150,3150,3150,3150,12288,Neoplasm of head and neck,HPO,phenotype,PHENOTYPE_3150
3151,3151,3151,3151,3151,3151,3151,3151,4854,Intermittent thrombocytopenia,HPO,phenotype,PHENOTYPE_3151
3152,3152,3152,3152,3152,3152,3152,3152,206,Glossitis,HPO,phenotype,PHENOTYPE_3152
3153,3153,3153,3153,3153,3153,3153,3153,1869,Deep plantar creases,HPO,phenotype,PHENOTYPE_3153
3154,3154,3154,3154,3154,3154,3154,3154,5200130,Insistence on sameness,HPO,phenotype,PHENOTYPE_3154
3155,3155,3155,3155,3155,3155,3155,3155,100800,Aplasia/Hypoplasia of the pancreas,HPO,phenotype,PHENOTYPE_3155
3156,3156,3156,3156,3156,3156,3156,3156,9693,Pseudoepiphysis of the thumb,HPO,phenotype,PHENOTYPE_3156
3157,3157,3157,3157,3157,3157,3157,3157,32426,Abnormal HDL3b concentration,HPO,phenotype,PHENOTYPE_3157
3158,3158,3158,3158,3158,3158,3158,3158,31364,Ecchymosis,HPO,phenotype,PHENOTYPE_3158
3159,3159,3159,3159,3159,3159,3159,3159,3942,Synovial chondromatosis of the elbow,HPO,phenotype,PHENOTYPE_3159
3160,3160,3160,3160,3160,3160,3160,3160,9554,Preauricular hair displacement,HPO,phenotype,PHENOTYPE_3160
3161,3161,3161,3161,3161,3161,3161,3161,12158,Carotid artery dissection,HPO,phenotype,PHENOTYPE_3161
3162,3162,3162,3162,3162,3162,3162,3162,10285,Oral synechia,HPO,phenotype,PHENOTYPE_3162
3163,3163,3163,3163,3163,3163,3163,3163,32791,Focal impaired awareness cognitive seizure with anomia,HPO,phenotype,PHENOTYPE_3163
3164,3164,3164,3164,3164,3164,3164,3164,528,Anophthalmia,HPO,phenotype,PHENOTYPE_3164
3165,3165,3165,3165,3165,3165,3165,3165,3310,Abnormal odontoid process morphology,HPO,phenotype,PHENOTYPE_3165
3166,3166,3166,3166,3166,3166,3166,3166,31810,Anti-ganglioside antibody positivity,HPO,phenotype,PHENOTYPE_3166
3167,3167,3167,3167,3167,3167,3167,3167,7009,Central nervous system degeneration,HPO,phenotype,PHENOTYPE_3167
3168,3168,3168,3168,3168,3168,3168,3168,7412,Macular hyperpigmented dermopathy,HPO,phenotype,PHENOTYPE_3168
3169,3169,3169,3169,3169,3169,3169,3169,33963,Abnormal interlobular vein intima/media morphology,HPO,phenotype,PHENOTYPE_3169
3170,3170,3170,3170,3170,3170,3170,3170,100064,Stippling of the epiphyses of the 3rd toe,HPO,phenotype,PHENOTYPE_3170
3171,3171,3171,3171,3171,3171,3171,3171,894,Short clavicles,HPO,phenotype,PHENOTYPE_3171
3172,3172,3172,3172,3172,3172,3172,3172,25086,Bloody mucoid diarrhea,HPO,phenotype,PHENOTYPE_3172
3173,3173,3173,3173,3173,3173,3173,3173,1099,Fundus atrophy,HPO,phenotype,PHENOTYPE_3173
3174,3174,3174,3174,3174,3174,3174,3174,7793,Granular macular appearance,HPO,phenotype,PHENOTYPE_3174
3175,3175,3175,3175,3175,3175,3175,3175,1705,Right ventricular outlet tract obstruction,HPO,phenotype,PHENOTYPE_3175
3176,3176,3176,3176,3176,3176,3176,3176,6000923,Positive bloodstream EBV monospot test,HPO,phenotype,PHENOTYPE_3176
3177,3177,3177,3177,3177,3177,3177,3177,6000995,Subcortical U fiber lesion,HPO,phenotype,PHENOTYPE_3177
3178,3178,3178,3178,3178,3178,3178,3178,429,Abnormal morphology of the nasal alae,HPO,phenotype,PHENOTYPE_3178
3179,3179,3179,3179,3179,3179,3179,3179,9771,Osteolytic defects of the phalanges of the hand,HPO,phenotype,PHENOTYPE_3179
3180,3180,3180,3180,3180,3180,3180,3180,8723,"Gonadal dysgenesis with female appearance, male",HPO,phenotype,PHENOTYPE_3180
3181,3181,3181,3181,3181,3181,3181,3181,100501,Recurrent bronchiolitis,HPO,phenotype,PHENOTYPE_3181
3182,3182,3182,3182,3182,3182,3182,3182,7425,Hyperextensible skin of face,HPO,phenotype,PHENOTYPE_3182
3183,3183,3183,3183,3183,3183,3183,3183,25190,Bilateral tonic-clonic seizure with generalized onset,HPO,phenotype,PHENOTYPE_3183
3184,3184,3184,3184,3184,3184,3184,3184,6077,Absent proximal finger flexion creases,HPO,phenotype,PHENOTYPE_3184
3185,3185,3185,3185,3185,3185,3185,3185,25562,Anterior chamber cells grade 0.5+,HPO,phenotype,PHENOTYPE_3185
3186,3186,3186,3186,3186,3186,3186,3186,410249,Increased anti-alpha-gal IgE antibody level,HPO,phenotype,PHENOTYPE_3186
3187,3187,3187,3187,3187,3187,3187,3187,3207,Arterial calcification,HPO,phenotype,PHENOTYPE_3187
3188,3188,3188,3188,3188,3188,3188,3188,8034,Abnormal iris pigmentation,HPO,phenotype,PHENOTYPE_3188
3189,3189,3189,3189,3189,3189,3189,3189,718,Aggressive behavior,HPO,phenotype,PHENOTYPE_3189
3190,3190,3190,3190,3190,3190,3190,3190,6280,Chronic pancreatitis,HPO,phenotype,PHENOTYPE_3190
3191,3191,3191,3191,3191,3191,3191,3191,12698,Cerebellar gliosis,HPO,phenotype,PHENOTYPE_3191
3192,3192,3192,3192,3192,3192,3192,3192,4990,Epiphyseal streaking,HPO,phenotype,PHENOTYPE_3192
3193,3193,3193,3193,3193,3193,3193,3193,30481,Abnormal amplitude of light-adapted single flash electroretinogram,HPO,phenotype,PHENOTYPE_3193
3194,3194,3194,3194,3194,3194,3194,3194,11070,Abnormal molar morphology,HPO,phenotype,PHENOTYPE_3194
3195,3195,3195,3195,3195,3195,3195,3195,5991,Limited neck flexion,HPO,phenotype,PHENOTYPE_3195
3196,3196,3196,3196,3196,3196,3196,3196,33191,Increased circulating selenium concentration,HPO,phenotype,PHENOTYPE_3196
3197,3197,3197,3197,3197,3197,3197,3197,12847,Epilepsia partialis continua,HPO,phenotype,PHENOTYPE_3197
3198,3198,3198,3198,3198,3198,3198,3198,10925,Nuclear punctate cataract,HPO,phenotype,PHENOTYPE_3198
3199,3199,3199,3199,3199,3199,3199,3199,10367,Duplication of phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_3199
3200,3200,3200,3200,3200,3200,3200,3200,1907,Thromboembolism,HPO,phenotype,PHENOTYPE_3200
3201,3201,3201,3201,3201,3201,3201,3201,4000172,Vegan diet,HPO,phenotype,PHENOTYPE_3201
3202,3202,3202,3202,3202,3202,3202,3202,6000096,Corneal transplant history,HPO,phenotype,PHENOTYPE_3202
3203,3203,3203,3203,3203,3203,3203,3203,100847,Palmoplantar pustulosis,HPO,phenotype,PHENOTYPE_3203
3204,3204,3204,3204,3204,3204,3204,3204,419,Abnormal nasal septum morphology,HPO,phenotype,PHENOTYPE_3204
3205,3205,3205,3205,3205,3205,3205,3205,34825,Ameliorated by steroid medication,HPO,phenotype,PHENOTYPE_3205
3206,3206,3206,3206,3206,3206,3206,3206,33755,Increased left ventricular end-diastolic volume,HPO,phenotype,PHENOTYPE_3206
3207,3207,3207,3207,3207,3207,3207,3207,10272,Fragmentation of the epiphyses of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_3207
3208,3208,3208,3208,3208,3208,3208,3208,970,Anhidrosis,HPO,phenotype,PHENOTYPE_3208
3209,3209,3209,3209,3209,3209,3209,3209,8207,Primary adrenal insufficiency,HPO,phenotype,PHENOTYPE_3209
3210,3210,3210,3210,3210,3210,3210,3210,40012,Chromosome breakage,HPO,phenotype,PHENOTYPE_3210
3211,3211,3211,3211,3211,3211,3211,3211,25758,Characteristic of mass,HPO,phenotype,PHENOTYPE_3211
3212,3212,3212,3212,3212,3212,3212,3212,12579,Minimal change glomerulonephritis,HPO,phenotype,PHENOTYPE_3212
3213,3213,3213,3213,3213,3213,3213,3213,3296,Hyperthreoninuria,HPO,phenotype,PHENOTYPE_3213
3214,3214,3214,3214,3214,3214,3214,3214,30137,Prolonged bleeding following circumcision,HPO,phenotype,PHENOTYPE_3214
3215,3215,3215,3215,3215,3215,3215,3215,34445,Reduced gamma-glutamyltransferase level,HPO,phenotype,PHENOTYPE_3215
3216,3216,3216,3216,3216,3216,3216,3216,11073,Abnormality of dental color,HPO,phenotype,PHENOTYPE_3216
3217,3217,3217,3217,3217,3217,3217,3217,9353,Pseudoepiphysis of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_3217
3218,3218,3218,3218,3218,3218,3218,3218,4848,Ph-positive acute lymphoblastic leukemia,HPO,phenotype,PHENOTYPE_3218
3219,3219,3219,3219,3219,3219,3219,3219,2789,Tachypnea,HPO,phenotype,PHENOTYPE_3219
3220,3220,3220,3220,3220,3220,3220,3220,11383,Enlarged semicircular canal,HPO,phenotype,PHENOTYPE_3220
3221,3221,3221,3221,3221,3221,3221,3221,32229,Perinuclear antineutrophil antibody positivity,HPO,phenotype,PHENOTYPE_3221
3222,3222,3222,3222,3222,3222,3222,3222,34509,Spheroid bodies,HPO,phenotype,PHENOTYPE_3222
3223,3223,3223,3223,3223,3223,3223,3223,4000044,Transverse fracture,HPO,phenotype,PHENOTYPE_3223
3224,3224,3224,3224,3224,3224,3224,3224,100074,Small epiphyses of the 4th toe,HPO,phenotype,PHENOTYPE_3224
3225,3225,3225,3225,3225,3225,3225,3225,35004,Reduced epidermal keratin protein expression,HPO,phenotype,PHENOTYPE_3225
3226,3226,3226,3226,3226,3226,3226,3226,25675,Premature closure of the ductus arteriosus,HPO,phenotype,PHENOTYPE_3226
3227,3227,3227,3227,3227,3227,3227,3227,6000825,Reduced C27 3beta-HSD activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_3227
3228,3228,3228,3228,3228,3228,3228,3228,238,Hydrocephalus,HPO,phenotype,PHENOTYPE_3228
3229,3229,3229,3229,3229,3229,3229,3229,40177,Abnormal level of platelet-activating factor,HPO,phenotype,PHENOTYPE_3229
3230,3230,3230,3230,3230,3230,3230,3230,7480,Decreased sweating due to autonomic dysfunction,HPO,phenotype,PHENOTYPE_3230
3231,3231,3231,3231,3231,3231,3231,3231,3107,Abnormal circulating cholesterol concentration,HPO,phenotype,PHENOTYPE_3231
3232,3232,3232,3232,3232,3232,3232,3232,12376,Microphakia,HPO,phenotype,PHENOTYPE_3232
3233,3233,3233,3233,3233,3233,3233,3233,5195,Polyarticular arthropathy,HPO,phenotype,PHENOTYPE_3233
3234,3234,3234,3234,3234,3234,3234,3234,30396,Abnormal platelet granule secretion,HPO,phenotype,PHENOTYPE_3234
3235,3235,3235,3235,3235,3235,3235,3235,30689,Decreased glucagon level,HPO,phenotype,PHENOTYPE_3235
3236,3236,3236,3236,3236,3236,3236,3236,6000848,Superior olive hypertrophy,HPO,phenotype,PHENOTYPE_3236
3237,3237,3237,3237,3237,3237,3237,3237,5103,Calcification of the auricular cartilage,HPO,phenotype,PHENOTYPE_3237
3238,3238,3238,3238,3238,3238,3238,3238,6603,"Flared, irregular rib ends",HPO,phenotype,PHENOTYPE_3238
3239,3239,3239,3239,3239,3239,3239,3239,7123,Subcortical dementia,HPO,phenotype,PHENOTYPE_3239
3240,3240,3240,3240,3240,3240,3240,3240,200128,Biventricular hypertrophy,HPO,phenotype,PHENOTYPE_3240
3241,3241,3241,3241,3241,3241,3241,3241,32070,Leptomeningeal enhancement,HPO,phenotype,PHENOTYPE_3241
3242,3242,3242,3242,3242,3242,3242,3242,12541,Cephalohematoma,HPO,phenotype,PHENOTYPE_3242
3243,3243,3243,3243,3243,3243,3243,3243,6713,Aplasia/Hypoplasia of the scapulae,HPO,phenotype,PHENOTYPE_3243
3244,3244,3244,3244,3244,3244,3244,3244,6001032,Hepatic cystine accumulation,HPO,phenotype,PHENOTYPE_3244
3245,3245,3245,3245,3245,3245,3245,3245,995,Melanocytic nevus,HPO,phenotype,PHENOTYPE_3245
3246,3246,3246,3246,3246,3246,3246,3246,25030,Enteric neuronal degeneration,HPO,phenotype,PHENOTYPE_3246
3247,3247,3247,3247,3247,3247,3247,3247,41237,Fractured patella,HPO,phenotype,PHENOTYPE_3247
3248,3248,3248,3248,3248,3248,3248,3248,2891,Uterine leiomyosarcoma,HPO,phenotype,PHENOTYPE_3248
3249,3249,3249,3249,3249,3249,3249,3249,6326,Buried teeth encased in mucopolysaccharide,HPO,phenotype,PHENOTYPE_3249
3250,3250,3250,3250,3250,3250,3250,3250,5419,Decreased T cell activation,HPO,phenotype,PHENOTYPE_3250
3251,3251,3251,3251,3251,3251,3251,3251,6644,Thoracic dysplasia,HPO,phenotype,PHENOTYPE_3251
3252,3252,3252,3252,3252,3252,3252,3252,32573,Elevated urinary cytidine,HPO,phenotype,PHENOTYPE_3252
3253,3253,3253,3253,3253,3253,3253,3253,7710,Peripheral vitreous opacities,HPO,phenotype,PHENOTYPE_3253
3254,3254,3254,3254,3254,3254,3254,3254,10637,Conjunctival amyloidosis,HPO,phenotype,PHENOTYPE_3254
3255,3255,3255,3255,3255,3255,3255,3255,30113,Abnormal muscle fiber dysferlin,HPO,phenotype,PHENOTYPE_3255
3256,3256,3256,3256,3256,3256,3256,3256,1864,Clinodactyly of the 5th toe,HPO,phenotype,PHENOTYPE_3256
3257,3257,3257,3257,3257,3257,3257,3257,32109,Moderately reduced contrast sensitivity,HPO,phenotype,PHENOTYPE_3257
3258,3258,3258,3258,3258,3258,3258,3258,12046,Areflexia of upper limbs,HPO,phenotype,PHENOTYPE_3258
3259,3259,3259,3259,3259,3259,3259,3259,444,Convex nasal ridge,HPO,phenotype,PHENOTYPE_3259
3260,3260,3260,3260,3260,3260,3260,3260,10390,Triangular shaped phalanges of the 5th toe,HPO,phenotype,PHENOTYPE_3260
3261,3261,3261,3261,3261,3261,3261,3261,7158,Progressive extrapyramidal muscular rigidity,HPO,phenotype,PHENOTYPE_3261
3262,3262,3262,3262,3262,3262,3262,3262,32892,Infection-related seizure,HPO,phenotype,PHENOTYPE_3262
3263,3263,3263,3263,3263,3263,3263,3263,10620,Malar prominence,HPO,phenotype,PHENOTYPE_3263
3264,3264,3264,3264,3264,3264,3264,3264,34174,Reduced circulating interleukin 27 concentration,HPO,phenotype,PHENOTYPE_3264
3265,3265,3265,3265,3265,3265,3265,3265,25798,Abnormal wrist morphology,HPO,phenotype,PHENOTYPE_3265
3266,3266,3266,3266,3266,3266,3266,3266,31118,Single raphe bicuspid aortic valve,HPO,phenotype,PHENOTYPE_3266
3267,3267,3267,3267,3267,3267,3267,3267,100190,Triangular epiphysis of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_3267
3268,3268,3268,3268,3268,3268,3268,3268,30865,Large elbow,HPO,phenotype,PHENOTYPE_3268
3269,3269,3269,3269,3269,3269,3269,3269,6001157,Occupational exposure to frequent kneeling,HPO,phenotype,PHENOTYPE_3269
3270,3270,3270,3270,3270,3270,3270,3270,34026,Elevated circulating saccharopine concentration,HPO,phenotype,PHENOTYPE_3270
3271,3271,3271,3271,3271,3271,3271,3271,11745,Non-secretory adrenocortical adenoma,HPO,phenotype,PHENOTYPE_3271
3272,3272,3272,3272,3272,3272,3272,3272,25277,Gustatory sweating,HPO,phenotype,PHENOTYPE_3272
3273,3273,3273,3273,3273,3273,3273,3273,7761,Pericentral scotoma,HPO,phenotype,PHENOTYPE_3273
3274,3274,3274,3274,3274,3274,3274,3274,6001197,Wrist arthritis,HPO,phenotype,PHENOTYPE_3274
3275,3275,3275,3275,3275,3275,3275,3275,3177,Squared iliac bones,HPO,phenotype,PHENOTYPE_3275
3276,3276,3276,3276,3276,3276,3276,3276,7434,Plaque-like facial hemangioma,HPO,phenotype,PHENOTYPE_3276
3277,3277,3277,3277,3277,3277,3277,3277,41180,Fractured distal phalanx of pedal digit 1,HPO,phenotype,PHENOTYPE_3277
3278,3278,3278,3278,3278,3278,3278,3278,410255,Transient neutropenia,HPO,phenotype,PHENOTYPE_3278
3279,3279,3279,3279,3279,3279,3279,3279,11648,Patent ductus arteriosus after birth at term,HPO,phenotype,PHENOTYPE_3279
3280,3280,3280,3280,3280,3280,3280,3280,100285,EMG: impaired neuromuscular transmission,HPO,phenotype,PHENOTYPE_3280
3281,3281,3281,3281,3281,3281,3281,3281,10048,Aplasia of metacarpal bones,HPO,phenotype,PHENOTYPE_3281
3282,3282,3282,3282,3282,3282,3282,3282,25448,Anterior displacement of the papillary muscles,HPO,phenotype,PHENOTYPE_3282
3283,3283,3283,3283,3283,3283,3283,3283,31442,Abnormal tricuspid chordae tendinae morphology,HPO,phenotype,PHENOTYPE_3283
3284,3284,3284,3284,3284,3284,3284,3284,1775,Tarsal osteovalgus,HPO,phenotype,PHENOTYPE_3284
3285,3285,3285,3285,3285,3285,3285,3285,6001069,Displaced anterior fontanelle,HPO,phenotype,PHENOTYPE_3285
3286,3286,3286,3286,3286,3286,3286,3286,32781,Focal aware autonomic seizure with urge to urinate/defecate,HPO,phenotype,PHENOTYPE_3286
3287,3287,3287,3287,3287,3287,3287,3287,11680,Single ventricle of indeterminate morphology,HPO,phenotype,PHENOTYPE_3287
3288,3288,3288,3288,3288,3288,3288,3288,8138,Equinus calcaneus,HPO,phenotype,PHENOTYPE_3288
3289,3289,3289,3289,3289,3289,3289,3289,6000896,Fibrocystic breast lesion,HPO,phenotype,PHENOTYPE_3289
3290,3290,3290,3290,3290,3290,3290,3290,32594,Renal tubular basement membrane denudation,HPO,phenotype,PHENOTYPE_3290
3291,3291,3291,3291,3291,3291,3291,3291,6000299,Forearm pain,HPO,phenotype,PHENOTYPE_3291
3292,3292,3292,3292,3292,3292,3292,3292,100337,Bilateral cleft palate,HPO,phenotype,PHENOTYPE_3292
3293,3293,3293,3293,3293,3293,3293,3293,33998,Single-lobed right lung,HPO,phenotype,PHENOTYPE_3293
3294,3294,3294,3294,3294,3294,3294,3294,40082,Happy demeanor,HPO,phenotype,PHENOTYPE_3294
3295,3295,3295,3295,3295,3295,3295,3295,32535,Cervical (neck),HPO,phenotype,PHENOTYPE_3295
3296,3296,3296,3296,3296,3296,3296,3296,410314,Decreased urinary 1-methylhistidine,HPO,phenotype,PHENOTYPE_3296
3297,3297,3297,3297,3297,3297,3297,3297,5200062,Auditory sensory seeking,HPO,phenotype,PHENOTYPE_3297
3298,3298,3298,3298,3298,3298,3298,3298,4563,Increased spinal bone density,HPO,phenotype,PHENOTYPE_3298
3299,3299,3299,3299,3299,3299,3299,3299,5067,Proximal fibular overgrowth,HPO,phenotype,PHENOTYPE_3299
3300,3300,3300,3300,3300,3300,3300,3300,12003,Affective epileptic aura,HPO,phenotype,PHENOTYPE_3300
3301,3301,3301,3301,3301,3301,3301,3301,12238,Increased circulating chylomicron concentration,HPO,phenotype,PHENOTYPE_3301
3302,3302,3302,3302,3302,3302,3302,3302,8472,Prominent protruding coccyx,HPO,phenotype,PHENOTYPE_3302
3303,3303,3303,3303,3303,3303,3303,3303,6000052,Localized to the penis,HPO,phenotype,PHENOTYPE_3303
3304,3304,3304,3304,3304,3304,3304,3304,9545,Symphalangism of the 2nd finger,HPO,phenotype,PHENOTYPE_3304
3305,3305,3305,3305,3305,3305,3305,3305,6462,Generalized bone demineralization,HPO,phenotype,PHENOTYPE_3305
3306,3306,3306,3306,3306,3306,3306,3306,929,Abnormal skull morphology,HPO,phenotype,PHENOTYPE_3306
3307,3307,3307,3307,3307,3307,3307,3307,32179,Abnormal circulating globulin concentration,HPO,phenotype,PHENOTYPE_3307
3308,3308,3308,3308,3308,3308,3308,3308,3970,Undermodelled forearm bones,HPO,phenotype,PHENOTYPE_3308
3309,3309,3309,3309,3309,3309,3309,3309,25426,Abnormal bronchus morphology,HPO,phenotype,PHENOTYPE_3309
3310,3310,3310,3310,3310,3310,3310,3310,6491,Abnormal tibial metaphysis morphology,HPO,phenotype,PHENOTYPE_3310
3311,3311,3311,3311,3311,3311,3311,3311,31050,Whole-immunoglobulin paraproteinemia,HPO,phenotype,PHENOTYPE_3311
3312,3312,3312,3312,3312,3312,3312,3312,11031,Abnormality of iron homeostasis,HPO,phenotype,PHENOTYPE_3312
3313,3313,3313,3313,3313,3313,3313,3313,34307,Elevated left ventricular end-diastolic diameter,HPO,phenotype,PHENOTYPE_3313
3314,3314,3314,3314,3314,3314,3314,3314,34190,Abnormal fetal cardiovascular physiology,HPO,phenotype,PHENOTYPE_3314
3315,3315,3315,3315,3315,3315,3315,3315,31091,Toe dactylitis,HPO,phenotype,PHENOTYPE_3315
3316,3316,3316,3316,3316,3316,3316,3316,25523,Abnormal morphology of the chordae tendinae of the mitral valve,HPO,phenotype,PHENOTYPE_3316
3317,3317,3317,3317,3317,3317,3317,3317,33379,Bilateral superior vena cava,HPO,phenotype,PHENOTYPE_3317
3318,3318,3318,3318,3318,3318,3318,3318,11616,Pulmonary situs inversus,HPO,phenotype,PHENOTYPE_3318
3319,3319,3319,3319,3319,3319,3319,3319,25652,Abnormal placental adhesion into the uterine wall,HPO,phenotype,PHENOTYPE_3319
3320,3320,3320,3320,3320,3320,3320,3320,7947,Pericentral retinitis pigmentosa,HPO,phenotype,PHENOTYPE_3320
3321,3321,3321,3321,3321,3321,3321,3321,34304,Epsilon wave,HPO,phenotype,PHENOTYPE_3321
3322,3322,3322,3322,3322,3322,3322,3322,6000187,Anti-thrombospondin type I domain-containing 7A antibody positivity,HPO,phenotype,PHENOTYPE_3322
3323,3323,3323,3323,3323,3323,3323,3323,430022,Abnormality of the sphenoid sinus,HPO,phenotype,PHENOTYPE_3323
3324,3324,3324,3324,3324,3324,3324,3324,33994,Dependency on parenteral nutrition,HPO,phenotype,PHENOTYPE_3324
3325,3325,3325,3325,3325,3325,3325,3325,34401,Atypical teratoid/rhabdoid tumor,HPO,phenotype,PHENOTYPE_3325
3326,3326,3326,3326,3326,3326,3326,3326,32613,Renal interstitial amyloid deposits,HPO,phenotype,PHENOTYPE_3326
3327,3327,3327,3327,3327,3327,3327,3327,2594,Pancreatic hypoplasia,HPO,phenotype,PHENOTYPE_3327
3328,3328,3328,3328,3328,3328,3328,3328,10754,Abnormality of the temporomandibular joint,HPO,phenotype,PHENOTYPE_3328
3329,3329,3329,3329,3329,3329,3329,3329,2061,Lower limb spasticity,HPO,phenotype,PHENOTYPE_3329
3330,3330,3330,3330,3330,3330,3330,3330,1822,Hallux valgus,HPO,phenotype,PHENOTYPE_3330
3331,3331,3331,3331,3331,3331,3331,3331,7365,Aplasia/Hypoplasia involving the corticospinal tracts,HPO,phenotype,PHENOTYPE_3331
3332,3332,3332,3332,3332,3332,3332,3332,4000073,Pronoun reversal,HPO,phenotype,PHENOTYPE_3332
3333,3333,3333,3333,3333,3333,3333,3333,7592,Aplasia/Hypoplasia of the eccrine sweat glands,HPO,phenotype,PHENOTYPE_3333
3334,3334,3334,3334,3334,3334,3334,3334,11089,Double tooth,HPO,phenotype,PHENOTYPE_3334
3335,3335,3335,3335,3335,3335,3335,3335,5621,Trapezoidal vertebral body,HPO,phenotype,PHENOTYPE_3335
3336,3336,3336,3336,3336,3336,3336,3336,4575,Fusion of midcervical facet joints,HPO,phenotype,PHENOTYPE_3336
3337,3337,3337,3337,3337,3337,3337,3337,11820,Membranous choanal atresia,HPO,phenotype,PHENOTYPE_3337
3338,3338,3338,3338,3338,3338,3338,3338,1882,Leukopenia,HPO,phenotype,PHENOTYPE_3338
3339,3339,3339,3339,3339,3339,3339,3339,33009,Increased fecal coproporphyrin 1,HPO,phenotype,PHENOTYPE_3339
3340,3340,3340,3340,3340,3340,3340,3340,6000131,Dacrolith,HPO,phenotype,PHENOTYPE_3340
3341,3341,3341,3341,3341,3341,3341,3341,430063,Anti-chlamydia trachomatis-specific antibody positivity,HPO,phenotype,PHENOTYPE_3341
3342,3342,3342,3342,3342,3342,3342,3342,7341,Diffuse swelling of cerebral white matter,HPO,phenotype,PHENOTYPE_3342
3343,3343,3343,3343,3343,3343,3343,3343,2027,Abdominal pain,HPO,phenotype,PHENOTYPE_3343
3344,3344,3344,3344,3344,3344,3344,3344,4938,Tortuous cerebral arteries,HPO,phenotype,PHENOTYPE_3344
3345,3345,3345,3345,3345,3345,3345,3345,8804,Broad femoral head,HPO,phenotype,PHENOTYPE_3345
3346,3346,3346,3346,3346,3346,3346,3346,6000740,Anti-Francisella tularensis antibody positivity,HPO,phenotype,PHENOTYPE_3346
3347,3347,3347,3347,3347,3347,3347,3347,460,Narrow nose,HPO,phenotype,PHENOTYPE_3347
3348,3348,3348,3348,3348,3348,3348,3348,6001139,Upper arm pain,HPO,phenotype,PHENOTYPE_3348
3349,3349,3349,3349,3349,3349,3349,3349,32984,Abnormal alveolar macrophage morphology,HPO,phenotype,PHENOTYPE_3349
3350,3350,3350,3350,3350,3350,3350,3350,11085,Hypomature dental enamel,HPO,phenotype,PHENOTYPE_3350
3351,3351,3351,3351,3351,3351,3351,3351,6,Autosomal dominant inheritance,HPO,phenotype,PHENOTYPE_3351
3352,3352,3352,3352,3352,3352,3352,3352,33532,Decreased cardiac output,HPO,phenotype,PHENOTYPE_3352
3353,3353,3353,3353,3353,3353,3353,3353,20134,Increased urine neutrophil count,HPO,phenotype,PHENOTYPE_3353
3354,3354,3354,3354,3354,3354,3354,3354,500153,Hyperargininemia,HPO,phenotype,PHENOTYPE_3354
3355,3355,3355,3355,3355,3355,3355,3355,9710,Chilblains,HPO,phenotype,PHENOTYPE_3355
3356,3356,3356,3356,3356,3356,3356,3356,25608,Cicatricial ectropion,HPO,phenotype,PHENOTYPE_3356
3357,3357,3357,3357,3357,3357,3357,3357,5820,Superior rib anomalies,HPO,phenotype,PHENOTYPE_3357
3358,3358,3358,3358,3358,3358,3358,3358,33949,Arcuate artery intima/media granulomatous arteriitis,HPO,phenotype,PHENOTYPE_3358
3359,3359,3359,3359,3359,3359,3359,3359,100634,Neuroendocrine neoplasm,HPO,phenotype,PHENOTYPE_3359
3360,3360,3360,3360,3360,3360,3360,3360,410361,Decreased core 1 O-glycan level,HPO,phenotype,PHENOTYPE_3360
3361,3361,3361,3361,3361,3361,3361,3361,4060,Trident hand,HPO,phenotype,PHENOTYPE_3361
3362,3362,3362,3362,3362,3362,3362,3362,30752,Dacryocystocele,HPO,phenotype,PHENOTYPE_3362
3363,3363,3363,3363,3363,3363,3363,3363,32906,Focal head nodding automatism seizure,HPO,phenotype,PHENOTYPE_3363
3364,3364,3364,3364,3364,3364,3364,3364,5039,Multiple long-bone exostoses,HPO,phenotype,PHENOTYPE_3364
3365,3365,3365,3365,3365,3365,3365,3365,707,Abnormality of the nervous system,HPO,phenotype,PHENOTYPE_3365
3366,3366,3366,3366,3366,3366,3366,3366,100120,Stippling of the epiphysis of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_3366
3367,3367,3367,3367,3367,3367,3367,3367,3691,Scapular winging,HPO,phenotype,PHENOTYPE_3367
3368,3368,3368,3368,3368,3368,3368,3368,12624,Stage 2 chronic kidney disease,HPO,phenotype,PHENOTYPE_3368
3369,3369,3369,3369,3369,3369,3369,3369,30917,Low APGAR score,HPO,phenotype,PHENOTYPE_3369
3370,3370,3370,3370,3370,3370,3370,3370,410300,Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine,HPO,phenotype,PHENOTYPE_3370
3371,3371,3371,3371,3371,3371,3371,3371,34913,Acrosomal hypoplasia,HPO,phenotype,PHENOTYPE_3371
3372,3372,3372,3372,3372,3372,3372,3372,32172,Air crescent sign,HPO,phenotype,PHENOTYPE_3372
3373,3373,3373,3373,3373,3373,3373,3373,31994,Bronchial breath sound,HPO,phenotype,PHENOTYPE_3373
3374,3374,3374,3374,3374,3374,3374,3374,10885,Avascular necrosis,HPO,phenotype,PHENOTYPE_3374
3375,3375,3375,3375,3375,3375,3375,3375,8169,Reduced factor VII activity,HPO,phenotype,PHENOTYPE_3375
3376,3376,3376,3376,3376,3376,3376,3376,12555,Absent nail of hallux,HPO,phenotype,PHENOTYPE_3376
3377,3377,3377,3377,3377,3377,3377,3377,10524,Disturbed sensory perception,HPO,phenotype,PHENOTYPE_3377
3378,3378,3378,3378,3378,3378,3378,3378,9108,Aplasia/Hypoplasia involving the femoral head and neck,HPO,phenotype,PHENOTYPE_3378
3379,3379,3379,3379,3379,3379,3379,3379,31138,Abnormal circulating B-type natriuretic peptide concentration,HPO,phenotype,PHENOTYPE_3379
3380,3380,3380,3380,3380,3380,3380,3380,40237,Impaired binding of factor VIII to VWF,HPO,phenotype,PHENOTYPE_3380
3381,3381,3381,3381,3381,3381,3381,3381,9269,Small epiphysis of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_3381
3382,3382,3382,3382,3382,3382,3382,3382,41052,Agenesis of putamen,HPO,phenotype,PHENOTYPE_3382
3383,3383,3383,3383,3383,3383,3383,3383,4308,Ventricular arrhythmia,HPO,phenotype,PHENOTYPE_3383
3384,3384,3384,3384,3384,3384,3384,3384,7854,Glaucomatous visual field defect,HPO,phenotype,PHENOTYPE_3384
3385,3385,3385,3385,3385,3385,3385,3385,34299,Sertoli cell-only phenotype,HPO,phenotype,PHENOTYPE_3385
3386,3386,3386,3386,3386,3386,3386,3386,287,Increased facial adipose tissue,HPO,phenotype,PHENOTYPE_3386
3387,3387,3387,3387,3387,3387,3387,3387,4247,Small scaphoid,HPO,phenotype,PHENOTYPE_3387
3388,3388,3388,3388,3388,3388,3388,3388,12714,Severe hearing impairment,HPO,phenotype,PHENOTYPE_3388
3389,3389,3389,3389,3389,3389,3389,3389,20296,Germinal center B-lymphocyte BCL2 expression,HPO,phenotype,PHENOTYPE_3389
3390,3390,3390,3390,3390,3390,3390,3390,12701,Bowel urgency,HPO,phenotype,PHENOTYPE_3390
3391,3391,3391,3391,3391,3391,3391,3391,5632,Absent forearm,HPO,phenotype,PHENOTYPE_3391
3392,3392,3392,3392,3392,3392,3392,3392,30618,Increased OCT-measured foveal thickness,HPO,phenotype,PHENOTYPE_3392
3393,3393,3393,3393,3393,3393,3393,3393,1872,Abnormality of thrombocytes,HPO,phenotype,PHENOTYPE_3393
3394,3394,3394,3394,3394,3394,3394,3394,100274,Gustatory lacrimation,HPO,phenotype,PHENOTYPE_3394
3395,3395,3395,3395,3395,3395,3395,3395,6000489,Abnormal circulating fibroblast growth factor 23 concentration,HPO,phenotype,PHENOTYPE_3395
3396,3396,3396,3396,3396,3396,3396,3396,33057,Decreased circulating terminal complement component concentration,HPO,phenotype,PHENOTYPE_3396
3397,3397,3397,3397,3397,3397,3397,3397,31748,Abnormal vertical rectus muscle physiology,HPO,phenotype,PHENOTYPE_3397
3398,3398,3398,3398,3398,3398,3398,3398,31929,Perivascular pseudorosette,HPO,phenotype,PHENOTYPE_3398
3399,3399,3399,3399,3399,3399,3399,3399,8242,Pseudohypoaldosteronism,HPO,phenotype,PHENOTYPE_3399
3400,3400,3400,3400,3400,3400,3400,3400,3166,Increased urinary taurine,HPO,phenotype,PHENOTYPE_3400
3401,3401,3401,3401,3401,3401,3401,3401,3719,Muscle mounding,HPO,phenotype,PHENOTYPE_3401
3402,3402,3402,3402,3402,3402,3402,3402,41218,Fractured distal phalanx,HPO,phenotype,PHENOTYPE_3402
3403,3403,3403,3403,3403,3403,3403,3403,30107,Reduced muscle fiber beta sarcoglycan,HPO,phenotype,PHENOTYPE_3403
3404,3404,3404,3404,3404,3404,3404,3404,7488,Diffuse skin atrophy,HPO,phenotype,PHENOTYPE_3404
3405,3405,3405,3405,3405,3405,3405,3405,12503,Abnormal pituitary gland morphology,HPO,phenotype,PHENOTYPE_3405
3406,3406,3406,3406,3406,3406,3406,3406,31466,Impairment in personality functioning,HPO,phenotype,PHENOTYPE_3406
3407,3407,3407,3407,3407,3407,3407,3407,9622,Distally placed thumb,HPO,phenotype,PHENOTYPE_3407
3408,3408,3408,3408,3408,3408,3408,3408,34308,Prolonged P wave,HPO,phenotype,PHENOTYPE_3408
3409,3409,3409,3409,3409,3409,3409,3409,33930,Arcuate artery endoarterial lymphocyte hypercellularity,HPO,phenotype,PHENOTYPE_3409
3410,3410,3410,3410,3410,3410,3410,3410,6000715,Central giant cell lesion of the jaw,HPO,phenotype,PHENOTYPE_3410
3411,3411,3411,3411,3411,3411,3411,3411,3581,Adult onset,HPO,phenotype,PHENOTYPE_3411
3412,3412,3412,3412,3412,3412,3412,3412,25200,Muscle fiber actin filament accumulation,HPO,phenotype,PHENOTYPE_3412
3413,3413,3413,3413,3413,3413,3413,3413,12079,Abnormality of central motor conduction,HPO,phenotype,PHENOTYPE_3413
3414,3414,3414,3414,3414,3414,3414,3414,10322,Abnormal fifth toe morphology,HPO,phenotype,PHENOTYPE_3414
3415,3415,3415,3415,3415,3415,3415,3415,616,Miosis,HPO,phenotype,PHENOTYPE_3415
3416,3416,3416,3416,3416,3416,3416,3416,7333,Hypoplasia of the frontal lobes,HPO,phenotype,PHENOTYPE_3416
3417,3417,3417,3417,3417,3417,3417,3417,143,Rectovaginal fistula,HPO,phenotype,PHENOTYPE_3417
3418,3418,3418,3418,3418,3418,3418,3418,100366,Short phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_3418
3419,3419,3419,3419,3419,3419,3419,3419,30772,Proximal femoral focal deficiency,HPO,phenotype,PHENOTYPE_3419
3420,3420,3420,3420,3420,3420,3420,3420,500018,Abnormal cardiac exercise stress test,HPO,phenotype,PHENOTYPE_3420
3421,3421,3421,3421,3421,3421,3421,3421,10989,Abnormality of the intrinsic pathway,HPO,phenotype,PHENOTYPE_3421
3422,3422,3422,3422,3422,3422,3422,3422,12702,Tenesmus,HPO,phenotype,PHENOTYPE_3422
3423,3423,3423,3423,3423,3423,3423,3423,100187,Pseudoepiphysis of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_3423
3424,3424,3424,3424,3424,3424,3424,3424,9295,Short middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_3424
3425,3425,3425,3425,3425,3425,3425,3425,8954,Intrinsic hand muscle atrophy,HPO,phenotype,PHENOTYPE_3425
3426,3426,3426,3426,3426,3426,3426,3426,4207,Abnormal 5th finger morphology,HPO,phenotype,PHENOTYPE_3426
3427,3427,3427,3427,3427,3427,3427,3427,9653,Curved thumb phalanx,HPO,phenotype,PHENOTYPE_3427
3428,3428,3428,3428,3428,3428,3428,3428,6000667,Right ventricular aneurysm,HPO,phenotype,PHENOTYPE_3428
3429,3429,3429,3429,3429,3429,3429,3429,33894,Renal arteriolar intraluminal thrombi,HPO,phenotype,PHENOTYPE_3429
3430,3430,3430,3430,3430,3430,3430,3430,4987,Mesomelic leg shortening,HPO,phenotype,PHENOTYPE_3430
3431,3431,3431,3431,3431,3431,3431,3431,31840,Urine xenobiotic,HPO,phenotype,PHENOTYPE_3431
3432,3432,3432,3432,3432,3432,3432,3432,100272,Branchial sinus,HPO,phenotype,PHENOTYPE_3432
3433,3433,3433,3433,3433,3433,3433,3433,4327,Abnormal vitreous humor morphology,HPO,phenotype,PHENOTYPE_3433
3434,3434,3434,3434,3434,3434,3434,3434,20293,Decreased lymph-node cellular CD19 expression,HPO,phenotype,PHENOTYPE_3434
3435,3435,3435,3435,3435,3435,3435,3435,1450,Y-linked inheritance,HPO,phenotype,PHENOTYPE_3435
3436,3436,3436,3436,3436,3436,3436,3436,500069,Paralytic ectropion,HPO,phenotype,PHENOTYPE_3436
3437,3437,3437,3437,3437,3437,3437,3437,5329,Fixed facial expression,HPO,phenotype,PHENOTYPE_3437
3438,3438,3438,3438,3438,3438,3438,3438,7587,Numerous pigmented freckles,HPO,phenotype,PHENOTYPE_3438
3439,3439,3439,3439,3439,3439,3439,3439,31431,Persistent repetition of sounds,HPO,phenotype,PHENOTYPE_3439
3440,3440,3440,3440,3440,3440,3440,3440,1338,Partial agenesis of the corpus callosum,HPO,phenotype,PHENOTYPE_3440
3441,3441,3441,3441,3441,3441,3441,3441,9073,Progressive proximal muscle weakness,HPO,phenotype,PHENOTYPE_3441
3442,3442,3442,3442,3442,3442,3442,3442,31535,Increased theta frequency activity in EEG,HPO,phenotype,PHENOTYPE_3442
3443,3443,3443,3443,3443,3443,3443,3443,33706,Progressive massive fibrosis,HPO,phenotype,PHENOTYPE_3443
3444,3444,3444,3444,3444,3444,3444,3444,32332,Oligoclonal elevation of circulating IgM,HPO,phenotype,PHENOTYPE_3444
3445,3445,3445,3445,3445,3445,3445,3445,526,Aniridia,HPO,phenotype,PHENOTYPE_3445
3446,3446,3446,3446,3446,3446,3446,3446,10517,Ectopic thymus tissue,HPO,phenotype,PHENOTYPE_3446
3447,3447,3447,3447,3447,3447,3447,3447,8396,Chronic monilial nail infection,HPO,phenotype,PHENOTYPE_3447
3448,3448,3448,3448,3448,3448,3448,3448,100926,Sclerosis of 2nd toe phalanx,HPO,phenotype,PHENOTYPE_3448
3449,3449,3449,3449,3449,3449,3449,3449,3616,Premature separation of centromeric heterochromatin,HPO,phenotype,PHENOTYPE_3449
3450,3450,3450,3450,3450,3450,3450,3450,32778,Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena,HPO,phenotype,PHENOTYPE_3450
3451,3451,3451,3451,3451,3451,3451,3451,33016,Chronic decreased circulating IgD,HPO,phenotype,PHENOTYPE_3451
3452,3452,3452,3452,3452,3452,3452,3452,5731,Cortical irregularity,HPO,phenotype,PHENOTYPE_3452
3453,3453,3453,3453,3453,3453,3453,3453,340,Sloping forehead,HPO,phenotype,PHENOTYPE_3453
3454,3454,3454,3454,3454,3454,3454,3454,11304,Broad thumb,HPO,phenotype,PHENOTYPE_3454
3455,3455,3455,3455,3455,3455,3455,3455,100946,Sclerosis of proximal toe phalanx,HPO,phenotype,PHENOTYPE_3455
3456,3456,3456,3456,3456,3456,3456,3456,6000713,Hepatic reticuloendothelial system cell iron deposition,HPO,phenotype,PHENOTYPE_3456
3457,3457,3457,3457,3457,3457,3457,3457,12061,Urinary excretion of sialylated oligosaccharides,HPO,phenotype,PHENOTYPE_3457
3458,3458,3458,3458,3458,3458,3458,3458,9288,Curved proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_3458
3459,3459,3459,3459,3459,3459,3459,3459,32136,Decreased circulating IgG1 concentration,HPO,phenotype,PHENOTYPE_3459
3460,3460,3460,3460,3460,3460,3460,3460,410276,Supraumbilical raphe,HPO,phenotype,PHENOTYPE_3460
3461,3461,3461,3461,3461,3461,3461,3461,7466,Midfrontal capillary hemangioma,HPO,phenotype,PHENOTYPE_3461
3462,3462,3462,3462,3462,3462,3462,3462,1637,Abnormal myocardium morphology,HPO,phenotype,PHENOTYPE_3462
3463,3463,3463,3463,3463,3463,3463,3463,11429,Short fetal humerus length,HPO,phenotype,PHENOTYPE_3463
3464,3464,3464,3464,3464,3464,3464,3464,372,Abnormal auditory canal morphology,HPO,phenotype,PHENOTYPE_3464
3465,3465,3465,3465,3465,3465,3465,3465,12858,Decreased scrotal rugation,HPO,phenotype,PHENOTYPE_3465
3466,3466,3466,3466,3466,3466,3466,3466,11024,Abnormality of the gastrointestinal tract,HPO,phenotype,PHENOTYPE_3466
3467,3467,3467,3467,3467,3467,3467,3467,2979,Bowing of the legs,HPO,phenotype,PHENOTYPE_3467
3468,3468,3468,3468,3468,3468,3468,3468,31985,Esophageal exudate,HPO,phenotype,PHENOTYPE_3468
3469,3469,3469,3469,3469,3469,3469,3469,31140,Abnormal liver sonography,HPO,phenotype,PHENOTYPE_3469
3470,3470,3470,3470,3470,3470,3470,3470,12358,Abnormal protein O-linked glycosylation,HPO,phenotype,PHENOTYPE_3470
3471,3471,3471,3471,3471,3471,3471,3471,10082,Symphalangism affecting the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_3471
3472,3472,3472,3472,3472,3472,3472,3472,33946,Arcuate vein intima/media crystal accumulation,HPO,phenotype,PHENOTYPE_3472
3473,3473,3473,3473,3473,3473,3473,3473,33848,Receptive aphasia,HPO,phenotype,PHENOTYPE_3473
3474,3474,3474,3474,3474,3474,3474,3474,6000643,Anti-lamin A antibody positivity,HPO,phenotype,PHENOTYPE_3474
3475,3475,3475,3475,3475,3475,3475,3475,6095,Wide tufts of distal phalanges,HPO,phenotype,PHENOTYPE_3475
3476,3476,3476,3476,3476,3476,3476,3476,31680,Type II atherosclerotic lesion,HPO,phenotype,PHENOTYPE_3476
3477,3477,3477,3477,3477,3477,3477,3477,34998,Femoral artery duplication,HPO,phenotype,PHENOTYPE_3477
3478,3478,3478,3478,3478,3478,3478,3478,10777,Bronchomegaly,HPO,phenotype,PHENOTYPE_3478
3479,3479,3479,3479,3479,3479,3479,3479,33047,Body ache,HPO,phenotype,PHENOTYPE_3479
3480,3480,3480,3480,3480,3480,3480,3480,9786,Aplasia/Hypoplasia of the musculature of the thigh,HPO,phenotype,PHENOTYPE_3480
3481,3481,3481,3481,3481,3481,3481,3481,30517,Heteronymous hemianopia,HPO,phenotype,PHENOTYPE_3481
3482,3482,3482,3482,3482,3482,3482,3482,2655,Spondyloepiphyseal dysplasia,HPO,phenotype,PHENOTYPE_3482
3483,3483,3483,3483,3483,3483,3483,3483,7623,Pigmentation anomalies of sun-exposed skin,HPO,phenotype,PHENOTYPE_3483
3484,3484,3484,3484,3484,3484,3484,3484,9505,Enlarged epiphysis of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_3484
3485,3485,3485,3485,3485,3485,3485,3485,11716,Junctional ectopic tachycardia,HPO,phenotype,PHENOTYPE_3485
3486,3486,3486,3486,3486,3486,3486,3486,11842,Abnormal skeletal morphology,HPO,phenotype,PHENOTYPE_3486
3487,3487,3487,3487,3487,3487,3487,3487,31731,Increased tear production,HPO,phenotype,PHENOTYPE_3487
3488,3488,3488,3488,3488,3488,3488,3488,3648,Lacticaciduria,HPO,phenotype,PHENOTYPE_3488
3489,3489,3489,3489,3489,3489,3489,3489,8453,Congenital kyphoscoliosis,HPO,phenotype,PHENOTYPE_3489
3490,3490,3490,3490,3490,3490,3490,3490,33192,Decreased circulating selenium concentration,HPO,phenotype,PHENOTYPE_3490
3491,3491,3491,3491,3491,3491,3491,3491,6646,Costal cartilage calcification,HPO,phenotype,PHENOTYPE_3491
3492,3492,3492,3492,3492,3492,3492,3492,32085,Aortic elastic fiber disorganization,HPO,phenotype,PHENOTYPE_3492
3493,3493,3493,3493,3493,3493,3493,3493,34611,Elevated circulating arabinitol concentration,HPO,phenotype,PHENOTYPE_3493
3494,3494,3494,3494,3494,3494,3494,3494,10516,Thymus hyperplasia,HPO,phenotype,PHENOTYPE_3494
3495,3495,3495,3495,3495,3495,3495,3495,4887,Respiratory failure requiring assisted ventilation,HPO,phenotype,PHENOTYPE_3495
3496,3496,3496,3496,3496,3496,3496,3496,6000921,Fibular torsion,HPO,phenotype,PHENOTYPE_3496
3497,3497,3497,3497,3497,3497,3497,3497,6913,Frontal cortical atrophy,HPO,phenotype,PHENOTYPE_3497
3498,3498,3498,3498,3498,3498,3498,3498,10666,Hypoplasia of the anterior nasal spine,HPO,phenotype,PHENOTYPE_3498
3499,3499,3499,3499,3499,3499,3499,3499,45051,Decreased DLCO,HPO,phenotype,PHENOTYPE_3499
3500,3500,3500,3500,3500,3500,3500,3500,6955,Olivopontocerebellar hypoplasia,HPO,phenotype,PHENOTYPE_3500
3501,3501,3501,3501,3501,3501,3501,3501,7250,Recurrent external ophthalmoplegia,HPO,phenotype,PHENOTYPE_3501
3502,3502,3502,3502,3502,3502,3502,3502,34928,Decreased muscle lipoic acid content,HPO,phenotype,PHENOTYPE_3502
3503,3503,3503,3503,3503,3503,3503,3503,33011,Platystencephaly,HPO,phenotype,PHENOTYPE_3503
3504,3504,3504,3504,3504,3504,3504,3504,1251,Ataxia,HPO,phenotype,PHENOTYPE_3504
3505,3505,3505,3505,3505,3505,3505,3505,430109,Positive bloodstream infectious agent antigen test,HPO,phenotype,PHENOTYPE_3505
3506,3506,3506,3506,3506,3506,3506,3506,30803,Platonychia,HPO,phenotype,PHENOTYPE_3506
3507,3507,3507,3507,3507,3507,3507,3507,6001128,History of recent participation in athletics,HPO,phenotype,PHENOTYPE_3507
3508,3508,3508,3508,3508,3508,3508,3508,33515,Addictive opioid use,HPO,phenotype,PHENOTYPE_3508
3509,3509,3509,3509,3509,3509,3509,3509,3557,Increased variability in muscle fiber diameter,HPO,phenotype,PHENOTYPE_3509
3510,3510,3510,3510,3510,3510,3510,3510,8404,Nail dystrophy,HPO,phenotype,PHENOTYPE_3510
3511,3511,3511,3511,3511,3511,3511,3511,6000071,Heterotopic dermal ossification,HPO,phenotype,PHENOTYPE_3511
3512,3512,3512,3512,3512,3512,3512,3512,100428,Broad proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_3512
3513,3513,3513,3513,3513,3513,3513,3513,2133,Status epilepticus,HPO,phenotype,PHENOTYPE_3513
3514,3514,3514,3514,3514,3514,3514,3514,25421,Pneumomediastinum,HPO,phenotype,PHENOTYPE_3514
3515,3515,3515,3515,3515,3515,3515,3515,6001151,Triangular lunate bone,HPO,phenotype,PHENOTYPE_3515
3516,3516,3516,3516,3516,3516,3516,3516,6000793,Eschar,HPO,phenotype,PHENOTYPE_3516
3517,3517,3517,3517,3517,3517,3517,3517,33082,Reduced TSH response to thyrotrophin-releasing hormone stimulation test,HPO,phenotype,PHENOTYPE_3517
3518,3518,3518,3518,3518,3518,3518,3518,1939,Abnormality of metabolism/homeostasis,HPO,phenotype,PHENOTYPE_3518
3519,3519,3519,3519,3519,3519,3519,3519,40317,Blue urine,HPO,phenotype,PHENOTYPE_3519
3520,3520,3520,3520,3520,3520,3520,3520,211,Trismus,HPO,phenotype,PHENOTYPE_3520
3521,3521,3521,3521,3521,3521,3521,3521,6342,Peg-shaped maxillary lateral incisors,HPO,phenotype,PHENOTYPE_3521
3522,3522,3522,3522,3522,3522,3522,3522,32241,Cervical neoplasm,HPO,phenotype,PHENOTYPE_3522
3523,3523,3523,3523,3523,3523,3523,3523,3128,Lactic acidosis,HPO,phenotype,PHENOTYPE_3523
3524,3524,3524,3524,3524,3524,3524,3524,9471,Contracture of the proximal interphalangeal joint of the 3rd finger,HPO,phenotype,PHENOTYPE_3524
3525,3525,3525,3525,3525,3525,3525,3525,6000541,Positive cutaneous herpes simplex virus nucleic acid test,HPO,phenotype,PHENOTYPE_3525
3526,3526,3526,3526,3526,3526,3526,3526,6000129,Elevated urinary glutarylglycine level,HPO,phenotype,PHENOTYPE_3526
3527,3527,3527,3527,3527,3527,3527,3527,9802,Aplasia of the phalanges of the hand,HPO,phenotype,PHENOTYPE_3527
3528,3528,3528,3528,3528,3528,3528,3528,6808,Cerebral hypomyelination,HPO,phenotype,PHENOTYPE_3528
3529,3529,3529,3529,3529,3529,3529,3529,200013,Neoplasm of fatty tissue,HPO,phenotype,PHENOTYPE_3529
3530,3530,3530,3530,3530,3530,3530,3530,8801,Hypoplasia of the lesser trochanter,HPO,phenotype,PHENOTYPE_3530
3531,3531,3531,3531,3531,3531,3531,3531,8095,Osteolysis of talus,HPO,phenotype,PHENOTYPE_3531
3532,3532,3532,3532,3532,3532,3532,3532,5726,Thumbs hypoplastic with bulbous tips,HPO,phenotype,PHENOTYPE_3532
3533,3533,3533,3533,3533,3533,3533,3533,34502,Narrow mediastinum,HPO,phenotype,PHENOTYPE_3533
3534,3534,3534,3534,3534,3534,3534,3534,33840,Postmenopausal bleeding,HPO,phenotype,PHENOTYPE_3534
3535,3535,3535,3535,3535,3535,3535,3535,500187,Increased CSF valine concentration,HPO,phenotype,PHENOTYPE_3535
3536,3536,3536,3536,3536,3536,3536,3536,31385,Megakaryocyte nucleus hypolobulation,HPO,phenotype,PHENOTYPE_3536
3537,3537,3537,3537,3537,3537,3537,3537,6000744,Premature glabellar skin wrinkling,HPO,phenotype,PHENOTYPE_3537
3538,3538,3538,3538,3538,3538,3538,3538,100832,Vitreous floaters,HPO,phenotype,PHENOTYPE_3538
3539,3539,3539,3539,3539,3539,3539,3539,620,Dacryocystitis,HPO,phenotype,PHENOTYPE_3539
3540,3540,3540,3540,3540,3540,3540,3540,30084,Clinodactyly,HPO,phenotype,PHENOTYPE_3540
3541,3541,3541,3541,3541,3541,3541,3541,12634,Iris pigment dispersion,HPO,phenotype,PHENOTYPE_3541
3542,3542,3542,3542,3542,3542,3542,3542,30855,Anterior staphyloma,HPO,phenotype,PHENOTYPE_3542
3543,3543,3543,3543,3543,3543,3543,3543,31195,Apical hypertrabeculation of the left ventricle,HPO,phenotype,PHENOTYPE_3543
3544,3544,3544,3544,3544,3544,3544,3544,6001042,Twisted gallbladder pedicle,HPO,phenotype,PHENOTYPE_3544
3545,3545,3545,3545,3545,3545,3545,3545,31117,Purely bicuspid aortic valve,HPO,phenotype,PHENOTYPE_3545
3546,3546,3546,3546,3546,3546,3546,3546,33128,Delayed ability to crawl,HPO,phenotype,PHENOTYPE_3546
3547,3547,3547,3547,3547,3547,3547,3547,30798,Abnormality of the bed nucleus of stria terminalis,HPO,phenotype,PHENOTYPE_3547
3548,3548,3548,3548,3548,3548,3548,3548,6583,Fatal liver failure in infancy,HPO,phenotype,PHENOTYPE_3548
3549,3549,3549,3549,3549,3549,3549,3549,5423,Dysfunctional alternative complement pathway,HPO,phenotype,PHENOTYPE_3549
3550,3550,3550,3550,3550,3550,3550,3550,100338,Non-midline cleft palate,HPO,phenotype,PHENOTYPE_3550
3551,3551,3551,3551,3551,3551,3551,3551,31012,Thin-cap fibroatheroma,HPO,phenotype,PHENOTYPE_3551
3552,3552,3552,3552,3552,3552,3552,3552,200003,Splayed epiphyses,HPO,phenotype,PHENOTYPE_3552
3553,3553,3553,3553,3553,3553,3553,3553,100446,Curved proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_3553
3554,3554,3554,3554,3554,3554,3554,3554,30201,Response to drugs acting on neuromuscular transmission,HPO,phenotype,PHENOTYPE_3554
3555,3555,3555,3555,3555,3555,3555,3555,11505,Cystoid macular edema,HPO,phenotype,PHENOTYPE_3555
3556,3556,3556,3556,3556,3556,3556,3556,500209,Abnormal CSF methionine concentration,HPO,phenotype,PHENOTYPE_3556
3557,3557,3557,3557,3557,3557,3557,3557,500243,Abnormal CSF ornithine concentration,HPO,phenotype,PHENOTYPE_3557
3558,3558,3558,3558,3558,3558,3558,3558,34505,Gallbladder wall thickening,HPO,phenotype,PHENOTYPE_3558
3559,3559,3559,3559,3559,3559,3559,3559,6001070,Subdural hygroma,HPO,phenotype,PHENOTYPE_3559
3560,3560,3560,3560,3560,3560,3560,3560,9141,Depletion of mitochondrial DNA in muscle tissue,HPO,phenotype,PHENOTYPE_3560
3561,3561,3561,3561,3561,3561,3561,3561,4364,Abnormal circulating nitrogen compound concentration,HPO,phenotype,PHENOTYPE_3561
3562,3562,3562,3562,3562,3562,3562,3562,100425,Broad middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_3562
3563,3563,3563,3563,3563,3563,3563,3563,100254,Stenosis of the medullary cavity of the long bones,HPO,phenotype,PHENOTYPE_3563
3564,3564,3564,3564,3564,3564,3564,3564,500143,Hypoleucinemia,HPO,phenotype,PHENOTYPE_3564
3565,3565,3565,3565,3565,3565,3565,3565,25452,Pyoderma gangrenosum,HPO,phenotype,PHENOTYPE_3565
3566,3566,3566,3566,3566,3566,3566,3566,10300,Abnormally low-pitched voice,HPO,phenotype,PHENOTYPE_3566
3567,3567,3567,3567,3567,3567,3567,3567,11408,Moderate intrauterine growth retardation,HPO,phenotype,PHENOTYPE_3567
3568,3568,3568,3568,3568,3568,3568,3568,33368,Platypnea,HPO,phenotype,PHENOTYPE_3568
3569,3569,3569,3569,3569,3569,3569,3569,7906,Ocular hypertension,HPO,phenotype,PHENOTYPE_3569
3570,3570,3570,3570,3570,3570,3570,3570,11402,Demyelinating sensory neuropathy,HPO,phenotype,PHENOTYPE_3570
3571,3571,3571,3571,3571,3571,3571,3571,5476,Widely patent sagittal suture,HPO,phenotype,PHENOTYPE_3571
3572,3572,3572,3572,3572,3572,3572,3572,9410,Absent epiphyses of the 3rd finger,HPO,phenotype,PHENOTYPE_3572
3573,3573,3573,3573,3573,3573,3573,3573,6887,"Intellectual disability, progressive",HPO,phenotype,PHENOTYPE_3573
3574,3574,3574,3574,3574,3574,3574,3574,32994,Supernumerary pulmonary fissure,HPO,phenotype,PHENOTYPE_3574
3575,3575,3575,3575,3575,3575,3575,3575,100576,Amaurosis fugax,HPO,phenotype,PHENOTYPE_3575
3576,3576,3576,3576,3576,3576,3576,3576,410209,Folate deficiency in CSF,HPO,phenotype,PHENOTYPE_3576
3577,3577,3577,3577,3577,3577,3577,3577,30452,Chylolymphatic mesenteric cyst,HPO,phenotype,PHENOTYPE_3577
3578,3578,3578,3578,3578,3578,3578,3578,6000538,Poorly demarcated skin lesion,HPO,phenotype,PHENOTYPE_3578
3579,3579,3579,3579,3579,3579,3579,3579,9648,Triangular shaped distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_3579
3580,3580,3580,3580,3580,3580,3580,3580,2231,Sparse body hair,HPO,phenotype,PHENOTYPE_3580
3581,3581,3581,3581,3581,3581,3581,3581,33603,Glomerular subepithelial deposits,HPO,phenotype,PHENOTYPE_3581
3582,3582,3582,3582,3582,3582,3582,3582,234,Abnormality of the head,HPO,phenotype,PHENOTYPE_3582
3583,3583,3583,3583,3583,3583,3583,3583,2345,Action tremor,HPO,phenotype,PHENOTYPE_3583
3584,3584,3584,3584,3584,3584,3584,3584,30400,Abnormal platelet lysosome secretion,HPO,phenotype,PHENOTYPE_3584
3585,3585,3585,3585,3585,3585,3585,3585,40147,L-2-hydroxyglutaric acidemia,HPO,phenotype,PHENOTYPE_3585
3586,3586,3586,3586,3586,3586,3586,3586,5200418,Folie à deux,HPO,phenotype,PHENOTYPE_3586
3587,3587,3587,3587,3587,3587,3587,3587,40333,Confluent hypointensity of cerebral white matter on MRI,HPO,phenotype,PHENOTYPE_3587
3588,3588,3588,3588,3588,3588,3588,3588,6529,Abnormal pulmonary lymphatics,HPO,phenotype,PHENOTYPE_3588
3589,3589,3589,3589,3589,3589,3589,3589,33962,Cortical radial artery medial/intimal granulomatous arteriitis,HPO,phenotype,PHENOTYPE_3589
3590,3590,3590,3590,3590,3590,3590,3590,35019,Elevated circulating C5 acylcarnitine concentration,HPO,phenotype,PHENOTYPE_3590
3591,3591,3591,3591,3591,3591,3591,3591,25080,Orthokeratotic hyperkeratosis,HPO,phenotype,PHENOTYPE_3591
3592,3592,3592,3592,3592,3592,3592,3592,32561,Microcephalic sperm head,HPO,phenotype,PHENOTYPE_3592
3593,3593,3593,3593,3593,3593,3593,3593,32344,Upslanting toenail,HPO,phenotype,PHENOTYPE_3593
3594,3594,3594,3594,3594,3594,3594,3594,32811,Neonatal electrographic only seizure,HPO,phenotype,PHENOTYPE_3594
3595,3595,3595,3595,3595,3595,3595,3595,10507,Foot asymmetry,HPO,phenotype,PHENOTYPE_3595
3596,3596,3596,3596,3596,3596,3596,3596,12477,Vocal tremor,HPO,phenotype,PHENOTYPE_3596
3597,3597,3597,3597,3597,3597,3597,3597,10334,Polydactyly affecting the 3rd toe,HPO,phenotype,PHENOTYPE_3597
3598,3598,3598,3598,3598,3598,3598,3598,4237,Large carpal bones,HPO,phenotype,PHENOTYPE_3598
3599,3599,3599,3599,3599,3599,3599,3599,25021,Abnormal erythrocyte sedimentation rate,HPO,phenotype,PHENOTYPE_3599
3600,3600,3600,3600,3600,3600,3600,3600,2907,Microscopic hematuria,HPO,phenotype,PHENOTYPE_3600
3601,3601,3601,3601,3601,3601,3601,3601,421,Epistaxis,HPO,phenotype,PHENOTYPE_3601
3602,3602,3602,3602,3602,3602,3602,3602,25520,Calcinosis cutis,HPO,phenotype,PHENOTYPE_3602
3603,3603,3603,3603,3603,3603,3603,3603,3938,Synostosis involving the elbow,HPO,phenotype,PHENOTYPE_3603
3604,3604,3604,3604,3604,3604,3604,3604,33957,Cortical radial artery neutrophil hypercellularity,HPO,phenotype,PHENOTYPE_3604
3605,3605,3605,3605,3605,3605,3605,3605,5013,Dysplastic distal radial epiphyses,HPO,phenotype,PHENOTYPE_3605
3606,3606,3606,3606,3606,3606,3606,3606,587,Abnormal optic nerve morphology,HPO,phenotype,PHENOTYPE_3606
3607,3607,3607,3607,3607,3607,3607,3607,2280,Enlarged cisterna magna,HPO,phenotype,PHENOTYPE_3607
3608,3608,3608,3608,3608,3608,3608,3608,33253,Reduced circulating interferon gamma concentration,HPO,phenotype,PHENOTYPE_3608
3609,3609,3609,3609,3609,3609,3609,3609,34339,Pseudoautosomal inheritance,HPO,phenotype,PHENOTYPE_3609
3610,3610,3610,3610,3610,3610,3610,3610,30284,Triangular tongue,HPO,phenotype,PHENOTYPE_3610
3611,3611,3611,3611,3611,3611,3611,3611,10120,Pseudoepiphyses of the hallux,HPO,phenotype,PHENOTYPE_3611
3612,3612,3612,3612,3612,3612,3612,3612,34747,CSF infectious agent,HPO,phenotype,PHENOTYPE_3612
3613,3613,3613,3613,3613,3613,3613,3613,25261,Stiff finger,HPO,phenotype,PHENOTYPE_3613
3614,3614,3614,3614,3614,3614,3614,3614,2580,Volvulus,HPO,phenotype,PHENOTYPE_3614
3615,3615,3615,3615,3615,3615,3615,3615,30138,Excessive bleeding from superficial cuts,HPO,phenotype,PHENOTYPE_3615
3616,3616,3616,3616,3616,3616,3616,3616,30115,Reduced muscle fiber dysferlin,HPO,phenotype,PHENOTYPE_3616
3617,3617,3617,3617,3617,3617,3617,3617,100702,Arachnoid cyst,HPO,phenotype,PHENOTYPE_3617
3618,3618,3618,3618,3618,3618,3618,3618,7915,Polymorphous posterior corneal dystrophy,HPO,phenotype,PHENOTYPE_3618
3619,3619,3619,3619,3619,3619,3619,3619,10041,Short 3rd metacarpal,HPO,phenotype,PHENOTYPE_3619
3620,3620,3620,3620,3620,3620,3620,3620,6414,Distal tibial bowing,HPO,phenotype,PHENOTYPE_3620
3621,3621,3621,3621,3621,3621,3621,3621,3904,Wide epiphyses of the upper limbs,HPO,phenotype,PHENOTYPE_3621
3622,3622,3622,3622,3622,3622,3622,3622,10109,Short hallux,HPO,phenotype,PHENOTYPE_3622
3623,3623,3623,3623,3623,3623,3623,3623,34273,Premature sagging cheeks,HPO,phenotype,PHENOTYPE_3623
3624,3624,3624,3624,3624,3624,3624,3624,2384,Focal impaired awareness seizure,HPO,phenotype,PHENOTYPE_3624
3625,3625,3625,3625,3625,3625,3625,3625,25719,Maternal vascular malperfusion,HPO,phenotype,PHENOTYPE_3625
3626,3626,3626,3626,3626,3626,3626,3626,430105,Skip lesions on temporal artery biopsy,HPO,phenotype,PHENOTYPE_3626
3627,3627,3627,3627,3627,3627,3627,3627,11457,Loss of eyelashes,HPO,phenotype,PHENOTYPE_3627
3628,3628,3628,3628,3628,3628,3628,3628,1986,Hypertonic dehydration,HPO,phenotype,PHENOTYPE_3628
3629,3629,3629,3629,3629,3629,3629,3629,33023,Chronic absent circulating IgE,HPO,phenotype,PHENOTYPE_3629
3630,3630,3630,3630,3630,3630,3630,3630,34156,Anti-beta-2-Glycoprotein I IgG antibody positivity,HPO,phenotype,PHENOTYPE_3630
3631,3631,3631,3631,3631,3631,3631,3631,11575,Imperforate tricuspid valve,HPO,phenotype,PHENOTYPE_3631
3632,3632,3632,3632,3632,3632,3632,3632,34249,Severe influenza infection,HPO,phenotype,PHENOTYPE_3632
3633,3633,3633,3633,3633,3633,3633,3633,6285,Enamel hypomineralization,HPO,phenotype,PHENOTYPE_3633
3634,3634,3634,3634,3634,3634,3634,3634,5035,Shortening of all phalanges of the toes,HPO,phenotype,PHENOTYPE_3634
3635,3635,3635,3635,3635,3635,3635,3635,10333,Flexion contracture of 3rd toe,HPO,phenotype,PHENOTYPE_3635
3636,3636,3636,3636,3636,3636,3636,3636,7215,Periodic hyperkalemic paralysis,HPO,phenotype,PHENOTYPE_3636
3637,3637,3637,3637,3637,3637,3637,3637,4906,Hypernatremic dehydration,HPO,phenotype,PHENOTYPE_3637
3638,3638,3638,3638,3638,3638,3638,3638,20274,Lymph-node lymphocyte monocytoid morphology,HPO,phenotype,PHENOTYPE_3638
3639,3639,3639,3639,3639,3639,3639,3639,12901,Myotonia of the jaw,HPO,phenotype,PHENOTYPE_3639
3640,3640,3640,3640,3640,3640,3640,3640,32845,Focal aware epileptic spasm,HPO,phenotype,PHENOTYPE_3640
3641,3641,3641,3641,3641,3641,3641,3641,4290,Sclerosis of hand bones with transverse striations,HPO,phenotype,PHENOTYPE_3641
3642,3642,3642,3642,3642,3642,3642,3642,31528,Subretinal deposits,HPO,phenotype,PHENOTYPE_3642
3643,3643,3643,3643,3643,3643,3643,3643,32991,Abnormal pulmonary fissure morphology,HPO,phenotype,PHENOTYPE_3643
3644,3644,3644,3644,3644,3644,3644,3644,32717,Focal impaired awareness motor seizure with dystonia,HPO,phenotype,PHENOTYPE_3644
3645,3645,3645,3645,3645,3645,3645,3645,6712,Aplasia/Hypoplasia of the ribs,HPO,phenotype,PHENOTYPE_3645
3646,3646,3646,3646,3646,3646,3646,3646,40236,Hyperfibrinolysis,HPO,phenotype,PHENOTYPE_3646
3647,3647,3647,3647,3647,3647,3647,3647,8083,2nd-5th toe middle phalangeal hypoplasia,HPO,phenotype,PHENOTYPE_3647
3648,3648,3648,3648,3648,3648,3648,3648,1572,Macrodontia,HPO,phenotype,PHENOTYPE_3648
3649,3649,3649,3649,3649,3649,3649,3649,2041,Intractable diarrhea,HPO,phenotype,PHENOTYPE_3649
3650,3650,3650,3650,3650,3650,3650,3650,7815,Abnormal distribution of retinal arterioles and venules,HPO,phenotype,PHENOTYPE_3650
3651,3651,3651,3651,3651,3651,3651,3651,31529,Focal subretinal deposits,HPO,phenotype,PHENOTYPE_3651
3652,3652,3652,3652,3652,3652,3652,3652,32616,Renal interstitial immunoglobulin deposits,HPO,phenotype,PHENOTYPE_3652
3653,3653,3653,3653,3653,3653,3653,3653,410292,Abnormal isohemagglutinin level,HPO,phenotype,PHENOTYPE_3653
3654,3654,3654,3654,3654,3654,3654,3654,11424,Increased serum zinc,HPO,phenotype,PHENOTYPE_3654
3655,3655,3655,3655,3655,3655,3655,3655,32532,Elevated CSF 4-hydroxybutyric acid concentration,HPO,phenotype,PHENOTYPE_3655
3656,3656,3656,3656,3656,3656,3656,3656,30507,Retinal crystals,HPO,phenotype,PHENOTYPE_3656
3657,3657,3657,3657,3657,3657,3657,3657,25600,Abnormal inferior rectus muscle physiology,HPO,phenotype,PHENOTYPE_3657
3658,3658,3658,3658,3658,3658,3658,3658,9346,Absent epiphysis of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_3658
3659,3659,3659,3659,3659,3659,3659,3659,34828,Reduced muscle laminin alpha-2 chain staining,HPO,phenotype,PHENOTYPE_3659
3660,3660,3660,3660,3660,3660,3660,3660,410321,Animal dander allergy,HPO,phenotype,PHENOTYPE_3660
3661,3661,3661,3661,3661,3661,3661,3661,10029,Curved 1st metacarpal,HPO,phenotype,PHENOTYPE_3661
3662,3662,3662,3662,3662,3662,3662,3662,2688,Absent frontal sinuses,HPO,phenotype,PHENOTYPE_3662
3663,3663,3663,3663,3663,3663,3663,3663,30739,Altman type III sacrococcygeal teratoma,HPO,phenotype,PHENOTYPE_3663
3664,3664,3664,3664,3664,3664,3664,3664,31407,Impaired cytokine signaling,HPO,phenotype,PHENOTYPE_3664
3665,3665,3665,3665,3665,3665,3665,3665,7178,Motor polyneuropathy,HPO,phenotype,PHENOTYPE_3665
3666,3666,3666,3666,3666,3666,3666,3666,6000749,Elevated circulating type I procollagen aminoterminal propeptide concentration,HPO,phenotype,PHENOTYPE_3666
3667,3667,3667,3667,3667,3667,3667,3667,32073,Aplasia of the fallopian tube,HPO,phenotype,PHENOTYPE_3667
3668,3668,3668,3668,3668,3668,3668,3668,7364,Aplasia/Hypoplasia of the cerebrum,HPO,phenotype,PHENOTYPE_3668
3669,3669,3669,3669,3669,3669,3669,3669,11449,Knee clonus,HPO,phenotype,PHENOTYPE_3669
3670,3670,3670,3670,3670,3670,3670,3670,6780,Parathyroid carcinoma,HPO,phenotype,PHENOTYPE_3670
3671,3671,3671,3671,3671,3671,3671,3671,25743,Elevated urine biliverdin level,HPO,phenotype,PHENOTYPE_3671
3672,3672,3672,3672,3672,3672,3672,3672,30666,Retinal neovascularization,HPO,phenotype,PHENOTYPE_3672
3673,3673,3673,3673,3673,3673,3673,3673,34617,Elevated circulating S-adenosyl methionine concentration,HPO,phenotype,PHENOTYPE_3673
3674,3674,3674,3674,3674,3674,3674,3674,100136,Bracket epiphysis of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_3674
3675,3675,3675,3675,3675,3675,3675,3675,34659,Elevated urine tiglylglycine level,HPO,phenotype,PHENOTYPE_3675
3676,3676,3676,3676,3676,3676,3676,3676,10003,Partial duplication of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_3676
3677,3677,3677,3677,3677,3677,3677,3677,4000117,Valproate exposure,HPO,phenotype,PHENOTYPE_3677
3678,3678,3678,3678,3678,3678,3678,3678,8509,Aged leonine appearance,HPO,phenotype,PHENOTYPE_3678
3679,3679,3679,3679,3679,3679,3679,3679,33106,Elevated circulating D-dimer concentration,HPO,phenotype,PHENOTYPE_3679
3680,3680,3680,3680,3680,3680,3680,3680,3199,Decreased muscle mass,HPO,phenotype,PHENOTYPE_3680
3681,3681,3681,3681,3681,3681,3681,3681,5518,Increased mean corpuscular volume,HPO,phenotype,PHENOTYPE_3681
3682,3682,3682,3682,3682,3682,3682,3682,31789,Against the rule astigmatism,HPO,phenotype,PHENOTYPE_3682
3683,3683,3683,3683,3683,3683,3683,3683,34567,Optic pit,HPO,phenotype,PHENOTYPE_3683
3684,3684,3684,3684,3684,3684,3684,3684,40411,Pain in penis,HPO,phenotype,PHENOTYPE_3684
3685,3685,3685,3685,3685,3685,3685,3685,7428,Telangiectasia of the oral mucosa,HPO,phenotype,PHENOTYPE_3685
3686,3686,3686,3686,3686,3686,3686,3686,31946,"Elevated urinary N,N-dimethylglycine level",HPO,phenotype,PHENOTYPE_3686
3687,3687,3687,3687,3687,3687,3687,3687,11766,Abnormal parathyroid morphology,HPO,phenotype,PHENOTYPE_3687
3688,3688,3688,3688,3688,3688,3688,3688,12024,Hypergalactosemia,HPO,phenotype,PHENOTYPE_3688
3689,3689,3689,3689,3689,3689,3689,3689,6000795,Anti-folate receptor antibody positivity,HPO,phenotype,PHENOTYPE_3689
3690,3690,3690,3690,3690,3690,3690,3690,12388,Acute bronchitis,HPO,phenotype,PHENOTYPE_3690
3691,3691,3691,3691,3691,3691,3691,3691,3200,Ragged-red muscle fibers,HPO,phenotype,PHENOTYPE_3691
3692,3692,3692,3692,3692,3692,3692,3692,41184,Fractured middle phalanx of manual digit 4,HPO,phenotype,PHENOTYPE_3692
3693,3693,3693,3693,3693,3693,3693,3693,34719,Lack of oocyte pronucleus formation,HPO,phenotype,PHENOTYPE_3693
3694,3694,3694,3694,3694,3694,3694,3694,100589,Urogenital fistula,HPO,phenotype,PHENOTYPE_3694
3695,3695,3695,3695,3695,3695,3695,3695,10509,Aplasia of the tarsal bones,HPO,phenotype,PHENOTYPE_3695
3696,3696,3696,3696,3696,3696,3696,3696,1842,Foot acroosteolysis,HPO,phenotype,PHENOTYPE_3696
3697,3697,3697,3697,3697,3697,3697,3697,31703,Abnormal ear morphology,HPO,phenotype,PHENOTYPE_3697
3698,3698,3698,3698,3698,3698,3698,3698,34278,Multinucleated erythroblast,HPO,phenotype,PHENOTYPE_3698
3699,3699,3699,3699,3699,3699,3699,3699,383,Abnormal periauricular region morphology,HPO,phenotype,PHENOTYPE_3699
3700,3700,3700,3700,3700,3700,3700,3700,7613,Spinous keratoses of palms and soles,HPO,phenotype,PHENOTYPE_3700
3701,3701,3701,3701,3701,3701,3701,3701,8399,Circumungual hyperkeratosis,HPO,phenotype,PHENOTYPE_3701
3702,3702,3702,3702,3702,3702,3702,3702,11548,Absent right sided atrioventricular connection,HPO,phenotype,PHENOTYPE_3702
3703,3703,3703,3703,3703,3703,3703,3703,40227,Decreased level of histidine-rich glycoprotein,HPO,phenotype,PHENOTYPE_3703
3704,3704,3704,3704,3704,3704,3704,3704,31837,Decreased circulating superoxide dismutase concentration,HPO,phenotype,PHENOTYPE_3704
3705,3705,3705,3705,3705,3705,3705,3705,8451,Posterior vertebral hypoplasia,HPO,phenotype,PHENOTYPE_3705
3706,3706,3706,3706,3706,3706,3706,3706,9116,Aplasia/Hypoplasia involving bones of the skull,HPO,phenotype,PHENOTYPE_3706
3707,3707,3707,3707,3707,3707,3707,3707,20122,Bite cells,HPO,phenotype,PHENOTYPE_3707
3708,3708,3708,3708,3708,3708,3708,3708,1581,Recurrent skin infections,HPO,phenotype,PHENOTYPE_3708
3709,3709,3709,3709,3709,3709,3709,3709,20193,Prolonged reptilase time,HPO,phenotype,PHENOTYPE_3709
3710,3710,3710,3710,3710,3710,3710,3710,6000374,Increased circulating interleukin 1beta concentration,HPO,phenotype,PHENOTYPE_3710
3711,3711,3711,3711,3711,3711,3711,3711,11793,Neoplasm by anatomical site,HPO,phenotype,PHENOTYPE_3711
3712,3712,3712,3712,3712,3712,3712,3712,3049,Ulnar deviation of the wrist,HPO,phenotype,PHENOTYPE_3712
3713,3713,3713,3713,3713,3713,3713,3713,31753,Medial rectus muscle weakness,HPO,phenotype,PHENOTYPE_3713
3714,3714,3714,3714,3714,3714,3714,3714,9932,Single naris,HPO,phenotype,PHENOTYPE_3714
3715,3715,3715,3715,3715,3715,3715,3715,34875,Decreased urinary norepinephrine level,HPO,phenotype,PHENOTYPE_3715
3716,3716,3716,3716,3716,3716,3716,3716,6000434,Elevated urinary isovaleric acid level,HPO,phenotype,PHENOTYPE_3716
3717,3717,3717,3717,3717,3717,3717,3717,6000841,Abnormal scleral thickness,HPO,phenotype,PHENOTYPE_3717
3718,3718,3718,3718,3718,3718,3718,3718,100642,Neoplasm of the adrenal medulla,HPO,phenotype,PHENOTYPE_3718
3719,3719,3719,3719,3719,3719,3719,3719,2555,Absent pubic hair,HPO,phenotype,PHENOTYPE_3719
3720,3720,3720,3720,3720,3720,3720,3720,34533,Triggered by monoamine oxidase inhibitor,HPO,phenotype,PHENOTYPE_3720
3721,3721,3721,3721,3721,3721,3721,3721,30017,Vaginismus,HPO,phenotype,PHENOTYPE_3721
3722,3722,3722,3722,3722,3722,3722,3722,183,Tongue muscle weakness,HPO,phenotype,PHENOTYPE_3722
3723,3723,3723,3723,3723,3723,3723,3723,12647,Abnormal inflammatory response,HPO,phenotype,PHENOTYPE_3723
3724,3724,3724,3724,3724,3724,3724,3724,2092,Pulmonary arterial hypertension,HPO,phenotype,PHENOTYPE_3724
3725,3725,3725,3725,3725,3725,3725,3725,7001,Loss of Purkinje cells in the cerebellar vermis,HPO,phenotype,PHENOTYPE_3725
3726,3726,3726,3726,3726,3726,3726,3726,30589,Abnormal confrontational visual field test,HPO,phenotype,PHENOTYPE_3726
3727,3727,3727,3727,3727,3727,3727,3727,6000127,Elevated urinary creatine/creatinine ratio,HPO,phenotype,PHENOTYPE_3727
3728,3728,3728,3728,3728,3728,3728,3728,11884,Abnormal umbilical stump bleeding,HPO,phenotype,PHENOTYPE_3728
3729,3729,3729,3729,3729,3729,3729,3729,1014,Angiokeratoma,HPO,phenotype,PHENOTYPE_3729
3730,3730,3730,3730,3730,3730,3730,3730,34458,Elevated urinary phenylpyruvic acid level,HPO,phenotype,PHENOTYPE_3730
3731,3731,3731,3731,3731,3731,3731,3731,34429,Bacteria in cerebrospinal fluid,HPO,phenotype,PHENOTYPE_3731
3732,3732,3732,3732,3732,3732,3732,3732,10689,Mirror image polydactyly,HPO,phenotype,PHENOTYPE_3732
3733,3733,3733,3733,3733,3733,3733,3733,25019,Arterial rupture,HPO,phenotype,PHENOTYPE_3733
3734,3734,3734,3734,3734,3734,3734,3734,100039,Thickened cortex of bones,HPO,phenotype,PHENOTYPE_3734
3735,3735,3735,3735,3735,3735,3735,3735,4960,Absent pulmonary artery,HPO,phenotype,PHENOTYPE_3735
3736,3736,3736,3736,3736,3736,3736,3736,100137,Cone-shaped epiphysis of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_3736
3737,3737,3737,3737,3737,3737,3737,3737,34905,Elevated circulating uroporphyrin concentration,HPO,phenotype,PHENOTYPE_3737
3738,3738,3738,3738,3738,3738,3738,3738,34837,Absent dermal elastic fibers,HPO,phenotype,PHENOTYPE_3738
3739,3739,3739,3739,3739,3739,3739,3739,40250,Reduced prothrombin antigen,HPO,phenotype,PHENOTYPE_3739
3740,3740,3740,3740,3740,3740,3740,3740,500224,Decreased CSF phenylalanine concentration,HPO,phenotype,PHENOTYPE_3740
3741,3741,3741,3741,3741,3741,3741,3741,2487,Hyperkinetic movements,HPO,phenotype,PHENOTYPE_3741
3742,3742,3742,3742,3742,3742,3742,3742,100525,Urachus fistula,HPO,phenotype,PHENOTYPE_3742
3743,3743,3743,3743,3743,3743,3743,3743,1477,Compensatory chin elevation,HPO,phenotype,PHENOTYPE_3743
3744,3744,3744,3744,3744,3744,3744,3744,3796,Irregular iliac crest,HPO,phenotype,PHENOTYPE_3744
3745,3745,3745,3745,3745,3745,3745,3745,11787,Central hypothyroidism,HPO,phenotype,PHENOTYPE_3745
3746,3746,3746,3746,3746,3746,3746,3746,11856,Pica,HPO,phenotype,PHENOTYPE_3746
3747,3747,3747,3747,3747,3747,3747,3747,9209,Ivory epiphysis of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_3747
3748,3748,3748,3748,3748,3748,3748,3748,8081,Pes valgus,HPO,phenotype,PHENOTYPE_3748
3749,3749,3749,3749,3749,3749,3749,3749,11824,Chin with H-shaped crease,HPO,phenotype,PHENOTYPE_3749
3750,3750,3750,3750,3750,3750,3750,3750,10295,Aplasia/Hypoplasia of the tongue,HPO,phenotype,PHENOTYPE_3750
3751,3751,3751,3751,3751,3751,3751,3751,3535,3-Methylglutaconic aciduria,HPO,phenotype,PHENOTYPE_3751
3752,3752,3752,3752,3752,3752,3752,3752,5115,Supraventricular arrhythmia,HPO,phenotype,PHENOTYPE_3752
3753,3753,3753,3753,3753,3753,3753,3753,32150,Paroxysmal rectal pain,HPO,phenotype,PHENOTYPE_3753
3754,3754,3754,3754,3754,3754,3754,3754,3000038,Abnormal cricoid cartilage morphology,HPO,phenotype,PHENOTYPE_3754
3755,3755,3755,3755,3755,3755,3755,3755,31614,Inferior retinal coloboma,HPO,phenotype,PHENOTYPE_3755
3756,3756,3756,3756,3756,3756,3756,3756,1195,Single umbilical artery,HPO,phenotype,PHENOTYPE_3756
3757,3757,3757,3757,3757,3757,3757,3757,6265,Aplasia/Hypoplasia of fingers,HPO,phenotype,PHENOTYPE_3757
3758,3758,3758,3758,3758,3758,3758,3758,9623,Proximal placement of thumb,HPO,phenotype,PHENOTYPE_3758
3759,3759,3759,3759,3759,3759,3759,3759,33144,Abnormal circulating ceruloplasmin concentration,HPO,phenotype,PHENOTYPE_3759
3760,3760,3760,3760,3760,3760,3760,3760,30562,Best corrected visual acuity 0.9 LogMAR,HPO,phenotype,PHENOTYPE_3760
3761,3761,3761,3761,3761,3761,3761,3761,1709,Third degree atrioventricular block,HPO,phenotype,PHENOTYPE_3761
3762,3762,3762,3762,3762,3762,3762,3762,9351,Irregular epiphysis of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_3762
3763,3763,3763,3763,3763,3763,3763,3763,2180,Neurodegeneration,HPO,phenotype,PHENOTYPE_3763
3764,3764,3764,3764,3764,3764,3764,3764,935,Thickened cortex of long bones,HPO,phenotype,PHENOTYPE_3764
3765,3765,3765,3765,3765,3765,3765,3765,34576,Reduced epidermal bullous pemphigoid antigen 1 protein expression,HPO,phenotype,PHENOTYPE_3765
3766,3766,3766,3766,3766,3766,3766,3766,1518,Small for gestational age,HPO,phenotype,PHENOTYPE_3766
3767,3767,3767,3767,3767,3767,3767,3767,12834,Right,HPO,phenotype,PHENOTYPE_3767
3768,3768,3768,3768,3768,3768,3768,3768,33257,Delayed ability to walk with support,HPO,phenotype,PHENOTYPE_3768
3769,3769,3769,3769,3769,3769,3769,3769,6927,Unilateral polymicrogyria,HPO,phenotype,PHENOTYPE_3769
3770,3770,3770,3770,3770,3770,3770,3770,6170,Chess-pawn distal phalanges,HPO,phenotype,PHENOTYPE_3770
3771,3771,3771,3771,3771,3771,3771,3771,6184,Decreased palmar creases,HPO,phenotype,PHENOTYPE_3771
3772,3772,3772,3772,3772,3772,3772,3772,9248,Abnormality of the epiphysis of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_3772
3773,3773,3773,3773,3773,3773,3773,3773,32645,Renal interstitial mononuclear cell infiltration,HPO,phenotype,PHENOTYPE_3773
3774,3774,3774,3774,3774,3774,3774,3774,10043,Aplasia of the 4th metacarpal,HPO,phenotype,PHENOTYPE_3774
3775,3775,3775,3775,3775,3775,3775,3775,30043,Hip subluxation,HPO,phenotype,PHENOTYPE_3775
3776,3776,3776,3776,3776,3776,3776,3776,32334,Oligoclonal elevation of circulating IgA,HPO,phenotype,PHENOTYPE_3776
3777,3777,3777,3777,3777,3777,3777,3777,32650,Elevated CSF glial fibrillary acidic protein concentration,HPO,phenotype,PHENOTYPE_3777
3778,3778,3778,3778,3778,3778,3778,3778,4000111,Asbestos exposure,HPO,phenotype,PHENOTYPE_3778
3779,3779,3779,3779,3779,3779,3779,3779,9521,Small epiphysis of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_3779
3780,3780,3780,3780,3780,3780,3780,3780,12890,Posteriorly placed anus,HPO,phenotype,PHENOTYPE_3780
3781,3781,3781,3781,3781,3781,3781,3781,30067,Peripheral primitive neuroectodermal neoplasm,HPO,phenotype,PHENOTYPE_3781
3782,3782,3782,3782,3782,3782,3782,3782,741,Apathy,HPO,phenotype,PHENOTYPE_3782
3783,3783,3783,3783,3783,3783,3783,3783,6000756,Elevated urinary 5-hydroxyindoleacetic acid level,HPO,phenotype,PHENOTYPE_3783
3784,3784,3784,3784,3784,3784,3784,3784,3003,Colon cancer,HPO,phenotype,PHENOTYPE_3784
3785,3785,3785,3785,3785,3785,3785,3785,6000820,Elevated osmolality gap,HPO,phenotype,PHENOTYPE_3785
3786,3786,3786,3786,3786,3786,3786,3786,1611,Hypernasal speech,HPO,phenotype,PHENOTYPE_3786
3787,3787,3787,3787,3787,3787,3787,3787,5000042,Anti-Sj/ITPR1 antibody,HPO,phenotype,PHENOTYPE_3787
3788,3788,3788,3788,3788,3788,3788,3788,9417,Pseudoepiphyses of the 3rd finger,HPO,phenotype,PHENOTYPE_3788
3789,3789,3789,3789,3789,3789,3789,3789,30878,Abnormality on pulmonary function testing,HPO,phenotype,PHENOTYPE_3789
3790,3790,3790,3790,3790,3790,3790,3790,12460,Dysmorphic inferior cerebellar vermis,HPO,phenotype,PHENOTYPE_3790
3791,3791,3791,3791,3791,3791,3791,3791,4464,Postauricular pit,HPO,phenotype,PHENOTYPE_3791
3792,3792,3792,3792,3792,3792,3792,3792,10696,Polar cataract,HPO,phenotype,PHENOTYPE_3792
3793,3793,3793,3793,3793,3793,3793,3793,25681,Distal clavicular thinning,HPO,phenotype,PHENOTYPE_3793
3794,3794,3794,3794,3794,3794,3794,3794,12175,Resistance to activated protein C,HPO,phenotype,PHENOTYPE_3794
3795,3795,3795,3795,3795,3795,3795,3795,31926,Homer Wright rosette,HPO,phenotype,PHENOTYPE_3795
3796,3796,3796,3796,3796,3796,3796,3796,410391,"Increased proportion of CD4-positive, alpha-beta memory T cells",HPO,phenotype,PHENOTYPE_3796
3797,3797,3797,3797,3797,3797,3797,3797,32637,Renal interstitial edema,HPO,phenotype,PHENOTYPE_3797
3798,3798,3798,3798,3798,3798,3798,3798,9336,Bracket epiphysis of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_3798
3799,3799,3799,3799,3799,3799,3799,3799,5867,4-5 metacarpal synostosis,HPO,phenotype,PHENOTYPE_3799
3800,3800,3800,3800,3800,3800,3800,3800,40244,Prolonged Russell's viper venom time,HPO,phenotype,PHENOTYPE_3800
3801,3801,3801,3801,3801,3801,3801,3801,10225,Pseudoepiphysis of the 4th metacarpal,HPO,phenotype,PHENOTYPE_3801
3802,3802,3802,3802,3802,3802,3802,3802,20160,GM1-ganglioside accumulation,HPO,phenotype,PHENOTYPE_3802
3803,3803,3803,3803,3803,3803,3803,3803,8331,Elevated creatine kinase after exercise,HPO,phenotype,PHENOTYPE_3803
3804,3804,3804,3804,3804,3804,3804,3804,40203,Abnormal CSF neopterin concentration,HPO,phenotype,PHENOTYPE_3804
3805,3805,3805,3805,3805,3805,3805,3805,10814,Abnormal position of hair whorl,HPO,phenotype,PHENOTYPE_3805
3806,3806,3806,3806,3806,3806,3806,3806,11458,Abdominal symptom,HPO,phenotype,PHENOTYPE_3806
3807,3807,3807,3807,3807,3807,3807,3807,500053,Retinopathy of prematurity stage 4,HPO,phenotype,PHENOTYPE_3807
3808,3808,3808,3808,3808,3808,3808,3808,100007,Neoplasm of the peripheral nervous system,HPO,phenotype,PHENOTYPE_3808
3809,3809,3809,3809,3809,3809,3809,3809,20254,Lymph node with poorly defined germinal center borders,HPO,phenotype,PHENOTYPE_3809
3810,3810,3810,3810,3810,3810,3810,3810,7730,Iris hypopigmentation,HPO,phenotype,PHENOTYPE_3810
3811,3811,3811,3811,3811,3811,3811,3811,10657,Patchy reduction of bone mineral density,HPO,phenotype,PHENOTYPE_3811
3812,3812,3812,3812,3812,3812,3812,3812,30568,Best corrected visual acuity 3.0 LogMAR,HPO,phenotype,PHENOTYPE_3812
3813,3813,3813,3813,3813,3813,3813,3813,10093,Duplication of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_3813
3814,3814,3814,3814,3814,3814,3814,3814,430097,CD38 expression,HPO,phenotype,PHENOTYPE_3814
3815,3815,3815,3815,3815,3815,3815,3815,6000856,Head and neck distribution,HPO,phenotype,PHENOTYPE_3815
3816,3816,3816,3816,3816,3816,3816,3816,622,Blurred vision,HPO,phenotype,PHENOTYPE_3816
3817,3817,3817,3817,3817,3817,3817,3817,6000126,Decreased urinary bile acid level,HPO,phenotype,PHENOTYPE_3817
3818,3818,3818,3818,3818,3818,3818,3818,31952,Neurogenic claudication,HPO,phenotype,PHENOTYPE_3818
3819,3819,3819,3819,3819,3819,3819,3819,9173,Curved middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_3819
3820,3820,3820,3820,3820,3820,3820,3820,34803,Hemolacria,HPO,phenotype,PHENOTYPE_3820
3821,3821,3821,3821,3821,3821,3821,3821,954,Single transverse palmar crease,HPO,phenotype,PHENOTYPE_3821
3822,3822,3822,3822,3822,3822,3822,3822,410005,Cleft hard palate,HPO,phenotype,PHENOTYPE_3822
3823,3823,3823,3823,3823,3823,3823,3823,34889,Positive urine infectious agent nucleic acid test,HPO,phenotype,PHENOTYPE_3823
3824,3824,3824,3824,3824,3824,3824,3824,41074,Chronic (near) absent circulating IgG3,HPO,phenotype,PHENOTYPE_3824
3825,3825,3825,3825,3825,3825,3825,3825,11219,Short face,HPO,phenotype,PHENOTYPE_3825
3826,3826,3826,3826,3826,3826,3826,3826,8668,"Gonadal dysgenesis, male",HPO,phenotype,PHENOTYPE_3826
3827,3827,3827,3827,3827,3827,3827,3827,6000932,Postprandial exacerbation,HPO,phenotype,PHENOTYPE_3827
3828,3828,3828,3828,3828,3828,3828,3828,34321,Elevated circulating guanidinoacetic acid concentration,HPO,phenotype,PHENOTYPE_3828
3829,3829,3829,3829,3829,3829,3829,3829,3575,Increased intracellular sodium,HPO,phenotype,PHENOTYPE_3829
3830,3830,3830,3830,3830,3830,3830,3830,6903,Congenital peripheral neuropathy,HPO,phenotype,PHENOTYPE_3830
3831,3831,3831,3831,3831,3831,3831,3831,4382,Mitral valve calcification,HPO,phenotype,PHENOTYPE_3831
3832,3832,3832,3832,3832,3832,3832,3832,430048,Intracranial calcification,HPO,phenotype,PHENOTYPE_3832
3833,3833,3833,3833,3833,3833,3833,3833,11272,Underdeveloped tragus,HPO,phenotype,PHENOTYPE_3833
3834,3834,3834,3834,3834,3834,3834,3834,100789,Torus palatinus,HPO,phenotype,PHENOTYPE_3834
3835,3835,3835,3835,3835,3835,3835,3835,1045,Vitiligo,HPO,phenotype,PHENOTYPE_3835
3836,3836,3836,3836,3836,3836,3836,3836,5090,Lateral femoral bowing,HPO,phenotype,PHENOTYPE_3836
3837,3837,3837,3837,3837,3837,3837,3837,6000512,"Reduced circulating alpha-1,3-fucosyltransferase activity",HPO,phenotype,PHENOTYPE_3837
3838,3838,3838,3838,3838,3838,3838,3838,34951,Osteochondromyxoma,HPO,phenotype,PHENOTYPE_3838
3839,3839,3839,3839,3839,3839,3839,3839,31942,Congenital absence of portal vein,HPO,phenotype,PHENOTYPE_3839
3840,3840,3840,3840,3840,3840,3840,3840,32578,Third ventricle colloid cyst,HPO,phenotype,PHENOTYPE_3840
3841,3841,3841,3841,3841,3841,3841,3841,11308,Slender toe,HPO,phenotype,PHENOTYPE_3841
3842,3842,3842,3842,3842,3842,3842,3842,410315,Increased urinary 1-methylhistidine,HPO,phenotype,PHENOTYPE_3842
3843,3843,3843,3843,3843,3843,3843,3843,6000217,Reduced circulating acyl-CoA oxidase activity,HPO,phenotype,PHENOTYPE_3843
3844,3844,3844,3844,3844,3844,3844,3844,12553,Hypoplastic thumbnail,HPO,phenotype,PHENOTYPE_3844
3845,3845,3845,3845,3845,3845,3845,3845,33712,Repeated implantation failure,HPO,phenotype,PHENOTYPE_3845
3846,3846,3846,3846,3846,3846,3846,3846,9303,Osteolytic defects of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_3846
3847,3847,3847,3847,3847,3847,3847,3847,12773,Reduced upper to lower segment ratio,HPO,phenotype,PHENOTYPE_3847
3848,3848,3848,3848,3848,3848,3848,3848,32438,Platelet anisocytosis,HPO,phenotype,PHENOTYPE_3848
3849,3849,3849,3849,3849,3849,3849,3849,5000004,Anti-CARP VIII antibody,HPO,phenotype,PHENOTYPE_3849
3850,3850,3850,3850,3850,3850,3850,3850,11102,Ileal atresia,HPO,phenotype,PHENOTYPE_3850
3851,3851,3851,3851,3851,3851,3851,3851,10381,Abnormality of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_3851
3852,3852,3852,3852,3852,3852,3852,3852,34518,Gingival fragility,HPO,phenotype,PHENOTYPE_3852
3853,3853,3853,3853,3853,3853,3853,3853,32951,Renal tubular viral cytopathic changes,HPO,phenotype,PHENOTYPE_3853
3854,3854,3854,3854,3854,3854,3854,3854,32372,Increased peripheral blast count,HPO,phenotype,PHENOTYPE_3854
3855,3855,3855,3855,3855,3855,3855,3855,10416,Curved distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_3855
3856,3856,3856,3856,3856,3856,3856,3856,4000159,Typified by moderate penetrance,HPO,phenotype,PHENOTYPE_3856
3857,3857,3857,3857,3857,3857,3857,3857,11633,Complete left sided absence of pericardium,HPO,phenotype,PHENOTYPE_3857
3858,3858,3858,3858,3858,3858,3858,3858,100507,Reduced blood folate concentration,HPO,phenotype,PHENOTYPE_3858
3859,3859,3859,3859,3859,3859,3859,3859,10785,Gonadal neoplasm,HPO,phenotype,PHENOTYPE_3859
3860,3860,3860,3860,3860,3860,3860,3860,25775,Tangential speech,HPO,phenotype,PHENOTYPE_3860
3861,3861,3861,3861,3861,3861,3861,3861,6000288,Deep neck abscess,HPO,phenotype,PHENOTYPE_3861
3862,3862,3862,3862,3862,3862,3862,3862,200146,Mucoid extracellular matrix accumulation,HPO,phenotype,PHENOTYPE_3862
3863,3863,3863,3863,3863,3863,3863,3863,33108,Abnormal circulating proteinogenic amino acid derivative concentration,HPO,phenotype,PHENOTYPE_3863
3864,3864,3864,3864,3864,3864,3864,3864,4617,Butterfly vertebral arch,HPO,phenotype,PHENOTYPE_3864
3865,3865,3865,3865,3865,3865,3865,3865,33426,Pulmonary air embolism,HPO,phenotype,PHENOTYPE_3865
3866,3866,3866,3866,3866,3866,3866,3866,11159,Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena,HPO,phenotype,PHENOTYPE_3866
3867,3867,3867,3867,3867,3867,3867,3867,12779,Transient hearing impairment,HPO,phenotype,PHENOTYPE_3867
3868,3868,3868,3868,3868,3868,3868,3868,32599,Abnormal renal tubular epithelial morphology,HPO,phenotype,PHENOTYPE_3868
3869,3869,3869,3869,3869,3869,3869,3869,9851,Aplasia/Hypoplasia of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_3869
3870,3870,3870,3870,3870,3870,3870,3870,31706,Compensatory chin depression,HPO,phenotype,PHENOTYPE_3870
3871,3871,3871,3871,3871,3871,3871,3871,2179,Opisthotonus,HPO,phenotype,PHENOTYPE_3871
3872,3872,3872,3872,3872,3872,3872,3872,4962,Thoracic aorta calcification,HPO,phenotype,PHENOTYPE_3872
3873,3873,3873,3873,3873,3873,3873,3873,6579,Prolonged neonatal jaundice,HPO,phenotype,PHENOTYPE_3873
3874,3874,3874,3874,3874,3874,3874,3874,9011,Hypoplasia of serratus anterior muscle,HPO,phenotype,PHENOTYPE_3874
3875,3875,3875,3875,3875,3875,3875,3875,196,Lower lip pit,HPO,phenotype,PHENOTYPE_3875
3876,3876,3876,3876,3876,3876,3876,3876,31920,Malignant ovarian granulosa cell tumor,HPO,phenotype,PHENOTYPE_3876
3877,3877,3877,3877,3877,3877,3877,3877,5200135,Delay in the acquisition of cooperative play skills,HPO,phenotype,PHENOTYPE_3877
3878,3878,3878,3878,3878,3878,3878,3878,30691,Divergence nystagmus,HPO,phenotype,PHENOTYPE_3878
3879,3879,3879,3879,3879,3879,3879,3879,7621,Telangiectasia of extensor surfaces,HPO,phenotype,PHENOTYPE_3879
3880,3880,3880,3880,3880,3880,3880,3880,5200241,Recurrent maladaptive behavior,HPO,phenotype,PHENOTYPE_3880
3881,3881,3881,3881,3881,3881,3881,3881,430128,Frontal cortical localization,HPO,phenotype,PHENOTYPE_3881
3882,3882,3882,3882,3882,3882,3882,3882,1982,Sea-blue histiocytosis,HPO,phenotype,PHENOTYPE_3882
3883,3883,3883,3883,3883,3883,3883,3883,30624,Subretinal hyporeflective spaces on macular OCT,HPO,phenotype,PHENOTYPE_3883
3884,3884,3884,3884,3884,3884,3884,3884,9847,Osteolytic defects of the middle phalanges of the hand,HPO,phenotype,PHENOTYPE_3884
3885,3885,3885,3885,3885,3885,3885,3885,7986,Increased retinal vascularity,HPO,phenotype,PHENOTYPE_3885
3886,3886,3886,3886,3886,3886,3886,3886,32479,Preimplantation lethality,HPO,phenotype,PHENOTYPE_3886
3887,3887,3887,3887,3887,3887,3887,3887,5201007,Incomplete cleft maxillary alveolar ridge,HPO,phenotype,PHENOTYPE_3887
3888,3888,3888,3888,3888,3888,3888,3888,500231,Abnormal CSF pyruvate family amino acid concentration,HPO,phenotype,PHENOTYPE_3888
3889,3889,3889,3889,3889,3889,3889,3889,32441,Blood group AB,HPO,phenotype,PHENOTYPE_3889
3890,3890,3890,3890,3890,3890,3890,3890,11052,Agenesis of maxillary premolar,HPO,phenotype,PHENOTYPE_3890
3891,3891,3891,3891,3891,3891,3891,3891,31064,Impaired continence,HPO,phenotype,PHENOTYPE_3891
3892,3892,3892,3892,3892,3892,3892,3892,5200029,Social disinhibition,HPO,phenotype,PHENOTYPE_3892
3893,3893,3893,3893,3893,3893,3893,3893,6000674,Decreased CSF N-acetylaspartic acid concentration,HPO,phenotype,PHENOTYPE_3893
3894,3894,3894,3894,3894,3894,3894,3894,4257,Delayed ossification of the trapezoid bone,HPO,phenotype,PHENOTYPE_3894
3895,3895,3895,3895,3895,3895,3895,3895,34555,Reduced sulfide:quinone oxidoreductase activity,HPO,phenotype,PHENOTYPE_3895
3896,3896,3896,3896,3896,3896,3896,3896,100821,Urethrocele,HPO,phenotype,PHENOTYPE_3896
3897,3897,3897,3897,3897,3897,3897,3897,10152,Enlarged epiphysis of the 1st metatarsal,HPO,phenotype,PHENOTYPE_3897
3898,3898,3898,3898,3898,3898,3898,3898,3902,Epiphyseal stippling of the humerus,HPO,phenotype,PHENOTYPE_3898
3899,3899,3899,3899,3899,3899,3899,3899,11670,Left superior vena cava draining to coronary sinus,HPO,phenotype,PHENOTYPE_3899
3900,3900,3900,3900,3900,3900,3900,3900,100707,Abnormal astrocyte morphology,HPO,phenotype,PHENOTYPE_3900
3901,3901,3901,3901,3901,3901,3901,3901,10139,Bracket epiphysis of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_3901
3902,3902,3902,3902,3902,3902,3902,3902,3495,GM2-ganglioside accumulation,HPO,phenotype,PHENOTYPE_3902
3903,3903,3903,3903,3903,3903,3903,3903,100708,Abnormal microglia morphology,HPO,phenotype,PHENOTYPE_3903
3904,3904,3904,3904,3904,3904,3904,3904,1264,Spastic diplegia,HPO,phenotype,PHENOTYPE_3904
3905,3905,3905,3905,3905,3905,3905,3905,4879,Intermittent hyperventilation,HPO,phenotype,PHENOTYPE_3905
3906,3906,3906,3906,3906,3906,3906,3906,31964,Elevated circulating alanine aminotransferase concentration,HPO,phenotype,PHENOTYPE_3906
3907,3907,3907,3907,3907,3907,3907,3907,9523,Triangular epiphysis of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_3907
3908,3908,3908,3908,3908,3908,3908,3908,9340,Irregular epiphysis of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_3908
3909,3909,3909,3909,3909,3909,3909,3909,7831,Nonprogressive restrictive external ophthalmoplegia,HPO,phenotype,PHENOTYPE_3909
3910,3910,3910,3910,3910,3910,3910,3910,20203,Z-band streaming,HPO,phenotype,PHENOTYPE_3910
3911,3911,3911,3911,3911,3911,3911,3911,5200064,Olfactory sensory seeking,HPO,phenotype,PHENOTYPE_3911
3912,3912,3912,3912,3912,3912,3912,3912,31037,Reduced insulin-like factor 3 level,HPO,phenotype,PHENOTYPE_3912
3913,3913,3913,3913,3913,3913,3913,3913,31644,Fusiform abdominal aortic aneurysm,HPO,phenotype,PHENOTYPE_3913
3914,3914,3914,3914,3914,3914,3914,3914,4000147,Abnormal hepatic artery morphology,HPO,phenotype,PHENOTYPE_3914
3915,3915,3915,3915,3915,3915,3915,3915,3896,Irregular humeral epiphyses,HPO,phenotype,PHENOTYPE_3915
3916,3916,3916,3916,3916,3916,3916,3916,34848,Fetal tetracycline exposure,HPO,phenotype,PHENOTYPE_3916
3917,3917,3917,3917,3917,3917,3917,3917,9889,Localized hirsutism,HPO,phenotype,PHENOTYPE_3917
3918,3918,3918,3918,3918,3918,3918,3918,7792,Microsaccadic pursuit,HPO,phenotype,PHENOTYPE_3918
3919,3919,3919,3919,3919,3919,3919,3919,25668,Abnormal neck morphology,HPO,phenotype,PHENOTYPE_3919
3920,3920,3920,3920,3920,3920,3920,3920,12662,Parietal hypometabolism in FDG PET,HPO,phenotype,PHENOTYPE_3920
3921,3921,3921,3921,3921,3921,3921,3921,3267,Reduced orotidine 5-prime phosphate decarboxylase level,HPO,phenotype,PHENOTYPE_3921
3922,3922,3922,3922,3922,3922,3922,3922,12754,CNS hypermyelination,HPO,phenotype,PHENOTYPE_3922
3923,3923,3923,3923,3923,3923,3923,3923,5200265,Pressured speech,HPO,phenotype,PHENOTYPE_3923
3924,3924,3924,3924,3924,3924,3924,3924,4947,Arteriovenous fistula,HPO,phenotype,PHENOTYPE_3924
3925,3925,3925,3925,3925,3925,3925,3925,10206,Curved proximal toe phalanx,HPO,phenotype,PHENOTYPE_3925
3926,3926,3926,3926,3926,3926,3926,3926,25505,Anomalous origin of the circumflex artery from the right sinus of Valsalva,HPO,phenotype,PHENOTYPE_3926
3927,3927,3927,3927,3927,3927,3927,3927,9724,Subungual fibromas,HPO,phenotype,PHENOTYPE_3927
3928,3928,3928,3928,3928,3928,3928,3928,35024,Elevated circulating methylmalonylcarnitine concentration,HPO,phenotype,PHENOTYPE_3928
3929,3929,3929,3929,3929,3929,3929,3929,100122,Absent epiphysis of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_3929
3930,3930,3930,3930,3930,3930,3930,3930,5200111,Avoidance of emotional intimacy,HPO,phenotype,PHENOTYPE_3930
3931,3931,3931,3931,3931,3931,3931,3931,40117,Atresia of the Eustachian tube,HPO,phenotype,PHENOTYPE_3931
3932,3932,3932,3932,3932,3932,3932,3932,500248,Increased CSF alpha-aminobutyrate concentration,HPO,phenotype,PHENOTYPE_3932
3933,3933,3933,3933,3933,3933,3933,3933,4000168,Shark teeth,HPO,phenotype,PHENOTYPE_3933
3934,3934,3934,3934,3934,3934,3934,3934,11117,Abnormal circulating interleukin concentration,HPO,phenotype,PHENOTYPE_3934
3935,3935,3935,3935,3935,3935,3935,3935,25092,Epidermal acanthosis,HPO,phenotype,PHENOTYPE_3935
3936,3936,3936,3936,3936,3936,3936,3936,8444,Posterior wedging of vertebral bodies,HPO,phenotype,PHENOTYPE_3936
3937,3937,3937,3937,3937,3937,3937,3937,1223,Pointed proximal second through fifth metacarpals,HPO,phenotype,PHENOTYPE_3937
3938,3938,3938,3938,3938,3938,3938,3938,4696,Talipes cavus equinovarus,HPO,phenotype,PHENOTYPE_3938
3939,3939,3939,3939,3939,3939,3939,3939,9949,Duplication of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_3939
3940,3940,3940,3940,3940,3940,3940,3940,12252,Abnormal respiratory system morphology,HPO,phenotype,PHENOTYPE_3940
3941,3941,3941,3941,3941,3941,3941,3941,866,Euthyroid multinodular goiter,HPO,phenotype,PHENOTYPE_3941
3942,3942,3942,3942,3942,3942,3942,3942,6733,Acute megakaryocytic leukemia,HPO,phenotype,PHENOTYPE_3942
3943,3943,3943,3943,3943,3943,3943,3943,6691,Pulmonic valve myxoma,HPO,phenotype,PHENOTYPE_3943
3944,3944,3944,3944,3944,3944,3944,3944,34814,Conjunctival membrane,HPO,phenotype,PHENOTYPE_3944
3945,3945,3945,3945,3945,3945,3945,3945,40186,Maculopapular exanthema,HPO,phenotype,PHENOTYPE_3945
3946,3946,3946,3946,3946,3946,3946,3946,3731,Quadriceps muscle weakness,HPO,phenotype,PHENOTYPE_3946
3947,3947,3947,3947,3947,3947,3947,3947,11812,Agraphesthesia,HPO,phenotype,PHENOTYPE_3947
3948,3948,3948,3948,3948,3948,3948,3948,25166,Thickened elastic fibers in the dermis,HPO,phenotype,PHENOTYPE_3948
3949,3949,3949,3949,3949,3949,3949,3949,9334,Abnormality of the epiphysis of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_3949
3950,3950,3950,3950,3950,3950,3950,3950,6946,Recurrent meningitis,HPO,phenotype,PHENOTYPE_3950
3951,3951,3951,3951,3951,3951,3951,3951,100955,Giant cell granuloma of mandible,HPO,phenotype,PHENOTYPE_3951
3952,3952,3952,3952,3952,3952,3952,3952,6000341,Snowflake effect in amniotic cavity,HPO,phenotype,PHENOTYPE_3952
3953,3953,3953,3953,3953,3953,3953,3953,25515,Delayed thelarche,HPO,phenotype,PHENOTYPE_3953
3954,3954,3954,3954,3954,3954,3954,3954,1845,Overlapping toe,HPO,phenotype,PHENOTYPE_3954
3955,3955,3955,3955,3955,3955,3955,3955,31633,Isolation of the left subclavian artery,HPO,phenotype,PHENOTYPE_3955
3956,3956,3956,3956,3956,3956,3956,3956,40140,Degeneration of the striatum,HPO,phenotype,PHENOTYPE_3956
3957,3957,3957,3957,3957,3957,3957,3957,11819,Submucous cleft soft palate,HPO,phenotype,PHENOTYPE_3957
3958,3958,3958,3958,3958,3958,3958,3958,5174,Membranous subvalvular aortic stenosis,HPO,phenotype,PHENOTYPE_3958
3959,3959,3959,3959,3959,3959,3959,3959,410370,Absence of ganglioside GM3,HPO,phenotype,PHENOTYPE_3959
3960,3960,3960,3960,3960,3960,3960,3960,6778,Benign genitourinary tract neoplasm,HPO,phenotype,PHENOTYPE_3960
3961,3961,3961,3961,3961,3961,3961,3961,410327,Dairy allergy,HPO,phenotype,PHENOTYPE_3961
3962,3962,3962,3962,3962,3962,3962,3962,31857,Ineffective esophageal peristalsis,HPO,phenotype,PHENOTYPE_3962
3963,3963,3963,3963,3963,3963,3963,3963,6000603,Elevated urinary 2-methyl-3-hydroxybutyric acid level,HPO,phenotype,PHENOTYPE_3963
3964,3964,3964,3964,3964,3964,3964,3964,4058,Hand monodactyly,HPO,phenotype,PHENOTYPE_3964
3965,3965,3965,3965,3965,3965,3965,3965,5069,Rhizo-meso-acromelic limb shortening,HPO,phenotype,PHENOTYPE_3965
3966,3966,3966,3966,3966,3966,3966,3966,11450,Unusual CNS infection,HPO,phenotype,PHENOTYPE_3966
3967,3967,3967,3967,3967,3967,3967,3967,8528,Long hairs growing from helix of pinna,HPO,phenotype,PHENOTYPE_3967
3968,3968,3968,3968,3968,3968,3968,3968,32304,Abnormal circulating mannose-binding protein concentration,HPO,phenotype,PHENOTYPE_3968
3969,3969,3969,3969,3969,3969,3969,3969,9154,Triangular epiphysis of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_3969
3970,3970,3970,3970,3970,3970,3970,3970,32287,Ultra-low vision with no light perception,HPO,phenotype,PHENOTYPE_3970
3971,3971,3971,3971,3971,3971,3971,3971,100937,Sclerosis of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_3971
3972,3972,3972,3972,3972,3972,3972,3972,33089,Branched-chain aminoaciduria,HPO,phenotype,PHENOTYPE_3972
3973,3973,3973,3973,3973,3973,3973,3973,5200057,Limited pointing,HPO,phenotype,PHENOTYPE_3973
3974,3974,3974,3974,3974,3974,3974,3974,31704,Abnormal ear physiology,HPO,phenotype,PHENOTYPE_3974
3975,3975,3975,3975,3975,3975,3975,3975,5200118,Difficulty recognizing another's emotions,HPO,phenotype,PHENOTYPE_3975
3976,3976,3976,3976,3976,3976,3976,3976,11494,Generalized opacification of the cornea,HPO,phenotype,PHENOTYPE_3976
3977,3977,3977,3977,3977,3977,3977,3977,9548,Bullet-shaped phalanges of the 2nd finger,HPO,phenotype,PHENOTYPE_3977
3978,3978,3978,3978,3978,3978,3978,3978,6824,Cranial nerve paralysis,HPO,phenotype,PHENOTYPE_3978
3979,3979,3979,3979,3979,3979,3979,3979,11531,Vitritis,HPO,phenotype,PHENOTYPE_3979
3980,3980,3980,3980,3980,3980,3980,3980,2717,Adrenal overactivity,HPO,phenotype,PHENOTYPE_3980
3981,3981,3981,3981,3981,3981,3981,3981,3196,Short nose,HPO,phenotype,PHENOTYPE_3981
3982,3982,3982,3982,3982,3982,3982,3982,9128,Aplasia/Hypoplasia involving the musculature of the extremities,HPO,phenotype,PHENOTYPE_3982
3983,3983,3983,3983,3983,3983,3983,3983,11565,Common atrium,HPO,phenotype,PHENOTYPE_3983
3984,3984,3984,3984,3984,3984,3984,3984,31002,Neuritis,HPO,phenotype,PHENOTYPE_3984
3985,3985,3985,3985,3985,3985,3985,3985,8,Abnormal morphology of female internal genitalia,HPO,phenotype,PHENOTYPE_3985
3986,3986,3986,3986,3986,3986,3986,3986,40108,Abnormal anterior semicircular canal morphology,HPO,phenotype,PHENOTYPE_3986
3987,3987,3987,3987,3987,3987,3987,3987,33883,Abnormal cortical radial artery morphology,HPO,phenotype,PHENOTYPE_3987
3988,3988,3988,3988,3988,3988,3988,3988,32358,Decreased post-bronchodilator forced expiratory volume in one second,HPO,phenotype,PHENOTYPE_3988
3989,3989,3989,3989,3989,3989,3989,3989,3701,Proximal muscle weakness,HPO,phenotype,PHENOTYPE_3989
3990,3990,3990,3990,3990,3990,3990,3990,358,Posteriorly rotated ears,HPO,phenotype,PHENOTYPE_3990
3991,3991,3991,3991,3991,3991,3991,3991,34197,Third trimester onset,HPO,phenotype,PHENOTYPE_3991
3992,3992,3992,3992,3992,3992,3992,3992,6006,Hypotrophy of the small hand muscles,HPO,phenotype,PHENOTYPE_3992
3993,3993,3993,3993,3993,3993,3993,3993,2321,Vertigo,HPO,phenotype,PHENOTYPE_3993
3994,3994,3994,3994,3994,3994,3994,3994,32,Abnormal male external genitalia morphology,HPO,phenotype,PHENOTYPE_3994
3995,3995,3995,3995,3995,3995,3995,3995,10436,Aplasia of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_3995
3996,3996,3996,3996,3996,3996,3996,3996,25130,Decreased small intestinal mucosa lactase level,HPO,phenotype,PHENOTYPE_3996
3997,3997,3997,3997,3997,3997,3997,3997,1382,Joint hypermobility,HPO,phenotype,PHENOTYPE_3997
3998,3998,3998,3998,3998,3998,3998,3998,11724,Uhl's anomaly,HPO,phenotype,PHENOTYPE_3998
3999,3999,3999,3999,3999,3999,3999,3999,32471,Focal polymicrogyria,HPO,phenotype,PHENOTYPE_3999
4000,4000,4000,4000,4000,4000,4000,4000,690,Agenesis of maxillary lateral incisor,HPO,phenotype,PHENOTYPE_4000
4001,4001,4001,4001,4001,4001,4001,4001,30200,Fatiguable weakness of proximal limb muscles,HPO,phenotype,PHENOTYPE_4001
4002,4002,4002,4002,4002,4002,4002,4002,34351,Neuromyotonia,HPO,phenotype,PHENOTYPE_4002
4003,4003,4003,4003,4003,4003,4003,4003,2094,Dyspnea,HPO,phenotype,PHENOTYPE_4003
4004,4004,4004,4004,4004,4004,4004,4004,4352,Abnormal circulating purine concentration,HPO,phenotype,PHENOTYPE_4004
4005,4005,4005,4005,4005,4005,4005,4005,11644,Coronary sinus diverticulum,HPO,phenotype,PHENOTYPE_4005
4006,4006,4006,4006,4006,4006,4006,4006,4481,Progressive macrocephaly,HPO,phenotype,PHENOTYPE_4006
4007,4007,4007,4007,4007,4007,4007,4007,32320,Affected,HPO,phenotype,PHENOTYPE_4007
4008,4008,4008,4008,4008,4008,4008,4008,11021,Abnormal circulating enzyme concentration,HPO,phenotype,PHENOTYPE_4008
4009,4009,4009,4009,4009,4009,4009,4009,33237,Visceral epithelial cell detachment,HPO,phenotype,PHENOTYPE_4009
4010,4010,4010,4010,4010,4010,4010,4010,12669,Carotid sinus syncope,HPO,phenotype,PHENOTYPE_4010
4011,4011,4011,4011,4011,4011,4011,4011,4000021,Anti-laminin 332 antibody positivity,HPO,phenotype,PHENOTYPE_4011
4012,4012,4012,4012,4012,4012,4012,4012,12871,Varicocele,HPO,phenotype,PHENOTYPE_4012
4013,4013,4013,4013,4013,4013,4013,4013,32235,Anti-La/SS-B antibody positivity,HPO,phenotype,PHENOTYPE_4013
4014,4014,4014,4014,4014,4014,4014,4014,410305,Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine,HPO,phenotype,PHENOTYPE_4014
4015,4015,4015,4015,4015,4015,4015,4015,25416,Vaginal stricture,HPO,phenotype,PHENOTYPE_4015
4016,4016,4016,4016,4016,4016,4016,4016,430125,Elevated circulating plasminogen activator inhibitor 1 activity,HPO,phenotype,PHENOTYPE_4016
4017,4017,4017,4017,4017,4017,4017,4017,9995,Partial duplication of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_4017
4018,4018,4018,4018,4018,4018,4018,4018,1459,1-3 toe syndactyly,HPO,phenotype,PHENOTYPE_4018
4019,4019,4019,4019,4019,4019,4019,4019,3676,Progressive,HPO,phenotype,PHENOTYPE_4019
4020,4020,4020,4020,4020,4020,4020,4020,34546,"Presence of uterus in 46,XY individual",HPO,phenotype,PHENOTYPE_4020
4021,4021,4021,4021,4021,4021,4021,4021,25235,NREM parasomnia,HPO,phenotype,PHENOTYPE_4021
4022,4022,4022,4022,4022,4022,4022,4022,4491,Large posterior fontanelle,HPO,phenotype,PHENOTYPE_4022
4023,4023,4023,4023,4023,4023,4023,4023,2361,Psychomotor deterioration,HPO,phenotype,PHENOTYPE_4023
4024,4024,4024,4024,4024,4024,4024,4024,33441,Elevated circulating hexanoylcarnitine concentration,HPO,phenotype,PHENOTYPE_4024
4025,4025,4025,4025,4025,4025,4025,4025,12467,Acute respiratory acidosis,HPO,phenotype,PHENOTYPE_4025
4026,4026,4026,4026,4026,4026,4026,4026,34313,Hyperdynamic left ventricular ejection fraction,HPO,phenotype,PHENOTYPE_4026
4027,4027,4027,4027,4027,4027,4027,4027,6000854,Decreased circulating sulfate concentration,HPO,phenotype,PHENOTYPE_4027
4028,4028,4028,4028,4028,4028,4028,4028,34398,Toe deformity,HPO,phenotype,PHENOTYPE_4028
4029,4029,4029,4029,4029,4029,4029,4029,10178,Patchy sclerosis of toe phalanx,HPO,phenotype,PHENOTYPE_4029
4030,4030,4030,4030,4030,4030,4030,4030,31911,Abnormal fifth cranial nerve physiology,HPO,phenotype,PHENOTYPE_4030
4031,4031,4031,4031,4031,4031,4031,4031,25437,Macrozoospermia,HPO,phenotype,PHENOTYPE_4031
4032,4032,4032,4032,4032,4032,4032,4032,10428,Partial duplication of phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_4032
4033,4033,4033,4033,4033,4033,4033,4033,10508,Metatarsus valgus,HPO,phenotype,PHENOTYPE_4033
4034,4034,4034,4034,4034,4034,4034,4034,808,Penoscrotal hypospadias,HPO,phenotype,PHENOTYPE_4034
4035,4035,4035,4035,4035,4035,4035,4035,6000171,Abdominal wall mass,HPO,phenotype,PHENOTYPE_4035
4036,4036,4036,4036,4036,4036,4036,4036,9788,Quadriceps aplasia,HPO,phenotype,PHENOTYPE_4036
4037,4037,4037,4037,4037,4037,4037,4037,30675,Contracture of proximal interphalangeal joints of 2nd-5th fingers,HPO,phenotype,PHENOTYPE_4037
4038,4038,4038,4038,4038,4038,4038,4038,31993,Hoffmann sign,HPO,phenotype,PHENOTYPE_4038
4039,4039,4039,4039,4039,4039,4039,4039,12054,Choroidal melanoma,HPO,phenotype,PHENOTYPE_4039
4040,4040,4040,4040,4040,4040,4040,4040,20058,Abnormal red blood cell count,HPO,phenotype,PHENOTYPE_4040
4041,4041,4041,4041,4041,4041,4041,4041,12449,Sacroiliac joint synovitis,HPO,phenotype,PHENOTYPE_4041
4042,4042,4042,4042,4042,4042,4042,4042,1281,Tetany,HPO,phenotype,PHENOTYPE_4042
4043,4043,4043,4043,4043,4043,4043,4043,33965,Interlobular vein intimal mucoid edema,HPO,phenotype,PHENOTYPE_4043
4044,4044,4044,4044,4044,4044,4044,4044,3565,Elevated erythrocyte sedimentation rate,HPO,phenotype,PHENOTYPE_4044
4045,4045,4045,4045,4045,4045,4045,4045,2493,Upper motor neuron dysfunction,HPO,phenotype,PHENOTYPE_4045
4046,4046,4046,4046,4046,4046,4046,4046,40039,Onycholysis of fingernails,HPO,phenotype,PHENOTYPE_4046
4047,4047,4047,4047,4047,4047,4047,4047,10547,Muscle flaccidity,HPO,phenotype,PHENOTYPE_4047
4048,4048,4048,4048,4048,4048,4048,4048,32251,Abnormal immune system morphology,HPO,phenotype,PHENOTYPE_4048
4049,4049,4049,4049,4049,4049,4049,4049,5200401,Abnormal judgment,HPO,phenotype,PHENOTYPE_4049
4050,4050,4050,4050,4050,4050,4050,4050,32634,Intratubular myoglobin cast,HPO,phenotype,PHENOTYPE_4050
4051,4051,4051,4051,4051,4051,4051,4051,5787,Lumbar platyspondyly,HPO,phenotype,PHENOTYPE_4051
4052,4052,4052,4052,4052,4052,4052,4052,32921,Focal impaired awareness pedal automatism seizure,HPO,phenotype,PHENOTYPE_4052
4053,4053,4053,4053,4053,4053,4053,4053,10890,Morbus Osgood-Schlatter,HPO,phenotype,PHENOTYPE_4053
4054,4054,4054,4054,4054,4054,4054,4054,4000154,Liver leiomyoma,HPO,phenotype,PHENOTYPE_4054
4055,4055,4055,4055,4055,4055,4055,4055,33889,Abnormal renal arteriole morphology,HPO,phenotype,PHENOTYPE_4055
4056,4056,4056,4056,4056,4056,4056,4056,2329,Drowsiness,HPO,phenotype,PHENOTYPE_4056
4057,4057,4057,4057,4057,4057,4057,4057,30157,Flank pain,HPO,phenotype,PHENOTYPE_4057
4058,4058,4058,4058,4058,4058,4058,4058,3750,Increased muscle fatiguability,HPO,phenotype,PHENOTYPE_4058
4059,4059,4059,4059,4059,4059,4059,4059,9423,Bullet-shaped distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_4059
4060,4060,4060,4060,4060,4060,4060,4060,34315,Chronic cough,HPO,phenotype,PHENOTYPE_4060
4061,4061,4061,4061,4061,4061,4061,4061,5200207,Inattentiveness illusion,HPO,phenotype,PHENOTYPE_4061
4062,4062,4062,4062,4062,4062,4062,4062,31334,Cardiomyocyte inclusion bodies,HPO,phenotype,PHENOTYPE_4062
4063,4063,4063,4063,4063,4063,4063,4063,32967,Panacinar emphysema,HPO,phenotype,PHENOTYPE_4063
4064,4064,4064,4064,4064,4064,4064,4064,410135,Cold urticaria,HPO,phenotype,PHENOTYPE_4064
4065,4065,4065,4065,4065,4065,4065,4065,8544,Abnormally folded helix,HPO,phenotype,PHENOTYPE_4065
4066,4066,4066,4066,4066,4066,4066,4066,9790,Hemisacrum,HPO,phenotype,PHENOTYPE_4066
4067,4067,4067,4067,4067,4067,4067,4067,34496,Abnormal brain glutamine level by MRS,HPO,phenotype,PHENOTYPE_4067
4068,4068,4068,4068,4068,4068,4068,4068,32047,Focal cortical dysplasia type I,HPO,phenotype,PHENOTYPE_4068
4069,4069,4069,4069,4069,4069,4069,4069,6191,Deep palmar crease,HPO,phenotype,PHENOTYPE_4069
4070,4070,4070,4070,4070,4070,4070,4070,33342,Anti-aquaporin 4 antibody positivity,HPO,phenotype,PHENOTYPE_4070
4071,4071,4071,4071,4071,4071,4071,4071,4256,Abnormal trapezoid bone morphology,HPO,phenotype,PHENOTYPE_4071
4072,4072,4072,4072,4072,4072,4072,4072,2663,Delayed epiphyseal ossification,HPO,phenotype,PHENOTYPE_4072
4073,4073,4073,4073,4073,4073,4073,4073,100560,Upper limb asymmetry,HPO,phenotype,PHENOTYPE_4073
4074,4074,4074,4074,4074,4074,4074,4074,10248,Cone-shaped epiphyses of the distal phalanges of the hand,HPO,phenotype,PHENOTYPE_4074
4075,4075,4075,4075,4075,4075,4075,4075,30176,Asymmetric peripheral demyelination,HPO,phenotype,PHENOTYPE_4075
4076,4076,4076,4076,4076,4076,4076,4076,30415,Sarcomatoid carcinoma of the tongue,HPO,phenotype,PHENOTYPE_4076
4077,4077,4077,4077,4077,4077,4077,4077,32925,Focal impaired awareness sexual automatism seizure,HPO,phenotype,PHENOTYPE_4077
4078,4078,4078,4078,4078,4078,4078,4078,6000504,Poly-hill sign,HPO,phenotype,PHENOTYPE_4078
4079,4079,4079,4079,4079,4079,4079,4079,100081,Fragmentation of the epiphyses of the 5th toe,HPO,phenotype,PHENOTYPE_4079
4080,4080,4080,4080,4080,4080,4080,4080,31951,Nocturnal seizures,HPO,phenotype,PHENOTYPE_4080
4081,4081,4081,4081,4081,4081,4081,4081,5607,Abnormal tracheobronchial morphology,HPO,phenotype,PHENOTYPE_4081
4082,4082,4082,4082,4082,4082,4082,4082,713,Agitation,HPO,phenotype,PHENOTYPE_4082
4083,4083,4083,4083,4083,4083,4083,4083,9277,Contracture of the metacarpophalangeal joint of the 4th finger,HPO,phenotype,PHENOTYPE_4083
4084,4084,4084,4084,4084,4084,4084,4084,30563,Best corrected visual acuity 1.0 LogMAR,HPO,phenotype,PHENOTYPE_4084
4085,4085,4085,4085,4085,4085,4085,4085,5200325,Amplification of comfort with casual physical contact,HPO,phenotype,PHENOTYPE_4085
4086,4086,4086,4086,4086,4086,4086,4086,31432,Restricted or repetitive behaviors or interests,HPO,phenotype,PHENOTYPE_4086
4087,4087,4087,4087,4087,4087,4087,4087,500186,Abnormal CSF valine concentration,HPO,phenotype,PHENOTYPE_4087
4088,4088,4088,4088,4088,4088,4088,4088,100420,Partial duplication of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_4088
4089,4089,4089,4089,4089,4089,4089,4089,30434,Pilomatrixoma,HPO,phenotype,PHENOTYPE_4089
4090,4090,4090,4090,4090,4090,4090,4090,6000736,Positive bloodstream babesia nucleic acid pathogen test,HPO,phenotype,PHENOTYPE_4090
4091,4091,4091,4091,4091,4091,4091,4091,4471,Aplasia cutis congenita over the scalp vertex,HPO,phenotype,PHENOTYPE_4091
4092,4092,4092,4092,4092,4092,4092,4092,1965,Abnormal scalp morphology,HPO,phenotype,PHENOTYPE_4092
4093,4093,4093,4093,4093,4093,4093,4093,9981,Partial duplication of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_4093
4094,4094,4094,4094,4094,4094,4094,4094,25539,Abnormal B cell subset distribution,HPO,phenotype,PHENOTYPE_4094
4095,4095,4095,4095,4095,4095,4095,4095,33978,Reduced beta-hexosaminidase B activity,HPO,phenotype,PHENOTYPE_4095
4096,4096,4096,4096,4096,4096,4096,4096,11641,Coronary artery fistula,HPO,phenotype,PHENOTYPE_4096
4097,4097,4097,4097,4097,4097,4097,4097,40185,Macrothrombocytopenia,HPO,phenotype,PHENOTYPE_4097
4098,4098,4098,4098,4098,4098,4098,4098,6000136,Elbow localization,HPO,phenotype,PHENOTYPE_4098
4099,4099,4099,4099,4099,4099,4099,4099,31658,Third heart sound,HPO,phenotype,PHENOTYPE_4099
4100,4100,4100,4100,4100,4100,4100,4100,4000008,Formation of multiple pronuclei during fertilization,HPO,phenotype,PHENOTYPE_4100
4101,4101,4101,4101,4101,4101,4101,4101,30098,Reduced muscle dystrophin expression,HPO,phenotype,PHENOTYPE_4101
4102,4102,4102,4102,4102,4102,4102,4102,2831,Long coccyx,HPO,phenotype,PHENOTYPE_4102
4103,4103,4103,4103,4103,4103,4103,4103,5200291,REM sleep behavior disorder,HPO,phenotype,PHENOTYPE_4103
4104,4104,4104,4104,4104,4104,4104,4104,30643,Vitelliform-like retinal lesions,HPO,phenotype,PHENOTYPE_4104
4105,4105,4105,4105,4105,4105,4105,4105,9634,Patchy sclerosis of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_4105
4106,4106,4106,4106,4106,4106,4106,4106,100886,Abnormality of globe location,HPO,phenotype,PHENOTYPE_4106
4107,4107,4107,4107,4107,4107,4107,4107,25418,Renal cortical necrosis,HPO,phenotype,PHENOTYPE_4107
4108,4108,4108,4108,4108,4108,4108,4108,6001011,Wet voice,HPO,phenotype,PHENOTYPE_4108
4109,4109,4109,4109,4109,4109,4109,4109,500110,Positive urine cannabinoid test,HPO,phenotype,PHENOTYPE_4109
4110,4110,4110,4110,4110,4110,4110,4110,1218,Autoamputation,HPO,phenotype,PHENOTYPE_4110
4111,4111,4111,4111,4111,4111,4111,4111,32065,Abnormal serum bicarbonate concentration,HPO,phenotype,PHENOTYPE_4111
4112,4112,4112,4112,4112,4112,4112,4112,4267,Narrow small joints of the hand,HPO,phenotype,PHENOTYPE_4112
4113,4113,4113,4113,4113,4113,4113,4113,10918,Abnormal circulating cysteine concentration,HPO,phenotype,PHENOTYPE_4113
4114,4114,4114,4114,4114,4114,4114,4114,11734,Central adrenal insufficiency,HPO,phenotype,PHENOTYPE_4114
4115,4115,4115,4115,4115,4115,4115,4115,32772,Focal impaired awareness autonomic seizure with piloerection,HPO,phenotype,PHENOTYPE_4115
4116,4116,4116,4116,4116,4116,4116,4116,4562,Beaking of vertebral bodies T12-L3,HPO,phenotype,PHENOTYPE_4116
4117,4117,4117,4117,4117,4117,4117,4117,6101,Finger syndactyly,HPO,phenotype,PHENOTYPE_4117
4118,4118,4118,4118,4118,4118,4118,4118,10532,Paroxysmal vertigo,HPO,phenotype,PHENOTYPE_4118
4119,4119,4119,4119,4119,4119,4119,4119,100082,Irregular epiphyses of the 5th toe,HPO,phenotype,PHENOTYPE_4119
4120,4120,4120,4120,4120,4120,4120,4120,41235,Fractured hindlimb bone,HPO,phenotype,PHENOTYPE_4120
4121,4121,4121,4121,4121,4121,4121,4121,8675,Enlarged polycystic ovaries,HPO,phenotype,PHENOTYPE_4121
4122,4122,4122,4122,4122,4122,4122,4122,6000771,Abnormal peripapillary microvascular network,HPO,phenotype,PHENOTYPE_4122
4123,4123,4123,4123,4123,4123,4123,4123,845,Elevated circulating growth hormone concentration,HPO,phenotype,PHENOTYPE_4123
4124,4124,4124,4124,4124,4124,4124,4124,8368,Tarsal synostosis,HPO,phenotype,PHENOTYPE_4124
4125,4125,4125,4125,4125,4125,4125,4125,9531,Pseudoepiphysis of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_4125
4126,4126,4126,4126,4126,4126,4126,4126,32698,Focal cognitive seizure with conduction dysphasia/aphasia,HPO,phenotype,PHENOTYPE_4126
4127,4127,4127,4127,4127,4127,4127,4127,4485,Cessation of head growth,HPO,phenotype,PHENOTYPE_4127
4128,4128,4128,4128,4128,4128,4128,4128,34094,Anti-angiotensin receptor type-1 antibody positivity,HPO,phenotype,PHENOTYPE_4128
4129,4129,4129,4129,4129,4129,4129,4129,972,Palmoplantar hyperkeratosis,HPO,phenotype,PHENOTYPE_4129
4130,4130,4130,4130,4130,4130,4130,4130,4448,Fulminant hepatic failure,HPO,phenotype,PHENOTYPE_4130
4131,4131,4131,4131,4131,4131,4131,4131,8258,Congenital adrenal hyperplasia,HPO,phenotype,PHENOTYPE_4131
4132,4132,4132,4132,4132,4132,4132,4132,6001020,Knee joint effusion,HPO,phenotype,PHENOTYPE_4132
4133,4133,4133,4133,4133,4133,4133,4133,11684,Non-restrictive ventricular septal defect,HPO,phenotype,PHENOTYPE_4133
4134,4134,4134,4134,4134,4134,4134,4134,33511,Addictive substance use,HPO,phenotype,PHENOTYPE_4134
4135,4135,4135,4135,4135,4135,4135,4135,7807,Optic nerve compression,HPO,phenotype,PHENOTYPE_4135
4136,4136,4136,4136,4136,4136,4136,4136,260,Wide anterior fontanel,HPO,phenotype,PHENOTYPE_4136
4137,4137,4137,4137,4137,4137,4137,4137,33337,Abnormal gametogenesis,HPO,phenotype,PHENOTYPE_4137
4138,4138,4138,4138,4138,4138,4138,4138,12267,Absent respiratory ciliary axoneme radial spokes,HPO,phenotype,PHENOTYPE_4138
4139,4139,4139,4139,4139,4139,4139,4139,11848,Abdominal colic,HPO,phenotype,PHENOTYPE_4139
4140,4140,4140,4140,4140,4140,4140,4140,34410,Angiokeratoma circumscriptum naeviforme,HPO,phenotype,PHENOTYPE_4140
4141,4141,4141,4141,4141,4141,4141,4141,9140,Synostosis involving bones of the feet,HPO,phenotype,PHENOTYPE_4141
4142,4142,4142,4142,4142,4142,4142,4142,31818,Abnormal waist to hip ratio,HPO,phenotype,PHENOTYPE_4142
4143,4143,4143,4143,4143,4143,4143,4143,33148,Increased circulating isovaleric acid concentration,HPO,phenotype,PHENOTYPE_4143
4144,4144,4144,4144,4144,4144,4144,4144,34510,Abnormal muscle tissue enzyme activity or level,HPO,phenotype,PHENOTYPE_4144
4145,4145,4145,4145,4145,4145,4145,4145,5897,Severe generalized osteoporosis,HPO,phenotype,PHENOTYPE_4145
4146,4146,4146,4146,4146,4146,4146,4146,40286,Abnormal axial muscle morphology,HPO,phenotype,PHENOTYPE_4146
4147,4147,4147,4147,4147,4147,4147,4147,500151,Hypercystinemia,HPO,phenotype,PHENOTYPE_4147
4148,4148,4148,4148,4148,4148,4148,4148,5487,Prominent metopic ridge,HPO,phenotype,PHENOTYPE_4148
4149,4149,4149,4149,4149,4149,4149,4149,6000861,Diminished tissue glycogen branching enzyme activity,HPO,phenotype,PHENOTYPE_4149
4150,4150,4150,4150,4150,4150,4150,4150,268,Dolichocephaly,HPO,phenotype,PHENOTYPE_4150
4151,4151,4151,4151,4151,4151,4151,4151,8464,Absent spinous processes of lower thoracic and lumbar vertebrae,HPO,phenotype,PHENOTYPE_4151
4152,4152,4152,4152,4152,4152,4152,4152,10403,Duplication of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_4152
4153,4153,4153,4153,4153,4153,4153,4153,9695,Stippling of thumb epiphysis,HPO,phenotype,PHENOTYPE_4153
4154,4154,4154,4154,4154,4154,4154,4154,166,Severe periodontitis,HPO,phenotype,PHENOTYPE_4154
4155,4155,4155,4155,4155,4155,4155,4155,25465,Abnormal circulating beta globulin level,HPO,phenotype,PHENOTYPE_4155
4156,4156,4156,4156,4156,4156,4156,4156,33761,Xanthogranulomatous pyelonephritis,HPO,phenotype,PHENOTYPE_4156
4157,4157,4157,4157,4157,4157,4157,4157,34192,Pulmonary thromboembolism,HPO,phenotype,PHENOTYPE_4157
4158,4158,4158,4158,4158,4158,4158,4158,34360,Action myoclonus,HPO,phenotype,PHENOTYPE_4158
4159,4159,4159,4159,4159,4159,4159,4159,6000293,History of recent iodated contrast medium administration,HPO,phenotype,PHENOTYPE_4159
4160,4160,4160,4160,4160,4160,4160,4160,10306,Short thorax,HPO,phenotype,PHENOTYPE_4160
4161,4161,4161,4161,4161,4161,4161,4161,25670,Syntelencephaly,HPO,phenotype,PHENOTYPE_4161
4162,4162,4162,4162,4162,4162,4162,4162,100430,Broad proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_4162
4163,4163,4163,4163,4163,4163,4163,4163,100436,Bullet-shaped middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_4163
4164,4164,4164,4164,4164,4164,4164,4164,12827,Borderline,HPO,phenotype,PHENOTYPE_4164
4165,4165,4165,4165,4165,4165,4165,4165,10471,Oligosacchariduria,HPO,phenotype,PHENOTYPE_4165
4166,4166,4166,4166,4166,4166,4166,4166,10337,Aplasia/Hypoplasia of the 4th toe,HPO,phenotype,PHENOTYPE_4166
4167,4167,4167,4167,4167,4167,4167,4167,410277,Sternal pit,HPO,phenotype,PHENOTYPE_4167
4168,4168,4168,4168,4168,4168,4168,4168,6960,Choroid plexus calcification,HPO,phenotype,PHENOTYPE_4168
4169,4169,4169,4169,4169,4169,4169,4169,430016,Abnormality of tensor veli palatini muscle,HPO,phenotype,PHENOTYPE_4169
4170,4170,4170,4170,4170,4170,4170,4170,31592,Situs inversus with levocardia,HPO,phenotype,PHENOTYPE_4170
4171,4171,4171,4171,4171,4171,4171,4171,34013,Curvilinear pericallosal lipoma,HPO,phenotype,PHENOTYPE_4171
4172,4172,4172,4172,4172,4172,4172,4172,5973,Fructose intolerance,HPO,phenotype,PHENOTYPE_4172
4173,4173,4173,4173,4173,4173,4173,4173,4780,Elbow hypertrichosis,HPO,phenotype,PHENOTYPE_4173
4174,4174,4174,4174,4174,4174,4174,4174,1423,X-linked dominant inheritance,HPO,phenotype,PHENOTYPE_4174
4175,4175,4175,4175,4175,4175,4175,4175,32203,Lymphoid nodular hyperplasia,HPO,phenotype,PHENOTYPE_4175
4176,4176,4176,4176,4176,4176,4176,4176,100585,Telangiectasia of the skin,HPO,phenotype,PHENOTYPE_4176
4177,4177,4177,4177,4177,4177,4177,4177,25688,Abnormal amyloid beta peptide CSF concentration,HPO,phenotype,PHENOTYPE_4177
4178,4178,4178,4178,4178,4178,4178,4178,10863,Receptive language delay,HPO,phenotype,PHENOTYPE_4178
4179,4179,4179,4179,4179,4179,4179,4179,20179,Abnormal circulating haptoglobin concentration,HPO,phenotype,PHENOTYPE_4179
4180,4180,4180,4180,4180,4180,4180,4180,12434,Delayed early-childhood social milestone development,HPO,phenotype,PHENOTYPE_4180
4181,4181,4181,4181,4181,4181,4181,4181,33503,Elevated CSF fumarate concentration,HPO,phenotype,PHENOTYPE_4181
4182,4182,4182,4182,4182,4182,4182,4182,7089,Facial-lingual fasciculations,HPO,phenotype,PHENOTYPE_4182
4183,4183,4183,4183,4183,4183,4183,4183,30336,"Absence of CD4-positive, CD25-positive regulatory T cells",HPO,phenotype,PHENOTYPE_4183
4184,4184,4184,4184,4184,4184,4184,4184,7968,Remnants of the hyaloid vascular system,HPO,phenotype,PHENOTYPE_4184
4185,4185,4185,4185,4185,4185,4185,4185,10426,Complete duplication of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_4185
4186,4186,4186,4186,4186,4186,4186,4186,25677,Fetal chylothorax,HPO,phenotype,PHENOTYPE_4186
4187,4187,4187,4187,4187,4187,4187,4187,11802,Hamartoma of tongue,HPO,phenotype,PHENOTYPE_4187
4188,4188,4188,4188,4188,4188,4188,4188,4000041,AA amyloidosis,HPO,phenotype,PHENOTYPE_4188
4189,4189,4189,4189,4189,4189,4189,4189,8069,Neoplasm of the skin,HPO,phenotype,PHENOTYPE_4189
4190,4190,4190,4190,4190,4190,4190,4190,410015,Abnormal peripheral nervous system ganglion morphology,HPO,phenotype,PHENOTYPE_4190
4191,4191,4191,4191,4191,4191,4191,4191,34954,Thymic carcinoid tumor,HPO,phenotype,PHENOTYPE_4191
4192,4192,4192,4192,4192,4192,4192,4192,6266,Small placenta,HPO,phenotype,PHENOTYPE_4192
4193,4193,4193,4193,4193,4193,4193,4193,9547,Broad phalanges of the 2nd finger,HPO,phenotype,PHENOTYPE_4193
4194,4194,4194,4194,4194,4194,4194,4194,10945,Fetal pyelectasis,HPO,phenotype,PHENOTYPE_4194
4195,4195,4195,4195,4195,4195,4195,4195,100453,Osteolytic defects of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_4195
4196,4196,4196,4196,4196,4196,4196,4196,5200327,Diminishment of sexual behavior,HPO,phenotype,PHENOTYPE_4196
4197,4197,4197,4197,4197,4197,4197,4197,11740,Glucocortocoid-insensitive primary hyperaldosteronism,HPO,phenotype,PHENOTYPE_4197
4198,4198,4198,4198,4198,4198,4198,4198,31981,Elevated urine glycolate,HPO,phenotype,PHENOTYPE_4198
4199,4199,4199,4199,4199,4199,4199,4199,6000095,Draining sinus tract in skin,HPO,phenotype,PHENOTYPE_4199
4200,4200,4200,4200,4200,4200,4200,4200,12298,Long middle phalanx of finger,HPO,phenotype,PHENOTYPE_4200
4201,4201,4201,4201,4201,4201,4201,4201,41228,Fractured distal tarsal bone 3,HPO,phenotype,PHENOTYPE_4201
4202,4202,4202,4202,4202,4202,4202,4202,100913,Sclerosis of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_4202
4203,4203,4203,4203,4203,4203,4203,4203,100470,Symphalangism affecting the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_4203
4204,4204,4204,4204,4204,4204,4204,4204,4813,Post-transfusion thrombocytopenia,HPO,phenotype,PHENOTYPE_4204
4205,4205,4205,4205,4205,4205,4205,4205,7193,Bilateral tonic-clonic seizure on awakening,HPO,phenotype,PHENOTYPE_4205
4206,4206,4206,4206,4206,4206,4206,4206,8282,Unconjugated hyperbilirubinemia,HPO,phenotype,PHENOTYPE_4206
4207,4207,4207,4207,4207,4207,4207,4207,6000266,2-oxoadipic aciduria,HPO,phenotype,PHENOTYPE_4207
4208,4208,4208,4208,4208,4208,4208,4208,30307,Flared lower limb metaphysis,HPO,phenotype,PHENOTYPE_4208
4209,4209,4209,4209,4209,4209,4209,4209,3133,Abnormality of the spinocerebellar tracts,HPO,phenotype,PHENOTYPE_4209
4210,4210,4210,4210,4210,4210,4210,4210,30913,Exaggerated rugosity of the labia majora,HPO,phenotype,PHENOTYPE_4210
4211,4211,4211,4211,4211,4211,4211,4211,7618,Subcutaneous calcification,HPO,phenotype,PHENOTYPE_4211
4212,4212,4212,4212,4212,4212,4212,4212,30732,Dysplastic tricuspid valve,HPO,phenotype,PHENOTYPE_4212
4213,4213,4213,4213,4213,4213,4213,4213,5886,Aphalangy of the hands,HPO,phenotype,PHENOTYPE_4213
4214,4214,4214,4214,4214,4214,4214,4214,33036,Decreased nasal nitric oxide,HPO,phenotype,PHENOTYPE_4214
4215,4215,4215,4215,4215,4215,4215,4215,40059,Calcification of ribs,HPO,phenotype,PHENOTYPE_4215
4216,4216,4216,4216,4216,4216,4216,4216,1885,Short 2nd toe,HPO,phenotype,PHENOTYPE_4216
4217,4217,4217,4217,4217,4217,4217,4217,25550,Elevated circulating ribitol concentration,HPO,phenotype,PHENOTYPE_4217
4218,4218,4218,4218,4218,4218,4218,4218,5316,Peripheral pulmonary vessel aplasia,HPO,phenotype,PHENOTYPE_4218
4219,4219,4219,4219,4219,4219,4219,4219,2043,Esophageal stricture,HPO,phenotype,PHENOTYPE_4219
4220,4220,4220,4220,4220,4220,4220,4220,31588,Unhappy demeanor,HPO,phenotype,PHENOTYPE_4220
4221,4221,4221,4221,4221,4221,4221,4221,31526,Subretinal fluid,HPO,phenotype,PHENOTYPE_4221
4222,4222,4222,4222,4222,4222,4222,4222,3029,Enlargement of the ankles,HPO,phenotype,PHENOTYPE_4222
4223,4223,4223,4223,4223,4223,4223,4223,4000095,Elevated circulating thymine concentration,HPO,phenotype,PHENOTYPE_4223
4224,4224,4224,4224,4224,4224,4224,4224,1638,Cardiomyopathy,HPO,phenotype,PHENOTYPE_4224
4225,4225,4225,4225,4225,4225,4225,4225,5292,Intimal thickening in the coronary arteries,HPO,phenotype,PHENOTYPE_4225
4226,4226,4226,4226,4226,4226,4226,4226,6000796,Positive bloodstream VDRL test,HPO,phenotype,PHENOTYPE_4226
4227,4227,4227,4227,4227,4227,4227,4227,3538,Increased iduronate sulfatase level,HPO,phenotype,PHENOTYPE_4227
4228,4228,4228,4228,4228,4228,4228,4228,4603,Hyperconvex vertebral body endplates,HPO,phenotype,PHENOTYPE_4228
4229,4229,4229,4229,4229,4229,4229,4229,32985,Dust particle inclusion in alveolar macrophages,HPO,phenotype,PHENOTYPE_4229
4230,4230,4230,4230,4230,4230,4230,4230,1443,Abnormality of the gluteal musculature,HPO,phenotype,PHENOTYPE_4230
4231,4231,4231,4231,4231,4231,4231,4231,33168,Reduced mevalonate kinase activity,HPO,phenotype,PHENOTYPE_4231
4232,4232,4232,4232,4232,4232,4232,4232,33186,Misalignment of the pulmonary veins,HPO,phenotype,PHENOTYPE_4232
4233,4233,4233,4233,4233,4233,4233,4233,100439,Bullet-shaped proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_4233
4234,4234,4234,4234,4234,4234,4234,4234,31676,Monomorphic ventricular tachycardia,HPO,phenotype,PHENOTYPE_4234
4235,4235,4235,4235,4235,4235,4235,4235,33284,Diffusely thickened glomerular basement membrane,HPO,phenotype,PHENOTYPE_4235
4236,4236,4236,4236,4236,4236,4236,4236,30318,Angular cheilitis,HPO,phenotype,PHENOTYPE_4236
4237,4237,4237,4237,4237,4237,4237,4237,500257,Increased urine isobutyrylglycine concentration,HPO,phenotype,PHENOTYPE_4237
4238,4238,4238,4238,4238,4238,4238,4238,6670,Impaired myocardial contractility,HPO,phenotype,PHENOTYPE_4238
4239,4239,4239,4239,4239,4239,4239,4239,33104,Inappropriate absence of fever,HPO,phenotype,PHENOTYPE_4239
4240,4240,4240,4240,4240,4240,4240,4240,25201,Abnormal circulating apolipoprotein concentration,HPO,phenotype,PHENOTYPE_4240
4241,4241,4241,4241,4241,4241,4241,4241,198,Absence of Stensen duct,HPO,phenotype,PHENOTYPE_4241
4242,4242,4242,4242,4242,4242,4242,4242,20228,Biospecimen phenotypic feature,HPO,phenotype,PHENOTYPE_4242
4243,4243,4243,4243,4243,4243,4243,4243,12784,Perinephritis,HPO,phenotype,PHENOTYPE_4243
4244,4244,4244,4244,4244,4244,4244,4244,8090,Ankylosis of feet small joints,HPO,phenotype,PHENOTYPE_4244
4245,4245,4245,4245,4245,4245,4245,4245,100198,Pseudoepiphysis of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_4245
4246,4246,4246,4246,4246,4246,4246,4246,200114,Metabolic alkalosis,HPO,phenotype,PHENOTYPE_4246
4247,4247,4247,4247,4247,4247,4247,4247,25305,Quotidian,HPO,phenotype,PHENOTYPE_4247
4248,4248,4248,4248,4248,4248,4248,4248,100088,Abnormality of the epiphysis of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_4248
4249,4249,4249,4249,4249,4249,4249,4249,7369,Atrophy/Degeneration affecting the cerebrum,HPO,phenotype,PHENOTYPE_4249
4250,4250,4250,4250,4250,4250,4250,4250,32110,Severely reduced contrast sensitivity,HPO,phenotype,PHENOTYPE_4250
4251,4251,4251,4251,4251,4251,4251,4251,3443,Decreased size of nerve terminals,HPO,phenotype,PHENOTYPE_4251
4252,4252,4252,4252,4252,4252,4252,4252,30465,Undetectable light-adapted electroretinogram,HPO,phenotype,PHENOTYPE_4252
4253,4253,4253,4253,4253,4253,4253,4253,8593,Prominent antitragus,HPO,phenotype,PHENOTYPE_4253
4254,4254,4254,4254,4254,4254,4254,4254,1670,Asymmetric septal hypertrophy,HPO,phenotype,PHENOTYPE_4254
4255,4255,4255,4255,4255,4255,4255,4255,11642,Abnormal coronary sinus morphology,HPO,phenotype,PHENOTYPE_4255
4256,4256,4256,4256,4256,4256,4256,4256,31587,Tessier number 30 facial cleft,HPO,phenotype,PHENOTYPE_4256
4257,4257,4257,4257,4257,4257,4257,4257,6424,Elongated radius,HPO,phenotype,PHENOTYPE_4257
4258,4258,4258,4258,4258,4258,4258,4258,5910,Rhomboid or triangular shaped 5th finger middle phalanx,HPO,phenotype,PHENOTYPE_4258
4259,4259,4259,4259,4259,4259,4259,4259,30260,Microphallus,HPO,phenotype,PHENOTYPE_4259
4260,4260,4260,4260,4260,4260,4260,4260,7544,Piebald skin depigmentation,HPO,phenotype,PHENOTYPE_4260
4261,4261,4261,4261,4261,4261,4261,4261,30671,Abnormal common tendinous ring morphology,HPO,phenotype,PHENOTYPE_4261
4262,4262,4262,4262,4262,4262,4262,4262,12791,Abnormal humeral ossification,HPO,phenotype,PHENOTYPE_4262
4263,4263,4263,4263,4263,4263,4263,4263,31502,Trophoblastic tumor,HPO,phenotype,PHENOTYPE_4263
4264,4264,4264,4264,4264,4264,4264,4264,5882,Dermatoglyphic variants,HPO,phenotype,PHENOTYPE_4264
4265,4265,4265,4265,4265,4265,4265,4265,32303,Lambda Bence Jones proteinuria,HPO,phenotype,PHENOTYPE_4265
4266,4266,4266,4266,4266,4266,4266,4266,2063,Rigidity,HPO,phenotype,PHENOTYPE_4266
4267,4267,4267,4267,4267,4267,4267,4267,12848,Small intestinal stenosis,HPO,phenotype,PHENOTYPE_4267
4268,4268,4268,4268,4268,4268,4268,4268,33776,Enamel pearls,HPO,phenotype,PHENOTYPE_4268
4269,4269,4269,4269,4269,4269,4269,4269,9322,Bracket epiphysis of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_4269
4270,4270,4270,4270,4270,4270,4270,4270,8754,Laryngeal calcification,HPO,phenotype,PHENOTYPE_4270
4271,4271,4271,4271,4271,4271,4271,4271,2249,Melena,HPO,phenotype,PHENOTYPE_4271
4272,4272,4272,4272,4272,4272,4272,4272,12152,Foveoschisis,HPO,phenotype,PHENOTYPE_4272
4273,4273,4273,4273,4273,4273,4273,4273,7469,Palmoplantar cutis gyrata,HPO,phenotype,PHENOTYPE_4273
4274,4274,4274,4274,4274,4274,4274,4274,11613,Interrupted aortic arch type B,HPO,phenotype,PHENOTYPE_4274
4275,4275,4275,4275,4275,4275,4275,4275,9132,Abnormal tarsal bone mineral density,HPO,phenotype,PHENOTYPE_4275
4276,4276,4276,4276,4276,4276,4276,4276,11147,Typical absence seizure,HPO,phenotype,PHENOTYPE_4276
4277,4277,4277,4277,4277,4277,4277,4277,41073,Fractured thoracic vertebra,HPO,phenotype,PHENOTYPE_4277
4278,4278,4278,4278,4278,4278,4278,4278,10250,Fragmentation of the epiphyses of the distal phalanges of the hand,HPO,phenotype,PHENOTYPE_4278
4279,4279,4279,4279,4279,4279,4279,4279,3645,Prolonged partial thromboplastin time,HPO,phenotype,PHENOTYPE_4279
4280,4280,4280,4280,4280,4280,4280,4280,100673,Vaginal hydrocele,HPO,phenotype,PHENOTYPE_4280
4281,4281,4281,4281,4281,4281,4281,4281,6000455,Ectopic gallstone,HPO,phenotype,PHENOTYPE_4281
4282,4282,4282,4282,4282,4282,4282,4282,7516,Redundant skin on fingers,HPO,phenotype,PHENOTYPE_4282
4283,4283,4283,4283,4283,4283,4283,4283,25254,Ameliorated by,HPO,phenotype,PHENOTYPE_4283
4284,4284,4284,4284,4284,4284,4284,4284,7661,Abnormality of chorioretinal pigmentation,HPO,phenotype,PHENOTYPE_4284
4285,4285,4285,4285,4285,4285,4285,4285,32245,Abnormal metabolism,HPO,phenotype,PHENOTYPE_4285
4286,4286,4286,4286,4286,4286,4286,4286,33105,Interhypothalamic adhesion,HPO,phenotype,PHENOTYPE_4286
4287,4287,4287,4287,4287,4287,4287,4287,2851,"Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells",HPO,phenotype,PHENOTYPE_4287
4288,4288,4288,4288,4288,4288,4288,4288,12183,Hyperplastic colonic polyposis,HPO,phenotype,PHENOTYPE_4288
4289,4289,4289,4289,4289,4289,4289,4289,25653,Placenta percreta,HPO,phenotype,PHENOTYPE_4289
4290,4290,4290,4290,4290,4290,4290,4290,6000591,Loose body in joint,HPO,phenotype,PHENOTYPE_4290
4291,4291,4291,4291,4291,4291,4291,4291,30613,Abnormal foveal morphology on macular OCT,HPO,phenotype,PHENOTYPE_4291
4292,4292,4292,4292,4292,4292,4292,4292,34898,Elevated circulating growth hormone-releasing hormone concentration,HPO,phenotype,PHENOTYPE_4292
4293,4293,4293,4293,4293,4293,4293,4293,32044,Decreased vigilance,HPO,phenotype,PHENOTYPE_4293
4294,4294,4294,4294,4294,4294,4294,4294,6000465,Elevated urine mesaconic acid level,HPO,phenotype,PHENOTYPE_4294
4295,4295,4295,4295,4295,4295,4295,4295,7586,Telangiectases producing 'marbled' skin,HPO,phenotype,PHENOTYPE_4295
4296,4296,4296,4296,4296,4296,4296,4296,20155,Abnormal oocyte morphology,HPO,phenotype,PHENOTYPE_4296
4297,4297,4297,4297,4297,4297,4297,4297,25352,Typically de novo,HPO,phenotype,PHENOTYPE_4297
4298,4298,4298,4298,4298,4298,4298,4298,100610,Maternal hyperphenylalaninemia,HPO,phenotype,PHENOTYPE_4298
4299,4299,4299,4299,4299,4299,4299,4299,7755,Juvenile epithelial corneal dystrophy,HPO,phenotype,PHENOTYPE_4299
4300,4300,4300,4300,4300,4300,4300,4300,33833,Elevated circulating soluble CD25 concentration,HPO,phenotype,PHENOTYPE_4300
4301,4301,4301,4301,4301,4301,4301,4301,500087,Peripapillary atrophy,HPO,phenotype,PHENOTYPE_4301
4302,4302,4302,4302,4302,4302,4302,4302,12090,Abnormal pancreas morphology,HPO,phenotype,PHENOTYPE_4302
4303,4303,4303,4303,4303,4303,4303,4303,10828,Hemifacial spasm,HPO,phenotype,PHENOTYPE_4303
4304,4304,4304,4304,4304,4304,4304,4304,6001084,T2-hyperintense putaminal rim,HPO,phenotype,PHENOTYPE_4304
4305,4305,4305,4305,4305,4305,4305,4305,8742,Prominent prostate median bar,HPO,phenotype,PHENOTYPE_4305
4306,4306,4306,4306,4306,4306,4306,4306,200154,Agenesis of mandibular lateral incisor,HPO,phenotype,PHENOTYPE_4306
4307,4307,4307,4307,4307,4307,4307,4307,2059,Cerebral atrophy,HPO,phenotype,PHENOTYPE_4307
4308,4308,4308,4308,4308,4308,4308,4308,2478,Progressive spastic quadriplegia,HPO,phenotype,PHENOTYPE_4308
4309,4309,4309,4309,4309,4309,4309,4309,11603,Congenital malformation of the great arteries,HPO,phenotype,PHENOTYPE_4309
4310,4310,4310,4310,4310,4310,4310,4310,9301,Short proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_4310
4311,4311,4311,4311,4311,4311,4311,4311,2143,Abnormal spinal cord morphology,HPO,phenotype,PHENOTYPE_4311
4312,4312,4312,4312,4312,4312,4312,4312,10495,Amniotic constriction rings of legs,HPO,phenotype,PHENOTYPE_4312
4313,4313,4313,4313,4313,4313,4313,4313,4312,Abnormal reticulocyte morphology,HPO,phenotype,PHENOTYPE_4313
4314,4314,4314,4314,4314,4314,4314,4314,5200240,Delayed spoken language comprehension,HPO,phenotype,PHENOTYPE_4314
4315,4315,4315,4315,4315,4315,4315,4315,589,Coloboma,HPO,phenotype,PHENOTYPE_4315
4316,4316,4316,4316,4316,4316,4316,4316,8747,Cartilaginous ossification of larynx,HPO,phenotype,PHENOTYPE_4316
4317,4317,4317,4317,4317,4317,4317,4317,100573,Muscular cardiac diverticulum,HPO,phenotype,PHENOTYPE_4317
4318,4318,4318,4318,4318,4318,4318,4318,9330,Stippling of the epiphysis of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_4318
4319,4319,4319,4319,4319,4319,4319,4319,1884,Talipes calcaneovalgus,HPO,phenotype,PHENOTYPE_4319
4320,4320,4320,4320,4320,4320,4320,4320,32190,Abnormal meniscus morphology,HPO,phenotype,PHENOTYPE_4320
4321,4321,4321,4321,4321,4321,4321,4321,33198,Triggered by viral infection,HPO,phenotype,PHENOTYPE_4321
4322,4322,4322,4322,4322,4322,4322,4322,31181,Necrolytic migratory erythema,HPO,phenotype,PHENOTYPE_4322
4323,4323,4323,4323,4323,4323,4323,4323,100308,Cerebral cortical hemiatrophy,HPO,phenotype,PHENOTYPE_4323
4324,4324,4324,4324,4324,4324,4324,4324,32357,Decreased post-bronchodilator forced vital capacity,HPO,phenotype,PHENOTYPE_4324
4325,4325,4325,4325,4325,4325,4325,4325,10441,Ectopic accessory finger-like appendage,HPO,phenotype,PHENOTYPE_4325
4326,4326,4326,4326,4326,4326,4326,4326,11830,Abnormal oral mucosa morphology,HPO,phenotype,PHENOTYPE_4326
4327,4327,4327,4327,4327,4327,4327,4327,53,Macroorchidism,HPO,phenotype,PHENOTYPE_4327
4328,4328,4328,4328,4328,4328,4328,4328,33126,Cutaneous necrosis,HPO,phenotype,PHENOTYPE_4328
4329,4329,4329,4329,4329,4329,4329,4329,9228,Bullet-shaped proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_4329
4330,4330,4330,4330,4330,4330,4330,4330,32902,Focal perseverative automatism seizure,HPO,phenotype,PHENOTYPE_4330
4331,4331,4331,4331,4331,4331,4331,4331,2046,Heat intolerance,HPO,phenotype,PHENOTYPE_4331
4332,4332,4332,4332,4332,4332,4332,4332,3797,Limb-girdle muscle atrophy,HPO,phenotype,PHENOTYPE_4332
4333,4333,4333,4333,4333,4333,4333,4333,100604,Neoplasm of the lip,HPO,phenotype,PHENOTYPE_4333
4334,4334,4334,4334,4334,4334,4334,4334,4000149,Lymph node necrosis,HPO,phenotype,PHENOTYPE_4334
4335,4335,4335,4335,4335,4335,4335,4335,35006,Hepatic sinusoidal dilatation,HPO,phenotype,PHENOTYPE_4335
4336,4336,4336,4336,4336,4336,4336,4336,10238,Triangular epiphyses of the phalanges of the hand,HPO,phenotype,PHENOTYPE_4336
4337,4337,4337,4337,4337,4337,4337,4337,4941,Extrahepatic portal hypertension,HPO,phenotype,PHENOTYPE_4337
4338,4338,4338,4338,4338,4338,4338,4338,33362,Recurrent coughing spasms,HPO,phenotype,PHENOTYPE_4338
4339,4339,4339,4339,4339,4339,4339,4339,100207,Irregular epiphysis of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_4339
4340,4340,4340,4340,4340,4340,4340,4340,10258,Bracket epiphyses of the middle phalanges of the hand,HPO,phenotype,PHENOTYPE_4340
4341,4341,4341,4341,4341,4341,4341,4341,6000542,Positive CSF mycobacterium tuberculosis nucleic acid test,HPO,phenotype,PHENOTYPE_4341
4342,4342,4342,4342,4342,4342,4342,4342,7778,Posterior retinal neovascularization,HPO,phenotype,PHENOTYPE_4342
4343,4343,4343,4343,4343,4343,4343,4343,34087,Anti-U11/U12 RNP antibody positivity,HPO,phenotype,PHENOTYPE_4343
4344,4344,4344,4344,4344,4344,4344,4344,7451,Ipsilateral lack of facial sweating,HPO,phenotype,PHENOTYPE_4344
4345,4345,4345,4345,4345,4345,4345,4345,30923,5-minute APGAR score of 3,HPO,phenotype,PHENOTYPE_4345
4346,4346,4346,4346,4346,4346,4346,4346,32971,Computed tomographic halo sign,HPO,phenotype,PHENOTYPE_4346
4347,4347,4347,4347,4347,4347,4347,4347,100231,Pseudoepiphysis of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_4347
4348,4348,4348,4348,4348,4348,4348,4348,34912,Elevated circulating apolipoprotein E concentration,HPO,phenotype,PHENOTYPE_4348
4349,4349,4349,4349,4349,4349,4349,4349,34036,Pseudo-chilblains on toes,HPO,phenotype,PHENOTYPE_4349
4350,4350,4350,4350,4350,4350,4350,4350,6000801,Positive Mazzotti test,HPO,phenotype,PHENOTYPE_4350
4351,4351,4351,4351,4351,4351,4351,4351,3000036,Abnormal head blood vessel morphology,HPO,phenotype,PHENOTYPE_4351
4352,4352,4352,4352,4352,4352,4352,4352,6000138,Heel localization,HPO,phenotype,PHENOTYPE_4352
4353,4353,4353,4353,4353,4353,4353,4353,100706,Abnormal oligodendroglia morphology,HPO,phenotype,PHENOTYPE_4353
4354,4354,4354,4354,4354,4354,4354,4354,6000928,Positive CSF JC-virus antibody positivity,HPO,phenotype,PHENOTYPE_4354
4355,4355,4355,4355,4355,4355,4355,4355,9118,Aplasia/Hypoplasia of the mandible,HPO,phenotype,PHENOTYPE_4355
4356,4356,4356,4356,4356,4356,4356,4356,10797,Hemangioblastoma,HPO,phenotype,PHENOTYPE_4356
4357,4357,4357,4357,4357,4357,4357,4357,20097,Infection due to encapsulated bacteria,HPO,phenotype,PHENOTYPE_4357
4358,4358,4358,4358,4358,4358,4358,4358,25625,Elevated proportion of CD4+ effector memory T cells,HPO,phenotype,PHENOTYPE_4358
4359,4359,4359,4359,4359,4359,4359,4359,9069,Lethal infantile mitochondrial myopathy,HPO,phenotype,PHENOTYPE_4359
4360,4360,4360,4360,4360,4360,4360,4360,6001081,"Elevated urinary 2,4-dihydroxyglutarate level",HPO,phenotype,PHENOTYPE_4360
4361,4361,4361,4361,4361,4361,4361,4361,9291,Aplasia of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_4361
4362,4362,4362,4362,4362,4362,4362,4362,34062,Anti-insulin antibody positivity,HPO,phenotype,PHENOTYPE_4362
4363,4363,4363,4363,4363,4363,4363,4363,31546,Cardiac conduction abnormality,HPO,phenotype,PHENOTYPE_4363
4364,4364,4364,4364,4364,4364,4364,4364,6000832,Reduced tissue phosphorylase kinase activity,HPO,phenotype,PHENOTYPE_4364
4365,4365,4365,4365,4365,4365,4365,4365,32328,Temporomandibular joint adhesion,HPO,phenotype,PHENOTYPE_4365
4366,4366,4366,4366,4366,4366,4366,4366,9055,Generalized limb muscle atrophy,HPO,phenotype,PHENOTYPE_4366
4367,4367,4367,4367,4367,4367,4367,4367,8848,Moderately short stature,HPO,phenotype,PHENOTYPE_4367
4368,4368,4368,4368,4368,4368,4368,4368,6000410,Small intestine mass,HPO,phenotype,PHENOTYPE_4368
4369,4369,4369,4369,4369,4369,4369,4369,100224,Absent epiphysis of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_4369
4370,4370,4370,4370,4370,4370,4370,4370,32309,Abnormal granulocyte count,HPO,phenotype,PHENOTYPE_4370
4371,4371,4371,4371,4371,4371,4371,4371,6001178,Clavicular edema,HPO,phenotype,PHENOTYPE_4371
4372,4372,4372,4372,4372,4372,4372,4372,2872,"Apneic episodes precipitated by illness, fatigue, stress",HPO,phenotype,PHENOTYPE_4372
4373,4373,4373,4373,4373,4373,4373,4373,32664,Adversive status epilepticus,HPO,phenotype,PHENOTYPE_4373
4374,4374,4374,4374,4374,4374,4374,4374,33286,Thickened glomerular basement membranes with electron dense deposits,HPO,phenotype,PHENOTYPE_4374
4375,4375,4375,4375,4375,4375,4375,4375,12229,CSF pleocytosis,HPO,phenotype,PHENOTYPE_4375
4376,4376,4376,4376,4376,4376,4376,4376,5920,Abnormal epiphysis morphology of the phalanges of the hand,HPO,phenotype,PHENOTYPE_4376
4377,4377,4377,4377,4377,4377,4377,4377,8315,Decreased plasma free carnitine,HPO,phenotype,PHENOTYPE_4377
4378,4378,4378,4378,4378,4378,4378,4378,6000124,"Positive 2,4-dinitrophenylhydrazine urine test",HPO,phenotype,PHENOTYPE_4378
4379,4379,4379,4379,4379,4379,4379,4379,32798,Focal impaired awareness cognitive seizure with neglect,HPO,phenotype,PHENOTYPE_4379
4380,4380,4380,4380,4380,4380,4380,4380,6108,Tapered metacarpals,HPO,phenotype,PHENOTYPE_4380
4381,4381,4381,4381,4381,4381,4381,4381,8346,Increased red cell sickling tendency,HPO,phenotype,PHENOTYPE_4381
4382,4382,4382,4382,4382,4382,4382,4382,34086,Anti-PM-Scl75 antibody positivity,HPO,phenotype,PHENOTYPE_4382
4383,4383,4383,4383,4383,4383,4383,4383,9355,Stippling of the epiphysis of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_4383
4384,4384,4384,4384,4384,4384,4384,4384,5750,Lower-limb joint contracture,HPO,phenotype,PHENOTYPE_4384
4385,4385,4385,4385,4385,4385,4385,4385,5746,Osteosclerosis of the base of the skull,HPO,phenotype,PHENOTYPE_4385
4386,4386,4386,4386,4386,4386,4386,4386,11472,Abnormal small intestinal villus morphology,HPO,phenotype,PHENOTYPE_4386
4387,4387,4387,4387,4387,4387,4387,4387,11569,Cleft anterior mitral valve leaflet,HPO,phenotype,PHENOTYPE_4387
4388,4388,4388,4388,4388,4388,4388,4388,2287,Progressive alopecia,HPO,phenotype,PHENOTYPE_4388
4389,4389,4389,4389,4389,4389,4389,4389,2925,Elevated circulating thyroid-stimulating hormone concentration,HPO,phenotype,PHENOTYPE_4389
4390,4390,4390,4390,4390,4390,4390,4390,30727,Intracranial neurenteric cyst,HPO,phenotype,PHENOTYPE_4390
4391,4391,4391,4391,4391,4391,4391,4391,12406,Hypercitraturia,HPO,phenotype,PHENOTYPE_4391
4392,4392,4392,4392,4392,4392,4392,4392,430059,Bloodstream virus-specific antibody positivity,HPO,phenotype,PHENOTYPE_4392
4393,4393,4393,4393,4393,4393,4393,4393,33090,Increased aromatic amino acid level in urine,HPO,phenotype,PHENOTYPE_4393
4394,4394,4394,4394,4394,4394,4394,4394,5682,Talocalcaneal synostosis,HPO,phenotype,PHENOTYPE_4394
4395,4395,4395,4395,4395,4395,4395,4395,6000007,Salivary basal cell adenoma,HPO,phenotype,PHENOTYPE_4395
4396,4396,4396,4396,4396,4396,4396,4396,9004,Hypoplasia of the musculature,HPO,phenotype,PHENOTYPE_4396
4397,4397,4397,4397,4397,4397,4397,4397,3451,Increased rate of premature chromosome condensation,HPO,phenotype,PHENOTYPE_4397
4398,4398,4398,4398,4398,4398,4398,4398,4463,Absent brainstem auditory responses,HPO,phenotype,PHENOTYPE_4398
4399,4399,4399,4399,4399,4399,4399,4399,30242,Portal vein thrombosis,HPO,phenotype,PHENOTYPE_4399
4400,4400,4400,4400,4400,4400,4400,4400,50,Hypoplastic male external genitalia,HPO,phenotype,PHENOTYPE_4400
4401,4401,4401,4401,4401,4401,4401,4401,32342,Reduced forced expiratory volume in one second,HPO,phenotype,PHENOTYPE_4401
4402,4402,4402,4402,4402,4402,4402,4402,3457,EMG abnormality,HPO,phenotype,PHENOTYPE_4402
4403,4403,4403,4403,4403,4403,4403,4403,1747,Accessory spleen,HPO,phenotype,PHENOTYPE_4403
4404,4404,4404,4404,4404,4404,4404,4404,8236,Isosexual precocious puberty,HPO,phenotype,PHENOTYPE_4404
4405,4405,4405,4405,4405,4405,4405,4405,30042,Incomplete ossification of pubis,HPO,phenotype,PHENOTYPE_4405
4406,4406,4406,4406,4406,4406,4406,4406,10020,Irregular epiphysis of the 1st metacarpal,HPO,phenotype,PHENOTYPE_4406
4407,4407,4407,4407,4407,4407,4407,4407,3933,Sclerosis of humeral diaphysis,HPO,phenotype,PHENOTYPE_4407
4408,4408,4408,4408,4408,4408,4408,4408,33900,Renal arteriole intima/media amyloidosis,HPO,phenotype,PHENOTYPE_4408
4409,4409,4409,4409,4409,4409,4409,4409,6001075,Exacerbated by exposure to sunlight,HPO,phenotype,PHENOTYPE_4409
4410,4410,4410,4410,4410,4410,4410,4410,32839,Bilateral symmetric neonatal sequential seizure,HPO,phenotype,PHENOTYPE_4410
4411,4411,4411,4411,4411,4411,4411,4411,410147,Eosinophilic infiltration in the stomach mucosa,HPO,phenotype,PHENOTYPE_4411
4412,4412,4412,4412,4412,4412,4412,4412,100092,Abnormality of the epiphysis of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_4412
4413,4413,4413,4413,4413,4413,4413,4413,33952,Abnormal cortical radial artery endothelium morphology,HPO,phenotype,PHENOTYPE_4413
4414,4414,4414,4414,4414,4414,4414,4414,5200051,Excessive hand washing,HPO,phenotype,PHENOTYPE_4414
4415,4415,4415,4415,4415,4415,4415,4415,3720,Generalized muscle hypertrophy,HPO,phenotype,PHENOTYPE_4415
4416,4416,4416,4416,4416,4416,4416,4416,3918,Sclerotic humeral metaphysis,HPO,phenotype,PHENOTYPE_4416
4417,4417,4417,4417,4417,4417,4417,4417,10170,Small epiphyses of the toes,HPO,phenotype,PHENOTYPE_4417
4418,4418,4418,4418,4418,4418,4418,4418,7204,Diffuse white matter abnormalities,HPO,phenotype,PHENOTYPE_4418
4419,4419,4419,4419,4419,4419,4419,4419,283,Broad face,HPO,phenotype,PHENOTYPE_4419
4420,4420,4420,4420,4420,4420,4420,4420,6000775,Elevated urinary 4-tyramine level,HPO,phenotype,PHENOTYPE_4420
4421,4421,4421,4421,4421,4421,4421,4421,10584,Pseudoepiphyses,HPO,phenotype,PHENOTYPE_4421
4422,4422,4422,4422,4422,4422,4422,4422,5200287,Nightmare disorder,HPO,phenotype,PHENOTYPE_4422
4423,4423,4423,4423,4423,4423,4423,4423,100912,Sclerosis of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_4423
4424,4424,4424,4424,4424,4424,4424,4424,34089,Anti-B23 antibody positivity,HPO,phenotype,PHENOTYPE_4424
4425,4425,4425,4425,4425,4425,4425,4425,6000147,Elevated methylhex-dienedioic level by MRS,HPO,phenotype,PHENOTYPE_4425
4426,4426,4426,4426,4426,4426,4426,4426,11867,Abnormal iliac wing morphology,HPO,phenotype,PHENOTYPE_4426
4427,4427,4427,4427,4427,4427,4427,4427,225,Gingival bleeding,HPO,phenotype,PHENOTYPE_4427
4428,4428,4428,4428,4428,4428,4428,4428,3649,Abnormal glycosidase enzyme activity,HPO,phenotype,PHENOTYPE_4428
4429,4429,4429,4429,4429,4429,4429,4429,100071,Irregular epiphyses of the 4th toe,HPO,phenotype,PHENOTYPE_4429
4430,4430,4430,4430,4430,4430,4430,4430,3137,Prolinuria,HPO,phenotype,PHENOTYPE_4430
4431,4431,4431,4431,4431,4431,4431,4431,40231,Abnormal onset of bleeding,HPO,phenotype,PHENOTYPE_4431
4432,4432,4432,4432,4432,4432,4432,4432,6000868,Toe hyperphalangy,HPO,phenotype,PHENOTYPE_4432
4433,4433,4433,4433,4433,4433,4433,4433,33465,Elevated circulating tetradecanoylcarnitine concentration,HPO,phenotype,PHENOTYPE_4433
4434,4434,4434,4434,4434,4434,4434,4434,7707,Congenital aphakia,HPO,phenotype,PHENOTYPE_4434
4435,4435,4435,4435,4435,4435,4435,4435,20212,Reading-induced seizure,HPO,phenotype,PHENOTYPE_4435
4436,4436,4436,4436,4436,4436,4436,4436,100162,Irregular epiphysis of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_4436
4437,4437,4437,4437,4437,4437,4437,4437,10165,Enlarged epiphyses of the toes,HPO,phenotype,PHENOTYPE_4437
4438,4438,4438,4438,4438,4438,4438,4438,11760,Pituitary growth hormone cell adenoma,HPO,phenotype,PHENOTYPE_4438
4439,4439,4439,4439,4439,4439,4439,4439,32545,Abdominal rigidity,HPO,phenotype,PHENOTYPE_4439
4440,4440,4440,4440,4440,4440,4440,4440,2640,Hypertension associated with pheochromocytoma,HPO,phenotype,PHENOTYPE_4440
4441,4441,4441,4441,4441,4441,4441,4441,34022,Anti-HLA-B antibody positivity,HPO,phenotype,PHENOTYPE_4441
4442,4442,4442,4442,4442,4442,4442,4442,8365,Abnormal talus morphology,HPO,phenotype,PHENOTYPE_4442
4443,4443,4443,4443,4443,4443,4443,4443,1399,Hepatic failure,HPO,phenotype,PHENOTYPE_4443
4444,4444,4444,4444,4444,4444,4444,4444,100614,Myositis,HPO,phenotype,PHENOTYPE_4444
4445,4445,4445,4445,4445,4445,4445,4445,31720,Simulated distance exotropia,HPO,phenotype,PHENOTYPE_4445
4446,4446,4446,4446,4446,4446,4446,4446,34871,Decreased urinary epinephrine level,HPO,phenotype,PHENOTYPE_4446
4447,4447,4447,4447,4447,4447,4447,4447,41042,Absent neutrophil lactoferrin,HPO,phenotype,PHENOTYPE_4447
4448,4448,4448,4448,4448,4448,4448,4448,12283,Small distal femoral epiphysis,HPO,phenotype,PHENOTYPE_4448
4449,4449,4449,4449,4449,4449,4449,4449,4447,Poikilocytosis,HPO,phenotype,PHENOTYPE_4449
4450,4450,4450,4450,4450,4450,4450,4450,31246,Nonproductive cough,HPO,phenotype,PHENOTYPE_4450
4451,4451,4451,4451,4451,4451,4451,4451,33678,Acute coronary syndrome,HPO,phenotype,PHENOTYPE_4451
4452,4452,4452,4452,4452,4452,4452,4452,30431,Osteochondroma,HPO,phenotype,PHENOTYPE_4452
4453,4453,4453,4453,4453,4453,4453,4453,33308,Patellar overgrowth,HPO,phenotype,PHENOTYPE_4453
4454,4454,4454,4454,4454,4454,4454,4454,34692,Elongated mitochondria,HPO,phenotype,PHENOTYPE_4454
4455,4455,4455,4455,4455,4455,4455,4455,10997,Chromosomal breakage induced by ionizing radiation,HPO,phenotype,PHENOTYPE_4455
4456,4456,4456,4456,4456,4456,4456,4456,5802,Coalescence of tarsal bones,HPO,phenotype,PHENOTYPE_4456
4457,4457,4457,4457,4457,4457,4457,4457,6858,Impaired distal proprioception,HPO,phenotype,PHENOTYPE_4457
4458,4458,4458,4458,4458,4458,4458,4458,7363,Aplasia/Hypoplasia of the pyramidal tract,HPO,phenotype,PHENOTYPE_4458
4459,4459,4459,4459,4459,4459,4459,4459,34473,Increased fecal heptacarboxylporphyrin,HPO,phenotype,PHENOTYPE_4459
4460,4460,4460,4460,4460,4460,4460,4460,34947,Altered location of the longitudinal column in the fibrous sheath,HPO,phenotype,PHENOTYPE_4460
4461,4461,4461,4461,4461,4461,4461,4461,100892,Abnormality of the xiphoid process,HPO,phenotype,PHENOTYPE_4461
4462,4462,4462,4462,4462,4462,4462,4462,6000607,Elevated urinary 3-hydroxyisobutyric acid level,HPO,phenotype,PHENOTYPE_4462
4463,4463,4463,4463,4463,4463,4463,4463,33113,Gallop rhythm,HPO,phenotype,PHENOTYPE_4463
4464,4464,4464,4464,4464,4464,4464,4464,3892,Absent humeral epiphyseal ossification,HPO,phenotype,PHENOTYPE_4464
4465,4465,4465,4465,4465,4465,4465,4465,5211,Midgut malrotation,HPO,phenotype,PHENOTYPE_4465
4466,4466,4466,4466,4466,4466,4466,4466,9528,Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_4466
4467,4467,4467,4467,4467,4467,4467,4467,33961,Cortical radial artery intima/media multilamellation,HPO,phenotype,PHENOTYPE_4467
4468,4468,4468,4468,4468,4468,4468,4468,136,Bifid uterus,HPO,phenotype,PHENOTYPE_4468
4469,4469,4469,4469,4469,4469,4469,4469,8631,Ureteral dysgenesis,HPO,phenotype,PHENOTYPE_4469
4470,4470,4470,4470,4470,4470,4470,4470,33387,Elevated circulating pyridinoline concentration,HPO,phenotype,PHENOTYPE_4470
4471,4471,4471,4471,4471,4471,4471,4471,2683,Abnormal calvaria morphology,HPO,phenotype,PHENOTYPE_4471
4472,4472,4472,4472,4472,4472,4472,4472,33531,Decreased cardiac index,HPO,phenotype,PHENOTYPE_4472
4473,4473,4473,4473,4473,4473,4473,4473,3913,Humeral metaphyseal irregularity,HPO,phenotype,PHENOTYPE_4473
4474,4474,4474,4474,4474,4474,4474,4474,32116,Macrosquare-wave jerks,HPO,phenotype,PHENOTYPE_4474
4475,4475,4475,4475,4475,4475,4475,4475,5201003,Complete cleft hard palate,HPO,phenotype,PHENOTYPE_4475
4476,4476,4476,4476,4476,4476,4476,4476,8872,Feeding difficulties in infancy,HPO,phenotype,PHENOTYPE_4476
4477,4477,4477,4477,4477,4477,4477,4477,10038,Short 2nd metacarpal,HPO,phenotype,PHENOTYPE_4477
4478,4478,4478,4478,4478,4478,4478,4478,31461,Intramuscular Myxoma,HPO,phenotype,PHENOTYPE_4478
4479,4479,4479,4479,4479,4479,4479,4479,11337,Abnormality of mouth size,HPO,phenotype,PHENOTYPE_4479
4480,4480,4480,4480,4480,4480,4480,4480,12409,Cortical nephrocalcinosis,HPO,phenotype,PHENOTYPE_4480
4481,4481,4481,4481,4481,4481,4481,4481,12191,B-cell lymphoma,HPO,phenotype,PHENOTYPE_4481
4482,4482,4482,4482,4482,4482,4482,4482,31990,Chvostek sign,HPO,phenotype,PHENOTYPE_4482
4483,4483,4483,4483,4483,4483,4483,4483,12441,Sphincter of Oddi dyskinesia,HPO,phenotype,PHENOTYPE_4483
4484,4484,4484,4484,4484,4484,4484,4484,5200113,Failure to offer information to initiate social interaction,HPO,phenotype,PHENOTYPE_4484
4485,4485,4485,4485,4485,4485,4485,4485,33445,Reduced circulating acylcarnitine concentration,HPO,phenotype,PHENOTYPE_4485
4486,4486,4486,4486,4486,4486,4486,4486,12804,Corneal ulceration,HPO,phenotype,PHENOTYPE_4486
4487,4487,4487,4487,4487,4487,4487,4487,25310,Oval pupil,HPO,phenotype,PHENOTYPE_4487
4488,4488,4488,4488,4488,4488,4488,4488,7367,Atrophy/Degeneration affecting the central nervous system,HPO,phenotype,PHENOTYPE_4488
4489,4489,4489,4489,4489,4489,4489,4489,8194,Multiple pancreatic beta-cell adenomas,HPO,phenotype,PHENOTYPE_4489
4490,4490,4490,4490,4490,4490,4490,4490,34654,Elevated urine octanoic acid level,HPO,phenotype,PHENOTYPE_4490
4491,4491,4491,4491,4491,4491,4491,4491,10280,Stomatitis,HPO,phenotype,PHENOTYPE_4491
4492,4492,4492,4492,4492,4492,4492,4492,5066,Cone-shaped epiphyses fused within their metaphyses,HPO,phenotype,PHENOTYPE_4492
4493,4493,4493,4493,4493,4493,4493,4493,30977,Increased factor VIII activity,HPO,phenotype,PHENOTYPE_4493
4494,4494,4494,4494,4494,4494,4494,4494,1176,Large hands,HPO,phenotype,PHENOTYPE_4494
4495,4495,4495,4495,4495,4495,4495,4495,6693,Myocardial steatosis,HPO,phenotype,PHENOTYPE_4495
4496,4496,4496,4496,4496,4496,4496,4496,2635,Type IV atherosclerotic lesion,HPO,phenotype,PHENOTYPE_4496
4497,4497,4497,4497,4497,4497,4497,4497,1039,Atheroeruptive xanthoma,HPO,phenotype,PHENOTYPE_4497
4498,4498,4498,4498,4498,4498,4498,4498,25152,Poor visual behavior for age,HPO,phenotype,PHENOTYPE_4498
4499,4499,4499,4499,4499,4499,4499,4499,6000699,Aggravated by menstruation,HPO,phenotype,PHENOTYPE_4499
4500,4500,4500,4500,4500,4500,4500,4500,7818,Central heterochromia,HPO,phenotype,PHENOTYPE_4500
4501,4501,4501,4501,4501,4501,4501,4501,11988,Ectopic ossification in tendon tissue,HPO,phenotype,PHENOTYPE_4501
4502,4502,4502,4502,4502,4502,4502,4502,32853,Focal impaired awareness sensory seizure with hot-cold sensations,HPO,phenotype,PHENOTYPE_4502
4503,4503,4503,4503,4503,4503,4503,4503,410383,"Abnormal proportion of effector memory CD8-positive, alpha-beta T cells",HPO,phenotype,PHENOTYPE_4503
4504,4504,4504,4504,4504,4504,4504,4504,40295,Duplication of the upper lip,HPO,phenotype,PHENOTYPE_4504
4505,4505,4505,4505,4505,4505,4505,4505,2529,Neuronal loss in central nervous system,HPO,phenotype,PHENOTYPE_4505
4506,4506,4506,4506,4506,4506,4506,4506,410261,Wide space between 4th and 5th toe,HPO,phenotype,PHENOTYPE_4506
4507,4507,4507,4507,4507,4507,4507,4507,3371,Enlargement of the proximal femoral epiphysis,HPO,phenotype,PHENOTYPE_4507
4508,4508,4508,4508,4508,4508,4508,4508,9170,Osteolytic defects of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_4508
4509,4509,4509,4509,4509,4509,4509,4509,12772,Abnormal upper to lower segment ratio,HPO,phenotype,PHENOTYPE_4509
4510,4510,4510,4510,4510,4510,4510,4510,100557,Hemiatrophy of lower limb,HPO,phenotype,PHENOTYPE_4510
4511,4511,4511,4511,4511,4511,4511,4511,1750,Single ventricle,HPO,phenotype,PHENOTYPE_4511
4512,4512,4512,4512,4512,4512,4512,4512,6827,Atrophy of the spinal cord,HPO,phenotype,PHENOTYPE_4512
4513,4513,4513,4513,4513,4513,4513,4513,25443,Abnormal cardiac atrial physiology,HPO,phenotype,PHENOTYPE_4513
4514,4514,4514,4514,4514,4514,4514,4514,31668,Diastolic heart murmur,HPO,phenotype,PHENOTYPE_4514
4515,4515,4515,4515,4515,4515,4515,4515,31768,Parafoveal fixation,HPO,phenotype,PHENOTYPE_4515
4516,4516,4516,4516,4516,4516,4516,4516,1958,Nonketotic hypoglycemia,HPO,phenotype,PHENOTYPE_4516
4517,4517,4517,4517,4517,4517,4517,4517,34446,Elevated circulating histamine concentration,HPO,phenotype,PHENOTYPE_4517
4518,4518,4518,4518,4518,4518,4518,4518,32249,Coccidioidomycosis,HPO,phenotype,PHENOTYPE_4518
4519,4519,4519,4519,4519,4519,4519,4519,30079,Cervix cancer,HPO,phenotype,PHENOTYPE_4519
4520,4520,4520,4520,4520,4520,4520,4520,12663,Mildly reduced left ventricular ejection fraction,HPO,phenotype,PHENOTYPE_4520
4521,4521,4521,4521,4521,4521,4521,4521,118,Phenotypic abnormality,HPO,phenotype,PHENOTYPE_4521
4522,4522,4522,4522,4522,4522,4522,4522,33366,Exogenous lipoid pneumonia,HPO,phenotype,PHENOTYPE_4522
4523,4523,4523,4523,4523,4523,4523,4523,25555,Periungual teleangiectasia,HPO,phenotype,PHENOTYPE_4523
4524,4524,4524,4524,4524,4524,4524,4524,33589,Flatulence,HPO,phenotype,PHENOTYPE_4524
4525,4525,4525,4525,4525,4525,4525,4525,5200035,Reduced cooperative imaginative play,HPO,phenotype,PHENOTYPE_4525
4526,4526,4526,4526,4526,4526,4526,4526,25756,Abnormal nail attachment,HPO,phenotype,PHENOTYPE_4526
4527,4527,4527,4527,4527,4527,4527,4527,12726,Episodic hypokalemia,HPO,phenotype,PHENOTYPE_4527
4528,4528,4528,4528,4528,4528,4528,4528,5000018,Anti-ITPR1 antibody,HPO,phenotype,PHENOTYPE_4528
4529,4529,4529,4529,4529,4529,4529,4529,34065,Anti-Zinc transporter 8 antibody positivity,HPO,phenotype,PHENOTYPE_4529
4530,4530,4530,4530,4530,4530,4530,4530,5201014,Asymmetric bilateral cleft lip,HPO,phenotype,PHENOTYPE_4530
4531,4531,4531,4531,4531,4531,4531,4531,33843,Postprandial fullness,HPO,phenotype,PHENOTYPE_4531
4532,4532,4532,4532,4532,4532,4532,4532,10999,Aplasia of the optic tract,HPO,phenotype,PHENOTYPE_4532
4533,4533,4533,4533,4533,4533,4533,4533,12507,Weakness of orbicularis oculi muscle,HPO,phenotype,PHENOTYPE_4533
4534,4534,4534,4534,4534,4534,4534,4534,10226,Abnormal 5th metacarpal epiphysis morphology,HPO,phenotype,PHENOTYPE_4534
4535,4535,4535,4535,4535,4535,4535,4535,34201,Increased CSF homovanillic acid concentration,HPO,phenotype,PHENOTYPE_4535
4536,4536,4536,4536,4536,4536,4536,4536,4359,Abnormal circulating fatty-acid concentration,HPO,phenotype,PHENOTYPE_4536
4537,4537,4537,4537,4537,4537,4537,4537,1371,Flexion contracture,HPO,phenotype,PHENOTYPE_4537
4538,4538,4538,4538,4538,4538,4538,4538,3637,Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity,HPO,phenotype,PHENOTYPE_4538
4539,4539,4539,4539,4539,4539,4539,4539,30125,Sacralization of the fifth lumbar vertebra,HPO,phenotype,PHENOTYPE_4539
4540,4540,4540,4540,4540,4540,4540,4540,12715,Profound hearing impairment,HPO,phenotype,PHENOTYPE_4540
4541,4541,4541,4541,4541,4541,4541,4541,32515,Deep dermatophytosis,HPO,phenotype,PHENOTYPE_4541
4542,4542,4542,4542,4542,4542,4542,4542,11221,Vertical forehead creases,HPO,phenotype,PHENOTYPE_4542
4543,4543,4543,4543,4543,4543,4543,4543,34663,Elevated urine 4-hydroxyisovaleric acid level,HPO,phenotype,PHENOTYPE_4543
4544,4544,4544,4544,4544,4544,4544,4544,12480,Abnormal cerebral vein morphology,HPO,phenotype,PHENOTYPE_4544
4545,4545,4545,4545,4545,4545,4545,4545,6001149,Positive hook test at the elbow,HPO,phenotype,PHENOTYPE_4545
4546,4546,4546,4546,4546,4546,4546,4546,11839,Abnormal T cell count,HPO,phenotype,PHENOTYPE_4546
4547,4547,4547,4547,4547,4547,4547,4547,9777,Absent thumb,HPO,phenotype,PHENOTYPE_4547
4548,4548,4548,4548,4548,4548,4548,4548,40219,Absent natural killer cells,HPO,phenotype,PHENOTYPE_4548
4549,4549,4549,4549,4549,4549,4549,4549,12128,Basal ganglia necrosis,HPO,phenotype,PHENOTYPE_4549
4550,4550,4550,4550,4550,4550,4550,4550,33564,Stasis dermatitis,HPO,phenotype,PHENOTYPE_4550
4551,4551,4551,4551,4551,4551,4551,4551,2069,Bilateral tonic-clonic seizure,HPO,phenotype,PHENOTYPE_4551
4552,4552,4552,4552,4552,4552,4552,4552,9550,Osteolytic defects of the phalanges of the 2nd finger,HPO,phenotype,PHENOTYPE_4552
4553,4553,4553,4553,4553,4553,4553,4553,500101,Gastric fluid xenobiotic,HPO,phenotype,PHENOTYPE_4553
4554,4554,4554,4554,4554,4554,4554,4554,30673,Erosive vitreoretinopathy,HPO,phenotype,PHENOTYPE_4554
4555,4555,4555,4555,4555,4555,4555,4555,7515,Hypoplastic pilosebaceous units,HPO,phenotype,PHENOTYPE_4555
4556,4556,4556,4556,4556,4556,4556,4556,20084,Carbuncle,HPO,phenotype,PHENOTYPE_4556
4557,4557,4557,4557,4557,4557,4557,4557,500197,Increased CSF glutamine concentration,HPO,phenotype,PHENOTYPE_4557
4558,4558,4558,4558,4558,4558,4558,4558,6001105,Positive probe-to-bone test,HPO,phenotype,PHENOTYPE_4558
4559,4559,4559,4559,4559,4559,4559,4559,5486,Small fontanelle,HPO,phenotype,PHENOTYPE_4559
4560,4560,4560,4560,4560,4560,4560,4560,30381,Increased proportion of transitional B cells,HPO,phenotype,PHENOTYPE_4560
4561,4561,4561,4561,4561,4561,4561,4561,12136,Dysplastic granulopoesis,HPO,phenotype,PHENOTYPE_4561
4562,4562,4562,4562,4562,4562,4562,4562,1120,Abnormality of corneal size,HPO,phenotype,PHENOTYPE_4562
4563,4563,4563,4563,4563,4563,4563,4563,4000131,Ameliorated by vitamin D,HPO,phenotype,PHENOTYPE_4563
4564,4564,4564,4564,4564,4564,4564,4564,6000381,Splenic calcification,HPO,phenotype,PHENOTYPE_4564
4565,4565,4565,4565,4565,4565,4565,4565,34386,Reduced left ventricular endsystolic diameter,HPO,phenotype,PHENOTYPE_4565
4566,4566,4566,4566,4566,4566,4566,4566,888,Horizontal ribs,HPO,phenotype,PHENOTYPE_4566
4567,4567,4567,4567,4567,4567,4567,4567,5990,Thyroid hypoplasia,HPO,phenotype,PHENOTYPE_4567
4568,4568,4568,4568,4568,4568,4568,4568,4796,Gastrointestinal obstruction,HPO,phenotype,PHENOTYPE_4568
4569,4569,4569,4569,4569,4569,4569,4569,25077,Decreased QRS voltage,HPO,phenotype,PHENOTYPE_4569
4570,4570,4570,4570,4570,4570,4570,4570,9544,Abnormality of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_4570
4571,4571,4571,4571,4571,4571,4571,4571,10861,Incomplete breech presentation,HPO,phenotype,PHENOTYPE_4571
4572,4572,4572,4572,4572,4572,4572,4572,40202,Abnormal consumption behavior,HPO,phenotype,PHENOTYPE_4572
4573,4573,4573,4573,4573,4573,4573,4573,9500,Abnormality of the epiphysis of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_4573
4574,4574,4574,4574,4574,4574,4574,4574,10484,Hypertrophy of the upper limb,HPO,phenotype,PHENOTYPE_4574
4575,4575,4575,4575,4575,4575,4575,4575,100218,Irregular epiphysis of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_4575
4576,4576,4576,4576,4576,4576,4576,4576,34864,Decreased alpha-galactosidase A activity,HPO,phenotype,PHENOTYPE_4576
4577,4577,4577,4577,4577,4577,4577,4577,9848,Patchy sclerosis of middle phalanx of finger,HPO,phenotype,PHENOTYPE_4577
4578,4578,4578,4578,4578,4578,4578,4578,105,Enlarged kidney,HPO,phenotype,PHENOTYPE_4578
4579,4579,4579,4579,4579,4579,4579,4579,410016,Abnormal cranial ganglion morphology,HPO,phenotype,PHENOTYPE_4579
4580,4580,4580,4580,4580,4580,4580,4580,34970,Urinary bladder hamartoma,HPO,phenotype,PHENOTYPE_4580
4581,4581,4581,4581,4581,4581,4581,4581,33997,Perinuclear cardiomyocyte vacuolization,HPO,phenotype,PHENOTYPE_4581
4582,4582,4582,4582,4582,4582,4582,4582,11785,Thyrotoxicosis with toxic multinodular goiter,HPO,phenotype,PHENOTYPE_4582
4583,4583,4583,4583,4583,4583,4583,4583,25616,Sterile abscess,HPO,phenotype,PHENOTYPE_4583
4584,4584,4584,4584,4584,4584,4584,4584,6000063,Hepatolithiasis,HPO,phenotype,PHENOTYPE_4584
4585,4585,4585,4585,4585,4585,4585,4585,35009,Shoulder adduction contracture,HPO,phenotype,PHENOTYPE_4585
4586,4586,4586,4586,4586,4586,4586,4586,7366,Atrophy/Degeneration affecting the brainstem,HPO,phenotype,PHENOTYPE_4586
4587,4587,4587,4587,4587,4587,4587,4587,12214,Increased glomerular filtration rate,HPO,phenotype,PHENOTYPE_4587
4588,4588,4588,4588,4588,4588,4588,4588,410319,Alpha-gal allergy,HPO,phenotype,PHENOTYPE_4588
4589,4589,4589,4589,4589,4589,4589,4589,12431,Episodic fatigue,HPO,phenotype,PHENOTYPE_4589
4590,4590,4590,4590,4590,4590,4590,4590,34392,Joint contracture,HPO,phenotype,PHENOTYPE_4590
4591,4591,4591,4591,4591,4591,4591,4591,30899,Pruritis on hand,HPO,phenotype,PHENOTYPE_4591
4592,4592,4592,4592,4592,4592,4592,4592,41243,Fractured proximal finger phalanx,HPO,phenotype,PHENOTYPE_4592
4593,4593,4593,4593,4593,4593,4593,4593,841,Hyperactive renin-angiotensin system,HPO,phenotype,PHENOTYPE_4593
4594,4594,4594,4594,4594,4594,4594,4594,12648,Decreased inflammatory response,HPO,phenotype,PHENOTYPE_4594
4595,4595,4595,4595,4595,4595,4595,4595,6000720,Reduced tissue fatty aldehyde dehydrogenase activity,HPO,phenotype,PHENOTYPE_4595
4596,4596,4596,4596,4596,4596,4596,4596,3059,Abnormality of the radioulnar joints,HPO,phenotype,PHENOTYPE_4596
4597,4597,4597,4597,4597,4597,4597,4597,6649,Costochondral pain,HPO,phenotype,PHENOTYPE_4597
4598,4598,4598,4598,4598,4598,4598,4598,7410,Palmoplantar hyperhidrosis,HPO,phenotype,PHENOTYPE_4598
4599,4599,4599,4599,4599,4599,4599,4599,30680,Abnormal cardiovascular system morphology,HPO,phenotype,PHENOTYPE_4599
4600,4600,4600,4600,4600,4600,4600,4600,5435,Impaired T cell function,HPO,phenotype,PHENOTYPE_4600
4601,4601,4601,4601,4601,4601,4601,4601,6000234,Elevated circulating dihydroxyphenylacetic acid concentration,HPO,phenotype,PHENOTYPE_4601
4602,4602,4602,4602,4602,4602,4602,4602,7836,Mosaic corneal dystrophy,HPO,phenotype,PHENOTYPE_4602
4603,4603,4603,4603,4603,4603,4603,4603,12092,Abnormality of exocrine pancreas physiology,HPO,phenotype,PHENOTYPE_4603
4604,4604,4604,4604,4604,4604,4604,4604,9846,Curved middle phalanges of the hand,HPO,phenotype,PHENOTYPE_4604
4605,4605,4605,4605,4605,4605,4605,4605,6505,Abnormal limb epiphysis morphology,HPO,phenotype,PHENOTYPE_4605
4606,4606,4606,4606,4606,4606,4606,4606,25392,Nodular pattern on pulmonary HRCT,HPO,phenotype,PHENOTYPE_4606
4607,4607,4607,4607,4607,4607,4607,4607,30965,Aortic stiffness,HPO,phenotype,PHENOTYPE_4607
4608,4608,4608,4608,4608,4608,4608,4608,2299,Brittle hair,HPO,phenotype,PHENOTYPE_4608
4609,4609,4609,4609,4609,4609,4609,4609,7199,Progressive spastic paraparesis,HPO,phenotype,PHENOTYPE_4609
4610,4610,4610,4610,4610,4610,4610,4610,12200,Abnormality of prothrombin,HPO,phenotype,PHENOTYPE_4610
4611,4611,4611,4611,4611,4611,4611,4611,11064,Abnormal number of incisors,HPO,phenotype,PHENOTYPE_4611
4612,4612,4612,4612,4612,4612,4612,4612,34369,Decreased level of coenzyme Q10 in skeletal muscle,HPO,phenotype,PHENOTYPE_4612
4613,4613,4613,4613,4613,4613,4613,4613,6000797,Positive bloodstream rapid plasma reagin test,HPO,phenotype,PHENOTYPE_4613
4614,4614,4614,4614,4614,4614,4614,4614,100111,Absent epiphysis of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_4614
4615,4615,4615,4615,4615,4615,4615,4615,3577,Congenital onset,HPO,phenotype,PHENOTYPE_4615
4616,4616,4616,4616,4616,4616,4616,4616,25071,U wave inversion,HPO,phenotype,PHENOTYPE_4616
4617,4617,4617,4617,4617,4617,4617,4617,31074,Abnormal response to ACTH stimulation test,HPO,phenotype,PHENOTYPE_4617
4618,4618,4618,4618,4618,4618,4618,4618,12822,Bilateral vocal cord paresis,HPO,phenotype,PHENOTYPE_4618
4619,4619,4619,4619,4619,4619,4619,4619,10948,Abnormal fetal cardiovascular morphology,HPO,phenotype,PHENOTYPE_4619
4620,4620,4620,4620,4620,4620,4620,4620,34443,Reduced circulating erythropoietin concentration,HPO,phenotype,PHENOTYPE_4620
4621,4621,4621,4621,4621,4621,4621,4621,10734,Fibrous dysplasia of the bones,HPO,phenotype,PHENOTYPE_4621
4622,4622,4622,4622,4622,4622,4622,4622,7957,Corneal opacity,HPO,phenotype,PHENOTYPE_4622
4623,4623,4623,4623,4623,4623,4623,4623,1770,Toe syndactyly,HPO,phenotype,PHENOTYPE_4623
4624,4624,4624,4624,4624,4624,4624,4624,494,Downslanted palpebral fissures,HPO,phenotype,PHENOTYPE_4624
4625,4625,4625,4625,4625,4625,4625,4625,10134,Pseudoepiphysis of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_4625
4626,4626,4626,4626,4626,4626,4626,4626,30791,Abnormal jaw morphology,HPO,phenotype,PHENOTYPE_4626
4627,4627,4627,4627,4627,4627,4627,4627,6413,Broad tibial metaphyses,HPO,phenotype,PHENOTYPE_4627
4628,4628,4628,4628,4628,4628,4628,4628,33389,Bronchopulmonary anastomosis,HPO,phenotype,PHENOTYPE_4628
4629,4629,4629,4629,4629,4629,4629,4629,25800,Wrist instability,HPO,phenotype,PHENOTYPE_4629
4630,4630,4630,4630,4630,4630,4630,4630,11153,Focal motor seizure,HPO,phenotype,PHENOTYPE_4630
4631,4631,4631,4631,4631,4631,4631,4631,8046,Abnormal retinal vascular morphology,HPO,phenotype,PHENOTYPE_4631
4632,4632,4632,4632,4632,4632,4632,4632,6316,Irregularly spaced teeth,HPO,phenotype,PHENOTYPE_4632
4633,4633,4633,4633,4633,4633,4633,4633,10146,Small epiphysis of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_4633
4634,4634,4634,4634,4634,4634,4634,4634,9454,Patchy sclerosis of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_4634
4635,4635,4635,4635,4635,4635,4635,4635,30887,Increased lymphocyte apoptosis,HPO,phenotype,PHENOTYPE_4635
4636,4636,4636,4636,4636,4636,4636,4636,12293,Abnormal genital pigmentation,HPO,phenotype,PHENOTYPE_4636
4637,4637,4637,4637,4637,4637,4637,4637,10733,Naevus flammeus of the eyelid,HPO,phenotype,PHENOTYPE_4637
4638,4638,4638,4638,4638,4638,4638,4638,100188,Small epiphysis of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_4638
4639,4639,4639,4639,4639,4639,4639,4639,5000002,Anti-Amphiphysin antibody,HPO,phenotype,PHENOTYPE_4639
4640,4640,4640,4640,4640,4640,4640,4640,6000748,Decreased urinary creatine level,HPO,phenotype,PHENOTYPE_4640
4641,4641,4641,4641,4641,4641,4641,4641,100679,Lack of skin elasticity,HPO,phenotype,PHENOTYPE_4641
4642,4642,4642,4642,4642,4642,4642,4642,10122,Stippling of the epiphyses of the hallux,HPO,phenotype,PHENOTYPE_4642
4643,4643,4643,4643,4643,4643,4643,4643,100335,Non-midline cleft of the upper lip,HPO,phenotype,PHENOTYPE_4643
4644,4644,4644,4644,4644,4644,4644,4644,34718,Vacuolated hepatocytes,HPO,phenotype,PHENOTYPE_4644
4645,4645,4645,4645,4645,4645,4645,4645,12497,Reduced maximal expiratory pressure,HPO,phenotype,PHENOTYPE_4645
4646,4646,4646,4646,4646,4646,4646,4646,30398,Abnormal platelet ATP dense granule secretion,HPO,phenotype,PHENOTYPE_4646
4647,4647,4647,4647,4647,4647,4647,4647,30533,Abnormal unaided visual acuity test,HPO,phenotype,PHENOTYPE_4647
4648,4648,4648,4648,4648,4648,4648,4648,33584,Nonspecific interstitial pneumonia,HPO,phenotype,PHENOTYPE_4648
4649,4649,4649,4649,4649,4649,4649,4649,7153,Progressive extrapyramidal movement disorder,HPO,phenotype,PHENOTYPE_4649
4650,4650,4650,4650,4650,4650,4650,4650,6000094,History of outdoor activities,HPO,phenotype,PHENOTYPE_4650
4651,4651,4651,4651,4651,4651,4651,4651,8462,Cervical instability,HPO,phenotype,PHENOTYPE_4651
4652,4652,4652,4652,4652,4652,4652,4652,6000853,Thyroid cyst,HPO,phenotype,PHENOTYPE_4652
4653,4653,4653,4653,4653,4653,4653,4653,34551,Triggered by neuroleptic medication,HPO,phenotype,PHENOTYPE_4653
4654,4654,4654,4654,4654,4654,4654,4654,32584,Renal interstitial neutrophil infiltration,HPO,phenotype,PHENOTYPE_4654
4655,4655,4655,4655,4655,4655,4655,4655,9757,Intercrural pterygium,HPO,phenotype,PHENOTYPE_4655
4656,4656,4656,4656,4656,4656,4656,4656,9468,Deviation of the 2nd finger,HPO,phenotype,PHENOTYPE_4656
4657,4657,4657,4657,4657,4657,4657,4657,946,Hypoplastic ilia,HPO,phenotype,PHENOTYPE_4657
4658,4658,4658,4658,4658,4658,4658,4658,10230,Cone-shaped epiphyses of the phalanges of the hand,HPO,phenotype,PHENOTYPE_4658
4659,4659,4659,4659,4659,4659,4659,4659,9198,Abnormality of the epiphysis of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_4659
4660,4660,4660,4660,4660,4660,4660,4660,5234,Neonatal intestinal obstruction,HPO,phenotype,PHENOTYPE_4660
4661,4661,4661,4661,4661,4661,4661,4661,12217,Increased urinary porphobilinogen,HPO,phenotype,PHENOTYPE_4661
4662,4662,4662,4662,4662,4662,4662,4662,25171,Rosette-forming glioneuronal tumor,HPO,phenotype,PHENOTYPE_4662
4663,4663,4663,4663,4663,4663,4663,4663,10305,Absence of the sacrum,HPO,phenotype,PHENOTYPE_4663
4664,4664,4664,4664,4664,4664,4664,4664,303,Mandibular prognathia,HPO,phenotype,PHENOTYPE_4664
4665,4665,4665,4665,4665,4665,4665,4665,33947,Renal arteriole intima/media crystal accumulation,HPO,phenotype,PHENOTYPE_4665
4666,4666,4666,4666,4666,4666,4666,4666,9538,Contracture of the distal interphalangeal joint of the 2nd finger,HPO,phenotype,PHENOTYPE_4666
4667,4667,4667,4667,4667,4667,4667,4667,12145,Abnormality of multiple cell lineages in the bone marrow,HPO,phenotype,PHENOTYPE_4667
4668,4668,4668,4668,4668,4668,4668,4668,3339,Pyrimidine-responsive megaloblastic anemia,HPO,phenotype,PHENOTYPE_4668
4669,4669,4669,4669,4669,4669,4669,4669,6417,Wide femoral metaphysis,HPO,phenotype,PHENOTYPE_4669
4670,4670,4670,4670,4670,4670,4670,4670,12428,Prominent calcaneus,HPO,phenotype,PHENOTYPE_4670
4671,4671,4671,4671,4671,4671,4671,4671,389,Chronic otitis media,HPO,phenotype,PHENOTYPE_4671
4672,4672,4672,4672,4672,4672,4672,4672,34255,Colovesical fistula,HPO,phenotype,PHENOTYPE_4672
4673,4673,4673,4673,4673,4673,4673,4673,3859,Cortical diaphyseal thickening of the upper limbs,HPO,phenotype,PHENOTYPE_4673
4674,4674,4674,4674,4674,4674,4674,4674,11179,Beta-EEG,HPO,phenotype,PHENOTYPE_4674
4675,4675,4675,4675,4675,4675,4675,4675,30707,Unilateral lung agenesis,HPO,phenotype,PHENOTYPE_4675
4676,4676,4676,4676,4676,4676,4676,4676,10816,Epidermal nevus,HPO,phenotype,PHENOTYPE_4676
4677,4677,4677,4677,4677,4677,4677,4677,33428,Systemic autoinflammation,HPO,phenotype,PHENOTYPE_4677
4678,4678,4678,4678,4678,4678,4678,4678,8488,Anterior rounding of vertebral bodies,HPO,phenotype,PHENOTYPE_4678
4679,4679,4679,4679,4679,4679,4679,4679,32891,Focal aware motor seizure with version,HPO,phenotype,PHENOTYPE_4679
4680,4680,4680,4680,4680,4680,4680,4680,11431,Fetal fifth finger clinodactyly,HPO,phenotype,PHENOTYPE_4680
4681,4681,4681,4681,4681,4681,4681,4681,31248,Palmar pruritus,HPO,phenotype,PHENOTYPE_4681
4682,4682,4682,4682,4682,4682,4682,4682,100936,Sclerosis of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_4682
4683,4683,4683,4683,4683,4683,4683,4683,9589,Bilateral vestibular schwannoma,HPO,phenotype,PHENOTYPE_4683
4684,4684,4684,4684,4684,4684,4684,4684,500115,Increased stool urobilinogen concentration,HPO,phenotype,PHENOTYPE_4684
4685,4685,4685,4685,4685,4685,4685,4685,12778,Retinal astrocytic hamartoma,HPO,phenotype,PHENOTYPE_4685
4686,4686,4686,4686,4686,4686,4686,4686,500229,Abnormal CSF glycine concentration,HPO,phenotype,PHENOTYPE_4686
4687,4687,4687,4687,4687,4687,4687,4687,1900,Increased circulating hemoglobin concentration,HPO,phenotype,PHENOTYPE_4687
4688,4688,4688,4688,4688,4688,4688,4688,6539,Bronchial cartilage hypoplasia,HPO,phenotype,PHENOTYPE_4688
4689,4689,4689,4689,4689,4689,4689,4689,11751,Abnormal posterior pituitary morphogenesis,HPO,phenotype,PHENOTYPE_4689
4690,4690,4690,4690,4690,4690,4690,4690,31131,Abnormal platelet phosphatidylserine exposure,HPO,phenotype,PHENOTYPE_4690
4691,4691,4691,4691,4691,4691,4691,4691,25144,Shivering,HPO,phenotype,PHENOTYPE_4691
4692,4692,4692,4692,4692,4692,4692,4692,200041,Skin erosion,HPO,phenotype,PHENOTYPE_4692
4693,4693,4693,4693,4693,4693,4693,4693,3461,Increased urinary O-linked sialopeptides,HPO,phenotype,PHENOTYPE_4693
4694,4694,4694,4694,4694,4694,4694,4694,9975,Duplication of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_4694
4695,4695,4695,4695,4695,4695,4695,4695,11814,Increased urinary hypoxanthine level,HPO,phenotype,PHENOTYPE_4695
4696,4696,4696,4696,4696,4696,4696,4696,410028,Recurrent oral herpes,HPO,phenotype,PHENOTYPE_4696
4697,4697,4697,4697,4697,4697,4697,4697,31510,Linear earlobe crease,HPO,phenotype,PHENOTYPE_4697
4698,4698,4698,4698,4698,4698,4698,4698,12450,Chronic constipation,HPO,phenotype,PHENOTYPE_4698
4699,4699,4699,4699,4699,4699,4699,4699,4385,Protracted diarrhea,HPO,phenotype,PHENOTYPE_4699
4700,4700,4700,4700,4700,4700,4700,4700,31313,Abdominal aortic calcification,HPO,phenotype,PHENOTYPE_4700
4701,4701,4701,4701,4701,4701,4701,4701,4000003,Elevated myocardial native T2,HPO,phenotype,PHENOTYPE_4701
4702,4702,4702,4702,4702,4702,4702,4702,32595,Renal tubular epithelial cell detachment,HPO,phenotype,PHENOTYPE_4702
4703,4703,4703,4703,4703,4703,4703,4703,9672,Small epiphysis of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_4703
4704,4704,4704,4704,4704,4704,4704,4704,10129,Cone-shaped epiphysis of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_4704
4705,4705,4705,4705,4705,4705,4705,4705,100327,Cow milk allergy,HPO,phenotype,PHENOTYPE_4705
4706,4706,4706,4706,4706,4706,4706,4706,100462,Patchy sclerosis of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_4706
4707,4707,4707,4707,4707,4707,4707,4707,30868,Monorchism,HPO,phenotype,PHENOTYPE_4707
4708,4708,4708,4708,4708,4708,4708,4708,33728,Mesangial proliferative lupus nephritis,HPO,phenotype,PHENOTYPE_4708
4709,4709,4709,4709,4709,4709,4709,4709,9199,Irregular epiphysis of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_4709
4710,4710,4710,4710,4710,4710,4710,4710,32261,Nontuberculous mycobacterial pulmonary infection,HPO,phenotype,PHENOTYPE_4710
4711,4711,4711,4711,4711,4711,4711,4711,5200283,Sleep-related breathing disorders,HPO,phenotype,PHENOTYPE_4711
4712,4712,4712,4712,4712,4712,4712,4712,8151,Prolonged prothrombin time,HPO,phenotype,PHENOTYPE_4712
4713,4713,4713,4713,4713,4713,4713,4713,4000208,Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity,HPO,phenotype,PHENOTYPE_4713
4714,4714,4714,4714,4714,4714,4714,4714,9692,Ivory epiphysis of the thumb,HPO,phenotype,PHENOTYPE_4714
4715,4715,4715,4715,4715,4715,4715,4715,5200202,Abnormal interpretation of external stimuli,HPO,phenotype,PHENOTYPE_4715
4716,4716,4716,4716,4716,4716,4716,4716,3729,Enteroviral dermatomyositis syndrome,HPO,phenotype,PHENOTYPE_4716
4717,4717,4717,4717,4717,4717,4717,4717,6026,Rounded epiphyses,HPO,phenotype,PHENOTYPE_4717
4718,4718,4718,4718,4718,4718,4718,4718,11602,Midline direction of ventricular apex,HPO,phenotype,PHENOTYPE_4718
4719,4719,4719,4719,4719,4719,4719,4719,25247,Dermoid cyst,HPO,phenotype,PHENOTYPE_4719
4720,4720,4720,4720,4720,4720,4720,4720,30510,Combined hamartoma of the retinal pigment epithelium and retina,HPO,phenotype,PHENOTYPE_4720
4721,4721,4721,4721,4721,4721,4721,4721,6001130,Distal radioulnar joint arthritis,HPO,phenotype,PHENOTYPE_4721
4722,4722,4722,4722,4722,4722,4722,4722,9708,Synostosis involving the 5th metacarpal,HPO,phenotype,PHENOTYPE_4722
4723,4723,4723,4723,4723,4723,4723,4723,5200295,Periodic limb movements,HPO,phenotype,PHENOTYPE_4723
4724,4724,4724,4724,4724,4724,4724,4724,410345,Increased urinary polyhexose,HPO,phenotype,PHENOTYPE_4724
4725,4725,4725,4725,4725,4725,4725,4725,100681,Esophageal duplication,HPO,phenotype,PHENOTYPE_4725
4726,4726,4726,4726,4726,4726,4726,4726,100175,Ivory epiphysis of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_4726
4727,4727,4727,4727,4727,4727,4727,4727,40197,Encephalomalacia,HPO,phenotype,PHENOTYPE_4727
4728,4728,4728,4728,4728,4728,4728,4728,10664,Fusion of the left and right thalami,HPO,phenotype,PHENOTYPE_4728
4729,4729,4729,4729,4729,4729,4729,4729,41196,Fractured distal epiphysis of radius,HPO,phenotype,PHENOTYPE_4729
4730,4730,4730,4730,4730,4730,4730,4730,6000980,Bone marrow hemophagocytosis,HPO,phenotype,PHENOTYPE_4730
4731,4731,4731,4731,4731,4731,4731,4731,4371,Abnormality of glycosaminoglycan metabolism,HPO,phenotype,PHENOTYPE_4731
4732,4732,4732,4732,4732,4732,4732,4732,6647,Congenital microthorax,HPO,phenotype,PHENOTYPE_4732
4733,4733,4733,4733,4733,4733,4733,4733,10680,Elevated alkaline phosphatase of renal origin,HPO,phenotype,PHENOTYPE_4733
4734,4734,4734,4734,4734,4734,4734,4734,20099,Severe norovirus infection,HPO,phenotype,PHENOTYPE_4734
4735,4735,4735,4735,4735,4735,4735,4735,34241,Prenatal death,HPO,phenotype,PHENOTYPE_4735
4736,4736,4736,4736,4736,4736,4736,4736,410311,Hyposegmentation of neutrophil nuclei in CSF,HPO,phenotype,PHENOTYPE_4736
4737,4737,4737,4737,4737,4737,4737,4737,10741,Pedal edema,HPO,phenotype,PHENOTYPE_4737
4738,4738,4738,4738,4738,4738,4738,4738,6001082,Abnormal urine D-xylose test,HPO,phenotype,PHENOTYPE_4738
4739,4739,4739,4739,4739,4739,4739,4739,5200423,Abnormal experience of reality,HPO,phenotype,PHENOTYPE_4739
4740,4740,4740,4740,4740,4740,4740,4740,12307,Spatulate ribs,HPO,phenotype,PHENOTYPE_4740
4741,4741,4741,4741,4741,4741,4741,4741,4619,Lumbar kyphoscoliosis,HPO,phenotype,PHENOTYPE_4741
4742,4742,4742,4742,4742,4742,4742,4742,12748,Focal T2 hyperintense brainstem lesion,HPO,phenotype,PHENOTYPE_4742
4743,4743,4743,4743,4743,4743,4743,4743,31984,Esophageal food impaction,HPO,phenotype,PHENOTYPE_4743
4744,4744,4744,4744,4744,4744,4744,4744,11404,Lethal short-trunk short stature,HPO,phenotype,PHENOTYPE_4744
4745,4745,4745,4745,4745,4745,4745,4745,12202,Increased serum bile acid concentration,HPO,phenotype,PHENOTYPE_4745
4746,4746,4746,4746,4746,4746,4746,4746,8336,Complex organic aciduria,HPO,phenotype,PHENOTYPE_4746
4747,4747,4747,4747,4747,4747,4747,4747,100700,Abnormal arachnoid mater morphology,HPO,phenotype,PHENOTYPE_4747
4748,4748,4748,4748,4748,4748,4748,4748,32553,Weak pulse,HPO,phenotype,PHENOTYPE_4748
4749,4749,4749,4749,4749,4749,4749,4749,11929,Hypersegmentation of proximal phalanx of third finger,HPO,phenotype,PHENOTYPE_4749
4750,4750,4750,4750,4750,4750,4750,4750,6000062,Abnormal nipple discharge,HPO,phenotype,PHENOTYPE_4750
4751,4751,4751,4751,4751,4751,4751,4751,30462,Abnormal amplitude of flash visual evoked potentials,HPO,phenotype,PHENOTYPE_4751
4752,4752,4752,4752,4752,4752,4752,4752,1008,Accumulation of melanosomes in melanocytes,HPO,phenotype,PHENOTYPE_4752
4753,4753,4753,4753,4753,4753,4753,4753,2810,Dumbbell-shaped metaphyses,HPO,phenotype,PHENOTYPE_4753
4754,4754,4754,4754,4754,4754,4754,4754,32576,Intracellular accumulation of Dol-PP-GlcNAc2Man5,HPO,phenotype,PHENOTYPE_4754
4755,4755,4755,4755,4755,4755,4755,4755,10716,3-5 toe syndactyly,HPO,phenotype,PHENOTYPE_4755
4756,4756,4756,4756,4756,4756,4756,4756,30893,Abnormal response to short acting pulmonary vasodilator,HPO,phenotype,PHENOTYPE_4756
4757,4757,4757,4757,4757,4757,4757,4757,32200,Perivascular fibrosis,HPO,phenotype,PHENOTYPE_4757
4758,4758,4758,4758,4758,4758,4758,4758,6000480,Elevated urine manganese level,HPO,phenotype,PHENOTYPE_4758
4759,4759,4759,4759,4759,4759,4759,4759,31718,Consecutive exotropia,HPO,phenotype,PHENOTYPE_4759
4760,4760,4760,4760,4760,4760,4760,4760,32052,Focal cortical dysplasia type IIa,HPO,phenotype,PHENOTYPE_4760
4761,4761,4761,4761,4761,4761,4761,4761,3819,Death in childhood,HPO,phenotype,PHENOTYPE_4761
4762,4762,4762,4762,4762,4762,4762,4762,41188,Fractured proximal phalanx of manual digit 1,HPO,phenotype,PHENOTYPE_4762
4763,4763,4763,4763,4763,4763,4763,4763,3091,Trophic limb changes,HPO,phenotype,PHENOTYPE_4763
4764,4764,4764,4764,4764,4764,4764,4764,100204,Cone-shaped epiphysis of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_4764
4765,4765,4765,4765,4765,4765,4765,4765,11237,Broad inferior crus of antihelix,HPO,phenotype,PHENOTYPE_4765
4766,4766,4766,4766,4766,4766,4766,4766,5200043,Abnormal speech volume,HPO,phenotype,PHENOTYPE_4766
4767,4767,4767,4767,4767,4767,4767,4767,2757,Recurrent fractures,HPO,phenotype,PHENOTYPE_4767
4768,4768,4768,4768,4768,4768,4768,4768,100870,Plantar telangiectasia,HPO,phenotype,PHENOTYPE_4768
4769,4769,4769,4769,4769,4769,4769,4769,100561,Spinal cord lesion,HPO,phenotype,PHENOTYPE_4769
4770,4770,4770,4770,4770,4770,4770,4770,30860,Abnormal CSF amyloid concentration,HPO,phenotype,PHENOTYPE_4770
4771,4771,4771,4771,4771,4771,4771,4771,7408,Tegumentary leishmaniasis susceptibility,HPO,phenotype,PHENOTYPE_4771
4772,4772,4772,4772,4772,4772,4772,4772,33597,Decreased mucosal sucrase-isomaltase activity,HPO,phenotype,PHENOTYPE_4772
4773,4773,4773,4773,4773,4773,4773,4773,30800,Abnormal visual accommodation,HPO,phenotype,PHENOTYPE_4773
4774,4774,4774,4774,4774,4774,4774,4774,11061,Abnormality of dental structure,HPO,phenotype,PHENOTYPE_4774
4775,4775,4775,4775,4775,4775,4775,4775,1177,Preaxial hand polydactyly,HPO,phenotype,PHENOTYPE_4775
4776,4776,4776,4776,4776,4776,4776,4776,6000068,Ameliorated by nerve block,HPO,phenotype,PHENOTYPE_4776
4777,4777,4777,4777,4777,4777,4777,4777,71,Ureteral stenosis,HPO,phenotype,PHENOTYPE_4777
4778,4778,4778,4778,4778,4778,4778,4778,1504,Metacarpal osteolysis,HPO,phenotype,PHENOTYPE_4778
4779,4779,4779,4779,4779,4779,4779,4779,10317,Scapular aplasia,HPO,phenotype,PHENOTYPE_4779
4780,4780,4780,4780,4780,4780,4780,4780,4284,Notched hand bones,HPO,phenotype,PHENOTYPE_4780
4781,4781,4781,4781,4781,4781,4781,4781,33157,Elevated circulating 3-methylhistidine concentration,HPO,phenotype,PHENOTYPE_4781
4782,4782,4782,4782,4782,4782,4782,4782,11139,Gastric duplication,HPO,phenotype,PHENOTYPE_4782
4783,4783,4783,4783,4783,4783,4783,4783,220,Velopharyngeal insufficiency,HPO,phenotype,PHENOTYPE_4783
4784,4784,4784,4784,4784,4784,4784,4784,2741,Recurrent Serratia marcescens infections,HPO,phenotype,PHENOTYPE_4784
4785,4785,4785,4785,4785,4785,4785,4785,34059,Abnormal fetal physiology,HPO,phenotype,PHENOTYPE_4785
4786,4786,4786,4786,4786,4786,4786,4786,3862,Absent humerus,HPO,phenotype,PHENOTYPE_4786
4787,4787,4787,4787,4787,4787,4787,4787,6000887,Elevated blood bismuth concentration,HPO,phenotype,PHENOTYPE_4787
4788,4788,4788,4788,4788,4788,4788,4788,32851,Focal aware sensory seizure with visual features,HPO,phenotype,PHENOTYPE_4788
4789,4789,4789,4789,4789,4789,4789,4789,25732,Abnormal social development,HPO,phenotype,PHENOTYPE_4789
4790,4790,4790,4790,4790,4790,4790,4790,6000379,Pancreatic arteriovenous malformation,HPO,phenotype,PHENOTYPE_4790
4791,4791,4791,4791,4791,4791,4791,4791,33272,Abnormal glomerular endothelial cell morphology,HPO,phenotype,PHENOTYPE_4791
4792,4792,4792,4792,4792,4792,4792,4792,8344,Elevated circulating branched chain amino acid concentration,HPO,phenotype,PHENOTYPE_4792
4793,4793,4793,4793,4793,4793,4793,4793,30757,Tooth abscess,HPO,phenotype,PHENOTYPE_4793
4794,4794,4794,4794,4794,4794,4794,4794,8273,Transient aminoaciduria,HPO,phenotype,PHENOTYPE_4794
4795,4795,4795,4795,4795,4795,4795,4795,25026,H-type rectovestibular fistula,HPO,phenotype,PHENOTYPE_4795
4796,4796,4796,4796,4796,4796,4796,4796,5200296,Abnormal hypnagogia,HPO,phenotype,PHENOTYPE_4796
4797,4797,4797,4797,4797,4797,4797,4797,34530,Bent long bone,HPO,phenotype,PHENOTYPE_4797
4798,4798,4798,4798,4798,4798,4798,4798,25168,Left ventricular diastolic dysfunction,HPO,phenotype,PHENOTYPE_4798
4799,4799,4799,4799,4799,4799,4799,4799,45047,HbS hemoglobin,HPO,phenotype,PHENOTYPE_4799
4800,4800,4800,4800,4800,4800,4800,4800,5617,Bilateral camptodactyly,HPO,phenotype,PHENOTYPE_4800
4801,4801,4801,4801,4801,4801,4801,4801,6000184,Filum terminale lipoma,HPO,phenotype,PHENOTYPE_4801
4802,4802,4802,4802,4802,4802,4802,4802,6000885,Enlarged radial head,HPO,phenotype,PHENOTYPE_4802
4803,4803,4803,4803,4803,4803,4803,4803,33213,Elevated urine suberic acid level,HPO,phenotype,PHENOTYPE_4803
4804,4804,4804,4804,4804,4804,4804,4804,33236,Cognitive fatigue,HPO,phenotype,PHENOTYPE_4804
4805,4805,4805,4805,4805,4805,4805,4805,3923,Square humeral metaphysis,HPO,phenotype,PHENOTYPE_4805
4806,4806,4806,4806,4806,4806,4806,4806,31384,Reduced T cell CD40 expression,HPO,phenotype,PHENOTYPE_4806
4807,4807,4807,4807,4807,4807,4807,4807,33142,Long nasal bridge,HPO,phenotype,PHENOTYPE_4807
4808,4808,4808,4808,4808,4808,4808,4808,33495,Segmental glomerulosclerosis,HPO,phenotype,PHENOTYPE_4808
4809,4809,4809,4809,4809,4809,4809,4809,10251,Irregular epiphyses of the distal phalanges of the hand,HPO,phenotype,PHENOTYPE_4809
4810,4810,4810,4810,4810,4810,4810,4810,5230,Biliary tract obstruction,HPO,phenotype,PHENOTYPE_4810
4811,4811,4811,4811,4811,4811,4811,4811,8320,Impaired collagen-induced platelet aggregation,HPO,phenotype,PHENOTYPE_4811
4812,4812,4812,4812,4812,4812,4812,4812,33411,Lower extremity akinesia,HPO,phenotype,PHENOTYPE_4812
4813,4813,4813,4813,4813,4813,4813,4813,4049,Decreased carpal angles of wrist,HPO,phenotype,PHENOTYPE_4813
4814,4814,4814,4814,4814,4814,4814,4814,12006,Jamais vu aura,HPO,phenotype,PHENOTYPE_4814
4815,4815,4815,4815,4815,4815,4815,4815,410283,Positive blood acetaminophen test,HPO,phenotype,PHENOTYPE_4815
4816,4816,4816,4816,4816,4816,4816,4816,30194,Fatigable weakness of speech muscles,HPO,phenotype,PHENOTYPE_4816
4817,4817,4817,4817,4817,4817,4817,4817,430009,Hypoplasia of eyelid,HPO,phenotype,PHENOTYPE_4817
4818,4818,4818,4818,4818,4818,4818,4818,32243,Abnormal tissue metabolite concentration,HPO,phenotype,PHENOTYPE_4818
4819,4819,4819,4819,4819,4819,4819,4819,6000191,Seminal vesicle cyst,HPO,phenotype,PHENOTYPE_4819
4820,4820,4820,4820,4820,4820,4820,4820,4030,Patchy sclerosis of radial diaphysis,HPO,phenotype,PHENOTYPE_4820
4821,4821,4821,4821,4821,4821,4821,4821,1804,Hypoplastic fingernail,HPO,phenotype,PHENOTYPE_4821
4822,4822,4822,4822,4822,4822,4822,4822,11315,Unicoronal synostosis,HPO,phenotype,PHENOTYPE_4822
4823,4823,4823,4823,4823,4823,4823,4823,100114,Enlarged epiphysis of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_4823
4824,4824,4824,4824,4824,4824,4824,4824,2006,Tessier cleft,HPO,phenotype,PHENOTYPE_4824
4825,4825,4825,4825,4825,4825,4825,4825,12668,Vasovagal syncope,HPO,phenotype,PHENOTYPE_4825
4826,4826,4826,4826,4826,4826,4826,4826,3009,Enhanced neurotoxicity of vincristine,HPO,phenotype,PHENOTYPE_4826
4827,4827,4827,4827,4827,4827,4827,4827,100834,Neoplasm of the large intestine,HPO,phenotype,PHENOTYPE_4827
4828,4828,4828,4828,4828,4828,4828,4828,430068,Positive microfilaria PCR test in the blood circulation,HPO,phenotype,PHENOTYPE_4828
4829,4829,4829,4829,4829,4829,4829,4829,410050,"Decreased level of 1,5 anhydroglucitol in serum",HPO,phenotype,PHENOTYPE_4829
4830,4830,4830,4830,4830,4830,4830,4830,45008,Abnormal shape of the radius,HPO,phenotype,PHENOTYPE_4830
4831,4831,4831,4831,4831,4831,4831,4831,30877,Reduced FEV1/FVC ratio,HPO,phenotype,PHENOTYPE_4831
4832,4832,4832,4832,4832,4832,4832,4832,5678,Anterior atlanto-occipital dislocation,HPO,phenotype,PHENOTYPE_4832
4833,4833,4833,4833,4833,4833,4833,4833,33836,Abnormal intrarenal artery morphology,HPO,phenotype,PHENOTYPE_4833
4834,4834,4834,4834,4834,4834,4834,4834,12872,Abnormal vas deferens morphology,HPO,phenotype,PHENOTYPE_4834
4835,4835,4835,4835,4835,4835,4835,4835,2756,Pathologic fracture,HPO,phenotype,PHENOTYPE_4835
4836,4836,4836,4836,4836,4836,4836,4836,6000134,Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_4836
4837,4837,4837,4837,4837,4837,4837,4837,41043,Neutrophil nuclear clefts,HPO,phenotype,PHENOTYPE_4837
4838,4838,4838,4838,4838,4838,4838,4838,2673,Coxa valga,HPO,phenotype,PHENOTYPE_4838
4839,4839,4839,4839,4839,4839,4839,4839,2015,Dysphagia,HPO,phenotype,PHENOTYPE_4839
4840,4840,4840,4840,4840,4840,4840,4840,3251,Male infertility,HPO,phenotype,PHENOTYPE_4840
4841,4841,4841,4841,4841,4841,4841,4841,41219,Fractured elbow,HPO,phenotype,PHENOTYPE_4841
4842,4842,4842,4842,4842,4842,4842,4842,100100,Absent epiphysis of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_4842
4843,4843,4843,4843,4843,4843,4843,4843,33419,Elevated circulating 3-hydroxybutyric acid concentration,HPO,phenotype,PHENOTYPE_4843
4844,4844,4844,4844,4844,4844,4844,4844,25177,Peribronchovascular interstitial thickening,HPO,phenotype,PHENOTYPE_4844
4845,4845,4845,4845,4845,4845,4845,4845,30766,Ear pain,HPO,phenotype,PHENOTYPE_4845
4846,4846,4846,4846,4846,4846,4846,4846,9674,Triangular epiphysis of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_4846
4847,4847,4847,4847,4847,4847,4847,4847,5200289,Microsleep,HPO,phenotype,PHENOTYPE_4847
4848,4848,4848,4848,4848,4848,4848,4848,11626,Scimitar anomaly,HPO,phenotype,PHENOTYPE_4848
4849,4849,4849,4849,4849,4849,4849,4849,34941,Palatine myxoma,HPO,phenotype,PHENOTYPE_4849
4850,4850,4850,4850,4850,4850,4850,4850,34637,Pulmonary cylindroma,HPO,phenotype,PHENOTYPE_4850
4851,4851,4851,4851,4851,4851,4851,4851,710,Hyperorality,HPO,phenotype,PHENOTYPE_4851
4852,4852,4852,4852,4852,4852,4852,4852,32670,Tonic status epilepticus,HPO,phenotype,PHENOTYPE_4852
4853,4853,4853,4853,4853,4853,4853,4853,9263,Cone-shaped epiphysis of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_4853
4854,4854,4854,4854,4854,4854,4854,4854,100473,Symphalangism affecting the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_4854
4855,4855,4855,4855,4855,4855,4855,4855,5828,Transient pulmonary infiltrates,HPO,phenotype,PHENOTYPE_4855
4856,4856,4856,4856,4856,4856,4856,4856,12510,Extra-axial cerebrospinal fluid accumulation,HPO,phenotype,PHENOTYPE_4856
4857,4857,4857,4857,4857,4857,4857,4857,10722,Asymmetry of the ears,HPO,phenotype,PHENOTYPE_4857
4858,4858,4858,4858,4858,4858,4858,4858,30308,Flared distal tibial metaphysis,HPO,phenotype,PHENOTYPE_4858
4859,4859,4859,4859,4859,4859,4859,4859,100217,Fragmentation of the epiphysis of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_4859
4860,4860,4860,4860,4860,4860,4860,4860,4851,Folate-responsive megaloblastic anemia,HPO,phenotype,PHENOTYPE_4860
4861,4861,4861,4861,4861,4861,4861,4861,5200410,Auditory agnosia,HPO,phenotype,PHENOTYPE_4861
4862,4862,4862,4862,4862,4862,4862,4862,9256,Ivory epiphysis of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_4862
4863,4863,4863,4863,4863,4863,4863,4863,31909,Unicornuate uterus,HPO,phenotype,PHENOTYPE_4863
4864,4864,4864,4864,4864,4864,4864,4864,5000047,Anti-ryanodine receptor antibody,HPO,phenotype,PHENOTYPE_4864
4865,4865,4865,4865,4865,4865,4865,4865,6347,Microdontia of primary teeth,HPO,phenotype,PHENOTYPE_4865
4866,4866,4866,4866,4866,4866,4866,4866,32522,Ameliorated by immunosuppresion,HPO,phenotype,PHENOTYPE_4866
4867,4867,4867,4867,4867,4867,4867,4867,6000886,Enlarged distal tibial epiphysis,HPO,phenotype,PHENOTYPE_4867
4868,4868,4868,4868,4868,4868,4868,4868,1442,Typified by somatic mosaicism,HPO,phenotype,PHENOTYPE_4868
4869,4869,4869,4869,4869,4869,4869,4869,12028,Hepatocellular adenoma,HPO,phenotype,PHENOTYPE_4869
4870,4870,4870,4870,4870,4870,4870,4870,769,Abnormality of the breast,HPO,phenotype,PHENOTYPE_4870
4871,4871,4871,4871,4871,4871,4871,4871,30969,Abnormal pulmonary vein physiology,HPO,phenotype,PHENOTYPE_4871
4872,4872,4872,4872,4872,4872,4872,4872,4018,Flared radial metaphysis,HPO,phenotype,PHENOTYPE_4872
4873,4873,4873,4873,4873,4873,4873,4873,12546,Skewed maternal X inactivation,HPO,phenotype,PHENOTYPE_4873
4874,4874,4874,4874,4874,4874,4874,4874,31359,Cutaneous sclerotic plaque,HPO,phenotype,PHENOTYPE_4874
4875,4875,4875,4875,4875,4875,4875,4875,32182,Abnormal proportion of memory T cells,HPO,phenotype,PHENOTYPE_4875
4876,4876,4876,4876,4876,4876,4876,4876,4000017,Anti-desmoplakin I antibody positivity,HPO,phenotype,PHENOTYPE_4876
4877,4877,4877,4877,4877,4877,4877,4877,410304,Complete or near-complete absence of specific antibody response to meningococcus vaccine,HPO,phenotype,PHENOTYPE_4877
4878,4878,4878,4878,4878,4878,4878,4878,100448,Curved proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_4878
4879,4879,4879,4879,4879,4879,4879,4879,500247,Abnormal CSF alpha-aminobutyrate concentration,HPO,phenotype,PHENOTYPE_4879
4880,4880,4880,4880,4880,4880,4880,4880,2552,Trichodysplasia,HPO,phenotype,PHENOTYPE_4880
4881,4881,4881,4881,4881,4881,4881,4881,33626,Increased non-HDL cholesterol concentration,HPO,phenotype,PHENOTYPE_4881
4882,4882,4882,4882,4882,4882,4882,4882,12898,Abnormal lower-limb motor evoked potentials,HPO,phenotype,PHENOTYPE_4882
4883,4883,4883,4883,4883,4883,4883,4883,34626,Pulmonary xanthomatosis,HPO,phenotype,PHENOTYPE_4883
4884,4884,4884,4884,4884,4884,4884,4884,10392,Abnormality of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_4884
4885,4885,4885,4885,4885,4885,4885,4885,6000331,Elevated urinary thymine level,HPO,phenotype,PHENOTYPE_4885
4886,4886,4886,4886,4886,4886,4886,4886,30086,Reduced CSF lactate,HPO,phenotype,PHENOTYPE_4886
4887,4887,4887,4887,4887,4887,4887,4887,371,Acute otitis media,HPO,phenotype,PHENOTYPE_4887
4888,4888,4888,4888,4888,4888,4888,4888,500022,Abnormal circulating dehydroepiandrosterone concentration,HPO,phenotype,PHENOTYPE_4888
4889,4889,4889,4889,4889,4889,4889,4889,5638,Decreased anterioposterior diameter of lumbar vertebral bodies,HPO,phenotype,PHENOTYPE_4889
4890,4890,4890,4890,4890,4890,4890,4890,34196,Ductus venosus agenesis,HPO,phenotype,PHENOTYPE_4890
4891,4891,4891,4891,4891,4891,4891,4891,8322,Abnormal mitochondrial morphology,HPO,phenotype,PHENOTYPE_4891
4892,4892,4892,4892,4892,4892,4892,4892,3000049,Abnormal greater palatine artery morphology,HPO,phenotype,PHENOTYPE_4892
4893,4893,4893,4893,4893,4893,4893,4893,20276,Increased large lymphocytes in lymph node,HPO,phenotype,PHENOTYPE_4893
4894,4894,4894,4894,4894,4894,4894,4894,4216,Osteolytic defects of the phalanges of the 5th finger,HPO,phenotype,PHENOTYPE_4894
4895,4895,4895,4895,4895,4895,4895,4895,12142,Pancreatic squamous cell carcinoma,HPO,phenotype,PHENOTYPE_4895
4896,4896,4896,4896,4896,4896,4896,4896,500183,Abnormal CSF carboxylic acid concentration,HPO,phenotype,PHENOTYPE_4896
4897,4897,4897,4897,4897,4897,4897,4897,9575,Triangular shaped middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_4897
4898,4898,4898,4898,4898,4898,4898,4898,746,Delusion,HPO,phenotype,PHENOTYPE_4898
4899,4899,4899,4899,4899,4899,4899,4899,3276,Pelvic bone exostoses,HPO,phenotype,PHENOTYPE_4899
4900,4900,4900,4900,4900,4900,4900,4900,7429,Few cafe-au-lait spots,HPO,phenotype,PHENOTYPE_4900
4901,4901,4901,4901,4901,4901,4901,4901,9152,Abnormality of the epiphyses of the 5th finger,HPO,phenotype,PHENOTYPE_4901
4902,4902,4902,4902,4902,4902,4902,4902,1692,Atrial arrhythmia,HPO,phenotype,PHENOTYPE_4902
4903,4903,4903,4903,4903,4903,4903,4903,641,Dysmetric saccades,HPO,phenotype,PHENOTYPE_4903
4904,4904,4904,4904,4904,4904,4904,4904,2049,Proximal renal tubular acidosis,HPO,phenotype,PHENOTYPE_4904
4905,4905,4905,4905,4905,4905,4905,4905,31962,Elevated serum anion gap,HPO,phenotype,PHENOTYPE_4905
4906,4906,4906,4906,4906,4906,4906,4906,7987,Progressive visual field defects,HPO,phenotype,PHENOTYPE_4906
4907,4907,4907,4907,4907,4907,4907,4907,3542,Increased circulating pyruvate concentration,HPO,phenotype,PHENOTYPE_4907
4908,4908,4908,4908,4908,4908,4908,4908,41145,Fractured acetabular part of hip bone,HPO,phenotype,PHENOTYPE_4908
4909,4909,4909,4909,4909,4909,4909,4909,31403,Impaired pathogen-specific CD8 cytoxicity,HPO,phenotype,PHENOTYPE_4909
4910,4910,4910,4910,4910,4910,4910,4910,12776,Abnormal ciliary body morphology,HPO,phenotype,PHENOTYPE_4910
4911,4911,4911,4911,4911,4911,4911,4911,4959,Descending thoracic aorta aneurysm,HPO,phenotype,PHENOTYPE_4911
4912,4912,4912,4912,4912,4912,4912,4912,4337,Abnormality of amino acid metabolism,HPO,phenotype,PHENOTYPE_4912
4913,4913,4913,4913,4913,4913,4913,4913,30480,Abnormal timing of light-adapted flicker electroretinogram,HPO,phenotype,PHENOTYPE_4913
4914,4914,4914,4914,4914,4914,4914,4914,40064,Abnormality of limbs,HPO,phenotype,PHENOTYPE_4914
4915,4915,4915,4915,4915,4915,4915,4915,6000611,Elevated circulating chitotriosidase activity,HPO,phenotype,PHENOTYPE_4915
4916,4916,4916,4916,4916,4916,4916,4916,4286,Patchy sclerosis of hand bones,HPO,phenotype,PHENOTYPE_4916
4917,4917,4917,4917,4917,4917,4917,4917,30116,Abnormal muscle fiber emerin,HPO,phenotype,PHENOTYPE_4917
4918,4918,4918,4918,4918,4918,4918,4918,9936,Narrow nasal septum,HPO,phenotype,PHENOTYPE_4918
4919,4919,4919,4919,4919,4919,4919,4919,100005,Testicular mesothelioma,HPO,phenotype,PHENOTYPE_4919
4920,4920,4920,4920,4920,4920,4920,4920,4785,Malrotation of colon,HPO,phenotype,PHENOTYPE_4920
4921,4921,4921,4921,4921,4921,4921,4921,34625,Brain xanthomatosis,HPO,phenotype,PHENOTYPE_4921
4922,4922,4922,4922,4922,4922,4922,4922,3596,Middle age onset,HPO,phenotype,PHENOTYPE_4922
4923,4923,4923,4923,4923,4923,4923,4923,7985,Retinal arteriolar occlusion,HPO,phenotype,PHENOTYPE_4923
4924,4924,4924,4924,4924,4924,4924,4924,34842,Enlarged sperm head vacuole,HPO,phenotype,PHENOTYPE_4924
4925,4925,4925,4925,4925,4925,4925,4925,34137,Anti-contactin-1 antibody positivity,HPO,phenotype,PHENOTYPE_4925
4926,4926,4926,4926,4926,4926,4926,4926,6000312,Thickened Descemet membrane,HPO,phenotype,PHENOTYPE_4926
4927,4927,4927,4927,4927,4927,4927,4927,6000533,Elevated urinary N-methylhistamine level,HPO,phenotype,PHENOTYPE_4927
4928,4928,4928,4928,4928,4928,4928,4928,33570,Indeterminate ventricular axis,HPO,phenotype,PHENOTYPE_4928
4929,4929,4929,4929,4929,4929,4929,4929,25023,Rectal atresia,HPO,phenotype,PHENOTYPE_4929
4930,4930,4930,4930,4930,4930,4930,4930,100357,Contracture of the metatarsophalangeal joint of the 3rd toe,HPO,phenotype,PHENOTYPE_4930
4931,4931,4931,4931,4931,4931,4931,4931,31701,Anterior chamber inflammatory cells,HPO,phenotype,PHENOTYPE_4931
4932,4932,4932,4932,4932,4932,4932,4932,410259,Hepatopulmonary fusion,HPO,phenotype,PHENOTYPE_4932
4933,4933,4933,4933,4933,4933,4933,4933,3273,Hip contracture,HPO,phenotype,PHENOTYPE_4933
4934,4934,4934,4934,4934,4934,4934,4934,30848,Elevated jugular venous pressure,HPO,phenotype,PHENOTYPE_4934
4935,4935,4935,4935,4935,4935,4935,4935,32525,Exacerbated by acetylcholinesterase inhibitor exposure,HPO,phenotype,PHENOTYPE_4935
4936,4936,4936,4936,4936,4936,4936,4936,500109,Positive urine barbiturate test,HPO,phenotype,PHENOTYPE_4936
4937,4937,4937,4937,4937,4937,4937,4937,35018,Elevated circulating long-chain acylcarnitine concentration,HPO,phenotype,PHENOTYPE_4937
4938,4938,4938,4938,4938,4938,4938,4938,6000051,Located on the chest,HPO,phenotype,PHENOTYPE_4938
4939,4939,4939,4939,4939,4939,4939,4939,10605,Chalazion,HPO,phenotype,PHENOTYPE_4939
4940,4940,4940,4940,4940,4940,4940,4940,6000847,Cardiac mass,HPO,phenotype,PHENOTYPE_4940
4941,4941,4941,4941,4941,4941,4941,4941,9910,Aplasia of the middle ear ossicles,HPO,phenotype,PHENOTYPE_4941
4942,4942,4942,4942,4942,4942,4942,4942,10150,Bracket epiphysis of the 1st metatarsal,HPO,phenotype,PHENOTYPE_4942
4943,4943,4943,4943,4943,4943,4943,4943,12248,Prolonged PR interval,HPO,phenotype,PHENOTYPE_4943
4944,4944,4944,4944,4944,4944,4944,4944,31589,Suicidal ideation,HPO,phenotype,PHENOTYPE_4944
4945,4945,4945,4945,4945,4945,4945,4945,25224,Triggered by sodium ingestion,HPO,phenotype,PHENOTYPE_4945
4946,4946,4946,4946,4946,4946,4946,4946,32777,Focal impaired awareness autonomic seizure with pallor/flushing,HPO,phenotype,PHENOTYPE_4946
4947,4947,4947,4947,4947,4947,4947,4947,33397,Bowman-space proteinaceous debris,HPO,phenotype,PHENOTYPE_4947
4948,4948,4948,4948,4948,4948,4948,4948,4357,Abnormal circulating leucine concentration,HPO,phenotype,PHENOTYPE_4948
4949,4949,4949,4949,4949,4949,4949,4949,33953,Cortical radial artery endotheliosis,HPO,phenotype,PHENOTYPE_4949
4950,4950,4950,4950,4950,4950,4950,4950,31977,Increased vertical cup-to-disc ratio - 0.9,HPO,phenotype,PHENOTYPE_4950
4951,4951,4951,4951,4951,4951,4951,4951,11146,Dialeptic seizure,HPO,phenotype,PHENOTYPE_4951
4952,4952,4952,4952,4952,4952,4952,4952,32362,Increased circulating corticosterone level,HPO,phenotype,PHENOTYPE_4952
4953,4953,4953,4953,4953,4953,4953,4953,6000371,Elevated circulating D-glyceric concentration,HPO,phenotype,PHENOTYPE_4953
4954,4954,4954,4954,4954,4954,4954,4954,12423,Colonic inertia,HPO,phenotype,PHENOTYPE_4954
4955,4955,4955,4955,4955,4955,4955,4955,410241,Abnormal circulating IgE concentration,HPO,phenotype,PHENOTYPE_4955
4956,4956,4956,4956,4956,4956,4956,4956,30228,Abnormal muscle fiber valosin-containing protein,HPO,phenotype,PHENOTYPE_4956
4957,4957,4957,4957,4957,4957,4957,4957,9736,Tibial pseudarthrosis,HPO,phenotype,PHENOTYPE_4957
4958,4958,4958,4958,4958,4958,4958,4958,32884,Focal aware sensory seizure with somatosensory features,HPO,phenotype,PHENOTYPE_4958
4959,4959,4959,4959,4959,4959,4959,4959,40160,Generalized osteoporosis,HPO,phenotype,PHENOTYPE_4959
4960,4960,4960,4960,4960,4960,4960,4960,11434,Low maternal circulating chorionic gonadotropin concentration,HPO,phenotype,PHENOTYPE_4960
4961,4961,4961,4961,4961,4961,4961,4961,6000898,Gastric carcinoid tumor,HPO,phenotype,PHENOTYPE_4961
4962,4962,4962,4962,4962,4962,4962,4962,607,Periorbital wrinkles,HPO,phenotype,PHENOTYPE_4962
4963,4963,4963,4963,4963,4963,4963,4963,40078,Axonal degeneration,HPO,phenotype,PHENOTYPE_4963
4964,4964,4964,4964,4964,4964,4964,4964,20159,Reduced response to gonadotropin-releasing hormone stimulation test,HPO,phenotype,PHENOTYPE_4964
4965,4965,4965,4965,4965,4965,4965,4965,32467,Past obstetric history,HPO,phenotype,PHENOTYPE_4965
4966,4966,4966,4966,4966,4966,4966,4966,100172,Enlarged epiphysis of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_4966
4967,4967,4967,4967,4967,4967,4967,4967,11218,Abnormal shape of the frontal region,HPO,phenotype,PHENOTYPE_4967
4968,4968,4968,4968,4968,4968,4968,4968,25620,Abnormal proportion of CD4+ central memory cells,HPO,phenotype,PHENOTYPE_4968
4969,4969,4969,4969,4969,4969,4969,4969,11728,Elbow clonus,HPO,phenotype,PHENOTYPE_4969
4970,4970,4970,4970,4970,4970,4970,4970,31368,Intestinal perforation,HPO,phenotype,PHENOTYPE_4970
4971,4971,4971,4971,4971,4971,4971,4971,1680,Coarctation of aorta,HPO,phenotype,PHENOTYPE_4971
4972,4972,4972,4972,4972,4972,4972,4972,11206,EEG with generalized slow activity grade 1,HPO,phenotype,PHENOTYPE_4972
4973,4973,4973,4973,4973,4973,4973,4973,500204,Decreased CSF arginine concentration,HPO,phenotype,PHENOTYPE_4973
4974,4974,4974,4974,4974,4974,4974,4974,1349,Facial diplegia,HPO,phenotype,PHENOTYPE_4974
4975,4975,4975,4975,4975,4975,4975,4975,31828,Abnormal superficial reflex,HPO,phenotype,PHENOTYPE_4975
4976,4976,4976,4976,4976,4976,4976,4976,2863,Myelodysplasia,HPO,phenotype,PHENOTYPE_4976
4977,4977,4977,4977,4977,4977,4977,4977,410253,Myeloid maturation arrest,HPO,phenotype,PHENOTYPE_4977
4978,4978,4978,4978,4978,4978,4978,4978,7438,Mottled pigmentation of the trunk and proximal extremities,HPO,phenotype,PHENOTYPE_4978
4979,4979,4979,4979,4979,4979,4979,4979,31687,Abnormally loud pulmonic component of the second heart sound,HPO,phenotype,PHENOTYPE_4979
4980,4980,4980,4980,4980,4980,4980,4980,34762,Tongue neurofibroma,HPO,phenotype,PHENOTYPE_4980
4981,4981,4981,4981,4981,4981,4981,4981,6000606,Elevated urinary D-glyceric acid level,HPO,phenotype,PHENOTYPE_4981
4982,4982,4982,4982,4982,4982,4982,4982,25332,Abnormality of foot cortical bone,HPO,phenotype,PHENOTYPE_4982
4983,4983,4983,4983,4983,4983,4983,4983,12241,Levator palpebrae superioris atrophy,HPO,phenotype,PHENOTYPE_4983
4984,4984,4984,4984,4984,4984,4984,4984,7626,Mandibular osteomyelitis,HPO,phenotype,PHENOTYPE_4984
4985,4985,4985,4985,4985,4985,4985,4985,6001029,Diminished glomerular basement membrane collagen IV alpha 5 chain staining,HPO,phenotype,PHENOTYPE_4985
4986,4986,4986,4986,4986,4986,4986,4986,30856,Posterior staphyloma,HPO,phenotype,PHENOTYPE_4986
4987,4987,4987,4987,4987,4987,4987,4987,10702,Increased circulating antibody concentration,HPO,phenotype,PHENOTYPE_4987
4988,4988,4988,4988,4988,4988,4988,4988,3155,Elevated circulating alkaline phosphatase concentration,HPO,phenotype,PHENOTYPE_4988
4989,4989,4989,4989,4989,4989,4989,4989,6000613,Enlarged fetal lungs,HPO,phenotype,PHENOTYPE_4989
4990,4990,4990,4990,4990,4990,4990,4990,34899,Abnormal amniotic fluid protein concentration,HPO,phenotype,PHENOTYPE_4990
4991,4991,4991,4991,4991,4991,4991,4991,10701,Abnormal circulating immunoglobulin concentration,HPO,phenotype,PHENOTYPE_4991
4992,4992,4992,4992,4992,4992,4992,4992,357,Abnormal location of ears,HPO,phenotype,PHENOTYPE_4992
4993,4993,4993,4993,4993,4993,4993,4993,6000850,Temporal cortex localization,HPO,phenotype,PHENOTYPE_4993
4994,4994,4994,4994,4994,4994,4994,4994,6000005,Exposure to inhaled lipids,HPO,phenotype,PHENOTYPE_4994
4995,4995,4995,4995,4995,4995,4995,4995,31483,Reduced contraction of the left ventricular apex,HPO,phenotype,PHENOTYPE_4995
4996,4996,4996,4996,4996,4996,4996,4996,6000517,Elevated monolysocardiolipin/cardiolipin ratio,HPO,phenotype,PHENOTYPE_4996
4997,4997,4997,4997,4997,4997,4997,4997,20043,Vertical incomitant strabismus,HPO,phenotype,PHENOTYPE_4997
4998,4998,4998,4998,4998,4998,4998,4998,34689,Reduced sterol 27-hydroxylase activity,HPO,phenotype,PHENOTYPE_4998
4999,4999,4999,4999,4999,4999,4999,4999,8000,Decreased corneal reflex,HPO,phenotype,PHENOTYPE_4999
5000,5000,5000,5000,5000,5000,5000,5000,9216,Cone-shaped epiphysis of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_5000
5001,5001,5001,5001,5001,5001,5001,5001,11347,Abnormality of ocular abduction,HPO,phenotype,PHENOTYPE_5001
5002,5002,5002,5002,5002,5002,5002,5002,34140,Anti-SUMO-activating enzyme subunit 1 antibody positivity,HPO,phenotype,PHENOTYPE_5002
5003,5003,5003,5003,5003,5003,5003,5003,6000311,History of abdominal surgery,HPO,phenotype,PHENOTYPE_5003
5004,5004,5004,5004,5004,5004,5004,5004,40212,Risus sardonicus,HPO,phenotype,PHENOTYPE_5004
5005,5005,5005,5005,5005,5005,5005,5005,9264,Enlarged epiphysis of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_5005
5006,5006,5006,5006,5006,5006,5006,5006,5855,Multiple prenatal fractures,HPO,phenotype,PHENOTYPE_5006
5007,5007,5007,5007,5007,5007,5007,5007,40095,Neoplasm of the outer ear,HPO,phenotype,PHENOTYPE_5007
5008,5008,5008,5008,5008,5008,5008,5008,6000593,Supernumerary tarsal bone,HPO,phenotype,PHENOTYPE_5008
5009,5009,5009,5009,5009,5009,5009,5009,3841,Fragmented epiphyses of the upper limbs,HPO,phenotype,PHENOTYPE_5009
5010,5010,5010,5010,5010,5010,5010,5010,100780,Conjunctival hamartoma,HPO,phenotype,PHENOTYPE_5010
5011,5011,5011,5011,5011,5011,5011,5011,6000060,Aerophagia,HPO,phenotype,PHENOTYPE_5011
5012,5012,5012,5012,5012,5012,5012,5012,100104,Fragmentation of the epiphysis of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_5012
5013,5013,5013,5013,5013,5013,5013,5013,30657,Umbilical cord hematoma,HPO,phenotype,PHENOTYPE_5013
5014,5014,5014,5014,5014,5014,5014,5014,12249,Abnormal ST segment,HPO,phenotype,PHENOTYPE_5014
5015,5015,5015,5015,5015,5015,5015,5015,7377,Abnormality of somatosensory evoked potentials,HPO,phenotype,PHENOTYPE_5015
5016,5016,5016,5016,5016,5016,5016,5016,11671,Interrupted inferior vena cava with azygous continuation,HPO,phenotype,PHENOTYPE_5016
5017,5017,5017,5017,5017,5017,5017,5017,34359,Impaired renal tubular reabsorption of phosphate,HPO,phenotype,PHENOTYPE_5017
5018,5018,5018,5018,5018,5018,5018,5018,33103,Elevated circulating CHI3L1 level,HPO,phenotype,PHENOTYPE_5018
5019,5019,5019,5019,5019,5019,5019,5019,40062,Slender radius,HPO,phenotype,PHENOTYPE_5019
5020,5020,5020,5020,5020,5020,5020,5020,32749,Focal impaired awareness emotional seizure with paranoia,HPO,phenotype,PHENOTYPE_5020
5021,5021,5021,5021,5021,5021,5021,5021,31315,External carotid artery calcification,HPO,phenotype,PHENOTYPE_5021
5022,5022,5022,5022,5022,5022,5022,5022,1027,"Soft, doughy skin",HPO,phenotype,PHENOTYPE_5022
5023,5023,5023,5023,5023,5023,5023,5023,10160,Abnormal toe epiphysis morphology,HPO,phenotype,PHENOTYPE_5023
5024,5024,5024,5024,5024,5024,5024,5024,5924,Abnormal hand epiphysis morphology,HPO,phenotype,PHENOTYPE_5024
5025,5025,5025,5025,5025,5025,5025,5025,6000864,Transverse smile,HPO,phenotype,PHENOTYPE_5025
5026,5026,5026,5026,5026,5026,5026,5026,33084,Abnormal antral follicle count,HPO,phenotype,PHENOTYPE_5026
5027,5027,5027,5027,5027,5027,5027,5027,5220,Multiple intestinal neurofibromatosis,HPO,phenotype,PHENOTYPE_5027
5028,5028,5028,5028,5028,5028,5028,5028,9464,Ulnar deviation of the 2nd finger,HPO,phenotype,PHENOTYPE_5028
5029,5029,5029,5029,5029,5029,5029,5029,32919,Focal aware head nodding automatism seizure,HPO,phenotype,PHENOTYPE_5029
5030,5030,5030,5030,5030,5030,5030,5030,925,Abnormality of the vertebral column,HPO,phenotype,PHENOTYPE_5030
5031,5031,5031,5031,5031,5031,5031,5031,33680,Pilocytic astrocytoma,HPO,phenotype,PHENOTYPE_5031
5032,5032,5032,5032,5032,5032,5032,5032,32011,Heterophoria,HPO,phenotype,PHENOTYPE_5032
5033,5033,5033,5033,5033,5033,5033,5033,8055,Aplasia/Hypoplasia affecting the uvea,HPO,phenotype,PHENOTYPE_5033
5034,5034,5034,5034,5034,5034,5034,5034,40128,Abnormal sweat electrolytes,HPO,phenotype,PHENOTYPE_5034
5035,5035,5035,5035,5035,5035,5035,5035,9985,Duplication of phalanx of 5th finger,HPO,phenotype,PHENOTYPE_5035
5036,5036,5036,5036,5036,5036,5036,5036,491,Keratitis,HPO,phenotype,PHENOTYPE_5036
5037,5037,5037,5037,5037,5037,5037,5037,2160,Hyperhomocystinemia,HPO,phenotype,PHENOTYPE_5037
5038,5038,5038,5038,5038,5038,5038,5038,32062,Mallory-Weiss tear,HPO,phenotype,PHENOTYPE_5038
5039,5039,5039,5039,5039,5039,5039,5039,3737,Mitochondrial myopathy,HPO,phenotype,PHENOTYPE_5039
5040,5040,5040,5040,5040,5040,5040,5040,255,Acute sinusitis,HPO,phenotype,PHENOTYPE_5040
5041,5041,5041,5041,5041,5041,5041,5041,100636,Pulmonary paraglioma,HPO,phenotype,PHENOTYPE_5041
5042,5042,5042,5042,5042,5042,5042,5042,34180,Fusion of the caudate and putamen,HPO,phenotype,PHENOTYPE_5042
5043,5043,5043,5043,5043,5043,5043,5043,4000039,Reduced proportion of mucosal-associated invariant T cells,HPO,phenotype,PHENOTYPE_5043
5044,5044,5044,5044,5044,5044,5044,5044,7330,Frontoethmoidal encephalocele,HPO,phenotype,PHENOTYPE_5044
5045,5045,5045,5045,5045,5045,5045,5045,32421,Decreased HDL2a concentration,HPO,phenotype,PHENOTYPE_5045
5046,5046,5046,5046,5046,5046,5046,5046,25789,Radiolucent,HPO,phenotype,PHENOTYPE_5046
5047,5047,5047,5047,5047,5047,5047,5047,34808,Eyelid pain,HPO,phenotype,PHENOTYPE_5047
5048,5048,5048,5048,5048,5048,5048,5048,456,Bifid nasal tip,HPO,phenotype,PHENOTYPE_5048
5049,5049,5049,5049,5049,5049,5049,5049,5200133,Intense attachment to unusual objects,HPO,phenotype,PHENOTYPE_5049
5050,5050,5050,5050,5050,5050,5050,5050,6706,Cystic liver disease,HPO,phenotype,PHENOTYPE_5050
5051,5051,5051,5051,5051,5051,5051,5051,5000027,Anti-P/Q-type VGCC antibody positivity,HPO,phenotype,PHENOTYPE_5051
5052,5052,5052,5052,5052,5052,5052,5052,10194,Aplasia/Hypoplasia of the middle phalanges of the toes,HPO,phenotype,PHENOTYPE_5052
5053,5053,5053,5053,5053,5053,5053,5053,6000415,Intradural spinal lipoma,HPO,phenotype,PHENOTYPE_5053
5054,5054,5054,5054,5054,5054,5054,5054,11169,Generalized clonic seizure,HPO,phenotype,PHENOTYPE_5054
5055,5055,5055,5055,5055,5055,5055,5055,500116,Positive blood barbiturate test,HPO,phenotype,PHENOTYPE_5055
5056,5056,5056,5056,5056,5056,5056,5056,900,Thickened ribs,HPO,phenotype,PHENOTYPE_5056
5057,5057,5057,5057,5057,5057,5057,5057,12697,Small basal ganglia,HPO,phenotype,PHENOTYPE_5057
5058,5058,5058,5058,5058,5058,5058,5058,6000712,Gelatinous drop-like dystrophic cornea,HPO,phenotype,PHENOTYPE_5058
5059,5059,5059,5059,5059,5059,5059,5059,5280,Depressed nasal bridge,HPO,phenotype,PHENOTYPE_5059
5060,5060,5060,5060,5060,5060,5060,5060,7045,Midline brain calcifications,HPO,phenotype,PHENOTYPE_5060
5061,5061,5061,5061,5061,5061,5061,5061,1597,Abnormal nail morphology,HPO,phenotype,PHENOTYPE_5061
5062,5062,5062,5062,5062,5062,5062,5062,3254,Abnormality of DNA repair,HPO,phenotype,PHENOTYPE_5062
5063,5063,5063,5063,5063,5063,5063,5063,2346,Head tremor,HPO,phenotype,PHENOTYPE_5063
5064,5064,5064,5064,5064,5064,5064,5064,10207,Osteolytic defect of the proximal toe phalanx,HPO,phenotype,PHENOTYPE_5064
5065,5065,5065,5065,5065,5065,5065,5065,25801,Nail elevation,HPO,phenotype,PHENOTYPE_5065
5066,5066,5066,5066,5066,5066,5066,5066,33688,Long term memory impairment,HPO,phenotype,PHENOTYPE_5066
5067,5067,5067,5067,5067,5067,5067,5067,4417,Intermittent claudication,HPO,phenotype,PHENOTYPE_5067
5068,5068,5068,5068,5068,5068,5068,5068,25565,Anterior chamber cells grade 3+,HPO,phenotype,PHENOTYPE_5068
5069,5069,5069,5069,5069,5069,5069,5069,25390,Reticular pattern on pulmonary HRCT,HPO,phenotype,PHENOTYPE_5069
5070,5070,5070,5070,5070,5070,5070,5070,4552,Scarring alopecia of scalp,HPO,phenotype,PHENOTYPE_5070
5071,5071,5071,5071,5071,5071,5071,5071,33933,Arcuate artery intima/media liquefactive necrosis,HPO,phenotype,PHENOTYPE_5071
5072,5072,5072,5072,5072,5072,5072,5072,100896,Rectal polyposis,HPO,phenotype,PHENOTYPE_5072
5073,5073,5073,5073,5073,5073,5073,5073,430043,Thoracic lordosis,HPO,phenotype,PHENOTYPE_5073
5074,5074,5074,5074,5074,5074,5074,5074,30987,Suppurative cholangitis,HPO,phenotype,PHENOTYPE_5074
5075,5075,5075,5075,5075,5075,5075,5075,34772,Decreased skull base length,HPO,phenotype,PHENOTYPE_5075
5076,5076,5076,5076,5076,5076,5076,5076,1404,Hepatocellular necrosis,HPO,phenotype,PHENOTYPE_5076
5077,5077,5077,5077,5077,5077,5077,5077,40118,Stenosis of the Eustachian tube,HPO,phenotype,PHENOTYPE_5077
5078,5078,5078,5078,5078,5078,5078,5078,12463,Elevated transferrin saturation,HPO,phenotype,PHENOTYPE_5078
5079,5079,5079,5079,5079,5079,5079,5079,7078,Decreased amplitude of sensory action potentials,HPO,phenotype,PHENOTYPE_5079
5080,5080,5080,5080,5080,5080,5080,5080,33412,Upper extremity akinesia,HPO,phenotype,PHENOTYPE_5080
5081,5081,5081,5081,5081,5081,5081,5081,34959,Bent sperm neck,HPO,phenotype,PHENOTYPE_5081
5082,5082,5082,5082,5082,5082,5082,5082,6000043,Rhythmic movements of the tympanic membrane,HPO,phenotype,PHENOTYPE_5082
5083,5083,5083,5083,5083,5083,5083,5083,10288,Abnormality of the sublingual glands,HPO,phenotype,PHENOTYPE_5083
5084,5084,5084,5084,5084,5084,5084,5084,31237,Internally nucleated skeletal muscle fibers,HPO,phenotype,PHENOTYPE_5084
5085,5085,5085,5085,5085,5085,5085,5085,6315,Solitary median maxillary central incisor,HPO,phenotype,PHENOTYPE_5085
5086,5086,5086,5086,5086,5086,5086,5086,31250,Lip fissure,HPO,phenotype,PHENOTYPE_5086
5087,5087,5087,5087,5087,5087,5087,5087,31812,Nitrituria,HPO,phenotype,PHENOTYPE_5087
5088,5088,5088,5088,5088,5088,5088,5088,31705,Compensatory head posture,HPO,phenotype,PHENOTYPE_5088
5089,5089,5089,5089,5089,5089,5089,5089,34119,Anti-GD1a IgG antibody positivity,HPO,phenotype,PHENOTYPE_5089
5090,5090,5090,5090,5090,5090,5090,5090,11053,Agenesis of mandibular premolar,HPO,phenotype,PHENOTYPE_5090
5091,5091,5091,5091,5091,5091,5091,5091,25085,Bloody diarrhea,HPO,phenotype,PHENOTYPE_5091
5092,5092,5092,5092,5092,5092,5092,5092,7058,Generalized cerebral atrophy/hypoplasia,HPO,phenotype,PHENOTYPE_5092
5093,5093,5093,5093,5093,5093,5093,5093,33735,Grade I vesicoureteral reflux,HPO,phenotype,PHENOTYPE_5093
5094,5094,5094,5094,5094,5094,5094,5094,31764,Fully accomodative esotropia,HPO,phenotype,PHENOTYPE_5094
5095,5095,5095,5095,5095,5095,5095,5095,31983,Abnormal pulmonary thoracic imaging finding,HPO,phenotype,PHENOTYPE_5095
5096,5096,5096,5096,5096,5096,5096,5096,9136,Duplication involving bones of the feet,HPO,phenotype,PHENOTYPE_5096
5097,5097,5097,5097,5097,5097,5097,5097,5048,Synostosis of carpal bones,HPO,phenotype,PHENOTYPE_5097
5098,5098,5098,5098,5098,5098,5098,5098,410247,Increased anti-animal dander IgE antibody level,HPO,phenotype,PHENOTYPE_5098
5099,5099,5099,5099,5099,5099,5099,5099,8477,Poorly ossified cervical vertebrae,HPO,phenotype,PHENOTYPE_5099
5100,5100,5100,5100,5100,5100,5100,5100,30911,Bifid clitoris,HPO,phenotype,PHENOTYPE_5100
5101,5101,5101,5101,5101,5101,5101,5101,25359,Polygonal renal calices,HPO,phenotype,PHENOTYPE_5101
5102,5102,5102,5102,5102,5102,5102,5102,33310,Osmotic diarrhea,HPO,phenotype,PHENOTYPE_5102
5103,5103,5103,5103,5103,5103,5103,5103,11088,Dens in dente,HPO,phenotype,PHENOTYPE_5103
5104,5104,5104,5104,5104,5104,5104,5104,34367,Decreased circulating beta-mannosidase activity,HPO,phenotype,PHENOTYPE_5104
5105,5105,5105,5105,5105,5105,5105,5105,12692,Focal T2 hyperintense thalamic lesion,HPO,phenotype,PHENOTYPE_5105
5106,5106,5106,5106,5106,5106,5106,5106,11688,Supraventricular tachycardia with an accessory connection mediated pathway,HPO,phenotype,PHENOTYPE_5106
5107,5107,5107,5107,5107,5107,5107,5107,33483,Podocyte infolding,HPO,phenotype,PHENOTYPE_5107
5108,5108,5108,5108,5108,5108,5108,5108,30155,Scrotal pain,HPO,phenotype,PHENOTYPE_5108
5109,5109,5109,5109,5109,5109,5109,5109,100961,Enlarged hippocampus,HPO,phenotype,PHENOTYPE_5109
5110,5110,5110,5110,5110,5110,5110,5110,8347,Decreased activity of mitochondrial complex IV,HPO,phenotype,PHENOTYPE_5110
5111,5111,5111,5111,5111,5111,5111,5111,11818,Nasofrontal encephalocele,HPO,phenotype,PHENOTYPE_5111
5112,5112,5112,5112,5112,5112,5112,5112,100656,Thoracoabdominal wall defect,HPO,phenotype,PHENOTYPE_5112
5113,5113,5113,5113,5113,5113,5113,5113,32704,Focal aware cognitive seizure with illusion,HPO,phenotype,PHENOTYPE_5113
5114,5114,5114,5114,5114,5114,5114,5114,9134,Osteolysis involving bones of the feet,HPO,phenotype,PHENOTYPE_5114
5115,5115,5115,5115,5115,5115,5115,5115,10504,Increased length of the tibia,HPO,phenotype,PHENOTYPE_5115
5116,5116,5116,5116,5116,5116,5116,5116,25429,Abnormal cry,HPO,phenotype,PHENOTYPE_5116
5117,5117,5117,5117,5117,5117,5117,5117,2389,Cavum septum pellucidum,HPO,phenotype,PHENOTYPE_5117
5118,5118,5118,5118,5118,5118,5118,5118,10385,Bullet-shaped 5th toe phalanx,HPO,phenotype,PHENOTYPE_5118
5119,5119,5119,5119,5119,5119,5119,5119,30165,Temporal artery tortuosity,HPO,phenotype,PHENOTYPE_5119
5120,5120,5120,5120,5120,5120,5120,5120,100779,Urogenital sinus anomaly,HPO,phenotype,PHENOTYPE_5120
5121,5121,5121,5121,5121,5121,5121,5121,31836,Increased circulating superoxide dismutase concentration,HPO,phenotype,PHENOTYPE_5121
5122,5122,5122,5122,5122,5122,5122,5122,11293,EEG with central sharp waves,HPO,phenotype,PHENOTYPE_5122
5123,5123,5123,5123,5123,5123,5123,5123,1105,Retinal atrophy,HPO,phenotype,PHENOTYPE_5123
5124,5124,5124,5124,5124,5124,5124,5124,11747,Abnormality of the anterior pituitary,HPO,phenotype,PHENOTYPE_5124
5125,5125,5125,5125,5125,5125,5125,5125,6001152,Pain exacerbated by wrist deviation,HPO,phenotype,PHENOTYPE_5125
5126,5126,5126,5126,5126,5126,5126,5126,33374,Decreased KCO,HPO,phenotype,PHENOTYPE_5126
5127,5127,5127,5127,5127,5127,5127,5127,1947,Renal tubular acidosis,HPO,phenotype,PHENOTYPE_5127
5128,5128,5128,5128,5128,5128,5128,5128,200048,Cyanotic episode,HPO,phenotype,PHENOTYPE_5128
5129,5129,5129,5129,5129,5129,5129,5129,100355,Contractures of the distal interphalangeal joint of the 5th toe,HPO,phenotype,PHENOTYPE_5129
5130,5130,5130,5130,5130,5130,5130,5130,30045,Serpentine fibula,HPO,phenotype,PHENOTYPE_5130
5131,5131,5131,5131,5131,5131,5131,5131,12547,Abnormal involuntary eye movements,HPO,phenotype,PHENOTYPE_5131
5132,5132,5132,5132,5132,5132,5132,5132,6481,Abnormality of primary teeth,HPO,phenotype,PHENOTYPE_5132
5133,5133,5133,5133,5133,5133,5133,5133,500034,Nasolacrimal sac obstruction,HPO,phenotype,PHENOTYPE_5133
5134,5134,5134,5134,5134,5134,5134,5134,7545,Congenital palmoplantar hyperkeratosis,HPO,phenotype,PHENOTYPE_5134
5135,5135,5135,5135,5135,5135,5135,5135,2928,Decreased activity of the pyruvate dehydrogenase complex,HPO,phenotype,PHENOTYPE_5135
5136,5136,5136,5136,5136,5136,5136,5136,11935,Decreased urinary urate,HPO,phenotype,PHENOTYPE_5136
5137,5137,5137,5137,5137,5137,5137,5137,7417,Discoid lupus rash,HPO,phenotype,PHENOTYPE_5137
5138,5138,5138,5138,5138,5138,5138,5138,11433,High maternal circulating chorionic gonadotropin concentration,HPO,phenotype,PHENOTYPE_5138
5139,5139,5139,5139,5139,5139,5139,5139,11656,Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis,HPO,phenotype,PHENOTYPE_5139
5140,5140,5140,5140,5140,5140,5140,5140,4924,Abnormal oral glucose tolerance,HPO,phenotype,PHENOTYPE_5140
5141,5141,5141,5141,5141,5141,5141,5141,6552,Fibrocystic lung disease,HPO,phenotype,PHENOTYPE_5141
5142,5142,5142,5142,5142,5142,5142,5142,7992,Lattice retinal degeneration,HPO,phenotype,PHENOTYPE_5142
5143,5143,5143,5143,5143,5143,5143,5143,33672,Positive carpal Tinel sign,HPO,phenotype,PHENOTYPE_5143
5144,5144,5144,5144,5144,5144,5144,5144,34309,Multiflagellar spermatozoa,HPO,phenotype,PHENOTYPE_5144
5145,5145,5145,5145,5145,5145,5145,5145,12528,Abnormal number of alpha granules,HPO,phenotype,PHENOTYPE_5145
5146,5146,5146,5146,5146,5146,5146,5146,9804,Tooth agenesis,HPO,phenotype,PHENOTYPE_5146
5147,5147,5147,5147,5147,5147,5147,5147,8244,Congenital adrenal hypoplasia,HPO,phenotype,PHENOTYPE_5147
5148,5148,5148,5148,5148,5148,5148,5148,3722,Neck flexor weakness,HPO,phenotype,PHENOTYPE_5148
5149,5149,5149,5149,5149,5149,5149,5149,100427,Broad middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_5149
5150,5150,5150,5150,5150,5150,5150,5150,410178,Increased glucose-6-phosphate dehydrogenase level in blood,HPO,phenotype,PHENOTYPE_5150
5151,5151,5151,5151,5151,5151,5151,5151,33806,Abnormal epidermis stratum granulosum morphology,HPO,phenotype,PHENOTYPE_5151
5152,5152,5152,5152,5152,5152,5152,5152,11008,Temporal pattern,HPO,phenotype,PHENOTYPE_5152
5153,5153,5153,5153,5153,5153,5153,5153,30065,Primitive neuroectodermal tumor,HPO,phenotype,PHENOTYPE_5153
5154,5154,5154,5154,5154,5154,5154,5154,1654,Abnormal heart valve morphology,HPO,phenotype,PHENOTYPE_5154
5155,5155,5155,5155,5155,5155,5155,5155,10127,Absent epiphysis of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_5155
5156,5156,5156,5156,5156,5156,5156,5156,33562,Anti-glycoprotein-210 antibody positivity,HPO,phenotype,PHENOTYPE_5156
5157,5157,5157,5157,5157,5157,5157,5157,3658,Hypomethioninemia,HPO,phenotype,PHENOTYPE_5157
5158,5158,5158,5158,5158,5158,5158,5158,20233,Abnormal lymph-node cellular antigen expression,HPO,phenotype,PHENOTYPE_5158
5159,5159,5159,5159,5159,5159,5159,5159,100819,Intestinal fistula,HPO,phenotype,PHENOTYPE_5159
5160,5160,5160,5160,5160,5160,5160,5160,6000246,Elevated CSF D-2-hydroxyglutaric acid concentration,HPO,phenotype,PHENOTYPE_5160
5161,5161,5161,5161,5161,5161,5161,5161,8513,Bilateral conductive hearing impairment,HPO,phenotype,PHENOTYPE_5161
5162,5162,5162,5162,5162,5162,5162,5162,32021,Eosinophilic liver infiltration,HPO,phenotype,PHENOTYPE_5162
5163,5163,5163,5163,5163,5163,5163,5163,2031,Abnormal esophagus morphology,HPO,phenotype,PHENOTYPE_5163
5164,5164,5164,5164,5164,5164,5164,5164,40034,Abnormality of the second metatarsal bone,HPO,phenotype,PHENOTYPE_5164
5165,5165,5165,5165,5165,5165,5165,5165,12153,Hypotriglyceridemia,HPO,phenotype,PHENOTYPE_5165
5166,5166,5166,5166,5166,5166,5166,5166,2992,Abnormal tibia morphology,HPO,phenotype,PHENOTYPE_5166
5167,5167,5167,5167,5167,5167,5167,5167,8835,Multicentric femoral head ossification,HPO,phenotype,PHENOTYPE_5167
5168,5168,5168,5168,5168,5168,5168,5168,3884,Triangular humerus,HPO,phenotype,PHENOTYPE_5168
5169,5169,5169,5169,5169,5169,5169,5169,31336,Intranuclear cardiomyocyte mitochondria,HPO,phenotype,PHENOTYPE_5169
5170,5170,5170,5170,5170,5170,5170,5170,200022,Choroid plexus papilloma,HPO,phenotype,PHENOTYPE_5170
5171,5171,5171,5171,5171,5171,5171,5171,500088,Foveal depigmentation,HPO,phenotype,PHENOTYPE_5171
5172,5172,5172,5172,5172,5172,5172,5172,11411,Forceps delivery,HPO,phenotype,PHENOTYPE_5172
5173,5173,5173,5173,5173,5173,5173,5173,32646,Renal interstitial xanthogranulomatous inflammation,HPO,phenotype,PHENOTYPE_5173
5174,5174,5174,5174,5174,5174,5174,5174,20244,Colonization of follicles by lymphoma cells,HPO,phenotype,PHENOTYPE_5174
5175,5175,5175,5175,5175,5175,5175,5175,25476,Testicular lipomatosis,HPO,phenotype,PHENOTYPE_5175
5176,5176,5176,5176,5176,5176,5176,5176,5200021,Reduced social insight,HPO,phenotype,PHENOTYPE_5176
5177,5177,5177,5177,5177,5177,5177,5177,11181,Low voltage EEG,HPO,phenotype,PHENOTYPE_5177
5178,5178,5178,5178,5178,5178,5178,5178,100593,Calcification of cartilage,HPO,phenotype,PHENOTYPE_5178
5179,5179,5179,5179,5179,5179,5179,5179,5000000,Anti-AK5 antibody positivity,HPO,phenotype,PHENOTYPE_5179
5180,5180,5180,5180,5180,5180,5180,5180,5132,Pericardial constriction,HPO,phenotype,PHENOTYPE_5180
5181,5181,5181,5181,5181,5181,5181,5181,6000257,Spinal cord granuloma,HPO,phenotype,PHENOTYPE_5181
5182,5182,5182,5182,5182,5182,5182,5182,6000901,Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay,HPO,phenotype,PHENOTYPE_5182
5183,5183,5183,5183,5183,5183,5183,5183,62,Ambiguous genitalia,HPO,phenotype,PHENOTYPE_5183
5184,5184,5184,5184,5184,5184,5184,5184,11903,HbH hemoglobin,HPO,phenotype,PHENOTYPE_5184
5185,5185,5185,5185,5185,5185,5185,5185,33820,Apical,HPO,phenotype,PHENOTYPE_5185
5186,5186,5186,5186,5186,5186,5186,5186,11470,Nasogastric tube feeding in infancy,HPO,phenotype,PHENOTYPE_5186
5187,5187,5187,5187,5187,5187,5187,5187,25685,Increased amyloid beta 42 peptide CSF concentration,HPO,phenotype,PHENOTYPE_5187
5188,5188,5188,5188,5188,5188,5188,5188,6000621,Elevated urinary N-tau-ribosylhistidine level,HPO,phenotype,PHENOTYPE_5188
5189,5189,5189,5189,5189,5189,5189,5189,9398,Irregular epiphyses of the 4th finger,HPO,phenotype,PHENOTYPE_5189
5190,5190,5190,5190,5190,5190,5190,5190,31521,Vaginal clear cell adenocarcinoma,HPO,phenotype,PHENOTYPE_5190
5191,5191,5191,5191,5191,5191,5191,5191,12486,Myelitis,HPO,phenotype,PHENOTYPE_5191
5192,5192,5192,5192,5192,5192,5192,5192,430119,Nasal secretion eosinophilia,HPO,phenotype,PHENOTYPE_5192
5193,5193,5193,5193,5193,5193,5193,5193,6494,Aplasia/Hypoplasia involving bones of the feet,HPO,phenotype,PHENOTYPE_5193
5194,5194,5194,5194,5194,5194,5194,5194,30292,Tibial metaphyseal irregularity,HPO,phenotype,PHENOTYPE_5194
5195,5195,5195,5195,5195,5195,5195,5195,10101,Partial duplication of the phalanges of the hallux,HPO,phenotype,PHENOTYPE_5195
5196,5196,5196,5196,5196,5196,5196,5196,6533,Bronchodysplasia,HPO,phenotype,PHENOTYPE_5196
5197,5197,5197,5197,5197,5197,5197,5197,100558,Hemiatrophy of upper limb,HPO,phenotype,PHENOTYPE_5197
5198,5198,5198,5198,5198,5198,5198,5198,12100,Abnormal circulating creatinine concentration,HPO,phenotype,PHENOTYPE_5198
5199,5199,5199,5199,5199,5199,5199,5199,6751,Paraspinal neurofibroma,HPO,phenotype,PHENOTYPE_5199
5200,5200,5200,5200,5200,5200,5200,5200,5000031,Anti-Septin-5 antibody,HPO,phenotype,PHENOTYPE_5200
5201,5201,5201,5201,5201,5201,5201,5201,6000214,Decreased 3-hydroxyisobutyrate dehydrogenase activity,HPO,phenotype,PHENOTYPE_5201
5202,5202,5202,5202,5202,5202,5202,5202,31739,Abnormal oblique muscle physiology,HPO,phenotype,PHENOTYPE_5202
5203,5203,5203,5203,5203,5203,5203,5203,34146,Anti-glycyl tRNA-synthetase antibody positivity,HPO,phenotype,PHENOTYPE_5203
5204,5204,5204,5204,5204,5204,5204,5204,34376,Atrioventricular valve regurgitation,HPO,phenotype,PHENOTYPE_5204
5205,5205,5205,5205,5205,5205,5205,5205,10213,Contracture of the tarsometatarsal joint of the hallux,HPO,phenotype,PHENOTYPE_5205
5206,5206,5206,5206,5206,5206,5206,5206,727,Frontal lobe dementia,HPO,phenotype,PHENOTYPE_5206
5207,5207,5207,5207,5207,5207,5207,5207,10597,Abnormality of the distal radial epiphysis,HPO,phenotype,PHENOTYPE_5207
5208,5208,5208,5208,5208,5208,5208,5208,11376,Abnormal morphology of the vestibule of the inner ear,HPO,phenotype,PHENOTYPE_5208
5209,5209,5209,5209,5209,5209,5209,5209,30169,Gastric varix,HPO,phenotype,PHENOTYPE_5209
5210,5210,5210,5210,5210,5210,5210,5210,6684,Ventricular preexcitation with multiple accessory pathways,HPO,phenotype,PHENOTYPE_5210
5211,5211,5211,5211,5211,5211,5211,5211,33692,Declarative memory loss,HPO,phenotype,PHENOTYPE_5211
5212,5212,5212,5212,5212,5212,5212,5212,25154,Portosystemic collateral veins,HPO,phenotype,PHENOTYPE_5212
5213,5213,5213,5213,5213,5213,5213,5213,5522,Pyridoxine-responsive sideroblastic anemia,HPO,phenotype,PHENOTYPE_5213
5214,5214,5214,5214,5214,5214,5214,5214,10952,Mild fetal ventriculomegaly,HPO,phenotype,PHENOTYPE_5214
5215,5215,5215,5215,5215,5215,5215,5215,8442,Vertebral hyperostosis,HPO,phenotype,PHENOTYPE_5215
5216,5216,5216,5216,5216,5216,5216,5216,25078,Electrical alternans,HPO,phenotype,PHENOTYPE_5216
5217,5217,5217,5217,5217,5217,5217,5217,100043,Broad 5th toe,HPO,phenotype,PHENOTYPE_5217
5218,5218,5218,5218,5218,5218,5218,5218,32880,Focal impaired awareness sensory seizure with auditory features,HPO,phenotype,PHENOTYPE_5218
5219,5219,5219,5219,5219,5219,5219,5219,10302,Spinal cord tumor,HPO,phenotype,PHENOTYPE_5219
5220,5220,5220,5220,5220,5220,5220,5220,40257,Abnormal size of nasopharyngeal adenoids,HPO,phenotype,PHENOTYPE_5220
5221,5221,5221,5221,5221,5221,5221,5221,30145,Lack of bowel sounds,HPO,phenotype,PHENOTYPE_5221
5222,5222,5222,5222,5222,5222,5222,5222,33382,Elevated circulating palmitoylcarnitine concentration,HPO,phenotype,PHENOTYPE_5222
5223,5223,5223,5223,5223,5223,5223,5223,5200003,Excessive interest in others,HPO,phenotype,PHENOTYPE_5223
5224,5224,5224,5224,5224,5224,5224,5224,12505,Enlarged pituitary gland,HPO,phenotype,PHENOTYPE_5224
5225,5225,5225,5225,5225,5225,5225,5225,34449,Increased phytanic acid:pristanic acid ratio,HPO,phenotype,PHENOTYPE_5225
5226,5226,5226,5226,5226,5226,5226,5226,8767,Self-mutilation of tongue and lips due to involuntary movements,HPO,phenotype,PHENOTYPE_5226
5227,5227,5227,5227,5227,5227,5227,5227,1231,Abnormal fingernail morphology,HPO,phenotype,PHENOTYPE_5227
5228,5228,5228,5228,5228,5228,5228,5228,34732,Exercise-triggered malignant hyperthermia,HPO,phenotype,PHENOTYPE_5228
5229,5229,5229,5229,5229,5229,5229,5229,34535,Ameliorated by acetazolamide,HPO,phenotype,PHENOTYPE_5229
5230,5230,5230,5230,5230,5230,5230,5230,1215,Camptodactyly of 2nd-5th fingers,HPO,phenotype,PHENOTYPE_5230
5231,5231,5231,5231,5231,5231,5231,5231,9555,Hypoplasia of the pharynx,HPO,phenotype,PHENOTYPE_5231
5232,5232,5232,5232,5232,5232,5232,5232,10922,Membranous cataract,HPO,phenotype,PHENOTYPE_5232
5233,5233,5233,5233,5233,5233,5233,5233,9381,Short finger,HPO,phenotype,PHENOTYPE_5233
5234,5234,5234,5234,5234,5234,5234,5234,7308,Extrapyramidal dyskinesia,HPO,phenotype,PHENOTYPE_5234
5235,5235,5235,5235,5235,5235,5235,5235,8213,Gonadotropin deficiency,HPO,phenotype,PHENOTYPE_5235
5236,5236,5236,5236,5236,5236,5236,5236,34739,Elevated CSF sarcosine concentration,HPO,phenotype,PHENOTYPE_5236
5237,5237,5237,5237,5237,5237,5237,5237,100350,Contracture of the proximal interphalangeal joint of the 4th toe,HPO,phenotype,PHENOTYPE_5237
5238,5238,5238,5238,5238,5238,5238,5238,30616,Foveal retinal pigment epithelial loss on macular OCT,HPO,phenotype,PHENOTYPE_5238
5239,5239,5239,5239,5239,5239,5239,5239,25384,Diet-resistant subcutaneous adipose tissue,HPO,phenotype,PHENOTYPE_5239
5240,5240,5240,5240,5240,5240,5240,5240,3945,Irregular articular surfaces of the elbow joints,HPO,phenotype,PHENOTYPE_5240
5241,5241,5241,5241,5241,5241,5241,5241,6000687,Elevated circulating CCL3 concentration,HPO,phenotype,PHENOTYPE_5241
5242,5242,5242,5242,5242,5242,5242,5242,6001109,Palmoplantar location,HPO,phenotype,PHENOTYPE_5242
5243,5243,5243,5243,5243,5243,5243,5243,9456,Triangular shaped proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_5243
5244,5244,5244,5244,5244,5244,5244,5244,31656,Systolic anterior motion of the mitral valve,HPO,phenotype,PHENOTYPE_5244
5245,5245,5245,5245,5245,5245,5245,5245,34400,Circumferential skin creases on extremities,HPO,phenotype,PHENOTYPE_5245
5246,5246,5246,5246,5246,5246,5246,5246,5747,Easily subluxated first metacarpophalangeal joints,HPO,phenotype,PHENOTYPE_5246
5247,5247,5247,5247,5247,5247,5247,5247,8198,Congenital hypoparathyroidism,HPO,phenotype,PHENOTYPE_5247
5248,5248,5248,5248,5248,5248,5248,5248,32821,Neonatal electro-clinical tonic seizure,HPO,phenotype,PHENOTYPE_5248
5249,5249,5249,5249,5249,5249,5249,5249,555,Leukocoria,HPO,phenotype,PHENOTYPE_5249
5250,5250,5250,5250,5250,5250,5250,5250,6522,Repeated pneumothoraces,HPO,phenotype,PHENOTYPE_5250
5251,5251,5251,5251,5251,5251,5251,5251,6000252,Fetal lung hyperechogenicity,HPO,phenotype,PHENOTYPE_5251
5252,5252,5252,5252,5252,5252,5252,5252,100151,Irregular epiphysis of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_5252
5253,5253,5253,5253,5253,5253,5253,5253,12649,Increased inflammatory response,HPO,phenotype,PHENOTYPE_5253
5254,5254,5254,5254,5254,5254,5254,5254,30861,Decreased CSF amyloid concentration,HPO,phenotype,PHENOTYPE_5254
5255,5255,5255,5255,5255,5255,5255,5255,12577,Thin glomerular basement membrane,HPO,phenotype,PHENOTYPE_5255
5256,5256,5256,5256,5256,5256,5256,5256,765,Abnormal thorax morphology,HPO,phenotype,PHENOTYPE_5256
5257,5257,5257,5257,5257,5257,5257,5257,430121,Seminal vesicle agenesis,HPO,phenotype,PHENOTYPE_5257
5258,5258,5258,5258,5258,5258,5258,5258,291,Abnormality of facial adipose tissue,HPO,phenotype,PHENOTYPE_5258
5259,5259,5259,5259,5259,5259,5259,5259,10747,Medial flaring of the eyebrow,HPO,phenotype,PHENOTYPE_5259
5260,5260,5260,5260,5260,5260,5260,5260,11142,Age-related nuclear cataract,HPO,phenotype,PHENOTYPE_5260
5261,5261,5261,5261,5261,5261,5261,5261,410069,Increased level of propylene glycol in blood,HPO,phenotype,PHENOTYPE_5261
5262,5262,5262,5262,5262,5262,5262,5262,30101,Absent muscle fiber alpha sarcoglycan,HPO,phenotype,PHENOTYPE_5262
5263,5263,5263,5263,5263,5263,5263,5263,11860,Metaphyseal dappling,HPO,phenotype,PHENOTYPE_5263
5264,5264,5264,5264,5264,5264,5264,5264,11276,Vascular skin abnormality,HPO,phenotype,PHENOTYPE_5264
5265,5265,5265,5265,5265,5265,5265,5265,5599,Hypopigmentation of hair,HPO,phenotype,PHENOTYPE_5265
5266,5266,5266,5266,5266,5266,5266,5266,25593,Superior oblique muscle restriction,HPO,phenotype,PHENOTYPE_5266
5267,5267,5267,5267,5267,5267,5267,5267,12888,Abnormal uterine cervix morphology,HPO,phenotype,PHENOTYPE_5267
5268,5268,5268,5268,5268,5268,5268,5268,31078,Impaired cortisol response to corticotropin releasing hormone stimulation test,HPO,phenotype,PHENOTYPE_5268
5269,5269,5269,5269,5269,5269,5269,5269,31034,Abnormal insulin like growth factor binding protein acid labile subunit level,HPO,phenotype,PHENOTYPE_5269
5270,5270,5270,5270,5270,5270,5270,5270,30376,Abnormal proportion of immature B cells,HPO,phenotype,PHENOTYPE_5270
5271,5271,5271,5271,5271,5271,5271,5271,9711,Retinal capillary hemangioma,HPO,phenotype,PHENOTYPE_5271
5272,5272,5272,5272,5272,5272,5272,5272,11999,Paranoia,HPO,phenotype,PHENOTYPE_5272
5273,5273,5273,5273,5273,5273,5273,5273,4000081,Reduced production of gestures,HPO,phenotype,PHENOTYPE_5273
5274,5274,5274,5274,5274,5274,5274,5274,4097,Deviation of finger,HPO,phenotype,PHENOTYPE_5274
5275,5275,5275,5275,5275,5275,5275,5275,11176,EEG with constitutional variants,HPO,phenotype,PHENOTYPE_5275
5276,5276,5276,5276,5276,5276,5276,5276,6990,Myelin-dependent gliosis,HPO,phenotype,PHENOTYPE_5276
5277,5277,5277,5277,5277,5277,5277,5277,6000595,Mandibular cyst,HPO,phenotype,PHENOTYPE_5277
5278,5278,5278,5278,5278,5278,5278,5278,25576,Abnormal inferior vena cava morphology,HPO,phenotype,PHENOTYPE_5278
5279,5279,5279,5279,5279,5279,5279,5279,410058,Increased CSF D-threitol concentration,HPO,phenotype,PHENOTYPE_5279
5280,5280,5280,5280,5280,5280,5280,5280,12853,Scrotal hypospadias,HPO,phenotype,PHENOTYPE_5280
5281,5281,5281,5281,5281,5281,5281,5281,33085,Reduced antral follicle count,HPO,phenotype,PHENOTYPE_5281
5282,5282,5282,5282,5282,5282,5282,5282,5000006,Anti-CV2/CRMP5 antibody positivity,HPO,phenotype,PHENOTYPE_5282
5283,5283,5283,5283,5283,5283,5283,5283,4172,Abnormality of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_5283
5284,5284,5284,5284,5284,5284,5284,5284,6001057,Ankle dislocation,HPO,phenotype,PHENOTYPE_5284
5285,5285,5285,5285,5285,5285,5285,5285,6000664,Right ventricular regional wall motion abnormality,HPO,phenotype,PHENOTYPE_5285
5286,5286,5286,5286,5286,5286,5286,5286,410235,Increased anti-insect IgE antibody level,HPO,phenotype,PHENOTYPE_5286
5287,5287,5287,5287,5287,5287,5287,5287,500258,Abnormal carbon dioxide level in cord blood,HPO,phenotype,PHENOTYPE_5287
5288,5288,5288,5288,5288,5288,5288,5288,5200332,Addictive non-substance behaviors,HPO,phenotype,PHENOTYPE_5288
5289,5289,5289,5289,5289,5289,5289,5289,9192,Aplasia/Hypoplasia of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_5289
5290,5290,5290,5290,5290,5290,5290,5290,3011,Abnormality of the musculature,HPO,phenotype,PHENOTYPE_5290
5291,5291,5291,5291,5291,5291,5291,5291,30100,Abnormal muscle fiber alpha sarcoglycan,HPO,phenotype,PHENOTYPE_5291
5292,5292,5292,5292,5292,5292,5292,5292,4000173,History of previous pregnancy with hydrops fetalis,HPO,phenotype,PHENOTYPE_5292
5293,5293,5293,5293,5293,5293,5293,5293,34526,Abnormal enzyme activity in muscle tissue,HPO,phenotype,PHENOTYPE_5293
5294,5294,5294,5294,5294,5294,5294,5294,33842,Early satiety,HPO,phenotype,PHENOTYPE_5294
5295,5295,5295,5295,5295,5295,5295,5295,100154,Small epiphysis of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_5295
5296,5296,5296,5296,5296,5296,5296,5296,100418,Partial duplication of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_5296
5297,5297,5297,5297,5297,5297,5297,5297,34166,Increased circulating interleukin 21 concentration,HPO,phenotype,PHENOTYPE_5297
5298,5298,5298,5298,5298,5298,5298,5298,100641,Neoplasm of the adrenal cortex,HPO,phenotype,PHENOTYPE_5298
5299,5299,5299,5299,5299,5299,5299,5299,34600,Elevated circulating thrombopoietin concentration,HPO,phenotype,PHENOTYPE_5299
5300,5300,5300,5300,5300,5300,5300,5300,5050,Anterolateral radial head dislocation,HPO,phenotype,PHENOTYPE_5300
5301,5301,5301,5301,5301,5301,5301,5301,2054,Heavy supraorbital ridges,HPO,phenotype,PHENOTYPE_5301
5302,5302,5302,5302,5302,5302,5302,5302,8176,Neonatal unconjugated hyperbilirubinemia,HPO,phenotype,PHENOTYPE_5302
5303,5303,5303,5303,5303,5303,5303,5303,11448,Ankle clonus,HPO,phenotype,PHENOTYPE_5303
5304,5304,5304,5304,5304,5304,5304,5304,4452,Abnormality of the middle ear ossicles,HPO,phenotype,PHENOTYPE_5304
5305,5305,5305,5305,5305,5305,5305,5305,200016,Acrokeratosis,HPO,phenotype,PHENOTYPE_5305
5306,5306,5306,5306,5306,5306,5306,5306,9657,Triangular shaped thumb phalanx,HPO,phenotype,PHENOTYPE_5306
5307,5307,5307,5307,5307,5307,5307,5307,11380,Abnormal semicircular canal morphology,HPO,phenotype,PHENOTYPE_5307
5308,5308,5308,5308,5308,5308,5308,5308,45041,Reduced circulating lactate dehydrogenase concentration,HPO,phenotype,PHENOTYPE_5308
5309,5309,5309,5309,5309,5309,5309,5309,34072,Abnormal fetal long-bone echogenicity,HPO,phenotype,PHENOTYPE_5309
5310,5310,5310,5310,5310,5310,5310,5310,32941,Intense psychological distress to cues,HPO,phenotype,PHENOTYPE_5310
5311,5311,5311,5311,5311,5311,5311,5311,30058,Sickled erythrocytes,HPO,phenotype,PHENOTYPE_5311
5312,5312,5312,5312,5312,5312,5312,5312,10844,EEG with multifocal slow activity,HPO,phenotype,PHENOTYPE_5312
5313,5313,5313,5313,5313,5313,5313,5313,3366,Abnormal femoral neck/head morphology,HPO,phenotype,PHENOTYPE_5313
5314,5314,5314,5314,5314,5314,5314,5314,30708,Myeloschisis,HPO,phenotype,PHENOTYPE_5314
5315,5315,5315,5315,5315,5315,5315,5315,40312,Temporomandibular arthritis,HPO,phenotype,PHENOTYPE_5315
5316,5316,5316,5316,5316,5316,5316,5316,5214,Intestinal obstruction,HPO,phenotype,PHENOTYPE_5316
5317,5317,5317,5317,5317,5317,5317,5317,3514,Deficiency or absence of cytochrome b(-245),HPO,phenotype,PHENOTYPE_5317
5318,5318,5318,5318,5318,5318,5318,5318,7802,Granular corneal dystrophy,HPO,phenotype,PHENOTYPE_5318
5319,5319,5319,5319,5319,5319,5319,5319,799,Renal steatosis,HPO,phenotype,PHENOTYPE_5319
5320,5320,5320,5320,5320,5320,5320,5320,6001059,Anti-DREBRIN antibody positivity,HPO,phenotype,PHENOTYPE_5320
5321,5321,5321,5321,5321,5321,5321,5321,31187,Abnormal circulating pregnenolone concentration,HPO,phenotype,PHENOTYPE_5321
5322,5322,5322,5322,5322,5322,5322,5322,410134,Physical urticaria,HPO,phenotype,PHENOTYPE_5322
5323,5323,5323,5323,5323,5323,5323,5323,33798,Impaired leukocyte adhesion,HPO,phenotype,PHENOTYPE_5323
5324,5324,5324,5324,5324,5324,5324,5324,25098,Dysgenesis of the hypothalamus,HPO,phenotype,PHENOTYPE_5324
5325,5325,5325,5325,5325,5325,5325,5325,10138,Absent epiphysis of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_5325
5326,5326,5326,5326,5326,5326,5326,5326,11423,Hyperchloremia,HPO,phenotype,PHENOTYPE_5326
5327,5327,5327,5327,5327,5327,5327,5327,32622,Tubular luminal dilatation,HPO,phenotype,PHENOTYPE_5327
5328,5328,5328,5328,5328,5328,5328,5328,11048,Agenesis of permanent mandibular central incisor,HPO,phenotype,PHENOTYPE_5328
5329,5329,5329,5329,5329,5329,5329,5329,2187,"Intellectual disability, profound",HPO,phenotype,PHENOTYPE_5329
5330,5330,5330,5330,5330,5330,5330,5330,5484,Secondary microcephaly,HPO,phenotype,PHENOTYPE_5330
5331,5331,5331,5331,5331,5331,5331,5331,3971,Broad forearm bones,HPO,phenotype,PHENOTYPE_5331
5332,5332,5332,5332,5332,5332,5332,5332,32938,Recurrent trauma-related distressing dreams,HPO,phenotype,PHENOTYPE_5332
5333,5333,5333,5333,5333,5333,5333,5333,6001000,Elevated urine malic acid level,HPO,phenotype,PHENOTYPE_5333
5334,5334,5334,5334,5334,5334,5334,5334,10345,Flexion contracture of the 5th toe,HPO,phenotype,PHENOTYPE_5334
5335,5335,5335,5335,5335,5335,5335,5335,31866,Clasp-knife sign,HPO,phenotype,PHENOTYPE_5335
5336,5336,5336,5336,5336,5336,5336,5336,5200261,Abnormal demeanor,HPO,phenotype,PHENOTYPE_5336
5337,5337,5337,5337,5337,5337,5337,5337,10331,Aplasia/Hypoplasia of the 3rd toe,HPO,phenotype,PHENOTYPE_5337
5338,5338,5338,5338,5338,5338,5338,5338,6000766,Positive CSF Tropheryma whipplei bacteria microscopy,HPO,phenotype,PHENOTYPE_5338
5339,5339,5339,5339,5339,5339,5339,5339,9967,Complete duplication of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_5339
5340,5340,5340,5340,5340,5340,5340,5340,33557,Anti-proteinase 3 antibody positivity,HPO,phenotype,PHENOTYPE_5340
5341,5341,5341,5341,5341,5341,5341,5341,31000,Vestibular saccular degeneration,HPO,phenotype,PHENOTYPE_5341
5342,5342,5342,5342,5342,5342,5342,5342,200000,Dysharmonic skeletal maturation,HPO,phenotype,PHENOTYPE_5342
5343,5343,5343,5343,5343,5343,5343,5343,9112,Aplasia of the left hemidiaphragm,HPO,phenotype,PHENOTYPE_5343
5344,5344,5344,5344,5344,5344,5344,5344,8003,Jerky ocular pursuit movements,HPO,phenotype,PHENOTYPE_5344
5345,5345,5345,5345,5345,5345,5345,5345,11672,Cardiac myxoma,HPO,phenotype,PHENOTYPE_5345
5346,5346,5346,5346,5346,5346,5346,5346,31434,Abnormal prosody,HPO,phenotype,PHENOTYPE_5346
5347,5347,5347,5347,5347,5347,5347,5347,7655,Eversion of lateral third of lower eyelids,HPO,phenotype,PHENOTYPE_5347
5348,5348,5348,5348,5348,5348,5348,5348,34543,Mycobacterium bacteremia,HPO,phenotype,PHENOTYPE_5348
5349,5349,5349,5349,5349,5349,5349,5349,4839,Pyropoikilocytosis,HPO,phenotype,PHENOTYPE_5349
5350,5350,5350,5350,5350,5350,5350,5350,33356,Elevated circulating o-phosphoserine concentration,HPO,phenotype,PHENOTYPE_5350
5351,5351,5351,5351,5351,5351,5351,5351,6000032,Autophony,HPO,phenotype,PHENOTYPE_5351
5352,5352,5352,5352,5352,5352,5352,5352,34141,Anti-SUMO-activating enzyme subunit 2 antibody positivity,HPO,phenotype,PHENOTYPE_5352
5353,5353,5353,5353,5353,5353,5353,5353,467,Neck muscle weakness,HPO,phenotype,PHENOTYPE_5353
5354,5354,5354,5354,5354,5354,5354,5354,3318,Cervical spine hypermobility,HPO,phenotype,PHENOTYPE_5354
5355,5355,5355,5355,5355,5355,5355,5355,33695,Occupational disability,HPO,phenotype,PHENOTYPE_5355
5356,5356,5356,5356,5356,5356,5356,5356,34793,Small intestinal hamartoma,HPO,phenotype,PHENOTYPE_5356
5357,5357,5357,5357,5357,5357,5357,5357,10766,Ectopic calcification,HPO,phenotype,PHENOTYPE_5357
5358,5358,5358,5358,5358,5358,5358,5358,9478,Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal,HPO,phenotype,PHENOTYPE_5358
5359,5359,5359,5359,5359,5359,5359,5359,31934,Abnormal descending aorta morphology,HPO,phenotype,PHENOTYPE_5359
5360,5360,5360,5360,5360,5360,5360,5360,4590,Hypoplastic sacrum,HPO,phenotype,PHENOTYPE_5360
5361,5361,5361,5361,5361,5361,5361,5361,5187,Progressive joint destruction,HPO,phenotype,PHENOTYPE_5361
5362,5362,5362,5362,5362,5362,5362,5362,2165,Nail pterygium,HPO,phenotype,PHENOTYPE_5362
5363,5363,5363,5363,5363,5363,5363,5363,10398,Curved proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_5363
5364,5364,5364,5364,5364,5364,5364,5364,2656,Epiphyseal dysplasia,HPO,phenotype,PHENOTYPE_5364
5365,5365,5365,5365,5365,5365,5365,5365,2983,Micromelia,HPO,phenotype,PHENOTYPE_5365
5366,5366,5366,5366,5366,5366,5366,5366,9929,Abnormal columella morphology,HPO,phenotype,PHENOTYPE_5366
5367,5367,5367,5367,5367,5367,5367,5367,33480,Hypobilirubinemia,HPO,phenotype,PHENOTYPE_5367
5368,5368,5368,5368,5368,5368,5368,5368,32169,Severe infection,HPO,phenotype,PHENOTYPE_5368
5369,5369,5369,5369,5369,5369,5369,5369,10310,Chylothorax,HPO,phenotype,PHENOTYPE_5369
5370,5370,5370,5370,5370,5370,5370,5370,10135,Small epiphysis of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_5370
5371,5371,5371,5371,5371,5371,5371,5371,11512,Hyperpigmentation of the fundus,HPO,phenotype,PHENOTYPE_5371
5372,5372,5372,5372,5372,5372,5372,5372,10560,Undulate clavicles,HPO,phenotype,PHENOTYPE_5372
5373,5373,5373,5373,5373,5373,5373,5373,34647,Synovial granuloma,HPO,phenotype,PHENOTYPE_5373
5374,5374,5374,5374,5374,5374,5374,5374,410367,Increased hepatitis A virus antibody level,HPO,phenotype,PHENOTYPE_5374
5375,5375,5375,5375,5375,5375,5375,5375,11801,Enlargement of parotid gland,HPO,phenotype,PHENOTYPE_5375
5376,5376,5376,5376,5376,5376,5376,5376,6000570,Reduced tissue thymidine phosphorylase activity,HPO,phenotype,PHENOTYPE_5376
5377,5377,5377,5377,5377,5377,5377,5377,11756,Posterior pituitary agenesis,HPO,phenotype,PHENOTYPE_5377
5378,5378,5378,5378,5378,5378,5378,5378,11622,Inlet ventricular septal defect,HPO,phenotype,PHENOTYPE_5378
5379,5379,5379,5379,5379,5379,5379,5379,6825,Pallor of dorsal columns of the spinal cord,HPO,phenotype,PHENOTYPE_5379
5380,5380,5380,5380,5380,5380,5380,5380,396,Overfolded helix,HPO,phenotype,PHENOTYPE_5380
5381,5381,5381,5381,5381,5381,5381,5381,12366,Basilar invagination,HPO,phenotype,PHENOTYPE_5381
5382,5382,5382,5382,5382,5382,5382,5382,1802,Absent toenail,HPO,phenotype,PHENOTYPE_5382
5383,5383,5383,5383,5383,5383,5383,5383,100056,Bracket epiphyses of the 3rd toe,HPO,phenotype,PHENOTYPE_5383
5384,5384,5384,5384,5384,5384,5384,5384,9962,Duplication of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_5384
5385,5385,5385,5385,5385,5385,5385,5385,248,Brachycephaly,HPO,phenotype,PHENOTYPE_5385
5386,5386,5386,5386,5386,5386,5386,5386,10954,Hypoplastic right heart,HPO,phenotype,PHENOTYPE_5386
5387,5387,5387,5387,5387,5387,5387,5387,4000059,Abnormal lung development,HPO,phenotype,PHENOTYPE_5387
5388,5388,5388,5388,5388,5388,5388,5388,25599,Inferior oblique muscle overaction,HPO,phenotype,PHENOTYPE_5388
5389,5389,5389,5389,5389,5389,5389,5389,11264,Discontinuous ascending root of helix,HPO,phenotype,PHENOTYPE_5389
5390,5390,5390,5390,5390,5390,5390,5390,2835,Aspiration,HPO,phenotype,PHENOTYPE_5390
5391,5391,5391,5391,5391,5391,5391,5391,3066,Limited knee extension,HPO,phenotype,PHENOTYPE_5391
5392,5392,5392,5392,5392,5392,5392,5392,430053,Anti-West Nile virus antibody positivity,HPO,phenotype,PHENOTYPE_5392
5393,5393,5393,5393,5393,5393,5393,5393,11586,Thoracoabdominal ectopia cordis,HPO,phenotype,PHENOTYPE_5393
5394,5394,5394,5394,5394,5394,5394,5394,34745,Elevated circulating S-sulfocysteine concentration,HPO,phenotype,PHENOTYPE_5394
5395,5395,5395,5395,5395,5395,5395,5395,32989,Delayed ability to roll over,HPO,phenotype,PHENOTYPE_5395
5396,5396,5396,5396,5396,5396,5396,5396,30556,Best corrected visual acuity 0.3 LogMAR,HPO,phenotype,PHENOTYPE_5396
5397,5397,5397,5397,5397,5397,5397,5397,32315,Areolar fullness,HPO,phenotype,PHENOTYPE_5397
5398,5398,5398,5398,5398,5398,5398,5398,10051,Deviation of the hallux,HPO,phenotype,PHENOTYPE_5398
5399,5399,5399,5399,5399,5399,5399,5399,30060,Nervous tissue neoplasm,HPO,phenotype,PHENOTYPE_5399
5400,5400,5400,5400,5400,5400,5400,5400,34861,Reduced leukocyte arylsulfatase B activity,HPO,phenotype,PHENOTYPE_5400
5401,5401,5401,5401,5401,5401,5401,5401,33567,Right axis deviation,HPO,phenotype,PHENOTYPE_5401
5402,5402,5402,5402,5402,5402,5402,5402,6000672,Ovarian cystadenoma,HPO,phenotype,PHENOTYPE_5402
5403,5403,5403,5403,5403,5403,5403,5403,1065,Striae distensae,HPO,phenotype,PHENOTYPE_5403
5404,5404,5404,5404,5404,5404,5404,5404,8463,Central vertebral hypoplasia,HPO,phenotype,PHENOTYPE_5404
5405,5405,5405,5405,5405,5405,5405,5405,3846,Wide epiphyseal plates of the upper limbs,HPO,phenotype,PHENOTYPE_5405
5406,5406,5406,5406,5406,5406,5406,5406,41248,Fractured carpal bone,HPO,phenotype,PHENOTYPE_5406
5407,5407,5407,5407,5407,5407,5407,5407,6000937,Thickened cortex of the mandible,HPO,phenotype,PHENOTYPE_5407
5408,5408,5408,5408,5408,5408,5408,5408,20280,Lymph-node Dutcher bodies,HPO,phenotype,PHENOTYPE_5408
5409,5409,5409,5409,5409,5409,5409,5409,7074,Thick corpus callosum,HPO,phenotype,PHENOTYPE_5409
5410,5410,5410,5410,5410,5410,5410,5410,1191,Abnormal carpal morphology,HPO,phenotype,PHENOTYPE_5410
5411,5411,5411,5411,5411,5411,5411,5411,32016,Abnormal sputum,HPO,phenotype,PHENOTYPE_5411
5412,5412,5412,5412,5412,5412,5412,5412,30876,Increased pulmonary capillary wedge pressure,HPO,phenotype,PHENOTYPE_5412
5413,5413,5413,5413,5413,5413,5413,5413,100638,Neoplasm of the pharynx,HPO,phenotype,PHENOTYPE_5413
5414,5414,5414,5414,5414,5414,5414,5414,12566,Premature epimetaphyseal fusion in radius,HPO,phenotype,PHENOTYPE_5414
5415,5415,5415,5415,5415,5415,5415,5415,4420,Arterial thrombosis,HPO,phenotype,PHENOTYPE_5415
5416,5416,5416,5416,5416,5416,5416,5416,3920,Sloping humeral metaphysis,HPO,phenotype,PHENOTYPE_5416
5417,5417,5417,5417,5417,5417,5417,5417,32263,Increased blood pressure,HPO,phenotype,PHENOTYPE_5417
5418,5418,5418,5418,5418,5418,5418,5418,10412,Duplication of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_5418
5419,5419,5419,5419,5419,5419,5419,5419,2234,Early balding,HPO,phenotype,PHENOTYPE_5419
5420,5420,5420,5420,5420,5420,5420,5420,7509,Patchy hypo- and hyperpigmentation,HPO,phenotype,PHENOTYPE_5420
5421,5421,5421,5421,5421,5421,5421,5421,2597,Abnormality of the vasculature,HPO,phenotype,PHENOTYPE_5421
5422,5422,5422,5422,5422,5422,5422,5422,3887,Abnormal humeral head morphology,HPO,phenotype,PHENOTYPE_5422
5423,5423,5423,5423,5423,5423,5423,5423,410184,Abnormal glucose-6-phosphate dehydrogenase level in red blood cells,HPO,phenotype,PHENOTYPE_5423
5424,5424,5424,5424,5424,5424,5424,5424,9778,Short thumb,HPO,phenotype,PHENOTYPE_5424
5425,5425,5425,5425,5425,5425,5425,5425,3044,Shoulder flexion contracture,HPO,phenotype,PHENOTYPE_5425
5426,5426,5426,5426,5426,5426,5426,5426,1718,Mitral stenosis,HPO,phenotype,PHENOTYPE_5426
5427,5427,5427,5427,5427,5427,5427,5427,7105,Infantile encephalopathy,HPO,phenotype,PHENOTYPE_5427
5428,5428,5428,5428,5428,5428,5428,5428,33505,Livedo reticularis,HPO,phenotype,PHENOTYPE_5428
5429,5429,5429,5429,5429,5429,5429,5429,5200056,Limited head nodding or shaking,HPO,phenotype,PHENOTYPE_5429
5430,5430,5430,5430,5430,5430,5430,5430,33881,Arcuate vein intimal/medial myxomatous degeneration,HPO,phenotype,PHENOTYPE_5430
5431,5431,5431,5431,5431,5431,5431,5431,34590,Abnormal circulating thyroxine-binding globulin concentration,HPO,phenotype,PHENOTYPE_5431
5432,5432,5432,5432,5432,5432,5432,5432,5324,Disturbance of facial expression,HPO,phenotype,PHENOTYPE_5432
5433,5433,5433,5433,5433,5433,5433,5433,410063,Increased level of galactonate in red blood cells,HPO,phenotype,PHENOTYPE_5433
5434,5434,5434,5434,5434,5434,5434,5434,31216,Increased circulating progesterone,HPO,phenotype,PHENOTYPE_5434
5435,5435,5435,5435,5435,5435,5435,5435,1395,Hepatic fibrosis,HPO,phenotype,PHENOTYPE_5435
5436,5436,5436,5436,5436,5436,5436,5436,654,Decreased light- and dark-adapted electroretinogram amplitude,HPO,phenotype,PHENOTYPE_5436
5437,5437,5437,5437,5437,5437,5437,5437,33484,Elevated circulating linoleylcarnitine concentration,HPO,phenotype,PHENOTYPE_5437
5438,5438,5438,5438,5438,5438,5438,5438,41147,Fractured epiphysis,HPO,phenotype,PHENOTYPE_5438
5439,5439,5439,5439,5439,5439,5439,5439,12688,Abnormality of pineal physiology,HPO,phenotype,PHENOTYPE_5439
5440,5440,5440,5440,5440,5440,5440,5440,6001043,Cholecyst-enteric fistula,HPO,phenotype,PHENOTYPE_5440
5441,5441,5441,5441,5441,5441,5441,5441,3028,Abnormality of the ankle,HPO,phenotype,PHENOTYPE_5441
5442,5442,5442,5442,5442,5442,5442,5442,25012,Status cribrosum,HPO,phenotype,PHENOTYPE_5442
5443,5443,5443,5443,5443,5443,5443,5443,410051,Increased level of 3-hydroxy-3-methylglutaric acid in urine,HPO,phenotype,PHENOTYPE_5443
5444,5444,5444,5444,5444,5444,5444,5444,32923,Focal impaired awareness vocal automatism seizure,HPO,phenotype,PHENOTYPE_5444
5445,5445,5445,5445,5445,5445,5445,5445,34949,Uterine cervix myxoma,HPO,phenotype,PHENOTYPE_5445
5446,5446,5446,5446,5446,5446,5446,5446,410348,Increased urinary multiantennary sialylated oligosaccharide,HPO,phenotype,PHENOTYPE_5446
5447,5447,5447,5447,5447,5447,5447,5447,3144,Increased serum serotonin,HPO,phenotype,PHENOTYPE_5447
5448,5448,5448,5448,5448,5448,5448,5448,5667,Os odontoideum,HPO,phenotype,PHENOTYPE_5448
5449,5449,5449,5449,5449,5449,5449,5449,100861,Sclerotic vertebral body,HPO,phenotype,PHENOTYPE_5449
5450,5450,5450,5450,5450,5450,5450,5450,34417,Intraoral laceration,HPO,phenotype,PHENOTYPE_5450
5451,5451,5451,5451,5451,5451,5451,5451,30572,Pinhole visual acuity 0.4 LogMAR,HPO,phenotype,PHENOTYPE_5451
5452,5452,5452,5452,5452,5452,5452,5452,3653,Cellular metachromasia,HPO,phenotype,PHENOTYPE_5452
5453,5453,5453,5453,5453,5453,5453,5453,10443,Bifid femur,HPO,phenotype,PHENOTYPE_5453
5454,5454,5454,5454,5454,5454,5454,5454,12689,Abnormal pineal melatonin secretion,HPO,phenotype,PHENOTYPE_5454
5455,5455,5455,5455,5455,5455,5455,5455,33296,Binucleated visceral epithelial cells,HPO,phenotype,PHENOTYPE_5455
5456,5456,5456,5456,5456,5456,5456,5456,31838,Presence of xenobiotic,HPO,phenotype,PHENOTYPE_5456
5457,5457,5457,5457,5457,5457,5457,5457,25507,Yellow papule,HPO,phenotype,PHENOTYPE_5457
5458,5458,5458,5458,5458,5458,5458,5458,11813,Increased cerebral lipofuscin,HPO,phenotype,PHENOTYPE_5458
5459,5459,5459,5459,5459,5459,5459,5459,31655,Quadricuspid aortic valve,HPO,phenotype,PHENOTYPE_5459
5460,5460,5460,5460,5460,5460,5460,5460,12718,Abnormal gastrointestinal tract morphology,HPO,phenotype,PHENOTYPE_5460
5461,5461,5461,5461,5461,5461,5461,5461,6000873,Bowdler spurs,HPO,phenotype,PHENOTYPE_5461
5462,5462,5462,5462,5462,5462,5462,5462,34093,Anti-Ro52/TRIM21 antibody positivity,HPO,phenotype,PHENOTYPE_5462
5463,5463,5463,5463,5463,5463,5463,5463,32072,Popliteal synovial cyst,HPO,phenotype,PHENOTYPE_5463
5464,5464,5464,5464,5464,5464,5464,5464,3987,Fractured ulna,HPO,phenotype,PHENOTYPE_5464
5465,5465,5465,5465,5465,5465,5465,5465,9980,Complete duplication of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_5465
5466,5466,5466,5466,5466,5466,5466,5466,5891,Progressive forearm bowing,HPO,phenotype,PHENOTYPE_5466
5467,5467,5467,5467,5467,5467,5467,5467,2876,Episodic tachypnea,HPO,phenotype,PHENOTYPE_5467
5468,5468,5468,5468,5468,5468,5468,5468,9894,Thickened ears,HPO,phenotype,PHENOTYPE_5468
5469,5469,5469,5469,5469,5469,5469,5469,598,Abnormality of the ear,HPO,phenotype,PHENOTYPE_5469
5470,5470,5470,5470,5470,5470,5470,5470,3002,Breast carcinoma,HPO,phenotype,PHENOTYPE_5470
5471,5471,5471,5471,5471,5471,5471,5471,33809,Increased circulating 17 hydroxypregnenolone concentration,HPO,phenotype,PHENOTYPE_5471
5472,5472,5472,5472,5472,5472,5472,5472,800,Cystic renal dysplasia,HPO,phenotype,PHENOTYPE_5472
5473,5473,5473,5473,5473,5473,5473,5473,4356,Abnormality of lysosomal metabolism,HPO,phenotype,PHENOTYPE_5473
5474,5474,5474,5474,5474,5474,5474,5474,6000564,Elevated circulating vasoactive intestinal peptide concentration,HPO,phenotype,PHENOTYPE_5474
5475,5475,5475,5475,5475,5475,5475,5475,100180,Absent epiphysis of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_5475
5476,5476,5476,5476,5476,5476,5476,5476,31757,Medial rectus muscle restriction,HPO,phenotype,PHENOTYPE_5476
5477,5477,5477,5477,5477,5477,5477,5477,10055,Broad hallux,HPO,phenotype,PHENOTYPE_5477
5478,5478,5478,5478,5478,5478,5478,5478,152,Abnormality of head or neck,HPO,phenotype,PHENOTYPE_5478
5479,5479,5479,5479,5479,5479,5479,5479,30957,Ventricular septal aneurysm,HPO,phenotype,PHENOTYPE_5479
5480,5480,5480,5480,5480,5480,5480,5480,32734,Focal aware emotional seizure,HPO,phenotype,PHENOTYPE_5480
5481,5481,5481,5481,5481,5481,5481,5481,12343,Decreased circulating ferritin concentration,HPO,phenotype,PHENOTYPE_5481
5482,5482,5482,5482,5482,5482,5482,5482,11336,Bitemporal forceps marks,HPO,phenotype,PHENOTYPE_5482
5483,5483,5483,5483,5483,5483,5483,5483,32333,Polyclonal elevation of circulating IgA,HPO,phenotype,PHENOTYPE_5483
5484,5484,5484,5484,5484,5484,5484,5484,3352,Endopolyploidy on chromosome studies of bone marrow,HPO,phenotype,PHENOTYPE_5484
5485,5485,5485,5485,5485,5485,5485,5485,32435,Neonatal omphalitis,HPO,phenotype,PHENOTYPE_5485
5486,5486,5486,5486,5486,5486,5486,5486,12011,EEG with occipital focal spike waves,HPO,phenotype,PHENOTYPE_5486
5487,5487,5487,5487,5487,5487,5487,5487,100595,Camptocormia,HPO,phenotype,PHENOTYPE_5487
5488,5488,5488,5488,5488,5488,5488,5488,11038,Abnormal renal tubular resorption,HPO,phenotype,PHENOTYPE_5488
5489,5489,5489,5489,5489,5489,5489,5489,10480,Urethral fistula,HPO,phenotype,PHENOTYPE_5489
5490,5490,5490,5490,5490,5490,5490,5490,2527,Falls,HPO,phenotype,PHENOTYPE_5490
5491,5491,5491,5491,5491,5491,5491,5491,7111,Chronic hepatic encephalopathy,HPO,phenotype,PHENOTYPE_5491
5492,5492,5492,5492,5492,5492,5492,5492,8204,Precocious puberty with Sertoli cell tumor,HPO,phenotype,PHENOTYPE_5492
5493,5493,5493,5493,5493,5493,5493,5493,10862,Delayed fine motor development,HPO,phenotype,PHENOTYPE_5493
5494,5494,5494,5494,5494,5494,5494,5494,5000035,Anti-TRIM46 antibody,HPO,phenotype,PHENOTYPE_5494
5495,5495,5495,5495,5495,5495,5495,5495,3105,Protuberances at ends of long bones,HPO,phenotype,PHENOTYPE_5495
5496,5496,5496,5496,5496,5496,5496,5496,5934,Imperfect vocal cord adduction,HPO,phenotype,PHENOTYPE_5496
5497,5497,5497,5497,5497,5497,5497,5497,961,Cyanosis,HPO,phenotype,PHENOTYPE_5497
5498,5498,5498,5498,5498,5498,5498,5498,4482,Relative macrocephaly,HPO,phenotype,PHENOTYPE_5498
5499,5499,5499,5499,5499,5499,5499,5499,11862,Abnormal bone collagen fibril morphology,HPO,phenotype,PHENOTYPE_5499
5500,5500,5500,5500,5500,5500,5500,5500,32489,Elevated fecal pH,HPO,phenotype,PHENOTYPE_5500
5501,5501,5501,5501,5501,5501,5501,5501,100041,Broad 3rd toe,HPO,phenotype,PHENOTYPE_5501
5502,5502,5502,5502,5502,5502,5502,5502,9946,Polydactyly affecting the 2nd finger,HPO,phenotype,PHENOTYPE_5502
5503,5503,5503,5503,5503,5503,5503,5503,11800,Midface retrusion,HPO,phenotype,PHENOTYPE_5503
5504,5504,5504,5504,5504,5504,5504,5504,12554,Absent thumbnail,HPO,phenotype,PHENOTYPE_5504
5505,5505,5505,5505,5505,5505,5505,5505,34260,Aplastic zygomatic arch,HPO,phenotype,PHENOTYPE_5505
5506,5506,5506,5506,5506,5506,5506,5506,33780,Bulbous tooth,HPO,phenotype,PHENOTYPE_5506
5507,5507,5507,5507,5507,5507,5507,5507,34413,Palate mass,HPO,phenotype,PHENOTYPE_5507
5508,5508,5508,5508,5508,5508,5508,5508,40198,Non-medullary thyroid carcinoma,HPO,phenotype,PHENOTYPE_5508
5509,5509,5509,5509,5509,5509,5509,5509,34619,Decreased circulating membrane cofactor protein concentration,HPO,phenotype,PHENOTYPE_5509
5510,5510,5510,5510,5510,5510,5510,5510,40280,Obligate,HPO,phenotype,PHENOTYPE_5510
5511,5511,5511,5511,5511,5511,5511,5511,20119,Abnormal retinal nerve fiber layer morphology,HPO,phenotype,PHENOTYPE_5511
5512,5512,5512,5512,5512,5512,5512,5512,5109,Abnormality of the Achilles tendon,HPO,phenotype,PHENOTYPE_5512
5513,5513,5513,5513,5513,5513,5513,5513,7281,Developmental stagnation,HPO,phenotype,PHENOTYPE_5513
5514,5514,5514,5514,5514,5514,5514,5514,30049,Brain abscess,HPO,phenotype,PHENOTYPE_5514
5515,5515,5515,5515,5515,5515,5515,5515,3000063,Abnormality of internal jugular vein,HPO,phenotype,PHENOTYPE_5515
5516,5516,5516,5516,5516,5516,5516,5516,6289,Agenesis of central incisor,HPO,phenotype,PHENOTYPE_5516
5517,5517,5517,5517,5517,5517,5517,5517,12602,Renal chloride wasting,HPO,phenotype,PHENOTYPE_5517
5518,5518,5518,5518,5518,5518,5518,5518,100050,Ivory epiphyses of the 2nd toe,HPO,phenotype,PHENOTYPE_5518
5519,5519,5519,5519,5519,5519,5519,5519,6335,Persistence of primary teeth,HPO,phenotype,PHENOTYPE_5519
5520,5520,5520,5520,5520,5520,5520,5520,33792,Cross bite,HPO,phenotype,PHENOTYPE_5520
5521,5521,5521,5521,5521,5521,5521,5521,25336,Delayed ability to sit,HPO,phenotype,PHENOTYPE_5521
5522,5522,5522,5522,5522,5522,5522,5522,32868,Super-refractory status epilepticus,HPO,phenotype,PHENOTYPE_5522
5523,5523,5523,5523,5523,5523,5523,5523,4249,Accessory lunate,HPO,phenotype,PHENOTYPE_5523
5524,5524,5524,5524,5524,5524,5524,5524,11758,Pituitary acidophilic stem cell adenoma,HPO,phenotype,PHENOTYPE_5524
5525,5525,5525,5525,5525,5525,5525,5525,6000855,Cold intolerance,HPO,phenotype,PHENOTYPE_5525
5526,5526,5526,5526,5526,5526,5526,5526,430151,Positive respiratory tract infectious agent test,HPO,phenotype,PHENOTYPE_5526
5527,5527,5527,5527,5527,5527,5527,5527,6000727,History of undercooked pork ingestion,HPO,phenotype,PHENOTYPE_5527
5528,5528,5528,5528,5528,5528,5528,5528,40301,Increased urinary glycerol,HPO,phenotype,PHENOTYPE_5528
5529,5529,5529,5529,5529,5529,5529,5529,34987,Focal necrotic optic nerve lesion,HPO,phenotype,PHENOTYPE_5529
5530,5530,5530,5530,5530,5530,5530,5530,10057,Abnormal hallux phalanx morphology,HPO,phenotype,PHENOTYPE_5530
5531,5531,5531,5531,5531,5531,5531,5531,10473,Porphyrinuria,HPO,phenotype,PHENOTYPE_5531
5532,5532,5532,5532,5532,5532,5532,5532,41093,Beau's lines,HPO,phenotype,PHENOTYPE_5532
5533,5533,5533,5533,5533,5533,5533,5533,11312,Fused nails,HPO,phenotype,PHENOTYPE_5533
5534,5534,5534,5534,5534,5534,5534,5534,2533,Abnormal posturing,HPO,phenotype,PHENOTYPE_5534
5535,5535,5535,5535,5535,5535,5535,5535,25170,Neuronal/glioneuronal neoplasm of the central nervous system,HPO,phenotype,PHENOTYPE_5535
5536,5536,5536,5536,5536,5536,5536,5536,33906,Renal intimal/medial arteriolitis,HPO,phenotype,PHENOTYPE_5536
5537,5537,5537,5537,5537,5537,5537,5537,100451,Curved distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_5537
5538,5538,5538,5538,5538,5538,5538,5538,10460,Abnormality of the female genitalia,HPO,phenotype,PHENOTYPE_5538
5539,5539,5539,5539,5539,5539,5539,5539,1915,Aplastic anemia,HPO,phenotype,PHENOTYPE_5539
5540,5540,5540,5540,5540,5540,5540,5540,5313,Arterial fibromuscular dysplasia,HPO,phenotype,PHENOTYPE_5540
5541,5541,5541,5541,5541,5541,5541,5541,33681,Oligodendroglioma,HPO,phenotype,PHENOTYPE_5541
5542,5542,5542,5542,5542,5542,5542,5542,100518,Dysuria,HPO,phenotype,PHENOTYPE_5542
5543,5543,5543,5543,5543,5543,5543,5543,6000230,Decreased muscle caveolin-3 level,HPO,phenotype,PHENOTYPE_5543
5544,5544,5544,5544,5544,5544,5544,5544,6789,Mitochondrial encephalopathy,HPO,phenotype,PHENOTYPE_5544
5545,5545,5545,5545,5545,5545,5545,5545,10645,Aplasia of the distal phalanges of the toes,HPO,phenotype,PHENOTYPE_5545
5546,5546,5546,5546,5546,5546,5546,5546,4000141,Left ventricular dilatation,HPO,phenotype,PHENOTYPE_5546
5547,5547,5547,5547,5547,5547,5547,5547,7617,"Fine, reticulate skin pigmentation",HPO,phenotype,PHENOTYPE_5547
5548,5548,5548,5548,5548,5548,5548,5548,100833,Neoplasm of the small intestine,HPO,phenotype,PHENOTYPE_5548
5549,5549,5549,5549,5549,5549,5549,5549,6694,Early progressive calcific cardiac valvular disease,HPO,phenotype,PHENOTYPE_5549
5550,5550,5550,5550,5550,5550,5550,5550,25574,Macular hemorrhage,HPO,phenotype,PHENOTYPE_5550
5551,5551,5551,5551,5551,5551,5551,5551,31331,Abnormal cardiomyocyte morphology,HPO,phenotype,PHENOTYPE_5551
5552,5552,5552,5552,5552,5552,5552,5552,1118,Juvenile cataract,HPO,phenotype,PHENOTYPE_5552
5553,5553,5553,5553,5553,5553,5553,5553,846,Adrenal insufficiency,HPO,phenotype,PHENOTYPE_5553
5554,5554,5554,5554,5554,5554,5554,5554,100098,Abnormality of the epiphysis of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_5554
5555,5555,5555,5555,5555,5555,5555,5555,2221,Absent axillary hair,HPO,phenotype,PHENOTYPE_5555
5556,5556,5556,5556,5556,5556,5556,5556,30551,Visual acuity light perception with projection,HPO,phenotype,PHENOTYPE_5556
5557,5557,5557,5557,5557,5557,5557,5557,30413,Squamous cell carcinoma of the tongue,HPO,phenotype,PHENOTYPE_5557
5558,5558,5558,5558,5558,5558,5558,5558,41225,Fractured 1st metacarpal,HPO,phenotype,PHENOTYPE_5558
5559,5559,5559,5559,5559,5559,5559,5559,100191,Absent epiphysis of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_5559
5560,5560,5560,5560,5560,5560,5560,5560,8148,Impaired epinephrine-induced platelet aggregation,HPO,phenotype,PHENOTYPE_5560
5561,5561,5561,5561,5561,5561,5561,5561,6440,Increased density of long bone diaphyses,HPO,phenotype,PHENOTYPE_5561
5562,5562,5562,5562,5562,5562,5562,5562,20036,Upper limb dysmetria,HPO,phenotype,PHENOTYPE_5562
5563,5563,5563,5563,5563,5563,5563,5563,10153,Fragmentation of the epiphysis of the 1st metatarsal,HPO,phenotype,PHENOTYPE_5563
5564,5564,5564,5564,5564,5564,5564,5564,32828,Neonatal bilateral symmetric tonic seizure,HPO,phenotype,PHENOTYPE_5564
5565,5565,5565,5565,5565,5565,5565,5565,25638,Elevated urinary N-butyrylglycine,HPO,phenotype,PHENOTYPE_5565
5566,5566,5566,5566,5566,5566,5566,5566,932,Abnormal posterior cranial fossa morphology,HPO,phenotype,PHENOTYPE_5566
5567,5567,5567,5567,5567,5567,5567,5567,6001133,Elbow medial collateral ligament tear,HPO,phenotype,PHENOTYPE_5567
5568,5568,5568,5568,5568,5568,5568,5568,6000717,Axonal spheroids,HPO,phenotype,PHENOTYPE_5568
5569,5569,5569,5569,5569,5569,5569,5569,9380,Finger aplasia,HPO,phenotype,PHENOTYPE_5569
5570,5570,5570,5570,5570,5570,5570,5570,45003,Abnormal ossification of the scaphoid,HPO,phenotype,PHENOTYPE_5570
5571,5571,5571,5571,5571,5571,5571,5571,32175,Signet ring sign,HPO,phenotype,PHENOTYPE_5571
5572,5572,5572,5572,5572,5572,5572,5572,30515,Moderately reduced visual acuity,HPO,phenotype,PHENOTYPE_5572
5573,5573,5573,5573,5573,5573,5573,5573,410251,Abnormal L-selectin shedding,HPO,phenotype,PHENOTYPE_5573
5574,5574,5574,5574,5574,5574,5574,5574,30617,Abnormal OCT-measured foveal thickness,HPO,phenotype,PHENOTYPE_5574
5575,5575,5575,5575,5575,5575,5575,5575,33125,Follicular lymphoma,HPO,phenotype,PHENOTYPE_5575
5576,5576,5576,5576,5576,5576,5576,5576,482,Microcornea,HPO,phenotype,PHENOTYPE_5576
5577,5577,5577,5577,5577,5577,5577,5577,6001009,Increased urine 4-hydroxy-2-oxoglutarate level,HPO,phenotype,PHENOTYPE_5577
5578,5578,5578,5578,5578,5578,5578,5578,6000662,Bladder rupture,HPO,phenotype,PHENOTYPE_5578
5579,5579,5579,5579,5579,5579,5579,5579,32108,Mildly reduced contrast sensitivity,HPO,phenotype,PHENOTYPE_5579
5580,5580,5580,5580,5580,5580,5580,5580,32253,Eosinophilic granuloma,HPO,phenotype,PHENOTYPE_5580
5581,5581,5581,5581,5581,5581,5581,5581,33718,EEG with central epileptiform discharges,HPO,phenotype,PHENOTYPE_5581
5582,5582,5582,5582,5582,5582,5582,5582,25589,Cyclodeviation,HPO,phenotype,PHENOTYPE_5582
5583,5583,5583,5583,5583,5583,5583,5583,4258,Small trapezoid bone,HPO,phenotype,PHENOTYPE_5583
5584,5584,5584,5584,5584,5584,5584,5584,34712,Decreased circulating alpha-mannosidase activity,HPO,phenotype,PHENOTYPE_5584
5585,5585,5585,5585,5585,5585,5585,5585,848,Increased circulating renin concentration,HPO,phenotype,PHENOTYPE_5585
5586,5586,5586,5586,5586,5586,5586,5586,65,Labial hypertrophy,HPO,phenotype,PHENOTYPE_5586
5587,5587,5587,5587,5587,5587,5587,5587,9177,Proximal/middle symphalangism of 5th finger,HPO,phenotype,PHENOTYPE_5587
5588,5588,5588,5588,5588,5588,5588,5588,6302,Dagger-shaped pulp calcifications,HPO,phenotype,PHENOTYPE_5588
5589,5589,5589,5589,5589,5589,5589,5589,5332,Recurrent mandibular subluxations,HPO,phenotype,PHENOTYPE_5589
5590,5590,5590,5590,5590,5590,5590,5590,6000009,Cerebriform connective tissue nevus,HPO,phenotype,PHENOTYPE_5590
5591,5591,5591,5591,5591,5591,5591,5591,3950,Flared elbow metaphyses,HPO,phenotype,PHENOTYPE_5591
5592,5592,5592,5592,5592,5592,5592,5592,100386,Aplasia of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_5592
5593,5593,5593,5593,5593,5593,5593,5593,11259,Expanded terminal portion of crus of helix,HPO,phenotype,PHENOTYPE_5593
5594,5594,5594,5594,5594,5594,5594,5594,31967,Cloudy urine,HPO,phenotype,PHENOTYPE_5594
5595,5595,5595,5595,5595,5595,5595,5595,2085,Occipital encephalocele,HPO,phenotype,PHENOTYPE_5595
5596,5596,5596,5596,5596,5596,5596,5596,3426,First dorsal interossei muscle atrophy,HPO,phenotype,PHENOTYPE_5596
5597,5597,5597,5597,5597,5597,5597,5597,11421,Death in adolescence,HPO,phenotype,PHENOTYPE_5597
5598,5598,5598,5598,5598,5598,5598,5598,2608,Celiac disease,HPO,phenotype,PHENOTYPE_5598
5599,5599,5599,5599,5599,5599,5599,5599,25315,Exacerbated by head trauma,HPO,phenotype,PHENOTYPE_5599
5600,5600,5600,5600,5600,5600,5600,5600,25386,Bitemporal hollowing,HPO,phenotype,PHENOTYPE_5600
5601,5601,5601,5601,5601,5601,5601,5601,1116,Macular coloboma,HPO,phenotype,PHENOTYPE_5601
5602,5602,5602,5602,5602,5602,5602,5602,5572,Decreased renal tubular phosphate excretion,HPO,phenotype,PHENOTYPE_5602
5603,5603,5603,5603,5603,5603,5603,5603,9072,Decreased Achilles reflex,HPO,phenotype,PHENOTYPE_5603
5604,5604,5604,5604,5604,5604,5604,5604,2141,Gait imbalance,HPO,phenotype,PHENOTYPE_5604
5605,5605,5605,5605,5605,5605,5605,5605,30567,Best corrected visual acuity 2.0 LogMAR,HPO,phenotype,PHENOTYPE_5605
5606,5606,5606,5606,5606,5606,5606,5606,100734,Abnormal vertebral epiphysis morphology,HPO,phenotype,PHENOTYPE_5606
5607,5607,5607,5607,5607,5607,5607,5607,25469,Anagen effluvium,HPO,phenotype,PHENOTYPE_5607
5608,5608,5608,5608,5608,5608,5608,5608,34206,Abnormal fetal central nervous system morphology,HPO,phenotype,PHENOTYPE_5608
5609,5609,5609,5609,5609,5609,5609,5609,32604,Renal tubular epithelial cell mitosis,HPO,phenotype,PHENOTYPE_5609
5610,5610,5610,5610,5610,5610,5610,5610,410018,Recurrent ear infections,HPO,phenotype,PHENOTYPE_5610
5611,5611,5611,5611,5611,5611,5611,5611,12564,Premature epimetaphyseal fusion in tibia,HPO,phenotype,PHENOTYPE_5611
5612,5612,5612,5612,5612,5612,5612,5612,6000059,Localized to upper eyelid,HPO,phenotype,PHENOTYPE_5612
5613,5613,5613,5613,5613,5613,5613,5613,25212,Triggered by fasting,HPO,phenotype,PHENOTYPE_5613
5614,5614,5614,5614,5614,5614,5614,5614,12454,Unilateral wrist flexion contracture,HPO,phenotype,PHENOTYPE_5614
5615,5615,5615,5615,5615,5615,5615,5615,9434,Patchy sclerosis of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_5615
5616,5616,5616,5616,5616,5616,5616,5616,34975,Occipital horn,HPO,phenotype,PHENOTYPE_5616
5617,5617,5617,5617,5617,5617,5617,5617,6001091,Conjunctival fornix foreshortening,HPO,phenotype,PHENOTYPE_5617
5618,5618,5618,5618,5618,5618,5618,5618,33781,Tapered tooth,HPO,phenotype,PHENOTYPE_5618
5619,5619,5619,5619,5619,5619,5619,5619,33003,Tracheal papilloma,HPO,phenotype,PHENOTYPE_5619
5620,5620,5620,5620,5620,5620,5620,5620,7838,Progressive ptosis,HPO,phenotype,PHENOTYPE_5620
5621,5621,5621,5621,5621,5621,5621,5621,31185,Increased circulating NT-proBNP concentration,HPO,phenotype,PHENOTYPE_5621
5622,5622,5622,5622,5622,5622,5622,5622,4261,Wide hamate bone,HPO,phenotype,PHENOTYPE_5622
5623,5623,5623,5623,5623,5623,5623,5623,30912,Duplicated clitoris,HPO,phenotype,PHENOTYPE_5623
5624,5624,5624,5624,5624,5624,5624,5624,6000892,White matter globoid cells,HPO,phenotype,PHENOTYPE_5624
5625,5625,5625,5625,5625,5625,5625,5625,1013,Eruptive xanthomas,HPO,phenotype,PHENOTYPE_5625
5626,5626,5626,5626,5626,5626,5626,5626,33049,Globus pallidus hypointensity on susceptibility-weighted imaging,HPO,phenotype,PHENOTYPE_5626
5627,5627,5627,5627,5627,5627,5627,5627,968,Ectodermal dysplasia,HPO,phenotype,PHENOTYPE_5627
5628,5628,5628,5628,5628,5628,5628,5628,34282,Subcutaneous ossification,HPO,phenotype,PHENOTYPE_5628
5629,5629,5629,5629,5629,5629,5629,5629,10095,Partial duplication of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_5629
5630,5630,5630,5630,5630,5630,5630,5630,6000221,Positive stool occult blood test,HPO,phenotype,PHENOTYPE_5630
5631,5631,5631,5631,5631,5631,5631,5631,32075,Splenopancreatic fusion,HPO,phenotype,PHENOTYPE_5631
5632,5632,5632,5632,5632,5632,5632,5632,41088,Avulsion fractured humerus,HPO,phenotype,PHENOTYPE_5632
5633,5633,5633,5633,5633,5633,5633,5633,7065,Disorganization of the anterior cerebellar vermis,HPO,phenotype,PHENOTYPE_5633
5634,5634,5634,5634,5634,5634,5634,5634,1217,Clubbing,HPO,phenotype,PHENOTYPE_5634
5635,5635,5635,5635,5635,5635,5635,5635,3183,Wide pubic symphysis,HPO,phenotype,PHENOTYPE_5635
5636,5636,5636,5636,5636,5636,5636,5636,5575,Hemolytic-uremic syndrome,HPO,phenotype,PHENOTYPE_5636
5637,5637,5637,5637,5637,5637,5637,5637,5037,Proximal radio-ulnar synostosis,HPO,phenotype,PHENOTYPE_5637
5638,5638,5638,5638,5638,5638,5638,5638,41072,Chronic decreased circulating IgG3,HPO,phenotype,PHENOTYPE_5638
5639,5639,5639,5639,5639,5639,5639,5639,1,All,HPO,phenotype,PHENOTYPE_5639
5640,5640,5640,5640,5640,5640,5640,5640,32049,Focal cortical dysplasia type Ib,HPO,phenotype,PHENOTYPE_5640
5641,5641,5641,5641,5641,5641,5641,5641,12777,Retinal neoplasm,HPO,phenotype,PHENOTYPE_5641
5642,5642,5642,5642,5642,5642,5642,5642,9274,Joint contracture of the 4th finger,HPO,phenotype,PHENOTYPE_5642
5643,5643,5643,5643,5643,5643,5643,5643,30394,Fallopian tube carcinoma,HPO,phenotype,PHENOTYPE_5643
5644,5644,5644,5644,5644,5644,5644,5644,31297,Unroofed coronary sinus,HPO,phenotype,PHENOTYPE_5644
5645,5645,5645,5645,5645,5645,5645,5645,3903,Broad humeral epiphyses,HPO,phenotype,PHENOTYPE_5645
5646,5646,5646,5646,5646,5646,5646,5646,6000697,Low tissue ferrochelatase activity,HPO,phenotype,PHENOTYPE_5646
5647,5647,5647,5647,5647,5647,5647,5647,33760,Decreased maximal oxygen uptake,HPO,phenotype,PHENOTYPE_5647
5648,5648,5648,5648,5648,5648,5648,5648,410252,Chronic neutropenia,HPO,phenotype,PHENOTYPE_5648
5649,5649,5649,5649,5649,5649,5649,5649,9540,Contracture of the proximal interphalangeal joint of the 2nd finger,HPO,phenotype,PHENOTYPE_5649
5650,5650,5650,5650,5650,5650,5650,5650,30620,Inner retinal layer loss on macular OCT,HPO,phenotype,PHENOTYPE_5650
5651,5651,5651,5651,5651,5651,5651,5651,32615,Abnormal diffusion weighted cerebral MRI morphology,HPO,phenotype,PHENOTYPE_5651
5652,5652,5652,5652,5652,5652,5652,5652,6000022,Collagenoma,HPO,phenotype,PHENOTYPE_5652
5653,5653,5653,5653,5653,5653,5653,5653,31728,Mild hypermetropia,HPO,phenotype,PHENOTYPE_5653
5654,5654,5654,5654,5654,5654,5654,5654,25236,Somnambulism,HPO,phenotype,PHENOTYPE_5654
5655,5655,5655,5655,5655,5655,5655,5655,100054,Triangular epiphyses of the 2nd toe,HPO,phenotype,PHENOTYPE_5655
5656,5656,5656,5656,5656,5656,5656,5656,33246,Type II pneumocyte hypertrophy,HPO,phenotype,PHENOTYPE_5656
5657,5657,5657,5657,5657,5657,5657,5657,34740,Reduced CSF methionine concentration,HPO,phenotype,PHENOTYPE_5657
5658,5658,5658,5658,5658,5658,5658,5658,5160,Total anomalous pulmonary venous return,HPO,phenotype,PHENOTYPE_5658
5659,5659,5659,5659,5659,5659,5659,5659,6000963,Demonstration of acid-fast bacilli in wound tissue,HPO,phenotype,PHENOTYPE_5659
5660,5660,5660,5660,5660,5660,5660,5660,6000321,Labile Hypertension,HPO,phenotype,PHENOTYPE_5660
5661,5661,5661,5661,5661,5661,5661,5661,2062,Abnormal pyramidal tract morphology,HPO,phenotype,PHENOTYPE_5661
5662,5662,5662,5662,5662,5662,5662,5662,25282,Dull,HPO,phenotype,PHENOTYPE_5662
5663,5663,5663,5663,5663,5663,5663,5663,35005,Reduced hepatic alanine-glyoxylate aminotransferase activity,HPO,phenotype,PHENOTYPE_5663
5664,5664,5664,5664,5664,5664,5664,5664,9939,Mandibular aplasia,HPO,phenotype,PHENOTYPE_5664
5665,5665,5665,5665,5665,5665,5665,5665,7933,Broad lateral eyebrow,HPO,phenotype,PHENOTYPE_5665
5666,5666,5666,5666,5666,5666,5666,5666,12279,Hyposerinemia,HPO,phenotype,PHENOTYPE_5666
5667,5667,5667,5667,5667,5667,5667,5667,9498,Triangular epiphyses of the 2nd finger,HPO,phenotype,PHENOTYPE_5667
5668,5668,5668,5668,5668,5668,5668,5668,11022,Abnormal circulating unsaturated fatty acid concentration,HPO,phenotype,PHENOTYPE_5668
5669,5669,5669,5669,5669,5669,5669,5669,5461,Craniofacial disproportion,HPO,phenotype,PHENOTYPE_5669
5670,5670,5670,5670,5670,5670,5670,5670,34077,Anti-complement component C1q antibody positivity,HPO,phenotype,PHENOTYPE_5670
5671,5671,5671,5671,5671,5671,5671,5671,32555,Bounding pulse,HPO,phenotype,PHENOTYPE_5671
5672,5672,5672,5672,5672,5672,5672,5672,31377,Abnormal cell proliferation,HPO,phenotype,PHENOTYPE_5672
5673,5673,5673,5673,5673,5673,5673,5673,3248,Gonadal tissue inappropriate for external genitalia or chromosomal sex,HPO,phenotype,PHENOTYPE_5673
5674,5674,5674,5674,5674,5674,5674,5674,32580,Abnormal bulbus cordis morphology,HPO,phenotype,PHENOTYPE_5674
5675,5675,5675,5675,5675,5675,5675,5675,33454,Tube feeding,HPO,phenotype,PHENOTYPE_5675
5676,5676,5676,5676,5676,5676,5676,5676,1582,Redundant skin,HPO,phenotype,PHENOTYPE_5676
5677,5677,5677,5677,5677,5677,5677,5677,30251,Absence of memory B cells,HPO,phenotype,PHENOTYPE_5677
5678,5678,5678,5678,5678,5678,5678,5678,3800,Muscle abnormality related to mitochondrial dysfunction,HPO,phenotype,PHENOTYPE_5678
5679,5679,5679,5679,5679,5679,5679,5679,3067,Madelung deformity,HPO,phenotype,PHENOTYPE_5679
5680,5680,5680,5680,5680,5680,5680,5680,34571,Ovarian fibrosis,HPO,phenotype,PHENOTYPE_5680
5681,5681,5681,5681,5681,5681,5681,5681,100738,Abnormal eating behavior,HPO,phenotype,PHENOTYPE_5681
5682,5682,5682,5682,5682,5682,5682,5682,12138,Granulocytic hyperplasia,HPO,phenotype,PHENOTYPE_5682
5683,5683,5683,5683,5683,5683,5683,5683,5200430,Abnormal psychotic pattern,HPO,phenotype,PHENOTYPE_5683
5684,5684,5684,5684,5684,5684,5684,5684,4582,Irregularity of vertebral bodies,HPO,phenotype,PHENOTYPE_5684
5685,5685,5685,5685,5685,5685,5685,5685,25444,Reduced amygdala volume,HPO,phenotype,PHENOTYPE_5685
5686,5686,5686,5686,5686,5686,5686,5686,12886,Hemorrhagic ovarian cyst,HPO,phenotype,PHENOTYPE_5686
5687,5687,5687,5687,5687,5687,5687,5687,410144,Abnormal circulating biotinidase concentration,HPO,phenotype,PHENOTYPE_5687
5688,5688,5688,5688,5688,5688,5688,5688,144,Decreased fertility,HPO,phenotype,PHENOTYPE_5688
5689,5689,5689,5689,5689,5689,5689,5689,6336,Short dental root,HPO,phenotype,PHENOTYPE_5689
5690,5690,5690,5690,5690,5690,5690,5690,31083,Abnormal response to human chorionic gonadotrophin stimulation test,HPO,phenotype,PHENOTYPE_5690
5691,5691,5691,5691,5691,5691,5691,5691,12583,Unilateral renal hypoplasia,HPO,phenotype,PHENOTYPE_5691
5692,5692,5692,5692,5692,5692,5692,5692,34564,Kidney teratoma,HPO,phenotype,PHENOTYPE_5692
5693,5693,5693,5693,5693,5693,5693,5693,25202,Elevated circulating apolipoprotein A-IV concentration,HPO,phenotype,PHENOTYPE_5693
5694,5694,5694,5694,5694,5694,5694,5694,3835,Shoulder subluxation,HPO,phenotype,PHENOTYPE_5694
5695,5695,5695,5695,5695,5695,5695,5695,11665,Takotsubo cardiomyopathy,HPO,phenotype,PHENOTYPE_5695
5696,5696,5696,5696,5696,5696,5696,5696,100671,Abnormal trabecular bone morphology,HPO,phenotype,PHENOTYPE_5696
5697,5697,5697,5697,5697,5697,5697,5697,664,Synophrys,HPO,phenotype,PHENOTYPE_5697
5698,5698,5698,5698,5698,5698,5698,5698,34972,Fallopian tube mass,HPO,phenotype,PHENOTYPE_5698
5699,5699,5699,5699,5699,5699,5699,5699,100203,Bracket epiphysis of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_5699
5700,5700,5700,5700,5700,5700,5700,5700,430080,Anti-rickettsial antibody positivity,HPO,phenotype,PHENOTYPE_5700
5701,5701,5701,5701,5701,5701,5701,5701,10634,Total hyposmia,HPO,phenotype,PHENOTYPE_5701
5702,5702,5702,5702,5702,5702,5702,5702,31136,Decreased acrosin in sperm head,HPO,phenotype,PHENOTYPE_5702
5703,5703,5703,5703,5703,5703,5703,5703,100939,Sclerosis of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_5703
5704,5704,5704,5704,5704,5704,5704,5704,289,Broad philtrum,HPO,phenotype,PHENOTYPE_5704
5705,5705,5705,5705,5705,5705,5705,5705,25702,Type 1 schizencephaly,HPO,phenotype,PHENOTYPE_5705
5706,5706,5706,5706,5706,5706,5706,5706,32066,Decreased serum bicarbonate concentration,HPO,phenotype,PHENOTYPE_5706
5707,5707,5707,5707,5707,5707,5707,5707,34438,Balanitis,HPO,phenotype,PHENOTYPE_5707
5708,5708,5708,5708,5708,5708,5708,5708,12385,Camptodactyly,HPO,phenotype,PHENOTYPE_5708
5709,5709,5709,5709,5709,5709,5709,5709,33067,Cystine crystalluria,HPO,phenotype,PHENOTYPE_5709
5710,5710,5710,5710,5710,5710,5710,5710,500162,Decreased circulating carnosine concentration,HPO,phenotype,PHENOTYPE_5710
5711,5711,5711,5711,5711,5711,5711,5711,1342,Cerebral hemorrhage,HPO,phenotype,PHENOTYPE_5711
5712,5712,5712,5712,5712,5712,5712,5712,3907,Abnormal humeral metaphysis morphology,HPO,phenotype,PHENOTYPE_5712
5713,5713,5713,5713,5713,5713,5713,5713,11132,Chronic furunculosis,HPO,phenotype,PHENOTYPE_5713
5714,5714,5714,5714,5714,5714,5714,5714,31422,Abnormal cerebellar cortex morphology,HPO,phenotype,PHENOTYPE_5714
5715,5715,5715,5715,5715,5715,5715,5715,3172,Abnormal pubic bone morphology,HPO,phenotype,PHENOTYPE_5715
5716,5716,5716,5716,5716,5716,5716,5716,20072,Persistent EBV viremia,HPO,phenotype,PHENOTYPE_5716
5717,5717,5717,5717,5717,5717,5717,5717,6000605,Elevated urinary 7-hydroxyoctanoic acid level,HPO,phenotype,PHENOTYPE_5717
5718,5718,5718,5718,5718,5718,5718,5718,2362,Shuffling gait,HPO,phenotype,PHENOTYPE_5718
5719,5719,5719,5719,5719,5719,5719,5719,100362,Aplasia of the phalanges of the 3rd toe,HPO,phenotype,PHENOTYPE_5719
5720,5720,5720,5720,5720,5720,5720,5720,100778,Cryoglobulinemia,HPO,phenotype,PHENOTYPE_5720
5721,5721,5721,5721,5721,5721,5721,5721,7833,Anterior chamber synechiae,HPO,phenotype,PHENOTYPE_5721
5722,5722,5722,5722,5722,5722,5722,5722,1544,Prominent umbilicus,HPO,phenotype,PHENOTYPE_5722
5723,5723,5723,5723,5723,5723,5723,5723,239,Large fontanelles,HPO,phenotype,PHENOTYPE_5723
5724,5724,5724,5724,5724,5724,5724,5724,3833,Laterally deficient tibial plateaux,HPO,phenotype,PHENOTYPE_5724
5725,5725,5725,5725,5725,5725,5725,5725,30610,Photoreceptor outer segment loss on macular OCT,HPO,phenotype,PHENOTYPE_5725
5726,5726,5726,5726,5726,5726,5726,5726,5200100,Facial expressions not directed to others,HPO,phenotype,PHENOTYPE_5726
5727,5727,5727,5727,5727,5727,5727,5727,7899,Retinal nonattachment,HPO,phenotype,PHENOTYPE_5727
5728,5728,5728,5728,5728,5728,5728,5728,34357,Impaired renal tubular reabsorption of glucose,HPO,phenotype,PHENOTYPE_5728
5729,5729,5729,5729,5729,5729,5729,5729,31790,Mixed astigmatism,HPO,phenotype,PHENOTYPE_5729
5730,5730,5730,5730,5730,5730,5730,5730,12787,Recurrent pyelonephritis,HPO,phenotype,PHENOTYPE_5730
5731,5731,5731,5731,5731,5731,5731,5731,6000483,Empty sella turcica,HPO,phenotype,PHENOTYPE_5731
5732,5732,5732,5732,5732,5732,5732,5732,11348,Abnormal sixth cranial nerve morphology,HPO,phenotype,PHENOTYPE_5732
5733,5733,5733,5733,5733,5733,5733,5733,10315,Aplasia/Hypoplasia of the diaphragm,HPO,phenotype,PHENOTYPE_5733
5734,5734,5734,5734,5734,5734,5734,5734,12796,Increased cup-to-disc ratio,HPO,phenotype,PHENOTYPE_5734
5735,5735,5735,5735,5735,5735,5735,5735,100156,Triangular epiphysis of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_5735
5736,5736,5736,5736,5736,5736,5736,5736,25302,Diurnal,HPO,phenotype,PHENOTYPE_5736
5737,5737,5737,5737,5737,5737,5737,5737,34605,Elevated CSF DOPA concentration,HPO,phenotype,PHENOTYPE_5737
5738,5738,5738,5738,5738,5738,5738,5738,7179,Absent smooth pursuit,HPO,phenotype,PHENOTYPE_5738
5739,5739,5739,5739,5739,5739,5739,5739,32612,Triphalangeal hallux,HPO,phenotype,PHENOTYPE_5739
5740,5740,5740,5740,5740,5740,5740,5740,6001077,Exacerbated by excessive sweating,HPO,phenotype,PHENOTYPE_5740
5741,5741,5741,5741,5741,5741,5741,5741,40063,Decreased adipose tissue,HPO,phenotype,PHENOTYPE_5741
5742,5742,5742,5742,5742,5742,5742,5742,2164,Nail dysplasia,HPO,phenotype,PHENOTYPE_5742
5743,5743,5743,5743,5743,5743,5743,5743,34556,Deficit at segmental level,HPO,phenotype,PHENOTYPE_5743
5744,5744,5744,5744,5744,5744,5744,5744,4242,Broad carpal bones,HPO,phenotype,PHENOTYPE_5744
5745,5745,5745,5745,5745,5745,5745,5745,34658,Elevated urine propionylglycine level,HPO,phenotype,PHENOTYPE_5745
5746,5746,5746,5746,5746,5746,5746,5746,30730,Parietal meningocele,HPO,phenotype,PHENOTYPE_5746
5747,5747,5747,5747,5747,5747,5747,5747,10278,Triangular epiphyses of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_5747
5748,5748,5748,5748,5748,5748,5748,5748,12367,Extra fontanelles,HPO,phenotype,PHENOTYPE_5748
5749,5749,5749,5749,5749,5749,5749,5749,34236,Apnea of prematurity,HPO,phenotype,PHENOTYPE_5749
5750,5750,5750,5750,5750,5750,5750,5750,1095,Hypertensive retinopathy,HPO,phenotype,PHENOTYPE_5750
5751,5751,5751,5751,5751,5751,5751,5751,7039,Symmetric lesions of the basal ganglia,HPO,phenotype,PHENOTYPE_5751
5752,5752,5752,5752,5752,5752,5752,5752,25567,Central serous chorioretinopathy,HPO,phenotype,PHENOTYPE_5752
5753,5753,5753,5753,5753,5753,5753,5753,4000120,Triggered by nickel,HPO,phenotype,PHENOTYPE_5753
5754,5754,5754,5754,5754,5754,5754,5754,6000539,History of recent cat bite,HPO,phenotype,PHENOTYPE_5754
5755,5755,5755,5755,5755,5755,5755,5755,11936,Decreased plasma total carnitine,HPO,phenotype,PHENOTYPE_5755
5756,5756,5756,5756,5756,5756,5756,5756,5967,Mixed respiratory and metabolic acidosis,HPO,phenotype,PHENOTYPE_5756
5757,5757,5757,5757,5757,5757,5757,5757,636,Upper eyelid coloboma,HPO,phenotype,PHENOTYPE_5757
5758,5758,5758,5758,5758,5758,5758,5758,6000624,Nipple epidermal Paget cells,HPO,phenotype,PHENOTYPE_5758
5759,5759,5759,5759,5759,5759,5759,5759,2312,Clumsiness,HPO,phenotype,PHENOTYPE_5759
5760,5760,5760,5760,5760,5760,5760,5760,25049,Abnormal brain creatine level by MRS,HPO,phenotype,PHENOTYPE_5760
5761,5761,5761,5761,5761,5761,5761,5761,531,Corneal crystals,HPO,phenotype,PHENOTYPE_5761
5762,5762,5762,5762,5762,5762,5762,5762,500212,Increased CSF threonine concentration,HPO,phenotype,PHENOTYPE_5762
5763,5763,5763,5763,5763,5763,5763,5763,6000492,Anti-factor V antibody positivity,HPO,phenotype,PHENOTYPE_5763
5764,5764,5764,5764,5764,5764,5764,5764,6000981,Splenic granulomatosis,HPO,phenotype,PHENOTYPE_5764
5765,5765,5765,5765,5765,5765,5765,5765,500208,Increased CSF lysine concentration,HPO,phenotype,PHENOTYPE_5765
5766,5766,5766,5766,5766,5766,5766,5766,3187,Breast hypoplasia,HPO,phenotype,PHENOTYPE_5766
5767,5767,5767,5767,5767,5767,5767,5767,6000553,Bloodstream Malaria parasite,HPO,phenotype,PHENOTYPE_5767
5768,5768,5768,5768,5768,5768,5768,5768,32742,Focal aware emotional seizure with pleasure,HPO,phenotype,PHENOTYPE_5768
5769,5769,5769,5769,5769,5769,5769,5769,33708,Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity,HPO,phenotype,PHENOTYPE_5769
5770,5770,5770,5770,5770,5770,5770,5770,31464,Genital blistering,HPO,phenotype,PHENOTYPE_5770
5771,5771,5771,5771,5771,5771,5771,5771,11567,Sinus venosus atrial septal defect,HPO,phenotype,PHENOTYPE_5771
5772,5772,5772,5772,5772,5772,5772,5772,6000582,Positive synonvial fluid culture,HPO,phenotype,PHENOTYPE_5772
5773,5773,5773,5773,5773,5773,5773,5773,100716,Self-injurious behavior,HPO,phenotype,PHENOTYPE_5773
5774,5774,5774,5774,5774,5774,5774,5774,9921,Duane anomaly,HPO,phenotype,PHENOTYPE_5774
5775,5775,5775,5775,5775,5775,5775,5775,25778,Thought echo,HPO,phenotype,PHENOTYPE_5775
5776,5776,5776,5776,5776,5776,5776,5776,5982,Reduced phenylalanine hydroxylase level,HPO,phenotype,PHENOTYPE_5776
5777,5777,5777,5777,5777,5777,5777,5777,31303,Femoral arterial calcification,HPO,phenotype,PHENOTYPE_5777
5778,5778,5778,5778,5778,5778,5778,5778,40217,Elevated hemoglobin A1c,HPO,phenotype,PHENOTYPE_5778
5779,5779,5779,5779,5779,5779,5779,5779,31452,Lichenoid skin lesion,HPO,phenotype,PHENOTYPE_5779
5780,5780,5780,5780,5780,5780,5780,5780,12360,Decreased fucosylation of O-linked protein glycosylation,HPO,phenotype,PHENOTYPE_5780
5781,5781,5781,5781,5781,5781,5781,5781,100417,Partial duplication of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_5781
5782,5782,5782,5782,5782,5782,5782,5782,9666,Cone-shaped epiphysis of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_5782
5783,5783,5783,5783,5783,5783,5783,5783,5201005,Complete cleft soft palate,HPO,phenotype,PHENOTYPE_5783
5784,5784,5784,5784,5784,5784,5784,5784,6466,Ankle flexion contracture,HPO,phenotype,PHENOTYPE_5784
5785,5785,5785,5785,5785,5785,5785,5785,7381,Congenital exfoliative erythroderma,HPO,phenotype,PHENOTYPE_5785
5786,5786,5786,5786,5786,5786,5786,5786,100219,Ivory epiphysis of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_5786
5787,5787,5787,5787,5787,5787,5787,5787,9773,Symphalangism affecting the phalanges of the hand,HPO,phenotype,PHENOTYPE_5787
5788,5788,5788,5788,5788,5788,5788,5788,6000245,Elevated circulating granulocyte-macrophage colony-stimulating factor concentration,HPO,phenotype,PHENOTYPE_5788
5789,5789,5789,5789,5789,5789,5789,5789,7159,Fluctuations in consciousness,HPO,phenotype,PHENOTYPE_5789
5790,5790,5790,5790,5790,5790,5790,5790,6000054,Multiparity,HPO,phenotype,PHENOTYPE_5790
5791,5791,5791,5791,5791,5791,5791,5791,12679,Widened interpedicular distance,HPO,phenotype,PHENOTYPE_5791
5792,5792,5792,5792,5792,5792,5792,5792,32185,Disseminated molluscum contagiosum,HPO,phenotype,PHENOTYPE_5792
5793,5793,5793,5793,5793,5793,5793,5793,3198,Myopathy,HPO,phenotype,PHENOTYPE_5793
5794,5794,5794,5794,5794,5794,5794,5794,30784,Anomic aphasia,HPO,phenotype,PHENOTYPE_5794
5795,5795,5795,5795,5795,5795,5795,5795,4370,Abnormality of temperature regulation,HPO,phenotype,PHENOTYPE_5795
5796,5796,5796,5796,5796,5796,5796,5796,12902,Myotonia of the lower limb,HPO,phenotype,PHENOTYPE_5796
5797,5797,5797,5797,5797,5797,5797,5797,5200231,Hypervigilance,HPO,phenotype,PHENOTYPE_5797
5798,5798,5798,5798,5798,5798,5798,5798,8802,Hypoplasia of the femoral head,HPO,phenotype,PHENOTYPE_5798
5799,5799,5799,5799,5799,5799,5799,5799,33642,Mitral valve leaflet calcification,HPO,phenotype,PHENOTYPE_5799
5800,5800,5800,5800,5800,5800,5800,5800,9401,Small epiphyses of the 4th finger,HPO,phenotype,PHENOTYPE_5800
5801,5801,5801,5801,5801,5801,5801,5801,6000872,Aplasia/Hypoplasia of the calvaria,HPO,phenotype,PHENOTYPE_5801
5802,5802,5802,5802,5802,5802,5802,5802,5567,Renal magnesium wasting,HPO,phenotype,PHENOTYPE_5802
5803,5803,5803,5803,5803,5803,5803,5803,6000185,Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio,HPO,phenotype,PHENOTYPE_5803
5804,5804,5804,5804,5804,5804,5804,5804,31626,Coronary ostial atresia,HPO,phenotype,PHENOTYPE_5804
5805,5805,5805,5805,5805,5805,5805,5805,46508,Abnormal cervical spine morphology,HPO,phenotype,PHENOTYPE_5805
5806,5806,5806,5806,5806,5806,5806,5806,6000810,Thickened femoral cortex,HPO,phenotype,PHENOTYPE_5806
5807,5807,5807,5807,5807,5807,5807,5807,12211,Abnormal renal physiology,HPO,phenotype,PHENOTYPE_5807
5808,5808,5808,5808,5808,5808,5808,5808,9580,Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_5808
5809,5809,5809,5809,5809,5809,5809,5809,11078,Abnormality of canine,HPO,phenotype,PHENOTYPE_5809
5810,5810,5810,5810,5810,5810,5810,5810,8956,Proximal lower limb amyotrophy,HPO,phenotype,PHENOTYPE_5810
5811,5811,5811,5811,5811,5811,5811,5811,9976,Duplication of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_5811
5812,5812,5812,5812,5812,5812,5812,5812,430141,CSF varicella zoster antibody positivity,HPO,phenotype,PHENOTYPE_5812
5813,5813,5813,5813,5813,5813,5813,5813,10884,Acromelia,HPO,phenotype,PHENOTYPE_5813
5814,5814,5814,5814,5814,5814,5814,5814,25374,Duplicated odontoid process,HPO,phenotype,PHENOTYPE_5814
5815,5815,5815,5815,5815,5815,5815,5815,7149,Distal upper limb amyotrophy,HPO,phenotype,PHENOTYPE_5815
5816,5816,5816,5816,5816,5816,5816,5816,12721,Venous malformation,HPO,phenotype,PHENOTYPE_5816
5817,5817,5817,5817,5817,5817,5817,5817,31146,Impaired oral bolus formation,HPO,phenotype,PHENOTYPE_5817
5818,5818,5818,5818,5818,5818,5818,5818,4493,Craniofacial hyperostosis,HPO,phenotype,PHENOTYPE_5818
5819,5819,5819,5819,5819,5819,5819,5819,541,Retinal detachment,HPO,phenotype,PHENOTYPE_5819
5820,5820,5820,5820,5820,5820,5820,5820,7338,Hypermetric saccades,HPO,phenotype,PHENOTYPE_5820
5821,5821,5821,5821,5821,5821,5821,5821,4285,Overmodelled hand bones,HPO,phenotype,PHENOTYPE_5821
5822,5822,5822,5822,5822,5822,5822,5822,2883,Hyperventilation,HPO,phenotype,PHENOTYPE_5822
5823,5823,5823,5823,5823,5823,5823,5823,34938,Decreased circulating sialic acid concentration,HPO,phenotype,PHENOTYPE_5823
5824,5824,5824,5824,5824,5824,5824,5824,2926,Abnormality of thyroid physiology,HPO,phenotype,PHENOTYPE_5824
5825,5825,5825,5825,5825,5825,5825,5825,12786,Recurrent cystitis,HPO,phenotype,PHENOTYPE_5825
5826,5826,5826,5826,5826,5826,5826,5826,410193,Abnormal circulating UDP glucose-4-epimerase concentration,HPO,phenotype,PHENOTYPE_5826
5827,5827,5827,5827,5827,5827,5827,5827,5200069,Spinning,HPO,phenotype,PHENOTYPE_5827
5828,5828,5828,5828,5828,5828,5828,5828,12660,Thalamic hypometabolism in FDG PET,HPO,phenotype,PHENOTYPE_5828
5829,5829,5829,5829,5829,5829,5829,5829,100133,Abnormality of the pubic hair,HPO,phenotype,PHENOTYPE_5829
5830,5830,5830,5830,5830,5830,5830,5830,8301,Dermatan sulfate excretion in urine,HPO,phenotype,PHENOTYPE_5830
5831,5831,5831,5831,5831,5831,5831,5831,7131,Acute demyelinating polyneuropathy,HPO,phenotype,PHENOTYPE_5831
5832,5832,5832,5832,5832,5832,5832,5832,33547,Mesangial immunotactoid deposits,HPO,phenotype,PHENOTYPE_5832
5833,5833,5833,5833,5833,5833,5833,5833,5353,Recurrent herpes,HPO,phenotype,PHENOTYPE_5833
5834,5834,5834,5834,5834,5834,5834,5834,33566,Abnormal ventricular axis,HPO,phenotype,PHENOTYPE_5834
5835,5835,5835,5835,5835,5835,5835,5835,5185,Global systolic dysfunction,HPO,phenotype,PHENOTYPE_5835
5836,5836,5836,5836,5836,5836,5836,5836,31870,Phosphohydroxylysinuria,HPO,phenotype,PHENOTYPE_5836
5837,5837,5837,5837,5837,5837,5837,5837,5008,Large joint dislocations,HPO,phenotype,PHENOTYPE_5837
5838,5838,5838,5838,5838,5838,5838,5838,410344,Shortened O-fucosylated glycan on properdin,HPO,phenotype,PHENOTYPE_5838
5839,5839,5839,5839,5839,5839,5839,5839,6000530,Serpentine skin location,HPO,phenotype,PHENOTYPE_5839
5840,5840,5840,5840,5840,5840,5840,5840,41214,Fractured proximal phalanx of digit 5,HPO,phenotype,PHENOTYPE_5840
5841,5841,5841,5841,5841,5841,5841,5841,100590,Rectal fistula,HPO,phenotype,PHENOTYPE_5841
5842,5842,5842,5842,5842,5842,5842,5842,35001,Reduced lamina lucida anchoring filament density,HPO,phenotype,PHENOTYPE_5842
5843,5843,5843,5843,5843,5843,5843,5843,4000076,Use of another person's body to communicate,HPO,phenotype,PHENOTYPE_5843
5844,5844,5844,5844,5844,5844,5844,5844,7229,Intracerebral periventricular calcifications,HPO,phenotype,PHENOTYPE_5844
5845,5845,5845,5845,5845,5845,5845,5845,3000069,Abnormality of lateral rectus extra-ocular muscle,HPO,phenotype,PHENOTYPE_5845
5846,5846,5846,5846,5846,5846,5846,5846,31197,Cellular urinary casts,HPO,phenotype,PHENOTYPE_5846
5847,5847,5847,5847,5847,5847,5847,5847,9101,Submucous cleft lip,HPO,phenotype,PHENOTYPE_5847
5848,5848,5848,5848,5848,5848,5848,5848,12495,Posterior cerebral artery stenosis,HPO,phenotype,PHENOTYPE_5848
5849,5849,5849,5849,5849,5849,5849,5849,4792,Rectoperineal fistula,HPO,phenotype,PHENOTYPE_5849
5850,5850,5850,5850,5850,5850,5850,5850,31284,Flushing,HPO,phenotype,PHENOTYPE_5850
5851,5851,5851,5851,5851,5851,5851,5851,230,Gingivitis,HPO,phenotype,PHENOTYPE_5851
5852,5852,5852,5852,5852,5852,5852,5852,30808,Ragged cuticle,HPO,phenotype,PHENOTYPE_5852
5853,5853,5853,5853,5853,5853,5853,5853,4390,Hamartomatous polyposis,HPO,phenotype,PHENOTYPE_5853
5854,5854,5854,5854,5854,5854,5854,5854,497,Globe retraction and deviation on abduction,HPO,phenotype,PHENOTYPE_5854
5855,5855,5855,5855,5855,5855,5855,5855,25695,Mucus plug,HPO,phenotype,PHENOTYPE_5855
5856,5856,5856,5856,5856,5856,5856,5856,33256,Pancolitis,HPO,phenotype,PHENOTYPE_5856
5857,5857,5857,5857,5857,5857,5857,5857,30654,Umbilical cord cyst,HPO,phenotype,PHENOTYPE_5857
5858,5858,5858,5858,5858,5858,5858,5858,31537,Anomalous origin of the left circumflex artery from the right coronary artery,HPO,phenotype,PHENOTYPE_5858
5859,5859,5859,5859,5859,5859,5859,5859,4900,Severe lactic acidosis,HPO,phenotype,PHENOTYPE_5859
5860,5860,5860,5860,5860,5860,5860,5860,10564,Bifid epiglottis,HPO,phenotype,PHENOTYPE_5860
5861,5861,5861,5861,5861,5861,5861,5861,31425,Increased circulating beta-C-terminal telopeptide concentration,HPO,phenotype,PHENOTYPE_5861
5862,5862,5862,5862,5862,5862,5862,5862,31813,Colonic eosinophilia,HPO,phenotype,PHENOTYPE_5862
5863,5863,5863,5863,5863,5863,5863,5863,34680,Forefoot adduction contracture,HPO,phenotype,PHENOTYPE_5863
5864,5864,5864,5864,5864,5864,5864,5864,32677,Generalized-onset motor seizure,HPO,phenotype,PHENOTYPE_5864
5865,5865,5865,5865,5865,5865,5865,5865,34494,Opacified paranasal sinuses,HPO,phenotype,PHENOTYPE_5865
5866,5866,5866,5866,5866,5866,5866,5866,3964,Osteoporotic forearm bones,HPO,phenotype,PHENOTYPE_5866
5867,5867,5867,5867,5867,5867,5867,5867,11474,Childhood onset sensorineural hearing impairment,HPO,phenotype,PHENOTYPE_5867
5868,5868,5868,5868,5868,5868,5868,5868,40035,Abnormality of the fourth metatarsal bone,HPO,phenotype,PHENOTYPE_5868
5869,5869,5869,5869,5869,5869,5869,5869,100234,Triangular epiphysis of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_5869
5870,5870,5870,5870,5870,5870,5870,5870,12671,Abulia,HPO,phenotype,PHENOTYPE_5870
5871,5871,5871,5871,5871,5871,5871,5871,31345,Colonic arteriovenous malformation,HPO,phenotype,PHENOTYPE_5871
5872,5872,5872,5872,5872,5872,5872,5872,9948,Duplication of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_5872
5873,5873,5873,5873,5873,5873,5873,5873,10387,Osteolytic defects of the phalanges of the 5th toe,HPO,phenotype,PHENOTYPE_5873
5874,5874,5874,5874,5874,5874,5874,5874,1475,Male-limited expression,HPO,phenotype,PHENOTYPE_5874
5875,5875,5875,5875,5875,5875,5875,5875,882,Hypoplastic scapulae,HPO,phenotype,PHENOTYPE_5875
5876,5876,5876,5876,5876,5876,5876,5876,12659,Prefrontal hypometabolism in FDG PET,HPO,phenotype,PHENOTYPE_5876
5877,5877,5877,5877,5877,5877,5877,5877,33265,Podocyte myelin figures,HPO,phenotype,PHENOTYPE_5877
5878,5878,5878,5878,5878,5878,5878,5878,25780,Abnormal volitional state,HPO,phenotype,PHENOTYPE_5878
5879,5879,5879,5879,5879,5879,5879,5879,25096,Paroxysmal sneezing,HPO,phenotype,PHENOTYPE_5879
5880,5880,5880,5880,5880,5880,5880,5880,33717,EEG with temporal epileptiform discharges,HPO,phenotype,PHENOTYPE_5880
5881,5881,5881,5881,5881,5881,5881,5881,6094,Finger joint hypermobility,HPO,phenotype,PHENOTYPE_5881
5882,5882,5882,5882,5882,5882,5882,5882,7384,Aberrant melanosome maturation,HPO,phenotype,PHENOTYPE_5882
5883,5883,5883,5883,5883,5883,5883,5883,33391,Bronchial artery hypertrophy,HPO,phenotype,PHENOTYPE_5883
5884,5884,5884,5884,5884,5884,5884,5884,200136,Oral-pharyngeal dysphagia,HPO,phenotype,PHENOTYPE_5884
5885,5885,5885,5885,5885,5885,5885,5885,11654,Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis,HPO,phenotype,PHENOTYPE_5885
5886,5886,5886,5886,5886,5886,5886,5886,11853,Serous pericardial effusion,HPO,phenotype,PHENOTYPE_5886
5887,5887,5887,5887,5887,5887,5887,5887,100645,Cystocele,HPO,phenotype,PHENOTYPE_5887
5888,5888,5888,5888,5888,5888,5888,5888,6089,Palmar hyperhidrosis,HPO,phenotype,PHENOTYPE_5888
5889,5889,5889,5889,5889,5889,5889,5889,100845,Anaphylactic shock,HPO,phenotype,PHENOTYPE_5889
5890,5890,5890,5890,5890,5890,5890,5890,32608,Thyroidization-type tubular atrophy,HPO,phenotype,PHENOTYPE_5890
5891,5891,5891,5891,5891,5891,5891,5891,6000243,Reduced circulating cortisol-binding globulin concentration,HPO,phenotype,PHENOTYPE_5891
5892,5892,5892,5892,5892,5892,5892,5892,6000698,Elevated circulating heptacarboxylporphyrin concentration,HPO,phenotype,PHENOTYPE_5892
5893,5893,5893,5893,5893,5893,5893,5893,11425,Fetal ultrasound soft marker,HPO,phenotype,PHENOTYPE_5893
5894,5894,5894,5894,5894,5894,5894,5894,4609,Patchy distortion of vertebrae,HPO,phenotype,PHENOTYPE_5894
5895,5895,5895,5895,5895,5895,5895,5895,34027,Abnormal urinary non-proteinogenic amino acid level,HPO,phenotype,PHENOTYPE_5895
5896,5896,5896,5896,5896,5896,5896,5896,25682,Crouch gait,HPO,phenotype,PHENOTYPE_5896
5897,5897,5897,5897,5897,5897,5897,5897,2510,Spastic tetraplegia,HPO,phenotype,PHENOTYPE_5897
5898,5898,5898,5898,5898,5898,5898,5898,32980,Absent bronchoalveolar surfactant-protein C,HPO,phenotype,PHENOTYPE_5898
5899,5899,5899,5899,5899,5899,5899,5899,5345,Abnormal vena cava morphology,HPO,phenotype,PHENOTYPE_5899
5900,5900,5900,5900,5900,5900,5900,5900,7086,Social and occupational deterioration,HPO,phenotype,PHENOTYPE_5900
5901,5901,5901,5901,5901,5901,5901,5901,12275,Autosomal dominant inheritance with maternal imprinting,HPO,phenotype,PHENOTYPE_5901
5902,5902,5902,5902,5902,5902,5902,5902,5200353,Hypnopompic sleep paralysis,HPO,phenotype,PHENOTYPE_5902
5903,5903,5903,5903,5903,5903,5903,5903,5767,1-2 toe complete cutaneous syndactyly,HPO,phenotype,PHENOTYPE_5903
5904,5904,5904,5904,5904,5904,5904,5904,20149,Elevated circulating succinate,HPO,phenotype,PHENOTYPE_5904
5905,5905,5905,5905,5905,5905,5905,5905,6000529,Synchronous skin lesions,HPO,phenotype,PHENOTYPE_5905
5906,5906,5906,5906,5906,5906,5906,5906,30714,Subchorionic thrombohematoma,HPO,phenotype,PHENOTYPE_5906
5907,5907,5907,5907,5907,5907,5907,5907,33574,Anti-H3 antibody positivity,HPO,phenotype,PHENOTYPE_5907
5908,5908,5908,5908,5908,5908,5908,5908,30490,Exudative vitreoretinopathy,HPO,phenotype,PHENOTYPE_5908
5909,5909,5909,5909,5909,5909,5909,5909,33790,Thistle tube shaped pulp,HPO,phenotype,PHENOTYPE_5909
5910,5910,5910,5910,5910,5910,5910,5910,6156,Ulnar deviation of thumb,HPO,phenotype,PHENOTYPE_5910
5911,5911,5911,5911,5911,5911,5911,5911,33862,Cortical peritubular capillaritis,HPO,phenotype,PHENOTYPE_5911
5912,5912,5912,5912,5912,5912,5912,5912,10991,Abnormal morphology of the abdominal musculature,HPO,phenotype,PHENOTYPE_5912
5913,5913,5913,5913,5913,5913,5913,5913,11673,Cardiac hemangioma,HPO,phenotype,PHENOTYPE_5913
5914,5914,5914,5914,5914,5914,5914,5914,33122,Absent P wave,HPO,phenotype,PHENOTYPE_5914
5915,5915,5915,5915,5915,5915,5915,5915,20218,Focal aware atonic seizure,HPO,phenotype,PHENOTYPE_5915
5916,5916,5916,5916,5916,5916,5916,5916,10800,Absent cupid's bow,HPO,phenotype,PHENOTYPE_5916
5917,5917,5917,5917,5917,5917,5917,5917,6107,Fingerpad telangiectases,HPO,phenotype,PHENOTYPE_5917
5918,5918,5918,5918,5918,5918,5918,5918,100855,Triceps hypoplasia,HPO,phenotype,PHENOTYPE_5918
5919,5919,5919,5919,5919,5919,5919,5919,25066,Decreased mean corpuscular volume,HPO,phenotype,PHENOTYPE_5919
5920,5920,5920,5920,5920,5920,5920,5920,25637,Vasospasm,HPO,phenotype,PHENOTYPE_5920
5921,5921,5921,5921,5921,5921,5921,5921,32770,Focal aware autonomic seizure with erection,HPO,phenotype,PHENOTYPE_5921
5922,5922,5922,5922,5922,5922,5922,5922,4794,Malrotation of small bowel,HPO,phenotype,PHENOTYPE_5922
5923,5923,5923,5923,5923,5923,5923,5923,33417,Elevated circulating hydroxybutyric acid concentration,HPO,phenotype,PHENOTYPE_5923
5924,5924,5924,5924,5924,5924,5924,5924,2403,Positive Romberg sign,HPO,phenotype,PHENOTYPE_5924
5925,5925,5925,5925,5925,5925,5925,5925,32152,Keratosis pilaris,HPO,phenotype,PHENOTYPE_5925
5926,5926,5926,5926,5926,5926,5926,5926,9703,Synostosis involving the 1st metacarpal,HPO,phenotype,PHENOTYPE_5926
5927,5927,5927,5927,5927,5927,5927,5927,25551,Optic nerve misrouting,HPO,phenotype,PHENOTYPE_5927
5928,5928,5928,5928,5928,5928,5928,5928,1549,Abnormal ileum morphology,HPO,phenotype,PHENOTYPE_5928
5929,5929,5929,5929,5929,5929,5929,5929,11618,Pulmonary situs ambiguus with bilateral morphologic right lungs,HPO,phenotype,PHENOTYPE_5929
5930,5930,5930,5930,5930,5930,5930,5930,5200338,Excessive fire setting,HPO,phenotype,PHENOTYPE_5930
5931,5931,5931,5931,5931,5931,5931,5931,25343,Lupus anticoagulant,HPO,phenotype,PHENOTYPE_5931
5932,5932,5932,5932,5932,5932,5932,5932,2973,Abnormal forearm morphology,HPO,phenotype,PHENOTYPE_5932
5933,5933,5933,5933,5933,5933,5933,5933,9223,Stippling of the epiphysis of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_5933
5934,5934,5934,5934,5934,5934,5934,5934,6784,Paranasal sinus hypoplasia,HPO,phenotype,PHENOTYPE_5934
5935,5935,5935,5935,5935,5935,5935,5935,30442,Anal margin squamous cell carcinoma,HPO,phenotype,PHENOTYPE_5935
5936,5936,5936,5936,5936,5936,5936,5936,34816,Mild oligozoospermia,HPO,phenotype,PHENOTYPE_5936
5937,5937,5937,5937,5937,5937,5937,5937,32947,Renal medullary interstitial inflammation,HPO,phenotype,PHENOTYPE_5937
5938,5938,5938,5938,5938,5938,5938,5938,30337,"Elevated CD4-positive, CD25-positive regulatory T cell count",HPO,phenotype,PHENOTYPE_5938
5939,5939,5939,5939,5939,5939,5939,5939,7606,Multiple cutaneous malignancies,HPO,phenotype,PHENOTYPE_5939
5940,5940,5940,5940,5940,5940,5940,5940,31175,Absent cervical vertebra,HPO,phenotype,PHENOTYPE_5940
5941,5941,5941,5941,5941,5941,5941,5941,1803,Nail pits,HPO,phenotype,PHENOTYPE_5941
5942,5942,5942,5942,5942,5942,5942,5942,4269,Subluxation of the small joints of the hand,HPO,phenotype,PHENOTYPE_5942
5943,5943,5943,5943,5943,5943,5943,5943,12565,Premature epimetaphyseal fusion in fibula,HPO,phenotype,PHENOTYPE_5943
5944,5944,5944,5944,5944,5944,5944,5944,4948,Vascular tortuosity,HPO,phenotype,PHENOTYPE_5944
5945,5945,5945,5945,5945,5945,5945,5945,32189,Cellular hypersensitivity to diepoxybutane,HPO,phenotype,PHENOTYPE_5945
5946,5946,5946,5946,5946,5946,5946,5946,4014,Broad radial epiphyseal plate,HPO,phenotype,PHENOTYPE_5946
5947,5947,5947,5947,5947,5947,5947,5947,20187,Thick pachygyria,HPO,phenotype,PHENOTYPE_5947
5948,5948,5948,5948,5948,5948,5948,5948,31023,Multiple mucosal neuromas,HPO,phenotype,PHENOTYPE_5948
5949,5949,5949,5949,5949,5949,5949,5949,2411,Myokymia,HPO,phenotype,PHENOTYPE_5949
5950,5950,5950,5950,5950,5950,5950,5950,32007,Maceration,HPO,phenotype,PHENOTYPE_5950
5951,5951,5951,5951,5951,5951,5951,5951,33371,Bronchocentric granulomatosis,HPO,phenotype,PHENOTYPE_5951
5952,5952,5952,5952,5952,5952,5952,5952,2033,Poor suck,HPO,phenotype,PHENOTYPE_5952
5953,5953,5953,5953,5953,5953,5953,5953,11781,Thyroid C cell hyperplasia,HPO,phenotype,PHENOTYPE_5953
5954,5954,5954,5954,5954,5954,5954,5954,6000863,Elevated serum-ascites albumin gradient (SAAG),HPO,phenotype,PHENOTYPE_5954
5955,5955,5955,5955,5955,5955,5955,5955,6313,Widely spaced primary teeth,HPO,phenotype,PHENOTYPE_5955
5956,5956,5956,5956,5956,5956,5956,5956,31628,Aborted sudden cardiac death,HPO,phenotype,PHENOTYPE_5956
5957,5957,5957,5957,5957,5957,5957,5957,550004,Verruca plana,HPO,phenotype,PHENOTYPE_5957
5958,5958,5958,5958,5958,5958,5958,5958,9893,Telangiectasia of the ear,HPO,phenotype,PHENOTYPE_5958
5959,5959,5959,5959,5959,5959,5959,5959,33019,Male reproductive system neoplasm,HPO,phenotype,PHENOTYPE_5959
5960,5960,5960,5960,5960,5960,5960,5960,30022,Question mark ear,HPO,phenotype,PHENOTYPE_5960
5961,5961,5961,5961,5961,5961,5961,5961,11029,Internal hemorrhage,HPO,phenotype,PHENOTYPE_5961
5962,5962,5962,5962,5962,5962,5962,5962,32411,Posterior predominant subcortical band heterotopia,HPO,phenotype,PHENOTYPE_5962
5963,5963,5963,5963,5963,5963,5963,5963,32429,Decreased HDL3a concentration,HPO,phenotype,PHENOTYPE_5963
5964,5964,5964,5964,5964,5964,5964,5964,34584,Abnormal pancreatic acinus morphology,HPO,phenotype,PHENOTYPE_5964
5965,5965,5965,5965,5965,5965,5965,5965,34759,Ameliorated by ethosuximide,HPO,phenotype,PHENOTYPE_5965
5966,5966,5966,5966,5966,5966,5966,5966,3976,Constricted radius,HPO,phenotype,PHENOTYPE_5966
5967,5967,5967,5967,5967,5967,5967,5967,45049,Abnormal DLCO,HPO,phenotype,PHENOTYPE_5967
5968,5968,5968,5968,5968,5968,5968,5968,1719,Double outlet right ventricle,HPO,phenotype,PHENOTYPE_5968
5969,5969,5969,5969,5969,5969,5969,5969,34581,Bloodstream Trypanosoma cruzi,HPO,phenotype,PHENOTYPE_5969
5970,5970,5970,5970,5970,5970,5970,5970,12086,Abnormal urinary color,HPO,phenotype,PHENOTYPE_5970
5971,5971,5971,5971,5971,5971,5971,5971,31427,Abnormal circulating osteocalcin level,HPO,phenotype,PHENOTYPE_5971
5972,5972,5972,5972,5972,5972,5972,5972,31835,Abnormal circulating superoxide dismutase activity,HPO,phenotype,PHENOTYPE_5972
5973,5973,5973,5973,5973,5973,5973,5973,32101,Unusual infection,HPO,phenotype,PHENOTYPE_5973
5974,5974,5974,5974,5974,5974,5974,5974,31453,Oral lichenoid lesion,HPO,phenotype,PHENOTYPE_5974
5975,5975,5975,5975,5975,5975,5975,5975,6000989,Slit-like lateral ventricle,HPO,phenotype,PHENOTYPE_5975
5976,5976,5976,5976,5976,5976,5976,5976,6001126,Metacarpal fracture,HPO,phenotype,PHENOTYPE_5976
5977,5977,5977,5977,5977,5977,5977,5977,41046,Increased neutrophil ribosomes,HPO,phenotype,PHENOTYPE_5977
5978,5978,5978,5978,5978,5978,5978,5978,10105,Short first metatarsal,HPO,phenotype,PHENOTYPE_5978
5979,5979,5979,5979,5979,5979,5979,5979,33667,Diminished mental health,HPO,phenotype,PHENOTYPE_5979
5980,5980,5980,5980,5980,5980,5980,5980,20054,Abnormal erythrocyte physiology,HPO,phenotype,PHENOTYPE_5980
5981,5981,5981,5981,5981,5981,5981,5981,8683,Enlarged labia minora,HPO,phenotype,PHENOTYPE_5981
5982,5982,5982,5982,5982,5982,5982,5982,12719,Functional abnormality of the gastrointestinal tract,HPO,phenotype,PHENOTYPE_5982
5983,5983,5983,5983,5983,5983,5983,5983,100689,Decreased corneal thickness,HPO,phenotype,PHENOTYPE_5983
5984,5984,5984,5984,5984,5984,5984,5984,40004,Abnormality of corneal shape,HPO,phenotype,PHENOTYPE_5984
5985,5985,5985,5985,5985,5985,5985,5985,6001085,Posterior fossa mass lesion,HPO,phenotype,PHENOTYPE_5985
5986,5986,5986,5986,5986,5986,5986,5986,2566,Intestinal malrotation,HPO,phenotype,PHENOTYPE_5986
5987,5987,5987,5987,5987,5987,5987,5987,32671,Non-convulsive status epilepticus without coma,HPO,phenotype,PHENOTYPE_5987
5988,5988,5988,5988,5988,5988,5988,5988,2638,Superficial thrombophlebitis,HPO,phenotype,PHENOTYPE_5988
5989,5989,5989,5989,5989,5989,5989,5989,4000125,Recent honey ingestion,HPO,phenotype,PHENOTYPE_5989
5990,5990,5990,5990,5990,5990,5990,5990,9515,Cone-shaped epiphysis of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_5990
5991,5991,5991,5991,5991,5991,5991,5991,34726,Elevated circulating beta-mannosidase activity,HPO,phenotype,PHENOTYPE_5991
5992,5992,5992,5992,5992,5992,5992,5992,34942,Vaginal myxoma,HPO,phenotype,PHENOTYPE_5992
5993,5993,5993,5993,5993,5993,5993,5993,25626,Increased circulating oleate level,HPO,phenotype,PHENOTYPE_5993
5994,5994,5994,5994,5994,5994,5994,5994,20282,Abnormal lymph-node lymphocyte chromatin,HPO,phenotype,PHENOTYPE_5994
5995,5995,5995,5995,5995,5995,5995,5995,12852,Hepatic bridging fibrosis,HPO,phenotype,PHENOTYPE_5995
5996,5996,5996,5996,5996,5996,5996,5996,8491,Premature anterior fontanel closure,HPO,phenotype,PHENOTYPE_5996
5997,5997,5997,5997,5997,5997,5997,5997,6144,Shortening of all proximal phalanges of the fingers,HPO,phenotype,PHENOTYPE_5997
5998,5998,5998,5998,5998,5998,5998,5998,11553,Discordant atrioventricular connection,HPO,phenotype,PHENOTYPE_5998
5999,5999,5999,5999,5999,5999,5999,5999,4411,Deviated nasal septum,HPO,phenotype,PHENOTYPE_5999
6000,6000,6000,6000,6000,6000,6000,6000,10585,Small epiphyses,HPO,phenotype,PHENOTYPE_6000
6001,6001,6001,6001,6001,6001,6001,6001,8776,Abnormal renal artery morphology,HPO,phenotype,PHENOTYPE_6001
6002,6002,6002,6002,6002,6002,6002,6002,33439,Elevated circulating decenoylcarnitine concentration,HPO,phenotype,PHENOTYPE_6002
6003,6003,6003,6003,6003,6003,6003,6003,33188,Cystic acne,HPO,phenotype,PHENOTYPE_6003
6004,6004,6004,6004,6004,6004,6004,6004,8706,Distal urethral duplication,HPO,phenotype,PHENOTYPE_6004
6005,6005,6005,6005,6005,6005,6005,6005,33163,Small intestinal bacterial overgrowth,HPO,phenotype,PHENOTYPE_6005
6006,6006,6006,6006,6006,6006,6006,6006,12452,Restless legs,HPO,phenotype,PHENOTYPE_6006
6007,6007,6007,6007,6007,6007,6007,6007,5200243,Abnormal change in social behavior,HPO,phenotype,PHENOTYPE_6007
6008,6008,6008,6008,6008,6008,6008,6008,33813,Perilobular,HPO,phenotype,PHENOTYPE_6008
6009,6009,6009,6009,6009,6009,6009,6009,4000196,Reduced heparan-alpha-glucosaminide N-acetyltransferase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_6009
6010,6010,6010,6010,6010,6010,6010,6010,100440,Bullet-shaped distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_6010
6011,6011,6011,6011,6011,6011,6011,6011,6000169,History of total parenteral nutrition dependence,HPO,phenotype,PHENOTYPE_6011
6012,6012,6012,6012,6012,6012,6012,6012,40249,Reduced plasminogen activator inhibitor 1 antigen,HPO,phenotype,PHENOTYPE_6012
6013,6013,6013,6013,6013,6013,6013,6013,410352,Increased complex N-glycan level,HPO,phenotype,PHENOTYPE_6013
6014,6014,6014,6014,6014,6014,6014,6014,32862,Status epilepticus with ictal paresis,HPO,phenotype,PHENOTYPE_6014
6015,6015,6015,6015,6015,6015,6015,6015,6000785,Protein craving,HPO,phenotype,PHENOTYPE_6015
6016,6016,6016,6016,6016,6016,6016,6016,2350,Cerebellar cyst,HPO,phenotype,PHENOTYPE_6016
6017,6017,6017,6017,6017,6017,6017,6017,11631,Complete right sided absence of pericardium,HPO,phenotype,PHENOTYPE_6017
6018,6018,6018,6018,6018,6018,6018,6018,41117,Fractured lower limb segment,HPO,phenotype,PHENOTYPE_6018
6019,6019,6019,6019,6019,6019,6019,6019,9197,Bracket epiphysis of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_6019
6020,6020,6020,6020,6020,6020,6020,6020,34597,Decreased CSF creatinine concentration,HPO,phenotype,PHENOTYPE_6020
6021,6021,6021,6021,6021,6021,6021,6021,9211,Small epiphysis of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_6021
6022,6022,6022,6022,6022,6022,6022,6022,100333,Unilateral cleft lip,HPO,phenotype,PHENOTYPE_6022
6023,6023,6023,6023,6023,6023,6023,6023,10802,Perioral hyperpigmentation,HPO,phenotype,PHENOTYPE_6023
6024,6024,6024,6024,6024,6024,6024,6024,5120,Abnormal cardiac atrium morphology,HPO,phenotype,PHENOTYPE_6024
6025,6025,6025,6025,6025,6025,6025,6025,670,Carious teeth,HPO,phenotype,PHENOTYPE_6025
6026,6026,6026,6026,6026,6026,6026,6026,30063,Neuroepithelial neoplasm,HPO,phenotype,PHENOTYPE_6026
6027,6027,6027,6027,6027,6027,6027,6027,33841,Ocular pruritus,HPO,phenotype,PHENOTYPE_6027
6028,6028,6028,6028,6028,6028,6028,6028,31887,Abnormal chylomicron concentration,HPO,phenotype,PHENOTYPE_6028
6029,6029,6029,6029,6029,6029,6029,6029,30814,Orange discolored tonsils,HPO,phenotype,PHENOTYPE_6029
6030,6030,6030,6030,6030,6030,6030,6030,31861,Decreased heart rate variability,HPO,phenotype,PHENOTYPE_6030
6031,6031,6031,6031,6031,6031,6031,6031,1852,Sandal gap,HPO,phenotype,PHENOTYPE_6031
6032,6032,6032,6032,6032,6032,6032,6032,6279,Beta-cell dysfunction,HPO,phenotype,PHENOTYPE_6032
6033,6033,6033,6033,6033,6033,6033,6033,32644,Renal interstitial deposits,HPO,phenotype,PHENOTYPE_6033
6034,6034,6034,6034,6034,6034,6034,6034,31300,Abnormal circulating properdin level,HPO,phenotype,PHENOTYPE_6034
6035,6035,6035,6035,6035,6035,6035,6035,41051,Ageusia,HPO,phenotype,PHENOTYPE_6035
6036,6036,6036,6036,6036,6036,6036,6036,652,Lower eyelid coloboma,HPO,phenotype,PHENOTYPE_6036
6037,6037,6037,6037,6037,6037,6037,6037,4922,Atypical hyperphenylalaninemia,HPO,phenotype,PHENOTYPE_6037
6038,6038,6038,6038,6038,6038,6038,6038,7190,Neuronal loss in the cerebral cortex,HPO,phenotype,PHENOTYPE_6038
6039,6039,6039,6039,6039,6039,6039,6039,6000042,Tinnitus exacerbated by swallowing,HPO,phenotype,PHENOTYPE_6039
6040,6040,6040,6040,6040,6040,6040,6040,10476,Aplasia/Hypoplasia of the bladder,HPO,phenotype,PHENOTYPE_6040
6041,6041,6041,6041,6041,6041,6041,6041,30339,Decreased circulating gonadotropin concentration,HPO,phenotype,PHENOTYPE_6041
6042,6042,6042,6042,6042,6042,6042,6042,1896,Reticulocytopenia,HPO,phenotype,PHENOTYPE_6042
6043,6043,6043,6043,6043,6043,6043,6043,31503,Night gasping,HPO,phenotype,PHENOTYPE_6043
6044,6044,6044,6044,6044,6044,6044,6044,34777,Purulent sputum,HPO,phenotype,PHENOTYPE_6044
6045,6045,6045,6045,6045,6045,6045,6045,5521,Disseminated intravascular coagulation,HPO,phenotype,PHENOTYPE_6045
6046,6046,6046,6046,6046,6046,6046,6046,25708,Early young adult onset,HPO,phenotype,PHENOTYPE_6046
6047,6047,6047,6047,6047,6047,6047,6047,12149,Bilineage myelodysplasia,HPO,phenotype,PHENOTYPE_6047
6048,6048,6048,6048,6048,6048,6048,6048,33000,Subglottic laryngitis,HPO,phenotype,PHENOTYPE_6048
6049,6049,6049,6049,6049,6049,6049,6049,11165,Focal sensory seizure with visual features,HPO,phenotype,PHENOTYPE_6049
6050,6050,6050,6050,6050,6050,6050,6050,33051,Impaired executive functioning,HPO,phenotype,PHENOTYPE_6050
6051,6051,6051,6051,6051,6051,6051,6051,498,Blepharitis,HPO,phenotype,PHENOTYPE_6051
6052,6052,6052,6052,6052,6052,6052,6052,6001086,Irregular RR interval,HPO,phenotype,PHENOTYPE_6052
6053,6053,6053,6053,6053,6053,6053,6053,5068,Absent styloid process of ulna,HPO,phenotype,PHENOTYPE_6053
6054,6054,6054,6054,6054,6054,6054,6054,869,Secondary amenorrhea,HPO,phenotype,PHENOTYPE_6054
6055,6055,6055,6055,6055,6055,6055,6055,3560,Muscular dystrophy,HPO,phenotype,PHENOTYPE_6055
6056,6056,6056,6056,6056,6056,6056,6056,2100,Recurrent aspiration pneumonia,HPO,phenotype,PHENOTYPE_6056
6057,6057,6057,6057,6057,6057,6057,6057,11904,Persistence of hemoglobin F,HPO,phenotype,PHENOTYPE_6057
6058,6058,6058,6058,6058,6058,6058,6058,1498,Carpal bone hypoplasia,HPO,phenotype,PHENOTYPE_6058
6059,6059,6059,6059,6059,6059,6059,6059,40254,Decreased size of the clitoris,HPO,phenotype,PHENOTYPE_6059
6060,6060,6060,6060,6060,6060,6060,6060,34811,Bent sperm flagella,HPO,phenotype,PHENOTYPE_6060
6061,6061,6061,6061,6061,6061,6061,6061,40086,Abnormal prolactin level,HPO,phenotype,PHENOTYPE_6061
6062,6062,6062,6062,6062,6062,6062,6062,410034,Bilateral alveolar cleft of maxilla,HPO,phenotype,PHENOTYPE_6062
6063,6063,6063,6063,6063,6063,6063,6063,8978,Necrotizing myopathy,HPO,phenotype,PHENOTYPE_6063
6064,6064,6064,6064,6064,6064,6064,6064,9522,Stippling of the epiphysis of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_6064
6065,6065,6065,6065,6065,6065,6065,6065,30548,Unaided visual acuity 1.3 LogMAR,HPO,phenotype,PHENOTYPE_6065
6066,6066,6066,6066,6066,6066,6066,6066,9806,Nephrogenic diabetes insipidus,HPO,phenotype,PHENOTYPE_6066
6067,6067,6067,6067,6067,6067,6067,6067,8186,Adrenocortical cytomegaly,HPO,phenotype,PHENOTYPE_6067
6068,6068,6068,6068,6068,6068,6068,6068,11776,Thyroid microfollicular adenoma,HPO,phenotype,PHENOTYPE_6068
6069,6069,6069,6069,6069,6069,6069,6069,32400,Dysgyria with thickened cortex,HPO,phenotype,PHENOTYPE_6069
6070,6070,6070,6070,6070,6070,6070,6070,12161,External carotid artery dissection,HPO,phenotype,PHENOTYPE_6070
6071,6071,6071,6071,6071,6071,6071,6071,11970,Cerebral amyloid angiopathy,HPO,phenotype,PHENOTYPE_6071
6072,6072,6072,6072,6072,6072,6072,6072,6918,Diffuse cerebral sclerosis,HPO,phenotype,PHENOTYPE_6072
6073,6073,6073,6073,6073,6073,6073,6073,33606,Bone marrow maturation arrest,HPO,phenotype,PHENOTYPE_6073
6074,6074,6074,6074,6074,6074,6074,6074,500164,Abnormal blood carbon dioxide level,HPO,phenotype,PHENOTYPE_6074
6075,6075,6075,6075,6075,6075,6075,6075,58,Abnormal labia morphology,HPO,phenotype,PHENOTYPE_6075
6076,6076,6076,6076,6076,6076,6076,6076,31411,Abnormal chromosome morphology,HPO,phenotype,PHENOTYPE_6076
6077,6077,6077,6077,6077,6077,6077,6077,11466,Aplasia/Hypoplasia of the gallbladder,HPO,phenotype,PHENOTYPE_6077
6078,6078,6078,6078,6078,6078,6078,6078,10438,Abnormal ventricular septum morphology,HPO,phenotype,PHENOTYPE_6078
6079,6079,6079,6079,6079,6079,6079,6079,3836,Stippled calcification of the shoulder,HPO,phenotype,PHENOTYPE_6079
6080,6080,6080,6080,6080,6080,6080,6080,4860,Thiamine-responsive megaloblastic anemia,HPO,phenotype,PHENOTYPE_6080
6081,6081,6081,6081,6081,6081,6081,6081,4277,Fractured hand bones,HPO,phenotype,PHENOTYPE_6081
6082,6082,6082,6082,6082,6082,6082,6082,9915,Corneal asymmetry,HPO,phenotype,PHENOTYPE_6082
6083,6083,6083,6083,6083,6083,6083,6083,33025,Chronic absent circulating total IgG,HPO,phenotype,PHENOTYPE_6083
6084,6084,6084,6084,6084,6084,6084,6084,6000206,Reduced CSF pyridoxal-5'-phosphate concentration,HPO,phenotype,PHENOTYPE_6084
6085,6085,6085,6085,6085,6085,6085,6085,12578,Membranous nephropathy,HPO,phenotype,PHENOTYPE_6085
6086,6086,6086,6086,6086,6086,6086,6086,6000960,Serpiginous burrow,HPO,phenotype,PHENOTYPE_6086
6087,6087,6087,6087,6087,6087,6087,6087,6000568,Elevated blood ethylene glycol concentration,HPO,phenotype,PHENOTYPE_6087
6088,6088,6088,6088,6088,6088,6088,6088,45058,Abnormality of the testis size,HPO,phenotype,PHENOTYPE_6088
6089,6089,6089,6089,6089,6089,6089,6089,100118,Pseudoepiphysis of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_6089
6090,6090,6090,6090,6090,6090,6090,6090,11699,Atrial reentry tachycardia,HPO,phenotype,PHENOTYPE_6090
6091,6091,6091,6091,6091,6091,6091,6091,8457,Caudal interpedicular narrowing,HPO,phenotype,PHENOTYPE_6091
6092,6092,6092,6092,6092,6092,6092,6092,10850,EEG with spike-wave complexes,HPO,phenotype,PHENOTYPE_6092
6093,6093,6093,6093,6093,6093,6093,6093,9502,Absent epiphysis of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_6093
6094,6094,6094,6094,6094,6094,6094,6094,25047,Abnormal brain choline level by MRS,HPO,phenotype,PHENOTYPE_6094
6095,6095,6095,6095,6095,6095,6095,6095,410149,Drug-induced anaphylaxis,HPO,phenotype,PHENOTYPE_6095
6096,6096,6096,6096,6096,6096,6096,6096,3359,Decreased urinary sulfate,HPO,phenotype,PHENOTYPE_6096
6097,6097,6097,6097,6097,6097,6097,6097,1112,Leber optic atrophy,HPO,phenotype,PHENOTYPE_6097
6098,6098,6098,6098,6098,6098,6098,6098,11774,Thyroid follicular adenoma,HPO,phenotype,PHENOTYPE_6098
6099,6099,6099,6099,6099,6099,6099,6099,31730,Axial myopia,HPO,phenotype,PHENOTYPE_6099
6100,6100,6100,6100,6100,6100,6100,6100,40246,Reduced antithrombin antigen,HPO,phenotype,PHENOTYPE_6100
6101,6101,6101,6101,6101,6101,6101,6101,32816,Neonatal multifocal myoclonic seizure,HPO,phenotype,PHENOTYPE_6101
6102,6102,6102,6102,6102,6102,6102,6102,12614,Abnormal urine cytology,HPO,phenotype,PHENOTYPE_6102
6103,6103,6103,6103,6103,6103,6103,6103,100471,Symphalangism affecting the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_6103
6104,6104,6104,6104,6104,6104,6104,6104,410189,Increased glucose-6-phosphate dehydrogenase level in red blood cells,HPO,phenotype,PHENOTYPE_6104
6105,6105,6105,6105,6105,6105,6105,6105,100925,Sclerosis of foot bone,HPO,phenotype,PHENOTYPE_6105
6106,6106,6106,6106,6106,6106,6106,6106,41216,Fractured distal epiphysis of distal phalanx of manual digit 1,HPO,phenotype,PHENOTYPE_6106
6107,6107,6107,6107,6107,6107,6107,6107,430025,Bilateral facial palsy,HPO,phenotype,PHENOTYPE_6107
6108,6108,6108,6108,6108,6108,6108,6108,34281,Phalangeal cone-shaped epiphyses,HPO,phenotype,PHENOTYPE_6108
6109,6109,6109,6109,6109,6109,6109,6109,1859,Distal foot symphalangism,HPO,phenotype,PHENOTYPE_6109
6110,6110,6110,6110,6110,6110,6110,6110,7521,Irregular hyperpigmentation of back,HPO,phenotype,PHENOTYPE_6110
6111,6111,6111,6111,6111,6111,6111,6111,11992,Abnormal neutrophil morphology,HPO,phenotype,PHENOTYPE_6111
6112,6112,6112,6112,6112,6112,6112,6112,5780,Absent fourth finger distal interphalangeal crease,HPO,phenotype,PHENOTYPE_6112
6113,6113,6113,6113,6113,6113,6113,6113,25718,Skeletal muscle hyperechogenicity,HPO,phenotype,PHENOTYPE_6113
6114,6114,6114,6114,6114,6114,6114,6114,31308,Vertebral artery calcification,HPO,phenotype,PHENOTYPE_6114
6115,6115,6115,6115,6115,6115,6115,6115,31999,Expiratory crackles,HPO,phenotype,PHENOTYPE_6115
6116,6116,6116,6116,6116,6116,6116,6116,32484,Elevated fecal sodium,HPO,phenotype,PHENOTYPE_6116
6117,6117,6117,6117,6117,6117,6117,6117,8633,Agonadism,HPO,phenotype,PHENOTYPE_6117
6118,6118,6118,6118,6118,6118,6118,6118,6769,Myxoid subcutaneous tumors,HPO,phenotype,PHENOTYPE_6118
6119,6119,6119,6119,6119,6119,6119,6119,32708,Focal aware cognitive seizure with anomia,HPO,phenotype,PHENOTYPE_6119
6120,6120,6120,6120,6120,6120,6120,6120,33210,Congenital alveolar dysplasia,HPO,phenotype,PHENOTYPE_6120
6121,6121,6121,6121,6121,6121,6121,6121,7820,Lacrimal punctal atresia,HPO,phenotype,PHENOTYPE_6121
6122,6122,6122,6122,6122,6122,6122,6122,33602,Glomerular hyaline subepithelial deposits,HPO,phenotype,PHENOTYPE_6122
6123,6123,6123,6123,6123,6123,6123,6123,10807,Open bite,HPO,phenotype,PHENOTYPE_6123
6124,6124,6124,6124,6124,6124,6124,6124,31759,Basic constant esotropia,HPO,phenotype,PHENOTYPE_6124
6125,6125,6125,6125,6125,6125,6125,6125,31156,Decreased platelet glycoprotein Ib,HPO,phenotype,PHENOTYPE_6125
6126,6126,6126,6126,6126,6126,6126,6126,6001172,Increased compartment pressure,HPO,phenotype,PHENOTYPE_6126
6127,6127,6127,6127,6127,6127,6127,6127,9497,Stippling of the epiphyses of the 2nd finger,HPO,phenotype,PHENOTYPE_6127
6128,6128,6128,6128,6128,6128,6128,6128,500211,Abnormal CSF threonine concentration,HPO,phenotype,PHENOTYPE_6128
6129,6129,6129,6129,6129,6129,6129,6129,9013,Congenital absence of gluteal muscles,HPO,phenotype,PHENOTYPE_6129
6130,6130,6130,6130,6130,6130,6130,6130,3537,Hypouricemia,HPO,phenotype,PHENOTYPE_6130
6131,6131,6131,6131,6131,6131,6131,6131,1162,Postaxial hand polydactyly,HPO,phenotype,PHENOTYPE_6131
6132,6132,6132,6132,6132,6132,6132,6132,30590,Abnormal Amsler grid test,HPO,phenotype,PHENOTYPE_6132
6133,6133,6133,6133,6133,6133,6133,6133,7346,Subcortical white matter calcifications,HPO,phenotype,PHENOTYPE_6133
6134,6134,6134,6134,6134,6134,6134,6134,11345,Moderate expressive language delay,HPO,phenotype,PHENOTYPE_6134
6135,6135,6135,6135,6135,6135,6135,6135,5165,Shortened PR interval,HPO,phenotype,PHENOTYPE_6135
6136,6136,6136,6136,6136,6136,6136,6136,25423,Abnormal larynx morphology,HPO,phenotype,PHENOTYPE_6136
6137,6137,6137,6137,6137,6137,6137,6137,2661,Painless fractures due to injury,HPO,phenotype,PHENOTYPE_6137
6138,6138,6138,6138,6138,6138,6138,6138,6000750,Decreased tissue S-adenosylhomocysteine hydrolase activity,HPO,phenotype,PHENOTYPE_6138
6139,6139,6139,6139,6139,6139,6139,6139,25011,Pyriform aperture stenosis,HPO,phenotype,PHENOTYPE_6139
6140,6140,6140,6140,6140,6140,6140,6140,6000244,Decreased circulating thyroglobulin concentration,HPO,phenotype,PHENOTYPE_6140
6141,6141,6141,6141,6141,6141,6141,6141,500041,Myopic astigmatism,HPO,phenotype,PHENOTYPE_6141
6142,6142,6142,6142,6142,6142,6142,6142,1626,Abnormality of the cardiovascular system,HPO,phenotype,PHENOTYPE_6142
6143,6143,6143,6143,6143,6143,6143,6143,5200419,Disorder of thought control,HPO,phenotype,PHENOTYPE_6143
6144,6144,6144,6144,6144,6144,6144,6144,32302,Kappa Bence Jones proteinuria,HPO,phenotype,PHENOTYPE_6144
6145,6145,6145,6145,6145,6145,6145,6145,410294,Decreased specific antibody response to protein vaccine,HPO,phenotype,PHENOTYPE_6145
6146,6146,6146,6146,6146,6146,6146,6146,6000950,Breath-holding spell,HPO,phenotype,PHENOTYPE_6146
6147,6147,6147,6147,6147,6147,6147,6147,500216,Abnormal CSF aspartate concentration,HPO,phenotype,PHENOTYPE_6147
6148,6148,6148,6148,6148,6148,6148,6148,100647,Graves disease,HPO,phenotype,PHENOTYPE_6148
6149,6149,6149,6149,6149,6149,6149,6149,34834,Peripheral nerve polyglucosan inclusion bodies,HPO,phenotype,PHENOTYPE_6149
6150,6150,6150,6150,6150,6150,6150,6150,33147,Abnormal circulating short-chain fatty-acid concentration,HPO,phenotype,PHENOTYPE_6150
6151,6151,6151,6151,6151,6151,6151,6151,6482,Abnormal dental morphology,HPO,phenotype,PHENOTYPE_6151
6152,6152,6152,6152,6152,6152,6152,6152,3779,Antegonial notching of mandible,HPO,phenotype,PHENOTYPE_6152
6153,6153,6153,6153,6153,6153,6153,6153,200070,Peripheral retinal atrophy,HPO,phenotype,PHENOTYPE_6153
6154,6154,6154,6154,6154,6154,6154,6154,34462,Increased CSF L-alloisoleucine concentration,HPO,phenotype,PHENOTYPE_6154
6155,6155,6155,6155,6155,6155,6155,6155,615,Abnormal pupil morphology,HPO,phenotype,PHENOTYPE_6155
6156,6156,6156,6156,6156,6156,6156,6156,32579,Vascular hamartoma,HPO,phenotype,PHENOTYPE_6156
6157,6157,6157,6157,6157,6157,6157,6157,295,Doll-like facies,HPO,phenotype,PHENOTYPE_6157
6158,6158,6158,6158,6158,6158,6158,6158,34291,Elevated circulating creatine concentration,HPO,phenotype,PHENOTYPE_6158
6159,6159,6159,6159,6159,6159,6159,6159,32374,Duffy Fya positivity,HPO,phenotype,PHENOTYPE_6159
6160,6160,6160,6160,6160,6160,6160,6160,34641,Dermal microfilaria,HPO,phenotype,PHENOTYPE_6160
6161,6161,6161,6161,6161,6161,6161,6161,31743,Inferior rectus muscle overaction,HPO,phenotype,PHENOTYPE_6161
6162,6162,6162,6162,6162,6162,6162,6162,4611,Anterior concavity of thoracic vertebrae,HPO,phenotype,PHENOTYPE_6162
6163,6163,6163,6163,6163,6163,6163,6163,30532,Visual acuity test abnormality,HPO,phenotype,PHENOTYPE_6163
6164,6164,6164,6164,6164,6164,6164,6164,3438,Absent Achilles reflex,HPO,phenotype,PHENOTYPE_6164
6165,6165,6165,6165,6165,6165,6165,6165,550005,Bilateral basilar pulmonary fibrosis,HPO,phenotype,PHENOTYPE_6165
6166,6166,6166,6166,6166,6166,6166,6166,41079,Decreased body fat percentage,HPO,phenotype,PHENOTYPE_6166
6167,6167,6167,6167,6167,6167,6167,6167,500133,Hypotyrosinemia,HPO,phenotype,PHENOTYPE_6167
6168,6168,6168,6168,6168,6168,6168,6168,6000203,Elevated CSF cholestanol concentration,HPO,phenotype,PHENOTYPE_6168
6169,6169,6169,6169,6169,6169,6169,6169,25340,Deep episcleral hyperemia,HPO,phenotype,PHENOTYPE_6169
6170,6170,6170,6170,6170,6170,6170,6170,2268,Paroxysmal dystonia,HPO,phenotype,PHENOTYPE_6170
6171,6171,6171,6171,6171,6171,6171,6171,5200429,Religious delusion,HPO,phenotype,PHENOTYPE_6171
6172,6172,6172,6172,6172,6172,6172,6172,33668,Abnormal amygdala morphology,HPO,phenotype,PHENOTYPE_6172
6173,6173,6173,6173,6173,6173,6173,6173,34866,Positive stool infectious agent test,HPO,phenotype,PHENOTYPE_6173
6174,6174,6174,6174,6174,6174,6174,6174,8357,Reduced factor XIII activity,HPO,phenotype,PHENOTYPE_6174
6175,6175,6175,6175,6175,6175,6175,6175,32096,Abnormal manganese concentration,HPO,phenotype,PHENOTYPE_6175
6176,6176,6176,6176,6176,6176,6176,6176,33907,Renal arteriole intima/media arteriolosclerosis,HPO,phenotype,PHENOTYPE_6176
6177,6177,6177,6177,6177,6177,6177,6177,8736,Hypoplasia of penis,HPO,phenotype,PHENOTYPE_6177
6178,6178,6178,6178,6178,6178,6178,6178,30198,Fatigable weakness of distal limb muscles,HPO,phenotype,PHENOTYPE_6178
6179,6179,6179,6179,6179,6179,6179,6179,11998,Postprandial hyperglycemia,HPO,phenotype,PHENOTYPE_6179
6180,6180,6180,6180,6180,6180,6180,6180,34402,Rhabdoid tumor of the kidney,HPO,phenotype,PHENOTYPE_6180
6181,6181,6181,6181,6181,6181,6181,6181,2676,Cloverleaf skull,HPO,phenotype,PHENOTYPE_6181
6182,6182,6182,6182,6182,6182,6182,6182,34480,Absent epididymidis,HPO,phenotype,PHENOTYPE_6182
6183,6183,6183,6183,6183,6183,6183,6183,10721,Abnormal hair whorl,HPO,phenotype,PHENOTYPE_6183
6184,6184,6184,6184,6184,6184,6184,6184,2546,Incomprehensible speech,HPO,phenotype,PHENOTYPE_6184
6185,6185,6185,6185,6185,6185,6185,6185,6000072,Thinning of outer muscular layer of small bowel,HPO,phenotype,PHENOTYPE_6185
6186,6186,6186,6186,6186,6186,6186,6186,30950,Pulmonary venous hypertension,HPO,phenotype,PHENOTYPE_6186
6187,6187,6187,6187,6187,6187,6187,6187,3716,Generalized muscular appearance from birth,HPO,phenotype,PHENOTYPE_6187
6188,6188,6188,6188,6188,6188,6188,6188,8321,Reduced factor X activity,HPO,phenotype,PHENOTYPE_6188
6189,6189,6189,6189,6189,6189,6189,6189,25699,Perisylvian FDG hypermetabolism,HPO,phenotype,PHENOTYPE_6189
6190,6190,6190,6190,6190,6190,6190,6190,3689,Multiple mitochondrial DNA deletions,HPO,phenotype,PHENOTYPE_6190
6191,6191,6191,6191,6191,6191,6191,6191,20086,BCGitis,HPO,phenotype,PHENOTYPE_6191
6192,6192,6192,6192,6192,6192,6192,6192,33918,Renal arteriole medial hypertrophy,HPO,phenotype,PHENOTYPE_6192
6193,6193,6193,6193,6193,6193,6193,6193,45073,Serositis,HPO,phenotype,PHENOTYPE_6193
6194,6194,6194,6194,6194,6194,6194,6194,51,Perineal hypospadias,HPO,phenotype,PHENOTYPE_6194
6195,6195,6195,6195,6195,6195,6195,6195,30686,Increased adiponectin level,HPO,phenotype,PHENOTYPE_6195
6196,6196,6196,6196,6196,6196,6196,6196,10761,Broad columella,HPO,phenotype,PHENOTYPE_6196
6197,6197,6197,6197,6197,6197,6197,6197,10803,Everted upper lip vermilion,HPO,phenotype,PHENOTYPE_6197
6198,6198,6198,6198,6198,6198,6198,6198,32787,Focal impaired awareness sensory seizure,HPO,phenotype,PHENOTYPE_6198
6199,6199,6199,6199,6199,6199,6199,6199,5200018,Stereotypic upper-extremity movements,HPO,phenotype,PHENOTYPE_6199
6200,6200,6200,6200,6200,6200,6200,6200,1558,Decreased fetal movement,HPO,phenotype,PHENOTYPE_6200
6201,6201,6201,6201,6201,6201,6201,6201,32366,Positive direct antiglobulin test,HPO,phenotype,PHENOTYPE_6201
6202,6202,6202,6202,6202,6202,6202,6202,100452,Osteolytic defects of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_6202
6203,6203,6203,6203,6203,6203,6203,6203,6001079,Inappropriately low urine osmolality following challenge,HPO,phenotype,PHENOTYPE_6203
6204,6204,6204,6204,6204,6204,6204,6204,6000333,Reduced hepatic phosphorylase kinase activity,HPO,phenotype,PHENOTYPE_6204
6205,6205,6205,6205,6205,6205,6205,6205,25737,Abnormal subthalamic nucleus morphology,HPO,phenotype,PHENOTYPE_6205
6206,6206,6206,6206,6206,6206,6206,6206,3000062,Abnormal internal carotid artery morphology,HPO,phenotype,PHENOTYPE_6206
6207,6207,6207,6207,6207,6207,6207,6207,25360,Polycalycosis,HPO,phenotype,PHENOTYPE_6207
6208,6208,6208,6208,6208,6208,6208,6208,12165,Oligodactyly,HPO,phenotype,PHENOTYPE_6208
6209,6209,6209,6209,6209,6209,6209,6209,11928,Short proximal phalanx of toe,HPO,phenotype,PHENOTYPE_6209
6210,6210,6210,6210,6210,6210,6210,6210,31351,Calcified amorphous tumor of the heart,HPO,phenotype,PHENOTYPE_6210
6211,6211,6211,6211,6211,6211,6211,6211,6739,Squamous cell carcinoma of the skin,HPO,phenotype,PHENOTYPE_6211
6212,6212,6212,6212,6212,6212,6212,6212,3963,Lytic defects of the forearm bones,HPO,phenotype,PHENOTYPE_6212
6213,6213,6213,6213,6213,6213,6213,6213,30478,Abnormal amplitude of dark-adapted bright flash electroretinogram,HPO,phenotype,PHENOTYPE_6213
6214,6214,6214,6214,6214,6214,6214,6214,6274,Reduced pancreatic beta cells,HPO,phenotype,PHENOTYPE_6214
6215,6215,6215,6215,6215,6215,6215,6215,410284,Positive norpropoxyphene blood test,HPO,phenotype,PHENOTYPE_6215
6216,6216,6216,6216,6216,6216,6216,6216,25687,Increased amyloid beta 40 peptide CSF concentration,HPO,phenotype,PHENOTYPE_6216
6217,6217,6217,6217,6217,6217,6217,6217,11232,Infra-orbital fold,HPO,phenotype,PHENOTYPE_6217
6218,6218,6218,6218,6218,6218,6218,6218,72,Hydroureter,HPO,phenotype,PHENOTYPE_6218
6219,6219,6219,6219,6219,6219,6219,6219,100743,Neoplasm of the rectum,HPO,phenotype,PHENOTYPE_6219
6220,6220,6220,6220,6220,6220,6220,6220,3000065,Abnormal lacrimal artery morphology,HPO,phenotype,PHENOTYPE_6220
6221,6221,6221,6221,6221,6221,6221,6221,4646,Hypoplasia of the nasal bone,HPO,phenotype,PHENOTYPE_6221
6222,6222,6222,6222,6222,6222,6222,6222,100930,Sclerosis of hallux phalanx,HPO,phenotype,PHENOTYPE_6222
6223,6223,6223,6223,6223,6223,6223,6223,155,Oral ulcer,HPO,phenotype,PHENOTYPE_6223
6224,6224,6224,6224,6224,6224,6224,6224,25664,Moderate to late preterm birth,HPO,phenotype,PHENOTYPE_6224
6225,6225,6225,6225,6225,6225,6225,6225,4429,Recurrent viral infections,HPO,phenotype,PHENOTYPE_6225
6226,6226,6226,6226,6226,6226,6226,6226,30151,Cholangitis,HPO,phenotype,PHENOTYPE_6226
6227,6227,6227,6227,6227,6227,6227,6227,10665,Bilateral coxa valga,HPO,phenotype,PHENOTYPE_6227
6228,6228,6228,6228,6228,6228,6228,6228,5384,Defective B cell activation,HPO,phenotype,PHENOTYPE_6228
6229,6229,6229,6229,6229,6229,6229,6229,12013,EEG with temporal focal spike waves,HPO,phenotype,PHENOTYPE_6229
6230,6230,6230,6230,6230,6230,6230,6230,34266,Vaginal bleeding during sex,HPO,phenotype,PHENOTYPE_6230
6231,6231,6231,6231,6231,6231,6231,6231,32679,Focal non-motor seizure,HPO,phenotype,PHENOTYPE_6231
6232,6232,6232,6232,6232,6232,6232,6232,6000608,"Elevated urinary 3,4-Dihydroxybutyric acid level",HPO,phenotype,PHENOTYPE_6232
6233,6233,6233,6233,6233,6233,6233,6233,20091,Post-vaccination rotavirus infection,HPO,phenotype,PHENOTYPE_6233
6234,6234,6234,6234,6234,6234,6234,6234,4002,Flattened radial epiphyses,HPO,phenotype,PHENOTYPE_6234
6235,6235,6235,6235,6235,6235,6235,6235,217,Xerostomia,HPO,phenotype,PHENOTYPE_6235
6236,6236,6236,6236,6236,6236,6236,6236,9901,Crumpled ear,HPO,phenotype,PHENOTYPE_6236
6237,6237,6237,6237,6237,6237,6237,6237,10098,Complete duplication of the 1st metatarsal,HPO,phenotype,PHENOTYPE_6237
6238,6238,6238,6238,6238,6238,6238,6238,6000375,Reduced neutrophil myeloperoxidase activity,HPO,phenotype,PHENOTYPE_6238
6239,6239,6239,6239,6239,6239,6239,6239,25466,Beta 2-microglobulinuria,HPO,phenotype,PHENOTYPE_6239
6240,6240,6240,6240,6240,6240,6240,6240,25458,Decreased CSF albumin concentration,HPO,phenotype,PHENOTYPE_6240
6241,6241,6241,6241,6241,6241,6241,6241,20073,Hypopigmented macule,HPO,phenotype,PHENOTYPE_6241
6242,6242,6242,6242,6242,6242,6242,6242,6000446,Abnormal circulating CC chemokine concentration,HPO,phenotype,PHENOTYPE_6242
6243,6243,6243,6243,6243,6243,6243,6243,7447,Diffuse palmoplantar hyperkeratosis,HPO,phenotype,PHENOTYPE_6243
6244,6244,6244,6244,6244,6244,6244,6244,31736,Involutional entropion,HPO,phenotype,PHENOTYPE_6244
6245,6245,6245,6245,6245,6245,6245,6245,34650,Elevated urine suberylglycine level,HPO,phenotype,PHENOTYPE_6245
6246,6246,6246,6246,6246,6246,6246,6246,12042,Aspirin-induced asthma,HPO,phenotype,PHENOTYPE_6246
6247,6247,6247,6247,6247,6247,6247,6247,10163,Bracket epiphyses of the toes,HPO,phenotype,PHENOTYPE_6247
6248,6248,6248,6248,6248,6248,6248,6248,31326,Monoclonal light chain cardiac amyloidosis,HPO,phenotype,PHENOTYPE_6248
6249,6249,6249,6249,6249,6249,6249,6249,35010,Occupational exposure history,HPO,phenotype,PHENOTYPE_6249
6250,6250,6250,6250,6250,6250,6250,6250,32284,Ultra-low vision with retained motion projection,HPO,phenotype,PHENOTYPE_6250
6251,6251,6251,6251,6251,6251,6251,6251,100799,Neoplasm of the middle ear,HPO,phenotype,PHENOTYPE_6251
6252,6252,6252,6252,6252,6252,6252,6252,3027,Mesomelia,HPO,phenotype,PHENOTYPE_6252
6253,6253,6253,6253,6253,6253,6253,6253,32800,Focal aware sensory seizure with vestibular features,HPO,phenotype,PHENOTYPE_6253
6254,6254,6254,6254,6254,6254,6254,6254,40404,Architectural distortion of breast,HPO,phenotype,PHENOTYPE_6254
6255,6255,6255,6255,6255,6255,6255,6255,3743,Genetic anticipation,HPO,phenotype,PHENOTYPE_6255
6256,6256,6256,6256,6256,6256,6256,6256,12294,Abnormal occipital bone morphology,HPO,phenotype,PHENOTYPE_6256
6257,6257,6257,6257,6257,6257,6257,6257,6000303,Decreased skin turgor,HPO,phenotype,PHENOTYPE_6257
6258,6258,6258,6258,6258,6258,6258,6258,11769,Ectopic parathyroid,HPO,phenotype,PHENOTYPE_6258
6259,6259,6259,6259,6259,6259,6259,6259,468,Increased adipose tissue around the neck,HPO,phenotype,PHENOTYPE_6259
6260,6260,6260,6260,6260,6260,6260,6260,4000191,Increased circulating alpha-mannosidase activity,HPO,phenotype,PHENOTYPE_6260
6261,6261,6261,6261,6261,6261,6261,6261,34123,Anti-GQ1b IgM antibody positivity,HPO,phenotype,PHENOTYPE_6261
6262,6262,6262,6262,6262,6262,6262,6262,100529,Abnormal blood phosphate concentration,HPO,phenotype,PHENOTYPE_6262
6263,6263,6263,6263,6263,6263,6263,6263,33171,Abnormal triceps skinfold thickness,HPO,phenotype,PHENOTYPE_6263
6264,6264,6264,6264,6264,6264,6264,6264,6000255,Demonstration of Leishmania in tissue,HPO,phenotype,PHENOTYPE_6264
6265,6265,6265,6265,6265,6265,6265,6265,12623,Stage 1 chronic kidney disease,HPO,phenotype,PHENOTYPE_6265
6266,6266,6266,6266,6266,6266,6266,6266,6000554,Positive bloodstream plasmodium falciparum nucleic acid pathogen test,HPO,phenotype,PHENOTYPE_6266
6267,6267,6267,6267,6267,6267,6267,6267,9813,Upper limb phocomelia,HPO,phenotype,PHENOTYPE_6267
6268,6268,6268,6268,6268,6268,6268,6268,33670,Organizing pneumonia,HPO,phenotype,PHENOTYPE_6268
6269,6269,6269,6269,6269,6269,6269,6269,11732,Abnormal adrenal morphology,HPO,phenotype,PHENOTYPE_6269
6270,6270,6270,6270,6270,6270,6270,6270,4000190,Reduced leukocyte alpha-mannosidase activity,HPO,phenotype,PHENOTYPE_6270
6271,6271,6271,6271,6271,6271,6271,6271,8124,Talipes calcaneovarus,HPO,phenotype,PHENOTYPE_6271
6272,6272,6272,6272,6272,6272,6272,6272,30174,Increased peripheral myelin thickness,HPO,phenotype,PHENOTYPE_6272
6273,6273,6273,6273,6273,6273,6273,6273,10750,Dermatochalasis,HPO,phenotype,PHENOTYPE_6273
6274,6274,6274,6274,6274,6274,6274,6274,8141,Dislocation of toes,HPO,phenotype,PHENOTYPE_6274
6275,6275,6275,6275,6275,6275,6275,6275,5000017,Anti-Iglon5 antibody,HPO,phenotype,PHENOTYPE_6275
6276,6276,6276,6276,6276,6276,6276,6276,500154,Hypoalaninemia,HPO,phenotype,PHENOTYPE_6276
6277,6277,6277,6277,6277,6277,6277,6277,25029,Abnormal enteric neuron morphology,HPO,phenotype,PHENOTYPE_6277
6278,6278,6278,6278,6278,6278,6278,6278,33726,Lupus nephritis,HPO,phenotype,PHENOTYPE_6278
6279,6279,6279,6279,6279,6279,6279,6279,31396,Abnormal proportion of naive T cells,HPO,phenotype,PHENOTYPE_6279
6280,6280,6280,6280,6280,6280,6280,6280,25157,Increased urinary sedoheptulose,HPO,phenotype,PHENOTYPE_6280
6281,6281,6281,6281,6281,6281,6281,6281,30625,Hyporeflective spaces on macular OCT,HPO,phenotype,PHENOTYPE_6281
6282,6282,6282,6282,6282,6282,6282,6282,9533,Stippling of the epiphysis of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_6282
6283,6283,6283,6283,6283,6283,6283,6283,7455,Adermatoglyphia,HPO,phenotype,PHENOTYPE_6283
6284,6284,6284,6284,6284,6284,6284,6284,11445,Athetoid cerebral palsy,HPO,phenotype,PHENOTYPE_6284
6285,6285,6285,6285,6285,6285,6285,6285,9898,Underdeveloped crus of the helix,HPO,phenotype,PHENOTYPE_6285
6286,6286,6286,6286,6286,6286,6286,6286,12633,Asymmetry of intraocular pressure,HPO,phenotype,PHENOTYPE_6286
6287,6287,6287,6287,6287,6287,6287,6287,33849,Bilingual aphasia,HPO,phenotype,PHENOTYPE_6287
6288,6288,6288,6288,6288,6288,6288,6288,1645,Sudden cardiac death,HPO,phenotype,PHENOTYPE_6288
6289,6289,6289,6289,6289,6289,6289,6289,32513,Four-vessel umbilical cord,HPO,phenotype,PHENOTYPE_6289
6290,6290,6290,6290,6290,6290,6290,6290,1541,Ascites,HPO,phenotype,PHENOTYPE_6290
6291,6291,6291,6291,6291,6291,6291,6291,2174,Postural tremor,HPO,phenotype,PHENOTYPE_6291
6292,6292,6292,6292,6292,6292,6292,6292,8846,Severe intrauterine growth retardation,HPO,phenotype,PHENOTYPE_6292
6293,6293,6293,6293,6293,6293,6293,6293,9571,Curved middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_6293
6294,6294,6294,6294,6294,6294,6294,6294,11126,Nephroptosis,HPO,phenotype,PHENOTYPE_6294
6295,6295,6295,6295,6295,6295,6295,6295,4836,Acute promyelocytic leukemia,HPO,phenotype,PHENOTYPE_6295
6296,6296,6296,6296,6296,6296,6296,6296,9402,Stippling of the epiphyses of the 4th finger,HPO,phenotype,PHENOTYPE_6296
6297,6297,6297,6297,6297,6297,6297,6297,100130,Small epiphysis of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_6297
6298,6298,6298,6298,6298,6298,6298,6298,4810,Congenital hypoplastic anemia,HPO,phenotype,PHENOTYPE_6298
6299,6299,6299,6299,6299,6299,6299,6299,4423,Cranium bifidum occultum,HPO,phenotype,PHENOTYPE_6299
6300,6300,6300,6300,6300,6300,6300,6300,410399,Positive blood lead test,HPO,phenotype,PHENOTYPE_6300
6301,6301,6301,6301,6301,6301,6301,6301,25552,Periorbital purpura,HPO,phenotype,PHENOTYPE_6301
6302,6302,6302,6302,6302,6302,6302,6302,30926,5-minute APGAR score of 6,HPO,phenotype,PHENOTYPE_6302
6303,6303,6303,6303,6303,6303,6303,6303,7984,Electronegative electroretinogram,HPO,phenotype,PHENOTYPE_6303
6304,6304,6304,6304,6304,6304,6304,6304,11321,Left unilambdoid synostosis,HPO,phenotype,PHENOTYPE_6304
6305,6305,6305,6305,6305,6305,6305,6305,653,Sparse eyelashes,HPO,phenotype,PHENOTYPE_6305
6306,6306,6306,6306,6306,6306,6306,6306,12887,Ovarian serous cystadenoma,HPO,phenotype,PHENOTYPE_6306
6307,6307,6307,6307,6307,6307,6307,6307,33018,Chronic absent circulating IgD,HPO,phenotype,PHENOTYPE_6307
6308,6308,6308,6308,6308,6308,6308,6308,2103,Abnormal pleura morphology,HPO,phenotype,PHENOTYPE_6308
6309,6309,6309,6309,6309,6309,6309,6309,3492,High urinary gonadotropin level,HPO,phenotype,PHENOTYPE_6309
6310,6310,6310,6310,6310,6310,6310,6310,32657,Elevated circulating lyso-globotriaosylsphingosine concentration,HPO,phenotype,PHENOTYPE_6310
6311,6311,6311,6311,6311,6311,6311,6311,410000,Abnormal vomer morphology,HPO,phenotype,PHENOTYPE_6311
6312,6312,6312,6312,6312,6312,6312,6312,11069,Supernumerary tooth,HPO,phenotype,PHENOTYPE_6312
6313,6313,6313,6313,6313,6313,6313,6313,10474,Bladder stones,HPO,phenotype,PHENOTYPE_6313
6314,6314,6314,6314,6314,6314,6314,6314,34985,Reduced cellular cobalamin uptake,HPO,phenotype,PHENOTYPE_6314
6315,6315,6315,6315,6315,6315,6315,6315,3547,Shoulder girdle muscle weakness,HPO,phenotype,PHENOTYPE_6315
6316,6316,6316,6316,6316,6316,6316,6316,11098,Speech apraxia,HPO,phenotype,PHENOTYPE_6316
6317,6317,6317,6317,6317,6317,6317,6317,3233,Decreased HDL cholesterol concentration,HPO,phenotype,PHENOTYPE_6317
6318,6318,6318,6318,6318,6318,6318,6318,11524,Iris melanoma,HPO,phenotype,PHENOTYPE_6318
6319,6319,6319,6319,6319,6319,6319,6319,31989,Perioral spasm,HPO,phenotype,PHENOTYPE_6319
6320,6320,6320,6320,6320,6320,6320,6320,31253,Anomalous origin of left subclavian artery,HPO,phenotype,PHENOTYPE_6320
6321,6321,6321,6321,6321,6321,6321,6321,3472,Hypocalcemic tetany,HPO,phenotype,PHENOTYPE_6321
6322,6322,6322,6322,6322,6322,6322,6322,32950,Abnormal renal tubular lumen morphology,HPO,phenotype,PHENOTYPE_6322
6323,6323,6323,6323,6323,6323,6323,6323,25153,Transient,HPO,phenotype,PHENOTYPE_6323
6324,6324,6324,6324,6324,6324,6324,6324,10546,Muscle fibrillation,HPO,phenotype,PHENOTYPE_6324
6325,6325,6325,6325,6325,6325,6325,6325,33514,Addictive amphetamine use,HPO,phenotype,PHENOTYPE_6325
6326,6326,6326,6326,6326,6326,6326,6326,6517,Intraalveolar phospholipid accumulation,HPO,phenotype,PHENOTYPE_6326
6327,6327,6327,6327,6327,6327,6327,6327,3413,Atlantoaxial abnormality,HPO,phenotype,PHENOTYPE_6327
6328,6328,6328,6328,6328,6328,6328,6328,7343,Abnormal morphology of the limbic system,HPO,phenotype,PHENOTYPE_6328
6329,6329,6329,6329,6329,6329,6329,6329,40045,Abnormal hemidiaphragm morphology,HPO,phenotype,PHENOTYPE_6329
6330,6330,6330,6330,6330,6330,6330,6330,33490,Glomerular endocapillary foam-cell hypercellularity,HPO,phenotype,PHENOTYPE_6330
6331,6331,6331,6331,6331,6331,6331,6331,3929,Ground glass opacity of humeral diaphysis,HPO,phenotype,PHENOTYPE_6331
6332,6332,6332,6332,6332,6332,6332,6332,100125,Enlarged epiphysis of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_6332
6333,6333,6333,6333,6333,6333,6333,6333,31779,Excyclophoria,HPO,phenotype,PHENOTYPE_6333
6334,6334,6334,6334,6334,6334,6334,6334,10236,Small epiphyses of the phalanges of the hand,HPO,phenotype,PHENOTYPE_6334
6335,6335,6335,6335,6335,6335,6335,6335,34407,Reduced circulating 3-ketoacyl-CoA thiolase concentration,HPO,phenotype,PHENOTYPE_6335
6336,6336,6336,6336,6336,6336,6336,6336,33360,Impaired ability to shift attention,HPO,phenotype,PHENOTYPE_6336
6337,6337,6337,6337,6337,6337,6337,6337,5959,Impaired gluconeogenesis,HPO,phenotype,PHENOTYPE_6337
6338,6338,6338,6338,6338,6338,6338,6338,6001134,Coronoid fracture,HPO,phenotype,PHENOTYPE_6338
6339,6339,6339,6339,6339,6339,6339,6339,32674,Cutaneous wound,HPO,phenotype,PHENOTYPE_6339
6340,6340,6340,6340,6340,6340,6340,6340,34655,Elevated urine glutaconic acid level,HPO,phenotype,PHENOTYPE_6340
6341,6341,6341,6341,6341,6341,6341,6341,31319,Cardiomyocyte hypertrophy,HPO,phenotype,PHENOTYPE_6341
6342,6342,6342,6342,6342,6342,6342,6342,100227,Enlarged epiphysis of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_6342
6343,6343,6343,6343,6343,6343,6343,6343,30392,Choroid plexus carcinoma,HPO,phenotype,PHENOTYPE_6343
6344,6344,6344,6344,6344,6344,6344,6344,1786,Narrow foot,HPO,phenotype,PHENOTYPE_6344
6345,6345,6345,6345,6345,6345,6345,6345,31127,Impaired convulxin-induced platelet aggregation,HPO,phenotype,PHENOTYPE_6345
6346,6346,6346,6346,6346,6346,6346,6346,6040,Long second metacarpal,HPO,phenotype,PHENOTYPE_6346
6347,6347,6347,6347,6347,6347,6347,6347,7873,Abnormally prominent line of Schwalbe,HPO,phenotype,PHENOTYPE_6347
6348,6348,6348,6348,6348,6348,6348,6348,33746,Intrascapular pain,HPO,phenotype,PHENOTYPE_6348
6349,6349,6349,6349,6349,6349,6349,6349,32143,Burning mouth,HPO,phenotype,PHENOTYPE_6349
6350,6350,6350,6350,6350,6350,6350,6350,12562,Premature epimetaphyseal fusion in hand,HPO,phenotype,PHENOTYPE_6350
6351,6351,6351,6351,6351,6351,6351,6351,30331,Impaired stimulus-induced skin wrinkling,HPO,phenotype,PHENOTYPE_6351
6352,6352,6352,6352,6352,6352,6352,6352,10281,Cleft lower lip,HPO,phenotype,PHENOTYPE_6352
6353,6353,6353,6353,6353,6353,6353,6353,307,Pointed chin,HPO,phenotype,PHENOTYPE_6353
6354,6354,6354,6354,6354,6354,6354,6354,9792,Teratoma,HPO,phenotype,PHENOTYPE_6354
6355,6355,6355,6355,6355,6355,6355,6355,11960,Substantia nigra gliosis,HPO,phenotype,PHENOTYPE_6355
6356,6356,6356,6356,6356,6356,6356,6356,5001,Recurrent patellar dislocation,HPO,phenotype,PHENOTYPE_6356
6357,6357,6357,6357,6357,6357,6357,6357,33508,EBV meningitis,HPO,phenotype,PHENOTYPE_6357
6358,6358,6358,6358,6358,6358,6358,6358,34463,Hydroxylysinemia,HPO,phenotype,PHENOTYPE_6358
6359,6359,6359,6359,6359,6359,6359,6359,40299,Decreased circulating free fatty acid level,HPO,phenotype,PHENOTYPE_6359
6360,6360,6360,6360,6360,6360,6360,6360,25725,Type 1 congenital pulmonary airway malformation,HPO,phenotype,PHENOTYPE_6360
6361,6361,6361,6361,6361,6361,6361,6361,4000204,Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_6361
6362,6362,6362,6362,6362,6362,6362,6362,31880,Eyelid laxity,HPO,phenotype,PHENOTYPE_6362
6363,6363,6363,6363,6363,6363,6363,6363,20153,"Positive blood 1,3 beta glucan test",HPO,phenotype,PHENOTYPE_6363
6364,6364,6364,6364,6364,6364,6364,6364,30181,Gordon reflex,HPO,phenotype,PHENOTYPE_6364
6365,6365,6365,6365,6365,6365,6365,6365,33230,Biceps areflexia,HPO,phenotype,PHENOTYPE_6365
6366,6366,6366,6366,6366,6366,6366,6366,10362,Curved 3rd toe phalanx,HPO,phenotype,PHENOTYPE_6366
6367,6367,6367,6367,6367,6367,6367,6367,32463,Reduced circulating fibronectin level,HPO,phenotype,PHENOTYPE_6367
6368,6368,6368,6368,6368,6368,6368,6368,1761,Pes cavus,HPO,phenotype,PHENOTYPE_6368
6369,6369,6369,6369,6369,6369,6369,6369,11832,Narrow nasal tip,HPO,phenotype,PHENOTYPE_6369
6370,6370,6370,6370,6370,6370,6370,6370,677,Oligodontia,HPO,phenotype,PHENOTYPE_6370
6371,6371,6371,6371,6371,6371,6371,6371,32268,Dural tail sign,HPO,phenotype,PHENOTYPE_6371
6372,6372,6372,6372,6372,6372,6372,6372,6001007,Elevated urinary bile alcohol level,HPO,phenotype,PHENOTYPE_6372
6373,6373,6373,6373,6373,6373,6373,6373,10541,Cutis gyrata of scalp,HPO,phenotype,PHENOTYPE_6373
6374,6374,6374,6374,6374,6374,6374,6374,12277,Hypoglycinemia,HPO,phenotype,PHENOTYPE_6374
6375,6375,6375,6375,6375,6375,6375,6375,457,Depressed nasal ridge,HPO,phenotype,PHENOTYPE_6375
6376,6376,6376,6376,6376,6376,6376,6376,25337,Red eye,HPO,phenotype,PHENOTYPE_6376
6377,6377,6377,6377,6377,6377,6377,6377,10159,Triangular epiphysis of the 1st metatarsal,HPO,phenotype,PHENOTYPE_6377
6378,6378,6378,6378,6378,6378,6378,6378,32660,Convulsive status epilepticus,HPO,phenotype,PHENOTYPE_6378
6379,6379,6379,6379,6379,6379,6379,6379,11794,Embryonal renal neoplasm,HPO,phenotype,PHENOTYPE_6379
6380,6380,6380,6380,6380,6380,6380,6380,6600,Progressive calcification of costochondral cartilage,HPO,phenotype,PHENOTYPE_6380
6381,6381,6381,6381,6381,6381,6381,6381,2070,Limb ataxia,HPO,phenotype,PHENOTYPE_6381
6382,6382,6382,6382,6382,6382,6382,6382,10499,Patellar subluxation,HPO,phenotype,PHENOTYPE_6382
6383,6383,6383,6383,6383,6383,6383,6383,33652,Broncholith,HPO,phenotype,PHENOTYPE_6383
6384,6384,6384,6384,6384,6384,6384,6384,6000691,Left atrial fibrosis,HPO,phenotype,PHENOTYPE_6384
6385,6385,6385,6385,6385,6385,6385,6385,7462,Bitot spots of the conjunctiva,HPO,phenotype,PHENOTYPE_6385
6386,6386,6386,6386,6386,6386,6386,6386,34060,Triggered by fava bean ingestion,HPO,phenotype,PHENOTYPE_6386
6387,6387,6387,6387,6387,6387,6387,6387,9943,Complete duplication of thumb phalanx,HPO,phenotype,PHENOTYPE_6387
6388,6388,6388,6388,6388,6388,6388,6388,12389,Appendicular hypotonia,HPO,phenotype,PHENOTYPE_6388
6389,6389,6389,6389,6389,6389,6389,6389,100012,Neoplasm of the eye,HPO,phenotype,PHENOTYPE_6389
6390,6390,6390,6390,6390,6390,6390,6390,25048,Reduced brain choline level by MRS,HPO,phenotype,PHENOTYPE_6390
6391,6391,6391,6391,6391,6391,6391,6391,9333,Abnormality of the epiphysis of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_6391
6392,6392,6392,6392,6392,6392,6392,6392,30511,Bradyopsia,HPO,phenotype,PHENOTYPE_6392
6393,6393,6393,6393,6393,6393,6393,6393,410316,Abnormal urinary 3-methylhistidine level,HPO,phenotype,PHENOTYPE_6393
6394,6394,6394,6394,6394,6394,6394,6394,10895,Abnormal circulating glycine concentration,HPO,phenotype,PHENOTYPE_6394
6395,6395,6395,6395,6395,6395,6395,6395,6763,Anal canal squamous carcinoma,HPO,phenotype,PHENOTYPE_6395
6396,6396,6396,6396,6396,6396,6396,6396,4418,Thrombophlebitis,HPO,phenotype,PHENOTYPE_6396
6397,6397,6397,6397,6397,6397,6397,6397,5619,Thoracolumbar kyphosis,HPO,phenotype,PHENOTYPE_6397
6398,6398,6398,6398,6398,6398,6398,6398,25464,Increased reactive oxygen species production,HPO,phenotype,PHENOTYPE_6398
6399,6399,6399,6399,6399,6399,6399,6399,5733,Spinal stenosis with reduced interpedicular distance,HPO,phenotype,PHENOTYPE_6399
6400,6400,6400,6400,6400,6400,6400,6400,9005,Weakness of the intrinsic hand muscles,HPO,phenotype,PHENOTYPE_6400
6401,6401,6401,6401,6401,6401,6401,6401,32089,Aortic medial fibrosis,HPO,phenotype,PHENOTYPE_6401
6402,6402,6402,6402,6402,6402,6402,6402,1956,Truncal obesity,HPO,phenotype,PHENOTYPE_6402
6403,6403,6403,6403,6403,6403,6403,6403,32034,Upper eyelid laxity,HPO,phenotype,PHENOTYPE_6403
6404,6404,6404,6404,6404,6404,6404,6404,6899,Fusion of the cerebellar hemispheres,HPO,phenotype,PHENOTYPE_6404
6405,6405,6405,6405,6405,6405,6405,6405,25636,Endometritis,HPO,phenotype,PHENOTYPE_6405
6406,6406,6406,6406,6406,6406,6406,6406,11120,Concave nasal ridge,HPO,phenotype,PHENOTYPE_6406
6407,6407,6407,6407,6407,6407,6407,6407,9153,Abnormality of the epiphysis of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_6407
6408,6408,6408,6408,6408,6408,6408,6408,12429,Aplasia/Hypoplasia of the cerebral white matter,HPO,phenotype,PHENOTYPE_6408
6409,6409,6409,6409,6409,6409,6409,6409,6349,Agenesis of permanent teeth,HPO,phenotype,PHENOTYPE_6409
6410,6410,6410,6410,6410,6410,6410,6410,6000468,Elevated CSF alpha-ketoglutarate concentration,HPO,phenotype,PHENOTYPE_6410
6411,6411,6411,6411,6411,6411,6411,6411,11320,Unilambdoid synostosis,HPO,phenotype,PHENOTYPE_6411
6412,6412,6412,6412,6412,6412,6412,6412,6000282,Elevated circulating aspartylglucosamine concentration,HPO,phenotype,PHENOTYPE_6412
6413,6413,6413,6413,6413,6413,6413,6413,6577,Macronodular cirrhosis,HPO,phenotype,PHENOTYPE_6413
6414,6414,6414,6414,6414,6414,6414,6414,8074,Metatarsal periosteal thickening,HPO,phenotype,PHENOTYPE_6414
6415,6415,6415,6415,6415,6415,6415,6415,5723,Shoe-shaped sella turcica,HPO,phenotype,PHENOTYPE_6415
6416,6416,6416,6416,6416,6416,6416,6416,25787,Paraphilia,HPO,phenotype,PHENOTYPE_6416
6417,6417,6417,6417,6417,6417,6417,6417,100724,Hypercoagulability,HPO,phenotype,PHENOTYPE_6417
6418,6418,6418,6418,6418,6418,6418,6418,2068,Neuromuscular dysphagia,HPO,phenotype,PHENOTYPE_6418
6419,6419,6419,6419,6419,6419,6419,6419,6962,"Gait instability, worse in the dark",HPO,phenotype,PHENOTYPE_6419
6420,6420,6420,6420,6420,6420,6420,6420,31525,Keratoacanthoma,HPO,phenotype,PHENOTYPE_6420
6421,6421,6421,6421,6421,6421,6421,6421,9959,Duplication of phalanx of 3rd finger,HPO,phenotype,PHENOTYPE_6421
6422,6422,6422,6422,6422,6422,6422,6422,9636,Triangular shaped proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_6422
6423,6423,6423,6423,6423,6423,6423,6423,31374,Ankle weakness,HPO,phenotype,PHENOTYPE_6423
6424,6424,6424,6424,6424,6424,6424,6424,32718,Focal motor seizure with dystonia,HPO,phenotype,PHENOTYPE_6424
6425,6425,6425,6425,6425,6425,6425,6425,31664,Systolic heart murmur,HPO,phenotype,PHENOTYPE_6425
6426,6426,6426,6426,6426,6426,6426,6426,10435,Short middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_6426
6427,6427,6427,6427,6427,6427,6427,6427,32830,Neonatal seizure with bilateral asymmetric automatism,HPO,phenotype,PHENOTYPE_6427
6428,6428,6428,6428,6428,6428,6428,6428,30040,Fused lumbar vertebrae,HPO,phenotype,PHENOTYPE_6428
6429,6429,6429,6429,6429,6429,6429,6429,3348,Hyperalaninemia,HPO,phenotype,PHENOTYPE_6429
6430,6430,6430,6430,6430,6430,6430,6430,41162,Metatarsal fracture,HPO,phenotype,PHENOTYPE_6430
6431,6431,6431,6431,6431,6431,6431,6431,33669,Enlarged amygdala,HPO,phenotype,PHENOTYPE_6431
6432,6432,6432,6432,6432,6432,6432,6432,31132,Impaired annexin V binding to platelet phosphatidylserine,HPO,phenotype,PHENOTYPE_6432
6433,6433,6433,6433,6433,6433,6433,6433,764,Peripheral axonal degeneration,HPO,phenotype,PHENOTYPE_6433
6434,6434,6434,6434,6434,6434,6434,6434,2562,Low-set nipples,HPO,phenotype,PHENOTYPE_6434
6435,6435,6435,6435,6435,6435,6435,6435,8608,Hypertrophic auricular cartilage,HPO,phenotype,PHENOTYPE_6435
6436,6436,6436,6436,6436,6436,6436,6436,4621,Enlarged vertebral pedicles,HPO,phenotype,PHENOTYPE_6436
6437,6437,6437,6437,6437,6437,6437,6437,100917,Sclerosis of proximal finger phalanx,HPO,phenotype,PHENOTYPE_6437
6438,6438,6438,6438,6438,6438,6438,6438,6783,Posterior pharyngeal cleft,HPO,phenotype,PHENOTYPE_6438
6439,6439,6439,6439,6439,6439,6439,6439,34224,Absent end-diastolic umbilical artery flow,HPO,phenotype,PHENOTYPE_6439
6440,6440,6440,6440,6440,6440,6440,6440,2269,Abnormality of neuronal migration,HPO,phenotype,PHENOTYPE_6440
6441,6441,6441,6441,6441,6441,6441,6441,30156,Bence Jones Proteinuria,HPO,phenotype,PHENOTYPE_6441
6442,6442,6442,6442,6442,6442,6442,6442,30932,1-minute APGAR score of 5,HPO,phenotype,PHENOTYPE_6442
6443,6443,6443,6443,6443,6443,6443,6443,6000668,Glomerular immune-complex deposition,HPO,phenotype,PHENOTYPE_6443
6444,6444,6444,6444,6444,6444,6444,6444,200056,Macular scar,HPO,phenotype,PHENOTYPE_6444
6445,6445,6445,6445,6445,6445,6445,6445,100197,Ivory epiphysis of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_6445
6446,6446,6446,6446,6446,6446,6446,6446,1489,Posterior vitreous detachment,HPO,phenotype,PHENOTYPE_6446
6447,6447,6447,6447,6447,6447,6447,6447,2710,Commissural lip pit,HPO,phenotype,PHENOTYPE_6447
6448,6448,6448,6448,6448,6448,6448,6448,5528,Bone marrow hypocellularity,HPO,phenotype,PHENOTYPE_6448
6449,6449,6449,6449,6449,6449,6449,6449,5212,Anal mucosal leukoplakia,HPO,phenotype,PHENOTYPE_6449
6450,6450,6450,6450,6450,6450,6450,6450,40296,Abnormal location of the eyebrow,HPO,phenotype,PHENOTYPE_6450
6451,6451,6451,6451,6451,6451,6451,6451,1009,Telangiectasia,HPO,phenotype,PHENOTYPE_6451
6452,6452,6452,6452,6452,6452,6452,6452,100343,Tibial deviation of the 3rd toe,HPO,phenotype,PHENOTYPE_6452
6453,6453,6453,6453,6453,6453,6453,6453,9382,Absent epiphyses of the 5th finger,HPO,phenotype,PHENOTYPE_6453
6454,6454,6454,6454,6454,6454,6454,6454,33326,Elevated circulating hydroxyphenlyllactic acid concentration,HPO,phenotype,PHENOTYPE_6454
6455,6455,6455,6455,6455,6455,6455,6455,33615,Displaced tracheal bronchus,HPO,phenotype,PHENOTYPE_6455
6456,6456,6456,6456,6456,6456,6456,6456,9251,Bracket epiphysis of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_6456
6457,6457,6457,6457,6457,6457,6457,6457,20161,Branch retinal artery occlusion,HPO,phenotype,PHENOTYPE_6457
6458,6458,6458,6458,6458,6458,6458,6458,5200402,Overvalued idea,HPO,phenotype,PHENOTYPE_6458
6459,6459,6459,6459,6459,6459,6459,6459,10352,Patchy sclerosis of 2nd toe phalanx,HPO,phenotype,PHENOTYPE_6459
6460,6460,6460,6460,6460,6460,6460,6460,34874,Decreased circulating norepinephrine concentration,HPO,phenotype,PHENOTYPE_6460
6461,6461,6461,6461,6461,6461,6461,6461,6000297,History of facial cosmetic use,HPO,phenotype,PHENOTYPE_6461
6462,6462,6462,6462,6462,6462,6462,6462,34144,Anti-hY-RNA complex antibody positivity,HPO,phenotype,PHENOTYPE_6462
6463,6463,6463,6463,6463,6463,6463,6463,34878,Decreased circulating metanephrine concentration,HPO,phenotype,PHENOTYPE_6463
6464,6464,6464,6464,6464,6464,6464,6464,31242,Decreased circulating chylomicron concentration,HPO,phenotype,PHENOTYPE_6464
6465,6465,6465,6465,6465,6465,6465,6465,10947,Abnormality of ductus venosus blood flow,HPO,phenotype,PHENOTYPE_6465
6466,6466,6466,6466,6466,6466,6466,6466,6000628,Scalloped appearance of liver surface,HPO,phenotype,PHENOTYPE_6466
6467,6467,6467,6467,6467,6467,6467,6467,12795,Abnormal optic disc morphology,HPO,phenotype,PHENOTYPE_6467
6468,6468,6468,6468,6468,6468,6468,6468,40161,Localized osteoporosis,HPO,phenotype,PHENOTYPE_6468
6469,6469,6469,6469,6469,6469,6469,6469,40319,Dark urine,HPO,phenotype,PHENOTYPE_6469
6470,6470,6470,6470,6470,6470,6470,6470,500047,Nasolacrimal sac lymphoma,HPO,phenotype,PHENOTYPE_6470
6471,6471,6471,6471,6471,6471,6471,6471,6001131,Radial head fracture,HPO,phenotype,PHENOTYPE_6471
6472,6472,6472,6472,6472,6472,6472,6472,45075,Sparse eyebrow,HPO,phenotype,PHENOTYPE_6472
6473,6473,6473,6473,6473,6473,6473,6473,6001171,Superior displacement of the humeral head,HPO,phenotype,PHENOTYPE_6473
6474,6474,6474,6474,6474,6474,6474,6474,9376,Aplasia/Hypoplasia of the phalanges of the 5th finger,HPO,phenotype,PHENOTYPE_6474
6475,6475,6475,6475,6475,6475,6475,6475,410198,Decreased erythrocyte UDP glucose-4-epimerase concentration,HPO,phenotype,PHENOTYPE_6475
6476,6476,6476,6476,6476,6476,6476,6476,2246,Abnormal duodenum morphology,HPO,phenotype,PHENOTYPE_6476
6477,6477,6477,6477,6477,6477,6477,6477,2185,Neurofibrillary tangles,HPO,phenotype,PHENOTYPE_6477
6478,6478,6478,6478,6478,6478,6478,6478,8358,Hyperprolinemia,HPO,phenotype,PHENOTYPE_6478
6479,6479,6479,6479,6479,6479,6479,6479,31865,Abnormal liver physiology,HPO,phenotype,PHENOTYPE_6479
6480,6480,6480,6480,6480,6480,6480,6480,25587,Hyperdeviation,HPO,phenotype,PHENOTYPE_6480
6481,6481,6481,6481,6481,6481,6481,6481,939,Osteoporosis,HPO,phenotype,PHENOTYPE_6481
6482,6482,6482,6482,6482,6482,6482,6482,40156,Elevated urinary carboxylic acid,HPO,phenotype,PHENOTYPE_6482
6483,6483,6483,6483,6483,6483,6483,6483,6000851,Basilar meningeal enhancement,HPO,phenotype,PHENOTYPE_6483
6484,6484,6484,6484,6484,6484,6484,6484,32975,Abnormal bronchoalveolar fluid protein level,HPO,phenotype,PHENOTYPE_6484
6485,6485,6485,6485,6485,6485,6485,6485,5059,Arthralgia/arthritis,HPO,phenotype,PHENOTYPE_6485
6486,6486,6486,6486,6486,6486,6486,6486,100862,Aplasia of the femoral head,HPO,phenotype,PHENOTYPE_6486
6487,6487,6487,6487,6487,6487,6487,6487,12498,Nuchal cord,HPO,phenotype,PHENOTYPE_6487
6488,6488,6488,6488,6488,6488,6488,6488,34358,Impaired renal tubular reabsorption of sodium,HPO,phenotype,PHENOTYPE_6488
6489,6489,6489,6489,6489,6489,6489,6489,2311,Incoordination,HPO,phenotype,PHENOTYPE_6489
6490,6490,6490,6490,6490,6490,6490,6490,4000045,Spiral fracture,HPO,phenotype,PHENOTYPE_6490
6491,6491,6491,6491,6491,6491,6491,6491,34588,Crypt hyperplasia,HPO,phenotype,PHENOTYPE_6491
6492,6492,6492,6492,6492,6492,6492,6492,34802,Exacerbated by flexion,HPO,phenotype,PHENOTYPE_6492
6493,6493,6493,6493,6493,6493,6493,6493,10497,Sirenomelia,HPO,phenotype,PHENOTYPE_6493
6494,6494,6494,6494,6494,6494,6494,6494,100017,Capsular cataract,HPO,phenotype,PHENOTYPE_6494
6495,6495,6495,6495,6495,6495,6495,6495,12219,Erythema nodosum,HPO,phenotype,PHENOTYPE_6495
6496,6496,6496,6496,6496,6496,6496,6496,9241,Bullet-shaped distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_6496
6497,6497,6497,6497,6497,6497,6497,6497,32552,Abnormal pulse,HPO,phenotype,PHENOTYPE_6497
6498,6498,6498,6498,6498,6498,6498,6498,2821,Neuropathic arthropathy,HPO,phenotype,PHENOTYPE_6498
6499,6499,6499,6499,6499,6499,6499,6499,32739,Focal emotional seizure with fear/anxiety/panic,HPO,phenotype,PHENOTYPE_6499
6500,6500,6500,6500,6500,6500,6500,6500,12625,Stage 3 chronic kidney disease,HPO,phenotype,PHENOTYPE_6500
6501,6501,6501,6501,6501,6501,6501,6501,6000443,Elevated blood mercury concentration,HPO,phenotype,PHENOTYPE_6501
6502,6502,6502,6502,6502,6502,6502,6502,200159,Agenesis of primary mandibular lateral incisor,HPO,phenotype,PHENOTYPE_6502
6503,6503,6503,6503,6503,6503,6503,6503,31143,Decreased hepatic echogenicity,HPO,phenotype,PHENOTYPE_6503
6504,6504,6504,6504,6504,6504,6504,6504,33819,Perilymphatic,HPO,phenotype,PHENOTYPE_6504
6505,6505,6505,6505,6505,6505,6505,6505,34423,triggered by allergens,HPO,phenotype,PHENOTYPE_6505
6506,6506,6506,6506,6506,6506,6506,6506,34148,Anti-isoleucyl tRNA-synthetase antibody positivity,HPO,phenotype,PHENOTYPE_6506
6507,6507,6507,6507,6507,6507,6507,6507,5200405,Olfactory agnosia,HPO,phenotype,PHENOTYPE_6507
6508,6508,6508,6508,6508,6508,6508,6508,33671,Pulmonary oligemia,HPO,phenotype,PHENOTYPE_6508
6509,6509,6509,6509,6509,6509,6509,6509,11084,Hypocalcification of dental enamel,HPO,phenotype,PHENOTYPE_6509
6510,6510,6510,6510,6510,6510,6510,6510,100957,Abnormal renal medulla morphology,HPO,phenotype,PHENOTYPE_6510
6511,6511,6511,6511,6511,6511,6511,6511,884,Prominent sternum,HPO,phenotype,PHENOTYPE_6511
6512,6512,6512,6512,6512,6512,6512,6512,40106,Abnormal lateral semicircular canal morphology,HPO,phenotype,PHENOTYPE_6512
6513,6513,6513,6513,6513,6513,6513,6513,12628,Abnormal suspensory ligament of lens morphology,HPO,phenotype,PHENOTYPE_6513
6514,6514,6514,6514,6514,6514,6514,6514,11079,Impacted tooth,HPO,phenotype,PHENOTYPE_6514
6515,6515,6515,6515,6515,6515,6515,6515,6476,Abnormality of the pancreatic islet cells,HPO,phenotype,PHENOTYPE_6515
6516,6516,6516,6516,6516,6516,6516,6516,4040,Corner fragments of ulnar metaphysis,HPO,phenotype,PHENOTYPE_6516
6517,6517,6517,6517,6517,6517,6517,6517,12383,Bidirectional shunt,HPO,phenotype,PHENOTYPE_6517
6518,6518,6518,6518,6518,6518,6518,6518,30968,Abnormal pulmonary vein morphology,HPO,phenotype,PHENOTYPE_6518
6519,6519,6519,6519,6519,6519,6519,6519,100397,Short proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_6519
6520,6520,6520,6520,6520,6520,6520,6520,6000666,Right ventricular regional dyskinesia,HPO,phenotype,PHENOTYPE_6520
6521,6521,6521,6521,6521,6521,6521,6521,6921,Axial muscle stiffness,HPO,phenotype,PHENOTYPE_6521
6522,6522,6522,6522,6522,6522,6522,6522,30261,Absent penis,HPO,phenotype,PHENOTYPE_6522
6523,6523,6523,6523,6523,6523,6523,6523,33068,Medication crystalluria,HPO,phenotype,PHENOTYPE_6523
6524,6524,6524,6524,6524,6524,6524,6524,10252,Ivory epiphyses of the distal phalanges of the hand,HPO,phenotype,PHENOTYPE_6524
6525,6525,6525,6525,6525,6525,6525,6525,32943,Abnormal urine pH,HPO,phenotype,PHENOTYPE_6525
6526,6526,6526,6526,6526,6526,6526,6526,34730,Elevated circulating S-adenosyl-L-homocysteine concentration,HPO,phenotype,PHENOTYPE_6526
6527,6527,6527,6527,6527,6527,6527,6527,7733,Laterally curved eyebrow,HPO,phenotype,PHENOTYPE_6527
6528,6528,6528,6528,6528,6528,6528,6528,25028,Abnormal enteric nervous system morphology,HPO,phenotype,PHENOTYPE_6528
6529,6529,6529,6529,6529,6529,6529,6529,6000074,Pharyngeal myxoma,HPO,phenotype,PHENOTYPE_6529
6530,6530,6530,6530,6530,6530,6530,6530,633,Decreased lacrimation,HPO,phenotype,PHENOTYPE_6530
6531,6531,6531,6531,6531,6531,6531,6531,1317,Abnormal cerebellum morphology,HPO,phenotype,PHENOTYPE_6531
6532,6532,6532,6532,6532,6532,6532,6532,30109,Absent muscle fiber gamma sarcoglycan,HPO,phenotype,PHENOTYPE_6532
6533,6533,6533,6533,6533,6533,6533,6533,2401,Stroke-like episode,HPO,phenotype,PHENOTYPE_6533
6534,6534,6534,6534,6534,6534,6534,6534,1902,Giant platelets,HPO,phenotype,PHENOTYPE_6534
6535,6535,6535,6535,6535,6535,6535,6535,34290,Elevated circulating tiglylglycine concentration,HPO,phenotype,PHENOTYPE_6535
6536,6536,6536,6536,6536,6536,6536,6536,7834,Progressive cataract,HPO,phenotype,PHENOTYPE_6536
6537,6537,6537,6537,6537,6537,6537,6537,34795,Excess residual spermatozoal cytoplasm,HPO,phenotype,PHENOTYPE_6537
6538,6538,6538,6538,6538,6538,6538,6538,33423,Pulmonary arterial hypertension with positive acute response to NO challenge,HPO,phenotype,PHENOTYPE_6538
6539,6539,6539,6539,6539,6539,6539,6539,1832,Abnormal metatarsal morphology,HPO,phenotype,PHENOTYPE_6539
6540,6540,6540,6540,6540,6540,6540,6540,10321,Abnormal fourth toe morphology,HPO,phenotype,PHENOTYPE_6540
6541,6541,6541,6541,6541,6541,6541,6541,32132,Decreased circulating total IgG concentration,HPO,phenotype,PHENOTYPE_6541
6542,6542,6542,6542,6542,6542,6542,6542,33579,Decreased growth hormone responses to growth hormone-releasing hormone challenge,HPO,phenotype,PHENOTYPE_6542
6543,6543,6543,6543,6543,6543,6543,6543,10810,Long uvula,HPO,phenotype,PHENOTYPE_6543
6544,6544,6544,6544,6544,6544,6544,6544,8073,Low maternal circulating estriol concentration,HPO,phenotype,PHENOTYPE_6544
6545,6545,6545,6545,6545,6545,6545,6545,6000011,Excessive guilt,HPO,phenotype,PHENOTYPE_6545
6546,6546,6546,6546,6546,6546,6546,6546,31451,Lower extremity subcutanous fat hypertrophy,HPO,phenotype,PHENOTYPE_6546
6547,6547,6547,6547,6547,6547,6547,6547,6000652,Rib spur,HPO,phenotype,PHENOTYPE_6547
6548,6548,6548,6548,6548,6548,6548,6548,12349,Abnormal sialylation of N-linked protein glycosylation,HPO,phenotype,PHENOTYPE_6548
6549,6549,6549,6549,6549,6549,6549,6549,7233,Clusters of axonal regeneration,HPO,phenotype,PHENOTYPE_6549
6550,6550,6550,6550,6550,6550,6550,6550,12067,Glycopeptiduria,HPO,phenotype,PHENOTYPE_6550
6551,6551,6551,6551,6551,6551,6551,6551,829,Hypoparathyroidism,HPO,phenotype,PHENOTYPE_6551
6552,6552,6552,6552,6552,6552,6552,6552,10780,Hyperacusis,HPO,phenotype,PHENOTYPE_6552
6553,6553,6553,6553,6553,6553,6553,6553,30547,Unaided visual acuity 1.2 LogMAR,HPO,phenotype,PHENOTYPE_6553
6554,6554,6554,6554,6554,6554,6554,6554,10421,Duplication of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_6554
6555,6555,6555,6555,6555,6555,6555,6555,10377,Symphalangism affecting the phalanges of the 4th toe,HPO,phenotype,PHENOTYPE_6555
6556,6556,6556,6556,6556,6556,6556,6556,3898,Large humeral epiphyses,HPO,phenotype,PHENOTYPE_6556
6557,6557,6557,6557,6557,6557,6557,6557,11980,Cholesterol gallstones,HPO,phenotype,PHENOTYPE_6557
6558,6558,6558,6558,6558,6558,6558,6558,34061,Anti-steroid 17alpha-hydroxylase antibody positivity,HPO,phenotype,PHENOTYPE_6558
6559,6559,6559,6559,6559,6559,6559,6559,100850,Neoplasm of the penis,HPO,phenotype,PHENOTYPE_6559
6560,6560,6560,6560,6560,6560,6560,6560,30534,Abnormal best corrected visual acuity test,HPO,phenotype,PHENOTYPE_6560
6561,6561,6561,6561,6561,6561,6561,6561,30544,Unaided visual acuity 0.9 LogMAR,HPO,phenotype,PHENOTYPE_6561
6562,6562,6562,6562,6562,6562,6562,6562,25795,Positive urine infectious agent test,HPO,phenotype,PHENOTYPE_6562
6563,6563,6563,6563,6563,6563,6563,6563,25397,Mosaic attenuation pattern on pulmonary HRCT,HPO,phenotype,PHENOTYPE_6563
6564,6564,6564,6564,6564,6564,6564,6564,410062,Increased level of galactitol in urine,HPO,phenotype,PHENOTYPE_6564
6565,6565,6565,6565,6565,6565,6565,6565,40145,Dicarboxylic acidemia,HPO,phenotype,PHENOTYPE_6565
6566,6566,6566,6566,6566,6566,6566,6566,11741,Secondary hyperaldosteronism,HPO,phenotype,PHENOTYPE_6566
6567,6567,6567,6567,6567,6567,6567,6567,857,Neonatal insulin-dependent diabetes mellitus,HPO,phenotype,PHENOTYPE_6567
6568,6568,6568,6568,6568,6568,6568,6568,5200028,Reduced responsiveness to social cues,HPO,phenotype,PHENOTYPE_6568
6569,6569,6569,6569,6569,6569,6569,6569,20100,Unusual fungal infection,HPO,phenotype,PHENOTYPE_6569
6570,6570,6570,6570,6570,6570,6570,6570,10026,Aplasia/Hypoplasia of the 1st metacarpal,HPO,phenotype,PHENOTYPE_6570
6571,6571,6571,6571,6571,6571,6571,6571,100605,Neoplasm of the larynx,HPO,phenotype,PHENOTYPE_6571
6572,6572,6572,6572,6572,6572,6572,6572,10112,Mesoaxial foot polydactyly,HPO,phenotype,PHENOTYPE_6572
6573,6573,6573,6573,6573,6573,6573,6573,12425,Stercoral ulcer,HPO,phenotype,PHENOTYPE_6573
6574,6574,6574,6574,6574,6574,6574,6574,1928,Abnormality of coagulation,HPO,phenotype,PHENOTYPE_6574
6575,6575,6575,6575,6575,6575,6575,6575,11332,Hemifacial hypoplasia,HPO,phenotype,PHENOTYPE_6575
6576,6576,6576,6576,6576,6576,6576,6576,25698,Mucin casts,HPO,phenotype,PHENOTYPE_6576
6577,6577,6577,6577,6577,6577,6577,6577,410271,Laryngeal hemangioma,HPO,phenotype,PHENOTYPE_6577
6578,6578,6578,6578,6578,6578,6578,6578,9744,Abnormal spinal dura mater morphology,HPO,phenotype,PHENOTYPE_6578
6579,6579,6579,6579,6579,6579,6579,6579,6283,Multiple unerupted teeth,HPO,phenotype,PHENOTYPE_6579
6580,6580,6580,6580,6580,6580,6580,6580,32076,Abnormal male urethral meatus morphology,HPO,phenotype,PHENOTYPE_6580
6581,6581,6581,6581,6581,6581,6581,6581,9149,Triangular epiphysis of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_6581
6582,6582,6582,6582,6582,6582,6582,6582,6000790,Exacerbated by pronation,HPO,phenotype,PHENOTYPE_6582
6583,6583,6583,6583,6583,6583,6583,6583,3885,Undermodeled humerus,HPO,phenotype,PHENOTYPE_6583
6584,6584,6584,6584,6584,6584,6584,6584,31151,Vitreomacular traction,HPO,phenotype,PHENOTYPE_6584
6585,6585,6585,6585,6585,6585,6585,6585,40200,Motor impersistence,HPO,phenotype,PHENOTYPE_6585
6586,6586,6586,6586,6586,6586,6586,6586,41156,Fractured orbit of skull,HPO,phenotype,PHENOTYPE_6586
6587,6587,6587,6587,6587,6587,6587,6587,2218,Silver-gray hair,HPO,phenotype,PHENOTYPE_6587
6588,6588,6588,6588,6588,6588,6588,6588,10543,Opsoclonus,HPO,phenotype,PHENOTYPE_6588
6589,6589,6589,6589,6589,6589,6589,6589,30015,Female anorgasmia,HPO,phenotype,PHENOTYPE_6589
6590,6590,6590,6590,6590,6590,6590,6590,2415,Leukodystrophy,HPO,phenotype,PHENOTYPE_6590
6591,6591,6591,6591,6591,6591,6591,6591,7980,Absent retinal pigment epithelium,HPO,phenotype,PHENOTYPE_6591
6592,6592,6592,6592,6592,6592,6592,6592,40126,Abnormal circulating vitamin B12 concentration,HPO,phenotype,PHENOTYPE_6592
6593,6593,6593,6593,6593,6593,6593,6593,34869,Reduced erythrocyte free porphyrin concentration,HPO,phenotype,PHENOTYPE_6593
6594,6594,6594,6594,6594,6594,6594,6594,5541,Congenital agranulocytosis,HPO,phenotype,PHENOTYPE_6594
6595,6595,6595,6595,6595,6595,6595,6595,40283,Occasional,HPO,phenotype,PHENOTYPE_6595
6596,6596,6596,6596,6596,6596,6596,6596,30210,Anti-muscle-specific tyrosine kinase antibody,HPO,phenotype,PHENOTYPE_6596
6597,6597,6597,6597,6597,6597,6597,6597,40169,Loose anagen hair,HPO,phenotype,PHENOTYPE_6597
6598,6598,6598,6598,6598,6598,6598,6598,100455,Osteolytic defects of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_6598
6599,6599,6599,6599,6599,6599,6599,6599,32211,Increased urinary epithelial cell count,HPO,phenotype,PHENOTYPE_6599
6600,6600,6600,6600,6600,6600,6600,6600,10898,Abnormal circulating sarcosine concentration,HPO,phenotype,PHENOTYPE_6600
6601,6601,6601,6601,6601,6601,6601,6601,34880,Adrenal mass,HPO,phenotype,PHENOTYPE_6601
6602,6602,6602,6602,6602,6602,6602,6602,31542,Myelin-like whorls in vacuolated fibers,HPO,phenotype,PHENOTYPE_6602
6603,6603,6603,6603,6603,6603,6603,6603,5411,Chronic intestinal candidiasis,HPO,phenotype,PHENOTYPE_6603
6604,6604,6604,6604,6604,6604,6604,6604,32323,Periodic fever,HPO,phenotype,PHENOTYPE_6604
6605,6605,6605,6605,6605,6605,6605,6605,30136,Enhanced ristocetin cofactor assay activity,HPO,phenotype,PHENOTYPE_6605
6606,6606,6606,6606,6606,6606,6606,6606,4354,Abnormal circulating carboxylic acid concentration,HPO,phenotype,PHENOTYPE_6606
6607,6607,6607,6607,6607,6607,6607,6607,6000176,Anterior neck swelling,HPO,phenotype,PHENOTYPE_6607
6608,6608,6608,6608,6608,6608,6608,6608,3119,Abnormal circulating lipid concentration,HPO,phenotype,PHENOTYPE_6608
6609,6609,6609,6609,6609,6609,6609,6609,11754,Pituicytoma,HPO,phenotype,PHENOTYPE_6609
6610,6610,6610,6610,6610,6610,6610,6610,8161,Absent leukocyte alkaline phosphatase,HPO,phenotype,PHENOTYPE_6610
6611,6611,6611,6611,6611,6611,6611,6611,6270,Hypoplastic spleen,HPO,phenotype,PHENOTYPE_6611
6612,6612,6612,6612,6612,6612,6612,6612,5036,Unilateral ulnar hypoplasia,HPO,phenotype,PHENOTYPE_6612
6613,6613,6613,6613,6613,6613,6613,6613,30578,Pinhole visual acuity 1.0 LogMAR,HPO,phenotype,PHENOTYPE_6613
6614,6614,6614,6614,6614,6614,6614,6614,6000382,Short esophagus,HPO,phenotype,PHENOTYPE_6614
6615,6615,6615,6615,6615,6615,6615,6615,5183,Pericardial lymphangiectasia,HPO,phenotype,PHENOTYPE_6615
6616,6616,6616,6616,6616,6616,6616,6616,34624,Spinal cord xanthomatosis,HPO,phenotype,PHENOTYPE_6616
6617,6617,6617,6617,6617,6617,6617,6617,32212,Increased urinary squamous epithelial cell count,HPO,phenotype,PHENOTYPE_6617
6618,6618,6618,6618,6618,6618,6618,6618,5010,Osteomyelitis leading to amputation due to slow healing fractures,HPO,phenotype,PHENOTYPE_6618
6619,6619,6619,6619,6619,6619,6619,6619,3212,Increased circulating IgE concentration,HPO,phenotype,PHENOTYPE_6619
6620,6620,6620,6620,6620,6620,6620,6620,34805,Buttock pain,HPO,phenotype,PHENOTYPE_6620
6621,6621,6621,6621,6621,6621,6621,6621,410293,Absent isohemagglutinin level,HPO,phenotype,PHENOTYPE_6621
6622,6622,6622,6622,6622,6622,6622,6622,5200009,Midline hand movements,HPO,phenotype,PHENOTYPE_6622
6623,6623,6623,6623,6623,6623,6623,6623,1072,Thickened skin,HPO,phenotype,PHENOTYPE_6623
6624,6624,6624,6624,6624,6624,6624,6624,32837,Bilateral asymmetric neonatal sequential seizure,HPO,phenotype,PHENOTYPE_6624
6625,6625,6625,6625,6625,6625,6625,6625,25540,Abnormal T cell subset distribution,HPO,phenotype,PHENOTYPE_6625
6626,6626,6626,6626,6626,6626,6626,6626,25521,Increased body fat percentage,HPO,phenotype,PHENOTYPE_6626
6627,6627,6627,6627,6627,6627,6627,6627,31433,Alexithymia,HPO,phenotype,PHENOTYPE_6627
6628,6628,6628,6628,6628,6628,6628,6628,45050,Increased DLCO,HPO,phenotype,PHENOTYPE_6628
6629,6629,6629,6629,6629,6629,6629,6629,25640,Abnormal urinary mineral level,HPO,phenotype,PHENOTYPE_6629
6630,6630,6630,6630,6630,6630,6630,6630,12312,Monocytopenia,HPO,phenotype,PHENOTYPE_6630
6631,6631,6631,6631,6631,6631,6631,6631,31060,Impaired ability to dress oneself,HPO,phenotype,PHENOTYPE_6631
6632,6632,6632,6632,6632,6632,6632,6632,6000247,Esophageal mass,HPO,phenotype,PHENOTYPE_6632
6633,6633,6633,6633,6633,6633,6633,6633,34431,Joint crepitus,HPO,phenotype,PHENOTYPE_6633
6634,6634,6634,6634,6634,6634,6634,6634,33438,Elevated circulating myoglobin concentration,HPO,phenotype,PHENOTYPE_6634
6635,6635,6635,6635,6635,6635,6635,6635,25283,Tender,HPO,phenotype,PHENOTYPE_6635
6636,6636,6636,6636,6636,6636,6636,6636,30763,Amniotic Sheet,HPO,phenotype,PHENOTYPE_6636
6637,6637,6637,6637,6637,6637,6637,6637,31553,Reduced granulocyte surface marker level,HPO,phenotype,PHENOTYPE_6637
6638,6638,6638,6638,6638,6638,6638,6638,40258,Hypoplastic nasopharyngeal adenoids,HPO,phenotype,PHENOTYPE_6638
6639,6639,6639,6639,6639,6639,6639,6639,41182,Fractured middle phalanx of manual digit 2,HPO,phenotype,PHENOTYPE_6639
6640,6640,6640,6640,6640,6640,6640,6640,2308,Chiari malformation,HPO,phenotype,PHENOTYPE_6640
6641,6641,6641,6641,6641,6641,6641,6641,29,Testicular atrophy,HPO,phenotype,PHENOTYPE_6641
6642,6642,6642,6642,6642,6642,6642,6642,9469,Contracture of the distal interphalangeal joint of the 3rd finger,HPO,phenotype,PHENOTYPE_6642
6643,6643,6643,6643,6643,6643,6643,6643,2742,Recurrent Klebsiella infections,HPO,phenotype,PHENOTYPE_6643
6644,6644,6644,6644,6644,6644,6644,6644,11971,Dermatographic urticaria,HPO,phenotype,PHENOTYPE_6644
6645,6645,6645,6645,6645,6645,6645,6645,2003,Large forehead,HPO,phenotype,PHENOTYPE_6645
6646,6646,6646,6646,6646,6646,6646,6646,5550,Chronic lymphatic leukemia,HPO,phenotype,PHENOTYPE_6646
6647,6647,6647,6647,6647,6647,6647,6647,31524,Ampulla of Vater carcinoma,HPO,phenotype,PHENOTYPE_6647
6648,6648,6648,6648,6648,6648,6648,6648,33731,Focal lupus nephritis,HPO,phenotype,PHENOTYPE_6648
6649,6649,6649,6649,6649,6649,6649,6649,45005,Neural tube defect,HPO,phenotype,PHENOTYPE_6649
6650,6650,6650,6650,6650,6650,6650,6650,34100,Anti-phosphatidyl serine antibody positivity,HPO,phenotype,PHENOTYPE_6650
6651,6651,6651,6651,6651,6651,6651,6651,34277,Elevated circulating deoxyuridine concentration,HPO,phenotype,PHENOTYPE_6651
6652,6652,6652,6652,6652,6652,6652,6652,200153,Agenesis of lateral incisor,HPO,phenotype,PHENOTYPE_6652
6653,6653,6653,6653,6653,6653,6653,6653,35033,Reduced circulating octadecenoylcarnitine concentration,HPO,phenotype,PHENOTYPE_6653
6654,6654,6654,6654,6654,6654,6654,6654,6000105,Vaginal mass,HPO,phenotype,PHENOTYPE_6654
6655,6655,6655,6655,6655,6655,6655,6655,3548,Subsarcolemmal accumulations of abnormally shaped mitochondria,HPO,phenotype,PHENOTYPE_6655
6656,6656,6656,6656,6656,6656,6656,6656,33943,Arcuate vein medial/intimal coagulative necrosis,HPO,phenotype,PHENOTYPE_6656
6657,6657,6657,6657,6657,6657,6657,6657,430089,Anti-schistosoma antibody positivity,HPO,phenotype,PHENOTYPE_6657
6658,6658,6658,6658,6658,6658,6658,6658,6385,Short lower limbs,HPO,phenotype,PHENOTYPE_6658
6659,6659,6659,6659,6659,6659,6659,6659,5906,Delayed pneumatization of the mastoid process,HPO,phenotype,PHENOTYPE_6659
6660,6660,6660,6660,6660,6660,6660,6660,6000420,Burning eye sensation,HPO,phenotype,PHENOTYPE_6660
6661,6661,6661,6661,6661,6661,6661,6661,6727,T-cell acute lymphoblastic leukemias,HPO,phenotype,PHENOTYPE_6661
6662,6662,6662,6662,6662,6662,6662,6662,3440,Horizontal sacrum,HPO,phenotype,PHENOTYPE_6662
6663,6663,6663,6663,6663,6663,6663,6663,6000970,Diminished sulfotransferase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_6663
6664,6664,6664,6664,6664,6664,6664,6664,30636,Occult macular dystrophy,HPO,phenotype,PHENOTYPE_6664
6665,6665,6665,6665,6665,6665,6665,6665,6000123,Elevated urinary 2'-deoxyadenosine level,HPO,phenotype,PHENOTYPE_6665
6666,6666,6666,6666,6666,6666,6666,6666,9658,Aplasia/Hypoplasia of the phalanges of the thumb,HPO,phenotype,PHENOTYPE_6666
6667,6667,6667,6667,6667,6667,6667,6667,2958,Immune dysregulation,HPO,phenotype,PHENOTYPE_6667
6668,6668,6668,6668,6668,6668,6668,6668,6000817,Melorheostosis,HPO,phenotype,PHENOTYPE_6668
6669,6669,6669,6669,6669,6669,6669,6669,30294,Metaphyseal chondromatosis of tibia,HPO,phenotype,PHENOTYPE_6669
6670,6670,6670,6670,6670,6670,6670,6670,25762,Anti-ganglionic acetylcholine receptor antibody positivity,HPO,phenotype,PHENOTYPE_6670
6671,6671,6671,6671,6671,6671,6671,6671,31876,Decreased circulating hepcidin concentration,HPO,phenotype,PHENOTYPE_6671
6672,6672,6672,6672,6672,6672,6672,6672,32322,Healthy,HPO,phenotype,PHENOTYPE_6672
6673,6673,6673,6673,6673,6673,6673,6673,100523,Liver abscess,HPO,phenotype,PHENOTYPE_6673
6674,6674,6674,6674,6674,6674,6674,6674,9645,Osteolytic defect of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_6674
6675,6675,6675,6675,6675,6675,6675,6675,6140,Premature fusion of phalangeal epiphyses,HPO,phenotype,PHENOTYPE_6675
6676,6676,6676,6676,6676,6676,6676,6676,6000992,"Elevated urinary 2,4-dihydroxybutyric acid level",HPO,phenotype,PHENOTYPE_6676
6677,6677,6677,6677,6677,6677,6677,6677,5143,Anomalous origin of right pulmonary artery from ascending aorta,HPO,phenotype,PHENOTYPE_6677
6678,6678,6678,6678,6678,6678,6678,6678,7249,Decreased number of small peripheral myelinated nerve fibers,HPO,phenotype,PHENOTYPE_6678
6679,6679,6679,6679,6679,6679,6679,6679,6000211,Elevated CSF dihydrouracil concentration,HPO,phenotype,PHENOTYPE_6679
6680,6680,6680,6680,6680,6680,6680,6680,8812,Flattened femoral head,HPO,phenotype,PHENOTYPE_6680
6681,6681,6681,6681,6681,6681,6681,6681,8456,C2-C3 subluxation,HPO,phenotype,PHENOTYPE_6681
6682,6682,6682,6682,6682,6682,6682,6682,4000004,Myocardial late gadolinium enhancement,HPO,phenotype,PHENOTYPE_6682
6683,6683,6683,6683,6683,6683,6683,6683,6000919,Trousseau sign,HPO,phenotype,PHENOTYPE_6683
6684,6684,6684,6684,6684,6684,6684,6684,34479,Enlarged epididymis,HPO,phenotype,PHENOTYPE_6684
6685,6685,6685,6685,6685,6685,6685,6685,12266,T-wave alternans,HPO,phenotype,PHENOTYPE_6685
6686,6686,6686,6686,6686,6686,6686,6686,8052,Retinal fold,HPO,phenotype,PHENOTYPE_6686
6687,6687,6687,6687,6687,6687,6687,6687,7185,Loss of consciousness,HPO,phenotype,PHENOTYPE_6687
6688,6688,6688,6688,6688,6688,6688,6688,9828,Peromelia,HPO,phenotype,PHENOTYPE_6688
6689,6689,6689,6689,6689,6689,6689,6689,12737,Small intestinal polyp,HPO,phenotype,PHENOTYPE_6689
6690,6690,6690,6690,6690,6690,6690,6690,2378,Hand tremor,HPO,phenotype,PHENOTYPE_6690
6691,6691,6691,6691,6691,6691,6691,6691,31643,Fusiform ascending tubular aorta aneurysm,HPO,phenotype,PHENOTYPE_6691
6692,6692,6692,6692,6692,6692,6692,6692,6000399,Elevated CSF alpha-crystallin B chain concentration,HPO,phenotype,PHENOTYPE_6692
6693,6693,6693,6693,6693,6693,6693,6693,1106,Periorbital hyperpigmentation,HPO,phenotype,PHENOTYPE_6693
6694,6694,6694,6694,6694,6694,6694,6694,6001087,Irregular P-P interval,HPO,phenotype,PHENOTYPE_6694
6695,6695,6695,6695,6695,6695,6695,6695,9294,Absent middle phalanx of 4th finger,HPO,phenotype,PHENOTYPE_6695
6696,6696,6696,6696,6696,6696,6696,6696,3810,Late-onset distal muscle weakness,HPO,phenotype,PHENOTYPE_6696
6697,6697,6697,6697,6697,6697,6697,6697,100200,Stippling of the epiphysis of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_6697
6698,6698,6698,6698,6698,6698,6698,6698,7332,Focal hemifacial clonic seizure,HPO,phenotype,PHENOTYPE_6698
6699,6699,6699,6699,6699,6699,6699,6699,45042,Decreased circulating complement C4 concentration,HPO,phenotype,PHENOTYPE_6699
6700,6700,6700,6700,6700,6700,6700,6700,34881,Uterine mass,HPO,phenotype,PHENOTYPE_6700
6701,6701,6701,6701,6701,6701,6701,6701,3396,Syringomyelia,HPO,phenotype,PHENOTYPE_6701
6702,6702,6702,6702,6702,6702,6702,6702,100497,Vitamin B3 deficiency,HPO,phenotype,PHENOTYPE_6702
6703,6703,6703,6703,6703,6703,6703,6703,5645,Intervertebral disk calcification,HPO,phenotype,PHENOTYPE_6703
6704,6704,6704,6704,6704,6704,6704,6704,31247,Whooping cough,HPO,phenotype,PHENOTYPE_6704
6705,6705,6705,6705,6705,6705,6705,6705,12680,Abnormality of the pineal gland,HPO,phenotype,PHENOTYPE_6705
6706,6706,6706,6706,6706,6706,6706,6706,9961,Partial duplication of the phalanges of the 3rd finger,HPO,phenotype,PHENOTYPE_6706
6707,6707,6707,6707,6707,6707,6707,6707,25508,Gottron's papules,HPO,phenotype,PHENOTYPE_6707
6708,6708,6708,6708,6708,6708,6708,6708,33893,Renal arteriolar lumen organized thrombi,HPO,phenotype,PHENOTYPE_6708
6709,6709,6709,6709,6709,6709,6709,6709,25218,Triggered by hyperventilation,HPO,phenotype,PHENOTYPE_6709
6710,6710,6710,6710,6710,6710,6710,6710,40240,Increased ratio of VWF propeptide to VWF antigen,HPO,phenotype,PHENOTYPE_6710
6711,6711,6711,6711,6711,6711,6711,6711,11737,Corticotropin-releasing hormone deficient adrenal insufficiency,HPO,phenotype,PHENOTYPE_6711
6712,6712,6712,6712,6712,6712,6712,6712,410291,Negativism,HPO,phenotype,PHENOTYPE_6712
6713,6713,6713,6713,6713,6713,6713,6713,32763,Focal autonomic seizure with pupillary dilation/constriction,HPO,phenotype,PHENOTYPE_6713
6714,6714,6714,6714,6714,6714,6714,6714,41121,Fractured epiphysis of fifth metacarpal bone,HPO,phenotype,PHENOTYPE_6714
6715,6715,6715,6715,6715,6715,6715,6715,32922,Focal impaired awareness perseverative automatism seizure,HPO,phenotype,PHENOTYPE_6715
6716,6716,6716,6716,6716,6716,6716,6716,30254,Nail bed hemorrhage,HPO,phenotype,PHENOTYPE_6716
6717,6717,6717,6717,6717,6717,6717,6717,6000940,Thumb hypoplasia grade 3A,HPO,phenotype,PHENOTYPE_6717
6718,6718,6718,6718,6718,6718,6718,6718,500017,Abnormal cardiac catheterization,HPO,phenotype,PHENOTYPE_6718
6719,6719,6719,6719,6719,6719,6719,6719,40179,Decreased level of platelet-activating factor,HPO,phenotype,PHENOTYPE_6719
6720,6720,6720,6720,6720,6720,6720,6720,31421,Small superior frontal cortex,HPO,phenotype,PHENOTYPE_6720
6721,6721,6721,6721,6721,6721,6721,6721,12033,Sacral lipoma,HPO,phenotype,PHENOTYPE_6721
6722,6722,6722,6722,6722,6722,6722,6722,2020,Gastroesophageal reflux,HPO,phenotype,PHENOTYPE_6722
6723,6723,6723,6723,6723,6723,6723,6723,41,Chordee,HPO,phenotype,PHENOTYPE_6723
6724,6724,6724,6724,6724,6724,6724,6724,20093,Recurrent deep organ abscess formation,HPO,phenotype,PHENOTYPE_6724
6725,6725,6725,6725,6725,6725,6725,6725,6330,Rotated maxillary central incisors,HPO,phenotype,PHENOTYPE_6725
6726,6726,6726,6726,6726,6726,6726,6726,30038,Enchondroma,HPO,phenotype,PHENOTYPE_6726
6727,6727,6727,6727,6727,6727,6727,6727,4000136,6-mercaptopurine exposure,HPO,phenotype,PHENOTYPE_6727
6728,6728,6728,6728,6728,6728,6728,6728,7285,Facial palsy secondary to cranial hyperostosis,HPO,phenotype,PHENOTYPE_6728
6729,6729,6729,6729,6729,6729,6729,6729,30226,Abnormal muscle fiber myotilin,HPO,phenotype,PHENOTYPE_6729
6730,6730,6730,6730,6730,6730,6730,6730,11370,Recurrent cutaneous fungal infections,HPO,phenotype,PHENOTYPE_6730
6731,6731,6731,6731,6731,6731,6731,6731,10505,Limitation of movement at ankles,HPO,phenotype,PHENOTYPE_6731
6732,6732,6732,6732,6732,6732,6732,6732,11490,Abnormal Descemet membrane morphology,HPO,phenotype,PHENOTYPE_6732
6733,6733,6733,6733,6733,6733,6733,6733,8272,Renal tubular lysine transport defect,HPO,phenotype,PHENOTYPE_6733
6734,6734,6734,6734,6734,6734,6734,6734,2777,Tracheal stenosis,HPO,phenotype,PHENOTYPE_6734
6735,6735,6735,6735,6735,6735,6735,6735,34798,CSF hemophagocytosis,HPO,phenotype,PHENOTYPE_6735
6736,6736,6736,6736,6736,6736,6736,6736,32091,Translamellar aortic medial fibrosis,HPO,phenotype,PHENOTYPE_6736
6737,6737,6737,6737,6737,6737,6737,6737,100643,Abnormality of nail color,HPO,phenotype,PHENOTYPE_6737
6738,6738,6738,6738,6738,6738,6738,6738,6518,Pulmonary venous occlusion,HPO,phenotype,PHENOTYPE_6738
6739,6739,6739,6739,6739,6739,6739,6739,41212,Fractured proximal phalanx of digit 3,HPO,phenotype,PHENOTYPE_6739
6740,6740,6740,6740,6740,6740,6740,6740,33318,Fibrocellular crescent,HPO,phenotype,PHENOTYPE_6740
6741,6741,6741,6741,6741,6741,6741,6741,41150,Fractured cuboid bone,HPO,phenotype,PHENOTYPE_6741
6742,6742,6742,6742,6742,6742,6742,6742,4972,Elevated mean arterial pressure,HPO,phenotype,PHENOTYPE_6742
6743,6743,6743,6743,6743,6743,6743,6743,33601,Glomerular subepithelial immune-complex deposits,HPO,phenotype,PHENOTYPE_6743
6744,6744,6744,6744,6744,6744,6744,6744,9325,Fragmentation of the epiphysis of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_6744
6745,6745,6745,6745,6745,6745,6745,6745,34817,Moderate oligozoospermia,HPO,phenotype,PHENOTYPE_6745
6746,6746,6746,6746,6746,6746,6746,6746,6000290,Prevertebral space enlargement,HPO,phenotype,PHENOTYPE_6746
6747,6747,6747,6747,6747,6747,6747,6747,10953,Noncommunicating hydrocephalus,HPO,phenotype,PHENOTYPE_6747
6748,6748,6748,6748,6748,6748,6748,6748,32586,Renal interstitial plasma cell infiltration,HPO,phenotype,PHENOTYPE_6748
6749,6749,6749,6749,6749,6749,6749,6749,33196,Portal inflammation,HPO,phenotype,PHENOTYPE_6749
6750,6750,6750,6750,6750,6750,6750,6750,12739,Agenesis of the small intestine,HPO,phenotype,PHENOTYPE_6750
6751,6751,6751,6751,6751,6751,6751,6751,3752,Episodic flaccid weakness,HPO,phenotype,PHENOTYPE_6751
6752,6752,6752,6752,6752,6752,6752,6752,31087,Absent pubertal growth spurt,HPO,phenotype,PHENOTYPE_6752
6753,6753,6753,6753,6753,6753,6753,6753,4000213,Elevated circulating hyaluronic acid concentration,HPO,phenotype,PHENOTYPE_6753
6754,6754,6754,6754,6754,6754,6754,6754,30498,Macular thickening,HPO,phenotype,PHENOTYPE_6754
6755,6755,6755,6755,6755,6755,6755,6755,6263,Abnormality of the epiphyses of the 2nd finger,HPO,phenotype,PHENOTYPE_6755
6756,6756,6756,6756,6756,6756,6756,6756,4000134,Prostaglandin E1 exposure,HPO,phenotype,PHENOTYPE_6756
6757,6757,6757,6757,6757,6757,6757,6757,41234,Fractured bone of jaw,HPO,phenotype,PHENOTYPE_6757
6758,6758,6758,6758,6758,6758,6758,6758,3174,Abnormal ischium morphology,HPO,phenotype,PHENOTYPE_6758
6759,6759,6759,6759,6759,6759,6759,6759,410054,Decreased circulating GABA concentration,HPO,phenotype,PHENOTYPE_6759
6760,6760,6760,6760,6760,6760,6760,6760,12864,Abnormal sperm morphology,HPO,phenotype,PHENOTYPE_6760
6761,6761,6761,6761,6761,6761,6761,6761,33461,Elevated circulating 3-hydroxylinoleylcarnitine concentration,HPO,phenotype,PHENOTYPE_6761
6762,6762,6762,6762,6762,6762,6762,6762,4231,Carpal bone aplasia,HPO,phenotype,PHENOTYPE_6762
6763,6763,6763,6763,6763,6763,6763,6763,410075,Increased CSF xylitol concentration,HPO,phenotype,PHENOTYPE_6763
6764,6764,6764,6764,6764,6764,6764,6764,6000836,Positive respiratory tract nucleic acid pathogen test,HPO,phenotype,PHENOTYPE_6764
6765,6765,6765,6765,6765,6765,6765,6765,1993,Ketoacidosis,HPO,phenotype,PHENOTYPE_6765
6766,6766,6766,6766,6766,6766,6766,6766,32771,Focal autonomic seizure with lacrimation,HPO,phenotype,PHENOTYPE_6766
6767,6767,6767,6767,6767,6767,6767,6767,2726,Recurrent Staphylococcus aureus infections,HPO,phenotype,PHENOTYPE_6767
6768,6768,6768,6768,6768,6768,6768,6768,11900,Hypofibrinogenemia,HPO,phenotype,PHENOTYPE_6768
6769,6769,6769,6769,6769,6769,6769,6769,5257,Thoracic hypoplasia,HPO,phenotype,PHENOTYPE_6769
6770,6770,6770,6770,6770,6770,6770,6770,31249,Parageusia,HPO,phenotype,PHENOTYPE_6770
6771,6771,6771,6771,6771,6771,6771,6771,11578,Transitional atrioventricular canal defect,HPO,phenotype,PHENOTYPE_6771
6772,6772,6772,6772,6772,6772,6772,6772,34840,Absence of epidermal lamellar bodies,HPO,phenotype,PHENOTYPE_6772
6773,6773,6773,6773,6773,6773,6773,6773,33897,Arcuate artery lumen cholesterol emboli,HPO,phenotype,PHENOTYPE_6773
6774,6774,6774,6774,6774,6774,6774,6774,11674,Cardiac teratoma,HPO,phenotype,PHENOTYPE_6774
6775,6775,6775,6775,6775,6775,6775,6775,41210,Fractured lateral malleolus of fibula,HPO,phenotype,PHENOTYPE_6775
6776,6776,6776,6776,6776,6776,6776,6776,12043,Pendular nystagmus,HPO,phenotype,PHENOTYPE_6776
6777,6777,6777,6777,6777,6777,6777,6777,9625,Metacarpophalangeal thumb joint contracture,HPO,phenotype,PHENOTYPE_6777
6778,6778,6778,6778,6778,6778,6778,6778,100863,Aplasia of the femoral neck,HPO,phenotype,PHENOTYPE_6778
6779,6779,6779,6779,6779,6779,6779,6779,11483,Anterior synechiae of the anterior chamber,HPO,phenotype,PHENOTYPE_6779
6780,6780,6780,6780,6780,6780,6780,6780,40416,Abnormal urinary nitrogen compound level,HPO,phenotype,PHENOTYPE_6780
6781,6781,6781,6781,6781,6781,6781,6781,33216,Glomerular hyalinosis,HPO,phenotype,PHENOTYPE_6781
6782,6782,6782,6782,6782,6782,6782,6782,25234,Parasomnia,HPO,phenotype,PHENOTYPE_6782
6783,6783,6783,6783,6783,6783,6783,6783,12699,Anomaly of lower limb diaphyses,HPO,phenotype,PHENOTYPE_6783
6784,6784,6784,6784,6784,6784,6784,6784,6000942,Thumb hypoplasia grade 4,HPO,phenotype,PHENOTYPE_6784
6785,6785,6785,6785,6785,6785,6785,6785,34258,Aplasia/Hypoplasia of the midbrain,HPO,phenotype,PHENOTYPE_6785
6786,6786,6786,6786,6786,6786,6786,6786,12095,Multiple joint dislocation,HPO,phenotype,PHENOTYPE_6786
6787,6787,6787,6787,6787,6787,6787,6787,6000001,Elevated circulating DNAJB9 protein concentration,HPO,phenotype,PHENOTYPE_6787
6788,6788,6788,6788,6788,6788,6788,6788,34900,Decreased amniotic fluid alpha-fetoprotein concentration,HPO,phenotype,PHENOTYPE_6788
6789,6789,6789,6789,6789,6789,6789,6789,33828,Middle mediastinal mass,HPO,phenotype,PHENOTYPE_6789
6790,6790,6790,6790,6790,6790,6790,6790,33857,Intraluminal thrombi within interlobular veins,HPO,phenotype,PHENOTYPE_6790
6791,6791,6791,6791,6791,6791,6791,6791,25602,Inferior rectus muscle restriction,HPO,phenotype,PHENOTYPE_6791
6792,6792,6792,6792,6792,6792,6792,6792,7063,Aplasia of the inferior half of the cerebellar vermis,HPO,phenotype,PHENOTYPE_6792
6793,6793,6793,6793,6793,6793,6793,6793,25460,High myoinositol in brain by MRS,HPO,phenotype,PHENOTYPE_6793
6794,6794,6794,6794,6794,6794,6794,6794,40306,Decreased male libido,HPO,phenotype,PHENOTYPE_6794
6795,6795,6795,6795,6795,6795,6795,6795,6565,Increased hepatocellular lipid droplets,HPO,phenotype,PHENOTYPE_6795
6796,6796,6796,6796,6796,6796,6796,6796,8418,Squared-off platyspondyly,HPO,phenotype,PHENOTYPE_6796
6797,6797,6797,6797,6797,6797,6797,6797,10299,Abnormal dentin morphology,HPO,phenotype,PHENOTYPE_6797
6798,6798,6798,6798,6798,6798,6798,6798,3000003,Abnormal mandibular ramus morphology,HPO,phenotype,PHENOTYPE_6798
6799,6799,6799,6799,6799,6799,6799,6799,33585,Fibrotic non-specific interstitial pneumonia,HPO,phenotype,PHENOTYPE_6799
6800,6800,6800,6800,6800,6800,6800,6800,30175,Myelin tomacula,HPO,phenotype,PHENOTYPE_6800
6801,6801,6801,6801,6801,6801,6801,6801,1289,Confusion,HPO,phenotype,PHENOTYPE_6801
6802,6802,6802,6802,6802,6802,6802,6802,2040,Esophageal varix,HPO,phenotype,PHENOTYPE_6802
6803,6803,6803,6803,6803,6803,6803,6803,12313,Heberden node,HPO,phenotype,PHENOTYPE_6803
6804,6804,6804,6804,6804,6804,6804,6804,6443,Patellar aplasia,HPO,phenotype,PHENOTYPE_6804
6805,6805,6805,6805,6805,6805,6805,6805,500230,Increased CSF glycine concentration,HPO,phenotype,PHENOTYPE_6805
6806,6806,6806,6806,6806,6806,6806,6806,12520,Dilation of Virchow-Robin spaces,HPO,phenotype,PHENOTYPE_6806
6807,6807,6807,6807,6807,6807,6807,6807,33492,Podocyte cytoskeletal condensation,HPO,phenotype,PHENOTYPE_6807
6808,6808,6808,6808,6808,6808,6808,6808,31567,Abnormal aortic valve cusp morphology,HPO,phenotype,PHENOTYPE_6808
6809,6809,6809,6809,6809,6809,6809,6809,69,Abnormality of the ureter,HPO,phenotype,PHENOTYPE_6809
6810,6810,6810,6810,6810,6810,6810,6810,33878,Arcuate vein lumen organized thrombi,HPO,phenotype,PHENOTYPE_6810
6811,6811,6811,6811,6811,6811,6811,6811,32443,Past medical history,HPO,phenotype,PHENOTYPE_6811
6812,6812,6812,6812,6812,6812,6812,6812,25630,Argininosuccinic aciduria,HPO,phenotype,PHENOTYPE_6812
6813,6813,6813,6813,6813,6813,6813,6813,20216,Visually-induced seizure,HPO,phenotype,PHENOTYPE_6813
6814,6814,6814,6814,6814,6814,6814,6814,6394,Limited pronation/supination of forearm,HPO,phenotype,PHENOTYPE_6814
6815,6815,6815,6815,6815,6815,6815,6815,10709,2-4 finger cutaneous syndactyly,HPO,phenotype,PHENOTYPE_6815
6816,6816,6816,6816,6816,6816,6816,6816,34327,Posterior corneal stroma punctiform multicolored opacities,HPO,phenotype,PHENOTYPE_6816
6817,6817,6817,6817,6817,6817,6817,6817,33425,Periungual erythema,HPO,phenotype,PHENOTYPE_6817
6818,6818,6818,6818,6818,6818,6818,6818,25727,Type 3 congenital pulmonary airway malformation,HPO,phenotype,PHENOTYPE_6818
6819,6819,6819,6819,6819,6819,6819,6819,7414,Neonatal wrinkled skin of hands and feet,HPO,phenotype,PHENOTYPE_6819
6820,6820,6820,6820,6820,6820,6820,6820,6000806,Elevated urinary phosphohydroxylysine level,HPO,phenotype,PHENOTYPE_6820
6821,6821,6821,6821,6821,6821,6821,6821,5932,Abnormal renal corticomedullary differentiation,HPO,phenotype,PHENOTYPE_6821
6822,6822,6822,6822,6822,6822,6822,6822,34412,Laryngeal mass,HPO,phenotype,PHENOTYPE_6822
6823,6823,6823,6823,6823,6823,6823,6823,1795,Hyperconvex nail,HPO,phenotype,PHENOTYPE_6823
6824,6824,6824,6824,6824,6824,6824,6824,20083,Furuncle,HPO,phenotype,PHENOTYPE_6824
6825,6825,6825,6825,6825,6825,6825,6825,7307,Rapid neurologic deterioration,HPO,phenotype,PHENOTYPE_6825
6826,6826,6826,6826,6826,6826,6826,6826,2938,Lumbar hyperlordosis,HPO,phenotype,PHENOTYPE_6826
6827,6827,6827,6827,6827,6827,6827,6827,973,Cutis laxa,HPO,phenotype,PHENOTYPE_6827
6828,6828,6828,6828,6828,6828,6828,6828,25546,Abnormal mean corpuscular hemoglobin concentration,HPO,phenotype,PHENOTYPE_6828
6829,6829,6829,6829,6829,6829,6829,6829,30290,Unossified sacrum,HPO,phenotype,PHENOTYPE_6829
6830,6830,6830,6830,6830,6830,6830,6830,32847,Focal impaired awareness hemifacial clonic seizure,HPO,phenotype,PHENOTYPE_6830
6831,6831,6831,6831,6831,6831,6831,6831,33924,Renal arteriole neutrophil endoarterial hypercellularity,HPO,phenotype,PHENOTYPE_6831
6832,6832,6832,6832,6832,6832,6832,6832,7141,Sensorimotor neuropathy,HPO,phenotype,PHENOTYPE_6832
6833,6833,6833,6833,6833,6833,6833,6833,8818,Large iliac wing,HPO,phenotype,PHENOTYPE_6833
6834,6834,6834,6834,6834,6834,6834,6834,3000076,Abnormality of lingual tonsil,HPO,phenotype,PHENOTYPE_6834
6835,6835,6835,6835,6835,6835,6835,6835,6000707,Noctural pain,HPO,phenotype,PHENOTYPE_6835
6836,6836,6836,6836,6836,6836,6836,6836,6000387,Anti-D-L antibody positivity,HPO,phenotype,PHENOTYPE_6836
6837,6837,6837,6837,6837,6837,6837,6837,7449,Confetti-like hypopigmented macules,HPO,phenotype,PHENOTYPE_6837
6838,6838,6838,6838,6838,6838,6838,6838,9816,Lower limb undergrowth,HPO,phenotype,PHENOTYPE_6838
6839,6839,6839,6839,6839,6839,6839,6839,4592,Thoracic platyspondyly,HPO,phenotype,PHENOTYPE_6839
6840,6840,6840,6840,6840,6840,6840,6840,4902,Congenital lactic acidosis,HPO,phenotype,PHENOTYPE_6840
6841,6841,6841,6841,6841,6841,6841,6841,4336,Myelin outfoldings,HPO,phenotype,PHENOTYPE_6841
6842,6842,6842,6842,6842,6842,6842,6842,32680,Focal cognitive seizure,HPO,phenotype,PHENOTYPE_6842
6843,6843,6843,6843,6843,6843,6843,6843,4664,Facial midline hemangioma,HPO,phenotype,PHENOTYPE_6843
6844,6844,6844,6844,6844,6844,6844,6844,9935,Aplasia/Hypoplasia of the nasal septum,HPO,phenotype,PHENOTYPE_6844
6845,6845,6845,6845,6845,6845,6845,6845,11854,Hemoperitoneum,HPO,phenotype,PHENOTYPE_6845
6846,6846,6846,6846,6846,6846,6846,6846,31673,Orthodromic atrioventricular reentrant tachycardia,HPO,phenotype,PHENOTYPE_6846
6847,6847,6847,6847,6847,6847,6847,6847,25061,Unifocal splenic abscess,HPO,phenotype,PHENOTYPE_6847
6848,6848,6848,6848,6848,6848,6848,6848,410174,Increased circulating troponin T concentration,HPO,phenotype,PHENOTYPE_6848
6849,6849,6849,6849,6849,6849,6849,6849,2965,Cutaneous anergy,HPO,phenotype,PHENOTYPE_6849
6850,6850,6850,6850,6850,6850,6850,6850,100182,Cone-shaped epiphysis of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_6850
6851,6851,6851,6851,6851,6851,6851,6851,32688,Focal aware cognitive seizure with dissociation,HPO,phenotype,PHENOTYPE_6851
6852,6852,6852,6852,6852,6852,6852,6852,11579,Unbalanced atrioventricular canal defect,HPO,phenotype,PHENOTYPE_6852
6853,6853,6853,6853,6853,6853,6853,6853,6000413,Ectopic ureteral orifice,HPO,phenotype,PHENOTYPE_6853
6854,6854,6854,6854,6854,6854,6854,6854,6000403,Elevated circulating lysophosphatidylcholine concentration,HPO,phenotype,PHENOTYPE_6854
6855,6855,6855,6855,6855,6855,6855,6855,6001118,History of recent peripheral venous catheter,HPO,phenotype,PHENOTYPE_6855
6856,6856,6856,6856,6856,6856,6856,6856,100265,Synostosis of metacarpals/metatarsals,HPO,phenotype,PHENOTYPE_6856
6857,6857,6857,6857,6857,6857,6857,6857,10493,Long metacarpals,HPO,phenotype,PHENOTYPE_6857
6858,6858,6858,6858,6858,6858,6858,6858,6000661,Phlebolith,HPO,phenotype,PHENOTYPE_6858
6859,6859,6859,6859,6859,6859,6859,6859,12765,Widened cerebellar subarachnoid space,HPO,phenotype,PHENOTYPE_6859
6860,6860,6860,6860,6860,6860,6860,6860,12653,Status asthmaticus,HPO,phenotype,PHENOTYPE_6860
6861,6861,6861,6861,6861,6861,6861,6861,34750,Supraclavicular lymphadenopathy,HPO,phenotype,PHENOTYPE_6861
6862,6862,6862,6862,6862,6862,6862,6862,25205,Triggered by breast feeding,HPO,phenotype,PHENOTYPE_6862
6863,6863,6863,6863,6863,6863,6863,6863,2793,Abnormal pattern of respiration,HPO,phenotype,PHENOTYPE_6863
6864,6864,6864,6864,6864,6864,6864,6864,3256,Abnormality of the coagulation cascade,HPO,phenotype,PHENOTYPE_6864
6865,6865,6865,6865,6865,6865,6865,6865,4926,Orthostatic hypotension due to autonomic dysfunction,HPO,phenotype,PHENOTYPE_6865
6866,6866,6866,6866,6866,6866,6866,6866,34147,Anti-aminoacyl-tRNA synthetase antibody positivity,HPO,phenotype,PHENOTYPE_6866
6867,6867,6867,6867,6867,6867,6867,6867,5612,Arthrogryposis-like hand anomaly,HPO,phenotype,PHENOTYPE_6867
6868,6868,6868,6868,6868,6868,6868,6868,31121,Bicuspid aortic valve with left-noncoronary cusp fusion,HPO,phenotype,PHENOTYPE_6868
6869,6869,6869,6869,6869,6869,6869,6869,100402,Duplication of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_6869
6870,6870,6870,6870,6870,6870,6870,6870,6803,Vivid hallucination,HPO,phenotype,PHENOTYPE_6870
6871,6871,6871,6871,6871,6871,6871,6871,31240,Juxtafoveal choroidal neovascularization,HPO,phenotype,PHENOTYPE_6871
6872,6872,6872,6872,6872,6872,6872,6872,1369,Arthritis,HPO,phenotype,PHENOTYPE_6872
6873,6873,6873,6873,6873,6873,6873,6873,33097,Increased urine proteinogenic amino acid derivative level,HPO,phenotype,PHENOTYPE_6873
6874,6874,6874,6874,6874,6874,6874,6874,33796,Abnormal leukocyte physiology,HPO,phenotype,PHENOTYPE_6874
6875,6875,6875,6875,6875,6875,6875,6875,6000345,Anti-human immunodeficiency virus antibody positivity,HPO,phenotype,PHENOTYPE_6875
6876,6876,6876,6876,6876,6876,6876,6876,5290,Internal carotid artery hypoplasia,HPO,phenotype,PHENOTYPE_6876
6877,6877,6877,6877,6877,6877,6877,6877,11952,Acute aspiration pneumonia,HPO,phenotype,PHENOTYPE_6877
6878,6878,6878,6878,6878,6878,6878,6878,30364,Secondary Caesarian section,HPO,phenotype,PHENOTYPE_6878
6879,6879,6879,6879,6879,6879,6879,6879,31970,Abnormal blood urea nitrogen concentration,HPO,phenotype,PHENOTYPE_6879
6880,6880,6880,6880,6880,6880,6880,6880,3000029,Abnormality of depressor labii inferioris,HPO,phenotype,PHENOTYPE_6880
6881,6881,6881,6881,6881,6881,6881,6881,31498,Mucinous gastric carcinoma,HPO,phenotype,PHENOTYPE_6881
6882,6882,6882,6882,6882,6882,6882,6882,3354,Hyperthreoninemia,HPO,phenotype,PHENOTYPE_6882
6883,6883,6883,6883,6883,6883,6883,6883,5297,Premature occlusive vascular stenosis,HPO,phenotype,PHENOTYPE_6883
6884,6884,6884,6884,6884,6884,6884,6884,9194,Small epiphyses of the metacarpals,HPO,phenotype,PHENOTYPE_6884
6885,6885,6885,6885,6885,6885,6885,6885,30037,Bifid ureter,HPO,phenotype,PHENOTYPE_6885
6886,6886,6886,6886,6886,6886,6886,6886,31335,Abnormal cardiomyocyte mitochondrial morphology,HPO,phenotype,PHENOTYPE_6886
6887,6887,6887,6887,6887,6887,6887,6887,2690,Large sella turcica,HPO,phenotype,PHENOTYPE_6887
6888,6888,6888,6888,6888,6888,6888,6888,12581,Simple renal cyst,HPO,phenotype,PHENOTYPE_6888
6889,6889,6889,6889,6889,6889,6889,6889,34767,Abnormal rete ridge morphology,HPO,phenotype,PHENOTYPE_6889
6890,6890,6890,6890,6890,6890,6890,6890,30656,Umbilical vein varix,HPO,phenotype,PHENOTYPE_6890
6891,6891,6891,6891,6891,6891,6891,6891,9881,Aplasia of the distal phalanges of the hand,HPO,phenotype,PHENOTYPE_6891
6892,6892,6892,6892,6892,6892,6892,6892,430057,Anti-chlamydia psittaci antibody positivity,HPO,phenotype,PHENOTYPE_6892
6893,6893,6893,6893,6893,6893,6893,6893,3861,Broad diaphyses of the upper limbs,HPO,phenotype,PHENOTYPE_6893
6894,6894,6894,6894,6894,6894,6894,6894,812,Abnormal internal genitalia,HPO,phenotype,PHENOTYPE_6894
6895,6895,6895,6895,6895,6895,6895,6895,11152,Early onset absence seizures,HPO,phenotype,PHENOTYPE_6895
6896,6896,6896,6896,6896,6896,6896,6896,9701,Metacarpal synostosis,HPO,phenotype,PHENOTYPE_6896
6897,6897,6897,6897,6897,6897,6897,6897,3000005,Abnormality of masseter muscle,HPO,phenotype,PHENOTYPE_6897
6898,6898,6898,6898,6898,6898,6898,6898,10175,Bullet-shaped toe phalanx,HPO,phenotype,PHENOTYPE_6898
6899,6899,6899,6899,6899,6899,6899,6899,895,Lateral clavicle hook,HPO,phenotype,PHENOTYPE_6899
6900,6900,6900,6900,6900,6900,6900,6900,5626,Posterior fusion of lumbosacral vertebrae,HPO,phenotype,PHENOTYPE_6900
6901,6901,6901,6901,6901,6901,6901,6901,41157,Fractured larynx,HPO,phenotype,PHENOTYPE_6901
6902,6902,6902,6902,6902,6902,6902,6902,100662,Chondritis,HPO,phenotype,PHENOTYPE_6902
6903,6903,6903,6903,6903,6903,6903,6903,3612,Positive ferric chloride test,HPO,phenotype,PHENOTYPE_6903
6904,6904,6904,6904,6904,6904,6904,6904,11545,Abnormal connection of the cardiac segments,HPO,phenotype,PHENOTYPE_6904
6905,6905,6905,6905,6905,6905,6905,6905,9892,Anotia,HPO,phenotype,PHENOTYPE_6905
6906,6906,6906,6906,6906,6906,6906,6906,10859,Frank breech presentation,HPO,phenotype,PHENOTYPE_6906
6907,6907,6907,6907,6907,6907,6907,6907,100392,Short middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_6907
6908,6908,6908,6908,6908,6908,6908,6908,273,Facial grimacing,HPO,phenotype,PHENOTYPE_6908
6909,6909,6909,6909,6909,6909,6909,6909,30178,Abnormality of central nervous system electrophysiology,HPO,phenotype,PHENOTYPE_6909
6910,6910,6910,6910,6910,6910,6910,6910,997,Axillary freckling,HPO,phenotype,PHENOTYPE_6910
6911,6911,6911,6911,6911,6911,6911,6911,6001026,Reduced epidermal collagen IV alpha 5 chain staining,HPO,phenotype,PHENOTYPE_6911
6912,6912,6912,6912,6912,6912,6912,6912,32193,Decreased low-density lipoprotein particle size,HPO,phenotype,PHENOTYPE_6912
6913,6913,6913,6913,6913,6913,6913,6913,10553,Oculogyric crisis,HPO,phenotype,PHENOTYPE_6913
6914,6914,6914,6914,6914,6914,6914,6914,31550,Abnormal flow cytometry test result,HPO,phenotype,PHENOTYPE_6914
6915,6915,6915,6915,6915,6915,6915,6915,100036,Pseudo-fractures,HPO,phenotype,PHENOTYPE_6915
6916,6916,6916,6916,6916,6916,6916,6916,11231,Prominent eyelashes,HPO,phenotype,PHENOTYPE_6916
6917,6917,6917,6917,6917,6917,6917,6917,31713,Constant exotropia,HPO,phenotype,PHENOTYPE_6917
6918,6918,6918,6918,6918,6918,6918,6918,30936,Abnormal layering of muscularis propria,HPO,phenotype,PHENOTYPE_6918
6919,6919,6919,6919,6919,6919,6919,6919,12338,Abnormal energy expenditure,HPO,phenotype,PHENOTYPE_6919
6920,6920,6920,6920,6920,6920,6920,6920,25353,Anti-multiple nuclear dots antibody positivity,HPO,phenotype,PHENOTYPE_6920
6921,6921,6921,6921,6921,6921,6921,6921,30055,Hyperconvex toenail,HPO,phenotype,PHENOTYPE_6921
6922,6922,6922,6922,6922,6922,6922,6922,10860,Complete breech presentation,HPO,phenotype,PHENOTYPE_6922
6923,6923,6923,6923,6923,6923,6923,6923,34097,Anti-phosphatidyl choline antibody positivity,HPO,phenotype,PHENOTYPE_6923
6924,6924,6924,6924,6924,6924,6924,6924,6000871,Popcorn calcification,HPO,phenotype,PHENOTYPE_6924
6925,6925,6925,6925,6925,6925,6925,6925,6511,Laryngeal stridor,HPO,phenotype,PHENOTYPE_6925
6926,6926,6926,6926,6926,6926,6926,6926,10944,Abnormal renal pelvis morphology,HPO,phenotype,PHENOTYPE_6926
6927,6927,6927,6927,6927,6927,6927,6927,4051,Advanced ossification of the hand bones,HPO,phenotype,PHENOTYPE_6927
6928,6928,6928,6928,6928,6928,6928,6928,30528,Paracentral scotoma,HPO,phenotype,PHENOTYPE_6928
6929,6929,6929,6929,6929,6929,6929,6929,31157,Carotid cavernous fistula,HPO,phenotype,PHENOTYPE_6929
6930,6930,6930,6930,6930,6930,6930,6930,12869,Acephalic spermatozoa,HPO,phenotype,PHENOTYPE_6930
6931,6931,6931,6931,6931,6931,6931,6931,2522,Areflexia of lower limbs,HPO,phenotype,PHENOTYPE_6931
6932,6932,6932,6932,6932,6932,6932,6932,12399,Pressure ulcer,HPO,phenotype,PHENOTYPE_6932
6933,6933,6933,6933,6933,6933,6933,6933,11850,Parotitis,HPO,phenotype,PHENOTYPE_6933
6934,6934,6934,6934,6934,6934,6934,6934,11964,Intermittent painful muscle spasms,HPO,phenotype,PHENOTYPE_6934
6935,6935,6935,6935,6935,6935,6935,6935,100288,EMG: myokymic discharges,HPO,phenotype,PHENOTYPE_6935
6936,6936,6936,6936,6936,6936,6936,6936,410234,Increased anti-parasite IgE antibody level,HPO,phenotype,PHENOTYPE_6936
6937,6937,6937,6937,6937,6937,6937,6937,33487,Glomerular basement membranes powdery deposit,HPO,phenotype,PHENOTYPE_6937
6938,6938,6938,6938,6938,6938,6938,6938,4661,Frontalis muscle weakness,HPO,phenotype,PHENOTYPE_6938
6939,6939,6939,6939,6939,6939,6939,6939,6000277,Elevated CSF beta-alanine concentration,HPO,phenotype,PHENOTYPE_6939
6940,6940,6940,6940,6940,6940,6940,6940,32564,Ileitis,HPO,phenotype,PHENOTYPE_6940
6941,6941,6941,6941,6941,6941,6941,6941,33332,Elevated circulating amyloid A concentration,HPO,phenotype,PHENOTYPE_6941
6942,6942,6942,6942,6942,6942,6942,6942,5894,Double first metacarpals,HPO,phenotype,PHENOTYPE_6942
6943,6943,6943,6943,6943,6943,6943,6943,3584,Late onset,HPO,phenotype,PHENOTYPE_6943
6944,6944,6944,6944,6944,6944,6944,6944,33359,Hyperosthenuria,HPO,phenotype,PHENOTYPE_6944
6945,6945,6945,6945,6945,6945,6945,6945,11188,Focal EEG discharges with secondary generalization,HPO,phenotype,PHENOTYPE_6945
6946,6946,6946,6946,6946,6946,6946,6946,12661,Hypothalamic hypometabolism in FDG PET,HPO,phenotype,PHENOTYPE_6946
6947,6947,6947,6947,6947,6947,6947,6947,31344,Pelvic arteriovenous malformation,HPO,phenotype,PHENOTYPE_6947
6948,6948,6948,6948,6948,6948,6948,6948,5676,Rudimentary postaxial polydactyly of hands,HPO,phenotype,PHENOTYPE_6948
6949,6949,6949,6949,6949,6949,6949,6949,8716,Urethrovaginal fistula,HPO,phenotype,PHENOTYPE_6949
6950,6950,6950,6950,6950,6950,6950,6950,25062,Geophagia,HPO,phenotype,PHENOTYPE_6950
6951,6951,6951,6951,6951,6951,6951,6951,34222,Temporal lobe dysplasia,HPO,phenotype,PHENOTYPE_6951
6952,6952,6952,6952,6952,6952,6952,6952,40069,Abnormal lower limb bone morphology,HPO,phenotype,PHENOTYPE_6952
6953,6953,6953,6953,6953,6953,6953,6953,6000328,Absent zona pellucida,HPO,phenotype,PHENOTYPE_6953
6954,6954,6954,6954,6954,6954,6954,6954,11542,Criss-cross atrioventricular valves with superior-inferior ventricles,HPO,phenotype,PHENOTYPE_6954
6955,6955,6955,6955,6955,6955,6955,6955,41199,Fractured interphalangeal joint,HPO,phenotype,PHENOTYPE_6955
6956,6956,6956,6956,6956,6956,6956,6956,549,Abnormal conjugate eye movement,HPO,phenotype,PHENOTYPE_6956
6957,6957,6957,6957,6957,6957,6957,6957,32199,Abnormal prothrombin time,HPO,phenotype,PHENOTYPE_6957
6958,6958,6958,6958,6958,6958,6958,6958,11663,Right ventricular cardiomyopathy,HPO,phenotype,PHENOTYPE_6958
6959,6959,6959,6959,6959,6959,6959,6959,6000370,Ductus venosus agenesis with extrahepatic drainage and liver bypass,HPO,phenotype,PHENOTYPE_6959
6960,6960,6960,6960,6960,6960,6960,6960,12873,Absent vas deferens,HPO,phenotype,PHENOTYPE_6960
6961,6961,6961,6961,6961,6961,6961,6961,9782,Aplasia/Hypoplasia of the biceps,HPO,phenotype,PHENOTYPE_6961
6962,6962,6962,6962,6962,6962,6962,6962,6000142,Fecolith,HPO,phenotype,PHENOTYPE_6962
6963,6963,6963,6963,6963,6963,6963,6963,100904,Sclerosis of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_6963
6964,6964,6964,6964,6964,6964,6964,6964,5565,Reduced renal corticomedullary differentiation,HPO,phenotype,PHENOTYPE_6964
6965,6965,6965,6965,6965,6965,6965,6965,12344,Morphea,HPO,phenotype,PHENOTYPE_6965
6966,6966,6966,6966,6966,6966,6966,6966,5200068,Socially inappropriate questioning,HPO,phenotype,PHENOTYPE_6966
6967,6967,6967,6967,6967,6967,6967,6967,12637,Renal calcium wasting,HPO,phenotype,PHENOTYPE_6967
6968,6968,6968,6968,6968,6968,6968,6968,9016,Upper limb muscle hypoplasia,HPO,phenotype,PHENOTYPE_6968
6969,6969,6969,6969,6969,6969,6969,6969,3910,Enlarged humeral metaphyses,HPO,phenotype,PHENOTYPE_6969
6970,6970,6970,6970,6970,6970,6970,6970,30771,Mallet finger,HPO,phenotype,PHENOTYPE_6970
6971,6971,6971,6971,6971,6971,6971,6971,2884,Hepatoblastoma,HPO,phenotype,PHENOTYPE_6971
6972,6972,6972,6972,6972,6972,6972,6972,40235,Leukocyte inclusion bodies,HPO,phenotype,PHENOTYPE_6972
6973,6973,6973,6973,6973,6973,6973,6973,34484,Spinal cord calcifications,HPO,phenotype,PHENOTYPE_6973
6974,6974,6974,6974,6974,6974,6974,6974,33293,Glomerular hyaline pseudothrombus,HPO,phenotype,PHENOTYPE_6974
6975,6975,6975,6975,6975,6975,6975,6975,10779,Large pelvis bone,HPO,phenotype,PHENOTYPE_6975
6976,6976,6976,6976,6976,6976,6976,6976,10809,Broad uvula,HPO,phenotype,PHENOTYPE_6976
6977,6977,6977,6977,6977,6977,6977,6977,3042,Elbow dislocation,HPO,phenotype,PHENOTYPE_6977
6978,6978,6978,6978,6978,6978,6978,6978,11296,EEG with temporal sharp waves,HPO,phenotype,PHENOTYPE_6978
6979,6979,6979,6979,6979,6979,6979,6979,322,Short philtrum,HPO,phenotype,PHENOTYPE_6979
6980,6980,6980,6980,6980,6980,6980,6980,8261,Pancreatic islet cell adenoma,HPO,phenotype,PHENOTYPE_6980
6981,6981,6981,6981,6981,6981,6981,6981,6000747,Abnormal urinary creatine level,HPO,phenotype,PHENOTYPE_6981
6982,6982,6982,6982,6982,6982,6982,6982,31073,Abnormal response to endocrine stimulation test,HPO,phenotype,PHENOTYPE_6982
6983,6983,6983,6983,6983,6983,6983,6983,4970,Ascending tubular aorta aneurysm,HPO,phenotype,PHENOTYPE_6983
6984,6984,6984,6984,6984,6984,6984,6984,12176,Abnormal natural killer cell morphology,HPO,phenotype,PHENOTYPE_6984
6985,6985,6985,6985,6985,6985,6985,6985,8394,Congenital onychodystrophy,HPO,phenotype,PHENOTYPE_6985
6986,6986,6986,6986,6986,6986,6986,6986,7351,Upper limb postural tremor,HPO,phenotype,PHENOTYPE_6986
6987,6987,6987,6987,6987,6987,6987,6987,9998,Complete duplication of phalanx of hand,HPO,phenotype,PHENOTYPE_6987
6988,6988,6988,6988,6988,6988,6988,6988,32057,Focal cortical dysplasia type IIIc,HPO,phenotype,PHENOTYPE_6988
6989,6989,6989,6989,6989,6989,6989,6989,32952,Usual-type tubular atrophy,HPO,phenotype,PHENOTYPE_6989
6990,6990,6990,6990,6990,6990,6990,6990,33392,Perivascular pre-capillary pulmonary artery inflammation,HPO,phenotype,PHENOTYPE_6990
6991,6991,6991,6991,6991,6991,6991,6991,228,Oral cavity telangiectasia,HPO,phenotype,PHENOTYPE_6991
6992,6992,6992,6992,6992,6992,6992,6992,32812,Neonatal electro-clinical non-motor seizure,HPO,phenotype,PHENOTYPE_6992
6993,6993,6993,6993,6993,6993,6993,6993,30140,Oral cavity bleeding,HPO,phenotype,PHENOTYPE_6993
6994,6994,6994,6994,6994,6994,6994,6994,30538,Unaided visual acuity 0.3 LogMAR,HPO,phenotype,PHENOTYPE_6994
6995,6995,6995,6995,6995,6995,6995,6995,500213,Decreased CSF threonine concentration,HPO,phenotype,PHENOTYPE_6995
6996,6996,6996,6996,6996,6996,6996,6996,5200232,Phobia,HPO,phenotype,PHENOTYPE_6996
6997,6997,6997,6997,6997,6997,6997,6997,11104,Abnormality of blood volume homeostasis,HPO,phenotype,PHENOTYPE_6997
6998,6998,6998,6998,6998,6998,6998,6998,33377,Increased airway neuroendocrine cells,HPO,phenotype,PHENOTYPE_6998
6999,6999,6999,6999,6999,6999,6999,6999,100140,Irregular epiphysis of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_6999
7000,7000,7000,7000,7000,7000,7000,7000,10147,Stippling of the epiphysis of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_7000
7001,7001,7001,7001,7001,7001,7001,7001,11028,Abnormality of blood circulation,HPO,phenotype,PHENOTYPE_7001
7002,7002,7002,7002,7002,7002,7002,7002,12654,Abnormal CSF dopamine concentration,HPO,phenotype,PHENOTYPE_7002
7003,7003,7003,7003,7003,7003,7003,7003,32459,Abnormal phosphoribosylpyrophosphate synthetase level,HPO,phenotype,PHENOTYPE_7003
7004,7004,7004,7004,7004,7004,7004,7004,31224,Diffuse pancreatic islet hyperplasia,HPO,phenotype,PHENOTYPE_7004
7005,7005,7005,7005,7005,7005,7005,7005,410212,Hyperoxemia in cord blood,HPO,phenotype,PHENOTYPE_7005
7006,7006,7006,7006,7006,7006,7006,7006,5201004,Incomplete cleft hard palate,HPO,phenotype,PHENOTYPE_7006
7007,7007,7007,7007,7007,7007,7007,7007,4488,Macrocephaly at birth,HPO,phenotype,PHENOTYPE_7007
7008,7008,7008,7008,7008,7008,7008,7008,100615,Ovarian neoplasm,HPO,phenotype,PHENOTYPE_7008
7009,7009,7009,7009,7009,7009,7009,7009,2501,Spasticity of pharyngeal muscles,HPO,phenotype,PHENOTYPE_7009
7010,7010,7010,7010,7010,7010,7010,7010,31646,Fusiform aortic arch aneurysm,HPO,phenotype,PHENOTYPE_7010
7011,7011,7011,7011,7011,7011,7011,7011,4373,Focal dystonia,HPO,phenotype,PHENOTYPE_7011
7012,7012,7012,7012,7012,7012,7012,7012,1849,Foot oligodactyly,HPO,phenotype,PHENOTYPE_7012
7013,7013,7013,7013,7013,7013,7013,7013,33786,Hypomature enamel,HPO,phenotype,PHENOTYPE_7013
7014,7014,7014,7014,7014,7014,7014,7014,2102,Pleuritis,HPO,phenotype,PHENOTYPE_7014
7015,7015,7015,7015,7015,7015,7015,7015,9909,Uplifted earlobe,HPO,phenotype,PHENOTYPE_7015
7016,7016,7016,7016,7016,7016,7016,7016,6454,Delayed patellar ossification,HPO,phenotype,PHENOTYPE_7016
7017,7017,7017,7017,7017,7017,7017,7017,10249,Enlarged epiphyses of the distal phalanges of the hand,HPO,phenotype,PHENOTYPE_7017
7018,7018,7018,7018,7018,7018,7018,7018,11664,Left ventricular noncompaction cardiomyopathy,HPO,phenotype,PHENOTYPE_7018
7019,7019,7019,7019,7019,7019,7019,7019,25632,Reduced reactive oxygen species production in neutrophils,HPO,phenotype,PHENOTYPE_7019
7020,7020,7020,7020,7020,7020,7020,7020,40068,Abnormality of limb bone,HPO,phenotype,PHENOTYPE_7020
7021,7021,7021,7021,7021,7021,7021,7021,10440,Ectopic accessory toe-like appendage,HPO,phenotype,PHENOTYPE_7021
7022,7022,7022,7022,7022,7022,7022,7022,6367,Crumpled long bones,HPO,phenotype,PHENOTYPE_7022
7023,7023,7023,7023,7023,7023,7023,7023,4324,Increased body weight,HPO,phenotype,PHENOTYPE_7023
7024,7024,7024,7024,7024,7024,7024,7024,6463,Rickets of the lower limbs,HPO,phenotype,PHENOTYPE_7024
7025,7025,7025,7025,7025,7025,7025,7025,10408,Osteolytic defects of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_7025
7026,7026,7026,7026,7026,7026,7026,7026,11825,Tented philtrum,HPO,phenotype,PHENOTYPE_7026
7027,7027,7027,7027,7027,7027,7027,7027,34046,Mandibular osteolysis,HPO,phenotype,PHENOTYPE_7027
7028,7028,7028,7028,7028,7028,7028,7028,40044,Hypoplasia of the diaphragm,HPO,phenotype,PHENOTYPE_7028
7029,7029,7029,7029,7029,7029,7029,7029,20224,Mammary duct ectasia,HPO,phenotype,PHENOTYPE_7029
7030,7030,7030,7030,7030,7030,7030,7030,30044,Flexion contracture of digit,HPO,phenotype,PHENOTYPE_7030
7031,7031,7031,7031,7031,7031,7031,7031,11248,Everted antitragus,HPO,phenotype,PHENOTYPE_7031
7032,7032,7032,7032,7032,7032,7032,7032,33321,Glomerular obsolescence,HPO,phenotype,PHENOTYPE_7032
7033,7033,7033,7033,7033,7033,7033,7033,20108,Unusual parasitic infection,HPO,phenotype,PHENOTYPE_7033
7034,7034,7034,7034,7034,7034,7034,7034,34081,Anti-Th/To antibody positivity,HPO,phenotype,PHENOTYPE_7034
7035,7035,7035,7035,7035,7035,7035,7035,11371,Recurrent viral skin infections,HPO,phenotype,PHENOTYPE_7035
7036,7036,7036,7036,7036,7036,7036,7036,25075,Increased QRS voltage,HPO,phenotype,PHENOTYPE_7036
7037,7037,7037,7037,7037,7037,7037,7037,1480,Freckling,HPO,phenotype,PHENOTYPE_7037
7038,7038,7038,7038,7038,7038,7038,7038,706,Eruption failure,HPO,phenotype,PHENOTYPE_7038
7039,7039,7039,7039,7039,7039,7039,7039,32090,Intralamellar aortic medial fibrosis,HPO,phenotype,PHENOTYPE_7039
7040,7040,7040,7040,7040,7040,7040,7040,2365,Hypoplasia of the brainstem,HPO,phenotype,PHENOTYPE_7040
7041,7041,7041,7041,7041,7041,7041,7041,33545,Mesangial fibrillary deposits,HPO,phenotype,PHENOTYPE_7041
7042,7042,7042,7042,7042,7042,7042,7042,200057,Marcus Gunn pupil,HPO,phenotype,PHENOTYPE_7042
7043,7043,7043,7043,7043,7043,7043,7043,30410,Sebaceous gland carcinoma,HPO,phenotype,PHENOTYPE_7043
7044,7044,7044,7044,7044,7044,7044,7044,6696,Polymorphic and polytopic ventricular extrasystoles,HPO,phenotype,PHENOTYPE_7044
7045,7045,7045,7045,7045,7045,7045,7045,25680,Compound muscle action potential amplitude facilitation,HPO,phenotype,PHENOTYPE_7045
7046,7046,7046,7046,7046,7046,7046,7046,500259,Abnormal oxygen level in cord blood,HPO,phenotype,PHENOTYPE_7046
7047,7047,7047,7047,7047,7047,7047,7047,5956,Anteroposteriorly shortened larynx,HPO,phenotype,PHENOTYPE_7047
7048,7048,7048,7048,7048,7048,7048,7048,12651,Abasia,HPO,phenotype,PHENOTYPE_7048
7049,7049,7049,7049,7049,7049,7049,7049,34539,Ameliorated by dantrolene,HPO,phenotype,PHENOTYPE_7049
7050,7050,7050,7050,7050,7050,7050,7050,410176,Abnormal circulating glucose-6-phosphate dehydrogenase concentration,HPO,phenotype,PHENOTYPE_7050
7051,7051,7051,7051,7051,7051,7051,7051,4616,Cleft vertebral arch,HPO,phenotype,PHENOTYPE_7051
7052,7052,7052,7052,7052,7052,7052,7052,11514,Abnormality of binocular vision,HPO,phenotype,PHENOTYPE_7052
7053,7053,7053,7053,7053,7053,7053,7053,2764,Stippled chondral calcification,HPO,phenotype,PHENOTYPE_7053
7054,7054,7054,7054,7054,7054,7054,7054,25720,Limited horizontal extraocular movement,HPO,phenotype,PHENOTYPE_7054
7055,7055,7055,7055,7055,7055,7055,7055,31574,Orbital cleft,HPO,phenotype,PHENOTYPE_7055
7056,7056,7056,7056,7056,7056,7056,7056,9120,Aplasia/Hypoplasia involving the sinuses,HPO,phenotype,PHENOTYPE_7056
7057,7057,7057,7057,7057,7057,7057,7057,33855,Abnormal interlobular vein lumen morphology,HPO,phenotype,PHENOTYPE_7057
7058,7058,7058,7058,7058,7058,7058,7058,33561,Anti-bactericidal/permeability-increasing protein antibody positivity,HPO,phenotype,PHENOTYPE_7058
7059,7059,7059,7059,7059,7059,7059,7059,100788,Fused lips,HPO,phenotype,PHENOTYPE_7059
7060,7060,7060,7060,7060,7060,7060,7060,8609,Abnormal middle ear morphology,HPO,phenotype,PHENOTYPE_7060
7061,7061,7061,7061,7061,7061,7061,7061,410033,Unilateral alveolar cleft of maxilla,HPO,phenotype,PHENOTYPE_7061
7062,7062,7062,7062,7062,7062,7062,7062,1073,Cigarette-paper scars,HPO,phenotype,PHENOTYPE_7062
7063,7063,7063,7063,7063,7063,7063,7063,6001187,Reduced circulating progranulin concentration,HPO,phenotype,PHENOTYPE_7063
7064,7064,7064,7064,7064,7064,7064,7064,200108,Shortened outer dynein arms,HPO,phenotype,PHENOTYPE_7064
7065,7065,7065,7065,7065,7065,7065,7065,10550,Paraplegia,HPO,phenotype,PHENOTYPE_7065
7066,7066,7066,7066,7066,7066,7066,7066,25147,Beaten bronze macular sheen,HPO,phenotype,PHENOTYPE_7066
7067,7067,7067,7067,7067,7067,7067,7067,100928,Sclerosis of 4th toe phalanx,HPO,phenotype,PHENOTYPE_7067
7068,7068,7068,7068,7068,7068,7068,7068,11583,Cervical ectopia cordis,HPO,phenotype,PHENOTYPE_7068
7069,7069,7069,7069,7069,7069,7069,7069,5200038,Bradylalia,HPO,phenotype,PHENOTYPE_7069
7070,7070,7070,7070,7070,7070,7070,7070,4487,Acrobrachycephaly,HPO,phenotype,PHENOTYPE_7070
7071,7071,7071,7071,7071,7071,7071,7071,5178,Complete heart block with narrow QRS complexes,HPO,phenotype,PHENOTYPE_7071
7072,7072,7072,7072,7072,7072,7072,7072,4977,Bilateral radial aplasia,HPO,phenotype,PHENOTYPE_7072
7073,7073,7073,7073,7073,7073,7073,7073,7476,Anhidrotic ectodermal dysplasia,HPO,phenotype,PHENOTYPE_7073
7074,7074,7074,7074,7074,7074,7074,7074,12333,Abnormal sudomotor regulation,HPO,phenotype,PHENOTYPE_7074
7075,7075,7075,7075,7075,7075,7075,7075,32008,Pulmonary fat embolism,HPO,phenotype,PHENOTYPE_7075
7076,7076,7076,7076,7076,7076,7076,7076,9221,Pseudoepiphysis of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_7076
7077,7077,7077,7077,7077,7077,7077,7077,40274,Adenocarcinoma of the small intestine,HPO,phenotype,PHENOTYPE_7077
7078,7078,7078,7078,7078,7078,7078,7078,33771,Pleuritic chest pain,HPO,phenotype,PHENOTYPE_7078
7079,7079,7079,7079,7079,7079,7079,7079,25705,Abnormal fetal nasal bone visualization,HPO,phenotype,PHENOTYPE_7079
7080,7080,7080,7080,7080,7080,7080,7080,30709,Myelocystocele,HPO,phenotype,PHENOTYPE_7080
7081,7081,7081,7081,7081,7081,7081,7081,25492,Microcoria,HPO,phenotype,PHENOTYPE_7081
7082,7082,7082,7082,7082,7082,7082,7082,33167,Neutrophilic urticarial dermatosis,HPO,phenotype,PHENOTYPE_7082
7083,7083,7083,7083,7083,7083,7083,7083,12088,Abnormal urinary odor,HPO,phenotype,PHENOTYPE_7083
7084,7084,7084,7084,7084,7084,7084,7084,32181,Anomalous hepatic venous drainage into the left atrium,HPO,phenotype,PHENOTYPE_7084
7085,7085,7085,7085,7085,7085,7085,7085,12380,Reduced tissue carnitine O-palmitoyltransferase 2 activity,HPO,phenotype,PHENOTYPE_7085
7086,7086,7086,7086,7086,7086,7086,7086,2154,Hyperglycinemia,HPO,phenotype,PHENOTYPE_7086
7087,7087,7087,7087,7087,7087,7087,7087,2920,Decreased circulating ACTH concentration,HPO,phenotype,PHENOTYPE_7087
7088,7088,7088,7088,7088,7088,7088,7088,7183,Focal T2 hyperintense basal ganglia lesion,HPO,phenotype,PHENOTYPE_7088
7089,7089,7089,7089,7089,7089,7089,7089,9576,Absent middle phalanx of 2nd finger,HPO,phenotype,PHENOTYPE_7089
7090,7090,7090,7090,7090,7090,7090,7090,10772,Anomalous pulmonary venous return,HPO,phenotype,PHENOTYPE_7090
7091,7091,7091,7091,7091,7091,7091,7091,32745,Focal aware emotional seizure with laughing,HPO,phenotype,PHENOTYPE_7091
7092,7092,7092,7092,7092,7092,7092,7092,40154,Acne inversa,HPO,phenotype,PHENOTYPE_7092
7093,7093,7093,7093,7093,7093,7093,7093,12166,Skin-picking,HPO,phenotype,PHENOTYPE_7093
7094,7094,7094,7094,7094,7094,7094,7094,5951,Progressive inspiratory stridor,HPO,phenotype,PHENOTYPE_7094
7095,7095,7095,7095,7095,7095,7095,7095,10641,Abnormality of the midnasal cavity,HPO,phenotype,PHENOTYPE_7095
7096,7096,7096,7096,7096,7096,7096,7096,2017,Nausea and vomiting,HPO,phenotype,PHENOTYPE_7096
7097,7097,7097,7097,7097,7097,7097,7097,9524,Absent epiphysis of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_7097
7098,7098,7098,7098,7098,7098,7098,7098,6460,Increased laxity of ankles,HPO,phenotype,PHENOTYPE_7098
7099,7099,7099,7099,7099,7099,7099,7099,6000807,Cervical C6/C7 vertebrae fusion,HPO,phenotype,PHENOTYPE_7099
7100,7100,7100,7100,7100,7100,7100,7100,6001193,Conjunctival xerosis,HPO,phenotype,PHENOTYPE_7100
7101,7101,7101,7101,7101,7101,7101,7101,31063,Impaired feeding ability,HPO,phenotype,PHENOTYPE_7101
7102,7102,7102,7102,7102,7102,7102,7102,100372,Aplasia/Hypoplasia of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_7102
7103,7103,7103,7103,7103,7103,7103,7103,34971,Peritoneal mass,HPO,phenotype,PHENOTYPE_7103
7104,7104,7104,7104,7104,7104,7104,7104,12002,Experiential epileptic aura,HPO,phenotype,PHENOTYPE_7104
7105,7105,7105,7105,7105,7105,7105,7105,6001078,Malignant pleural effusion,HPO,phenotype,PHENOTYPE_7105
7106,7106,7106,7106,7106,7106,7106,7106,100287,EMG: slow motor conduction,HPO,phenotype,PHENOTYPE_7106
7107,7107,7107,7107,7107,7107,7107,7107,34573,Abnormal epidermal protein expression,HPO,phenotype,PHENOTYPE_7107
7108,7108,7108,7108,7108,7108,7108,7108,6000978,Nonrimmed muscle vacuoles,HPO,phenotype,PHENOTYPE_7108
7109,7109,7109,7109,7109,7109,7109,7109,40089,Abnormal natural killer cell count,HPO,phenotype,PHENOTYPE_7109
7110,7110,7110,7110,7110,7110,7110,7110,12243,Abnormal reproductive system morphology,HPO,phenotype,PHENOTYPE_7110
7111,7111,7111,7111,7111,7111,7111,7111,8432,Anterior wedging of L1,HPO,phenotype,PHENOTYPE_7111
7112,7112,7112,7112,7112,7112,7112,7112,6059,Cone-shaped metacarpal epiphyses,HPO,phenotype,PHENOTYPE_7112
7113,7113,7113,7113,7113,7113,7113,7113,5200271,Hopelessness,HPO,phenotype,PHENOTYPE_7113
7114,7114,7114,7114,7114,7114,7114,7114,11660,Anomalous origin of one pulmonary artery from ascending aorta,HPO,phenotype,PHENOTYPE_7114
7115,7115,7115,7115,7115,7115,7115,7115,4771,Premature graying of body hair,HPO,phenotype,PHENOTYPE_7115
7116,7116,7116,7116,7116,7116,7116,7116,32538,Pretibial dimple,HPO,phenotype,PHENOTYPE_7116
7117,7117,7117,7117,7117,7117,7117,7117,200105,Absent fifth toenail,HPO,phenotype,PHENOTYPE_7117
7118,7118,7118,7118,7118,7118,7118,7118,5701,Multiple enchondromatosis,HPO,phenotype,PHENOTYPE_7118
7119,7119,7119,7119,7119,7119,7119,7119,12365,Hypophosphaturia,HPO,phenotype,PHENOTYPE_7119
7120,7120,7120,7120,7120,7120,7120,7120,6000294,Difficulty passing nasogastric tube,HPO,phenotype,PHENOTYPE_7120
7121,7121,7121,7121,7121,7121,7121,7121,8821,Hypoplastic inferior ilia,HPO,phenotype,PHENOTYPE_7121
7122,7122,7122,7122,7122,7122,7122,7122,5439,Maxillozygomatic hypoplasia,HPO,phenotype,PHENOTYPE_7122
7123,7123,7123,7123,7123,7123,7123,7123,12130,Abnormal erythroid lineage cell morphology,HPO,phenotype,PHENOTYPE_7123
7124,7124,7124,7124,7124,7124,7124,7124,33235,Difficulty descending stairs,HPO,phenotype,PHENOTYPE_7124
7125,7125,7125,7125,7125,7125,7125,7125,33375,Anthracosis,HPO,phenotype,PHENOTYPE_7125
7126,7126,7126,7126,7126,7126,7126,7126,10551,Paraplegia/paraparesis,HPO,phenotype,PHENOTYPE_7126
7127,7127,7127,7127,7127,7127,7127,7127,31845,Abnormal libido,HPO,phenotype,PHENOTYPE_7127
7128,7128,7128,7128,7128,7128,7128,7128,1031,Subcutaneous lipoma,HPO,phenotype,PHENOTYPE_7128
7129,7129,7129,7129,7129,7129,7129,7129,11041,Aplasia/Hypoplasia of the cervical spine,HPO,phenotype,PHENOTYPE_7129
7130,7130,7130,7130,7130,7130,7130,7130,12221,Pretibial blistering,HPO,phenotype,PHENOTYPE_7130
7131,7131,7131,7131,7131,7131,7131,7131,30591,Abnormal kinetic perimetry test,HPO,phenotype,PHENOTYPE_7131
7132,7132,7132,7132,7132,7132,7132,7132,6000298,Snapping sensation at metacarpophalangeal joint,HPO,phenotype,PHENOTYPE_7132
7133,7133,7133,7133,7133,7133,7133,7133,31106,T-shaped uterus,HPO,phenotype,PHENOTYPE_7133
7134,7134,7134,7134,7134,7134,7134,7134,30314,Periostosis,HPO,phenotype,PHENOTYPE_7134
7135,7135,7135,7135,7135,7135,7135,7135,2882,Sudden episodic apnea,HPO,phenotype,PHENOTYPE_7135
7136,7136,7136,7136,7136,7136,7136,7136,500058,Retinopathy of prematurity stage 5b,HPO,phenotype,PHENOTYPE_7136
7137,7137,7137,7137,7137,7137,7137,7137,452,Choanal stenosis,HPO,phenotype,PHENOTYPE_7137
7138,7138,7138,7138,7138,7138,7138,7138,7759,Opacification of the corneal stroma,HPO,phenotype,PHENOTYPE_7138
7139,7139,7139,7139,7139,7139,7139,7139,3292,Decreased serum leptin,HPO,phenotype,PHENOTYPE_7139
7140,7140,7140,7140,7140,7140,7140,7140,30375,Increased proportion of memory B cells,HPO,phenotype,PHENOTYPE_7140
7141,7141,7141,7141,7141,7141,7141,7141,30185,Isometric tremor,HPO,phenotype,PHENOTYPE_7141
7142,7142,7142,7142,7142,7142,7142,7142,34858,Abnormal leukocyte enzyme concentration or activity,HPO,phenotype,PHENOTYPE_7142
7143,7143,7143,7143,7143,7143,7143,7143,33984,"Increased urinary 8-oxo-7,8-dihydroguanosine level",HPO,phenotype,PHENOTYPE_7143
7144,7144,7144,7144,7144,7144,7144,7144,410328,Egg allergy,HPO,phenotype,PHENOTYPE_7144
7145,7145,7145,7145,7145,7145,7145,7145,430115,Cervical hypoplasia,HPO,phenotype,PHENOTYPE_7145
7146,7146,7146,7146,7146,7146,7146,7146,3070,Elbow ankylosis,HPO,phenotype,PHENOTYPE_7146
7147,7147,7147,7147,7147,7147,7147,7147,10180,Triangular shaped phalanges of the toes,HPO,phenotype,PHENOTYPE_7147
7148,7148,7148,7148,7148,7148,7148,7148,32406,Unilateral perisylvian polymicrogyria,HPO,phenotype,PHENOTYPE_7148
7149,7149,7149,7149,7149,7149,7149,7149,31273,Shock,HPO,phenotype,PHENOTYPE_7149
7150,7150,7150,7150,7150,7150,7150,7150,25400,Nodular-random pattern on pulmonary HRCT,HPO,phenotype,PHENOTYPE_7150
7151,7151,7151,7151,7151,7151,7151,7151,33521,Nasal dryness,HPO,phenotype,PHENOTYPE_7151
7152,7152,7152,7152,7152,7152,7152,7152,3000061,Abnormality of infra-orbital nerve,HPO,phenotype,PHENOTYPE_7152
7153,7153,7153,7153,7153,7153,7153,7153,33322,Glomerular capillary wall duplication without cellular interposition,HPO,phenotype,PHENOTYPE_7153
7154,7154,7154,7154,7154,7154,7154,7154,11690,Permanent junctional reciprocating tachycardia,HPO,phenotype,PHENOTYPE_7154
7155,7155,7155,7155,7155,7155,7155,7155,11485,Corneolenticular adhesion,HPO,phenotype,PHENOTYPE_7155
7156,7156,7156,7156,7156,7156,7156,7156,1421,Abnormality of the musculature of the hand,HPO,phenotype,PHENOTYPE_7156
7157,7157,7157,7157,7157,7157,7157,7157,1093,Optic nerve dysplasia,HPO,phenotype,PHENOTYPE_7157
7158,7158,7158,7158,7158,7158,7158,7158,32623,Renal intratubular casts,HPO,phenotype,PHENOTYPE_7158
7159,7159,7159,7159,7159,7159,7159,7159,31509,Dry nipple,HPO,phenotype,PHENOTYPE_7159
7160,7160,7160,7160,7160,7160,7160,7160,25461,Abnormal cell morphology,HPO,phenotype,PHENOTYPE_7160
7161,7161,7161,7161,7161,7161,7161,7161,33087,Quotidian fever,HPO,phenotype,PHENOTYPE_7161
7162,7162,7162,7162,7162,7162,7162,7162,4197,Symphalangism of the 4th finger,HPO,phenotype,PHENOTYPE_7162
7163,7163,7163,7163,7163,7163,7163,7163,33926,Renal arteriole intimal/medial multilamellation,HPO,phenotype,PHENOTYPE_7163
7164,7164,7164,7164,7164,7164,7164,7164,6000262,Pseudoglioma,HPO,phenotype,PHENOTYPE_7164
7165,7165,7165,7165,7165,7165,7165,7165,12838,Localized,HPO,phenotype,PHENOTYPE_7165
7166,7166,7166,7166,7166,7166,7166,7166,3866,Coarse humeral trabeculae,HPO,phenotype,PHENOTYPE_7166
7167,7167,7167,7167,7167,7167,7167,7167,100515,Pollakisuria,HPO,phenotype,PHENOTYPE_7167
7168,7168,7168,7168,7168,7168,7168,7168,6456,Irregular proximal tibial epiphyses,HPO,phenotype,PHENOTYPE_7168
7169,7169,7169,7169,7169,7169,7169,7169,7456,Progressive reticulate hyperpigmentation,HPO,phenotype,PHENOTYPE_7169
7170,7170,7170,7170,7170,7170,7170,7170,9537,Flexion contracture of the 2nd finger,HPO,phenotype,PHENOTYPE_7170
7171,7171,7171,7171,7171,7171,7171,7171,9928,Thick nasal alae,HPO,phenotype,PHENOTYPE_7171
7172,7172,7172,7172,7172,7172,7172,7172,7596,Painful subcutaneous lipomas,HPO,phenotype,PHENOTYPE_7172
7173,7173,7173,7173,7173,7173,7173,7173,410213,Hypoxemia in cord blood,HPO,phenotype,PHENOTYPE_7173
7174,7174,7174,7174,7174,7174,7174,7174,32740,Focal aware autonomic seizure,HPO,phenotype,PHENOTYPE_7174
7175,7175,7175,7175,7175,7175,7175,7175,100116,Irregular epiphysis of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_7175
7176,7176,7176,7176,7176,7176,7176,7176,100139,Fragmentation of the epiphysis of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_7176
7177,7177,7177,7177,7177,7177,7177,7177,30731,Carcinoma,HPO,phenotype,PHENOTYPE_7177
7178,7178,7178,7178,7178,7178,7178,7178,20295,PAX5 expression,HPO,phenotype,PHENOTYPE_7178
7179,7179,7179,7179,7179,7179,7179,7179,5019,Diaphyseal undertubulation,HPO,phenotype,PHENOTYPE_7179
7180,7180,7180,7180,7180,7180,7180,7180,1604,Vocal cord paresis,HPO,phenotype,PHENOTYPE_7180
7181,7181,7181,7181,7181,7181,7181,7181,3148,Elevated serum acid phosphatase,HPO,phenotype,PHENOTYPE_7181
7182,7182,7182,7182,7182,7182,7182,7182,33542,Bronchial wall thickening,HPO,phenotype,PHENOTYPE_7182
7183,7183,7183,7183,7183,7183,7183,7183,34349,Supravalvar pulmonary stenosis,HPO,phenotype,PHENOTYPE_7183
7184,7184,7184,7184,7184,7184,7184,7184,6628,Absent sternal ossification,HPO,phenotype,PHENOTYPE_7184
7185,7185,7185,7185,7185,7185,7185,7185,7843,Attenuation of retinal blood vessels,HPO,phenotype,PHENOTYPE_7185
7186,7186,7186,7186,7186,7186,7186,7186,100342,Fibular deviation of the 3rd toe,HPO,phenotype,PHENOTYPE_7186
7187,7187,7187,7187,7187,7187,7187,7187,500272,Abnormal proportion of immature gamma-delta T cells,HPO,phenotype,PHENOTYPE_7187
7188,7188,7188,7188,7188,7188,7188,7188,9911,Abnormal temporal bone morphology,HPO,phenotype,PHENOTYPE_7188
7189,7189,7189,7189,7189,7189,7189,7189,31576,Tessier number 4 facial cleft,HPO,phenotype,PHENOTYPE_7189
7190,7190,7190,7190,7190,7190,7190,7190,6000649,Triangular nail,HPO,phenotype,PHENOTYPE_7190
7191,7191,7191,7191,7191,7191,7191,7191,32388,Periventricular nodular heterotopia,HPO,phenotype,PHENOTYPE_7191
7192,7192,7192,7192,7192,7192,7192,7192,31684,Renal artery atherosclerosis,HPO,phenotype,PHENOTYPE_7192
7193,7193,7193,7193,7193,7193,7193,7193,1139,Choroideremia,HPO,phenotype,PHENOTYPE_7193
7194,7194,7194,7194,7194,7194,7194,7194,4000082,Reduced cooperative play,HPO,phenotype,PHENOTYPE_7194
7195,7195,7195,7195,7195,7195,7195,7195,31700,Invasive parasitic infection,HPO,phenotype,PHENOTYPE_7195
7196,7196,7196,7196,7196,7196,7196,7196,4894,Laryngotracheal stenosis,HPO,phenotype,PHENOTYPE_7196
7197,7197,7197,7197,7197,7197,7197,7197,31290,Tuberous xanthoma,HPO,phenotype,PHENOTYPE_7197
7198,7198,7198,7198,7198,7198,7198,7198,33317,Cellular crescent,HPO,phenotype,PHENOTYPE_7198
7199,7199,7199,7199,7199,7199,7199,7199,25065,Abnormal mean corpuscular volume,HPO,phenotype,PHENOTYPE_7199
7200,7200,7200,7200,7200,7200,7200,7200,6160,Irregular metacarpals,HPO,phenotype,PHENOTYPE_7200
7201,7201,7201,7201,7201,7201,7201,7201,33250,Nailfold capillary tortuosity,HPO,phenotype,PHENOTYPE_7201
7202,7202,7202,7202,7202,7202,7202,7202,5200284,Bruxism during sleep,HPO,phenotype,PHENOTYPE_7202
7203,7203,7203,7203,7203,7203,7203,7203,33396,Glomerular extracapillary fibrin,HPO,phenotype,PHENOTYPE_7203
7204,7204,7204,7204,7204,7204,7204,7204,7458,Focal hyperextensible skin,HPO,phenotype,PHENOTYPE_7204
7205,7205,7205,7205,7205,7205,7205,7205,1263,Global developmental delay,HPO,phenotype,PHENOTYPE_7205
7206,7206,7206,7206,7206,7206,7206,7206,34000,Tracheal hemorrhage,HPO,phenotype,PHENOTYPE_7206
7207,7207,7207,7207,7207,7207,7207,7207,1030,Fragile skin,HPO,phenotype,PHENOTYPE_7207
7208,7208,7208,7208,7208,7208,7208,7208,30110,Absent muscle fiber delta sarcoglycan,HPO,phenotype,PHENOTYPE_7208
7209,7209,7209,7209,7209,7209,7209,7209,31734,Lacrimal pump failure,HPO,phenotype,PHENOTYPE_7209
7210,7210,7210,7210,7210,7210,7210,7210,6000281,Elevated urinary gamma-glutamylphenylalanine level,HPO,phenotype,PHENOTYPE_7210
7211,7211,7211,7211,7211,7211,7211,7211,5200044,Reduced attention regulation,HPO,phenotype,PHENOTYPE_7211
7212,7212,7212,7212,7212,7212,7212,7212,1991,Aplasia/Hypoplasia of toe,HPO,phenotype,PHENOTYPE_7212
7213,7213,7213,7213,7213,7213,7213,7213,544,External ophthalmoplegia,HPO,phenotype,PHENOTYPE_7213
7214,7214,7214,7214,7214,7214,7214,7214,34285,Enteroviral encephalitis,HPO,phenotype,PHENOTYPE_7214
7215,7215,7215,7215,7215,7215,7215,7215,11729,Abnormality of joint mobility,HPO,phenotype,PHENOTYPE_7215
7216,7216,7216,7216,7216,7216,7216,7216,2205,Recurrent respiratory infections,HPO,phenotype,PHENOTYPE_7216
7217,7217,7217,7217,7217,7217,7217,7217,33885,Cortical radial artery lumen cholesterol emboli,HPO,phenotype,PHENOTYPE_7217
7218,7218,7218,7218,7218,7218,7218,7218,30248,Mesenteric venous thrombosis,HPO,phenotype,PHENOTYPE_7218
7219,7219,7219,7219,7219,7219,7219,7219,31634,Anomalous origin of the left common carotid artery from the main pulmonary artery,HPO,phenotype,PHENOTYPE_7219
7220,7220,7220,7220,7220,7220,7220,7220,25160,Abnormal temper tantrums,HPO,phenotype,PHENOTYPE_7220
7221,7221,7221,7221,7221,7221,7221,7221,9950,Complete duplication of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_7221
7222,7222,7222,7222,7222,7222,7222,7222,100238,Synostosis involving bones of the upper limbs,HPO,phenotype,PHENOTYPE_7222
7223,7223,7223,7223,7223,7223,7223,7223,30985,Decreased serum bile acid concentration,HPO,phenotype,PHENOTYPE_7223
7224,7224,7224,7224,7224,7224,7224,7224,5326,Hypoplastic philtrum,HPO,phenotype,PHENOTYPE_7224
7225,7225,7225,7225,7225,7225,7225,7225,12370,Prominence of the zygomatic bone,HPO,phenotype,PHENOTYPE_7225
7226,7226,7226,7226,7226,7226,7226,7226,4328,Abnormal anterior eye segment morphology,HPO,phenotype,PHENOTYPE_7226
7227,7227,7227,7227,7227,7227,7227,7227,33303,Elevated urinary monocarboxylic acid level,HPO,phenotype,PHENOTYPE_7227
7228,7228,7228,7228,7228,7228,7228,7228,40220,Abnormal size of the dental root,HPO,phenotype,PHENOTYPE_7228
7229,7229,7229,7229,7229,7229,7229,7229,30052,Inguinal freckling,HPO,phenotype,PHENOTYPE_7229
7230,7230,7230,7230,7230,7230,7230,7230,32063,Ankle joint effusion,HPO,phenotype,PHENOTYPE_7230
7231,7231,7231,7231,7231,7231,7231,7231,30344,Decreased circulating luteinizing hormone level,HPO,phenotype,PHENOTYPE_7231
7232,7232,7232,7232,7232,7232,7232,7232,10358,Abnormal morphology of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_7232
7233,7233,7233,7233,7233,7233,7233,7233,31557,Reduced fibroblast CD55 level,HPO,phenotype,PHENOTYPE_7233
7234,7234,7234,7234,7234,7234,7234,7234,34228,Proximal aortic arch hypoplasia,HPO,phenotype,PHENOTYPE_7234
7235,7235,7235,7235,7235,7235,7235,7235,9882,Short distal phalanx of finger,HPO,phenotype,PHENOTYPE_7235
7236,7236,7236,7236,7236,7236,7236,7236,9815,Aplasia/hypoplasia of the extremities,HPO,phenotype,PHENOTYPE_7236
7237,7237,7237,7237,7237,7237,7237,7237,100851,Abnormal emotional state,HPO,phenotype,PHENOTYPE_7237
7238,7238,7238,7238,7238,7238,7238,7238,430143,Elevated circulating C12 acylcarnitine concentration,HPO,phenotype,PHENOTYPE_7238
7239,7239,7239,7239,7239,7239,7239,7239,11590,Double aortic arch,HPO,phenotype,PHENOTYPE_7239
7240,7240,7240,7240,7240,7240,7240,7240,10293,Aplasia/Hypoplasia of the uvula,HPO,phenotype,PHENOTYPE_7240
7241,7241,7241,7241,7241,7241,7241,7241,25553,Periorbital ecchymosis with tarsal plate sparing,HPO,phenotype,PHENOTYPE_7241
7242,7242,7242,7242,7242,7242,7242,7242,6959,Proximal spinal muscular atrophy,HPO,phenotype,PHENOTYPE_7242
7243,7243,7243,7243,7243,7243,7243,7243,6000019,Anthracycline exposure,HPO,phenotype,PHENOTYPE_7243
7244,7244,7244,7244,7244,7244,7244,7244,31943,Akathisia,HPO,phenotype,PHENOTYPE_7244
7245,7245,7245,7245,7245,7245,7245,7245,34353,Appendicular spasticity,HPO,phenotype,PHENOTYPE_7245
7246,7246,7246,7246,7246,7246,7246,7246,11381,Aplasia of the semicircular canal,HPO,phenotype,PHENOTYPE_7246
7247,7247,7247,7247,7247,7247,7247,7247,20206,Simple ear,HPO,phenotype,PHENOTYPE_7247
7248,7248,7248,7248,7248,7248,7248,7248,9743,Distichiasis,HPO,phenotype,PHENOTYPE_7248
7249,7249,7249,7249,7249,7249,7249,7249,11892,Decreased circulating vitamin K concentration,HPO,phenotype,PHENOTYPE_7249
7250,7250,7250,7250,7250,7250,7250,7250,5184,Prolonged QTc interval,HPO,phenotype,PHENOTYPE_7250
7251,7251,7251,7251,7251,7251,7251,7251,200143,Megaloblastic erythroid hyperplasia,HPO,phenotype,PHENOTYPE_7251
7252,7252,7252,7252,7252,7252,7252,7252,25538,Palmar edema,HPO,phenotype,PHENOTYPE_7252
7253,7253,7253,7253,7253,7253,7253,7253,8981,Calf muscle hypertrophy,HPO,phenotype,PHENOTYPE_7253
7254,7254,7254,7254,7254,7254,7254,7254,100464,Patchy sclerosis of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_7254
7255,7255,7255,7255,7255,7255,7255,7255,31722,Near esotropia,HPO,phenotype,PHENOTYPE_7255
7256,7256,7256,7256,7256,7256,7256,7256,12868,Abnormal sperm tail morphology,HPO,phenotype,PHENOTYPE_7256
7257,7257,7257,7257,7257,7257,7257,7257,100166,Stippling of the epiphysis of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_7257
7258,7258,7258,7258,7258,7258,7258,7258,31578,Tessier number 6 facial cleft,HPO,phenotype,PHENOTYPE_7258
7259,7259,7259,7259,7259,7259,7259,7259,25101,Dysgenesis of the hippocampus,HPO,phenotype,PHENOTYPE_7259
7260,7260,7260,7260,7260,7260,7260,7260,2162,Low posterior hairline,HPO,phenotype,PHENOTYPE_7260
7261,7261,7261,7261,7261,7261,7261,7261,3000079,Abnormal mandibular symphysis morphology,HPO,phenotype,PHENOTYPE_7261
7262,7262,7262,7262,7262,7262,7262,7262,32936,Intrusion symptom,HPO,phenotype,PHENOTYPE_7262
7263,7263,7263,7263,7263,7263,7263,7263,100089,Abnormality of the epiphysis of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_7263
7264,7264,7264,7264,7264,7264,7264,7264,32087,Aortic laminar medial collapse,HPO,phenotype,PHENOTYPE_7264
7265,7265,7265,7265,7265,7265,7265,7265,32758,Focal aware myoclonic seizure,HPO,phenotype,PHENOTYPE_7265
7266,7266,7266,7266,7266,7266,7266,7266,11612,Interrupted aortic arch type A,HPO,phenotype,PHENOTYPE_7266
7267,7267,7267,7267,7267,7267,7267,7267,33152,Abnormal pharynx physiology,HPO,phenotype,PHENOTYPE_7267
7268,7268,7268,7268,7268,7268,7268,7268,30080,Burkitt lymphoma,HPO,phenotype,PHENOTYPE_7268
7269,7269,7269,7269,7269,7269,7269,7269,9734,Optic nerve glioma,HPO,phenotype,PHENOTYPE_7269
7270,7270,7270,7270,7270,7270,7270,7270,3240,Increased phosphoribosylpyrophosphate synthetase level,HPO,phenotype,PHENOTYPE_7270
7271,7271,7271,7271,7271,7271,7271,7271,40115,Abnormal Eustachian tube morphology,HPO,phenotype,PHENOTYPE_7271
7272,7272,7272,7272,7272,7272,7272,7272,3206,Decreased activity of NADPH oxidase,HPO,phenotype,PHENOTYPE_7272
7273,7273,7273,7273,7273,7273,7273,7273,6001120,Occupational history of putting fingers in other people's mouths,HPO,phenotype,PHENOTYPE_7273
7274,7274,7274,7274,7274,7274,7274,7274,6001021,Subcutaneous emphysema,HPO,phenotype,PHENOTYPE_7274
7275,7275,7275,7275,7275,7275,7275,7275,32714,Focal impaired awareness bilateral motor seizure,HPO,phenotype,PHENOTYPE_7275
7276,7276,7276,7276,7276,7276,7276,7276,410340,Focal epithelial hyperplasia of oral mucosa,HPO,phenotype,PHENOTYPE_7276
7277,7277,7277,7277,7277,7277,7277,7277,25043,Enlarged mesenteric lymph node,HPO,phenotype,PHENOTYPE_7277
7278,7278,7278,7278,7278,7278,7278,7278,4866,Impaired ADP-induced platelet aggregation,HPO,phenotype,PHENOTYPE_7278
7279,7279,7279,7279,7279,7279,7279,7279,100412,Complete duplication of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_7279
7280,7280,7280,7280,7280,7280,7280,7280,31551,Reduced cell surface marker level,HPO,phenotype,PHENOTYPE_7280
7281,7281,7281,7281,7281,7281,7281,7281,45079,Distal femoral metaphyseal irregularity,HPO,phenotype,PHENOTYPE_7281
7282,7282,7282,7282,7282,7282,7282,7282,8011,Peripheral opacification of the cornea,HPO,phenotype,PHENOTYPE_7282
7283,7283,7283,7283,7283,7283,7283,7283,430131,Parietal cortex localization,HPO,phenotype,PHENOTYPE_7283
7284,7284,7284,7284,7284,7284,7284,7284,32537,Delayed fracture healing,HPO,phenotype,PHENOTYPE_7284
7285,7285,7285,7285,7285,7285,7285,7285,11340,Incomplete cleft of the upper lip,HPO,phenotype,PHENOTYPE_7285
7286,7286,7286,7286,7286,7286,7286,7286,3985,Exostoses of the ulna,HPO,phenotype,PHENOTYPE_7286
7287,7287,7287,7287,7287,7287,7287,7287,31076,Impaired cortisol response to insulin stimulation test,HPO,phenotype,PHENOTYPE_7287
7288,7288,7288,7288,7288,7288,7288,7288,5222,Bowel diverticulosis,HPO,phenotype,PHENOTYPE_7288
7289,7289,7289,7289,7289,7289,7289,7289,10096,Complete duplication of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_7289
7290,7290,7290,7290,7290,7290,7290,7290,2624,Abnormal venous morphology,HPO,phenotype,PHENOTYPE_7290
7291,7291,7291,7291,7291,7291,7291,7291,32430,Increased HDL3b concentration,HPO,phenotype,PHENOTYPE_7291
7292,7292,7292,7292,7292,7292,7292,7292,410071,Increased CSF ribitol concentration,HPO,phenotype,PHENOTYPE_7292
7293,7293,7293,7293,7293,7293,7293,7293,493,Abnormal foveal morphology,HPO,phenotype,PHENOTYPE_7293
7294,7294,7294,7294,7294,7294,7294,7294,34775,Abnormal blink rate,HPO,phenotype,PHENOTYPE_7294
7295,7295,7295,7295,7295,7295,7295,7295,100890,Cyst of the ductus choledochus,HPO,phenotype,PHENOTYPE_7295
7296,7296,7296,7296,7296,7296,7296,7296,11667,Bilateral superior vena cava with bridging vein,HPO,phenotype,PHENOTYPE_7296
7297,7297,7297,7297,7297,7297,7297,7297,9451,Bullet-shaped proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_7297
7298,7298,7298,7298,7298,7298,7298,7298,33701,Cortical sclerosis of the iliac wing,HPO,phenotype,PHENOTYPE_7298
7299,7299,7299,7299,7299,7299,7299,7299,30244,Maternal fever in pregnancy,HPO,phenotype,PHENOTYPE_7299
7300,7300,7300,7300,7300,7300,7300,7300,33709,Increased sputum production,HPO,phenotype,PHENOTYPE_7300
7301,7301,7301,7301,7301,7301,7301,7301,6207,Partial fusion of carpals,HPO,phenotype,PHENOTYPE_7301
7302,7302,7302,7302,7302,7302,7302,7302,11253,Type I cryptotia,HPO,phenotype,PHENOTYPE_7302
7303,7303,7303,7303,7303,7303,7303,7303,3959,Deformed forearm bones,HPO,phenotype,PHENOTYPE_7303
7304,7304,7304,7304,7304,7304,7304,7304,500192,Abnormal CSF isoleucine concentration,HPO,phenotype,PHENOTYPE_7304
7305,7305,7305,7305,7305,7305,7305,7305,11032,Abnormality of fluid regulation,HPO,phenotype,PHENOTYPE_7305
7306,7306,7306,7306,7306,7306,7306,7306,31597,PR segment elevation,HPO,phenotype,PHENOTYPE_7306
7307,7307,7307,7307,7307,7307,7307,7307,1952,Glucose intolerance,HPO,phenotype,PHENOTYPE_7307
7308,7308,7308,7308,7308,7308,7308,7308,10697,Anterior pyramidal cataract,HPO,phenotype,PHENOTYPE_7308
7309,7309,7309,7309,7309,7309,7309,7309,6880,Cerebellar hemangioblastoma,HPO,phenotype,PHENOTYPE_7309
7310,7310,7310,7310,7310,7310,7310,7310,34436,Gaze avoidance,HPO,phenotype,PHENOTYPE_7310
7311,7311,7311,7311,7311,7311,7311,7311,10669,Hypoplasia of the zygomatic bone,HPO,phenotype,PHENOTYPE_7311
7312,7312,7312,7312,7312,7312,7312,7312,1471,Aplasia/Hypoplasia of the musculature of the pelvis,HPO,phenotype,PHENOTYPE_7312
7313,7313,7313,7313,7313,7313,7313,7313,40327,Abnormal morphology of the olfactory bulb,HPO,phenotype,PHENOTYPE_7313
7314,7314,7314,7314,7314,7314,7314,7314,33832,Livedo,HPO,phenotype,PHENOTYPE_7314
7315,7315,7315,7315,7315,7315,7315,7315,6157,Prominent palmar flexion creases,HPO,phenotype,PHENOTYPE_7315
7316,7316,7316,7316,7316,7316,7316,7316,25647,Steroid-sensitive nephrotic syndrome,HPO,phenotype,PHENOTYPE_7316
7317,7317,7317,7317,7317,7317,7317,7317,6001137,Triceps tendon rupture,HPO,phenotype,PHENOTYPE_7317
7318,7318,7318,7318,7318,7318,7318,7318,34583,Lipid-laden lymph node macrophages,HPO,phenotype,PHENOTYPE_7318
7319,7319,7319,7319,7319,7319,7319,7319,3465,Elevated 8(9)-cholestenol,HPO,phenotype,PHENOTYPE_7319
7320,7320,7320,7320,7320,7320,7320,7320,500031,Sclerosis of the carpal bones,HPO,phenotype,PHENOTYPE_7320
7321,7321,7321,7321,7321,7321,7321,7321,500011,Moon facies,HPO,phenotype,PHENOTYPE_7321
7322,7322,7322,7322,7322,7322,7322,7322,4294,Subluxation of metacarpal phalangeal joints,HPO,phenotype,PHENOTYPE_7322
7323,7323,7323,7323,7323,7323,7323,7323,410388,"Decreased proportion of central memory CD4-positive, alpha-beta T cells",HPO,phenotype,PHENOTYPE_7323
7324,7324,7324,7324,7324,7324,7324,7324,5648,Bilateral ulnar hypoplasia,HPO,phenotype,PHENOTYPE_7324
7325,7325,7325,7325,7325,7325,7325,7325,10708,1-5 finger cutaneous syndactyly,HPO,phenotype,PHENOTYPE_7325
7326,7326,7326,7326,7326,7326,7326,7326,8808,High iliac wing,HPO,phenotype,PHENOTYPE_7326
7327,7327,7327,7327,7327,7327,7327,7327,9427,Triangular shaped distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_7327
7328,7328,7328,7328,7328,7328,7328,7328,4581,Increased anterior vertebral height,HPO,phenotype,PHENOTYPE_7328
7329,7329,7329,7329,7329,7329,7329,7329,31465,Abnormal vasa vasorum morphology,HPO,phenotype,PHENOTYPE_7329
7330,7330,7330,7330,7330,7330,7330,7330,30711,Hydrocolpos,HPO,phenotype,PHENOTYPE_7330
7331,7331,7331,7331,7331,7331,7331,7331,31392,Abnormal proportion of CD4-positive T cells,HPO,phenotype,PHENOTYPE_7331
7332,7332,7332,7332,7332,7332,7332,7332,25598,Inferior oblique muscle weakness,HPO,phenotype,PHENOTYPE_7332
7333,7333,7333,7333,7333,7333,7333,7333,11414,Hydropic placenta,HPO,phenotype,PHENOTYPE_7333
7334,7334,7334,7334,7334,7334,7334,7334,3688,Cytochrome C oxidase-negative muscle fibers,HPO,phenotype,PHENOTYPE_7334
7335,7335,7335,7335,7335,7335,7335,7335,9964,Duplication of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_7335
7336,7336,7336,7336,7336,7336,7336,7336,100128,Ivory epiphysis of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_7336
7337,7337,7337,7337,7337,7337,7337,7337,31888,Abnormal HDL cholesterol concentration,HPO,phenotype,PHENOTYPE_7337
7338,7338,7338,7338,7338,7338,7338,7338,100517,Neoplasm of the urethra,HPO,phenotype,PHENOTYPE_7338
7339,7339,7339,7339,7339,7339,7339,7339,8111,Broad distal hallux,HPO,phenotype,PHENOTYPE_7339
7340,7340,7340,7340,7340,7340,7340,7340,10204,Broad proximal phalanx of toe,HPO,phenotype,PHENOTYPE_7340
7341,7341,7341,7341,7341,7341,7341,7341,100624,Corpus cavernosum sclerosis,HPO,phenotype,PHENOTYPE_7341
7342,7342,7342,7342,7342,7342,7342,7342,4000115,Potassium-sparing diuretic exposure,HPO,phenotype,PHENOTYPE_7342
7343,7343,7343,7343,7343,7343,7343,7343,3561,Birth length less than 3rd percentile,HPO,phenotype,PHENOTYPE_7343
7344,7344,7344,7344,7344,7344,7344,7344,12473,Tongue atrophy,HPO,phenotype,PHENOTYPE_7344
7345,7345,7345,7345,7345,7345,7345,7345,5265,Abnormal jejunum morphology,HPO,phenotype,PHENOTYPE_7345
7346,7346,7346,7346,7346,7346,7346,7346,33024,Transient decreased circulating IgA,HPO,phenotype,PHENOTYPE_7346
7347,7347,7347,7347,7347,7347,7347,7347,200021,Down-sloping shoulders,HPO,phenotype,PHENOTYPE_7347
7348,7348,7348,7348,7348,7348,7348,7348,11943,Increased urinary thiosulfate,HPO,phenotype,PHENOTYPE_7348
7349,7349,7349,7349,7349,7349,7349,7349,500167,Hypergastrinemia,HPO,phenotype,PHENOTYPE_7349
7350,7350,7350,7350,7350,7350,7350,7350,31928,True ependymal rosette,HPO,phenotype,PHENOTYPE_7350
7351,7351,7351,7351,7351,7351,7351,7351,4000143,Abnormal fetal heart outflow tract,HPO,phenotype,PHENOTYPE_7351
7352,7352,7352,7352,7352,7352,7352,7352,2436,Occipital meningocele,HPO,phenotype,PHENOTYPE_7352
7353,7353,7353,7353,7353,7353,7353,7353,6000845,Vascular compression of the eighth cranial nerve,HPO,phenotype,PHENOTYPE_7353
7354,7354,7354,7354,7354,7354,7354,7354,410286,Positive blood molindone test,HPO,phenotype,PHENOTYPE_7354
7355,7355,7355,7355,7355,7355,7355,7355,410204,Increased intestinal transit time,HPO,phenotype,PHENOTYPE_7355
7356,7356,7356,7356,7356,7356,7356,7356,10125,Abnormality of the epiphysis of the 1st metatarsal,HPO,phenotype,PHENOTYPE_7356
7357,7357,7357,7357,7357,7357,7357,7357,100808,Gastric diverticulum,HPO,phenotype,PHENOTYPE_7357
7358,7358,7358,7358,7358,7358,7358,7358,500042,Latent hypermetropia,HPO,phenotype,PHENOTYPE_7358
7359,7359,7359,7359,7359,7359,7359,7359,6001006,Elevated urine dihydroxycholestanoic acid level,HPO,phenotype,PHENOTYPE_7359
7360,7360,7360,7360,7360,7360,7360,7360,200035,Skin plaque,HPO,phenotype,PHENOTYPE_7360
7361,7361,7361,7361,7361,7361,7361,7361,5186,Synovial lining hyperplasia,HPO,phenotype,PHENOTYPE_7361
7362,7362,7362,7362,7362,7362,7362,7362,30001,Lagophthalmos,HPO,phenotype,PHENOTYPE_7362
7363,7363,7363,7363,7363,7363,7363,7363,4043,Lytic defects of ulnar metaphysis,HPO,phenotype,PHENOTYPE_7363
7364,7364,7364,7364,7364,7364,7364,7364,7690,Map-dot-fingerprint corneal dystrophy,HPO,phenotype,PHENOTYPE_7364
7365,7365,7365,7365,7365,7365,7365,7365,10087,Bullet-shaped proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_7365
7366,7366,7366,7366,7366,7366,7366,7366,34251,Abnormal corneal reflex,HPO,phenotype,PHENOTYPE_7366
7367,7367,7367,7367,7367,7367,7367,7367,10588,Premature epimetaphyseal fusion,HPO,phenotype,PHENOTYPE_7367
7368,7368,7368,7368,7368,7368,7368,7368,33598,Fibrillar glomerular subepithelial deposits,HPO,phenotype,PHENOTYPE_7368
7369,7369,7369,7369,7369,7369,7369,7369,30847,Abnormal jugular venous pressure,HPO,phenotype,PHENOTYPE_7369
7370,7370,7370,7370,7370,7370,7370,7370,11783,Thyrotoxicosis from ectopic thyroid tissue,HPO,phenotype,PHENOTYPE_7370
7371,7371,7371,7371,7371,7371,7371,7371,2524,Cataplexy,HPO,phenotype,PHENOTYPE_7371
7372,7372,7372,7372,7372,7372,7372,7372,6000248,Synovial fluid crystals,HPO,phenotype,PHENOTYPE_7372
7373,7373,7373,7373,7373,7373,7373,7373,30002,Nocturnal lagophthalmos,HPO,phenotype,PHENOTYPE_7373
7374,7374,7374,7374,7374,7374,7374,7374,30835,Elbow pain,HPO,phenotype,PHENOTYPE_7374
7375,7375,7375,7375,7375,7375,7375,7375,30573,Pinhole visual acuity 0.5 LogMAR,HPO,phenotype,PHENOTYPE_7375
7376,7376,7376,7376,7376,7376,7376,7376,32293,Monoclonal elevation of IgG heavy chain,HPO,phenotype,PHENOTYPE_7376
7377,7377,7377,7377,7377,7377,7377,7377,33083,Increased circulating farnesol concentration,HPO,phenotype,PHENOTYPE_7377
7378,7378,7378,7378,7378,7378,7378,7378,6378,Osteolysis of patellae,HPO,phenotype,PHENOTYPE_7378
7379,7379,7379,7379,7379,7379,7379,7379,33516,Addictive benzodiazepine use,HPO,phenotype,PHENOTYPE_7379
7380,7380,7380,7380,7380,7380,7380,7380,9912,Abnormal tragus morphology,HPO,phenotype,PHENOTYPE_7380
7381,7381,7381,7381,7381,7381,7381,7381,306,Abnormality of the chin,HPO,phenotype,PHENOTYPE_7381
7382,7382,7382,7382,7382,7382,7382,7382,6000865,Hyperphalangy of the 4th finger,HPO,phenotype,PHENOTYPE_7382
7383,7383,7383,7383,7383,7383,7383,7383,100346,Fibular deviation of the 5th toe,HPO,phenotype,PHENOTYPE_7383
7384,7384,7384,7384,7384,7384,7384,7384,6252,Interphalangeal joint erosions,HPO,phenotype,PHENOTYPE_7384
7385,7385,7385,7385,7385,7385,7385,7385,6519,Alveolar cell carcinoma,HPO,phenotype,PHENOTYPE_7385
7386,7386,7386,7386,7386,7386,7386,7386,32974,Abnormal cellular composition of bronchoalveolar fluid,HPO,phenotype,PHENOTYPE_7386
7387,7387,7387,7387,7387,7387,7387,7387,25597,Inferior oblique muscle restriction,HPO,phenotype,PHENOTYPE_7387
7388,7388,7388,7388,7388,7388,7388,7388,3696,Absent epiphysis of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_7388
7389,7389,7389,7389,7389,7389,7389,7389,34102,Anti-sphingolipid antibody positivity,HPO,phenotype,PHENOTYPE_7389
7390,7390,7390,7390,7390,7390,7390,7390,1129,Large central visual field defect,HPO,phenotype,PHENOTYPE_7390
7391,7391,7391,7391,7391,7391,7391,7391,4963,Calcification of the aorta,HPO,phenotype,PHENOTYPE_7391
7392,7392,7392,7392,7392,7392,7392,7392,33936,Cortical radial artery intima/media liquefactive necrosis,HPO,phenotype,PHENOTYPE_7392
7393,7393,7393,7393,7393,7393,7393,7393,33863,Abnormal cortical peritubular capillary lumen morphology,HPO,phenotype,PHENOTYPE_7393
7394,7394,7394,7394,7394,7394,7394,7394,5193,Restricted large joint movement,HPO,phenotype,PHENOTYPE_7394
7395,7395,7395,7395,7395,7395,7395,7395,6001053,Vertebra plana,HPO,phenotype,PHENOTYPE_7395
7396,7396,7396,7396,7396,7396,7396,7396,10519,Increased fetal movement,HPO,phenotype,PHENOTYPE_7396
7397,7397,7397,7397,7397,7397,7397,7397,7840,Long upper eyelashes,HPO,phenotype,PHENOTYPE_7397
7398,7398,7398,7398,7398,7398,7398,7398,33183,Bilobed right lung,HPO,phenotype,PHENOTYPE_7398
7399,7399,7399,7399,7399,7399,7399,7399,1427,Mitochondrial inheritance,HPO,phenotype,PHENOTYPE_7399
7400,7400,7400,7400,7400,7400,7400,7400,100900,Sclerosis of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_7400
7401,7401,7401,7401,7401,7401,7401,7401,100922,Sclerosis of thumb phalanx,HPO,phenotype,PHENOTYPE_7401
7402,7402,7402,7402,7402,7402,7402,7402,12004,Focal cognitive seizure with deja vu/jamais vu,HPO,phenotype,PHENOTYPE_7402
7403,7403,7403,7403,7403,7403,7403,7403,3961,Fractured forearm bone,HPO,phenotype,PHENOTYPE_7403
7404,7404,7404,7404,7404,7404,7404,7404,6224,Tapering pointed ends of distal finger phalanges,HPO,phenotype,PHENOTYPE_7404
7405,7405,7405,7405,7405,7405,7405,7405,2380,Fasciculations,HPO,phenotype,PHENOTYPE_7405
7406,7406,7406,7406,7406,7406,7406,7406,10384,Broad phalanges of the 5th toe,HPO,phenotype,PHENOTYPE_7406
7407,7407,7407,7407,7407,7407,7407,7407,34967,Uterine cyst,HPO,phenotype,PHENOTYPE_7407
7408,7408,7408,7408,7408,7408,7408,7408,34519,Muscle fiber fuchsinophilic inclusion bodies,HPO,phenotype,PHENOTYPE_7408
7409,7409,7409,7409,7409,7409,7409,7409,719,Inappropriate behavior,HPO,phenotype,PHENOTYPE_7409
7410,7410,7410,7410,7410,7410,7410,7410,2908,Conjugated hyperbilirubinemia,HPO,phenotype,PHENOTYPE_7410
7411,7411,7411,7411,7411,7411,7411,7411,4273,Cupped metaphyses of hand bones,HPO,phenotype,PHENOTYPE_7411
7412,7412,7412,7412,7412,7412,7412,7412,25255,Ameliorated by pregnancy,HPO,phenotype,PHENOTYPE_7412
7413,7413,7413,7413,7413,7413,7413,7413,10874,Tendon xanthomatosis,HPO,phenotype,PHENOTYPE_7413
7414,7414,7414,7414,7414,7414,7414,7414,100457,Osteolytic defects of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_7414
7415,7415,7415,7415,7415,7415,7415,7415,5200110,Infrequent social engagement with peers,HPO,phenotype,PHENOTYPE_7415
7416,7416,7416,7416,7416,7416,7416,7416,8455,Dysplastic sacrum,HPO,phenotype,PHENOTYPE_7416
7417,7417,7417,7417,7417,7417,7417,7417,6000988,Cochlear nerve aplasia,HPO,phenotype,PHENOTYPE_7417
7418,7418,7418,7418,7418,7418,7418,7418,33260,Livedo racemosa,HPO,phenotype,PHENOTYPE_7418
7419,7419,7419,7419,7419,7419,7419,7419,34613,Elevated urine erythritol level,HPO,phenotype,PHENOTYPE_7419
7420,7420,7420,7420,7420,7420,7420,7420,200120,Chronic active hepatitis,HPO,phenotype,PHENOTYPE_7420
7421,7421,7421,7421,7421,7421,7421,7421,10776,Tracheobronchmegaly,HPO,phenotype,PHENOTYPE_7421
7422,7422,7422,7422,7422,7422,7422,7422,34558,Rhabdoid tumor of the ovary,HPO,phenotype,PHENOTYPE_7422
7423,7423,7423,7423,7423,7423,7423,7423,9297,Osteolytic defects of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_7423
7424,7424,7424,7424,7424,7424,7424,7424,34489,Increased circulating interleukin 2 concentration,HPO,phenotype,PHENOTYPE_7424
7425,7425,7425,7425,7425,7425,7425,7425,33599,Glomerular amyloid subepithelial deposits,HPO,phenotype,PHENOTYPE_7425
7426,7426,7426,7426,7426,7426,7426,7426,31486,Vascular malformation of the lip,HPO,phenotype,PHENOTYPE_7426
7427,7427,7427,7427,7427,7427,7427,7427,6536,Airway obstruction,HPO,phenotype,PHENOTYPE_7427
7428,7428,7428,7428,7428,7428,7428,7428,1460,Aplasia/Hypoplasia involving the skeletal musculature,HPO,phenotype,PHENOTYPE_7428
7429,7429,7429,7429,7429,7429,7429,7429,6000249,Enlarged gastric folds,HPO,phenotype,PHENOTYPE_7429
7430,7430,7430,7430,7430,7430,7430,7430,7827,Nodular corneal dystrophy,HPO,phenotype,PHENOTYPE_7430
7431,7431,7431,7431,7431,7431,7431,7431,32107,Limbal stem cell deficiency,HPO,phenotype,PHENOTYPE_7431
7432,7432,7432,7432,7432,7432,7432,7432,3469,Peripheral dysmyelination,HPO,phenotype,PHENOTYPE_7432
7433,7433,7433,7433,7433,7433,7433,7433,6000782,Reduced tissue phosphomannose isomerase activity,HPO,phenotype,PHENOTYPE_7433
7434,7434,7434,7434,7434,7434,7434,7434,33546,Mesangial microfibril deposition,HPO,phenotype,PHENOTYPE_7434
7435,7435,7435,7435,7435,7435,7435,7435,14,Abnormality of the bladder,HPO,phenotype,PHENOTYPE_7435
7436,7436,7436,7436,7436,7436,7436,7436,8376,Nasal dysarthria,HPO,phenotype,PHENOTYPE_7436
7437,7437,7437,7437,7437,7437,7437,7437,6001071,Incus ankylosis,HPO,phenotype,PHENOTYPE_7437
7438,7438,7438,7438,7438,7438,7438,7438,10523,Alexia,HPO,phenotype,PHENOTYPE_7438
7439,7439,7439,7439,7439,7439,7439,7439,34374,Trident acetabulum,HPO,phenotype,PHENOTYPE_7439
7440,7440,7440,7440,7440,7440,7440,7440,32311,Increased circulating globulin level,HPO,phenotype,PHENOTYPE_7440
7441,7441,7441,7441,7441,7441,7441,7441,200034,Papule,HPO,phenotype,PHENOTYPE_7441
7442,7442,7442,7442,7442,7442,7442,7442,410379,"Abnormal proportion of CD4-positive, alpha-beta memory T cells",HPO,phenotype,PHENOTYPE_7442
7443,7443,7443,7443,7443,7443,7443,7443,6001005,Positive gastric CMV intranuclear inclusions,HPO,phenotype,PHENOTYPE_7443
7444,7444,7444,7444,7444,7444,7444,7444,12414,Duodenal atrophy,HPO,phenotype,PHENOTYPE_7444
7445,7445,7445,7445,7445,7445,7445,7445,2558,Supernumerary nipple,HPO,phenotype,PHENOTYPE_7445
7446,7446,7446,7446,7446,7446,7446,7446,8968,Muscle hypertrophy of the lower extremities,HPO,phenotype,PHENOTYPE_7446
7447,7447,7447,7447,7447,7447,7447,7447,6000223,Recent history of caustic substance ingestion,HPO,phenotype,PHENOTYPE_7447
7448,7448,7448,7448,7448,7448,7448,7448,35008,Thick spermatozoon midpiece insertion,HPO,phenotype,PHENOTYPE_7448
7449,7449,7449,7449,7449,7449,7449,7449,100349,Contracture of the proximal interphalangeal joint of the 3rd toe,HPO,phenotype,PHENOTYPE_7449
7450,7450,7450,7450,7450,7450,7450,7450,100443,Curved middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_7450
7451,7451,7451,7451,7451,7451,7451,7451,33675,Frailty,HPO,phenotype,PHENOTYPE_7451
7452,7452,7452,7452,7452,7452,7452,7452,100579,Mucosal telangiectasiae,HPO,phenotype,PHENOTYPE_7452
7453,7453,7453,7453,7453,7453,7453,7453,41068,Chronic decreased circulating IgG1,HPO,phenotype,PHENOTYPE_7453
7454,7454,7454,7454,7454,7454,7454,7454,4605,Absent vertebral body mineralization,HPO,phenotype,PHENOTYPE_7454
7455,7455,7455,7455,7455,7455,7455,7455,33956,Cortical radial artery lymphocyte hypercellularity,HPO,phenotype,PHENOTYPE_7455
7456,7456,7456,7456,7456,7456,7456,7456,6000357,Reduced cystathionine beta-synthase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_7456
7457,7457,7457,7457,7457,7457,7457,7457,2919,Ketonuria,HPO,phenotype,PHENOTYPE_7457
7458,7458,7458,7458,7458,7458,7458,7458,34890,Positive CMV urine nucleic acid test,HPO,phenotype,PHENOTYPE_7458
7459,7459,7459,7459,7459,7459,7459,7459,6000544,Positive mycobacterium CSF microscopy,HPO,phenotype,PHENOTYPE_7459
7460,7460,7460,7460,7460,7460,7460,7460,9233,Triangular shaped proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_7460
7461,7461,7461,7461,7461,7461,7461,7461,30477,Abnormal timing of dark-adapted bright flash electroretinogram,HPO,phenotype,PHENOTYPE_7461
7462,7462,7462,7462,7462,7462,7462,7462,2038,Protein avoidance,HPO,phenotype,PHENOTYPE_7462
7463,7463,7463,7463,7463,7463,7463,7463,11201,EEG with changes in voltage,HPO,phenotype,PHENOTYPE_7463
7464,7464,7464,7464,7464,7464,7464,7464,6000013,Bendopnea,HPO,phenotype,PHENOTYPE_7464
7465,7465,7465,7465,7465,7465,7465,7465,33030,Anti-glomerular basement membrane-antibody positivity,HPO,phenotype,PHENOTYPE_7465
7466,7466,7466,7466,7466,7466,7466,7466,9229,Curved proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_7466
7467,7467,7467,7467,7467,7467,7467,7467,32286,Ultra-low vision with retained light perception,HPO,phenotype,PHENOTYPE_7467
7468,7468,7468,7468,7468,7468,7468,7468,33610,Subsolid pulmonary nodule,HPO,phenotype,PHENOTYPE_7468
7469,7469,7469,7469,7469,7469,7469,7469,8833,Irregular acetabular roof,HPO,phenotype,PHENOTYPE_7469
7470,7470,7470,7470,7470,7470,7470,7470,12421,Congenital absence of foreskin,HPO,phenotype,PHENOTYPE_7470
7471,7471,7471,7471,7471,7471,7471,7471,8763,No social interaction,HPO,phenotype,PHENOTYPE_7471
7472,7472,7472,7472,7472,7472,7472,7472,6000225,Single second heart sound,HPO,phenotype,PHENOTYPE_7472
7473,7473,7473,7473,7473,7473,7473,7473,9717,Cortical tubers,HPO,phenotype,PHENOTYPE_7473
7474,7474,7474,7474,7474,7474,7474,7474,6000762,Positive rubella CSF culture,HPO,phenotype,PHENOTYPE_7474
7475,7475,7475,7475,7475,7475,7475,7475,5200363,Prolonged NREM sleep,HPO,phenotype,PHENOTYPE_7475
7476,7476,7476,7476,7476,7476,7476,7476,100848,Neoplasm of the male external genitalia,HPO,phenotype,PHENOTYPE_7476
7477,7477,7477,7477,7477,7477,7477,7477,9983,Partial duplication of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_7477
7478,7478,7478,7478,7478,7478,7478,7478,3231,Hypertyrosinemia,HPO,phenotype,PHENOTYPE_7478
7479,7479,7479,7479,7479,7479,7479,7479,100461,Patchy sclerosis of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_7479
7480,7480,7480,7480,7480,7480,7480,7480,4841,Reduced factor XII activity,HPO,phenotype,PHENOTYPE_7480
7481,7481,7481,7481,7481,7481,7481,7481,5200299,REM parasomnia,HPO,phenotype,PHENOTYPE_7481
7482,7482,7482,7482,7482,7482,7482,7482,100918,Sclerosis of 2nd finger phalanx,HPO,phenotype,PHENOTYPE_7482
7483,7483,7483,7483,7483,7483,7483,7483,9779,3-4 toe syndactyly,HPO,phenotype,PHENOTYPE_7483
7484,7484,7484,7484,7484,7484,7484,7484,33385,Elevated urine pyridinoline level,HPO,phenotype,PHENOTYPE_7484
7485,7485,7485,7485,7485,7485,7485,7485,10595,Abnormality of the distal fibular epiphysis,HPO,phenotype,PHENOTYPE_7485
7486,7486,7486,7486,7486,7486,7486,7486,5772,Aplasia/Hypoplasia of the tibia,HPO,phenotype,PHENOTYPE_7486
7487,7487,7487,7487,7487,7487,7487,7487,3894,Delayed humeral epiphyseal ossification,HPO,phenotype,PHENOTYPE_7487
7488,7488,7488,7488,7488,7488,7488,7488,2087,Abnormality of the upper respiratory tract,HPO,phenotype,PHENOTYPE_7488
7489,7489,7489,7489,7489,7489,7489,7489,500161,Increased circulating carnosine concentration,HPO,phenotype,PHENOTYPE_7489
7490,7490,7490,7490,7490,7490,7490,7490,6000702,Elevated urinary glyoxylic acid level,HPO,phenotype,PHENOTYPE_7490
7491,7491,7491,7491,7491,7491,7491,7491,5200316,Diminishment of interpersonal communication,HPO,phenotype,PHENOTYPE_7491
7492,7492,7492,7492,7492,7492,7492,7492,10653,Abnormality of the falx cerebri,HPO,phenotype,PHENOTYPE_7492
7493,7493,7493,7493,7493,7493,7493,7493,6000883,Recent history of sedation by propofol infusion,HPO,phenotype,PHENOTYPE_7493
7494,7494,7494,7494,7494,7494,7494,7494,2507,Semilobar holoprosencephaly,HPO,phenotype,PHENOTYPE_7494
7495,7495,7495,7495,7495,7495,7495,7495,500149,Hyperglutamatemia,HPO,phenotype,PHENOTYPE_7495
7496,7496,7496,7496,7496,7496,7496,7496,6092,Malaligned carpal bone,HPO,phenotype,PHENOTYPE_7496
7497,7497,7497,7497,7497,7497,7497,7497,30177,Abnormality of peripheral nervous system electrophysiology,HPO,phenotype,PHENOTYPE_7497
7498,7498,7498,7498,7498,7498,7498,7498,9562,Patchy sclerosis of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_7498
7499,7499,7499,7499,7499,7499,7499,7499,10608,Hordeolum internum,HPO,phenotype,PHENOTYPE_7499
7500,7500,7500,7500,7500,7500,7500,7500,9635,Synostosis of thumb phalanx,HPO,phenotype,PHENOTYPE_7500
7501,7501,7501,7501,7501,7501,7501,7501,100030,Accessory ectopic thyroid tissue,HPO,phenotype,PHENOTYPE_7501
7502,7502,7502,7502,7502,7502,7502,7502,7430,Generalized edema,HPO,phenotype,PHENOTYPE_7502
7503,7503,7503,7503,7503,7503,7503,7503,6722,Small intestine carcinoid,HPO,phenotype,PHENOTYPE_7503
7504,7504,7504,7504,7504,7504,7504,7504,100924,Sclerosis of toe phalanx,HPO,phenotype,PHENOTYPE_7504
7505,7505,7505,7505,7505,7505,7505,7505,31632,Anomalous origin of the right subclavian artery from the descending aorta,HPO,phenotype,PHENOTYPE_7505
7506,7506,7506,7506,7506,7506,7506,7506,4686,Short third metatarsal,HPO,phenotype,PHENOTYPE_7506
7507,7507,7507,7507,7507,7507,7507,7507,30144,Hypoactive bowel sounds,HPO,phenotype,PHENOTYPE_7507
7508,7508,7508,7508,7508,7508,7508,7508,100612,Odontogenic neoplasm,HPO,phenotype,PHENOTYPE_7508
7509,7509,7509,7509,7509,7509,7509,7509,2542,Olivopontocerebellar atrophy,HPO,phenotype,PHENOTYPE_7509
7510,7510,7510,7510,7510,7510,7510,7510,25704,Type 3 schizencephaly,HPO,phenotype,PHENOTYPE_7510
7511,7511,7511,7511,7511,7511,7511,7511,30920,5-minute APGAR score of 0,HPO,phenotype,PHENOTYPE_7511
7512,7512,7512,7512,7512,7512,7512,7512,34399,Prolonged central motor conduction time,HPO,phenotype,PHENOTYPE_7512
7513,7513,7513,7513,7513,7513,7513,7513,828,Abnormality of the parathyroid gland,HPO,phenotype,PHENOTYPE_7513
7514,7514,7514,7514,7514,7514,7514,7514,32045,Hypoplastic carotid canal,HPO,phenotype,PHENOTYPE_7514
7515,7515,7515,7515,7515,7515,7515,7515,34143,Anti-threonyl-tRNA synthetase antibody positivity,HPO,phenotype,PHENOTYPE_7515
7516,7516,7516,7516,7516,7516,7516,7516,5243,Partial abdominal muscle agenesis,HPO,phenotype,PHENOTYPE_7516
7517,7517,7517,7517,7517,7517,7517,7517,25402,Square-wave jerks,HPO,phenotype,PHENOTYPE_7517
7518,7518,7518,7518,7518,7518,7518,7518,100792,Acantholysis,HPO,phenotype,PHENOTYPE_7518
7519,7519,7519,7519,7519,7519,7519,7519,9667,Enlarged epiphysis of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_7519
7520,7520,7520,7520,7520,7520,7520,7520,10982,Polygenic inheritance,HPO,phenotype,PHENOTYPE_7520
7521,7521,7521,7521,7521,7521,7521,7521,33689,Anterograde memory impairment,HPO,phenotype,PHENOTYPE_7521
7522,7522,7522,7522,7522,7522,7522,7522,12186,Entrapment neuropathy of the ulnar nerve at elbow,HPO,phenotype,PHENOTYPE_7522
7523,7523,7523,7523,7523,7523,7523,7523,100411,Complete duplication of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_7523
7524,7524,7524,7524,7524,7524,7524,7524,32022,Eosinophilic dermal infiltration,HPO,phenotype,PHENOTYPE_7524
7525,7525,7525,7525,7525,7525,7525,7525,9373,Type C brachydactyly,HPO,phenotype,PHENOTYPE_7525
7526,7526,7526,7526,7526,7526,7526,7526,1308,Tongue fasciculations,HPO,phenotype,PHENOTYPE_7526
7527,7527,7527,7527,7527,7527,7527,7527,25673,Loculated ascites,HPO,phenotype,PHENOTYPE_7527
7528,7528,7528,7528,7528,7528,7528,7528,32900,Focal manual automatism seizure,HPO,phenotype,PHENOTYPE_7528
7529,7529,7529,7529,7529,7529,7529,7529,10156,Pseudoepiphysis of the 1st metatarsal,HPO,phenotype,PHENOTYPE_7529
7530,7530,7530,7530,7530,7530,7530,7530,33510,Cutaneous horn,HPO,phenotype,PHENOTYPE_7530
7531,7531,7531,7531,7531,7531,7531,7531,11651,Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis,HPO,phenotype,PHENOTYPE_7531
7532,7532,7532,7532,7532,7532,7532,7532,20249,Abnormal lymph-node marginal or mantle zone morphology,HPO,phenotype,PHENOTYPE_7532
7533,7533,7533,7533,7533,7533,7533,7533,30935,Abnormal intestinal smooth muscle morphology,HPO,phenotype,PHENOTYPE_7533
7534,7534,7534,7534,7534,7534,7534,7534,130,Abnormality of the uterus,HPO,phenotype,PHENOTYPE_7534
7535,7535,7535,7535,7535,7535,7535,7535,2171,Gliosis,HPO,phenotype,PHENOTYPE_7535
7536,7536,7536,7536,7536,7536,7536,7536,8231,Macronodular adrenal hyperplasia,HPO,phenotype,PHENOTYPE_7536
7537,7537,7537,7537,7537,7537,7537,7537,32870,Focal impaired awareness cognitive seizure with dyslexia/alexia,HPO,phenotype,PHENOTYPE_7537
7538,7538,7538,7538,7538,7538,7538,7538,41245,Fractured shoulder bone,HPO,phenotype,PHENOTYPE_7538
7539,7539,7539,7539,7539,7539,7539,7539,12225,Oligodontia of primary teeth,HPO,phenotype,PHENOTYPE_7539
7540,7540,7540,7540,7540,7540,7540,7540,6001051,Delta brush pattern on EEG,HPO,phenotype,PHENOTYPE_7540
7541,7541,7541,7541,7541,7541,7541,7541,300,Oval face,HPO,phenotype,PHENOTYPE_7541
7542,7542,7542,7542,7542,7542,7542,7542,20163,Cilioretinal artery occlusion,HPO,phenotype,PHENOTYPE_7542
7543,7543,7543,7543,7543,7543,7543,7543,5407,Decreased proportion of CD4-positive helper T cells,HPO,phenotype,PHENOTYPE_7543
7544,7544,7544,7544,7544,7544,7544,7544,32383,Uniparental heterodisomy,HPO,phenotype,PHENOTYPE_7544
7545,7545,7545,7545,7545,7545,7545,7545,100531,Wind-swept deformity of the knees,HPO,phenotype,PHENOTYPE_7545
7546,7546,7546,7546,7546,7546,7546,7546,245,Abnormal paranasal sinus morphology,HPO,phenotype,PHENOTYPE_7546
7547,7547,7547,7547,7547,7547,7547,7547,11920,Transudative pleural effusion,HPO,phenotype,PHENOTYPE_7547
7548,7548,7548,7548,7548,7548,7548,7548,11377,Aplasia of the vestibule,HPO,phenotype,PHENOTYPE_7548
7549,7549,7549,7549,7549,7549,7549,7549,10867,Dyssynergia,HPO,phenotype,PHENOTYPE_7549
7550,7550,7550,7550,7550,7550,7550,7550,30891,Periventricular white matter hyperintensities,HPO,phenotype,PHENOTYPE_7550
7551,7551,7551,7551,7551,7551,7551,7551,34632,Exogenous androgen exposure,HPO,phenotype,PHENOTYPE_7551
7552,7552,7552,7552,7552,7552,7552,7552,9404,Broad phalanges of the 4th finger,HPO,phenotype,PHENOTYPE_7552
7553,7553,7553,7553,7553,7553,7553,7553,20285,Decreased lymph node lymphocyte cytoplasm,HPO,phenotype,PHENOTYPE_7553
7554,7554,7554,7554,7554,7554,7554,7554,6292,Abnormality of dental eruption,HPO,phenotype,PHENOTYPE_7554
7555,7555,7555,7555,7555,7555,7555,7555,6000058,Exacerbation of eyelid lesion by crying,HPO,phenotype,PHENOTYPE_7555
7556,7556,7556,7556,7556,7556,7556,7556,10599,Abnormality of the distal humeral epiphysis,HPO,phenotype,PHENOTYPE_7556
7557,7557,7557,7557,7557,7557,7557,7557,32844,Focal impaired awareness epileptic spasm,HPO,phenotype,PHENOTYPE_7557
7558,7558,7558,7558,7558,7558,7558,7558,41082,Fractured skull,HPO,phenotype,PHENOTYPE_7558
7559,7559,7559,7559,7559,7559,7559,7559,12734,Ketotic hypoglycemia,HPO,phenotype,PHENOTYPE_7559
7560,7560,7560,7560,7560,7560,7560,7560,35032,Reduced circulating acetylcarnitine concentration,HPO,phenotype,PHENOTYPE_7560
7561,7561,7561,7561,7561,7561,7561,7561,34879,Ovarian mass,HPO,phenotype,PHENOTYPE_7561
7562,7562,7562,7562,7562,7562,7562,7562,30265,Wide penis,HPO,phenotype,PHENOTYPE_7562
7563,7563,7563,7563,7563,7563,7563,7563,4881,Episodic hypoventilation,HPO,phenotype,PHENOTYPE_7563
7564,7564,7564,7564,7564,7564,7564,7564,12763,Paroxysmal dyspnea,HPO,phenotype,PHENOTYPE_7564
7565,7565,7565,7565,7565,7565,7565,7565,12620,Cloacal abnormality,HPO,phenotype,PHENOTYPE_7565
7566,7566,7566,7566,7566,7566,7566,7566,30229,Accumulation of muscle fiber valosin-containing protein,HPO,phenotype,PHENOTYPE_7566
7567,7567,7567,7567,7567,7567,7567,7567,31914,Fluctuating,HPO,phenotype,PHENOTYPE_7567
7568,7568,7568,7568,7568,7568,7568,7568,40281,Very frequent,HPO,phenotype,PHENOTYPE_7568
7569,7569,7569,7569,7569,7569,7569,7569,10596,Abnormality of the proximal radial epiphysis,HPO,phenotype,PHENOTYPE_7569
7570,7570,7570,7570,7570,7570,7570,7570,11476,Profound sensorineural hearing impairment,HPO,phenotype,PHENOTYPE_7570
7571,7571,7571,7571,7571,7571,7571,7571,500152,Hypocystinemia,HPO,phenotype,PHENOTYPE_7571
7572,7572,7572,7572,7572,7572,7572,7572,40221,Hypoplasia of the dental root,HPO,phenotype,PHENOTYPE_7572
7573,7573,7573,7573,7573,7573,7573,7573,32472,Abnormal urine urobilinogen level,HPO,phenotype,PHENOTYPE_7573
7574,7574,7574,7574,7574,7574,7574,7574,4209,Clinodactyly of the 5th finger,HPO,phenotype,PHENOTYPE_7574
7575,7575,7575,7575,7575,7575,7575,7575,4399,Congenital pyloric atresia,HPO,phenotype,PHENOTYPE_7575
7576,7576,7576,7576,7576,7576,7576,7576,33541,Irreversible airflow obstruction,HPO,phenotype,PHENOTYPE_7576
7577,7577,7577,7577,7577,7577,7577,7577,6000833,Hyperkalemia while symptomatic,HPO,phenotype,PHENOTYPE_7577
7578,7578,7578,7578,7578,7578,7578,7578,32289,Oligoclonal elevation of circulating IgG,HPO,phenotype,PHENOTYPE_7578
7579,7579,7579,7579,7579,7579,7579,7579,32681,Focal aware cognitive seizure,HPO,phenotype,PHENOTYPE_7579
7580,7580,7580,7580,7580,7580,7580,7580,4000116,Carbamazepine exposure,HPO,phenotype,PHENOTYPE_7580
7581,7581,7581,7581,7581,7581,7581,7581,2753,Thin bony cortex,HPO,phenotype,PHENOTYPE_7581
7582,7582,7582,7582,7582,7582,7582,7582,6200,Widened distal phalanges,HPO,phenotype,PHENOTYPE_7582
7583,7583,7583,7583,7583,7583,7583,7583,33543,Addictive nicotine use,HPO,phenotype,PHENOTYPE_7583
7584,7584,7584,7584,7584,7584,7584,7584,2833,Cystic angiomatosis of bone,HPO,phenotype,PHENOTYPE_7584
7585,7585,7585,7585,7585,7585,7585,7585,12487,Cerebellopontine angle arachnoid cyst,HPO,phenotype,PHENOTYPE_7585
7586,7586,7586,7586,7586,7586,7586,7586,7286,Horizontal jerk nystagmus,HPO,phenotype,PHENOTYPE_7586
7587,7587,7587,7587,7587,7587,7587,7587,5597,Congenital alopecia totalis,HPO,phenotype,PHENOTYPE_7587
7588,7588,7588,7588,7588,7588,7588,7588,410342,Increased circulating heparan sulfate level,HPO,phenotype,PHENOTYPE_7588
7589,7589,7589,7589,7589,7589,7589,7589,6000475,Anti-beta fodrin antibody positivity,HPO,phenotype,PHENOTYPE_7589
7590,7590,7590,7590,7590,7590,7590,7590,6498,Aplasia/Hypoplasia of the patella,HPO,phenotype,PHENOTYPE_7590
7591,7591,7591,7591,7591,7591,7591,7591,25076,Abnormal QRS voltage,HPO,phenotype,PHENOTYPE_7591
7592,7592,7592,7592,7592,7592,7592,7592,100320,Rosenthal fibers,HPO,phenotype,PHENOTYPE_7592
7593,7593,7593,7593,7593,7593,7593,7593,32675,Acute cutaneous wound,HPO,phenotype,PHENOTYPE_7593
7594,7594,7594,7594,7594,7594,7594,7594,9178,Symphalangism of middle phalanx of 5th finger,HPO,phenotype,PHENOTYPE_7594
7595,7595,7595,7595,7595,7595,7595,7595,9958,Polydactyly affecting the 3rd finger,HPO,phenotype,PHENOTYPE_7595
7596,7596,7596,7596,7596,7596,7596,7596,162,Glossoptosis,HPO,phenotype,PHENOTYPE_7596
7597,7597,7597,7597,7597,7597,7597,7597,3085,Long fibula,HPO,phenotype,PHENOTYPE_7597
7598,7598,7598,7598,7598,7598,7598,7598,6001048,Lobulated,HPO,phenotype,PHENOTYPE_7598
7599,7599,7599,7599,7599,7599,7599,7599,5200336,Addictive video game use,HPO,phenotype,PHENOTYPE_7599
7600,7600,7600,7600,7600,7600,7600,7600,8019,Superior lens subluxation,HPO,phenotype,PHENOTYPE_7600
7601,7601,7601,7601,7601,7601,7601,7601,10677,Enuresis nocturna,HPO,phenotype,PHENOTYPE_7601
7602,7602,7602,7602,7602,7602,7602,7602,5000020,Anti-LGI1 antibody,HPO,phenotype,PHENOTYPE_7602
7603,7603,7603,7603,7603,7603,7603,7603,3161,4-Hydroxyphenylpyruvic aciduria,HPO,phenotype,PHENOTYPE_7603
7604,7604,7604,7604,7604,7604,7604,7604,3363,Abdominal situs inversus,HPO,phenotype,PHENOTYPE_7604
7605,7605,7605,7605,7605,7605,7605,7605,33553,Septic embolism,HPO,phenotype,PHENOTYPE_7605
7606,7606,7606,7606,7606,7606,7606,7606,31817,Decreased circulating parathyroid hormone level,HPO,phenotype,PHENOTYPE_7606
7607,7607,7607,7607,7607,7607,7607,7607,553,Abnormal uvea morphology,HPO,phenotype,PHENOTYPE_7607
7608,7608,7608,7608,7608,7608,7608,7608,25580,Abnormal right atrium morphology,HPO,phenotype,PHENOTYPE_7608
7609,7609,7609,7609,7609,7609,7609,7609,6473,Anterior bowing of long bones,HPO,phenotype,PHENOTYPE_7609
7610,7610,7610,7610,7610,7610,7610,7610,9305,Distal/middle symphalangism of 4th finger,HPO,phenotype,PHENOTYPE_7610
7611,7611,7611,7611,7611,7611,7611,7611,4692,4-5 toe syndactyly,HPO,phenotype,PHENOTYPE_7611
7612,7612,7612,7612,7612,7612,7612,7612,12045,Retinal flecks,HPO,phenotype,PHENOTYPE_7612
7613,7613,7613,7613,7613,7613,7613,7613,31907,Anti-mitochondrial M2 antibody positivity,HPO,phenotype,PHENOTYPE_7613
7614,7614,7614,7614,7614,7614,7614,7614,6000344,Anti-intrinsic factor antibody positivity,HPO,phenotype,PHENOTYPE_7614
7615,7615,7615,7615,7615,7615,7615,7615,34109,Anti-GW182 antibody positivity,HPO,phenotype,PHENOTYPE_7615
7616,7616,7616,7616,7616,7616,7616,7616,10336,Abnormality of the phalanges of the 4th toe,HPO,phenotype,PHENOTYPE_7616
7617,7617,7617,7617,7617,7617,7617,7617,6000680,Low serum osmolality,HPO,phenotype,PHENOTYPE_7617
7618,7618,7618,7618,7618,7618,7618,7618,4676,Prominent supraorbital arches in adult,HPO,phenotype,PHENOTYPE_7618
7619,7619,7619,7619,7619,7619,7619,7619,5643,Short 3rd toe,HPO,phenotype,PHENOTYPE_7619
7620,7620,7620,7620,7620,7620,7620,7620,33830,Hyperdense pulmonary mass,HPO,phenotype,PHENOTYPE_7620
7621,7621,7621,7621,7621,7621,7621,7621,4233,Advanced ossification of carpal bones,HPO,phenotype,PHENOTYPE_7621
7622,7622,7622,7622,7622,7622,7622,7622,100135,Absent epiphysis of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_7622
7623,7623,7623,7623,7623,7623,7623,7623,356,Abnormality of the outer ear,HPO,phenotype,PHENOTYPE_7623
7624,7624,7624,7624,7624,7624,7624,7624,200113,Aphalangy of hands and feet,HPO,phenotype,PHENOTYPE_7624
7625,7625,7625,7625,7625,7625,7625,7625,31080,Abnormal response to glucagon stimulation test,HPO,phenotype,PHENOTYPE_7625
7626,7626,7626,7626,7626,7626,7626,7626,34876,Decreased urinary metaepinephrine level,HPO,phenotype,PHENOTYPE_7626
7627,7627,7627,7627,7627,7627,7627,7627,33242,Horseshoe lung,HPO,phenotype,PHENOTYPE_7627
7628,7628,7628,7628,7628,7628,7628,7628,40127,Abnormal sweat homeostasis,HPO,phenotype,PHENOTYPE_7628
7629,7629,7629,7629,7629,7629,7629,7629,32621,Hyperchromasia of renal tubular epithelial cells,HPO,phenotype,PHENOTYPE_7629
7630,7630,7630,7630,7630,7630,7630,7630,25289,Cervical lymphadenopathy,HPO,phenotype,PHENOTYPE_7630
7631,7631,7631,7631,7631,7631,7631,7631,33554,Anti-Mi2 antibody positivity,HPO,phenotype,PHENOTYPE_7631
7632,7632,7632,7632,7632,7632,7632,7632,9258,Small epiphysis of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_7632
7633,7633,7633,7633,7633,7633,7633,7633,410226,Increased anti-feather IgE antibody level,HPO,phenotype,PHENOTYPE_7633
7634,7634,7634,7634,7634,7634,7634,7634,33858,Organized thrombi within interlobular vein lumen,HPO,phenotype,PHENOTYPE_7634
7635,7635,7635,7635,7635,7635,7635,7635,10089,Osteolytic defects of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_7635
7636,7636,7636,7636,7636,7636,7636,7636,5517,T-cell lymphoma/leukemia,HPO,phenotype,PHENOTYPE_7636
7637,7637,7637,7637,7637,7637,7637,7637,5200047,Idiosyncratic gesture,HPO,phenotype,PHENOTYPE_7637
7638,7638,7638,7638,7638,7638,7638,7638,10667,Aplasia of the maxilla,HPO,phenotype,PHENOTYPE_7638
7639,7639,7639,7639,7639,7639,7639,7639,10154,Irregular epiphysis of the 1st metatarsal,HPO,phenotype,PHENOTYPE_7639
7640,7640,7640,7640,7640,7640,7640,7640,34074,Increased fetal long bone echogenicity,HPO,phenotype,PHENOTYPE_7640
7641,7641,7641,7641,7641,7641,7641,7641,6715,Glomus tympanicum paraganglioma,HPO,phenotype,PHENOTYPE_7641
7642,7642,7642,7642,7642,7642,7642,7642,1445,Abnormality of the hip-girdle musculature,HPO,phenotype,PHENOTYPE_7642
7643,7643,7643,7643,7643,7643,7643,7643,33754,Abnormal left ventricular end-diastolic volume,HPO,phenotype,PHENOTYPE_7643
7644,7644,7644,7644,7644,7644,7644,7644,32092,Left ventricular outflow tract obstruction,HPO,phenotype,PHENOTYPE_7644
7645,7645,7645,7645,7645,7645,7645,7645,11958,Retinal perforation,HPO,phenotype,PHENOTYPE_7645
7646,7646,7646,7646,7646,7646,7646,7646,4964,Pulmonary arterial medial hypertrophy,HPO,phenotype,PHENOTYPE_7646
7647,7647,7647,7647,7647,7647,7647,7647,30555,Best corrected visual acuity 0.2 LogMAR,HPO,phenotype,PHENOTYPE_7647
7648,7648,7648,7648,7648,7648,7648,7648,5543,Reduced protein C activity,HPO,phenotype,PHENOTYPE_7648
7649,7649,7649,7649,7649,7649,7649,7649,8314,Decreased activity of mitochondrial complex II,HPO,phenotype,PHENOTYPE_7649
7650,7650,7650,7650,7650,7650,7650,7650,25195,Central diaphragmatic hernia,HPO,phenotype,PHENOTYPE_7650
7651,7651,7651,7651,7651,7651,7651,7651,30390,Reduced circulating leukotriene C4 concentration,HPO,phenotype,PHENOTYPE_7651
7652,7652,7652,7652,7652,7652,7652,7652,430014,Abnormality of musculature of soft palate,HPO,phenotype,PHENOTYPE_7652
7653,7653,7653,7653,7653,7653,7653,7653,4828,Refractory anemia with ringed sideroblasts,HPO,phenotype,PHENOTYPE_7653
7654,7654,7654,7654,7654,7654,7654,7654,30753,Intrauterine fetal demise of one twin after midgestation,HPO,phenotype,PHENOTYPE_7654
7655,7655,7655,7655,7655,7655,7655,7655,100301,Muscle fiber tubular inclusions,HPO,phenotype,PHENOTYPE_7655
7656,7656,7656,7656,7656,7656,7656,7656,33279,Enterocutaneous fistula,HPO,phenotype,PHENOTYPE_7656
7657,7657,7657,7657,7657,7657,7657,7657,6000226,Elevated aortic transvalvular pressure gradient,HPO,phenotype,PHENOTYPE_7657
7658,7658,7658,7658,7658,7658,7658,7658,100467,Patchy sclerosis of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_7658
7659,7659,7659,7659,7659,7659,7659,7659,33677,Acute respiratory distress syndrome,HPO,phenotype,PHENOTYPE_7659
7660,7660,7660,7660,7660,7660,7660,7660,811,Abnormal external genitalia morphology,HPO,phenotype,PHENOTYPE_7660
7661,7661,7661,7661,7661,7661,7661,7661,9393,Absent epiphyses of the 4th finger,HPO,phenotype,PHENOTYPE_7661
7662,7662,7662,7662,7662,7662,7662,7662,7344,Atrophy/Degeneration involving the spinal cord,HPO,phenotype,PHENOTYPE_7662
7663,7663,7663,7663,7663,7663,7663,7663,20136,Anticardiolipin IgG antibody positivity,HPO,phenotype,PHENOTYPE_7663
7664,7664,7664,7664,7664,7664,7664,7664,32409,Subcortical band heterotopia,HPO,phenotype,PHENOTYPE_7664
7665,7665,7665,7665,7665,7665,7665,7665,326,Abnormal maxilla morphology,HPO,phenotype,PHENOTYPE_7665
7666,7666,7666,7666,7666,7666,7666,7666,33267,Abnormal glomerular capillary lumen morphology,HPO,phenotype,PHENOTYPE_7666
7667,7667,7667,7667,7667,7667,7667,7667,6149,Increased laxity of fingers,HPO,phenotype,PHENOTYPE_7667
7668,7668,7668,7668,7668,7668,7668,7668,9944,Partial duplication of thumb phalanx,HPO,phenotype,PHENOTYPE_7668
7669,7669,7669,7669,7669,7669,7669,7669,4026,Broad radial metaphysis,HPO,phenotype,PHENOTYPE_7669
7670,7670,7670,7670,7670,7670,7670,7670,2910,Elevated circulating hepatic transaminase concentration,HPO,phenotype,PHENOTYPE_7670
7671,7671,7671,7671,7671,7671,7671,7671,11852,Chylopericardium,HPO,phenotype,PHENOTYPE_7671
7672,7672,7672,7672,7672,7672,7672,7672,34230,Inferior crossed fused renal ectopia,HPO,phenotype,PHENOTYPE_7672
7673,7673,7673,7673,7673,7673,7673,7673,34263,Abnormal vaginal bleeding,HPO,phenotype,PHENOTYPE_7673
7674,7674,7674,7674,7674,7674,7674,7674,30679,Ash-leaf spot,HPO,phenotype,PHENOTYPE_7674
7675,7675,7675,7675,7675,7675,7675,7675,6000284,Tectal plate enlargement,HPO,phenotype,PHENOTYPE_7675
7676,7676,7676,7676,7676,7676,7676,7676,410267,Intestinal hemangioma,HPO,phenotype,PHENOTYPE_7676
7677,7677,7677,7677,7677,7677,7677,7677,31227,Nasopharyngeal teratoma,HPO,phenotype,PHENOTYPE_7677
7678,7678,7678,7678,7678,7678,7678,7678,9940,Asymmetry of the mandible,HPO,phenotype,PHENOTYPE_7678
7679,7679,7679,7679,7679,7679,7679,7679,10106,Aplasia of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_7679
7680,7680,7680,7680,7680,7680,7680,7680,100940,Sclerosis of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_7680
7681,7681,7681,7681,7681,7681,7681,7681,7452,Midface capillary hemangioma,HPO,phenotype,PHENOTYPE_7681
7682,7682,7682,7682,7682,7682,7682,7682,100024,Conspicuously happy disposition,HPO,phenotype,PHENOTYPE_7682
7683,7683,7683,7683,7683,7683,7683,7683,6001036,Left ventricular rupture,HPO,phenotype,PHENOTYPE_7683
7684,7684,7684,7684,7684,7684,7684,7684,20041,Double elevator palsy,HPO,phenotype,PHENOTYPE_7684
7685,7685,7685,7685,7685,7685,7685,7685,11682,Perimembranous ventricular septal defect,HPO,phenotype,PHENOTYPE_7685
7686,7686,7686,7686,7686,7686,7686,7686,31449,Perineal hemangioma,HPO,phenotype,PHENOTYPE_7686
7687,7687,7687,7687,7687,7687,7687,7687,1212,Prominent fingertip pads,HPO,phenotype,PHENOTYPE_7687
7688,7688,7688,7688,7688,7688,7688,7688,4909,Hypokalemic hypochloremic metabolic alkalosis,HPO,phenotype,PHENOTYPE_7688
7689,7689,7689,7689,7689,7689,7689,7689,31188,Genital edema,HPO,phenotype,PHENOTYPE_7689
7690,7690,7690,7690,7690,7690,7690,7690,10478,Abnormality of the urachus,HPO,phenotype,PHENOTYPE_7690
7691,7691,7691,7691,7691,7691,7691,7691,365,Hearing impairment,HPO,phenotype,PHENOTYPE_7691
7692,7692,7692,7692,7692,7692,7692,7692,7406,Hyperpigmentation of eyelids,HPO,phenotype,PHENOTYPE_7692
7693,7693,7693,7693,7693,7693,7693,7693,34120,Anti-GD1a IgM antibody positivity,HPO,phenotype,PHENOTYPE_7693
7694,7694,7694,7694,7694,7694,7694,7694,11435,Low maternal circulating PAPP-A concentration,HPO,phenotype,PHENOTYPE_7694
7695,7695,7695,7695,7695,7695,7695,7695,34612,Elevated urine arabitol level,HPO,phenotype,PHENOTYPE_7695
7696,7696,7696,7696,7696,7696,7696,7696,605,Supranuclear gaze palsy,HPO,phenotype,PHENOTYPE_7696
7697,7697,7697,7697,7697,7697,7697,7697,11811,Impaired touch localization,HPO,phenotype,PHENOTYPE_7697
7698,7698,7698,7698,7698,7698,7698,7698,8360,Neonatal hypoproteinemia,HPO,phenotype,PHENOTYPE_7698
7699,7699,7699,7699,7699,7699,7699,7699,6001113,Elevated circulating methysterol concentration,HPO,phenotype,PHENOTYPE_7699
7700,7700,7700,7700,7700,7700,7700,7700,6000389,Non-glucose reducing substance in urine,HPO,phenotype,PHENOTYPE_7700
7701,7701,7701,7701,7701,7701,7701,7701,9440,Broad phalanges of the 3rd finger,HPO,phenotype,PHENOTYPE_7701
7702,7702,7702,7702,7702,7702,7702,7702,4276,Exostoses of hand bones,HPO,phenotype,PHENOTYPE_7702
7703,7703,7703,7703,7703,7703,7703,7703,10602,Type 2 muscle fiber predominance,HPO,phenotype,PHENOTYPE_7703
7704,7704,7704,7704,7704,7704,7704,7704,11456,Absent stapes,HPO,phenotype,PHENOTYPE_7704
7705,7705,7705,7705,7705,7705,7705,7705,1973,Autoimmune thrombocytopenia,HPO,phenotype,PHENOTYPE_7705
7706,7706,7706,7706,7706,7706,7706,7706,34175,Increased circulating interleukin 27 concentration,HPO,phenotype,PHENOTYPE_7706
7707,7707,7707,7707,7707,7707,7707,7707,11436,Abnormal maternal serum screening,HPO,phenotype,PHENOTYPE_7707
7708,7708,7708,7708,7708,7708,7708,7708,30869,Anorchism,HPO,phenotype,PHENOTYPE_7708
7709,7709,7709,7709,7709,7709,7709,7709,31666,Late systolic murmur,HPO,phenotype,PHENOTYPE_7709
7710,7710,7710,7710,7710,7710,7710,7710,33160,Decreased urinary guanosine level,HPO,phenotype,PHENOTYPE_7710
7711,7711,7711,7711,7711,7711,7711,7711,9884,Tapered distal phalanges of finger,HPO,phenotype,PHENOTYPE_7711
7712,7712,7712,7712,7712,7712,7712,7712,41159,Fractured rib,HPO,phenotype,PHENOTYPE_7712
7713,7713,7713,7713,7713,7713,7713,7713,34487,Increased circulating interleukin 12 concentration,HPO,phenotype,PHENOTYPE_7713
7714,7714,7714,7714,7714,7714,7714,7714,33874,Cortical peritubular capillary lumen organized thrombi,HPO,phenotype,PHENOTYPE_7714
7715,7715,7715,7715,7715,7715,7715,7715,34743,Elevated CSF proline concentration,HPO,phenotype,PHENOTYPE_7715
7716,7716,7716,7716,7716,7716,7716,7716,32672,Autonomic status epilepticus,HPO,phenotype,PHENOTYPE_7716
7717,7717,7717,7717,7717,7717,7717,7717,25367,Trichoepithelioma,HPO,phenotype,PHENOTYPE_7717
7718,7718,7718,7718,7718,7718,7718,7718,500157,Hypoasparaginemia,HPO,phenotype,PHENOTYPE_7718
7719,7719,7719,7719,7719,7719,7719,7719,33538,Aortic annulus calcification,HPO,phenotype,PHENOTYPE_7719
7720,7720,7720,7720,7720,7720,7720,7720,9408,Aplasia/Hypoplasia of the phalanges of the 4th finger,HPO,phenotype,PHENOTYPE_7720
7721,7721,7721,7721,7721,7721,7721,7721,32638,Elevated urine mevalonic acid level,HPO,phenotype,PHENOTYPE_7721
7722,7722,7722,7722,7722,7722,7722,7722,100223,Triangular epiphysis of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_7722
7723,7723,7723,7723,7723,7723,7723,7723,31366,Palate neoplasm,HPO,phenotype,PHENOTYPE_7723
7724,7724,7724,7724,7724,7724,7724,7724,5181,Premature coronary artery atherosclerosis,HPO,phenotype,PHENOTYPE_7724
7725,7725,7725,7725,7725,7725,7725,7725,32610,Tubulointerstitial mycobacterial infiltration,HPO,phenotype,PHENOTYPE_7725
7726,7726,7726,7726,7726,7726,7726,7726,32883,Focal aware cognitive seizure with deja vu/jamais vu,HPO,phenotype,PHENOTYPE_7726
7727,7727,7727,7727,7727,7727,7727,7727,5216,Impaired mastication,HPO,phenotype,PHENOTYPE_7727
7728,7728,7728,7728,7728,7728,7728,7728,32186,Anal neoplasm,HPO,phenotype,PHENOTYPE_7728
7729,7729,7729,7729,7729,7729,7729,7729,4875,Neonatal inspiratory stridor,HPO,phenotype,PHENOTYPE_7729
7730,7730,7730,7730,7730,7730,7730,7730,5322,Prominent nasal septum,HPO,phenotype,PHENOTYPE_7730
7731,7731,7731,7731,7731,7731,7731,7731,2817,Abnormality of the upper limb,HPO,phenotype,PHENOTYPE_7731
7732,7732,7732,7732,7732,7732,7732,7732,33605,Pustular rash,HPO,phenotype,PHENOTYPE_7732
7733,7733,7733,7733,7733,7733,7733,7733,2752,Sparse bone trabeculae,HPO,phenotype,PHENOTYPE_7733
7734,7734,7734,7734,7734,7734,7734,7734,8702,Absent internal genitalia,HPO,phenotype,PHENOTYPE_7734
7735,7735,7735,7735,7735,7735,7735,7735,100055,Absent epiphyses of the 3rd toe,HPO,phenotype,PHENOTYPE_7735
7736,7736,7736,7736,7736,7736,7736,7736,10903,Abnormal circulating glutamine concentration,HPO,phenotype,PHENOTYPE_7736
7737,7737,7737,7737,7737,7737,7737,7737,410308,Decreased specific antibody response to infection,HPO,phenotype,PHENOTYPE_7737
7738,7738,7738,7738,7738,7738,7738,7738,31613,Inferior chorioretinal coloboma,HPO,phenotype,PHENOTYPE_7738
7739,7739,7739,7739,7739,7739,7739,7739,11963,Pretesticular azoospermia,HPO,phenotype,PHENOTYPE_7739
7740,7740,7740,7740,7740,7740,7740,7740,32600,Renal tubular epithelial cell hyaline droplets,HPO,phenotype,PHENOTYPE_7740
7741,7741,7741,7741,7741,7741,7741,7741,32893,Gastroenteritis-related afebrile seizure,HPO,phenotype,PHENOTYPE_7741
7742,7742,7742,7742,7742,7742,7742,7742,3130,Abnormal peripheral myelination,HPO,phenotype,PHENOTYPE_7742
7743,7743,7743,7743,7743,7743,7743,7743,3943,Abnormality of the joint spaces of the elbow,HPO,phenotype,PHENOTYPE_7743
7744,7744,7744,7744,7744,7744,7744,7744,33892,Abnormal renal arteriole intima/media morphology,HPO,phenotype,PHENOTYPE_7744
7745,7745,7745,7745,7745,7745,7745,7745,410358,Decreased high-mannose N-glycan level,HPO,phenotype,PHENOTYPE_7745
7746,7746,7746,7746,7746,7746,7746,7746,31809,Archibald's sign,HPO,phenotype,PHENOTYPE_7746
7747,7747,7747,7747,7747,7747,7747,7747,9031,Amyotrophy of ankle musculature,HPO,phenotype,PHENOTYPE_7747
7748,7748,7748,7748,7748,7748,7748,7748,31941,Abnormal portal venous system morphology,HPO,phenotype,PHENOTYPE_7748
7749,7749,7749,7749,7749,7749,7749,7749,10107,Short proximal phalanx of hallux,HPO,phenotype,PHENOTYPE_7749
7750,7750,7750,7750,7750,7750,7750,7750,30142,Abnormal bowel sounds,HPO,phenotype,PHENOTYPE_7750
7751,7751,7751,7751,7751,7751,7751,7751,12195,Irregular respiration,HPO,phenotype,PHENOTYPE_7751
7752,7752,7752,7752,7752,7752,7752,7752,10091,Symphalangism affecting the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_7752
7753,7753,7753,7753,7753,7753,7753,7753,40040,Toenail onycholysis,HPO,phenotype,PHENOTYPE_7753
7754,7754,7754,7754,7754,7754,7754,7754,100484,Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal,HPO,phenotype,PHENOTYPE_7754
7755,7755,7755,7755,7755,7755,7755,7755,33595,Elevated circulating globotriaosylceramide concentration,HPO,phenotype,PHENOTYPE_7755
7756,7756,7756,7756,7756,7756,7756,7756,25474,Erythematous plaque,HPO,phenotype,PHENOTYPE_7756
7757,7757,7757,7757,7757,7757,7757,7757,25106,Nevus roseus,HPO,phenotype,PHENOTYPE_7757
7758,7758,7758,7758,7758,7758,7758,7758,410057,Increased level of D-threitol in plasma,HPO,phenotype,PHENOTYPE_7758
7759,7759,7759,7759,7759,7759,7759,7759,32796,Focal impaired awareness cognitive seizure with left-right confusion,HPO,phenotype,PHENOTYPE_7759
7760,7760,7760,7760,7760,7760,7760,7760,6593,Anomalous rib insertion to vertebrae,HPO,phenotype,PHENOTYPE_7760
7761,7761,7761,7761,7761,7761,7761,7761,11520,Deuteranomaly,HPO,phenotype,PHENOTYPE_7761
7762,7762,7762,7762,7762,7762,7762,7762,33232,Abnormal glomerular mesangial matrix morphology,HPO,phenotype,PHENOTYPE_7762
7763,7763,7763,7763,7763,7763,7763,7763,32353,Leucinuria,HPO,phenotype,PHENOTYPE_7763
7764,7764,7764,7764,7764,7764,7764,7764,100115,Fragmentation of the epiphysis of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_7764
7765,7765,7765,7765,7765,7765,7765,7765,11984,Atretic gallbladder,HPO,phenotype,PHENOTYPE_7765
7766,7766,7766,7766,7766,7766,7766,7766,32118,Retinitis,HPO,phenotype,PHENOTYPE_7766
7767,7767,7767,7767,7767,7767,7767,7767,32998,Increased cystatin C level,HPO,phenotype,PHENOTYPE_7767
7768,7768,7768,7768,7768,7768,7768,7768,3100,Slender long bone,HPO,phenotype,PHENOTYPE_7768
7769,7769,7769,7769,7769,7769,7769,7769,35002,Reduced epidermal keratin 5 protein expression,HPO,phenotype,PHENOTYPE_7769
7770,7770,7770,7770,7770,7770,7770,7770,9624,Carpometacarpal thumb joint contracture,HPO,phenotype,PHENOTYPE_7770
7771,7771,7771,7771,7771,7771,7771,7771,9003,Increased subcutaneous truncal adipose tissue,HPO,phenotype,PHENOTYPE_7771
7772,7772,7772,7772,7772,7772,7772,7772,5815,Supernumerary ribs,HPO,phenotype,PHENOTYPE_7772
7773,7773,7773,7773,7773,7773,7773,7773,100123,Bracket epiphysis of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_7773
7774,7774,7774,7774,7774,7774,7774,7774,6000675,Elevated urinary mevalonate lactone level,HPO,phenotype,PHENOTYPE_7774
7775,7775,7775,7775,7775,7775,7775,7775,9405,Bullet-shaped phalanges of the 4th finger,HPO,phenotype,PHENOTYPE_7775
7776,7776,7776,7776,7776,7776,7776,7776,5200026,Impaired social imitation,HPO,phenotype,PHENOTYPE_7776
7777,7777,7777,7777,7777,7777,7777,7777,25245,Cutaneous cyst,HPO,phenotype,PHENOTYPE_7777
7778,7778,7778,7778,7778,7778,7778,7778,25213,Triggered by galactose ingestion,HPO,phenotype,PHENOTYPE_7778
7779,7779,7779,7779,7779,7779,7779,7779,30955,Addictive alcohol use,HPO,phenotype,PHENOTYPE_7779
7780,7780,7780,7780,7780,7780,7780,7780,32056,Focal cortical dysplasia type IIIb,HPO,phenotype,PHENOTYPE_7780
7781,7781,7781,7781,7781,7781,7781,7781,100764,Lymphangioma,HPO,phenotype,PHENOTYPE_7781
7782,7782,7782,7782,7782,7782,7782,7782,100456,Osteolytic defects of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_7782
7783,7783,7783,7783,7783,7783,7783,7783,41183,Fractured middle phalanx of manual digit 3,HPO,phenotype,PHENOTYPE_7783
7784,7784,7784,7784,7784,7784,7784,7784,5948,Multiple pulmonary cysts,HPO,phenotype,PHENOTYPE_7784
7785,7785,7785,7785,7785,7785,7785,7785,9858,Triangular shaped proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_7785
7786,7786,7786,7786,7786,7786,7786,7786,7800,Increased axial length of the globe,HPO,phenotype,PHENOTYPE_7786
7787,7787,7787,7787,7787,7787,7787,7787,34867,Positive stool giardia antigen,HPO,phenotype,PHENOTYPE_7787
7788,7788,7788,7788,7788,7788,7788,7788,34216,Fetal cerebellar vermis hemorrhage,HPO,phenotype,PHENOTYPE_7788
7789,7789,7789,7789,7789,7789,7789,7789,6001002,Elevated urinary vanillactic acid level,HPO,phenotype,PHENOTYPE_7789
7790,7790,7790,7790,7790,7790,7790,7790,30404,Glucagonoma,HPO,phenotype,PHENOTYPE_7790
7791,7791,7791,7791,7791,7791,7791,7791,4000019,Anti-BP230 antibody positivity,HPO,phenotype,PHENOTYPE_7791
7792,7792,7792,7792,7792,7792,7792,7792,9231,Patchy sclerosis of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_7792
7793,7793,7793,7793,7793,7793,7793,7793,100858,Dilatation of celiac artery,HPO,phenotype,PHENOTYPE_7793
7794,7794,7794,7794,7794,7794,7794,7794,31799,Decreased circulating apolipoprotein A-I concentration,HPO,phenotype,PHENOTYPE_7794
7795,7795,7795,7795,7795,7795,7795,7795,11750,Neoplasm of the anterior pituitary,HPO,phenotype,PHENOTYPE_7795
7796,7796,7796,7796,7796,7796,7796,7796,500221,Decreased CSF tyrosine concentration,HPO,phenotype,PHENOTYPE_7796
7797,7797,7797,7797,7797,7797,7797,7797,100668,Intestinal duplication,HPO,phenotype,PHENOTYPE_7797
7798,7798,7798,7798,7798,7798,7798,7798,10794,Impaired visuospatial constructive cognition,HPO,phenotype,PHENOTYPE_7798
7799,7799,7799,7799,7799,7799,7799,7799,1260,Dysarthria,HPO,phenotype,PHENOTYPE_7799
7800,7800,7800,7800,7800,7800,7800,7800,5421,Decreased circulating complement C3 concentration,HPO,phenotype,PHENOTYPE_7800
7801,7801,7801,7801,7801,7801,7801,7801,40072,Abnormal forearm bone morphology,HPO,phenotype,PHENOTYPE_7801
7802,7802,7802,7802,7802,7802,7802,7802,40054,Short upper eyelashes,HPO,phenotype,PHENOTYPE_7802
7803,7803,7803,7803,7803,7803,7803,7803,40075,Hypopituitarism,HPO,phenotype,PHENOTYPE_7803
7804,7804,7804,7804,7804,7804,7804,7804,25050,Elevated brain creatine level by MRS,HPO,phenotype,PHENOTYPE_7804
7805,7805,7805,7805,7805,7805,7805,7805,9113,Diaphragmatic weakness,HPO,phenotype,PHENOTYPE_7805
7806,7806,7806,7806,7806,7806,7806,7806,1239,Wrist flexion contracture,HPO,phenotype,PHENOTYPE_7806
7807,7807,7807,7807,7807,7807,7807,7807,200065,Chorioretinal degeneration,HPO,phenotype,PHENOTYPE_7807
7808,7808,7808,7808,7808,7808,7808,7808,33824,Pleural mass,HPO,phenotype,PHENOTYPE_7808
7809,7809,7809,7809,7809,7809,7809,7809,32930,Lacunar halos around chondrocytes,HPO,phenotype,PHENOTYPE_7809
7810,7810,7810,7810,7810,7810,7810,7810,12321,D-2-hydroxyglutaric aciduria,HPO,phenotype,PHENOTYPE_7810
7811,7811,7811,7811,7811,7811,7811,7811,32889,Focal aware sensory seizure with gustatory features,HPO,phenotype,PHENOTYPE_7811
7812,7812,7812,7812,7812,7812,7812,7812,30648,Midperipheral,HPO,phenotype,PHENOTYPE_7812
7813,7813,7813,7813,7813,7813,7813,7813,34776,Elevated blink rate,HPO,phenotype,PHENOTYPE_7813
7814,7814,7814,7814,7814,7814,7814,7814,8717,Unilateral renal atrophy,HPO,phenotype,PHENOTYPE_7814
7815,7815,7815,7815,7815,7815,7815,7815,25746,Diminished urine glutamine level,HPO,phenotype,PHENOTYPE_7815
7816,7816,7816,7816,7816,7816,7816,7816,3909,Cortical subperiosteal resorption of humeral metaphyses,HPO,phenotype,PHENOTYPE_7816
7817,7817,7817,7817,7817,7817,7817,7817,100859,Dilatation of superior mesenteric artery,HPO,phenotype,PHENOTYPE_7817
7818,7818,7818,7818,7818,7818,7818,7818,410012,Abnormal mouth floor morphology,HPO,phenotype,PHENOTYPE_7818
7819,7819,7819,7819,7819,7819,7819,7819,30030,Absent ray,HPO,phenotype,PHENOTYPE_7819
7820,7820,7820,7820,7820,7820,7820,7820,40211,Abnormal skin morphology of the palm,HPO,phenotype,PHENOTYPE_7820
7821,7821,7821,7821,7821,7821,7821,7821,33868,Abnormal medullary peritubular capillary lumen morphology,HPO,phenotype,PHENOTYPE_7821
7822,7822,7822,7822,7822,7822,7822,7822,11859,Punctate keratitis,HPO,phenotype,PHENOTYPE_7822
7823,7823,7823,7823,7823,7823,7823,7823,32995,Decreased pulmonary fissure count,HPO,phenotype,PHENOTYPE_7823
7824,7824,7824,7824,7824,7824,7824,7824,7057,Poor hand-eye coordination,HPO,phenotype,PHENOTYPE_7824
7825,7825,7825,7825,7825,7825,7825,7825,31924,Rope sign,HPO,phenotype,PHENOTYPE_7825
7826,7826,7826,7826,7826,7826,7826,7826,100233,Stippling of the epiphysis of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_7826
7827,7827,7827,7827,7827,7827,7827,7827,100803,Abnormal periungual morphology,HPO,phenotype,PHENOTYPE_7827
7828,7828,7828,7828,7828,7828,7828,7828,30898,Pruritis on abdomen,HPO,phenotype,PHENOTYPE_7828
7829,7829,7829,7829,7829,7829,7829,7829,31733,Reflex tearing,HPO,phenotype,PHENOTYPE_7829
7830,7830,7830,7830,7830,7830,7830,7830,1817,Absent fingernail,HPO,phenotype,PHENOTYPE_7830
7831,7831,7831,7831,7831,7831,7831,7831,5301,Persistent left superior vena cava,HPO,phenotype,PHENOTYPE_7831
7832,7832,7832,7832,7832,7832,7832,7832,3330,Abnormal bone structure,HPO,phenotype,PHENOTYPE_7832
7833,7833,7833,7833,7833,7833,7833,7833,10531,Spinal myoclonus,HPO,phenotype,PHENOTYPE_7833
7834,7834,7834,7834,7834,7834,7834,7834,9250,Absent epiphysis of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_7834
7835,7835,7835,7835,7835,7835,7835,7835,410394,"Increased proportion of effector memory CD4-positive, alpha-beta T cells",HPO,phenotype,PHENOTYPE_7835
7836,7836,7836,7836,7836,7836,7836,7836,7432,Intermittent generalized erythematous papular rash,HPO,phenotype,PHENOTYPE_7836
7837,7837,7837,7837,7837,7837,7837,7837,32563,Dacryocytosis,HPO,phenotype,PHENOTYPE_7837
7838,7838,7838,7838,7838,7838,7838,7838,6000590,Spinal lipoma,HPO,phenotype,PHENOTYPE_7838
7839,7839,7839,7839,7839,7839,7839,7839,10909,Abnormal circulating arginine concentration,HPO,phenotype,PHENOTYPE_7839
7840,7840,7840,7840,7840,7840,7840,7840,32297,Increased circulating IgG3 level,HPO,phenotype,PHENOTYPE_7840
7841,7841,7841,7841,7841,7841,7841,7841,25706,Absent fetal nasal bone,HPO,phenotype,PHENOTYPE_7841
7842,7842,7842,7842,7842,7842,7842,7842,31783,Absent coronary sinus,HPO,phenotype,PHENOTYPE_7842
7843,7843,7843,7843,7843,7843,7843,7843,6000959,Scalp edema,HPO,phenotype,PHENOTYPE_7843
7844,7844,7844,7844,7844,7844,7844,7844,500075,Dissociated horizontal deviation,HPO,phenotype,PHENOTYPE_7844
7845,7845,7845,7845,7845,7845,7845,7845,359,Abnormality of the inner ear,HPO,phenotype,PHENOTYPE_7845
7846,7846,7846,7846,7846,7846,7846,7846,33333,Jaw contracture,HPO,phenotype,PHENOTYPE_7846
7847,7847,7847,7847,7847,7847,7847,7847,30795,Reduced C-peptide level,HPO,phenotype,PHENOTYPE_7847
7848,7848,7848,7848,7848,7848,7848,7848,26,Male hypogonadism,HPO,phenotype,PHENOTYPE_7848
7849,7849,7849,7849,7849,7849,7849,7849,34099,Anti-phosphatidyl inositol antibody positivity,HPO,phenotype,PHENOTYPE_7849
7850,7850,7850,7850,7850,7850,7850,7850,12254,Ewing sarcoma,HPO,phenotype,PHENOTYPE_7850
7851,7851,7851,7851,7851,7851,7851,7851,31124,Decreased platelet thromboxane A2 receptor,HPO,phenotype,PHENOTYPE_7851
7852,7852,7852,7852,7852,7852,7852,7852,33787,Cementum hypoplasia,HPO,phenotype,PHENOTYPE_7852
7853,7853,7853,7853,7853,7853,7853,7853,6000982,Immediate detumescence of penis at time of symptom onset,HPO,phenotype,PHENOTYPE_7853
7854,7854,7854,7854,7854,7854,7854,7854,3980,Pseudarthrosis of the radius,HPO,phenotype,PHENOTYPE_7854
7855,7855,7855,7855,7855,7855,7855,7855,2981,Abnormality of the calf,HPO,phenotype,PHENOTYPE_7855
7856,7856,7856,7856,7856,7856,7856,7856,5832,Dysharmonic delayed bone age,HPO,phenotype,PHENOTYPE_7856
7857,7857,7857,7857,7857,7857,7857,7857,32427,Abnormal HDL3c concentration,HPO,phenotype,PHENOTYPE_7857
7858,7858,7858,7858,7858,7858,7858,7858,6000018,Internal anal sphincter achalasia,HPO,phenotype,PHENOTYPE_7858
7859,7859,7859,7859,7859,7859,7859,7859,12400,Abnormal circulating aldolase concentration,HPO,phenotype,PHENOTYPE_7859
7860,7860,7860,7860,7860,7860,7860,7860,9259,Stippling of the epiphysis of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_7860
7861,7861,7861,7861,7861,7861,7861,7861,4798,Recurrent infection of the gastrointestinal tract,HPO,phenotype,PHENOTYPE_7861
7862,7862,7862,7862,7862,7862,7862,7862,301,Abnormality of facial musculature,HPO,phenotype,PHENOTYPE_7862
7863,7863,7863,7863,7863,7863,7863,7863,30794,Abnormal circulating C-peptide concentration,HPO,phenotype,PHENOTYPE_7863
7864,7864,7864,7864,7864,7864,7864,7864,410269,Labial hemangioma,HPO,phenotype,PHENOTYPE_7864
7865,7865,7865,7865,7865,7865,7865,7865,33732,Advanced sclerotic lupus nephritis,HPO,phenotype,PHENOTYPE_7865
7866,7866,7866,7866,7866,7866,7866,7866,500061,Retinopathy of prematurity zone III,HPO,phenotype,PHENOTYPE_7866
7867,7867,7867,7867,7867,7867,7867,7867,32084,Aortic elastic fiber thinning,HPO,phenotype,PHENOTYPE_7867
7868,7868,7868,7868,7868,7868,7868,7868,271,Abnormality of the face,HPO,phenotype,PHENOTYPE_7868
7869,7869,7869,7869,7869,7869,7869,7869,6001062,Eosinophilic neuronal inclusion bodies,HPO,phenotype,PHENOTYPE_7869
7870,7870,7870,7870,7870,7870,7870,7870,2315,Headache,HPO,phenotype,PHENOTYPE_7870
7871,7871,7871,7871,7871,7871,7871,7871,6001183,Retinal shunt vessels,HPO,phenotype,PHENOTYPE_7871
7872,7872,7872,7872,7872,7872,7872,7872,6001061,Anti-apolipoprotein CII autoantibody positivity,HPO,phenotype,PHENOTYPE_7872
7873,7873,7873,7873,7873,7873,7873,7873,8264,Neutrophil inclusion bodies,HPO,phenotype,PHENOTYPE_7873
7874,7874,7874,7874,7874,7874,7874,7874,33223,Abnormal glomerular parietal epithelial cell morphology,HPO,phenotype,PHENOTYPE_7874
7875,7875,7875,7875,7875,7875,7875,7875,2080,Intention tremor,HPO,phenotype,PHENOTYPE_7875
7876,7876,7876,7876,7876,7876,7876,7876,3981,Broad radius,HPO,phenotype,PHENOTYPE_7876
7877,7877,7877,7877,7877,7877,7877,7877,34142,Anti-nuclear matrix protein-2 antibody positivity,HPO,phenotype,PHENOTYPE_7877
7878,7878,7878,7878,7878,7878,7878,7878,33088,Valinuria,HPO,phenotype,PHENOTYPE_7878
7879,7879,7879,7879,7879,7879,7879,7879,6000023,Lack of sufficient daily physical activity,HPO,phenotype,PHENOTYPE_7879
7880,7880,7880,7880,7880,7880,7880,7880,6409,Progressive leg bowing,HPO,phenotype,PHENOTYPE_7880
7881,7881,7881,7881,7881,7881,7881,7881,500055,Retinopathy of prematurity stage 4b,HPO,phenotype,PHENOTYPE_7881
7882,7882,7882,7882,7882,7882,7882,7882,40096,Neoplasm of the inner ear,HPO,phenotype,PHENOTYPE_7882
7883,7883,7883,7883,7883,7883,7883,7883,430111,Klazomania,HPO,phenotype,PHENOTYPE_7883
7884,7884,7884,7884,7884,7884,7884,7884,6000708,Femoral osteosclerosis,HPO,phenotype,PHENOTYPE_7884
7885,7885,7885,7885,7885,7885,7885,7885,12416,Hypercapnia,HPO,phenotype,PHENOTYPE_7885
7886,7886,7886,7886,7886,7886,7886,7886,5200218,Derealization,HPO,phenotype,PHENOTYPE_7886
7887,7887,7887,7887,7887,7887,7887,7887,8480,Cervical spondylosis,HPO,phenotype,PHENOTYPE_7887
7888,7888,7888,7888,7888,7888,7888,7888,7156,Asymmetric limb muscle stiffness,HPO,phenotype,PHENOTYPE_7888
7889,7889,7889,7889,7889,7889,7889,7889,6677,Prolonged QRS complex,HPO,phenotype,PHENOTYPE_7889
7890,7890,7890,7890,7890,7890,7890,7890,6293,Agenesis of maxillary central incisor,HPO,phenotype,PHENOTYPE_7890
7891,7891,7891,7891,7891,7891,7891,7891,9225,Aplasia of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_7891
7892,7892,7892,7892,7892,7892,7892,7892,6000444,Elevated blood cadmiun concentration,HPO,phenotype,PHENOTYPE_7892
7893,7893,7893,7893,7893,7893,7893,7893,100914,Sclerosis of the 1st metacarpal,HPO,phenotype,PHENOTYPE_7893
7894,7894,7894,7894,7894,7894,7894,7894,33758,Labial abscess,HPO,phenotype,PHENOTYPE_7894
7895,7895,7895,7895,7895,7895,7895,7895,20137,Anticardiolipin IgM antibody positivity,HPO,phenotype,PHENOTYPE_7895
7896,7896,7896,7896,7896,7896,7896,7896,716,Depression,HPO,phenotype,PHENOTYPE_7896
7897,7897,7897,7897,7897,7897,7897,7897,10237,Epiphyseal stippling of finger phalanges,HPO,phenotype,PHENOTYPE_7897
7898,7898,7898,7898,7898,7898,7898,7898,7,Autosomal recessive inheritance,HPO,phenotype,PHENOTYPE_7898
7899,7899,7899,7899,7899,7899,7899,7899,410298,Partial absence of specific antibody response to hepatitis B vaccine,HPO,phenotype,PHENOTYPE_7899
7900,7900,7900,7900,7900,7900,7900,7900,40272,Hyperintensity of MRI T2 signal of the spinal cord,HPO,phenotype,PHENOTYPE_7900
7901,7901,7901,7901,7901,7901,7901,7901,100948,Sclerosis of distal toe phalanx,HPO,phenotype,PHENOTYPE_7901
7902,7902,7902,7902,7902,7902,7902,7902,11200,EEG with generalized polymorphic epileptiform discharges,HPO,phenotype,PHENOTYPE_7902
7903,7903,7903,7903,7903,7903,7903,7903,3000032,Abnormality of central retinal artery,HPO,phenotype,PHENOTYPE_7903
7904,7904,7904,7904,7904,7904,7904,7904,30797,Reduced volume of central subdivision of bed nucleus of stria terminalis,HPO,phenotype,PHENOTYPE_7904
7905,7905,7905,7905,7905,7905,7905,7905,32928,Elevated CSF neurofilament light chain concentration,HPO,phenotype,PHENOTYPE_7905
7906,7906,7906,7906,7906,7906,7906,7906,9966,Complete duplication of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_7906
7907,7907,7907,7907,7907,7907,7907,7907,31675,Fascicular left ventricular tachycardia,HPO,phenotype,PHENOTYPE_7907
7908,7908,7908,7908,7908,7908,7908,7908,7076,Extrapyramidal muscular rigidity,HPO,phenotype,PHENOTYPE_7908
7909,7909,7909,7909,7909,7909,7909,7909,4974,Coarctation of abdominal aorta,HPO,phenotype,PHENOTYPE_7909
7910,7910,7910,7910,7910,7910,7910,7910,100033,Tics,HPO,phenotype,PHENOTYPE_7910
7911,7911,7911,7911,7911,7911,7911,7911,40102,Osseous atresia of the external auditory canal,HPO,phenotype,PHENOTYPE_7911
7912,7912,7912,7912,7912,7912,7912,7912,5490,Postnatal macrocephaly,HPO,phenotype,PHENOTYPE_7912
7913,7913,7913,7913,7913,7913,7913,7913,1510,Growth delay,HPO,phenotype,PHENOTYPE_7913
7914,7914,7914,7914,7914,7914,7914,7914,30081,Punctate periventricular T2 hyperintense foci,HPO,phenotype,PHENOTYPE_7914
7915,7915,7915,7915,7915,7915,7915,7915,33593,Anti-H2A-H2B antibody positivity,HPO,phenotype,PHENOTYPE_7915
7916,7916,7916,7916,7916,7916,7916,7916,5603,Numerous congenital melanocytic nevi,HPO,phenotype,PHENOTYPE_7916
7917,7917,7917,7917,7917,7917,7917,7917,3325,Limb-girdle muscle weakness,HPO,phenotype,PHENOTYPE_7917
7918,7918,7918,7918,7918,7918,7918,7918,169,Gingival fibromatosis,HPO,phenotype,PHENOTYPE_7918
7919,7919,7919,7919,7919,7919,7919,7919,11880,Acute disseminated intravascular coagulation,HPO,phenotype,PHENOTYPE_7919
7920,7920,7920,7920,7920,7920,7920,7920,34384,Elevated circulating insulin:C-peptide ratio,HPO,phenotype,PHENOTYPE_7920
7921,7921,7921,7921,7921,7921,7921,7921,12619,Multiple bladder diverticula,HPO,phenotype,PHENOTYPE_7921
7922,7922,7922,7922,7922,7922,7922,7922,35,Abnormal testis morphology,HPO,phenotype,PHENOTYPE_7922
7923,7923,7923,7923,7923,7923,7923,7923,6564,Fluctuating hepatomegaly,HPO,phenotype,PHENOTYPE_7923
7924,7924,7924,7924,7924,7924,7924,7924,6001153,Pain on the lateral aspect of the foot,HPO,phenotype,PHENOTYPE_7924
7925,7925,7925,7925,7925,7925,7925,7925,11809,Paradoxical myotonia,HPO,phenotype,PHENOTYPE_7925
7926,7926,7926,7926,7926,7926,7926,7926,492,Abnormal eyelid morphology,HPO,phenotype,PHENOTYPE_7926
7927,7927,7927,7927,7927,7927,7927,7927,20045,Esodeviation,HPO,phenotype,PHENOTYPE_7927
7928,7928,7928,7928,7928,7928,7928,7928,3914,Irregular ossification of humeral metaphyses,HPO,phenotype,PHENOTYPE_7928
7929,7929,7929,7929,7929,7929,7929,7929,6000397,CSF oligoclonal immunoglobulin G bands,HPO,phenotype,PHENOTYPE_7929
7930,7930,7930,7930,7930,7930,7930,7930,3015,Flared metaphysis,HPO,phenotype,PHENOTYPE_7930
7931,7931,7931,7931,7931,7931,7931,7931,33877,Arcuate vein intraluminal thrombi,HPO,phenotype,PHENOTYPE_7931
7932,7932,7932,7932,7932,7932,7932,7932,10636,Schizencephaly,HPO,phenotype,PHENOTYPE_7932
7933,7933,7933,7933,7933,7933,7933,7933,25145,Rigors,HPO,phenotype,PHENOTYPE_7933
7934,7934,7934,7934,7934,7934,7934,7934,32700,Focal cognitive seizure with left-right confusion,HPO,phenotype,PHENOTYPE_7934
7935,7935,7935,7935,7935,7935,7935,7935,25084,Folliculitis,HPO,phenotype,PHENOTYPE_7935
7936,7936,7936,7936,7936,7936,7936,7936,4502,Bilateral choanal atresia,HPO,phenotype,PHENOTYPE_7936
7937,7937,7937,7937,7937,7937,7937,7937,5200221,Diminishment of comfort with casual physical contact,HPO,phenotype,PHENOTYPE_7937
7938,7938,7938,7938,7938,7938,7938,7938,2723,Absence of bactericidal oxidative respiratory burst in phagocytes,HPO,phenotype,PHENOTYPE_7938
7939,7939,7939,7939,7939,7939,7939,7939,3000050,Abnormal odontoid tissue morphology,HPO,phenotype,PHENOTYPE_7939
7940,7940,7940,7940,7940,7940,7940,7940,2091,Restrictive ventilatory defect,HPO,phenotype,PHENOTYPE_7940
7941,7941,7941,7941,7941,7941,7941,7941,6000338,Seminal vesicle hypoplasia,HPO,phenotype,PHENOTYPE_7941
7942,7942,7942,7942,7942,7942,7942,7942,46503,Increased libido,HPO,phenotype,PHENOTYPE_7942
7943,7943,7943,7943,7943,7943,7943,7943,33791,Tooth ankylosis,HPO,phenotype,PHENOTYPE_7943
7944,7944,7944,7944,7944,7944,7944,7944,10376,Patchy sclerosis of 4th toe phalanx,HPO,phenotype,PHENOTYPE_7944
7945,7945,7945,7945,7945,7945,7945,7945,1566,Widely-spaced maxillary central incisors,HPO,phenotype,PHENOTYPE_7945
7946,7946,7946,7946,7946,7946,7946,7946,6000425,Truncal location,HPO,phenotype,PHENOTYPE_7946
7947,7947,7947,7947,7947,7947,7947,7947,5302,Carotid artery tortuosity,HPO,phenotype,PHENOTYPE_7947
7948,7948,7948,7948,7948,7948,7948,7948,34666,Shoulder extension contracture,HPO,phenotype,PHENOTYPE_7948
7949,7949,7949,7949,7949,7949,7949,7949,7024,Pseudobulbar paralysis,HPO,phenotype,PHENOTYPE_7949
7950,7950,7950,7950,7950,7950,7950,7950,11437,Maternal autoimmune disease,HPO,phenotype,PHENOTYPE_7950
7951,7951,7951,7951,7951,7951,7951,7951,32440,Blood group B,HPO,phenotype,PHENOTYPE_7951
7952,7952,7952,7952,7952,7952,7952,7952,34950,Typified by complete penetrance,HPO,phenotype,PHENOTYPE_7952
7953,7953,7953,7953,7953,7953,7953,7953,9020,Exercise-induced muscle fatigue,HPO,phenotype,PHENOTYPE_7953
7954,7954,7954,7954,7954,7954,7954,7954,31026,Snail-like ilia,HPO,phenotype,PHENOTYPE_7954
7955,7955,7955,7955,7955,7955,7955,7955,5311,Agenesis of pulmonary vessels,HPO,phenotype,PHENOTYPE_7955
7956,7956,7956,7956,7956,7956,7956,7956,31439,Abnormal angiostatin level,HPO,phenotype,PHENOTYPE_7956
7957,7957,7957,7957,7957,7957,7957,7957,5466,Hypoplasia of the frontal bone,HPO,phenotype,PHENOTYPE_7957
7958,7958,7958,7958,7958,7958,7958,7958,430008,Accessory eyelid,HPO,phenotype,PHENOTYPE_7958
7959,7959,7959,7959,7959,7959,7959,7959,32658,Status epilepticus with prominent motor symptoms,HPO,phenotype,PHENOTYPE_7959
7960,7960,7960,7960,7960,7960,7960,7960,100415,Complete duplication of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_7960
7961,7961,7961,7961,7961,7961,7961,7961,5585,Spotty hyperpigmentation,HPO,phenotype,PHENOTYPE_7961
7962,7962,7962,7962,7962,7962,7962,7962,2266,Focal clonic seizure,HPO,phenotype,PHENOTYPE_7962
7963,7963,7963,7963,7963,7963,7963,7963,807,Glanular hypospadias,HPO,phenotype,PHENOTYPE_7963
7964,7964,7964,7964,7964,7964,7964,7964,12826,Moderate,HPO,phenotype,PHENOTYPE_7964
7965,7965,7965,7965,7965,7965,7965,7965,40261,Increased size of nasopharyngeal adenoids,HPO,phenotype,PHENOTYPE_7965
7966,7966,7966,7966,7966,7966,7966,7966,30542,Unaided visual acuity 0.7 LogMAR,HPO,phenotype,PHENOTYPE_7966
7967,7967,7967,7967,7967,7967,7967,7967,6930,Frontoparietal cortical dysplasia,HPO,phenotype,PHENOTYPE_7967
7968,7968,7968,7968,7968,7968,7968,7968,40213,Hypopnea,HPO,phenotype,PHENOTYPE_7968
7969,7969,7969,7969,7969,7969,7969,7969,32010,Basic constant exotropia,HPO,phenotype,PHENOTYPE_7969
7970,7970,7970,7970,7970,7970,7970,7970,30250,Pulmonary granulomatosis,HPO,phenotype,PHENOTYPE_7970
7971,7971,7971,7971,7971,7971,7971,7971,6000015,Tympanic membrane hypermobility,HPO,phenotype,PHENOTYPE_7971
7972,7972,7972,7972,7972,7972,7972,7972,34387,Bacterial encephalitis,HPO,phenotype,PHENOTYPE_7972
7973,7973,7973,7973,7973,7973,7973,7973,25610,Posterior blepharitis,HPO,phenotype,PHENOTYPE_7973
7974,7974,7974,7974,7974,7974,7974,7974,6501,Aplasia/Hypoplasia of the radius,HPO,phenotype,PHENOTYPE_7974
7975,7975,7975,7975,7975,7975,7975,7975,410254,Cyclic neutropenia in myeloid maturation arrest in bone marrow,HPO,phenotype,PHENOTYPE_7975
7976,7976,7976,7976,7976,7976,7976,7976,6000537,Ecrrine sweat gland predominance,HPO,phenotype,PHENOTYPE_7976
7977,7977,7977,7977,7977,7977,7977,7977,11442,Abnormal central motor function,HPO,phenotype,PHENOTYPE_7977
7978,7978,7978,7978,7978,7978,7978,7978,33042,Abnormal chorion morphology,HPO,phenotype,PHENOTYPE_7978
7979,7979,7979,7979,7979,7979,7979,7979,1250,Seizure,HPO,phenotype,PHENOTYPE_7979
7980,7980,7980,7980,7980,7980,7980,7980,34524,Bloodstream trypomastigotes,HPO,phenotype,PHENOTYPE_7980
7981,7981,7981,7981,7981,7981,7981,7981,1712,Left ventricular hypertrophy,HPO,phenotype,PHENOTYPE_7981
7982,7982,7982,7982,7982,7982,7982,7982,10164,Cone-shaped epiphyses of the toes,HPO,phenotype,PHENOTYPE_7982
7983,7983,7983,7983,7983,7983,7983,7983,7911,Congenital bilateral ptosis,HPO,phenotype,PHENOTYPE_7983
7984,7984,7984,7984,7984,7984,7984,7984,650,Abnormal amplitude of pattern reversal visual evoked potentials,HPO,phenotype,PHENOTYPE_7984
7985,7985,7985,7985,7985,7985,7985,7985,33805,Non-necrotizing granuloma,HPO,phenotype,PHENOTYPE_7985
7986,7986,7986,7986,7986,7986,7986,7986,31343,Jejunal arteriovenous malformation,HPO,phenotype,PHENOTYPE_7986
7987,7987,7987,7987,7987,7987,7987,7987,33031,Hyperpyrexia,HPO,phenotype,PHENOTYPE_7987
7988,7988,7988,7988,7988,7988,7988,7988,34231,Sigmoid kidney,HPO,phenotype,PHENOTYPE_7988
7989,7989,7989,7989,7989,7989,7989,7989,34235,Superior crossed-fused renal ectopia,HPO,phenotype,PHENOTYPE_7989
7990,7990,7990,7990,7990,7990,7990,7990,10974,Abnormal myeloid leukocyte morphology,HPO,phenotype,PHENOTYPE_7990
7991,7991,7991,7991,7991,7991,7991,7991,30241,Hypoplasia of deltoid muscle,HPO,phenotype,PHENOTYPE_7991
7992,7992,7992,7992,7992,7992,7992,7992,1098,Abnormal fundus morphology,HPO,phenotype,PHENOTYPE_7992
7993,7993,7993,7993,7993,7993,7993,7993,34587,Nevus psiloliparus,HPO,phenotype,PHENOTYPE_7993
7994,7994,7994,7994,7994,7994,7994,7994,4272,Cortical thinning of hand bones,HPO,phenotype,PHENOTYPE_7994
7995,7995,7995,7995,7995,7995,7995,7995,34415,Tooth avulsion,HPO,phenotype,PHENOTYPE_7995
7996,7996,7996,7996,7996,7996,7996,7996,11932,Abnormal superior cerebellar peduncle morphology,HPO,phenotype,PHENOTYPE_7996
7997,7997,7997,7997,7997,7997,7997,7997,6001174,Pain at the posterior aspect of the elbow,HPO,phenotype,PHENOTYPE_7997
7998,7998,7998,7998,7998,7998,7998,7998,34506,Gallbladder enlargement,HPO,phenotype,PHENOTYPE_7998
7999,7999,7999,7999,7999,7999,7999,7999,11849,Abnormal bone ossification,HPO,phenotype,PHENOTYPE_7999
8000,8000,8000,8000,8000,8000,8000,8000,33177,Elevated circulating suberic acid concentration,HPO,phenotype,PHENOTYPE_8000
8001,8001,8001,8001,8001,8001,8001,8001,886,Deformed rib cage,HPO,phenotype,PHENOTYPE_8001
8002,8002,8002,8002,8002,8002,8002,8002,32033,Vertical eyelid laxity,HPO,phenotype,PHENOTYPE_8002
8003,8003,8003,8003,8003,8003,8003,8003,30299,Abnormal distal femoral metaphysis morphology,HPO,phenotype,PHENOTYPE_8003
8004,8004,8004,8004,8004,8004,8004,8004,30649,Pericentral,HPO,phenotype,PHENOTYPE_8004
8005,8005,8005,8005,8005,8005,8005,8005,430,Underdeveloped nasal alae,HPO,phenotype,PHENOTYPE_8005
8006,8006,8006,8006,8006,8006,8006,8006,32590,Renal neutrophilic tubulitis,HPO,phenotype,PHENOTYPE_8006
8007,8007,8007,8007,8007,8007,8007,8007,10894,Abnormal circulating serine family amino acid concentration,HPO,phenotype,PHENOTYPE_8007
8008,8008,8008,8008,8008,8008,8008,8008,12373,Abnormal eye physiology,HPO,phenotype,PHENOTYPE_8008
8009,8009,8009,8009,8009,8009,8009,8009,7589,Aplasia cutis congenita on trunk or limbs,HPO,phenotype,PHENOTYPE_8009
8010,8010,8010,8010,8010,8010,8010,8010,31053,Coarctation in the transverse aortic arch,HPO,phenotype,PHENOTYPE_8010
8011,8011,8011,8011,8011,8011,8011,8011,500039,Conjunctival cicatrization,HPO,phenotype,PHENOTYPE_8011
8012,8012,8012,8012,8012,8012,8012,8012,3740,Myotonia with warm-up phenomenon,HPO,phenotype,PHENOTYPE_8012
8013,8013,8013,8013,8013,8013,8013,8013,30188,Tremor by anatomical site,HPO,phenotype,PHENOTYPE_8013
8014,8014,8014,8014,8014,8014,8014,8014,20262,Progressive transformation of germinal centers,HPO,phenotype,PHENOTYPE_8014
8015,8015,8015,8015,8015,8015,8015,8015,6000260,History of recent plant thorn skin puncture,HPO,phenotype,PHENOTYPE_8015
8016,8016,8016,8016,8016,8016,8016,8016,4437,Cranial hyperostosis,HPO,phenotype,PHENOTYPE_8016
8017,8017,8017,8017,8017,8017,8017,8017,45087,Hip joint hypermobility,HPO,phenotype,PHENOTYPE_8017
8018,8018,8018,8018,8018,8018,8018,8018,3016,Metaphyseal widening,HPO,phenotype,PHENOTYPE_8018
8019,8019,8019,8019,8019,8019,8019,8019,4330,Increased skull ossification,HPO,phenotype,PHENOTYPE_8019
8020,8020,8020,8020,8020,8020,8020,8020,12741,Unilateral cryptorchidism,HPO,phenotype,PHENOTYPE_8020
8021,8021,8021,8021,8021,8021,8021,8021,30362,Reduced muscle carnitine level,HPO,phenotype,PHENOTYPE_8021
8022,8022,8022,8022,8022,8022,8022,8022,399,Prelingual sensorineural hearing impairment,HPO,phenotype,PHENOTYPE_8022
8023,8023,8023,8023,8023,8023,8023,8023,25131,Finger swelling,HPO,phenotype,PHENOTYPE_8023
8024,8024,8024,8024,8024,8024,8024,8024,12154,Anhedonia,HPO,phenotype,PHENOTYPE_8024
8025,8025,8025,8025,8025,8025,8025,8025,10913,Hyperisoleucinemia,HPO,phenotype,PHENOTYPE_8025
8026,8026,8026,8026,8026,8026,8026,8026,30990,Pleomorphic cholangitis,HPO,phenotype,PHENOTYPE_8026
8027,8027,8027,8027,8027,8027,8027,8027,1685,Myocardial fibrosis,HPO,phenotype,PHENOTYPE_8027
8028,8028,8028,8028,8028,8028,8028,8028,5386,Recurrent protozoan infections,HPO,phenotype,PHENOTYPE_8028
8029,8029,8029,8029,8029,8029,8029,8029,422,Abnormal nasal bridge morphology,HPO,phenotype,PHENOTYPE_8029
8030,8030,8030,8030,8030,8030,8030,8030,100888,Interdigital loops,HPO,phenotype,PHENOTYPE_8030
8031,8031,8031,8031,8031,8031,8031,8031,12832,Bilateral,HPO,phenotype,PHENOTYPE_8031
8032,8032,8032,8032,8032,8032,8032,8032,5321,Mandibulofacial dysostosis,HPO,phenotype,PHENOTYPE_8032
8033,8033,8033,8033,8033,8033,8033,8033,6000734,Positive synovial mycobacterial culture,HPO,phenotype,PHENOTYPE_8033
8034,8034,8034,8034,8034,8034,8034,8034,33814,Paraseptal,HPO,phenotype,PHENOTYPE_8034
8035,8035,8035,8035,8035,8035,8035,8035,32635,Tubulointerstitial microganismal infiltration,HPO,phenotype,PHENOTYPE_8035
8036,8036,8036,8036,8036,8036,8036,8036,3527,Hyperprostaglandinuria,HPO,phenotype,PHENOTYPE_8036
8037,8037,8037,8037,8037,8037,8037,8037,11178,Alpha-EEG,HPO,phenotype,PHENOTYPE_8037
8038,8038,8038,8038,8038,8038,8038,8038,10660,Abnormal hand bone ossification,HPO,phenotype,PHENOTYPE_8038
8039,8039,8039,8039,8039,8039,8039,8039,10133,Ivory epiphysis of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_8039
8040,8040,8040,8040,8040,8040,8040,8040,33243,Pulmonary necrosis,HPO,phenotype,PHENOTYPE_8040
8041,8041,8041,8041,8041,8041,8041,8041,20148,Increased circulating mead acid level,HPO,phenotype,PHENOTYPE_8041
8042,8042,8042,8042,8042,8042,8042,8042,40323,Eyelid erythema,HPO,phenotype,PHENOTYPE_8042
8043,8043,8043,8043,8043,8043,8043,8043,2716,Lymphadenopathy,HPO,phenotype,PHENOTYPE_8043
8044,8044,8044,8044,8044,8044,8044,8044,30408,Pineoblastoma,HPO,phenotype,PHENOTYPE_8044
8045,8045,8045,8045,8045,8045,8045,8045,430098,CD45 expression,HPO,phenotype,PHENOTYPE_8045
8046,8046,8046,8046,8046,8046,8046,8046,10188,Curved distal toe phalanx,HPO,phenotype,PHENOTYPE_8046
8047,8047,8047,8047,8047,8047,8047,8047,25721,Limited vertical extraocular movement,HPO,phenotype,PHENOTYPE_8047
8048,8048,8048,8048,8048,8048,8048,8048,40218,Reduced natural killer cell count,HPO,phenotype,PHENOTYPE_8048
8049,8049,8049,8049,8049,8049,8049,8049,100084,Pseudoepiphyses of the 5th toe,HPO,phenotype,PHENOTYPE_8049
8050,8050,8050,8050,8050,8050,8050,8050,3000072,Abnormal levator palpebrae superioris morphology,HPO,phenotype,PHENOTYPE_8050
8051,8051,8051,8051,8051,8051,8051,8051,6000809,Thickened tibial cortex,HPO,phenotype,PHENOTYPE_8051
8052,8052,8052,8052,8052,8052,8052,8052,40025,Clinodactyly of the 4th finger,HPO,phenotype,PHENOTYPE_8052
8053,8053,8053,8053,8053,8053,8053,8053,6000765,Decreased CSF N-acetyl-aspartyl-glutamate concentration,HPO,phenotype,PHENOTYPE_8053
8054,8054,8054,8054,8054,8054,8054,8054,410223,Increased anti-dust mite IgE antibody level,HPO,phenotype,PHENOTYPE_8054
8055,8055,8055,8055,8055,8055,8055,8055,9390,Small epiphyses of the 5th finger,HPO,phenotype,PHENOTYPE_8055
8056,8056,8056,8056,8056,8056,8056,8056,430067,Positive bloodstream nucleic acid pathogen test,HPO,phenotype,PHENOTYPE_8056
8057,8057,8057,8057,8057,8057,8057,8057,34411,Angiokeratoma of Mibelli,HPO,phenotype,PHENOTYPE_8057
8058,8058,8058,8058,8058,8058,8058,8058,40410,History of vasectomy,HPO,phenotype,PHENOTYPE_8058
8059,8059,8059,8059,8059,8059,8059,8059,410295,Complete or near-complete absence of specific antibody response to tetanus vaccine,HPO,phenotype,PHENOTYPE_8059
8060,8060,8060,8060,8060,8060,8060,8060,34901,Increased circulating vitamin E concentration,HPO,phenotype,PHENOTYPE_8060
8061,8061,8061,8061,8061,8061,8061,8061,996,Facial capillary hemangioma,HPO,phenotype,PHENOTYPE_8061
8062,8062,8062,8062,8062,8062,8062,8062,10869,Asynergia,HPO,phenotype,PHENOTYPE_8062
8063,8063,8063,8063,8063,8063,8063,8063,31618,Anterior chamber flare grade 1+,HPO,phenotype,PHENOTYPE_8063
8064,8064,8064,8064,8064,8064,8064,8064,11792,Neoplasm by histology,HPO,phenotype,PHENOTYPE_8064
8065,8065,8065,8065,8065,8065,8065,8065,6355,Agenesis of mandibular central incisor,HPO,phenotype,PHENOTYPE_8065
8066,8066,8066,8066,8066,8066,8066,8066,30291,Lower-limb metaphyseal irregularity,HPO,phenotype,PHENOTYPE_8066
8067,8067,8067,8067,8067,8067,8067,8067,100383,Aplasia of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_8067
8068,8068,8068,8068,8068,8068,8068,8068,40081,Abnormal circulating creatine kinase concentration,HPO,phenotype,PHENOTYPE_8068
8069,8069,8069,8069,8069,8069,8069,8069,8738,Partially duplicated kidney,HPO,phenotype,PHENOTYPE_8069
8070,8070,8070,8070,8070,8070,8070,8070,31330,Perivascular myocardial immune cell infiltration,HPO,phenotype,PHENOTYPE_8070
8071,8071,8071,8071,8071,8071,8071,8071,200124,Chronic hepatitis due to cryptosporidium infection,HPO,phenotype,PHENOTYPE_8071
8072,8072,8072,8072,8072,8072,8072,8072,20048,Reduced bone-marrow pro-B cell count,HPO,phenotype,PHENOTYPE_8072
8073,8073,8073,8073,8073,8073,8073,8073,12672,Akinetic mutism,HPO,phenotype,PHENOTYPE_8073
8074,8074,8074,8074,8074,8074,8074,8074,9499,Abnormality of the epiphysis of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_8074
8075,8075,8075,8075,8075,8075,8075,8075,34833,Cardiac lipoma,HPO,phenotype,PHENOTYPE_8075
8076,8076,8076,8076,8076,8076,8076,8076,34845,Fetal procarbazine exposure,HPO,phenotype,PHENOTYPE_8076
8077,8077,8077,8077,8077,8077,8077,8077,1667,Right ventricular hypertrophy,HPO,phenotype,PHENOTYPE_8077
8078,8078,8078,8078,8078,8078,8078,8078,32415,Parasagittal parieto-occipital polymicrogyria,HPO,phenotype,PHENOTYPE_8078
8079,8079,8079,8079,8079,8079,8079,8079,11788,Increased circulating free T3,HPO,phenotype,PHENOTYPE_8079
8080,8080,8080,8080,8080,8080,8080,8080,12234,Agranulocytosis,HPO,phenotype,PHENOTYPE_8080
8081,8081,8081,8081,8081,8081,8081,8081,12601,Hypochloriduria,HPO,phenotype,PHENOTYPE_8081
8082,8082,8082,8082,8082,8082,8082,8082,6000010,Linear Hyperpigmentation along Blaschko's lines,HPO,phenotype,PHENOTYPE_8082
8083,8083,8083,8083,8083,8083,8083,8083,30444,Anal margin melanoma,HPO,phenotype,PHENOTYPE_8083
8084,8084,8084,8084,8084,8084,8084,8084,34269,Abnormal vaginal discharge,HPO,phenotype,PHENOTYPE_8084
8085,8085,8085,8085,8085,8085,8085,8085,32456,Unlayered lissencephaly,HPO,phenotype,PHENOTYPE_8085
8086,8086,8086,8086,8086,8086,8086,8086,33041,Cytokine storm,HPO,phenotype,PHENOTYPE_8086
8087,8087,8087,8087,8087,8087,8087,8087,1757,High-frequency sensorineural hearing impairment,HPO,phenotype,PHENOTYPE_8087
8088,8088,8088,8088,8088,8088,8088,8088,6000777,Posterior vertebral body notching,HPO,phenotype,PHENOTYPE_8088
8089,8089,8089,8089,8089,8089,8089,8089,30279,Hypoplastic L5 vertebral pedicle,HPO,phenotype,PHENOTYPE_8089
8090,8090,8090,8090,8090,8090,8090,8090,34298,Elevated circulating hexacosanoic acid concentration,HPO,phenotype,PHENOTYPE_8090
8091,8091,8091,8091,8091,8091,8091,8091,7943,Congenital stapes ankylosis,HPO,phenotype,PHENOTYPE_8091
8092,8092,8092,8092,8092,8092,8092,8092,12711,Delayed ossification of vertebral epiphysis,HPO,phenotype,PHENOTYPE_8092
8093,8093,8093,8093,8093,8093,8093,8093,10229,Bracket epiphyses of the phalanges of the hand,HPO,phenotype,PHENOTYPE_8093
8094,8094,8094,8094,8094,8094,8094,8094,410011,Abnormality of masticatory muscle,HPO,phenotype,PHENOTYPE_8094
8095,8095,8095,8095,8095,8095,8095,8095,10821,Focal emotional seizure with laughing,HPO,phenotype,PHENOTYPE_8095
8096,8096,8096,8096,8096,8096,8096,8096,505,Visual impairment,HPO,phenotype,PHENOTYPE_8096
8097,8097,8097,8097,8097,8097,8097,8097,33772,Abnormal RV/TLC ratio,HPO,phenotype,PHENOTYPE_8097
8098,8098,8098,8098,8098,8098,8098,8098,2461,Cerebellar dentate nucleus calcification,HPO,phenotype,PHENOTYPE_8098
8099,8099,8099,8099,8099,8099,8099,8099,31089,Palatal edema,HPO,phenotype,PHENOTYPE_8099
8100,8100,8100,8100,8100,8100,8100,8100,32173,Continuous diaphragm sign,HPO,phenotype,PHENOTYPE_8100
8101,8101,8101,8101,8101,8101,8101,8101,5469,Flat occiput,HPO,phenotype,PHENOTYPE_8101
8102,8102,8102,8102,8102,8102,8102,8102,33247,Pulmonary amyloidosis,HPO,phenotype,PHENOTYPE_8102
8103,8103,8103,8103,8103,8103,8103,8103,6572,Subacute progressive viral hepatitis,HPO,phenotype,PHENOTYPE_8103
8104,8104,8104,8104,8104,8104,8104,8104,8696,Renal hamartoma,HPO,phenotype,PHENOTYPE_8104
8105,8105,8105,8105,8105,8105,8105,8105,11872,Impaired thrombin-induced platelet aggregation,HPO,phenotype,PHENOTYPE_8105
8106,8106,8106,8106,8106,8106,8106,8106,1067,Neurofibroma,HPO,phenotype,PHENOTYPE_8106
8107,8107,8107,8107,8107,8107,8107,8107,1807,Ridged nail,HPO,phenotype,PHENOTYPE_8107
8108,8108,8108,8108,8108,8108,8108,8108,4000163,Reduced phytanic acid oxidase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_8108
8109,8109,8109,8109,8109,8109,8109,8109,32665,Repeated focal motor seizures,HPO,phenotype,PHENOTYPE_8109
8110,8110,8110,8110,8110,8110,8110,8110,100602,Preeclampsia,HPO,phenotype,PHENOTYPE_8110
8111,8111,8111,8111,8111,8111,8111,8111,10477,Aplasia of the bladder,HPO,phenotype,PHENOTYPE_8111
8112,8112,8112,8112,8112,8112,8112,8112,4358,Abnormality of superoxide metabolism,HPO,phenotype,PHENOTYPE_8112
8113,8113,8113,8113,8113,8113,8113,8113,34696,Intramuscular lipoma,HPO,phenotype,PHENOTYPE_8113
8114,8114,8114,8114,8114,8114,8114,8114,30425,Calcified ovarian cyst,HPO,phenotype,PHENOTYPE_8114
8115,8115,8115,8115,8115,8115,8115,8115,30979,Dilatation of large choroidal vessels,HPO,phenotype,PHENOTYPE_8115
8116,8116,8116,8116,8116,8116,8116,8116,6000835,Positive CSF mycobacterial culture,HPO,phenotype,PHENOTYPE_8116
8117,8117,8117,8117,8117,8117,8117,8117,7727,Opacification of the corneal epithelium,HPO,phenotype,PHENOTYPE_8117
8118,8118,8118,8118,8118,8118,8118,8118,6000283,Elevated urinary saccharopine level,HPO,phenotype,PHENOTYPE_8118
8119,8119,8119,8119,8119,8119,8119,8119,6000838,Positive fecal cryptosporidium antigen test,HPO,phenotype,PHENOTYPE_8119
8120,8120,8120,8120,8120,8120,8120,8120,34679,Forefoot supination contracture,HPO,phenotype,PHENOTYPE_8120
8121,8121,8121,8121,8121,8121,8121,8121,30207,Paradoxical respiration,HPO,phenotype,PHENOTYPE_8121
8122,8122,8122,8122,8122,8122,8122,8122,3450,Axonal regeneration,HPO,phenotype,PHENOTYPE_8122
8123,8123,8123,8123,8123,8123,8123,8123,9099,Median cleft palate,HPO,phenotype,PHENOTYPE_8123
8124,8124,8124,8124,8124,8124,8124,8124,7936,Restrictive external ophthalmoplegia,HPO,phenotype,PHENOTYPE_8124
8125,8125,8125,8125,8125,8125,8125,8125,10801,Underdeveloped nasolabial fold,HPO,phenotype,PHENOTYPE_8125
8126,8126,8126,8126,8126,8126,8126,8126,11517,Cone monochromacy,HPO,phenotype,PHENOTYPE_8126
8127,8127,8127,8127,8127,8127,8127,8127,34218,Fetal intraventricular hemorrhage with ventriculomegaly,HPO,phenotype,PHENOTYPE_8127
8128,8128,8128,8128,8128,8128,8128,8128,400007,Polymenorrhea,HPO,phenotype,PHENOTYPE_8128
8129,8129,8129,8129,8129,8129,8129,8129,6001074,Longitudinal erythronychia,HPO,phenotype,PHENOTYPE_8129
8130,8130,8130,8130,8130,8130,8130,8130,4268,Osteoarthritis of the small joints of the hand,HPO,phenotype,PHENOTYPE_8130
8131,8131,8131,8131,8131,8131,8131,8131,40303,Decreased circulating iron concentration,HPO,phenotype,PHENOTYPE_8131
8132,8132,8132,8132,8132,8132,8132,8132,2526,Deficit in nonword repetition,HPO,phenotype,PHENOTYPE_8132
8133,8133,8133,8133,8133,8133,8133,8133,11420,Age of death,HPO,phenotype,PHENOTYPE_8133
8134,8134,8134,8134,8134,8134,8134,8134,30635,Retinal dystrophy with early macular involvement,HPO,phenotype,PHENOTYPE_8134
8135,8135,8135,8135,8135,8135,8135,8135,582,Upslanted palpebral fissure,HPO,phenotype,PHENOTYPE_8135
8136,8136,8136,8136,8136,8136,8136,8136,111,Renal juxtaglomerular cell hypertrophy/hyperplasia,HPO,phenotype,PHENOTYPE_8136
8137,8137,8137,8137,8137,8137,8137,8137,31974,Increased vertical cup-to-disc ratio - 0.6,HPO,phenotype,PHENOTYPE_8137
8138,8138,8138,8138,8138,8138,8138,8138,8125,Second metatarsal posteriorly placed,HPO,phenotype,PHENOTYPE_8138
8139,8139,8139,8139,8139,8139,8139,8139,33979,Excessive dynamic airway collapse,HPO,phenotype,PHENOTYPE_8139
8140,8140,8140,8140,8140,8140,8140,8140,12766,Widened cerebral subarachnoid space,HPO,phenotype,PHENOTYPE_8140
8141,8141,8141,8141,8141,8141,8141,8141,2721,Immunodeficiency,HPO,phenotype,PHENOTYPE_8141
8142,8142,8142,8142,8142,8142,8142,8142,3454,Platelet antibody positive,HPO,phenotype,PHENOTYPE_8142
8143,8143,8143,8143,8143,8143,8143,8143,10452,Ectopia of the spleen,HPO,phenotype,PHENOTYPE_8143
8144,8144,8144,8144,8144,8144,8144,8144,519,Developmental cataract,HPO,phenotype,PHENOTYPE_8144
8145,8145,8145,8145,8145,8145,8145,8145,200127,Atrial cardiomyopathy,HPO,phenotype,PHENOTYPE_8145
8146,8146,8146,8146,8146,8146,8146,8146,6000396,Elevated CSF guanidinoacetic acid concentration,HPO,phenotype,PHENOTYPE_8146
8147,8147,8147,8147,8147,8147,8147,8147,33095,Increased sulfur amino acid level in urine,HPO,phenotype,PHENOTYPE_8147
8148,8148,8148,8148,8148,8148,8148,8148,32692,Focal cognitive seizure with forced thinking,HPO,phenotype,PHENOTYPE_8148
8149,8149,8149,8149,8149,8149,8149,8149,45074,Thin eyebrow,HPO,phenotype,PHENOTYPE_8149
8150,8150,8150,8150,8150,8150,8150,8150,30956,Abnormality of cardiovascular system electrophysiology,HPO,phenotype,PHENOTYPE_8150
8151,8151,8151,8151,8151,8151,8151,8151,1984,Intolerance to protein,HPO,phenotype,PHENOTYPE_8151
8152,8152,8152,8152,8152,8152,8152,8152,4955,Generalized arterial tortuosity,HPO,phenotype,PHENOTYPE_8152
8153,8153,8153,8153,8153,8153,8153,8153,6000977,Muscle vacuoles,HPO,phenotype,PHENOTYPE_8153
8154,8154,8154,8154,8154,8154,8154,8154,5200337,Compulsive stealing,HPO,phenotype,PHENOTYPE_8154
8155,8155,8155,8155,8155,8155,8155,8155,30661,Vitreous snowballs,HPO,phenotype,PHENOTYPE_8155
8156,8156,8156,8156,8156,8156,8156,8156,25489,Bladder duplication,HPO,phenotype,PHENOTYPE_8156
8157,8157,8157,8157,8157,8157,8157,8157,9130,Hand muscle atrophy,HPO,phenotype,PHENOTYPE_8157
8158,8158,8158,8158,8158,8158,8158,8158,30615,Foveal photoreceptor outer segment loss on macular OCT,HPO,phenotype,PHENOTYPE_8158
8159,8159,8159,8159,8159,8159,8159,8159,6000576,Reduced tissue mannosyl-oligosaccharide glucosidase activity,HPO,phenotype,PHENOTYPE_8159
8160,8160,8160,8160,8160,8160,8160,8160,5916,Abnormal metacarpal morphology,HPO,phenotype,PHENOTYPE_8160
8161,8161,8161,8161,8161,8161,8161,8161,9824,Upper limb undergrowth,HPO,phenotype,PHENOTYPE_8161
8162,8162,8162,8162,8162,8162,8162,8162,868,Decreased fertility in females,HPO,phenotype,PHENOTYPE_8162
8163,8163,8163,8163,8163,8163,8163,8163,9308,Symphalangism of middle phalanx of 4th finger,HPO,phenotype,PHENOTYPE_8163
8164,8164,8164,8164,8164,8164,8164,8164,32410,Bilateral generalized polymicrogyria,HPO,phenotype,PHENOTYPE_8164
8165,8165,8165,8165,8165,8165,8165,8165,33208,Alveolar capillary dysplasia,HPO,phenotype,PHENOTYPE_8165
8166,8166,8166,8166,8166,8166,8166,8166,11403,Abnormal umbilical cord blood vessel morphology,HPO,phenotype,PHENOTYPE_8166
8167,8167,8167,8167,8167,8167,8167,8167,12231,Exudative retinal detachment,HPO,phenotype,PHENOTYPE_8167
8168,8168,8168,8168,8168,8168,8168,8168,41246,Fractured sternum,HPO,phenotype,PHENOTYPE_8168
8169,8169,8169,8169,8169,8169,8169,8169,100725,Lichenification,HPO,phenotype,PHENOTYPE_8169
8170,8170,8170,8170,8170,8170,8170,8170,430108,Positive Mycobacterium avium sputum culture,HPO,phenotype,PHENOTYPE_8170
8171,8171,8171,8171,8171,8171,8171,8171,34088,Anti-Ku antibody positivity,HPO,phenotype,PHENOTYPE_8171
8172,8172,8172,8172,8172,8172,8172,8172,1408,Bile duct proliferation,HPO,phenotype,PHENOTYPE_8172
8173,8173,8173,8173,8173,8173,8173,8173,34427,Purulent eye discharge,HPO,phenotype,PHENOTYPE_8173
8174,8174,8174,8174,8174,8174,8174,8174,11726,Persistent fetal circulation,HPO,phenotype,PHENOTYPE_8174
8175,8175,8175,8175,8175,8175,8175,8175,10755,Asymmetry of the maxilla,HPO,phenotype,PHENOTYPE_8175
8176,8176,8176,8176,8176,8176,8176,8176,6855,Cerebellar vermis atrophy,HPO,phenotype,PHENOTYPE_8176
8177,8177,8177,8177,8177,8177,8177,8177,6989,Dysplastic corpus callosum,HPO,phenotype,PHENOTYPE_8177
8178,8178,8178,8178,8178,8178,8178,8178,25209,Triggered by fructose ingestion,HPO,phenotype,PHENOTYPE_8178
8179,8179,8179,8179,8179,8179,8179,8179,32266,CSF anti-NMDA receptor antibody positivity,HPO,phenotype,PHENOTYPE_8179
8180,8180,8180,8180,8180,8180,8180,8180,8768,Abnormal sexual behavior,HPO,phenotype,PHENOTYPE_8180
8181,8181,8181,8181,8181,8181,8181,8181,1960,Hypokalemic metabolic alkalosis,HPO,phenotype,PHENOTYPE_8181
8182,8182,8182,8182,8182,8182,8182,8182,32653,Elevated lactate:pyruvate ratio,HPO,phenotype,PHENOTYPE_8182
8183,8183,8183,8183,8183,8183,8183,8183,253,Progressive microcephaly,HPO,phenotype,PHENOTYPE_8183
8184,8184,8184,8184,8184,8184,8184,8184,6277,Pancreatic hyperplasia,HPO,phenotype,PHENOTYPE_8184
8185,8185,8185,8185,8185,8185,8185,8185,30881,Shoulder impingement,HPO,phenotype,PHENOTYPE_8185
8186,8186,8186,8186,8186,8186,8186,8186,6000137,Enlarged lunula,HPO,phenotype,PHENOTYPE_8186
8187,8187,8187,8187,8187,8187,8187,8187,3332,Absent primary metaphyseal spongiosa,HPO,phenotype,PHENOTYPE_8187
8188,8188,8188,8188,8188,8188,8188,8188,11534,Abnormal spatial orientation of the cardiac segments,HPO,phenotype,PHENOTYPE_8188
8189,8189,8189,8189,8189,8189,8189,8189,6000549,Positive CSF arbovirus nucleic acid test,HPO,phenotype,PHENOTYPE_8189
8190,8190,8190,8190,8190,8190,8190,8190,20248,Irregularly shaped lymph node germinal centers,HPO,phenotype,PHENOTYPE_8190
8191,8191,8191,8191,8191,8191,8191,8191,2553,Highly arched eyebrow,HPO,phenotype,PHENOTYPE_8191
8192,8192,8192,8192,8192,8192,8192,8192,25579,Abnormal left atrium morphology,HPO,phenotype,PHENOTYPE_8192
8193,8193,8193,8193,8193,8193,8193,8193,33471,10-minute APGAR score of 3,HPO,phenotype,PHENOTYPE_8193
8194,8194,8194,8194,8194,8194,8194,8194,31784,Abnormal ascending aorta morphology,HPO,phenotype,PHENOTYPE_8194
8195,8195,8195,8195,8195,8195,8195,8195,804,Xanthine nephrolithiasis,HPO,phenotype,PHENOTYPE_8195
8196,8196,8196,8196,8196,8196,8196,8196,6000915,Dysorthography,HPO,phenotype,PHENOTYPE_8196
8197,8197,8197,8197,8197,8197,8197,8197,5789,Generalized osteosclerosis,HPO,phenotype,PHENOTYPE_8197
8198,8198,8198,8198,8198,8198,8198,8198,7108,Demyelinating peripheral neuropathy,HPO,phenotype,PHENOTYPE_8198
8199,8199,8199,8199,8199,8199,8199,8199,4296,Abnormal gastrointestinal vascular morphology,HPO,phenotype,PHENOTYPE_8199
8200,8200,8200,8200,8200,8200,8200,8200,34229,Distal aortic arch hypoplasia,HPO,phenotype,PHENOTYPE_8200
8201,8201,8201,8201,8201,8201,8201,8201,6000669,Glomerular PLA2R immune-complex deposition,HPO,phenotype,PHENOTYPE_8201
8202,8202,8202,8202,8202,8202,8202,8202,2696,Abnormal parietal bone morphology,HPO,phenotype,PHENOTYPE_8202
8203,8203,8203,8203,8203,8203,8203,8203,32378,Immediate-type hypersensitivity drug reaction,HPO,phenotype,PHENOTYPE_8203
8204,8204,8204,8204,8204,8204,8204,8204,100723,Gastrointestinal stroma tumor,HPO,phenotype,PHENOTYPE_8204
8205,8205,8205,8205,8205,8205,8205,8205,100583,Corneal perforation,HPO,phenotype,PHENOTYPE_8205
8206,8206,8206,8206,8206,8206,8206,8206,5200201,Gustatory hallucination,HPO,phenotype,PHENOTYPE_8206
8207,8207,8207,8207,8207,8207,8207,8207,5483,Abnormal epiglottis morphology,HPO,phenotype,PHENOTYPE_8207
8208,8208,8208,8208,8208,8208,8208,8208,10760,Absent toe,HPO,phenotype,PHENOTYPE_8208
8209,8209,8209,8209,8209,8209,8209,8209,11897,Neutrophilia,HPO,phenotype,PHENOTYPE_8209
8210,8210,8210,8210,8210,8210,8210,8210,10494,Acromelia of the lower limbs,HPO,phenotype,PHENOTYPE_8210
8211,8211,8211,8211,8211,8211,8211,8211,12491,Abnormal dense tubular system,HPO,phenotype,PHENOTYPE_8211
8212,8212,8212,8212,8212,8212,8212,8212,31428,Increased circulating osteocalcin level,HPO,phenotype,PHENOTYPE_8212
8213,8213,8213,8213,8213,8213,8213,8213,12047,Hemeralopia,HPO,phenotype,PHENOTYPE_8213
8214,8214,8214,8214,8214,8214,8214,8214,410218,Hypoplasia of maxilla relative to mandible,HPO,phenotype,PHENOTYPE_8214
8215,8215,8215,8215,8215,8215,8215,8215,100006,Neoplasm of the central nervous system,HPO,phenotype,PHENOTYPE_8215
8216,8216,8216,8216,8216,8216,8216,8216,10561,Undulate ribs,HPO,phenotype,PHENOTYPE_8216
8217,8217,8217,8217,8217,8217,8217,8217,5155,Ventricular escape rhythm,HPO,phenotype,PHENOTYPE_8217
8218,8218,8218,8218,8218,8218,8218,8218,10013,Abnormal 5th metacarpal morphology,HPO,phenotype,PHENOTYPE_8218
8219,8219,8219,8219,8219,8219,8219,8219,100323,Juvenile aseptic necrosis,HPO,phenotype,PHENOTYPE_8219
8220,8220,8220,8220,8220,8220,8220,8220,25320,Leakage of dye on fundus fluorescein angiography,HPO,phenotype,PHENOTYPE_8220
8221,8221,8221,8221,8221,8221,8221,8221,41071,Transient decreased circulating IgG3,HPO,phenotype,PHENOTYPE_8221
8222,8222,8222,8222,8222,8222,8222,8222,3236,Elevated circulating creatine kinase concentration,HPO,phenotype,PHENOTYPE_8222
8223,8223,8223,8223,8223,8223,8223,8223,25559,Coronary cataract,HPO,phenotype,PHENOTYPE_8223
8224,8224,8224,8224,8224,8224,8224,8224,10132,Irregular epiphysis of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_8224
8225,8225,8225,8225,8225,8225,8225,8225,9697,Contracture of the distal interphalangeal joint of the fingers,HPO,phenotype,PHENOTYPE_8225
8226,8226,8226,8226,8226,8226,8226,8226,7754,Macular dystrophy,HPO,phenotype,PHENOTYPE_8226
8227,8227,8227,8227,8227,8227,8227,8227,4230,Subluxation of the proximal interphalangeal joint of the little finger,HPO,phenotype,PHENOTYPE_8227
8228,8228,8228,8228,8228,8228,8228,8228,9529,Irregular epiphysis of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_8228
8229,8229,8229,8229,8229,8229,8229,8229,10876,Abnormal circulating protein concentration,HPO,phenotype,PHENOTYPE_8229
8230,8230,8230,8230,8230,8230,8230,8230,6000754,Elevated circulating dimethyl sterol concentration,HPO,phenotype,PHENOTYPE_8230
8231,8231,8231,8231,8231,8231,8231,8231,25241,Flame-shaped retinal hemorrhage,HPO,phenotype,PHENOTYPE_8231
8232,8232,8232,8232,8232,8232,8232,8232,6496,Aplasia/hypoplasia involving bones of the upper limbs,HPO,phenotype,PHENOTYPE_8232
8233,8233,8233,8233,8233,8233,8233,8233,31325,Myocardial granulomatous infiltrates,HPO,phenotype,PHENOTYPE_8233
8234,8234,8234,8234,8234,8234,8234,8234,12499,Descending aortic dissection,HPO,phenotype,PHENOTYPE_8234
8235,8235,8235,8235,8235,8235,8235,8235,8047,Abnormality of the vasculature of the eye,HPO,phenotype,PHENOTYPE_8235
8236,8236,8236,8236,8236,8236,8236,8236,10062,Osteolytic defects of the phalanges of the hallux,HPO,phenotype,PHENOTYPE_8236
8237,8237,8237,8237,8237,8237,8237,8237,30105,Abnormal muscle fiber delta sarcoglycan,HPO,phenotype,PHENOTYPE_8237
8238,8238,8238,8238,8238,8238,8238,8238,25524,Palmoplantar scaling skin,HPO,phenotype,PHENOTYPE_8238
8239,8239,8239,8239,8239,8239,8239,8239,33456,Elevated urine keto acid level,HPO,phenotype,PHENOTYPE_8239
8240,8240,8240,8240,8240,8240,8240,8240,2342,"Intellectual disability, moderate",HPO,phenotype,PHENOTYPE_8240
8241,8241,8241,8241,8241,8241,8241,8241,8651,Uric acid urolithiasis independent of gout,HPO,phenotype,PHENOTYPE_8241
8242,8242,8242,8242,8242,8242,8242,8242,4913,Intermittent lactic acidemia,HPO,phenotype,PHENOTYPE_8242
8243,8243,8243,8243,8243,8243,8243,8243,100535,Tibiofibular diastasis,HPO,phenotype,PHENOTYPE_8243
8244,8244,8244,8244,8244,8244,8244,8244,2621,Atherosclerosis,HPO,phenotype,PHENOTYPE_8244
8245,8245,8245,8245,8245,8245,8245,8245,10705,4-5 finger cutaneous syndactyly,HPO,phenotype,PHENOTYPE_8245
8246,8246,8246,8246,8246,8246,8246,8246,10831,Impaired proprioception,HPO,phenotype,PHENOTYPE_8246
8247,8247,8247,8247,8247,8247,8247,8247,30056,Uncombable hair,HPO,phenotype,PHENOTYPE_8247
8248,8248,8248,8248,8248,8248,8248,8248,5605,Large cafe-au-lait macules with irregular margins,HPO,phenotype,PHENOTYPE_8248
8249,8249,8249,8249,8249,8249,8249,8249,10717,Osseous syndactyly of toes,HPO,phenotype,PHENOTYPE_8249
8250,8250,8250,8250,8250,8250,8250,8250,163,Abnormal oral cavity morphology,HPO,phenotype,PHENOTYPE_8250
8251,8251,8251,8251,8251,8251,8251,8251,537,Epicanthus inversus,HPO,phenotype,PHENOTYPE_8251
8252,8252,8252,8252,8252,8252,8252,8252,2827,Hip dislocation,HPO,phenotype,PHENOTYPE_8252
8253,8253,8253,8253,8253,8253,8253,8253,10956,Fetal megacystis,HPO,phenotype,PHENOTYPE_8253
8254,8254,8254,8254,8254,8254,8254,8254,34549,Adrenal leiomyoma,HPO,phenotype,PHENOTYPE_8254
8255,8255,8255,8255,8255,8255,8255,8255,41057,Transient decreased circulating IgG4,HPO,phenotype,PHENOTYPE_8255
8256,8256,8256,8256,8256,8256,8256,8256,6000153,Lymphocytic infiltration of the parotid gland,HPO,phenotype,PHENOTYPE_8256
8257,8257,8257,8257,8257,8257,8257,8257,4000128,Addictive nitrous oxide use,HPO,phenotype,PHENOTYPE_8257
8258,8258,8258,8258,8258,8258,8258,8258,6640,Multiple rib fractures,HPO,phenotype,PHENOTYPE_8258
8259,8259,8259,8259,8259,8259,8259,8259,5844,Rounded middle phalanx of finger,HPO,phenotype,PHENOTYPE_8259
8260,8260,8260,8260,8260,8260,8260,8260,34608,Decreased circulating transcobalamin II concentration,HPO,phenotype,PHENOTYPE_8260
8261,8261,8261,8261,8261,8261,8261,8261,30841,Toe pain,HPO,phenotype,PHENOTYPE_8261
8262,8262,8262,8262,8262,8262,8262,8262,10037,Aplasia of the 2nd metacarpal,HPO,phenotype,PHENOTYPE_8262
8263,8263,8263,8263,8263,8263,8263,8263,32712,Focal impaired awareness motor seizure,HPO,phenotype,PHENOTYPE_8263
8264,8264,8264,8264,8264,8264,8264,8264,5390,Recurrent opportunistic infections,HPO,phenotype,PHENOTYPE_8264
8265,8265,8265,8265,8265,8265,8265,8265,32958,Urinary oval fat bodies,HPO,phenotype,PHENOTYPE_8265
8266,8266,8266,8266,8266,8266,8266,8266,41166,Fractured vertebra,HPO,phenotype,PHENOTYPE_8266
8267,8267,8267,8267,8267,8267,8267,8267,31515,Abnormal meiosis,HPO,phenotype,PHENOTYPE_8267
8268,8268,8268,8268,8268,8268,8268,8268,12792,Absent ossification of thoracic vertebral bodies,HPO,phenotype,PHENOTYPE_8268
8269,8269,8269,8269,8269,8269,8269,8269,11995,Atrial septal dilatation,HPO,phenotype,PHENOTYPE_8269
8270,8270,8270,8270,8270,8270,8270,8270,33450,Abnormal circulating prealbumin concentration,HPO,phenotype,PHENOTYPE_8270
8271,8271,8271,8271,8271,8271,8271,8271,6155,Long phalanx of finger,HPO,phenotype,PHENOTYPE_8271
8272,8272,8272,8272,8272,8272,8272,8272,803,Renal cortical cysts,HPO,phenotype,PHENOTYPE_8272
8273,8273,8273,8273,8273,8273,8273,8273,20121,Conception by assisted reproductive technology,HPO,phenotype,PHENOTYPE_8273
8274,8274,8274,8274,8274,8274,8274,8274,5336,Forehead hyperpigmentation,HPO,phenotype,PHENOTYPE_8274
8275,8275,8275,8275,8275,8275,8275,8275,45036,Abnormal urinary copper concentration,HPO,phenotype,PHENOTYPE_8275
8276,8276,8276,8276,8276,8276,8276,8276,3865,Bowed humerus,HPO,phenotype,PHENOTYPE_8276
8277,8277,8277,8277,8277,8277,8277,8277,6000380,Anti-perilipin-1 antibody positivity,HPO,phenotype,PHENOTYPE_8277
8278,8278,8278,8278,8278,8278,8278,8278,6001008,Elevated urine glucose tetrasaccharide level,HPO,phenotype,PHENOTYPE_8278
8279,8279,8279,8279,8279,8279,8279,8279,12080,Cerebellar granular layer atrophy,HPO,phenotype,PHENOTYPE_8279
8280,8280,8280,8280,8280,8280,8280,8280,33899,Arcuate artery lumen organized thrombi,HPO,phenotype,PHENOTYPE_8280
8281,8281,8281,8281,8281,8281,8281,8281,30852,High pulse pressure,HPO,phenotype,PHENOTYPE_8281
8282,8282,8282,8282,8282,8282,8282,8282,33074,Steroid-responsive anemia,HPO,phenotype,PHENOTYPE_8282
8283,8283,8283,8283,8283,8283,8283,8283,10506,Abnormal plantar dermatoglyphics,HPO,phenotype,PHENOTYPE_8283
8284,8284,8284,8284,8284,8284,8284,8284,100171,Cone-shaped epiphysis of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_8284
8285,8285,8285,8285,8285,8285,8285,8285,2190,Choroid plexus cyst,HPO,phenotype,PHENOTYPE_8285
8286,8286,8286,8286,8286,8286,8286,8286,33145,Increased circulating ceruloplasmin concentration,HPO,phenotype,PHENOTYPE_8286
8287,8287,8287,8287,8287,8287,8287,8287,41144,Fractured clavicle bone,HPO,phenotype,PHENOTYPE_8287
8288,8288,8288,8288,8288,8288,8288,8288,31923,Hematocolpos,HPO,phenotype,PHENOTYPE_8288
8289,8289,8289,8289,8289,8289,8289,8289,12143,Abnormal megakaryocyte morphology,HPO,phenotype,PHENOTYPE_8289
8290,8290,8290,8290,8290,8290,8290,8290,4044,Pointed ulnar metaphysis,HPO,phenotype,PHENOTYPE_8290
8291,8291,8291,8291,8291,8291,8291,8291,9307,Patchy sclerosis of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_8291
8292,8292,8292,8292,8292,8292,8292,8292,410310,Abnormality of neutrophil morphology in CSF,HPO,phenotype,PHENOTYPE_8292
8293,8293,8293,8293,8293,8293,8293,8293,8037,Absent anterior chamber of the eye,HPO,phenotype,PHENOTYPE_8293
8294,8294,8294,8294,8294,8294,8294,8294,34310,Post-vaccination yellow fever,HPO,phenotype,PHENOTYPE_8294
8295,8295,8295,8295,8295,8295,8295,8295,5200360,Short REM sleep,HPO,phenotype,PHENOTYPE_8295
8296,8296,8296,8296,8296,8296,8296,8296,9887,Abnormality of hair pigmentation,HPO,phenotype,PHENOTYPE_8296
8297,8297,8297,8297,8297,8297,8297,8297,41090,Pelvic avulsion fracture,HPO,phenotype,PHENOTYPE_8297
8298,8298,8298,8298,8298,8298,8298,8298,100781,Abnormal sacroiliac joint morphology,HPO,phenotype,PHENOTYPE_8298
8299,8299,8299,8299,8299,8299,8299,8299,25736,Long-bone fracture,HPO,phenotype,PHENOTYPE_8299
8300,8300,8300,8300,8300,8300,8300,8300,12172,Stereotypical body rocking,HPO,phenotype,PHENOTYPE_8300
8301,8301,8301,8301,8301,8301,8301,8301,25731,Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity,HPO,phenotype,PHENOTYPE_8301
8302,8302,8302,8302,8302,8302,8302,8302,7017,Progressive forgetfulness,HPO,phenotype,PHENOTYPE_8302
8303,8303,8303,8303,8303,8303,8303,8303,9759,Neck pterygia,HPO,phenotype,PHENOTYPE_8303
8304,8304,8304,8304,8304,8304,8304,8304,32048,Focal cortical dysplasia type Ia,HPO,phenotype,PHENOTYPE_8304
8305,8305,8305,8305,8305,8305,8305,8305,6000548,Positive CSF Borrelia burgdorferi nucleic acid test,HPO,phenotype,PHENOTYPE_8305
8306,8306,8306,8306,8306,8306,8306,8306,2145,Frontotemporal dementia,HPO,phenotype,PHENOTYPE_8306
8307,8307,8307,8307,8307,8307,8307,8307,9442,Curved phalanges of the 3rd finger,HPO,phenotype,PHENOTYPE_8307
8308,8308,8308,8308,8308,8308,8308,8308,6000340,Prenatal flattened diaphragm,HPO,phenotype,PHENOTYPE_8308
8309,8309,8309,8309,8309,8309,8309,8309,33826,Inferior mediastinal mass,HPO,phenotype,PHENOTYPE_8309
8310,8310,8310,8310,8310,8310,8310,8310,33096,Increased aspartate family amino acid level in urine,HPO,phenotype,PHENOTYPE_8310
8311,8311,8311,8311,8311,8311,8311,8311,25323,Abnormal arterial physiology,HPO,phenotype,PHENOTYPE_8311
8312,8312,8312,8312,8312,8312,8312,8312,3112,Abnormal circulating amino acid concentration,HPO,phenotype,PHENOTYPE_8312
8313,8313,8313,8313,8313,8313,8313,8313,6000556,Reduced circulating dopamine beta-hydroxylase activity,HPO,phenotype,PHENOTYPE_8313
8314,8314,8314,8314,8314,8314,8314,8314,34296,"Elevated urine 3,5,6-trichloro-2-pyridinol level",HPO,phenotype,PHENOTYPE_8314
8315,8315,8315,8315,8315,8315,8315,8315,41161,Pelvis fracture,HPO,phenotype,PHENOTYPE_8315
8316,8316,8316,8316,8316,8316,8316,8316,32496,Elevated terminal:vellus ratio,HPO,phenotype,PHENOTYPE_8316
8317,8317,8317,8317,8317,8317,8317,8317,35011,Occupational silver exposure,HPO,phenotype,PHENOTYPE_8317
8318,8318,8318,8318,8318,8318,8318,8318,9,Functional abnormality of the bladder,HPO,phenotype,PHENOTYPE_8318
8319,8319,8319,8319,8319,8319,8319,8319,32944,Alkaline urine,HPO,phenotype,PHENOTYPE_8319
8320,8320,8320,8320,8320,8320,8320,8320,8454,Lumbar kyphosis,HPO,phenotype,PHENOTYPE_8320
8321,8321,8321,8321,8321,8321,8321,8321,10796,Brainstem glioma,HPO,phenotype,PHENOTYPE_8321
8322,8322,8322,8322,8322,8322,8322,8322,10851,EEG with burst suppression,HPO,phenotype,PHENOTYPE_8322
8323,8323,8323,8323,8323,8323,8323,8323,40251,Hand dimple,HPO,phenotype,PHENOTYPE_8323
8324,8324,8324,8324,8324,8324,8324,8324,33416,Hip adductor weakness,HPO,phenotype,PHENOTYPE_8324
8325,8325,8325,8325,8325,8325,8325,8325,6558,Decreased mitochondrial complex III activity in liver tissue,HPO,phenotype,PHENOTYPE_8325
8326,8326,8326,8326,8326,8326,8326,8326,12228,Tension-type headache,HPO,phenotype,PHENOTYPE_8326
8327,8327,8327,8327,8327,8327,8327,8327,10951,Abnormal third ventricle morphology,HPO,phenotype,PHENOTYPE_8327
8328,8328,8328,8328,8328,8328,8328,8328,34958,Asymmetrical insertion of the midpiece into the head,HPO,phenotype,PHENOTYPE_8328
8329,8329,8329,8329,8329,8329,8329,8329,577,Exotropia,HPO,phenotype,PHENOTYPE_8329
8330,8330,8330,8330,8330,8330,8330,8330,3423,Thoracolumbar kyphoscoliosis,HPO,phenotype,PHENOTYPE_8330
8331,8331,8331,8331,8331,8331,8331,8331,32167,Clostridium difficile enteritis,HPO,phenotype,PHENOTYPE_8331
8332,8332,8332,8332,8332,8332,8332,8332,33568,Left axis deviation,HPO,phenotype,PHENOTYPE_8332
8333,8333,8333,8333,8333,8333,8333,8333,4000025,Anti-integrin antibody positivity,HPO,phenotype,PHENOTYPE_8333
8334,8334,8334,8334,8334,8334,8334,8334,6000760,Positive CSF herpes simplex virus nucleic acid test,HPO,phenotype,PHENOTYPE_8334
8335,8335,8335,8335,8335,8335,8335,8335,12789,Hypoplasia of the calcaneus,HPO,phenotype,PHENOTYPE_8335
8336,8336,8336,8336,8336,8336,8336,8336,34461,Elevated urine kynurenine level,HPO,phenotype,PHENOTYPE_8336
8337,8337,8337,8337,8337,8337,8337,8337,200005,Abnormal shape of the palpebral fissure,HPO,phenotype,PHENOTYPE_8337
8338,8338,8338,8338,8338,8338,8338,8338,25803,Mucocutaneous lesion painful,HPO,phenotype,PHENOTYPE_8338
8339,8339,8339,8339,8339,8339,8339,8339,4468,Anomalous tracheal cartilage,HPO,phenotype,PHENOTYPE_8339
8340,8340,8340,8340,8340,8340,8340,8340,12592,Albuminuria,HPO,phenotype,PHENOTYPE_8340
8341,8341,8341,8341,8341,8341,8341,8341,25,Functional abnormality of male internal genitalia,HPO,phenotype,PHENOTYPE_8341
8342,8342,8342,8342,8342,8342,8342,8342,25296,Morbilliform,HPO,phenotype,PHENOTYPE_8342
8343,8343,8343,8343,8343,8343,8343,8343,8209,Premature ovarian insufficiency,HPO,phenotype,PHENOTYPE_8343
8344,8344,8344,8344,8344,8344,8344,8344,10200,Symphalangism affecting the middle phalanges of the toes,HPO,phenotype,PHENOTYPE_8344
8345,8345,8345,8345,8345,8345,8345,8345,10388,Patchy sclerosis of 5th toe phalanx,HPO,phenotype,PHENOTYPE_8345
8346,8346,8346,8346,8346,8346,8346,8346,6000990,Fetal methamphetamine exposure,HPO,phenotype,PHENOTYPE_8346
8347,8347,8347,8347,8347,8347,8347,8347,6000884,Enlarged humeral head,HPO,phenotype,PHENOTYPE_8347
8348,8348,8348,8348,8348,8348,8348,8348,33464,Elevated circulating 3-hydroxypalmitoleylcarnitine concentration,HPO,phenotype,PHENOTYPE_8348
8349,8349,8349,8349,8349,8349,8349,8349,100189,Stippling of the epiphysis of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_8349
8350,8350,8350,8350,8350,8350,8350,8350,8517,Aplasia/Hypoplasia of the sacrum,HPO,phenotype,PHENOTYPE_8350
8351,8351,8351,8351,8351,8351,8351,8351,25057,Abnormal olfactory lobe morphology,HPO,phenotype,PHENOTYPE_8351
8352,8352,8352,8352,8352,8352,8352,8352,7165,Periventricular heterotopia,HPO,phenotype,PHENOTYPE_8352
8353,8353,8353,8353,8353,8353,8353,8353,10327,Flexion contracture of the 2nd toe,HPO,phenotype,PHENOTYPE_8353
8354,8354,8354,8354,8354,8354,8354,8354,25734,Elevated urinary 5-hydroxyhexanoic acid level,HPO,phenotype,PHENOTYPE_8354
8355,8355,8355,8355,8355,8355,8355,8355,10262,Irregular epiphyses of the middle phalanges of the hand,HPO,phenotype,PHENOTYPE_8355
8356,8356,8356,8356,8356,8356,8356,8356,33501,Subepithelial glomerular basement membrane electron dense deposits,HPO,phenotype,PHENOTYPE_8356
8357,8357,8357,8357,8357,8357,8357,8357,2613,Biliary cirrhosis,HPO,phenotype,PHENOTYPE_8357
8358,8358,8358,8358,8358,8358,8358,8358,12021,Persistent patent ductus venosus,HPO,phenotype,PHENOTYPE_8358
8359,8359,8359,8359,8359,8359,8359,8359,34333,Increased circulating hypoxanthine concentration,HPO,phenotype,PHENOTYPE_8359
8360,8360,8360,8360,8360,8360,8360,8360,30745,Dilatation of the ductus arteriosus,HPO,phenotype,PHENOTYPE_8360
8361,8361,8361,8361,8361,8361,8361,8361,1649,Tachycardia,HPO,phenotype,PHENOTYPE_8361
8362,8362,8362,8362,8362,8362,8362,8362,5200293,Disturbance during transitions between sleep and wake states,HPO,phenotype,PHENOTYPE_8362
8363,8363,8363,8363,8363,8363,8363,8363,4224,Abnormality of the epiphysis of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_8363
8364,8364,8364,8364,8364,8364,8364,8364,31956,Elevated circulating aspartate aminotransferase concentration,HPO,phenotype,PHENOTYPE_8364
8365,8365,8365,8365,8365,8365,8365,8365,4000207,Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_8365
8366,8366,8366,8366,8366,8366,8366,8366,10450,Esophageal stenosis,HPO,phenotype,PHENOTYPE_8366
8367,8367,8367,8367,8367,8367,8367,8367,6000110,Large joint predominance,HPO,phenotype,PHENOTYPE_8367
8368,8368,8368,8368,8368,8368,8368,8368,34976,Absent pituitary stalk,HPO,phenotype,PHENOTYPE_8368
8369,8369,8369,8369,8369,8369,8369,8369,9206,Enlarged epiphysis of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_8369
8370,8370,8370,8370,8370,8370,8370,8370,2960,Autoimmunity,HPO,phenotype,PHENOTYPE_8370
8371,8371,8371,8371,8371,8371,8371,8371,40047,Abnormal right hemidiaphragm morphology,HPO,phenotype,PHENOTYPE_8371
8372,8372,8372,8372,8372,8372,8372,8372,5650,2-5 finger cutaneous syndactyly,HPO,phenotype,PHENOTYPE_8372
8373,8373,8373,8373,8373,8373,8373,8373,100023,Recurrent hand flapping,HPO,phenotype,PHENOTYPE_8373
8374,8374,8374,8374,8374,8374,8374,8374,1470,Sex-limited expression,HPO,phenotype,PHENOTYPE_8374
8375,8375,8375,8375,8375,8375,8375,8375,100373,Aplasia/Hypoplasia of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_8375
8376,8376,8376,8376,8376,8376,8376,8376,9767,Aplasia/Hypoplasia of the phalanges of the hand,HPO,phenotype,PHENOTYPE_8376
8377,8377,8377,8377,8377,8377,8377,8377,1032,Absent distal interphalangeal creases,HPO,phenotype,PHENOTYPE_8377
8378,8378,8378,8378,8378,8378,8378,8378,30870,Abnormality of spinal facet joint,HPO,phenotype,PHENOTYPE_8378
8379,8379,8379,8379,8379,8379,8379,8379,12875,Abnormal ejaculation,HPO,phenotype,PHENOTYPE_8379
8380,8380,8380,8380,8380,8380,8380,8380,12534,Dysesthesia,HPO,phenotype,PHENOTYPE_8380
8381,8381,8381,8381,8381,8381,8381,8381,33888,Abnormal cortical radial artery intima/media morphology,HPO,phenotype,PHENOTYPE_8381
8382,8382,8382,8382,8382,8382,8382,8382,100437,Bullet-shaped proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_8382
8383,8383,8383,8383,8383,8383,8383,8383,11589,Common origin of the right brachiocephalic artery and left common carotid artery,HPO,phenotype,PHENOTYPE_8383
8384,8384,8384,8384,8384,8384,8384,8384,5307,Postural hypotension with compensatory tachycardia,HPO,phenotype,PHENOTYPE_8384
8385,8385,8385,8385,8385,8385,8385,8385,31971,Subaortic ventricular septal bulge,HPO,phenotype,PHENOTYPE_8385
8386,8386,8386,8386,8386,8386,8386,8386,30605,Abnormal indocyanine green angiography,HPO,phenotype,PHENOTYPE_8386
8387,8387,8387,8387,8387,8387,8387,8387,100767,Abnormal placenta morphology,HPO,phenotype,PHENOTYPE_8387
8388,8388,8388,8388,8388,8388,8388,8388,25109,Reduced red cell pyruvate kinase level,HPO,phenotype,PHENOTYPE_8388
8389,8389,8389,8389,8389,8389,8389,8389,738,Hallucinations,HPO,phenotype,PHENOTYPE_8389
8390,8390,8390,8390,8390,8390,8390,8390,410067,Increased level of L-fucose in urine,HPO,phenotype,PHENOTYPE_8390
8391,8391,8391,8391,8391,8391,8391,8391,34927,Large keratohyaline granules,HPO,phenotype,PHENOTYPE_8391
8392,8392,8392,8392,8392,8392,8392,8392,34665,Shoulder contracture,HPO,phenotype,PHENOTYPE_8392
8393,8393,8393,8393,8393,8393,8393,8393,9400,Pseudoepiphyses of the 4th finger,HPO,phenotype,PHENOTYPE_8393
8394,8394,8394,8394,8394,8394,8394,8394,12384,Rhinitis,HPO,phenotype,PHENOTYPE_8394
8395,8395,8395,8395,8395,8395,8395,8395,11469,Nasal regurgitation,HPO,phenotype,PHENOTYPE_8395
8396,8396,8396,8396,8396,8396,8396,8396,12345,Abnormal glycosylation,HPO,phenotype,PHENOTYPE_8396
8397,8397,8397,8397,8397,8397,8397,8397,30560,Best corrected visual acuity 0.6 LogMAR,HPO,phenotype,PHENOTYPE_8397
8398,8398,8398,8398,8398,8398,8398,8398,6000232,Splenic necrosis,HPO,phenotype,PHENOTYPE_8398
8399,8399,8399,8399,8399,8399,8399,8399,1233,2-3 finger cutaneous syndactyly,HPO,phenotype,PHENOTYPE_8399
8400,8400,8400,8400,8400,8400,8400,8400,6000471,Dilated ejaculatory duct,HPO,phenotype,PHENOTYPE_8400
8401,8401,8401,8401,8401,8401,8401,8401,12616,Leukocyte cylindruria,HPO,phenotype,PHENOTYPE_8401
8402,8402,8402,8402,8402,8402,8402,8402,30975,Pontine tegmental cap,HPO,phenotype,PHENOTYPE_8402
8403,8403,8403,8403,8403,8403,8403,8403,263,Oxycephaly,HPO,phenotype,PHENOTYPE_8403
8404,8404,8404,8404,8404,8404,8404,8404,500145,Hypohistidinemia,HPO,phenotype,PHENOTYPE_8404
8405,8405,8405,8405,8405,8405,8405,8405,4784,Juvenile gastrointestinal polyposis,HPO,phenotype,PHENOTYPE_8405
8406,8406,8406,8406,8406,8406,8406,8406,25513,Scleral rupture,HPO,phenotype,PHENOTYPE_8406
8407,8407,8407,8407,8407,8407,8407,8407,5923,Abnormal hand metaphysis morphology,HPO,phenotype,PHENOTYPE_8407
8408,8408,8408,8408,8408,8408,8408,8408,4000151,History of recent contralateral injury,HPO,phenotype,PHENOTYPE_8408
8409,8409,8409,8409,8409,8409,8409,8409,8697,Hypoplasia of the fallopian tube,HPO,phenotype,PHENOTYPE_8409
8410,8410,8410,8410,8410,8410,8410,8410,11502,Posterior lenticonus,HPO,phenotype,PHENOTYPE_8410
8411,8411,8411,8411,8411,8411,8411,8411,6000469,"Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level",HPO,phenotype,PHENOTYPE_8411
8412,8412,8412,8412,8412,8412,8412,8412,20120,Retinal nerve fiber edema,HPO,phenotype,PHENOTYPE_8412
8413,8413,8413,8413,8413,8413,8413,8413,30355,Abnormal circulating interferon-gamma concentration,HPO,phenotype,PHENOTYPE_8413
8414,8414,8414,8414,8414,8414,8414,8414,1015,Prominent superficial veins,HPO,phenotype,PHENOTYPE_8414
8415,8415,8415,8415,8415,8415,8415,8415,34986,Focal necrotic brainstem lesion,HPO,phenotype,PHENOTYPE_8415
8416,8416,8416,8416,8416,8416,8416,8416,12560,Decreased T3/T4 ratio,HPO,phenotype,PHENOTYPE_8416
8417,8417,8417,8417,8417,8417,8417,8417,11175,Focal motor seizure with version,HPO,phenotype,PHENOTYPE_8417
8418,8418,8418,8418,8418,8418,8418,8418,12029,Abnormal urine hormone level,HPO,phenotype,PHENOTYPE_8418
8419,8419,8419,8419,8419,8419,8419,8419,40412,Left ventricular thrombus,HPO,phenotype,PHENOTYPE_8419
8420,8420,8420,8420,8420,8420,8420,8420,6398,Flat distal femoral epiphysis,HPO,phenotype,PHENOTYPE_8420
8421,8421,8421,8421,8421,8421,8421,8421,10431,Short phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_8421
8422,8422,8422,8422,8422,8422,8422,8422,93,Proteinuria,HPO,phenotype,PHENOTYPE_8422
8423,8423,8423,8423,8423,8423,8423,8423,10625,Anterior pituitary dysgenesis,HPO,phenotype,PHENOTYPE_8423
8424,8424,8424,8424,8424,8424,8424,8424,4000101,Triggered by exposure to medication,HPO,phenotype,PHENOTYPE_8424
8425,8425,8425,8425,8425,8425,8425,8425,12818,Biventricular noncompaction cardiomyopathy,HPO,phenotype,PHENOTYPE_8425
8426,8426,8426,8426,8426,8426,8426,8426,12051,Reactive hypoglycemia,HPO,phenotype,PHENOTYPE_8426
8427,8427,8427,8427,8427,8427,8427,8427,3566,Increased serum prostaglandin E2,HPO,phenotype,PHENOTYPE_8427
8428,8428,8428,8428,8428,8428,8428,8428,11317,Right unicoronal synostosis,HPO,phenotype,PHENOTYPE_8428
8429,8429,8429,8429,8429,8429,8429,8429,10698,Nuclear pulverulent cataract,HPO,phenotype,PHENOTYPE_8429
8430,8430,8430,8430,8430,8430,8430,8430,100745,Abnormality of the humeroulnar joint,HPO,phenotype,PHENOTYPE_8430
8431,8431,8431,8431,8431,8431,8431,8431,6749,Malignant gastrointestinal tract tumors,HPO,phenotype,PHENOTYPE_8431
8432,8432,8432,8432,8432,8432,8432,8432,466,Limited neck range of motion,HPO,phenotype,PHENOTYPE_8432
8433,8433,8433,8433,8433,8433,8433,8433,500065,Retinopathy of prematurity prethreshold,HPO,phenotype,PHENOTYPE_8433
8434,8434,8434,8434,8434,8434,8434,8434,6000227,Prosthetic heart valve,HPO,phenotype,PHENOTYPE_8434
8435,8435,8435,8435,8435,8435,8435,8435,31167,Triggered by ingestion of potassium-rich food,HPO,phenotype,PHENOTYPE_8435
8436,8436,8436,8436,8436,8436,8436,8436,11239,Underdeveloped inferior crus of antihelix,HPO,phenotype,PHENOTYPE_8436
8437,8437,8437,8437,8437,8437,8437,8437,12070,Chondroitin sulfate excretion in urine,HPO,phenotype,PHENOTYPE_8437
8438,8438,8438,8438,8438,8438,8438,8438,30227,Accumulation of muscle fiber myotilin,HPO,phenotype,PHENOTYPE_8438
8439,8439,8439,8439,8439,8439,8439,8439,25752,Reduced posterior scleral thickness,HPO,phenotype,PHENOTYPE_8439
8440,8440,8440,8440,8440,8440,8440,8440,33410,Elevated circulating cartilage oligomeric matrix protein concentration,HPO,phenotype,PHENOTYPE_8440
8441,8441,8441,8441,8441,8441,8441,8441,34212,Fetal extra-axial hemorrhage,HPO,phenotype,PHENOTYPE_8441
8442,8442,8442,8442,8442,8442,8442,8442,1780,Abnormal toe morphology,HPO,phenotype,PHENOTYPE_8442
8443,8443,8443,8443,8443,8443,8443,8443,410049,Abnormal radial ray morphology,HPO,phenotype,PHENOTYPE_8443
8444,8444,8444,8444,8444,8444,8444,8444,11522,Protanopia,HPO,phenotype,PHENOTYPE_8444
8445,8445,8445,8445,8445,8445,8445,8445,500019,Abnormal resting energy expenditure from metabolic cart test,HPO,phenotype,PHENOTYPE_8445
8446,8446,8446,8446,8446,8446,8446,8446,9673,Stippling of the epiphysis of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_8446
8447,8447,8447,8447,8447,8447,8447,8447,32774,Focal impaired awareness autonomic seizure with urge to urinate/defecate,HPO,phenotype,PHENOTYPE_8447
8448,8448,8448,8448,8448,8448,8448,8448,34467,Increased urinary cysteine level,HPO,phenotype,PHENOTYPE_8448
8449,8449,8449,8449,8449,8449,8449,8449,9819,Lower limb phocomelia,HPO,phenotype,PHENOTYPE_8449
8450,8450,8450,8450,8450,8450,8450,8450,6000470,Fetal oral mass,HPO,phenotype,PHENOTYPE_8450
8451,8451,8451,8451,8451,8451,8451,8451,8511,Central posterior corneal opacity,HPO,phenotype,PHENOTYPE_8451
8452,8452,8452,8452,8452,8452,8452,8452,41187,Fractured proximal phalanx of pedal digit 1,HPO,phenotype,PHENOTYPE_8452
8453,8453,8453,8453,8453,8453,8453,8453,32482,Decreased pituitary glycoprotein hormone alpha subunit level,HPO,phenotype,PHENOTYPE_8453
8454,8454,8454,8454,8454,8454,8454,8454,5343,Hypoplasia of the bladder,HPO,phenotype,PHENOTYPE_8454
8455,8455,8455,8455,8455,8455,8455,8455,12644,Increased caudate lactate level,HPO,phenotype,PHENOTYPE_8455
8456,8456,8456,8456,8456,8456,8456,8456,336,Prominent supraorbital ridges,HPO,phenotype,PHENOTYPE_8456
8457,8457,8457,8457,8457,8457,8457,8457,25497,Coronary artery spasm,HPO,phenotype,PHENOTYPE_8457
8458,8458,8458,8458,8458,8458,8458,8458,8475,Hypoplastic sacral vertebrae,HPO,phenotype,PHENOTYPE_8458
8459,8459,8459,8459,8459,8459,8459,8459,30796,Increased C-peptide level,HPO,phenotype,PHENOTYPE_8459
8460,8460,8460,8460,8460,8460,8460,8460,33386,Abnormal circulating collagen degradation product concentration,HPO,phenotype,PHENOTYPE_8460
8461,8461,8461,8461,8461,8461,8461,8461,200040,Epidermoid cyst,HPO,phenotype,PHENOTYPE_8461
8462,8462,8462,8462,8462,8462,8462,8462,3610,Fibroblast metachromasia,HPO,phenotype,PHENOTYPE_8462
8463,8463,8463,8463,8463,8463,8463,8463,4000183,Abnormal erythrocyte adenosine triphosphate concentration,HPO,phenotype,PHENOTYPE_8463
8464,8464,8464,8464,8464,8464,8464,8464,32259,Chronic tinea infection,HPO,phenotype,PHENOTYPE_8464
8465,8465,8465,8465,8465,8465,8465,8465,8185,Precocious puberty in males,HPO,phenotype,PHENOTYPE_8465
8466,8466,8466,8466,8466,8466,8466,8466,34003,Broad medial eyebrow,HPO,phenotype,PHENOTYPE_8466
8467,8467,8467,8467,8467,8467,8467,8467,34702,Abnormal keratinocyte morphology,HPO,phenotype,PHENOTYPE_8467
8468,8468,8468,8468,8468,8468,8468,8468,6608,Midclavicular hypoplasia,HPO,phenotype,PHENOTYPE_8468
8469,8469,8469,8469,8469,8469,8469,8469,5200358,Prolonged N2 sleep,HPO,phenotype,PHENOTYPE_8469
8470,8470,8470,8470,8470,8470,8470,8470,3906,Broad humeral epiphyseal plate,HPO,phenotype,PHENOTYPE_8470
8471,8471,8471,8471,8471,8471,8471,8471,41176,Fractured distal phalanx of manual digit 2,HPO,phenotype,PHENOTYPE_8471
8472,8472,8472,8472,8472,8472,8472,8472,6000947,Hemimelia of lower leg,HPO,phenotype,PHENOTYPE_8472
8473,8473,8473,8473,8473,8473,8473,8473,30721,Tetraphocomelia,HPO,phenotype,PHENOTYPE_8473
8474,8474,8474,8474,8474,8474,8474,8474,500156,Hyperasparaginemia,HPO,phenotype,PHENOTYPE_8474
8475,8475,8475,8475,8475,8475,8475,8475,9681,Ivory epiphysis of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_8475
8476,8476,8476,8476,8476,8476,8476,8476,25163,Abnormal optic chiasm morphology,HPO,phenotype,PHENOTYPE_8476
8477,8477,8477,8477,8477,8477,8477,8477,11125,Abnormality of dermal melanosomes,HPO,phenotype,PHENOTYPE_8477
8478,8478,8478,8478,8478,8478,8478,8478,10817,Linear nevus sebaceous,HPO,phenotype,PHENOTYPE_8478
8479,8479,8479,8479,8479,8479,8479,8479,6931,Pericallosal lipoma,HPO,phenotype,PHENOTYPE_8479
8480,8480,8480,8480,8480,8480,8480,8480,20165,Branch retinal vein occlusion,HPO,phenotype,PHENOTYPE_8480
8481,8481,8481,8481,8481,8481,8481,8481,6000943,Femoral osteopoikilosis,HPO,phenotype,PHENOTYPE_8481
8482,8482,8482,8482,8482,8482,8482,8482,31662,Fixed splitting of the second heart sound,HPO,phenotype,PHENOTYPE_8482
8483,8483,8483,8483,8483,8483,8483,8483,100096,Abnormality of the epiphysis of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_8483
8484,8484,8484,8484,8484,8484,8484,8484,34253,Eosinophil nuclear hypersegmentation,HPO,phenotype,PHENOTYPE_8484
8485,8485,8485,8485,8485,8485,8485,8485,500026,Hypoplasia of the musculature of the pelvis,HPO,phenotype,PHENOTYPE_8485
8486,8486,8486,8486,8486,8486,8486,8486,2250,Abnormal large intestine morphology,HPO,phenotype,PHENOTYPE_8486
8487,8487,8487,8487,8487,8487,8487,8487,6001164,Foot mass,HPO,phenotype,PHENOTYPE_8487
8488,8488,8488,8488,8488,8488,8488,8488,5200129,Abnormal rituals,HPO,phenotype,PHENOTYPE_8488
8489,8489,8489,8489,8489,8489,8489,8489,6000366,Gastrocnemius contracture,HPO,phenotype,PHENOTYPE_8489
8490,8490,8490,8490,8490,8490,8490,8490,11827,Malaligned philtral ridges,HPO,phenotype,PHENOTYPE_8490
8491,8491,8491,8491,8491,8491,8491,8491,34007,Posterior atrophy of corpus callosum,HPO,phenotype,PHENOTYPE_8491
8492,8492,8492,8492,8492,8492,8492,8492,3984,Posteriorly dislocated ulna,HPO,phenotype,PHENOTYPE_8492
8493,8493,8493,8493,8493,8493,8493,8493,30501,Macular crystals,HPO,phenotype,PHENOTYPE_8493
8494,8494,8494,8494,8494,8494,8494,8494,33331,Acute phase response,HPO,phenotype,PHENOTYPE_8494
8495,8495,8495,8495,8495,8495,8495,8495,2737,Thick skull base,HPO,phenotype,PHENOTYPE_8495
8496,8496,8496,8496,8496,8496,8496,8496,3840,Delayed upper limb epiphyseal ossification,HPO,phenotype,PHENOTYPE_8496
8497,8497,8497,8497,8497,8497,8497,8497,33338,Abnormal female meiosis,HPO,phenotype,PHENOTYPE_8497
8498,8498,8498,8498,8498,8498,8498,8498,6001094,Exposure to oily lotions or creams,HPO,phenotype,PHENOTYPE_8498
8499,8499,8499,8499,8499,8499,8499,8499,5272,Prominent nasolabial fold,HPO,phenotype,PHENOTYPE_8499
8500,8500,8500,8500,8500,8500,8500,8500,32417,Periglomerular fibrosis,HPO,phenotype,PHENOTYPE_8500
8501,8501,8501,8501,8501,8501,8501,8501,45045,Elevated circulating acylcarnitine concentration,HPO,phenotype,PHENOTYPE_8501
8502,8502,8502,8502,8502,8502,8502,8502,32799,Focal impaired awareness hemiclonic seizure,HPO,phenotype,PHENOTYPE_8502
8503,8503,8503,8503,8503,8503,8503,8503,8191,Thyroid agenesis,HPO,phenotype,PHENOTYPE_8503
8504,8504,8504,8504,8504,8504,8504,8504,31927,Flexner-Wintersteiner rosette,HPO,phenotype,PHENOTYPE_8504
8505,8505,8505,8505,8505,8505,8505,8505,3829,Typified by incomplete penetrance,HPO,phenotype,PHENOTYPE_8505
8506,8506,8506,8506,8506,8506,8506,8506,6000024,Synesthesia,HPO,phenotype,PHENOTYPE_8506
8507,8507,8507,8507,8507,8507,8507,8507,5366,Recurrent streptococcus pneumoniae infections,HPO,phenotype,PHENOTYPE_8507
8508,8508,8508,8508,8508,8508,8508,8508,3124,Hypercholesterolemia,HPO,phenotype,PHENOTYPE_8508
8509,8509,8509,8509,8509,8509,8509,8509,25768,Inappropriate elation,HPO,phenotype,PHENOTYPE_8509
8510,8510,8510,8510,8510,8510,8510,8510,8437,Bifid thoracic vertebrae,HPO,phenotype,PHENOTYPE_8510
8511,8511,8511,8511,8511,8511,8511,8511,4433,Secretory IgA deficiency,HPO,phenotype,PHENOTYPE_8511
8512,8512,8512,8512,8512,8512,8512,8512,8026,Horizontal opticokinetic nystagmus,HPO,phenotype,PHENOTYPE_8512
8513,8513,8513,8513,8513,8513,8513,8513,9561,Osteolytic defects of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_8513
8514,8514,8514,8514,8514,8514,8514,8514,1595,Abnormal hair morphology,HPO,phenotype,PHENOTYPE_8514
8515,8515,8515,8515,8515,8515,8515,8515,31135,Triggered by physical trauma,HPO,phenotype,PHENOTYPE_8515
8516,8516,8516,8516,8516,8516,8516,8516,9249,Abnormality of the epiphysis of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_8516
8517,8517,8517,8517,8517,8517,8517,8517,6980,Progressive leukoencephalopathy,HPO,phenotype,PHENOTYPE_8517
8518,8518,8518,8518,8518,8518,8518,8518,2955,Granulomatosis,HPO,phenotype,PHENOTYPE_8518
8519,8519,8519,8519,8519,8519,8519,8519,30070,Central primitive neuroectodermal tumor,HPO,phenotype,PHENOTYPE_8519
8520,8520,8520,8520,8520,8520,8520,8520,2730,Chronic noninfectious lymphadenopathy,HPO,phenotype,PHENOTYPE_8520
8521,8521,8521,8521,8521,8521,8521,8521,823,Delayed puberty,HPO,phenotype,PHENOTYPE_8521
8522,8522,8522,8522,8522,8522,8522,8522,4019,Radial metaphyseal irregularity,HPO,phenotype,PHENOTYPE_8522
8523,8523,8523,8523,8523,8523,8523,8523,3755,Type 1 fibers relatively smaller than type 2 fibers,HPO,phenotype,PHENOTYPE_8523
8524,8524,8524,8524,8524,8524,8524,8524,100841,Microgastria,HPO,phenotype,PHENOTYPE_8524
8525,8525,8525,8525,8525,8525,8525,8525,96,Glomerular sclerosis,HPO,phenotype,PHENOTYPE_8525
8526,8526,8526,8526,8526,8526,8526,8526,6535,Recurrent intrapulmonary hemorrhage,HPO,phenotype,PHENOTYPE_8526
8527,8527,8527,8527,8527,8527,8527,8527,31125,Decreased platelet alpha-2A-adrenergic receptor,HPO,phenotype,PHENOTYPE_8527
8528,8528,8528,8528,8528,8528,8528,8528,5655,Multiple digital exostoses,HPO,phenotype,PHENOTYPE_8528
8529,8529,8529,8529,8529,8529,8529,8529,3682,Variable progression rate,HPO,phenotype,PHENOTYPE_8529
8530,8530,8530,8530,8530,8530,8530,8530,20291,Increased lymph-node cellular CD20 expression,HPO,phenotype,PHENOTYPE_8530
8531,8531,8531,8531,8531,8531,8531,8531,41067,Transient decreased circulating IgG1,HPO,phenotype,PHENOTYPE_8531
8532,8532,8532,8532,8532,8532,8532,8532,34032,Central cyanosis,HPO,phenotype,PHENOTYPE_8532
8533,8533,8533,8533,8533,8533,8533,8533,2344,Progressive neurologic deterioration,HPO,phenotype,PHENOTYPE_8533
8534,8534,8534,8534,8534,8534,8534,8534,33742,Intrarenal reflux,HPO,phenotype,PHENOTYPE_8534
8535,8535,8535,8535,8535,8535,8535,8535,20204,Tubulointerstitial bacterial infiltration,HPO,phenotype,PHENOTYPE_8535
8536,8536,8536,8536,8536,8536,8536,8536,25329,Anti-glutamic acid decarboxylase antibody positivity,HPO,phenotype,PHENOTYPE_8536
8537,8537,8537,8537,8537,8537,8537,8537,32196,Prominent S wave in lead I,HPO,phenotype,PHENOTYPE_8537
8538,8538,8538,8538,8538,8538,8538,8538,11141,Age-related cataract,HPO,phenotype,PHENOTYPE_8538
8539,8539,8539,8539,8539,8539,8539,8539,8449,Progressive cervical vertebral spine fusion,HPO,phenotype,PHENOTYPE_8539
8540,8540,8540,8540,8540,8540,8540,8540,31358,Vegetative state,HPO,phenotype,PHENOTYPE_8540
8541,8541,8541,8541,8541,8541,8541,8541,885,Broad ribs,HPO,phenotype,PHENOTYPE_8541
8542,8542,8542,8542,8542,8542,8542,8542,30397,Abnormal platelet dense granule secretion,HPO,phenotype,PHENOTYPE_8542
8543,8543,8543,8543,8543,8543,8543,8543,410302,Decreased specific antibody response to protein-conjugated polysaccharide vaccine,HPO,phenotype,PHENOTYPE_8543
8544,8544,8544,8544,8544,8544,8544,8544,33850,Coldness,HPO,phenotype,PHENOTYPE_8544
8545,8545,8545,8545,8545,8545,8545,8545,4404,Abnormal nipple morphology,HPO,phenotype,PHENOTYPE_8545
8546,8546,8546,8546,8546,8546,8546,8546,34757,Fetal barbiturate exposure,HPO,phenotype,PHENOTYPE_8546
8547,8547,8547,8547,8547,8547,8547,8547,100297,Increased endomysial connective tissue,HPO,phenotype,PHENOTYPE_8547
8548,8548,8548,8548,8548,8548,8548,8548,31560,Coronary cameral fistula,HPO,phenotype,PHENOTYPE_8548
8549,8549,8549,8549,8549,8549,8549,8549,7715,Weak extraocular muscles,HPO,phenotype,PHENOTYPE_8549
8550,8550,8550,8550,8550,8550,8550,8550,7403,Hypertrophy of skin of soles,HPO,phenotype,PHENOTYPE_8550
8551,8551,8551,8551,8551,8551,8551,8551,25010,Foveal atrophy,HPO,phenotype,PHENOTYPE_8551
8552,8552,8552,8552,8552,8552,8552,8552,30488,Abnormal central response of multifocal electroretinogram,HPO,phenotype,PHENOTYPE_8552
8553,8553,8553,8553,8553,8553,8553,8553,1324,Muscle weakness,HPO,phenotype,PHENOTYPE_8553
8554,8554,8554,8554,8554,8554,8554,8554,5926,Abnormal hand cortical bone morphology,HPO,phenotype,PHENOTYPE_8554
8555,8555,8555,8555,8555,8555,8555,8555,33560,Anti-PM-Scl antibody positivity,HPO,phenotype,PHENOTYPE_8555
8556,8556,8556,8556,8556,8556,8556,8556,12030,Increased urinary cortisol level,HPO,phenotype,PHENOTYPE_8556
8557,8557,8557,8557,8557,8557,8557,8557,6001123,Pain disproportionate to abnormality on physical exam,HPO,phenotype,PHENOTYPE_8557
8558,8558,8558,8558,8558,8558,8558,8558,12435,Ventral shortening of foreskin,HPO,phenotype,PHENOTYPE_8558
8559,8559,8559,8559,8559,8559,8559,8559,5203,Spontaneous esophageal perforation,HPO,phenotype,PHENOTYPE_8559
8560,8560,8560,8560,8560,8560,8560,8560,34306,Ventricular bigeminy,HPO,phenotype,PHENOTYPE_8560
8561,8561,8561,8561,8561,8561,8561,8561,100774,Hyperostosis,HPO,phenotype,PHENOTYPE_8561
8562,8562,8562,8562,8562,8562,8562,8562,4000022,Anti-laminin 6 antibody positivity,HPO,phenotype,PHENOTYPE_8562
8563,8563,8563,8563,8563,8563,8563,8563,2343,Normal pressure hydrocephalus,HPO,phenotype,PHENOTYPE_8563
8564,8564,8564,8564,8564,8564,8564,8564,3736,Autophagic vacuoles,HPO,phenotype,PHENOTYPE_8564
8565,8565,8565,8565,8565,8565,8565,8565,20047,Abnormal myeloid cell morphology,HPO,phenotype,PHENOTYPE_8565
8566,8566,8566,8566,8566,8566,8566,8566,32356,Decreased pre-bronchodilator forced vital capacity,HPO,phenotype,PHENOTYPE_8566
8567,8567,8567,8567,8567,8567,8567,8567,11909,Flattened metacarpal heads,HPO,phenotype,PHENOTYPE_8567
8568,8568,8568,8568,8568,8568,8568,8568,32376,Anti-beta 2 glycoprotein I antibody positivity,HPO,phenotype,PHENOTYPE_8568
8569,8569,8569,8569,8569,8569,8569,8569,8744,Abnormal aryepiglottic fold morphology,HPO,phenotype,PHENOTYPE_8569
8570,8570,8570,8570,8570,8570,8570,8570,4227,Short distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_8570
8571,8571,8571,8571,8571,8571,8571,8571,31522,Cervical clear cell adenocarcinoma,HPO,phenotype,PHENOTYPE_8571
8572,8572,8572,8572,8572,8572,8572,8572,34604,Elevated circulating DOPA concentration,HPO,phenotype,PHENOTYPE_8572
8573,8573,8573,8573,8573,8573,8573,8573,10940,Aplasia/Hypoplasia of the nasal bone,HPO,phenotype,PHENOTYPE_8573
8574,8574,8574,8574,8574,8574,8574,8574,30496,Macular exudate,HPO,phenotype,PHENOTYPE_8574
8575,8575,8575,8575,8575,8575,8575,8575,25774,Idiosyncratic use of words,HPO,phenotype,PHENOTYPE_8575
8576,8576,8576,8576,8576,8576,8576,8576,30922,5-minute APGAR score of 2,HPO,phenotype,PHENOTYPE_8576
8577,8577,8577,8577,8577,8577,8577,8577,32706,Focal aware cognitive seizure with left-right confusion,HPO,phenotype,PHENOTYPE_8577
8578,8578,8578,8578,8578,8578,8578,8578,32642,Renal interstitial necrotizing granulomas,HPO,phenotype,PHENOTYPE_8578
8579,8579,8579,8579,8579,8579,8579,8579,32655,Decreased adipose tissue tocopherol level,HPO,phenotype,PHENOTYPE_8579
8580,8580,8580,8580,8580,8580,8580,8580,1787,Abnormal delivery,HPO,phenotype,PHENOTYPE_8580
8581,8581,8581,8581,8581,8581,8581,8581,3162,Fasting hypoglycemia,HPO,phenotype,PHENOTYPE_8581
8582,8582,8582,8582,8582,8582,8582,8582,9781,Lester's sign,HPO,phenotype,PHENOTYPE_8582
8583,8583,8583,8583,8583,8583,8583,8583,11896,Subconjunctival hemorrhage,HPO,phenotype,PHENOTYPE_8583
8584,8584,8584,8584,8584,8584,8584,8584,8676,Congenital megaureter,HPO,phenotype,PHENOTYPE_8584
8585,8585,8585,8585,8585,8585,8585,8585,12690,T2 hypointense thalamus,HPO,phenotype,PHENOTYPE_8585
8586,8586,8586,8586,8586,8586,8586,8586,410347,Increased urinary high-mannose-type oligosaccharide,HPO,phenotype,PHENOTYPE_8586
8587,8587,8587,8587,8587,8587,8587,8587,9049,Peroneal muscle atrophy,HPO,phenotype,PHENOTYPE_8587
8588,8588,8588,8588,8588,8588,8588,8588,12708,Reduced brain N-acetyl aspartate level by MRS,HPO,phenotype,PHENOTYPE_8588
8589,8589,8589,8589,8589,8589,8589,8589,5736,Short tibia,HPO,phenotype,PHENOTYPE_8589
8590,8590,8590,8590,8590,8590,8590,8590,11025,Abnormal cardiovascular system physiology,HPO,phenotype,PHENOTYPE_8590
8591,8591,8591,8591,8591,8591,8591,8591,30120,Absent muscle fiber calpain-3,HPO,phenotype,PHENOTYPE_8591
8592,8592,8592,8592,8592,8592,8592,8592,11266,"Microtia, first degree",HPO,phenotype,PHENOTYPE_8592
8593,8593,8593,8593,8593,8593,8593,8593,40331,Focal hypointensity of cerebral white matter on MRI,HPO,phenotype,PHENOTYPE_8593
8594,8594,8594,8594,8594,8594,8594,8594,31122,Two-raphe bicuspid aortic valve,HPO,phenotype,PHENOTYPE_8594
8595,8595,8595,8595,8595,8595,8595,8595,31667,Holosystolic murmur,HPO,phenotype,PHENOTYPE_8595
8596,8596,8596,8596,8596,8596,8596,8596,32756,Focal impaired awareness cognitive seizure,HPO,phenotype,PHENOTYPE_8596
8597,8597,8597,8597,8597,8597,8597,8597,34528,Reduced fibroblast type III procollagen synthesis,HPO,phenotype,PHENOTYPE_8597
8598,8598,8598,8598,8598,8598,8598,8598,11256,Crus of helix connected to antihelix,HPO,phenotype,PHENOTYPE_8598
8599,8599,8599,8599,8599,8599,8599,8599,34497,Increased urinary hexanoic acid level,HPO,phenotype,PHENOTYPE_8599
8600,8600,8600,8600,8600,8600,8600,8600,100459,Osteolytic defects of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_8600
8601,8601,8601,8601,8601,8601,8601,8601,11341,Long upper lip,HPO,phenotype,PHENOTYPE_8601
8602,8602,8602,8602,8602,8602,8602,8602,6000302,History of compressive footwear,HPO,phenotype,PHENOTYPE_8602
8603,8603,8603,8603,8603,8603,8603,8603,200125,Mitochondrial respiratory chain defects,HPO,phenotype,PHENOTYPE_8603
8604,8604,8604,8604,8604,8604,8604,8604,40228,Decreased level of plasminogen,HPO,phenotype,PHENOTYPE_8604
8605,8605,8605,8605,8605,8605,8605,8605,7924,Slow decrease in visual acuity,HPO,phenotype,PHENOTYPE_8605
8606,8606,8606,8606,8606,8606,8606,8606,4122,Midline defect of the nose,HPO,phenotype,PHENOTYPE_8606
8607,8607,8607,8607,8607,8607,8607,8607,947,Dumbbell-shaped long bone,HPO,phenotype,PHENOTYPE_8607
8608,8608,8608,8608,8608,8608,8608,8608,100070,Fragmentation of the epiphyses of the 4th toe,HPO,phenotype,PHENOTYPE_8608
8609,8609,8609,8609,8609,8609,8609,8609,2731,Decreased lymphocyte apoptosis,HPO,phenotype,PHENOTYPE_8609
8610,8610,8610,8610,8610,8610,8610,8610,410186,Increased glucose-6-phosphate dehydrogenase level in tissue,HPO,phenotype,PHENOTYPE_8610
8611,8611,8611,8611,8611,8611,8611,8611,4345,Ganglioside accumulation,HPO,phenotype,PHENOTYPE_8611
8612,8612,8612,8612,8612,8612,8612,8612,11821,Abnormal facial skeleton morphology,HPO,phenotype,PHENOTYPE_8612
8613,8613,8613,8613,8613,8613,8613,8613,30522,Mild constriction of peripheral visual field,HPO,phenotype,PHENOTYPE_8613
8614,8614,8614,8614,8614,8614,8614,8614,10034,Short 1st metacarpal,HPO,phenotype,PHENOTYPE_8614
8615,8615,8615,8615,8615,8615,8615,8615,6000561,Elevated red cell pyruvate kinase activity,HPO,phenotype,PHENOTYPE_8615
8616,8616,8616,8616,8616,8616,8616,8616,25095,Sneeze,HPO,phenotype,PHENOTYPE_8616
8617,8617,8617,8617,8617,8617,8617,8617,12012,EEG with parietal focal spike waves,HPO,phenotype,PHENOTYPE_8617
8618,8618,8618,8618,8618,8618,8618,8618,100795,Abnormally straight spine,HPO,phenotype,PHENOTYPE_8618
8619,8619,8619,8619,8619,8619,8619,8619,34688,Reduced peroxisomal glutaryl-CoA oxidase activity,HPO,phenotype,PHENOTYPE_8619
8620,8620,8620,8620,8620,8620,8620,8620,100962,Excessive shyness,HPO,phenotype,PHENOTYPE_8620
8621,8621,8621,8621,8621,8621,8621,8621,10804,Tented upper lip vermilion,HPO,phenotype,PHENOTYPE_8621
8622,8622,8622,8622,8622,8622,8622,8622,2763,Abnormal cartilage morphology,HPO,phenotype,PHENOTYPE_8622
8623,8623,8623,8623,8623,8623,8623,8623,6000906,Positive bloodstream cryptococcus culture,HPO,phenotype,PHENOTYPE_8623
8624,8624,8624,8624,8624,8624,8624,8624,30790,Abnormal cerumen color,HPO,phenotype,PHENOTYPE_8624
8625,8625,8625,8625,8625,8625,8625,8625,9345,Triangular epiphysis of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_8625
8626,8626,8626,8626,8626,8626,8626,8626,10647,Abnormal elasticity of skin,HPO,phenotype,PHENOTYPE_8626
8627,8627,8627,8627,8627,8627,8627,8627,5200239,Consonant expressive impediment,HPO,phenotype,PHENOTYPE_8627
8628,8628,8628,8628,8628,8628,8628,8628,2037,Inflammation of the large intestine,HPO,phenotype,PHENOTYPE_8628
8629,8629,8629,8629,8629,8629,8629,8629,2212,Curly hair,HPO,phenotype,PHENOTYPE_8629
8630,8630,8630,8630,8630,8630,8630,8630,5200124,Indifference to social norms,HPO,phenotype,PHENOTYPE_8630
8631,8631,8631,8631,8631,8631,8631,8631,32365,Exacerbated by aspirin exposure,HPO,phenotype,PHENOTYPE_8631
8632,8632,8632,8632,8632,8632,8632,8632,40260,Decreased size of nasopharyngeal adenoids,HPO,phenotype,PHENOTYPE_8632
8633,8633,8633,8633,8633,8633,8633,8633,12493,Middle cerebral artery stenosis,HPO,phenotype,PHENOTYPE_8633
8634,8634,8634,8634,8634,8634,8634,8634,34380,Juvenile type testicular granulosa cell tumor,HPO,phenotype,PHENOTYPE_8634
8635,8635,8635,8635,8635,8635,8635,8635,32163,Molluscum contagiosum,HPO,phenotype,PHENOTYPE_8635
8636,8636,8636,8636,8636,8636,8636,8636,11968,Feeding difficulties,HPO,phenotype,PHENOTYPE_8636
8637,8637,8637,8637,8637,8637,8637,8637,34572,Pigment incontinence,HPO,phenotype,PHENOTYPE_8637
8638,8638,8638,8638,8638,8638,8638,8638,12323,Sleep myoclonus,HPO,phenotype,PHENOTYPE_8638
8639,8639,8639,8639,8639,8639,8639,8639,34779,Perineal,HPO,phenotype,PHENOTYPE_8639
8640,8640,8640,8640,8640,8640,8640,8640,31380,Abnormal B cell proliferation,HPO,phenotype,PHENOTYPE_8640
8641,8641,8641,8641,8641,8641,8641,8641,32805,Focal impaired awareness sensory seizure with vestibular features,HPO,phenotype,PHENOTYPE_8641
8642,8642,8642,8642,8642,8642,8642,8642,32277,Lozenge-shaped umbilicus,HPO,phenotype,PHENOTYPE_8642
8643,8643,8643,8643,8643,8643,8643,8643,6000086,History of urethral procedure or catheterization,HPO,phenotype,PHENOTYPE_8643
8644,8644,8644,8644,8644,8644,8644,8644,4000072,Abnormal language feature,HPO,phenotype,PHENOTYPE_8644
8645,8645,8645,8645,8645,8645,8645,8645,12589,Multidrug-resistant nephrotic syndrome,HPO,phenotype,PHENOTYPE_8645
8646,8646,8646,8646,8646,8646,8646,8646,100447,Curved proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_8646
8647,8647,8647,8647,8647,8647,8647,8647,34906,Increased urine pentacarboxylporphyrin level,HPO,phenotype,PHENOTYPE_8647
8648,8648,8648,8648,8648,8648,8648,8648,962,Hyperkeratosis,HPO,phenotype,PHENOTYPE_8648
8649,8649,8649,8649,8649,8649,8649,8649,872,Hashimoto thyroiditis,HPO,phenotype,PHENOTYPE_8649
8650,8650,8650,8650,8650,8650,8650,8650,2505,Loss of ambulation,HPO,phenotype,PHENOTYPE_8650
8651,8651,8651,8651,8651,8651,8651,8651,34668,Tongue myxoma,HPO,phenotype,PHENOTYPE_8651
8652,8652,8652,8652,8652,8652,8652,8652,30639,Congenital stationary night blindness with abnormal fundus,HPO,phenotype,PHENOTYPE_8652
8653,8653,8653,8653,8653,8653,8653,8653,168,Abnormality of the gingiva,HPO,phenotype,PHENOTYPE_8653
8654,8654,8654,8654,8654,8654,8654,8654,31513,Luse bodies,HPO,phenotype,PHENOTYPE_8654
8655,8655,8655,8655,8655,8655,8655,8655,6000164,Pregnancy conceived despite intrauterine device,HPO,phenotype,PHENOTYPE_8655
8656,8656,8656,8656,8656,8656,8656,8656,12167,Hair-pulling,HPO,phenotype,PHENOTYPE_8656
8657,8657,8657,8657,8657,8657,8657,8657,9776,Adactyly,HPO,phenotype,PHENOTYPE_8657
8658,8658,8658,8658,8658,8658,8658,8658,4492,Widely patent fontanelles and sutures,HPO,phenotype,PHENOTYPE_8658
8659,8659,8659,8659,8659,8659,8659,8659,12272,J wave,HPO,phenotype,PHENOTYPE_8659
8660,8660,8660,8660,8660,8660,8660,8660,5244,Gastrointestinal infarctions,HPO,phenotype,PHENOTYPE_8660
8661,8661,8661,8661,8661,8661,8661,8661,3000055,Abnormality of inferior alveolar nerve,HPO,phenotype,PHENOTYPE_8661
8662,8662,8662,8662,8662,8662,8662,8662,40329,Multifocal hyperintensity of cerebral white matter on MRI,HPO,phenotype,PHENOTYPE_8662
8663,8663,8663,8663,8663,8663,8663,8663,6384,Club-shaped distal femur,HPO,phenotype,PHENOTYPE_8663
8664,8664,8664,8664,8664,8664,8664,8664,11844,Abnormal appendicular skeleton morphology,HPO,phenotype,PHENOTYPE_8664
8665,8665,8665,8665,8665,8665,8665,8665,6174,Metacarpal diaphyseal endosteal sclerosis,HPO,phenotype,PHENOTYPE_8665
8666,8666,8666,8666,8666,8666,8666,8666,25176,Intralobular interstitial thickening,HPO,phenotype,PHENOTYPE_8666
8667,8667,8667,8667,8667,8667,8667,8667,4712,Renal malrotation,HPO,phenotype,PHENOTYPE_8667
8668,8668,8668,8668,8668,8668,8668,8668,100934,Sclerosis of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_8668
8669,8669,8669,8669,8669,8669,8669,8669,10103,Short distal phalanx of hallux,HPO,phenotype,PHENOTYPE_8669
8670,8670,8670,8670,8670,8670,8670,8670,33415,Cardiac tamponade,HPO,phenotype,PHENOTYPE_8670
8671,8671,8671,8671,8671,8671,8671,8671,100013,Neoplasm of the breast,HPO,phenotype,PHENOTYPE_8671
8672,8672,8672,8672,8672,8672,8672,8672,5200049,Atypical sorting,HPO,phenotype,PHENOTYPE_8672
8673,8673,8673,8673,8673,8673,8673,8673,31688,Erythroid dysplasia,HPO,phenotype,PHENOTYPE_8673
8674,8674,8674,8674,8674,8674,8674,8674,10157,Small epiphysis of the 1st metatarsal,HPO,phenotype,PHENOTYPE_8674
8675,8675,8675,8675,8675,8675,8675,8675,30092,Reduced muscle fiber merosin,HPO,phenotype,PHENOTYPE_8675
8676,8676,8676,8676,8676,8676,8676,8676,6001115,EEG with temporal slowing,HPO,phenotype,PHENOTYPE_8676
8677,8677,8677,8677,8677,8677,8677,8677,34428,Megaloblepharon,HPO,phenotype,PHENOTYPE_8677
8678,8678,8678,8678,8678,8678,8678,8678,5200204,Disturbed perception with a stimulus,HPO,phenotype,PHENOTYPE_8678
8679,8679,8679,8679,8679,8679,8679,8679,31207,Hepatic hemangioma,HPO,phenotype,PHENOTYPE_8679
8680,8680,8680,8680,8680,8680,8680,8680,200104,Absent fifth fingernail,HPO,phenotype,PHENOTYPE_8680
8681,8681,8681,8681,8681,8681,8681,8681,3000034,Abnormality nasal septum cartilage morphology,HPO,phenotype,PHENOTYPE_8681
8682,8682,8682,8682,8682,8682,8682,8682,10511,Long toe,HPO,phenotype,PHENOTYPE_8682
8683,8683,8683,8683,8683,8683,8683,8683,34990,Shoulder abduction contracture,HPO,phenotype,PHENOTYPE_8683
8684,8684,8684,8684,8684,8684,8684,8684,3185,Short greater sciatic notch,HPO,phenotype,PHENOTYPE_8684
8685,8685,8685,8685,8685,8685,8685,8685,32424,Increased HDL2b concentration,HPO,phenotype,PHENOTYPE_8685
8686,8686,8686,8686,8686,8686,8686,8686,100874,Thick hair,HPO,phenotype,PHENOTYPE_8686
8687,8687,8687,8687,8687,8687,8687,8687,2791,Hypoventilation,HPO,phenotype,PHENOTYPE_8687
8688,8688,8688,8688,8688,8688,8688,8688,2545,Patchy demyelination of subcortical white matter,HPO,phenotype,PHENOTYPE_8688
8689,8689,8689,8689,8689,8689,8689,8689,4921,Abnormal magnesium concentration,HPO,phenotype,PHENOTYPE_8689
8690,8690,8690,8690,8690,8690,8690,8690,9230,Osteolytic defects of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_8690
8691,8691,8691,8691,8691,8691,8691,8691,7875,Congenital blindness,HPO,phenotype,PHENOTYPE_8691
8692,8692,8692,8692,8692,8692,8692,8692,2215,Sparse axillary hair,HPO,phenotype,PHENOTYPE_8692
8693,8693,8693,8693,8693,8693,8693,8693,31128,Impaired collagen-related peptide-induced platelet aggregation,HPO,phenotype,PHENOTYPE_8693
8694,8694,8694,8694,8694,8694,8694,8694,4000057,Decreased FasL-mediated apoptosis,HPO,phenotype,PHENOTYPE_8694
8695,8695,8695,8695,8695,8695,8695,8695,34042,Dorsal hirsutism,HPO,phenotype,PHENOTYPE_8695
8696,8696,8696,8696,8696,8696,8696,8696,100959,Dense metaphyseal bands,HPO,phenotype,PHENOTYPE_8696
8697,8697,8697,8697,8697,8697,8697,8697,6000730,Positive CSF human T-lymphotropic virus type I antibody positivity,HPO,phenotype,PHENOTYPE_8697
8698,8698,8698,8698,8698,8698,8698,8698,6267,Large placenta,HPO,phenotype,PHENOTYPE_8698
8699,8699,8699,8699,8699,8699,8699,8699,4408,Abnormality of the sense of smell,HPO,phenotype,PHENOTYPE_8699
8700,8700,8700,8700,8700,8700,8700,8700,7181,Interosseus muscle atrophy,HPO,phenotype,PHENOTYPE_8700
8701,8701,8701,8701,8701,8701,8701,8701,100875,Hemimacroglossia,HPO,phenotype,PHENOTYPE_8701
8702,8702,8702,8702,8702,8702,8702,8702,1222,Spatulate thumbs,HPO,phenotype,PHENOTYPE_8702
8703,8703,8703,8703,8703,8703,8703,8703,6001198,Scapholunate interval widening,HPO,phenotype,PHENOTYPE_8703
8704,8704,8704,8704,8704,8704,8704,8704,32039,Abnormality of the ocular adnexa,HPO,phenotype,PHENOTYPE_8704
8705,8705,8705,8705,8705,8705,8705,8705,7475,Congenital bullous ichthyosiform erythroderma,HPO,phenotype,PHENOTYPE_8705
8706,8706,8706,8706,8706,8706,8706,8706,10260,Enlarged epiphyses of the middle phalanges of the hand,HPO,phenotype,PHENOTYPE_8706
8707,8707,8707,8707,8707,8707,8707,8707,30309,Flared distal fibular metaphysis,HPO,phenotype,PHENOTYPE_8707
8708,8708,8708,8708,8708,8708,8708,8708,32727,Focal emotional seizure with agitation,HPO,phenotype,PHENOTYPE_8708
8709,8709,8709,8709,8709,8709,8709,8709,34441,Decreased circulating aspartic acid concentration,HPO,phenotype,PHENOTYPE_8709
8710,8710,8710,8710,8710,8710,8710,8710,6000955,Ocular cystine crystal deposition,HPO,phenotype,PHENOTYPE_8710
8711,8711,8711,8711,8711,8711,8711,8711,500198,Decreased CSF glutamine concentration,HPO,phenotype,PHENOTYPE_8711
8712,8712,8712,8712,8712,8712,8712,8712,6406,Club-shaped proximal femur,HPO,phenotype,PHENOTYPE_8712
8713,8713,8713,8713,8713,8713,8713,8713,10142,Fragmentation of the epiphysis of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_8713
8714,8714,8714,8714,8714,8714,8714,8714,34870,Reduced circulating urocanic acid concentration,HPO,phenotype,PHENOTYPE_8714
8715,8715,8715,8715,8715,8715,8715,8715,6070,Metacarpophalangeal joint contracture,HPO,phenotype,PHENOTYPE_8715
8716,8716,8716,8716,8716,8716,8716,8716,4000132,Exacerbated by phenytoin exposure,HPO,phenotype,PHENOTYPE_8716
8717,8717,8717,8717,8717,8717,8717,8717,40016,Prominent coccyx,HPO,phenotype,PHENOTYPE_8717
8718,8718,8718,8718,8718,8718,8718,8718,30843,Cardiac amyloidosis,HPO,phenotype,PHENOTYPE_8718
8719,8719,8719,8719,8719,8719,8719,8719,6000416,T2 hyperintense cerebellar lesion,HPO,phenotype,PHENOTYPE_8719
8720,8720,8720,8720,8720,8720,8720,8720,400002,Extra concha fold,HPO,phenotype,PHENOTYPE_8720
8721,8721,8721,8721,8721,8721,8721,8721,12549,Conjunctival lipoma,HPO,phenotype,PHENOTYPE_8721
8722,8722,8722,8722,8722,8722,8722,8722,25350,Giant conjunctival papillae,HPO,phenotype,PHENOTYPE_8722
8723,8723,8723,8723,8723,8723,8723,8723,6432,Trapezoidal distal femoral condyles,HPO,phenotype,PHENOTYPE_8723
8724,8724,8724,8724,8724,8724,8724,8724,481,Abnormal cornea morphology,HPO,phenotype,PHENOTYPE_8724
8725,8725,8725,8725,8725,8725,8725,8725,8963,Tibialis muscle weakness,HPO,phenotype,PHENOTYPE_8725
8726,8726,8726,8726,8726,8726,8726,8726,6000258,Impaired folate absorption,HPO,phenotype,PHENOTYPE_8726
8727,8727,8727,8727,8727,8727,8727,8727,12801,Narrow jaw,HPO,phenotype,PHENOTYPE_8727
8728,8728,8728,8728,8728,8728,8728,8728,227,Tongue telangiectasia,HPO,phenotype,PHENOTYPE_8728
8729,8729,8729,8729,8729,8729,8729,8729,6000323,Reduced sympathoneural responses to the cold pressor test,HPO,phenotype,PHENOTYPE_8729
8730,8730,8730,8730,8730,8730,8730,8730,8428,Vertebral clefting,HPO,phenotype,PHENOTYPE_8730
8731,8731,8731,8731,8731,8731,8731,8731,1493,Falciform retinal fold,HPO,phenotype,PHENOTYPE_8731
8732,8732,8732,8732,8732,8732,8732,8732,11405,Childhood onset short-limb short stature,HPO,phenotype,PHENOTYPE_8732
8733,8733,8733,8733,8733,8733,8733,8733,7371,Corpus callosum atrophy,HPO,phenotype,PHENOTYPE_8733
8734,8734,8734,8734,8734,8734,8734,8734,34531,Tracheal rupture,HPO,phenotype,PHENOTYPE_8734
8735,8735,8735,8735,8735,8735,8735,8735,4299,Hernia of the abdominal wall,HPO,phenotype,PHENOTYPE_8735
8736,8736,8736,8736,8736,8736,8736,8736,410303,Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine,HPO,phenotype,PHENOTYPE_8736
8737,8737,8737,8737,8737,8737,8737,8737,7232,Spinocerebellar tract disease in lower limbs,HPO,phenotype,PHENOTYPE_8737
8738,8738,8738,8738,8738,8738,8738,8738,34923,Reduced liver carboxylesterase 1 activity,HPO,phenotype,PHENOTYPE_8738
8739,8739,8739,8739,8739,8739,8739,8739,4474,Persistent open anterior fontanelle,HPO,phenotype,PHENOTYPE_8739
8740,8740,8740,8740,8740,8740,8740,8740,4000144,Recent past medical history,HPO,phenotype,PHENOTYPE_8740
8741,8741,8741,8741,8741,8741,8741,8741,33944,Arcuate vein medial/intimal liquefactive necrosis,HPO,phenotype,PHENOTYPE_8741
8742,8742,8742,8742,8742,8742,8742,8742,6000205,Elevated CSF myelin basic protein concentration,HPO,phenotype,PHENOTYPE_8742
8743,8743,8743,8743,8743,8743,8743,8743,6000292,Elevated tissue sphingomyelin concentration,HPO,phenotype,PHENOTYPE_8743
8744,8744,8744,8744,8744,8744,8744,8744,5357,Defective B cell differentiation,HPO,phenotype,PHENOTYPE_8744
8745,8745,8745,8745,8745,8745,8745,8745,410299,Decreased specific antibody response to polysaccharide vaccine,HPO,phenotype,PHENOTYPE_8745
8746,8746,8746,8746,8746,8746,8746,8746,31225,Intrapulmonary shunt,HPO,phenotype,PHENOTYPE_8746
8747,8747,8747,8747,8747,8747,8747,8747,34342,Trapezius muscle aplasia,HPO,phenotype,PHENOTYPE_8747
8748,8748,8748,8748,8748,8748,8748,8748,100046,Cone-shaped epiphyses of the 2nd toe,HPO,phenotype,PHENOTYPE_8748
8749,8749,8749,8749,8749,8749,8749,8749,5201016,Submucous cleft palate,HPO,phenotype,PHENOTYPE_8749
8750,8750,8750,8750,8750,8750,8750,8750,100401,Duplication of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_8750
8751,8751,8751,8751,8751,8751,8751,8751,6895,Lower limb hypertonia,HPO,phenotype,PHENOTYPE_8751
8752,8752,8752,8752,8752,8752,8752,8752,32257,Disseminated histoplasmosis,HPO,phenotype,PHENOTYPE_8752
8753,8753,8753,8753,8753,8753,8753,8753,6000566,Elevated circulating lipoprotein X concentration,HPO,phenotype,PHENOTYPE_8753
8754,8754,8754,8754,8754,8754,8754,8754,9799,Supernumerary spleens,HPO,phenotype,PHENOTYPE_8754
8755,8755,8755,8755,8755,8755,8755,8755,100328,Carpometacarpal synostosis,HPO,phenotype,PHENOTYPE_8755
8756,8756,8756,8756,8756,8756,8756,8756,1988,Recurrent hypoglycemia,HPO,phenotype,PHENOTYPE_8756
8757,8757,8757,8757,8757,8757,8757,8757,2506,Diffuse cerebral atrophy,HPO,phenotype,PHENOTYPE_8757
8758,8758,8758,8758,8758,8758,8758,8758,8461,Cervical vertebral facet hypoplasia,HPO,phenotype,PHENOTYPE_8758
8759,8759,8759,8759,8759,8759,8759,8759,2585,Abnormal peritoneum morphology,HPO,phenotype,PHENOTYPE_8759
8760,8760,8760,8760,8760,8760,8760,8760,32466,Aplasia of the olfactory bulb,HPO,phenotype,PHENOTYPE_8760
8761,8761,8761,8761,8761,8761,8761,8761,11384,Abnormality of the internal auditory canal,HPO,phenotype,PHENOTYPE_8761
8762,8762,8762,8762,8762,8762,8762,8762,100163,Ivory epiphysis of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_8762
8763,8763,8763,8763,8763,8763,8763,8763,33348,Epileptic aura,HPO,phenotype,PHENOTYPE_8763
8764,8764,8764,8764,8764,8764,8764,8764,95,Abnormal renal glomerulus morphology,HPO,phenotype,PHENOTYPE_8764
8765,8765,8765,8765,8765,8765,8765,8765,4034,Irregular olecranon,HPO,phenotype,PHENOTYPE_8765
8766,8766,8766,8766,8766,8766,8766,8766,3208,Fingerprint intracellular accumulation of autofluorescent lipopigment storage material,HPO,phenotype,PHENOTYPE_8766
8767,8767,8767,8767,8767,8767,8767,8767,1646,Abnormal aortic valve morphology,HPO,phenotype,PHENOTYPE_8767
8768,8768,8768,8768,8768,8768,8768,8768,10379,Duplication of phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_8768
8769,8769,8769,8769,8769,8769,8769,8769,10059,Broad hallux phalanx,HPO,phenotype,PHENOTYPE_8769
8770,8770,8770,8770,8770,8770,8770,8770,32601,Multinucleation of renal tubular epithelial cells,HPO,phenotype,PHENOTYPE_8770
8771,8771,8771,8771,8771,8771,8771,8771,31098,Decreased thyroid-stimulating hormone level,HPO,phenotype,PHENOTYPE_8771
8772,8772,8772,8772,8772,8772,8772,8772,3106,Subperiosteal bone resorption,HPO,phenotype,PHENOTYPE_8772
8773,8773,8773,8773,8773,8773,8773,8773,3022,Hypoplasia of the ulna,HPO,phenotype,PHENOTYPE_8773
8774,8774,8774,8774,8774,8774,8774,8774,25791,Delusion of guilt,HPO,phenotype,PHENOTYPE_8774
8775,8775,8775,8775,8775,8775,8775,8775,30424,Epididymal cyst,HPO,phenotype,PHENOTYPE_8775
8776,8776,8776,8776,8776,8776,8776,8776,9999,Partial duplication of the phalanx of hand,HPO,phenotype,PHENOTYPE_8776
8777,8777,8777,8777,8777,8777,8777,8777,33305,Abnormal circulating fetuin A concentration,HPO,phenotype,PHENOTYPE_8777
8778,8778,8778,8778,8778,8778,8778,8778,8964,Nonprogressive muscular atrophy,HPO,phenotype,PHENOTYPE_8778
8779,8779,8779,8779,8779,8779,8779,8779,6000464,Squared off shoulders,HPO,phenotype,PHENOTYPE_8779
8780,8780,8780,8780,8780,8780,8780,8780,32121,Froment sign,HPO,phenotype,PHENOTYPE_8780
8781,8781,8781,8781,8781,8781,8781,8781,475,Broad neck,HPO,phenotype,PHENOTYPE_8781
8782,8782,8782,8782,8782,8782,8782,8782,256,Macrocephaly,HPO,phenotype,PHENOTYPE_8782
8783,8783,8783,8783,8783,8783,8783,8783,40205,Decreased CSF neopterin level,HPO,phenotype,PHENOTYPE_8783
8784,8784,8784,8784,8784,8784,8784,8784,31251,Abnormal subclavian artery morphology,HPO,phenotype,PHENOTYPE_8784
8785,8785,8785,8785,8785,8785,8785,8785,308,Microretrognathia,HPO,phenotype,PHENOTYPE_8785
8786,8786,8786,8786,8786,8786,8786,8786,10545,Downbeat nystagmus,HPO,phenotype,PHENOTYPE_8786
8787,8787,8787,8787,8787,8787,8787,8787,430095,CD10 expression,HPO,phenotype,PHENOTYPE_8787
8788,8788,8788,8788,8788,8788,8788,8788,4396,Poor appetite,HPO,phenotype,PHENOTYPE_8788
8789,8789,8789,8789,8789,8789,8789,8789,25516,Coronary-pulmonary artery fistula,HPO,phenotype,PHENOTYPE_8789
8790,8790,8790,8790,8790,8790,8790,8790,3462,Elevated 8-dehydrocholesterol,HPO,phenotype,PHENOTYPE_8790
8791,8791,8791,8791,8791,8791,8791,8791,430130,Subcortical localization,HPO,phenotype,PHENOTYPE_8791
8792,8792,8792,8792,8792,8792,8792,8792,10790,Hypoplasia of the Leydig cells,HPO,phenotype,PHENOTYPE_8792
8793,8793,8793,8793,8793,8793,8793,8793,100241,Ectopic respiratory mucosa,HPO,phenotype,PHENOTYPE_8793
8794,8794,8794,8794,8794,8794,8794,8794,3452,Increased circulating iron concentration,HPO,phenotype,PHENOTYPE_8794
8795,8795,8795,8795,8795,8795,8795,8795,33063,Shortened sleep phase,HPO,phenotype,PHENOTYPE_8795
8796,8796,8796,8796,8796,8796,8796,8796,8537,Cleft at the superior portion of the pinna,HPO,phenotype,PHENOTYPE_8796
8797,8797,8797,8797,8797,8797,8797,8797,31648,Penetrating aortic ulcer,HPO,phenotype,PHENOTYPE_8797
8798,8798,8798,8798,8798,8798,8798,8798,6001103,Entoptic phenomenon,HPO,phenotype,PHENOTYPE_8798
8799,8799,8799,8799,8799,8799,8799,8799,2984,Hypoplasia of the radius,HPO,phenotype,PHENOTYPE_8799
8800,8800,8800,8800,8800,8800,8800,8800,5942,Desquamative interstitial pneumonitis,HPO,phenotype,PHENOTYPE_8800
8801,8801,8801,8801,8801,8801,8801,8801,430071,Abnormal circulating organic compound concentration,HPO,phenotype,PHENOTYPE_8801
8802,8802,8802,8802,8802,8802,8802,8802,31538,Abnormal dermoepidermal junction morphology,HPO,phenotype,PHENOTYPE_8802
8803,8803,8803,8803,8803,8803,8803,8803,1348,Brisk reflexes,HPO,phenotype,PHENOTYPE_8803
8804,8804,8804,8804,8804,8804,8804,8804,10891,Morbus Scheuermann,HPO,phenotype,PHENOTYPE_8804
8805,8805,8805,8805,8805,8805,8805,8805,33320,Mesangial cell loss,HPO,phenotype,PHENOTYPE_8805
8806,8806,8806,8806,8806,8806,8806,8806,4451,Postauricular skin tag,HPO,phenotype,PHENOTYPE_8806
8807,8807,8807,8807,8807,8807,8807,8807,6426,Rudimentary to absent tibiae,HPO,phenotype,PHENOTYPE_8807
8808,8808,8808,8808,8808,8808,8808,8808,30213,Emotional dearth,HPO,phenotype,PHENOTYPE_8808
8809,8809,8809,8809,8809,8809,8809,8809,5949,Apneic episodes in infancy,HPO,phenotype,PHENOTYPE_8809
8810,8810,8810,8810,8810,8810,8810,8810,6000589,Esophageal dilation,HPO,phenotype,PHENOTYPE_8810
8811,8811,8811,8811,8811,8811,8811,8811,405,Conductive hearing impairment,HPO,phenotype,PHENOTYPE_8811
8812,8812,8812,8812,8812,8812,8812,8812,7595,Redundant skin in infancy,HPO,phenotype,PHENOTYPE_8812
8813,8813,8813,8813,8813,8813,8813,8813,100613,Death in early adulthood,HPO,phenotype,PHENOTYPE_8813
8814,8814,8814,8814,8814,8814,8814,8814,5200104,Abnormal play,HPO,phenotype,PHENOTYPE_8814
8815,8815,8815,8815,8815,8815,8815,8815,32506,Alien limb phenomenon,HPO,phenotype,PHENOTYPE_8815
8816,8816,8816,8816,8816,8816,8816,8816,34152,Anti-histidyl tRNA synthetase antibody positivity,HPO,phenotype,PHENOTYPE_8816
8817,8817,8817,8817,8817,8817,8817,8817,11907,Reduced alpha/beta synthesis ratio,HPO,phenotype,PHENOTYPE_8817
8818,8818,8818,8818,8818,8818,8818,8818,32972,Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT,HPO,phenotype,PHENOTYPE_8818
8819,8819,8819,8819,8819,8819,8819,8819,10914,Abnormal circulating valine concentration,HPO,phenotype,PHENOTYPE_8819
8820,8820,8820,8820,8820,8820,8820,8820,40402,Nipple localization,HPO,phenotype,PHENOTYPE_8820
8821,8821,8821,8821,8821,8821,8821,8821,31354,Sleep onset insomnia,HPO,phenotype,PHENOTYPE_8821
8822,8822,8822,8822,8822,8822,8822,8822,1469,Abnormal morphology of the pelvis musculature,HPO,phenotype,PHENOTYPE_8822
8823,8823,8823,8823,8823,8823,8823,8823,25799,Abnormal wrist physiology,HPO,phenotype,PHENOTYPE_8823
8824,8824,8824,8824,8824,8824,8824,8824,1435,Abnormality of the shoulder girdle musculature,HPO,phenotype,PHENOTYPE_8824
8825,8825,8825,8825,8825,8825,8825,8825,32346,Cutaneous lichen amyloidosis,HPO,phenotype,PHENOTYPE_8825
8826,8826,8826,8826,8826,8826,8826,8826,34136,Anti-neurofascin 186 antibody positivity,HPO,phenotype,PHENOTYPE_8826
8827,8827,8827,8827,8827,8827,8827,8827,6000753,Elevated circulating monomethyl sterol concentration,HPO,phenotype,PHENOTYPE_8827
8828,8828,8828,8828,8828,8828,8828,8828,31898,Rouleaux formation,HPO,phenotype,PHENOTYPE_8828
8829,8829,8829,8829,8829,8829,8829,8829,20223,Dermal sinus tract,HPO,phenotype,PHENOTYPE_8829
8830,8830,8830,8830,8830,8830,8830,8830,10399,Osteolytic defects of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_8830
8831,8831,8831,8831,8831,8831,8831,8831,410341,Abnormal circulating heparan sulfate level,HPO,phenotype,PHENOTYPE_8831
8832,8832,8832,8832,8832,8832,8832,8832,20292,Decreased lymph-node cellular CD20 expression,HPO,phenotype,PHENOTYPE_8832
8833,8833,8833,8833,8833,8833,8833,8833,100866,Short iliac bones,HPO,phenotype,PHENOTYPE_8833
8834,8834,8834,8834,8834,8834,8834,8834,31540,Linear IgG deposits along the epidermal basement membrane zone,HPO,phenotype,PHENOTYPE_8834
8835,8835,8835,8835,8835,8835,8835,8835,430007,Symblepharon,HPO,phenotype,PHENOTYPE_8835
8836,8836,8836,8836,8836,8836,8836,8836,31270,Decreased CD25 upregulation upon TCR activation,HPO,phenotype,PHENOTYPE_8836
8837,8837,8837,8837,8837,8837,8837,8837,9287,Curved middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_8837
8838,8838,8838,8838,8838,8838,8838,8838,31239,Extrafoveal choroidal neovascularization,HPO,phenotype,PHENOTYPE_8838
8839,8839,8839,8839,8839,8839,8839,8839,7481,Hyperpigmented nevi,HPO,phenotype,PHENOTYPE_8839
8840,8840,8840,8840,8840,8840,8840,8840,100500,Fibular deviation of toes,HPO,phenotype,PHENOTYPE_8840
8841,8841,8841,8841,8841,8841,8841,8841,31430,Oligoclonal T cell expansion,HPO,phenotype,PHENOTYPE_8841
8842,8842,8842,8842,8842,8842,8842,8842,12481,Cerebral venous angioma,HPO,phenotype,PHENOTYPE_8842
8843,8843,8843,8843,8843,8843,8843,8843,100281,Chronic colitis,HPO,phenotype,PHENOTYPE_8843
8844,8844,8844,8844,8844,8844,8844,8844,10424,Complete duplication of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_8844
8845,8845,8845,8845,8845,8845,8845,8845,7374,Atrophy/Degeneration involving the caudate nucleus,HPO,phenotype,PHENOTYPE_8845
8846,8846,8846,8846,8846,8846,8846,8846,9311,Bullet-shaped proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_8846
8847,8847,8847,8847,8847,8847,8847,8847,5340,Spastic/hyperactive bladder,HPO,phenotype,PHENOTYPE_8847
8848,8848,8848,8848,8848,8848,8848,8848,31265,Abnormal glomerular visceral epithelial cell morphology,HPO,phenotype,PHENOTYPE_8848
8849,8849,8849,8849,8849,8849,8849,8849,1580,Pigmented micronodular adrenocortical disease,HPO,phenotype,PHENOTYPE_8849
8850,8850,8850,8850,8850,8850,8850,8850,100079,Cone-shaped epiphyses of the 5th toe,HPO,phenotype,PHENOTYPE_8850
8851,8851,8851,8851,8851,8851,8851,8851,100025,Overfriendliness,HPO,phenotype,PHENOTYPE_8851
8852,8852,8852,8852,8852,8852,8852,8852,410222,Increased anti-seafood IgE antibody level,HPO,phenotype,PHENOTYPE_8852
8853,8853,8853,8853,8853,8853,8853,8853,30807,Abnormal nail growth,HPO,phenotype,PHENOTYPE_8853
8854,8854,8854,8854,8854,8854,8854,8854,31209,Decreased circulating lipoprotein lipase concentration,HPO,phenotype,PHENOTYPE_8854
8855,8855,8855,8855,8855,8855,8855,8855,11225,Epiblepharon,HPO,phenotype,PHENOTYPE_8855
8856,8856,8856,8856,8856,8856,8856,8856,12466,Chronic respiratory acidosis,HPO,phenotype,PHENOTYPE_8856
8857,8857,8857,8857,8857,8857,8857,8857,30180,Oppenheim reflex,HPO,phenotype,PHENOTYPE_8857
8858,8858,8858,8858,8858,8858,8858,8858,7182,Peripheral hypomyelination,HPO,phenotype,PHENOTYPE_8858
8859,8859,8859,8859,8859,8859,8859,8859,8839,Hypoplastic pelvis,HPO,phenotype,PHENOTYPE_8859
8860,8860,8860,8860,8860,8860,8860,8860,11342,Mild global developmental delay,HPO,phenotype,PHENOTYPE_8860
8861,8861,8861,8861,8861,8861,8861,8861,6028,Metaphyseal cupping of metacarpals,HPO,phenotype,PHENOTYPE_8861
8862,8862,8862,8862,8862,8862,8862,8862,100628,Esophageal diverticulum,HPO,phenotype,PHENOTYPE_8862
8863,8863,8863,8863,8863,8863,8863,8863,8065,Aplasia/Hypoplasia of the skin,HPO,phenotype,PHENOTYPE_8863
8864,8864,8864,8864,8864,8864,8864,8864,10601,Abnormal proximal ulnar epiphysis morphology,HPO,phenotype,PHENOTYPE_8864
8865,8865,8865,8865,8865,8865,8865,8865,33344,Pleural cobblestoning,HPO,phenotype,PHENOTYPE_8865
8866,8866,8866,8866,8866,8866,8866,8866,34370,Abnormal muscle tissue metabolite concentration,HPO,phenotype,PHENOTYPE_8866
8867,8867,8867,8867,8867,8867,8867,8867,500060,Retinopathy of prematurity zone II,HPO,phenotype,PHENOTYPE_8867
8868,8868,8868,8868,8868,8868,8868,8868,2374,Diminished movement,HPO,phenotype,PHENOTYPE_8868
8869,8869,8869,8869,8869,8869,8869,8869,5722,Hyperextensible thumb,HPO,phenotype,PHENOTYPE_8869
8870,8870,8870,8870,8870,8870,8870,8870,31598,Notched P wave,HPO,phenotype,PHENOTYPE_8870
8871,8871,8871,8871,8871,8871,8871,8871,30300,10 pairs of ribs,HPO,phenotype,PHENOTYPE_8871
8872,8872,8872,8872,8872,8872,8872,8872,5200311,Amplification of interpersonal communication,HPO,phenotype,PHENOTYPE_8872
8873,8873,8873,8873,8873,8873,8873,8873,34799,Splenic hemophagocytosis,HPO,phenotype,PHENOTYPE_8873
8874,8874,8874,8874,8874,8874,8874,8874,42,Absent external genitalia,HPO,phenotype,PHENOTYPE_8874
8875,8875,8875,8875,8875,8875,8875,8875,8063,Aplasia/Hypoplasia of the lens,HPO,phenotype,PHENOTYPE_8875
8876,8876,8876,8876,8876,8876,8876,8876,5376,Recurrent Haemophilus influenzae infections,HPO,phenotype,PHENOTYPE_8876
8877,8877,8877,8877,8877,8877,8877,8877,30482,Abnormal timing of light-adapted single flash electroretinogram,HPO,phenotype,PHENOTYPE_8877
8878,8878,8878,8878,8878,8878,8878,8878,34897,Decreased circulating antidiuretic hormone concentration,HPO,phenotype,PHENOTYPE_8878
8879,8879,8879,8879,8879,8879,8879,8879,40024,Clinodactyly of the 3rd finger,HPO,phenotype,PHENOTYPE_8879
8880,8880,8880,8880,8880,8880,8880,8880,3158,Hyposthenuria,HPO,phenotype,PHENOTYPE_8880
8881,8881,8881,8881,8881,8881,8881,8881,6000347,Anti-NR2A antibody positivity,HPO,phenotype,PHENOTYPE_8881
8882,8882,8882,8882,8882,8882,8882,8882,34786,Leukocytoclastic vasculitis,HPO,phenotype,PHENOTYPE_8882
8883,8883,8883,8883,8883,8883,8883,8883,34135,Anti-neurofascin-155 antibody positivity,HPO,phenotype,PHENOTYPE_8883
8884,8884,8884,8884,8884,8884,8884,8884,25519,Multiple biliary hamartomas,HPO,phenotype,PHENOTYPE_8884
8885,8885,8885,8885,8885,8885,8885,8885,9282,Abnormality of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_8885
8886,8886,8886,8886,8886,8886,8886,8886,100394,Short middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_8886
8887,8887,8887,8887,8887,8887,8887,8887,11413,Shoulder dystocia,HPO,phenotype,PHENOTYPE_8887
8888,8888,8888,8888,8888,8888,8888,8888,30684,Abnormal adiponectin level,HPO,phenotype,PHENOTYPE_8888
8889,8889,8889,8889,8889,8889,8889,8889,12706,Elevated brain choline level by MRS,HPO,phenotype,PHENOTYPE_8889
8890,8890,8890,8890,8890,8890,8890,8890,32348,Cutaneous nodular amyloidosis,HPO,phenotype,PHENOTYPE_8890
8891,8891,8891,8891,8891,8891,8891,8891,33664,Ganglioglioma,HPO,phenotype,PHENOTYPE_8891
8892,8892,8892,8892,8892,8892,8892,8892,2591,Polyphagia,HPO,phenotype,PHENOTYPE_8892
8893,8893,8893,8893,8893,8893,8893,8893,8583,Underfolded superior helices,HPO,phenotype,PHENOTYPE_8893
8894,8894,8894,8894,8894,8894,8894,8894,31727,Excyclotropia,HPO,phenotype,PHENOTYPE_8894
8895,8895,8895,8895,8895,8895,8895,8895,410246,Increased circulating IgD concentration,HPO,phenotype,PHENOTYPE_8895
8896,8896,8896,8896,8896,8896,8896,8896,10343,Aplasia/Hypoplasia of the 5th toe,HPO,phenotype,PHENOTYPE_8896
8897,8897,8897,8897,8897,8897,8897,8897,1406,Intrahepatic cholestasis,HPO,phenotype,PHENOTYPE_8897
8898,8898,8898,8898,8898,8898,8898,8898,31369,Colon perforation,HPO,phenotype,PHENOTYPE_8898
8899,8899,8899,8899,8899,8899,8899,8899,100161,Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_8899
8900,8900,8900,8900,8900,8900,8900,8900,410312,Hypersegmentation of neutrophil nuclei in CSF,HPO,phenotype,PHENOTYPE_8900
8901,8901,8901,8901,8901,8901,8901,8901,4927,Pulmonary artery dilatation,HPO,phenotype,PHENOTYPE_8901
8902,8902,8902,8902,8902,8902,8902,8902,6655,Rib segmentation abnormalities,HPO,phenotype,PHENOTYPE_8902
8903,8903,8903,8903,8903,8903,8903,8903,5574,Non-acidotic proximal tubulopathy,HPO,phenotype,PHENOTYPE_8903
8904,8904,8904,8904,8904,8904,8904,8904,10339,Flexion contracture of the 4th toe,HPO,phenotype,PHENOTYPE_8904
8905,8905,8905,8905,8905,8905,8905,8905,3563,Decreased LDL cholesterol concentration,HPO,phenotype,PHENOTYPE_8905
8906,8906,8906,8906,8906,8906,8906,8906,410239,Positive urine norcotinine test,HPO,phenotype,PHENOTYPE_8906
8907,8907,8907,8907,8907,8907,8907,8907,12173,Orthostatic tachycardia,HPO,phenotype,PHENOTYPE_8907
8908,8908,8908,8908,8908,8908,8908,8908,12851,Colonic stenosis,HPO,phenotype,PHENOTYPE_8908
8909,8909,8909,8909,8909,8909,8909,8909,100048,Fragmentation of the epiphyses of the 2nd toe,HPO,phenotype,PHENOTYPE_8909
8910,8910,8910,8910,8910,8910,8910,8910,32566,Oval macrocytosis,HPO,phenotype,PHENOTYPE_8910
8911,8911,8911,8911,8911,8911,8911,8911,77,Abnormality of the kidney,HPO,phenotype,PHENOTYPE_8911
8912,8912,8912,8912,8912,8912,8912,8912,11273,Anisocytosis,HPO,phenotype,PHENOTYPE_8912
8913,8913,8913,8913,8913,8913,8913,8913,6000511,Reduced erythrocyte inosine triphosphatase activity,HPO,phenotype,PHENOTYPE_8913
8914,8914,8914,8914,8914,8914,8914,8914,32760,Focal sensory seizure with hot-cold sensations,HPO,phenotype,PHENOTYPE_8914
8915,8915,8915,8915,8915,8915,8915,8915,4601,Spina bifida occulta at L5,HPO,phenotype,PHENOTYPE_8915
8916,8916,8916,8916,8916,8916,8916,8916,7641,Dyschromatopsia,HPO,phenotype,PHENOTYPE_8916
8917,8917,8917,8917,8917,8917,8917,8917,200141,"Small, conical teeth",HPO,phenotype,PHENOTYPE_8917
8918,8918,8918,8918,8918,8918,8918,8918,8035,Retinitis pigmentosa inversa,HPO,phenotype,PHENOTYPE_8918
8919,8919,8919,8919,8919,8919,8919,8919,20164,Ophthalmic artery occlusion,HPO,phenotype,PHENOTYPE_8919
8920,8920,8920,8920,8920,8920,8920,8920,12543,Hemosiderinuria,HPO,phenotype,PHENOTYPE_8920
8921,8921,8921,8921,8921,8921,8921,8921,2011,Morphological central nervous system abnormality,HPO,phenotype,PHENOTYPE_8921
8922,8922,8922,8922,8922,8922,8922,8922,100842,Septo-optic dysplasia,HPO,phenotype,PHENOTYPE_8922
8923,8923,8923,8923,8923,8923,8923,8923,12607,Abnormal urine magnesium concentration,HPO,phenotype,PHENOTYPE_8923
8924,8924,8924,8924,8924,8924,8924,8924,11657,Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis,HPO,phenotype,PHENOTYPE_8924
8925,8925,8925,8925,8925,8925,8925,8925,30676,Satyr ear,HPO,phenotype,PHENOTYPE_8925
8926,8926,8926,8926,8926,8926,8926,8926,12065,Multiple bony cystic lesions,HPO,phenotype,PHENOTYPE_8926
8927,8927,8927,8927,8927,8927,8927,8927,5201011,Complete bilateral cleft lip,HPO,phenotype,PHENOTYPE_8927
8928,8928,8928,8928,8928,8928,8928,8928,2503,Spinocerebellar tract degeneration,HPO,phenotype,PHENOTYPE_8928
8929,8929,8929,8929,8929,8929,8929,8929,25782,Abnormal syntax,HPO,phenotype,PHENOTYPE_8929
8930,8930,8930,8930,8930,8930,8930,8930,33616,Accessory cardiac bronchus,HPO,phenotype,PHENOTYPE_8930
8931,8931,8931,8931,8931,8931,8931,8931,25785,Abnormal preoccupation,HPO,phenotype,PHENOTYPE_8931
8932,8932,8932,8932,8932,8932,8932,8932,10247,Bracket epiphyses of the distal phalanges of the hand,HPO,phenotype,PHENOTYPE_8932
8933,8933,8933,8933,8933,8933,8933,8933,6000648,3-4 toe cutaneous syndactyly,HPO,phenotype,PHENOTYPE_8933
8934,8934,8934,8934,8934,8934,8934,8934,2220,Melanin pigment aggregation in hair shafts,HPO,phenotype,PHENOTYPE_8934
8935,8935,8935,8935,8935,8935,8935,8935,649,Abnormality of visual evoked potentials,HPO,phenotype,PHENOTYPE_8935
8936,8936,8936,8936,8936,8936,8936,8936,6000972,Abnormal tissue alpha-N-acetylglucosaminidase activity,HPO,phenotype,PHENOTYPE_8936
8937,8937,8937,8937,8937,8937,8937,8937,81,Duplicated collecting system,HPO,phenotype,PHENOTYPE_8937
8938,8938,8938,8938,8938,8938,8938,8938,30873,Anti-centromere antibody positivity,HPO,phenotype,PHENOTYPE_8938
8939,8939,8939,8939,8939,8939,8939,8939,45090,Minor finding,HPO,phenotype,PHENOTYPE_8939
8940,8940,8940,8940,8940,8940,8940,8940,2869,Flared iliac wing,HPO,phenotype,PHENOTYPE_8940
8941,8941,8941,8941,8941,8941,8941,8941,32401,Aspartic aciduria,HPO,phenotype,PHENOTYPE_8941
8942,8942,8942,8942,8942,8942,8942,8942,9996,Partial duplication of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_8942
8943,8943,8943,8943,8943,8943,8943,8943,9357,Abnormality of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_8943
8944,8944,8944,8944,8944,8944,8944,8944,10402,Triangular shaped proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_8944
8945,8945,8945,8945,8945,8945,8945,8945,2307,Drooling,HPO,phenotype,PHENOTYPE_8945
8946,8946,8946,8946,8946,8946,8946,8946,1950,Respiratory alkalosis,HPO,phenotype,PHENOTYPE_8946
8947,8947,8947,8947,8947,8947,8947,8947,8598,Mild conductive hearing impairment,HPO,phenotype,PHENOTYPE_8947
8948,8948,8948,8948,8948,8948,8948,8948,40297,Preauricular cyst,HPO,phenotype,PHENOTYPE_8948
8949,8949,8949,8949,8949,8949,8949,8949,11287,EEG with occipital sharp slow waves,HPO,phenotype,PHENOTYPE_8949
8950,8950,8950,8950,8950,8950,8950,8950,4000060,Abnormal pulmonary alveolar system development,HPO,phenotype,PHENOTYPE_8950
8951,8951,8951,8951,8951,8951,8951,8951,8640,Congenital macroorchidism,HPO,phenotype,PHENOTYPE_8951
8952,8952,8952,8952,8952,8952,8952,8952,4524,Temporal hypotrichosis,HPO,phenotype,PHENOTYPE_8952
8953,8953,8953,8953,8953,8953,8953,8953,34722,Sarcoplasmic bodies,HPO,phenotype,PHENOTYPE_8953
8954,8954,8954,8954,8954,8954,8954,8954,10752,Cleft mandible,HPO,phenotype,PHENOTYPE_8954
8955,8955,8955,8955,8955,8955,8955,8955,25794,Reduced MHC I cell surface expression,HPO,phenotype,PHENOTYPE_8955
8956,8956,8956,8956,8956,8956,8956,8956,12512,Diffuse optic disc pallor,HPO,phenotype,PHENOTYPE_8956
8957,8957,8957,8957,8957,8957,8957,8957,4800,Duodenal diverticula,HPO,phenotype,PHENOTYPE_8957
8958,8958,8958,8958,8958,8958,8958,8958,32962,Tubular microcystic change,HPO,phenotype,PHENOTYPE_8958
8959,8959,8959,8959,8959,8959,8959,8959,6000163,Shoulder localization,HPO,phenotype,PHENOTYPE_8959
8960,8960,8960,8960,8960,8960,8960,8960,11549,Univentricular heart with absent left sided atrioventricular connection,HPO,phenotype,PHENOTYPE_8960
8961,8961,8961,8961,8961,8961,8961,8961,8436,Absent/hypoplastic coccyx,HPO,phenotype,PHENOTYPE_8961
8962,8962,8962,8962,8962,8962,8962,8962,100053,Stippling of the epiphyses of the 2nd toe,HPO,phenotype,PHENOTYPE_8962
8963,8963,8963,8963,8963,8963,8963,8963,9839,Osteolytic defects of the distal phalanges of the hand,HPO,phenotype,PHENOTYPE_8963
8964,8964,8964,8964,8964,8964,8964,8964,31361,Zebra bodies,HPO,phenotype,PHENOTYPE_8964
8965,8965,8965,8965,8965,8965,8965,8965,11479,Abnormal lacrimal punctum morphology,HPO,phenotype,PHENOTYPE_8965
8966,8966,8966,8966,8966,8966,8966,8966,889,Abnormal clavicle morphology,HPO,phenotype,PHENOTYPE_8966
8967,8967,8967,8967,8967,8967,8967,8967,32497,Reduced terminal:vellus ratio,HPO,phenotype,PHENOTYPE_8967
8968,8968,8968,8968,8968,8968,8968,8968,6000170,Pain alleviated by testicle elevation,HPO,phenotype,PHENOTYPE_8968
8969,8969,8969,8969,8969,8969,8969,8969,11430,Hypoplasia of fetal nasal bone,HPO,phenotype,PHENOTYPE_8969
8970,8970,8970,8970,8970,8970,8970,8970,31565,Abdominal situs ambiguus,HPO,phenotype,PHENOTYPE_8970
8971,8971,8971,8971,8971,8971,8971,8971,10415,Bullet-shaped distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_8971
8972,8972,8972,8972,8972,8972,8972,8972,1600,Abnormality of the larynx,HPO,phenotype,PHENOTYPE_8972
8973,8973,8973,8973,8973,8973,8973,8973,31625,Pseudoaneurysm,HPO,phenotype,PHENOTYPE_8973
8974,8974,8974,8974,8974,8974,8974,8974,4499,Chronic rhinitis due to narrow nasal airway,HPO,phenotype,PHENOTYPE_8974
8975,8975,8975,8975,8975,8975,8975,8975,10313,Breast hypertrophy,HPO,phenotype,PHENOTYPE_8975
8976,8976,8976,8976,8976,8976,8976,8976,30071,Medulloepithelioma,HPO,phenotype,PHENOTYPE_8976
8977,8977,8977,8977,8977,8977,8977,8977,6001112,Elevated tissue arylsulfatase A activity,HPO,phenotype,PHENOTYPE_8977
8978,8978,8978,8978,8978,8978,8978,8978,33472,10-minute APGAR score of 4,HPO,phenotype,PHENOTYPE_8978
8979,8979,8979,8979,8979,8979,8979,8979,100909,Sclerosis of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_8979
8980,8980,8980,8980,8980,8980,8980,8980,2538,Abnormal cerebral cortex morphology,HPO,phenotype,PHENOTYPE_8980
8981,8981,8981,8981,8981,8981,8981,8981,12442,Gallbladder dyskinesia,HPO,phenotype,PHENOTYPE_8981
8982,8982,8982,8982,8982,8982,8982,8982,430138,Positive CSF varicella zoster virus nucleic acid test,HPO,phenotype,PHENOTYPE_8982
8983,8983,8983,8983,8983,8983,8983,8983,592,Blue sclerae,HPO,phenotype,PHENOTYPE_8983
8984,8984,8984,8984,8984,8984,8984,8984,12774,Increased upper to lower segment ratio,HPO,phenotype,PHENOTYPE_8984
8985,8985,8985,8985,8985,8985,8985,8985,6582,Reye syndrome-like episodes,HPO,phenotype,PHENOTYPE_8985
8986,8986,8986,8986,8986,8986,8986,8986,5954,Pulmonary capillary hemangiomatosis,HPO,phenotype,PHENOTYPE_8986
8987,8987,8987,8987,8987,8987,8987,8987,100693,Iridodonesis,HPO,phenotype,PHENOTYPE_8987
8988,8988,8988,8988,8988,8988,8988,8988,7027,Poorly formed metencephalon,HPO,phenotype,PHENOTYPE_8988
8989,8989,8989,8989,8989,8989,8989,8989,3999,Abnormality of radial epiphyses,HPO,phenotype,PHENOTYPE_8989
8990,8990,8990,8990,8990,8990,8990,8990,31061,Impaired toileting ability,HPO,phenotype,PHENOTYPE_8990
8991,8991,8991,8991,8991,8991,8991,8991,9931,Enlarged naris,HPO,phenotype,PHENOTYPE_8991
8992,8992,8992,8992,8992,8992,8992,8992,5535,Exercise-induced hemolysis,HPO,phenotype,PHENOTYPE_8992
8993,8993,8993,8993,8993,8993,8993,8993,100352,Contracture of the distal interphalangeal joint of the 2nd toe,HPO,phenotype,PHENOTYPE_8993
8994,8994,8994,8994,8994,8994,8994,8994,12193,Anaplastic large-cell lymphoma,HPO,phenotype,PHENOTYPE_8994
8995,8995,8995,8995,8995,8995,8995,8995,100242,Sarcoma,HPO,phenotype,PHENOTYPE_8995
8996,8996,8996,8996,8996,8996,8996,8996,6000586,Muscle arteriovenous malformation,HPO,phenotype,PHENOTYPE_8996
8997,8997,8997,8997,8997,8997,8997,8997,5807,Absent distal phalanges,HPO,phenotype,PHENOTYPE_8997
8998,8998,8998,8998,8998,8998,8998,8998,5473,Fusion of middle ear ossicles,HPO,phenotype,PHENOTYPE_8998
8999,8999,8999,8999,8999,8999,8999,8999,417,Slender nose,HPO,phenotype,PHENOTYPE_8999
9000,9000,9000,9000,9000,9000,9000,9000,11770,Tertiary hyperparathyroidism,HPO,phenotype,PHENOTYPE_9000
9001,9001,9001,9001,9001,9001,9001,9001,20272,Increased lymph-node plasma cells,HPO,phenotype,PHENOTYPE_9001
9002,9002,9002,9002,9002,9002,9002,9002,12749,Focal T2 hypointense brainstem lesion,HPO,phenotype,PHENOTYPE_9002
9003,9003,9003,9003,9003,9003,9003,9003,1283,Bulbar palsy,HPO,phenotype,PHENOTYPE_9003
9004,9004,9004,9004,9004,9004,9004,9004,30844,Undetectable pattern electroretinogram,HPO,phenotype,PHENOTYPE_9004
9005,9005,9005,9005,9005,9005,9005,9005,34968,Urinary bladder mass,HPO,phenotype,PHENOTYPE_9005
9006,9006,9006,9006,9006,9006,9006,9006,41224,Fractured manual digit bone,HPO,phenotype,PHENOTYPE_9006
9007,9007,9007,9007,9007,9007,9007,9007,32274,Increased CSF N-acetylaspartic acid concentration,HPO,phenotype,PHENOTYPE_9007
9008,9008,9008,9008,9008,9008,9008,9008,100164,Pseudoepiphysis of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_9008
9009,9009,9009,9009,9009,9009,9009,9009,34350,Valvular pulmonary stenosis,HPO,phenotype,PHENOTYPE_9009
9010,9010,9010,9010,9010,9010,9010,9010,5194,Flattened metatarsal heads,HPO,phenotype,PHENOTYPE_9010
9011,9011,9011,9011,9011,9011,9011,9011,32865,Myoclonic absence status epilepticus,HPO,phenotype,PHENOTYPE_9011
9012,9012,9012,9012,9012,9012,9012,9012,30269,Increased circulating insulin-like growth factor 1 concentration,HPO,phenotype,PHENOTYPE_9012
9013,9013,9013,9013,9013,9013,9013,9013,8529,Absence of acoustic reflex,HPO,phenotype,PHENOTYPE_9013
9014,9014,9014,9014,9014,9014,9014,9014,634,Impaired ocular abduction,HPO,phenotype,PHENOTYPE_9014
9015,9015,9015,9015,9015,9015,9015,9015,32748,Focal impaired awareness emotional seizure with anger,HPO,phenotype,PHENOTYPE_9015
9016,9016,9016,9016,9016,9016,9016,9016,3710,Exercise-induced muscle cramps,HPO,phenotype,PHENOTYPE_9016
9017,9017,9017,9017,9017,9017,9017,9017,9993,Complete duplication of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_9017
9018,9018,9018,9018,9018,9018,9018,9018,7809,Punctate corneal dystrophy,HPO,phenotype,PHENOTYPE_9018
9019,9019,9019,9019,9019,9019,9019,9019,6000743,Pediculosis capitis,HPO,phenotype,PHENOTYPE_9019
9020,9020,9020,9020,9020,9020,9020,9020,8400,Onycholysis of distal fingernails,HPO,phenotype,PHENOTYPE_9020
9021,9021,9021,9021,9021,9021,9021,9021,11087,Talon cusp,HPO,phenotype,PHENOTYPE_9021
9022,9022,9022,9022,9022,9022,9022,9022,40216,Hypoinsulinemia,HPO,phenotype,PHENOTYPE_9022
9023,9023,9023,9023,9023,9023,9023,9023,33345,Neuralgia,HPO,phenotype,PHENOTYPE_9023
9024,9024,9024,9024,9024,9024,9024,9024,6001168,Abnormal optic disc vasculature morphology,HPO,phenotype,PHENOTYPE_9024
9025,9025,9025,9025,9025,9025,9025,9025,2104,Apnea,HPO,phenotype,PHENOTYPE_9025
9026,9026,9026,9026,9026,9026,9026,9026,3449,Cold-induced muscle cramps,HPO,phenotype,PHENOTYPE_9026
9027,9027,9027,9027,9027,9027,9027,9027,315,Abnormality of the orbital region,HPO,phenotype,PHENOTYPE_9027
9028,9028,9028,9028,9028,9028,9028,9028,202,Orofacial cleft,HPO,phenotype,PHENOTYPE_9028
9029,9029,9029,9029,9029,9029,9029,9029,10607,Hordeolum externum,HPO,phenotype,PHENOTYPE_9029
9030,9030,9030,9030,9030,9030,9030,9030,40426,Decreased urinary hypoxanthine level,HPO,phenotype,PHENOTYPE_9030
9031,9031,9031,9031,9031,9031,9031,9031,33948,Arcuate artery intima/media arteriitis,HPO,phenotype,PHENOTYPE_9031
9032,9032,9032,9032,9032,9032,9032,9032,3145,Decreased circulating adenosylcobalamin concentration,HPO,phenotype,PHENOTYPE_9032
9033,9033,9033,9033,9033,9033,9033,9033,30780,Abnormality of the protein C anticoagulant pathway,HPO,phenotype,PHENOTYPE_9033
9034,9034,9034,9034,9034,9034,9034,9034,9433,Osteolytic defects of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_9034
9035,9035,9035,9035,9035,9035,9035,9035,1618,Dysphonia,HPO,phenotype,PHENOTYPE_9035
9036,9036,9036,9036,9036,9036,9036,9036,7018,Attention deficit hyperactivity disorder,HPO,phenotype,PHENOTYPE_9036
9037,9037,9037,9037,9037,9037,9037,9037,31298,Coronary sinus enlargement,HPO,phenotype,PHENOTYPE_9037
9038,9038,9038,9038,9038,9038,9038,9038,9775,Amniotic constriction ring,HPO,phenotype,PHENOTYPE_9038
9039,9039,9039,9039,9039,9039,9039,9039,41190,Fractured epiphysis of second metacarpal bone,HPO,phenotype,PHENOTYPE_9039
9040,9040,9040,9040,9040,9040,9040,9040,100582,Nasal polyposis,HPO,phenotype,PHENOTYPE_9040
9041,9041,9041,9041,9041,9041,9041,9041,8279,Transient hyperlipidemia,HPO,phenotype,PHENOTYPE_9041
9042,9042,9042,9042,9042,9042,9042,9042,12240,Increased intramyocellular lipid droplets,HPO,phenotype,PHENOTYPE_9042
9043,9043,9043,9043,9043,9043,9043,9043,6000082,Reduced hepatic beta-ureidopropionase activity,HPO,phenotype,PHENOTYPE_9043
9044,9044,9044,9044,9044,9044,9044,9044,12426,Optic disc drusen,HPO,phenotype,PHENOTYPE_9044
9045,9045,9045,9045,9045,9045,9045,9045,4000186,Elevated erythrocyte adenosine triphosphate concentration,HPO,phenotype,PHENOTYPE_9045
9046,9046,9046,9046,9046,9046,9046,9046,33334,Abnormal embryonic development,HPO,phenotype,PHENOTYPE_9046
9047,9047,9047,9047,9047,9047,9047,9047,34024,Anti-HLA-B IgG3 antibody positivity,HPO,phenotype,PHENOTYPE_9047
9048,9048,9048,9048,9048,9048,9048,9048,6979,Sleep-wake cycle disturbance,HPO,phenotype,PHENOTYPE_9048
9049,9049,9049,9049,9049,9049,9049,9049,6988,Alobar holoprosencephaly,HPO,phenotype,PHENOTYPE_9049
9050,9050,9050,9050,9050,9050,9050,9050,25225,Triggered by sound,HPO,phenotype,PHENOTYPE_9050
9051,9051,9051,9051,9051,9051,9051,9051,2515,Waddling gait,HPO,phenotype,PHENOTYPE_9051
9052,9052,9052,9052,9052,9052,9052,9052,11390,Abnormal inner ear morphology,HPO,phenotype,PHENOTYPE_9052
9053,9053,9053,9053,9053,9053,9053,9053,6001175,Pain at the medial aspect of the elbow,HPO,phenotype,PHENOTYPE_9053
9054,9054,9054,9054,9054,9054,9054,9054,2199,Hypocalcemic seizures,HPO,phenotype,PHENOTYPE_9054
9055,9055,9055,9055,9055,9055,9055,9055,9558,Broad distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_9055
9056,9056,9056,9056,9056,9056,9056,9056,30537,Unaided visual acuity 0.2 LogMAR,HPO,phenotype,PHENOTYPE_9056
9057,9057,9057,9057,9057,9057,9057,9057,33040,Anti-Sm antibody positivity,HPO,phenotype,PHENOTYPE_9057
9058,9058,9058,9058,9058,9058,9058,9058,6000111,Monoarticular,HPO,phenotype,PHENOTYPE_9058
9059,9059,9059,9059,9059,9059,9059,9059,8038,Aplastic/hypoplastic lacrimal glands,HPO,phenotype,PHENOTYPE_9059
9060,9060,9060,9060,9060,9060,9060,9060,25087,Delayed recoil upon stretching of skin,HPO,phenotype,PHENOTYPE_9060
9061,9061,9061,9061,9061,9061,9061,9061,12511,Temporal optic disc pallor,HPO,phenotype,PHENOTYPE_9061
9062,9062,9062,9062,9062,9062,9062,9062,33278,Reduced CD95-induced lymphocyte apoptosis,HPO,phenotype,PHENOTYPE_9062
9063,9063,9063,9063,9063,9063,9063,9063,3982,Aplasia of the ulna,HPO,phenotype,PHENOTYPE_9063
9064,9064,9064,9064,9064,9064,9064,9064,33493,Mesangial matrix expansion,HPO,phenotype,PHENOTYPE_9064
9065,9065,9065,9065,9065,9065,9065,9065,20173,Reduced drug efficacy,HPO,phenotype,PHENOTYPE_9065
9066,9066,9066,9066,9066,9066,9066,9066,34930,Digestive system neoplasm,HPO,phenotype,PHENOTYPE_9066
9067,9067,9067,9067,9067,9067,9067,9067,2448,Progressive encephalopathy,HPO,phenotype,PHENOTYPE_9067
9068,9068,9068,9068,9068,9068,9068,9068,32247,Persistent CMV viremia,HPO,phenotype,PHENOTYPE_9068
9069,9069,9069,9069,9069,9069,9069,9069,9982,Partial duplication of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_9069
9070,9070,9070,9070,9070,9070,9070,9070,7677,Vitelliform-like macular lesions,HPO,phenotype,PHENOTYPE_9070
9071,9071,9071,9071,9071,9071,9071,9071,34181,Aplasia/Hypoplasia of the liver,HPO,phenotype,PHENOTYPE_9071
9072,9072,9072,9072,9072,9072,9072,9072,11195,EEG with focal sharp slow waves,HPO,phenotype,PHENOTYPE_9072
9073,9073,9073,9073,9073,9073,9073,9073,7685,Peripheral retinal avascularization,HPO,phenotype,PHENOTYPE_9073
9074,9074,9074,9074,9074,9074,9074,9074,30586,Abnormal Ishihara plate test,HPO,phenotype,PHENOTYPE_9074
9075,9075,9075,9075,9075,9075,9075,9075,6001140,Capitellum fracture,HPO,phenotype,PHENOTYPE_9075
9076,9076,9076,9076,9076,9076,9076,9076,33255,Congenital lobar overinflation,HPO,phenotype,PHENOTYPE_9076
9077,9077,9077,9077,9077,9077,9077,9077,9347,Bracket epiphysis of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_9077
9078,9078,9078,9078,9078,9078,9078,9078,31462,Musculotendinous retraction,HPO,phenotype,PHENOTYPE_9078
9079,9079,9079,9079,9079,9079,9079,9079,410220,Increased anti-dairy protein IgE antibody level,HPO,phenotype,PHENOTYPE_9079
9080,9080,9080,9080,9080,9080,9080,9080,33164,Focal active colitis,HPO,phenotype,PHENOTYPE_9080
9081,9081,9081,9081,9081,9081,9081,9081,6000165,Maternal folate deficiency,HPO,phenotype,PHENOTYPE_9081
9082,9082,9082,9082,9082,9082,9082,9082,5201010,Microform cleft of the upper lip,HPO,phenotype,PHENOTYPE_9082
9083,9083,9083,9083,9083,9083,9083,9083,31154,Beaded vitreous appearance,HPO,phenotype,PHENOTYPE_9083
9084,9084,9084,9084,9084,9084,9084,9084,31583,Tessier number 11 facial cleft,HPO,phenotype,PHENOTYPE_9084
9085,9085,9085,9085,9085,9085,9085,9085,540,Hypermetropia,HPO,phenotype,PHENOTYPE_9085
9086,9086,9086,9086,9086,9086,9086,9086,100174,Irregular epiphysis of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_9086
9087,9087,9087,9087,9087,9087,9087,9087,7166,Paroxysmal dyskinesia,HPO,phenotype,PHENOTYPE_9087
9088,9088,9088,9088,9088,9088,9088,9088,12379,Abnormal circulating enzyme concentration or activity,HPO,phenotype,PHENOTYPE_9088
9089,9089,9089,9089,9089,9089,9089,9089,100684,Salivary gland neoplasm,HPO,phenotype,PHENOTYPE_9089
9090,9090,9090,9090,9090,9090,9090,9090,6000208,Elevated CSF 5-hydroxymethyluracil concentration,HPO,phenotype,PHENOTYPE_9090
9091,9091,9091,9091,9091,9091,9091,9091,6500,Abnormal lower limb epiphysis morphology,HPO,phenotype,PHENOTYPE_9091
9092,9092,9092,9092,9092,9092,9092,9092,3218,Oroticaciduria,HPO,phenotype,PHENOTYPE_9092
9093,9093,9093,9093,9093,9093,9093,9093,500117,Abnormal CSF urate concentration,HPO,phenotype,PHENOTYPE_9093
9094,9094,9094,9094,9094,9094,9094,9094,1873,Thrombocytopenia,HPO,phenotype,PHENOTYPE_9094
9095,9095,9095,9095,9095,9095,9095,9095,3081,Increased urinary potassium,HPO,phenotype,PHENOTYPE_9095
9096,9096,9096,9096,9096,9096,9096,9096,11719,Supracardiac total anomalous pulmonary venous connection,HPO,phenotype,PHENOTYPE_9096
9097,9097,9097,9097,9097,9097,9097,9097,9512,Triangular epiphysis of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_9097
9098,9098,9098,9098,9098,9098,9098,9098,3843,Round epiphyses of the upper limbs,HPO,phenotype,PHENOTYPE_9098
9099,9099,9099,9099,9099,9099,9099,9099,3912,Frayed humeral metaphyses,HPO,phenotype,PHENOTYPE_9099
9100,9100,9100,9100,9100,9100,9100,9100,5045,Diaphyseal cortical sclerosis,HPO,phenotype,PHENOTYPE_9100
9101,9101,9101,9101,9101,9101,9101,9101,5021,Bilateral elbow dislocations,HPO,phenotype,PHENOTYPE_9101
9102,9102,9102,9102,9102,9102,9102,9102,33967,Interlobular vein intima/media venulitis,HPO,phenotype,PHENOTYPE_9102
9103,9103,9103,9103,9103,9103,9103,9103,31211,Elevated cholesterol ester level,HPO,phenotype,PHENOTYPE_9103
9104,9104,9104,9104,9104,9104,9104,9104,2354,Memory impairment,HPO,phenotype,PHENOTYPE_9104
9105,9105,9105,9105,9105,9105,9105,9105,4566,Pear-shaped vertebrae,HPO,phenotype,PHENOTYPE_9105
9106,9106,9106,9106,9106,9106,9106,9106,9386,Fragmentation of the epiphyses of the 5th finger,HPO,phenotype,PHENOTYPE_9106
9107,9107,9107,9107,9107,9107,9107,9107,34394,Forearm supination contracture,HPO,phenotype,PHENOTYPE_9107
9108,9108,9108,9108,9108,9108,9108,9108,6000839,Horizontal position of testicle,HPO,phenotype,PHENOTYPE_9108
9109,9109,9109,9109,9109,9109,9109,9109,6000914,Single lesion,HPO,phenotype,PHENOTYPE_9109
9110,9110,9110,9110,9110,9110,9110,9110,12857,Increased scrotal rugation,HPO,phenotype,PHENOTYPE_9110
9111,9111,9111,9111,9111,9111,9111,9111,31689,Megakaryocyte dysplasia,HPO,phenotype,PHENOTYPE_9111
9112,9112,9112,9112,9112,9112,9112,9112,6000818,Transverse terminal limb defect,HPO,phenotype,PHENOTYPE_9112
9113,9113,9113,9113,9113,9113,9113,9113,4000040,Puerpural onset,HPO,phenotype,PHENOTYPE_9113
9114,9114,9114,9114,9114,9114,9114,9114,100485,Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal,HPO,phenotype,PHENOTYPE_9114
9115,9115,9115,9115,9115,9115,9115,9115,33700,Papulovesicular eruption,HPO,phenotype,PHENOTYPE_9115
9116,9116,9116,9116,9116,9116,9116,9116,32903,Focal vocal automatism seizure,HPO,phenotype,PHENOTYPE_9116
9117,9117,9117,9117,9117,9117,9117,9117,3502,Mild short stature,HPO,phenotype,PHENOTYPE_9117
9118,9118,9118,9118,9118,9118,9118,9118,5200119,Difficulty understanding humor,HPO,phenotype,PHENOTYPE_9118
9119,9119,9119,9119,9119,9119,9119,9119,32453,Abnormal lip pigmentation,HPO,phenotype,PHENOTYPE_9119
9120,9120,9120,9120,9120,9120,9120,9120,33902,Arcuate artery endotheliosis,HPO,phenotype,PHENOTYPE_9120
9121,9121,9121,9121,9121,9121,9121,9121,45037,Abnormality of jaw muscles,HPO,phenotype,PHENOTYPE_9121
9122,9122,9122,9122,9122,9122,9122,9122,6589,Flaring of lower rib cage,HPO,phenotype,PHENOTYPE_9122
9123,9123,9123,9123,9123,9123,9123,9123,33388,Abnormal bronchial artery morphology,HPO,phenotype,PHENOTYPE_9123
9124,9124,9124,9124,9124,9124,9124,9124,31286,Perifollicular erythema,HPO,phenotype,PHENOTYPE_9124
9125,9125,9125,9125,9125,9125,9125,9125,11948,Recurrent acute respiratory tract infection,HPO,phenotype,PHENOTYPE_9125
9126,9126,9126,9126,9126,9126,9126,9126,430075,Mammary blocked duct,HPO,phenotype,PHENOTYPE_9126
9127,9127,9127,9127,9127,9127,9127,9127,34634,Dopamine antagonist exposure,HPO,phenotype,PHENOTYPE_9127
9128,9128,9128,9128,9128,9128,9128,9128,7841,Amyloid deposition in the vitreous humor,HPO,phenotype,PHENOTYPE_9128
9129,9129,9129,9129,9129,9129,9129,9129,10148,Triangular epiphysis of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_9129
9130,9130,9130,9130,9130,9130,9130,9130,4637,Decreased cervical spine mobility,HPO,phenotype,PHENOTYPE_9130
9131,9131,9131,9131,9131,9131,9131,9131,9254,Fragmentation of the epiphysis of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_9131
9132,9132,9132,9132,9132,9132,9132,9132,9532,Small epiphysis of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_9132
9133,9133,9133,9133,9133,9133,9133,9133,11577,Partial atrioventricular canal defect,HPO,phenotype,PHENOTYPE_9133
9134,9134,9134,9134,9134,9134,9134,9134,410248,Increased anti-house dust mite IgE antibody level,HPO,phenotype,PHENOTYPE_9134
9135,9135,9135,9135,9135,9135,9135,9135,410154,Increased level of myristic acid in serum,HPO,phenotype,PHENOTYPE_9135
9136,9136,9136,9136,9136,9136,9136,9136,9377,Patchy sclerosis of 5th finger phalanx,HPO,phenotype,PHENOTYPE_9136
9137,9137,9137,9137,9137,9137,9137,9137,100063,Small epiphyses of the 3rd toe,HPO,phenotype,PHENOTYPE_9137
9138,9138,9138,9138,9138,9138,9138,9138,6688,Paroxysmal tachycardia,HPO,phenotype,PHENOTYPE_9138
9139,9139,9139,9139,9139,9139,9139,9139,1730,Progressive hearing impairment,HPO,phenotype,PHENOTYPE_9139
9140,9140,9140,9140,9140,9140,9140,9140,4751,Paroxysmal ventricular tachycardia,HPO,phenotype,PHENOTYPE_9140
9141,9141,9141,9141,9141,9141,9141,9141,11333,Asymmetric crying face,HPO,phenotype,PHENOTYPE_9141
9142,9142,9142,9142,9142,9142,9142,9142,34656,Elevated urine 3-hydroxyglutaric level,HPO,phenotype,PHENOTYPE_9142
9143,9143,9143,9143,9143,9143,9143,9143,10617,Cardiac fibroma,HPO,phenotype,PHENOTYPE_9143
9144,9144,9144,9144,9144,9144,9144,9144,4825,Increased hemoglobin oxygen affinity,HPO,phenotype,PHENOTYPE_9144
9145,9145,9145,9145,9145,9145,9145,9145,30850,Abnormal pulse pressure,HPO,phenotype,PHENOTYPE_9145
9146,9146,9146,9146,9146,9146,9146,9146,34336,Splenic infarction,HPO,phenotype,PHENOTYPE_9146
9147,9147,9147,9147,9147,9147,9147,9147,30924,5-minute APGAR score of 4,HPO,phenotype,PHENOTYPE_9147
9148,9148,9148,9148,9148,9148,9148,9148,6001041,Maternal retinal mottling,HPO,phenotype,PHENOTYPE_9148
9149,9149,9149,9149,9149,9149,9149,9149,11718,Abnormality of the pulmonary veins,HPO,phenotype,PHENOTYPE_9149
9150,9150,9150,9150,9150,9150,9150,9150,4422,Biparietal narrowing,HPO,phenotype,PHENOTYPE_9150
9151,9151,9151,9151,9151,9151,9151,9151,20035,Lower limb dysmetria,HPO,phenotype,PHENOTYPE_9151
9152,9152,9152,9152,9152,9152,9152,9152,34735,Elevated CSF aspartylglucosamine concentration,HPO,phenotype,PHENOTYPE_9152
9153,9153,9153,9153,9153,9153,9153,9153,6001116,History of high-pressure injection injury of the hand,HPO,phenotype,PHENOTYPE_9153
9154,9154,9154,9154,9154,9154,9154,9154,11294,EEG with frontal sharp waves,HPO,phenotype,PHENOTYPE_9154
9155,9155,9155,9155,9155,9155,9155,9155,34701,Corneal amyloidosis,HPO,phenotype,PHENOTYPE_9155
9156,9156,9156,9156,9156,9156,9156,9156,31958,Spastic paraparetic gait,HPO,phenotype,PHENOTYPE_9156
9157,9157,9157,9157,9157,9157,9157,9157,11675,Arrhythmia,HPO,phenotype,PHENOTYPE_9157
9158,9158,9158,9158,9158,9158,9158,9158,33971,Interlobular vein intima/media coagulative necrosis,HPO,phenotype,PHENOTYPE_9158
9159,9159,9159,9159,9159,9159,9159,9159,3000014,Abnormality of procerus muscle,HPO,phenotype,PHENOTYPE_9159
9160,9160,9160,9160,9160,9160,9160,9160,33335,Abnormal preimplantation embryonic development,HPO,phenotype,PHENOTYPE_9160
9161,9161,9161,9161,9161,9161,9161,9161,100441,Bullet-shaped distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_9161
9162,9162,9162,9162,9162,9162,9162,9162,7705,Corneal degeneration,HPO,phenotype,PHENOTYPE_9162
9163,9163,9163,9163,9163,9163,9163,9163,1225,Wrist swelling,HPO,phenotype,PHENOTYPE_9163
9164,9164,9164,9164,9164,9164,9164,9164,6000922,Abnormal finger phalanx ossification,HPO,phenotype,PHENOTYPE_9164
9165,9165,9165,9165,9165,9165,9165,9165,25015,Abnormal vascular morphology,HPO,phenotype,PHENOTYPE_9165
9166,9166,9166,9166,9166,9166,9166,9166,12723,Sinoatrial block,HPO,phenotype,PHENOTYPE_9166
9167,9167,9167,9167,9167,9167,9167,9167,6000079,Metachromatic intraneuronal lipid deposits,HPO,phenotype,PHENOTYPE_9167
9168,9168,9168,9168,9168,9168,9168,9168,25730,Foramen ovale aneurysm,HPO,phenotype,PHENOTYPE_9168
9169,9169,9169,9169,9169,9169,9169,9169,8014,Central fundal arteriolar microaneurysms,HPO,phenotype,PHENOTYPE_9169
9170,9170,9170,9170,9170,9170,9170,9170,8386,Aplasia/Hypoplasia of the nails,HPO,phenotype,PHENOTYPE_9170
9171,9171,9171,9171,9171,9171,9171,9171,11544,L-looping of the right ventricle,HPO,phenotype,PHENOTYPE_9171
9172,9172,9172,9172,9172,9172,9172,9172,4000201,Abnormal circulating alpha mannosidase activity,HPO,phenotype,PHENOTYPE_9172
9173,9173,9173,9173,9173,9173,9173,9173,9942,Duplication of thumb phalanx,HPO,phenotype,PHENOTYPE_9173
9174,9174,9174,9174,9174,9174,9174,9174,41211,Fractured proximal phalanx of digit 2,HPO,phenotype,PHENOTYPE_9174
9175,9175,9175,9175,9175,9175,9175,9175,30168,Dilated superficial abdominal veins,HPO,phenotype,PHENOTYPE_9175
9176,9176,9176,9176,9176,9176,9176,9176,9539,Contracture of the metacarpophalangeal joint of the 2nd finger,HPO,phenotype,PHENOTYPE_9176
9177,9177,9177,9177,9177,9177,9177,9177,10567,Y-shaped metatarsals,HPO,phenotype,PHENOTYPE_9177
9178,9178,9178,9178,9178,9178,9178,9178,6000280,Elevated CSF cystathionine concentration,HPO,phenotype,PHENOTYPE_9178
9179,9179,9179,9179,9179,9179,9179,9179,32237,Increased circulating myelocyte count,HPO,phenotype,PHENOTYPE_9179
9180,9180,9180,9180,9180,9180,9180,9180,25770,2-3 finger osseus syndactyly,HPO,phenotype,PHENOTYPE_9180
9181,9181,9181,9181,9181,9181,9181,9181,33443,Elevated circulating propionylcarnitine concentration,HPO,phenotype,PHENOTYPE_9181
9182,9182,9182,9182,9182,9182,9182,9182,10678,Enuresis diurna,HPO,phenotype,PHENOTYPE_9182
9183,9183,9183,9183,9183,9183,9183,9183,10100,Complete duplication of hallux phalanx,HPO,phenotype,PHENOTYPE_9183
9184,9184,9184,9184,9184,9184,9184,9184,12180,Cystic medial necrosis,HPO,phenotype,PHENOTYPE_9184
9185,9185,9185,9185,9185,9185,9185,9185,33558,Anti-histone antibody positivity,HPO,phenotype,PHENOTYPE_9185
9186,9186,9186,9186,9186,9186,9186,9186,8392,Subungual hyperkeratosis,HPO,phenotype,PHENOTYPE_9186
9187,9187,9187,9187,9187,9187,9187,9187,7407,Excessive skin wrinkling on dorsum of hands and fingers,HPO,phenotype,PHENOTYPE_9187
9188,9188,9188,9188,9188,9188,9188,9188,9888,Abnormality of secondary sexual hair,HPO,phenotype,PHENOTYPE_9188
9189,9189,9189,9189,9189,9189,9189,9189,25693,Pituitary macroadenoma,HPO,phenotype,PHENOTYPE_9189
9190,9190,9190,9190,9190,9190,9190,9190,12261,Abnormal respiratory motile cilium physiology,HPO,phenotype,PHENOTYPE_9190
9191,9191,9191,9191,9191,9191,9191,9191,32094,Increased circulating surfactant protein level,HPO,phenotype,PHENOTYPE_9191
9192,9192,9192,9192,9192,9192,9192,9192,34507,Gallbladder mass,HPO,phenotype,PHENOTYPE_9192
9193,9193,9193,9193,9193,9193,9193,9193,30970,Abnormal vena cava physiology,HPO,phenotype,PHENOTYPE_9193
9194,9194,9194,9194,9194,9194,9194,9194,33618,Displaced lobar tracheal bronchus,HPO,phenotype,PHENOTYPE_9194
9195,9195,9195,9195,9195,9195,9195,9195,10432,Absent distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_9195
9196,9196,9196,9196,9196,9196,9196,9196,500190,Decreased CSF leucine concentration,HPO,phenotype,PHENOTYPE_9196
9197,9197,9197,9197,9197,9197,9197,9197,500104,Decreased diastolic blood pressure,HPO,phenotype,PHENOTYPE_9197
9198,9198,9198,9198,9198,9198,9198,9198,2860,Squamous cell carcinoma,HPO,phenotype,PHENOTYPE_9198
9199,9199,9199,9199,9199,9199,9199,9199,4931,Arteriosclerosis of small cerebral arteries,HPO,phenotype,PHENOTYPE_9199
9200,9200,9200,9200,9200,9200,9200,9200,9970,Partial duplication of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_9200
9201,9201,9201,9201,9201,9201,9201,9201,32408,Breast mass,HPO,phenotype,PHENOTYPE_9201
9202,9202,9202,9202,9202,9202,9202,9202,45063,Increased PIVKA-II,HPO,phenotype,PHENOTYPE_9202
9203,9203,9203,9203,9203,9203,9203,9203,32997,Decreased cystatin C level,HPO,phenotype,PHENOTYPE_9203
9204,9204,9204,9204,9204,9204,9204,9204,12432,Chronic fatigue,HPO,phenotype,PHENOTYPE_9204
9205,9205,9205,9205,9205,9205,9205,9205,8568,Vestibular areflexia,HPO,phenotype,PHENOTYPE_9205
9206,9206,9206,9206,9206,9206,9206,9206,40214,Abnormal circulating insulin concentration,HPO,phenotype,PHENOTYPE_9206
9207,9207,9207,9207,9207,9207,9207,9207,34317,Unusual viral infection,HPO,phenotype,PHENOTYPE_9207
9208,9208,9208,9208,9208,9208,9208,9208,10232,Fragmentation of the epiphyses of the phalanges of the hand,HPO,phenotype,PHENOTYPE_9208
9209,9209,9209,9209,9209,9209,9209,9209,32536,Increased number of lymph nodes,HPO,phenotype,PHENOTYPE_9209
9210,9210,9210,9210,9210,9210,9210,9210,32355,Decreased peak expiratory flow,HPO,phenotype,PHENOTYPE_9210
9211,9211,9211,9211,9211,9211,9211,9211,34796,Cardiomyocyte hyaline bodies,HPO,phenotype,PHENOTYPE_9211
9212,9212,9212,9212,9212,9212,9212,9212,34548,Portal vein hypoplasia,HPO,phenotype,PHENOTYPE_9212
9213,9213,9213,9213,9213,9213,9213,9213,941,Short diaphyses,HPO,phenotype,PHENOTYPE_9213
9214,9214,9214,9214,9214,9214,9214,9214,3000006,Abnormality of medial pterygoid muscle,HPO,phenotype,PHENOTYPE_9214
9215,9215,9215,9215,9215,9215,9215,9215,6000339,Small fetal abdominal circumference,HPO,phenotype,PHENOTYPE_9215
9216,9216,9216,9216,9216,9216,9216,9216,7500,Decreased number of sweat glands,HPO,phenotype,PHENOTYPE_9216
9217,9217,9217,9217,9217,9217,9217,9217,4343,Abnormal glycosphingolipid metabolism,HPO,phenotype,PHENOTYPE_9217
9218,9218,9218,9218,9218,9218,9218,9218,34580,Reduced epidermal plectin protein expression,HPO,phenotype,PHENOTYPE_9218
9219,9219,9219,9219,9219,9219,9219,9219,34382,Disease remission,HPO,phenotype,PHENOTYPE_9219
9220,9220,9220,9220,9220,9220,9220,9220,3640,CNS foam cells,HPO,phenotype,PHENOTYPE_9220
9221,9221,9221,9221,9221,9221,9221,9221,9626,Interphalangeal thumb joint contracture,HPO,phenotype,PHENOTYPE_9221
9222,9222,9222,9222,9222,9222,9222,9222,4348,Abnormality of bone mineral density,HPO,phenotype,PHENOTYPE_9222
9223,9223,9223,9223,9223,9223,9223,9223,159,Abnormal lip morphology,HPO,phenotype,PHENOTYPE_9223
9224,9224,9224,9224,9224,9224,9224,9224,12670,Orthostatic syncope,HPO,phenotype,PHENOTYPE_9224
9225,9225,9225,9225,9225,9225,9225,9225,11619,Pulmonary situs ambiguus with bilateral morphologic left lungs,HPO,phenotype,PHENOTYPE_9225
9226,9226,9226,9226,9226,9226,9226,9226,31767,Consecutive esotropia,HPO,phenotype,PHENOTYPE_9226
9227,9227,9227,9227,9227,9227,9227,9227,6000270,Elevated CSF saccharopine concentration,HPO,phenotype,PHENOTYPE_9227
9228,9228,9228,9228,9228,9228,9228,9228,661,Palpebral fissure narrowing on adduction,HPO,phenotype,PHENOTYPE_9228
9229,9229,9229,9229,9229,9229,9229,9229,30313,Abnormal periosteum morphology,HPO,phenotype,PHENOTYPE_9229
9230,9230,9230,9230,9230,9230,9230,9230,3000054,Abnormal inferior alveolar artery morphology,HPO,phenotype,PHENOTYPE_9230
9231,9231,9231,9231,9231,9231,9231,9231,34420,History of cardiovascular procedure,HPO,phenotype,PHENOTYPE_9231
9232,9232,9232,9232,9232,9232,9232,9232,10900,Abnormal circulating threonine concentration,HPO,phenotype,PHENOTYPE_9232
9233,9233,9233,9233,9233,9233,9233,9233,25509,Piezogenic pedal papules,HPO,phenotype,PHENOTYPE_9233
9234,9234,9234,9234,9234,9234,9234,9234,31341,Gastric arteriovenous malformation,HPO,phenotype,PHENOTYPE_9234
9235,9235,9235,9235,9235,9235,9235,9235,25256,Ameliorated by heat,HPO,phenotype,PHENOTYPE_9235
9236,9236,9236,9236,9236,9236,9236,9236,6000690,Elevated CSF dihydrobiopterin concentration,HPO,phenotype,PHENOTYPE_9236
9237,9237,9237,9237,9237,9237,9237,9237,30647,Paracentral,HPO,phenotype,PHENOTYPE_9237
9238,9238,9238,9238,9238,9238,9238,9238,31569,Absent aortic valve cusps,HPO,phenotype,PHENOTYPE_9238
9239,9239,9239,9239,9239,9239,9239,9239,10187,Bullet-shaped distal toe phalanx,HPO,phenotype,PHENOTYPE_9239
9240,9240,9240,9240,9240,9240,9240,9240,32294,Monoclonal elevation of IgG kappa chain,HPO,phenotype,PHENOTYPE_9240
9241,9241,9241,9241,9241,9241,9241,9241,34139,Anti-SUMO-activating enzyme antibody positivity,HPO,phenotype,PHENOTYPE_9241
9242,9242,9242,9242,9242,9242,9242,9242,32575,Decreased circulating 12-HETE,HPO,phenotype,PHENOTYPE_9242
9243,9243,9243,9243,9243,9243,9243,9243,6000192,Silica dust exposure,HPO,phenotype,PHENOTYPE_9243
9244,9244,9244,9244,9244,9244,9244,9244,6695,Atrioventricular canal defect,HPO,phenotype,PHENOTYPE_9244
9245,9245,9245,9245,9245,9245,9245,9245,11957,Abnormal pectoral muscle morphology,HPO,phenotype,PHENOTYPE_9245
9246,9246,9246,9246,9246,9246,9246,9246,33931,Arcuate artery intima/media necrosis,HPO,phenotype,PHENOTYPE_9246
9247,9247,9247,9247,9247,9247,9247,9247,10899,Abnormal circulating aspartate family amino acid concentration,HPO,phenotype,PHENOTYPE_9247
9248,9248,9248,9248,9248,9248,9248,9248,31719,True distance exotropia,HPO,phenotype,PHENOTYPE_9248
9249,9249,9249,9249,9249,9249,9249,9249,100438,Bullet-shaped proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_9249
9250,9250,9250,9250,9250,9250,9250,9250,10350,Curved 2nd toe phalanx,HPO,phenotype,PHENOTYPE_9250
9251,9251,9251,9251,9251,9251,9251,9251,20064,Abnormal eosinophil count,HPO,phenotype,PHENOTYPE_9251
9252,9252,9252,9252,9252,9252,9252,9252,6000763,Positive CSF treponema pallidum nucleic acid test,HPO,phenotype,PHENOTYPE_9252
9253,9253,9253,9253,9253,9253,9253,9253,25040,Thalamic edema,HPO,phenotype,PHENOTYPE_9253
9254,9254,9254,9254,9254,9254,9254,9254,31274,Hypovolemic shock,HPO,phenotype,PHENOTYPE_9254
9255,9255,9255,9255,9255,9255,9255,9255,8705,Ureteral triplication,HPO,phenotype,PHENOTYPE_9255
9256,9256,9256,9256,9256,9256,9256,9256,34771,Battle sign,HPO,phenotype,PHENOTYPE_9256
9257,9257,9257,9257,9257,9257,9257,9257,5793,Shortening of all distal phalanges of the toes,HPO,phenotype,PHENOTYPE_9257
9258,9258,9258,9258,9258,9258,9258,9258,31097,Abnormal thyroid-stimulating hormone level,HPO,phenotype,PHENOTYPE_9258
9259,9259,9259,9259,9259,9259,9259,9259,31851,Reduced hematocrit,HPO,phenotype,PHENOTYPE_9259
9260,9260,9260,9260,9260,9260,9260,9260,34532,Increased myocardial glycogen content,HPO,phenotype,PHENOTYPE_9260
9261,9261,9261,9261,9261,9261,9261,9261,7066,Proximal limb muscle stiffness,HPO,phenotype,PHENOTYPE_9261
9262,9262,9262,9262,9262,9262,9262,9262,32204,Chronic active Epstein-Barr virus infection,HPO,phenotype,PHENOTYPE_9262
9263,9263,9263,9263,9263,9263,9263,9263,33252,Palmar hyperlinearity,HPO,phenotype,PHENOTYPE_9263
9264,9264,9264,9264,9264,9264,9264,9264,4000077,Fixated interest with abnormal focus,HPO,phenotype,PHENOTYPE_9264
9265,9265,9265,9265,9265,9265,9265,9265,6000860,Diminished tissue very long-chain acyl-CoA dehydrogenase activity,HPO,phenotype,PHENOTYPE_9265
9266,9266,9266,9266,9266,9266,9266,9266,6000017,Elevated circulating soluble FASL concentration,HPO,phenotype,PHENOTYPE_9266
9267,9267,9267,9267,9267,9267,9267,9267,32465,Bladder trabeculation,HPO,phenotype,PHENOTYPE_9267
9268,9268,9268,9268,9268,9268,9268,9268,3000021,Abnormal buccal fat pad morphology,HPO,phenotype,PHENOTYPE_9268
9269,9269,9269,9269,9269,9269,9269,9269,4334,Dermal atrophy,HPO,phenotype,PHENOTYPE_9269
9270,9270,9270,9270,9270,9270,9270,9270,9304,Patchy sclerosis of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_9270
9271,9271,9271,9271,9271,9271,9271,9271,6001024,Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_9271
9272,9272,9272,9272,9272,9272,9272,9272,6001129,Remote trauma history,HPO,phenotype,PHENOTYPE_9272
9273,9273,9273,9273,9273,9273,9273,9273,430011,Defect of palpebral conjunctiva,HPO,phenotype,PHENOTYPE_9273
9274,9274,9274,9274,9274,9274,9274,9274,500252,Increased urine sebacic acid concentration,HPO,phenotype,PHENOTYPE_9274
9275,9275,9275,9275,9275,9275,9275,9275,10072,Patchy sclerosis of the 1st metatarsal,HPO,phenotype,PHENOTYPE_9275
9276,9276,9276,9276,9276,9276,9276,9276,5725,Nonopposable triphalangeal thumb,HPO,phenotype,PHENOTYPE_9276
9277,9277,9277,9277,9277,9277,9277,9277,5404,Increased B cell count,HPO,phenotype,PHENOTYPE_9277
9278,9278,9278,9278,9278,9278,9278,9278,30674,Antenatal onset,HPO,phenotype,PHENOTYPE_9278
9279,9279,9279,9279,9279,9279,9279,9279,33027,Retinal peau d'orange,HPO,phenotype,PHENOTYPE_9279
9280,9280,9280,9280,9280,9280,9280,9280,33989,Hippocampal microinfarct,HPO,phenotype,PHENOTYPE_9280
9281,9281,9281,9281,9281,9281,9281,9281,6000742,Positive nasopharyngeal corynebacterium diphtheriae nucleic acid test,HPO,phenotype,PHENOTYPE_9281
9282,9282,9282,9282,9282,9282,9282,9282,7499,Recurrent staphylococcal infections,HPO,phenotype,PHENOTYPE_9282
9283,9283,9283,9283,9283,9283,9283,9283,8786,Iliac crest serration,HPO,phenotype,PHENOTYPE_9283
9284,9284,9284,9284,9284,9284,9284,9284,402,Stenosis of the external auditory canal,HPO,phenotype,PHENOTYPE_9284
9285,9285,9285,9285,9285,9285,9285,9285,10583,Ivory epiphyses,HPO,phenotype,PHENOTYPE_9285
9286,9286,9286,9286,9286,9286,9286,9286,7549,Desquamation of skin soon after birth,HPO,phenotype,PHENOTYPE_9286
9287,9287,9287,9287,9287,9287,9287,9287,704,Periodontitis,HPO,phenotype,PHENOTYPE_9287
9288,9288,9288,9288,9288,9288,9288,9288,6821,Frontal polymicrogyria,HPO,phenotype,PHENOTYPE_9288
9289,9289,9289,9289,9289,9289,9289,9289,9452,Curved proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_9289
9290,9290,9290,9290,9290,9290,9290,9290,6045,Short pointed phalanges,HPO,phenotype,PHENOTYPE_9290
9291,9291,9291,9291,9291,9291,9291,9291,10720,Abnormal hair pattern,HPO,phenotype,PHENOTYPE_9291
9292,9292,9292,9292,9292,9292,9292,9292,33350,Elevated forced expiratory volume in one second,HPO,phenotype,PHENOTYPE_9292
9293,9293,9293,9293,9293,9293,9293,9293,33226,Bowman capsular hyaline drops,HPO,phenotype,PHENOTYPE_9293
9294,9294,9294,9294,9294,9294,9294,9294,34591,Decreased circulating thyroxine-binding globulin concentration,HPO,phenotype,PHENOTYPE_9294
9295,9295,9295,9295,9295,9295,9295,9295,852,Pseudohypoparathyroidism,HPO,phenotype,PHENOTYPE_9295
9296,9296,9296,9296,9296,9296,9296,9296,12412,Premature adrenarche,HPO,phenotype,PHENOTYPE_9296
9297,9297,9297,9297,9297,9297,9297,9297,9407,Triangular shaped phalanges of the 4th finger,HPO,phenotype,PHENOTYPE_9297
9298,9298,9298,9298,9298,9298,9298,9298,11605,Congenitally corrected transposition of the great arteries with ventricular septal defect,HPO,phenotype,PHENOTYPE_9298
9299,9299,9299,9299,9299,9299,9299,9299,10805,Upturned corners of mouth,HPO,phenotype,PHENOTYPE_9299
9300,9300,9300,9300,9300,9300,9300,9300,33724,Cerebral venous sinus thrombosis,HPO,phenotype,PHENOTYPE_9300
9301,9301,9301,9301,9301,9301,9301,9301,10633,Partial anosmia,HPO,phenotype,PHENOTYPE_9301
9302,9302,9302,9302,9302,9302,9302,9302,12112,Abnormal circulating corticosterone level,HPO,phenotype,PHENOTYPE_9302
9303,9303,9303,9303,9303,9303,9303,9303,31621,Anterior chamber flare grade 4+,HPO,phenotype,PHENOTYPE_9303
9304,9304,9304,9304,9304,9304,9304,9304,100273,Neoplasm of the colon,HPO,phenotype,PHENOTYPE_9304
9305,9305,9305,9305,9305,9305,9305,9305,100097,Abnormality of the epiphysis of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_9305
9306,9306,9306,9306,9306,9306,9306,9306,2010,Narrow maxilla,HPO,phenotype,PHENOTYPE_9306
9307,9307,9307,9307,9307,9307,9307,9307,3111,Abnormal blood ion concentration,HPO,phenotype,PHENOTYPE_9307
9308,9308,9308,9308,9308,9308,9308,9308,2792,Reduced vital capacity,HPO,phenotype,PHENOTYPE_9308
9309,9309,9309,9309,9309,9309,9309,9309,6000572,Reduced tissue arginine:glycine amidinotransferase activity,HPO,phenotype,PHENOTYPE_9309
9310,9310,9310,9310,9310,9310,9310,9310,31176,Absent thoracic vertebra,HPO,phenotype,PHENOTYPE_9310
9311,9311,9311,9311,9311,9311,9311,9311,9352,Ivory epiphysis of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_9311
9312,9312,9312,9312,9312,9312,9312,9312,7925,Lacrimal duct aplasia,HPO,phenotype,PHENOTYPE_9312
9313,9313,9313,9313,9313,9313,9313,9313,6000604,Elevated urinary 3-hydroxypentanoic acid level,HPO,phenotype,PHENOTYPE_9313
9314,9314,9314,9314,9314,9314,9314,9314,25790,Radiodense,HPO,phenotype,PHENOTYPE_9314
9315,9315,9315,9315,9315,9315,9315,9315,34373,External tibial torsion,HPO,phenotype,PHENOTYPE_9315
9316,9316,9316,9316,9316,9316,9316,9316,3209,Decreased pyruvate carboxylase activity,HPO,phenotype,PHENOTYPE_9316
9317,9317,9317,9317,9317,9317,9317,9317,11329,Abnormality of cranial sutures,HPO,phenotype,PHENOTYPE_9317
9318,9318,9318,9318,9318,9318,9318,9318,10847,EEG with spike-wave complexes (<2.5 Hz),HPO,phenotype,PHENOTYPE_9318
9319,9319,9319,9319,9319,9319,9319,9319,34257,C4 nephritic factor positivity,HPO,phenotype,PHENOTYPE_9319
9320,9320,9320,9320,9320,9320,9320,9320,5396,Susceptibility to coronavirus 229e,HPO,phenotype,PHENOTYPE_9320
9321,9321,9321,9321,9321,9321,9321,9321,30033,Small finger,HPO,phenotype,PHENOTYPE_9321
9322,9322,9322,9322,9322,9322,9322,9322,31889,Abnormal VLDL cholesterol concentration,HPO,phenotype,PHENOTYPE_9322
9323,9323,9323,9323,9323,9323,9323,9323,41047,Bladder outlet obstruction,HPO,phenotype,PHENOTYPE_9323
9324,9324,9324,9324,9324,9324,9324,9324,12596,Moderate proteinuria,HPO,phenotype,PHENOTYPE_9324
9325,9325,9325,9325,9325,9325,9325,9325,31304,Iliac arterial calcification,HPO,phenotype,PHENOTYPE_9325
9326,9326,9326,9326,9326,9326,9326,9326,34609,Polychromasia,HPO,phenotype,PHENOTYPE_9326
9327,9327,9327,9327,9327,9327,9327,9327,10161,Abnormal toe phalanx morphology,HPO,phenotype,PHENOTYPE_9327
9328,9328,9328,9328,9328,9328,9328,9328,8060,Aplasia/Hypoplasia of the fovea,HPO,phenotype,PHENOTYPE_9328
9329,9329,9329,9329,9329,9329,9329,9329,5556,Abnormality of the metopic suture,HPO,phenotype,PHENOTYPE_9329
9330,9330,9330,9330,9330,9330,9330,9330,100253,Abnormality of the medullary cavity of the long bones,HPO,phenotype,PHENOTYPE_9330
9331,9331,9331,9331,9331,9331,9331,9331,34763,Cardiac neurofibroma,HPO,phenotype,PHENOTYPE_9331
9332,9332,9332,9332,9332,9332,9332,9332,32786,Migrating focal seizure,HPO,phenotype,PHENOTYPE_9332
9333,9333,9333,9333,9333,9333,9333,9333,430070,Placenta previa,HPO,phenotype,PHENOTYPE_9333
9334,9334,9334,9334,9334,9334,9334,9334,100678,Premature skin wrinkling,HPO,phenotype,PHENOTYPE_9334
9335,9335,9335,9335,9335,9335,9335,9335,500015,Abnormal cardiac test,HPO,phenotype,PHENOTYPE_9335
9336,9336,9336,9336,9336,9336,9336,9336,6000935,Prolonged retraction of penile foreskin,HPO,phenotype,PHENOTYPE_9336
9337,9337,9337,9337,9337,9337,9337,9337,384,Preauricular skin tag,HPO,phenotype,PHENOTYPE_9337
9338,9338,9338,9338,9338,9338,9338,9338,32106,Conjunctival icterus,HPO,phenotype,PHENOTYPE_9338
9339,9339,9339,9339,9339,9339,9339,9339,41087,Compression-fractured lumbar vertebra,HPO,phenotype,PHENOTYPE_9339
9340,9340,9340,9340,9340,9340,9340,9340,1881,Abnormal leukocyte morphology,HPO,phenotype,PHENOTYPE_9340
9341,9341,9341,9341,9341,9341,9341,9341,31554,Reduced granulocyte CD55 level,HPO,phenotype,PHENOTYPE_9341
9342,9342,9342,9342,9342,9342,9342,9342,6000326,Cardiac valve vegetations,HPO,phenotype,PHENOTYPE_9342
9343,9343,9343,9343,9343,9343,9343,9343,6709,Aplasia/Hypoplasia of the nipples,HPO,phenotype,PHENOTYPE_9343
9344,9344,9344,9344,9344,9344,9344,9344,3555,Muscle fiber splitting,HPO,phenotype,PHENOTYPE_9344
9345,9345,9345,9345,9345,9345,9345,9345,8817,Aplastic pubic bone,HPO,phenotype,PHENOTYPE_9345
9346,9346,9346,9346,9346,9346,9346,9346,100503,Decreased circulating vitamin B1 concentration,HPO,phenotype,PHENOTYPE_9346
9347,9347,9347,9347,9347,9347,9347,9347,500045,Collier's sign,HPO,phenotype,PHENOTYPE_9347
9348,9348,9348,9348,9348,9348,9348,9348,430020,Abnormality of levator labii superioris alaeque nasi muscle,HPO,phenotype,PHENOTYPE_9348
9349,9349,9349,9349,9349,9349,9349,9349,5338,Sparse lateral eyebrow,HPO,phenotype,PHENOTYPE_9349
9350,9350,9350,9350,9350,9350,9350,9350,6000975,Elevated CSF sepiapterin concentration,HPO,phenotype,PHENOTYPE_9350
9351,9351,9351,9351,9351,9351,9351,9351,200024,Premature chromatid separation,HPO,phenotype,PHENOTYPE_9351
9352,9352,9352,9352,9352,9352,9352,9352,3888,Flattened humeral heads,HPO,phenotype,PHENOTYPE_9352
9353,9353,9353,9353,9353,9353,9353,9353,7609,Hypoproteinemic edema,HPO,phenotype,PHENOTYPE_9353
9354,9354,9354,9354,9354,9354,9354,9354,33187,Hyperimidodipeptiduria,HPO,phenotype,PHENOTYPE_9354
9355,9355,9355,9355,9355,9355,9355,9355,100483,Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal,HPO,phenotype,PHENOTYPE_9355
9356,9356,9356,9356,9356,9356,9356,9356,6916,Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material,HPO,phenotype,PHENOTYPE_9356
9357,9357,9357,9357,9357,9357,9357,9357,11465,Duodenal aganglionosis,HPO,phenotype,PHENOTYPE_9357
9358,9358,9358,9358,9358,9358,9358,9358,30347,Abnormal circulating androgen level,HPO,phenotype,PHENOTYPE_9358
9359,9359,9359,9359,9359,9359,9359,9359,25262,Stiff hip,HPO,phenotype,PHENOTYPE_9359
9360,9360,9360,9360,9360,9360,9360,9360,11477,Upbeat nystagmus,HPO,phenotype,PHENOTYPE_9360
9361,9361,9361,9361,9361,9361,9361,9361,4031,Broad radial diaphysis,HPO,phenotype,PHENOTYPE_9361
9362,9362,9362,9362,9362,9362,9362,9362,6681,Absent atrioventricular node,HPO,phenotype,PHENOTYPE_9362
9363,9363,9363,9363,9363,9363,9363,9363,126,Hydronephrosis,HPO,phenotype,PHENOTYPE_9363
9364,9364,9364,9364,9364,9364,9364,9364,4681,Deep longitudinal plantar crease,HPO,phenotype,PHENOTYPE_9364
9365,9365,9365,9365,9365,9365,9365,9365,4762,Hypoplasia of right ventricle,HPO,phenotype,PHENOTYPE_9365
9366,9366,9366,9366,9366,9366,9366,9366,5430,Recurrent Neisserial infections,HPO,phenotype,PHENOTYPE_9366
9367,9367,9367,9367,9367,9367,9367,9367,12408,Medullary nephrocalcinosis,HPO,phenotype,PHENOTYPE_9367
9368,9368,9368,9368,9368,9368,9368,9368,31787,Oblique astigmatism,HPO,phenotype,PHENOTYPE_9368
9369,9369,9369,9369,9369,9369,9369,9369,3973,Wide radioulnar joints,HPO,phenotype,PHENOTYPE_9369
9370,9370,9370,9370,9370,9370,9370,9370,30111,Reduced muscle fiber delta sarcoglycan,HPO,phenotype,PHENOTYPE_9370
9371,9371,9371,9371,9371,9371,9371,9371,31697,Disseminated infection with live vaccine virus,HPO,phenotype,PHENOTYPE_9371
9372,9372,9372,9372,9372,9372,9372,9372,1966,Abnormal glomerular mesangium morphology,HPO,phenotype,PHENOTYPE_9372
9373,9373,9373,9373,9373,9373,9373,9373,33211,Decreased total iron binding capacity,HPO,phenotype,PHENOTYPE_9373
9374,9374,9374,9374,9374,9374,9374,9374,5453,Absent/hypoplastic paranasal sinuses,HPO,phenotype,PHENOTYPE_9374
9375,9375,9375,9375,9375,9375,9375,9375,31130,Impaired calcium ionophore-induced platelet aggregation,HPO,phenotype,PHENOTYPE_9375
9376,9376,9376,9376,9376,9376,9376,9376,20158,Increased circulating adrenic acid concentration,HPO,phenotype,PHENOTYPE_9376
9377,9377,9377,9377,9377,9377,9377,9377,40084,Abnormal circulating renin concentration,HPO,phenotype,PHENOTYPE_9377
9378,9378,9378,9378,9378,9378,9378,9378,41086,Compression-fractured cervical vertebra,HPO,phenotype,PHENOTYPE_9378
9379,9379,9379,9379,9379,9379,9379,9379,3487,Babinski sign,HPO,phenotype,PHENOTYPE_9379
9380,9380,9380,9380,9380,9380,9380,9380,33421,Pulmonary artery intimal thickening,HPO,phenotype,PHENOTYPE_9380
9381,9381,9381,9381,9381,9381,9381,9381,25016,Abnormal capillary morphology,HPO,phenotype,PHENOTYPE_9381
9382,9382,9382,9382,9382,9382,9382,9382,9761,Anterior clefting of vertebral bodies,HPO,phenotype,PHENOTYPE_9382
9383,9383,9383,9383,9383,9383,9383,9383,9733,Glioma,HPO,phenotype,PHENOTYPE_9383
9384,9384,9384,9384,9384,9384,9384,9384,1868,Autoamputation of foot,HPO,phenotype,PHENOTYPE_9384
9385,9385,9385,9385,9385,9385,9385,9385,25221,Triggered by pregnancy,HPO,phenotype,PHENOTYPE_9385
9386,9386,9386,9386,9386,9386,9386,9386,9175,Patchy sclerosis of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_9386
9387,9387,9387,9387,9387,9387,9387,9387,25368,Abnormal growth plate morphology,HPO,phenotype,PHENOTYPE_9387
9388,9388,9388,9388,9388,9388,9388,9388,30158,Cervical ectropion,HPO,phenotype,PHENOTYPE_9388
9389,9389,9389,9389,9389,9389,9389,9389,25451,Testicular adrenal rest tumor,HPO,phenotype,PHENOTYPE_9389
9390,9390,9390,9390,9390,9390,9390,9390,5756,Neonatal epiphyseal stippling,HPO,phenotype,PHENOTYPE_9390
9391,9391,9391,9391,9391,9391,9391,9391,4945,Extracranial internal carotid artery dissection,HPO,phenotype,PHENOTYPE_9391
9392,9392,9392,9392,9392,9392,9392,9392,8665,Clitoral hypertrophy,HPO,phenotype,PHENOTYPE_9392
9393,9393,9393,9393,9393,9393,9393,9393,31570,Tessier number 0 facial cleft,HPO,phenotype,PHENOTYPE_9393
9394,9394,9394,9394,9394,9394,9394,9394,100165,Small epiphysis of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_9394
9395,9395,9395,9395,9395,9395,9395,9395,33665,Diminished health-related quality of life,HPO,phenotype,PHENOTYPE_9395
9396,9396,9396,9396,9396,9396,9396,9396,10521,Gait apraxia,HPO,phenotype,PHENOTYPE_9396
9397,9397,9397,9397,9397,9397,9397,9397,31829,Absent cremaster reflex,HPO,phenotype,PHENOTYPE_9397
9398,9398,9398,9398,9398,9398,9398,9398,100539,Periorbital edema,HPO,phenotype,PHENOTYPE_9398
9399,9399,9399,9399,9399,9399,9399,9399,100516,Neoplasm of the ureter,HPO,phenotype,PHENOTYPE_9399
9400,9400,9400,9400,9400,9400,9400,9400,34566,Aplasia of posterior communicating artery,HPO,phenotype,PHENOTYPE_9400
9401,9401,9401,9401,9401,9401,9401,9401,6000789,Heloma,HPO,phenotype,PHENOTYPE_9401
9402,9402,9402,9402,9402,9402,9402,9402,11222,Depressed glabella,HPO,phenotype,PHENOTYPE_9402
9403,9403,9403,9403,9403,9403,9403,9403,32002,Orange urine,HPO,phenotype,PHENOTYPE_9403
9404,9404,9404,9404,9404,9404,9404,9404,5152,Histiocytoid cardiomyopathy,HPO,phenotype,PHENOTYPE_9404
9405,9405,9405,9405,9405,9405,9405,9405,11426,Fetal choroid plexus cysts,HPO,phenotype,PHENOTYPE_9405
9406,9406,9406,9406,9406,9406,9406,9406,410356,Abnormal high-mannose N-glycan level,HPO,phenotype,PHENOTYPE_9406
9407,9407,9407,9407,9407,9407,9407,9407,32125,Increased proportion of unswitched memory B cells,HPO,phenotype,PHENOTYPE_9407
9408,9408,9408,9408,9408,9408,9408,9408,100945,Sclerosis of the 1st metatarsal,HPO,phenotype,PHENOTYPE_9408
9409,9409,9409,9409,9409,9409,9409,9409,2151,Increased circulating lactate concentration,HPO,phenotype,PHENOTYPE_9409
9410,9410,9410,9410,9410,9410,9410,9410,31754,Medial rectus muscle overaction,HPO,phenotype,PHENOTYPE_9410
9411,9411,9411,9411,9411,9411,9411,9411,25582,Submacular hemorrhage,HPO,phenotype,PHENOTYPE_9411
9412,9412,9412,9412,9412,9412,9412,9412,3762,Uterus didelphys,HPO,phenotype,PHENOTYPE_9412
9413,9413,9413,9413,9413,9413,9413,9413,32412,Anterior predominant subcortical band heterotopia,HPO,phenotype,PHENOTYPE_9413
9414,9414,9414,9414,9414,9414,9414,9414,30875,Abnormality of pulmonary circulation,HPO,phenotype,PHENOTYPE_9414
9415,9415,9415,9415,9415,9415,9415,9415,10167,Irregular epiphyses of the toes,HPO,phenotype,PHENOTYPE_9415
9416,9416,9416,9416,9416,9416,9416,9416,9465,Ulnar deviation of finger,HPO,phenotype,PHENOTYPE_9416
9417,9417,9417,9417,9417,9417,9417,9417,816,Abnormality of Krebs cycle metabolism,HPO,phenotype,PHENOTYPE_9417
9418,9418,9418,9418,9418,9418,9418,9418,6001125,Skin laceration,HPO,phenotype,PHENOTYPE_9418
9419,9419,9419,9419,9419,9419,9419,9419,11790,Activating thyroid-stimulating hormone receptor defect,HPO,phenotype,PHENOTYPE_9419
9420,9420,9420,9420,9420,9420,9420,9420,1714,Ventricular hypertrophy,HPO,phenotype,PHENOTYPE_9420
9421,9421,9421,9421,9421,9421,9421,9421,31123,Recurrent gastroenteritis,HPO,phenotype,PHENOTYPE_9421
9422,9422,9422,9422,9422,9422,9422,9422,5146,Cardiac valve calcification,HPO,phenotype,PHENOTYPE_9422
9423,9423,9423,9423,9423,9423,9423,9423,32166,Unusual gastrointestinal infection,HPO,phenotype,PHENOTYPE_9423
9424,9424,9424,9424,9424,9424,9424,9424,30209,Calcium channel antibody positivity,HPO,phenotype,PHENOTYPE_9424
9425,9425,9425,9425,9425,9425,9425,9425,10998,Increased susceptibility to spontaneous sister chromatid exchange,HPO,phenotype,PHENOTYPE_9425
9426,9426,9426,9426,9426,9426,9426,9426,3275,Narrow pelvis bone,HPO,phenotype,PHENOTYPE_9426
9427,9427,9427,9427,9427,9427,9427,9427,31027,Internal notch of the femoral head,HPO,phenotype,PHENOTYPE_9427
9428,9428,9428,9428,9428,9428,9428,9428,12469,Infantile spasms,HPO,phenotype,PHENOTYPE_9428
9429,9429,9429,9429,9429,9429,9429,9429,2500,Abnormal cerebral white matter morphology,HPO,phenotype,PHENOTYPE_9429
9430,9430,9430,9430,9430,9430,9430,9430,20049,Exodeviation,HPO,phenotype,PHENOTYPE_9430
9431,9431,9431,9431,9431,9431,9431,9431,25649,Steroid-sensitive nephrotic syndrome with frequent relapses,HPO,phenotype,PHENOTYPE_9431
9432,9432,9432,9432,9432,9432,9432,9432,30897,Decreased intestinal transit time,HPO,phenotype,PHENOTYPE_9432
9433,9433,9433,9433,9433,9433,9433,9433,32518,Disseminated dermatophytosis,HPO,phenotype,PHENOTYPE_9433
9434,9434,9434,9434,9434,9434,9434,9434,5681,Juvenile rheumatoid arthritis,HPO,phenotype,PHENOTYPE_9434
9435,9435,9435,9435,9435,9435,9435,9435,10592,Abnormality of the distal tibial epiphysis,HPO,phenotype,PHENOTYPE_9435
9436,9436,9436,9436,9436,9436,9436,9436,293,Full cheeks,HPO,phenotype,PHENOTYPE_9436
9437,9437,9437,9437,9437,9437,9437,9437,4338,Abnormal circulating aromatic amino acid concentration,HPO,phenotype,PHENOTYPE_9437
9438,9438,9438,9438,9438,9438,9438,9438,30638,Congenital stationary night blindness with normal fundus,HPO,phenotype,PHENOTYPE_9438
9439,9439,9439,9439,9439,9439,9439,9439,6000551,Positive Dengue virus PCR test in the blood circulation,HPO,phenotype,PHENOTYPE_9439
9440,9440,9440,9440,9440,9440,9440,9440,33022,Chronic decreased circulating IgE concentration,HPO,phenotype,PHENOTYPE_9440
9441,9441,9441,9441,9441,9441,9441,9441,100592,Peritoneal abscess,HPO,phenotype,PHENOTYPE_9441
9442,9442,9442,9442,9442,9442,9442,9442,500159,Increased circulating aspartic acid concentration,HPO,phenotype,PHENOTYPE_9442
9443,9443,9443,9443,9443,9443,9443,9443,500210,Increased CSF methionine concentration,HPO,phenotype,PHENOTYPE_9443
9444,9444,9444,9444,9444,9444,9444,9444,11249,Absent antitragus,HPO,phenotype,PHENOTYPE_9444
9445,9445,9445,9445,9445,9445,9445,9445,5850,Congenital talipes calcaneovalgus,HPO,phenotype,PHENOTYPE_9445
9446,9446,9446,9446,9446,9446,9446,9446,9084,Midline notch of upper alveolar ridge,HPO,phenotype,PHENOTYPE_9446
9447,9447,9447,9447,9447,9447,9447,9447,33475,Limited shoulder abduction,HPO,phenotype,PHENOTYPE_9447
9448,9448,9448,9448,9448,9448,9448,9448,550003,Proximal scleroderma,HPO,phenotype,PHENOTYPE_9448
9449,9449,9449,9449,9449,9449,9449,9449,41240,Fractured phalanx of pes,HPO,phenotype,PHENOTYPE_9449
9450,9450,9450,9450,9450,9450,9450,9450,46507,Bradypnea,HPO,phenotype,PHENOTYPE_9450
9451,9451,9451,9451,9451,9451,9451,9451,7932,Bilateral congenital mydriasis,HPO,phenotype,PHENOTYPE_9451
9452,9452,9452,9452,9452,9452,9452,9452,40207,Abnormal CSF pterin concentration,HPO,phenotype,PHENOTYPE_9452
9453,9453,9453,9453,9453,9453,9453,9453,33973,Interlobular vein medial hypertrophy,HPO,phenotype,PHENOTYPE_9453
9454,9454,9454,9454,9454,9454,9454,9454,3609,Foam cells with lamellar inclusion bodies,HPO,phenotype,PHENOTYPE_9454
9455,9455,9455,9455,9455,9455,9455,9455,975,Hyperhidrosis,HPO,phenotype,PHENOTYPE_9455
9456,9456,9456,9456,9456,9456,9456,9456,100433,Broad distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_9456
9457,9457,9457,9457,9457,9457,9457,9457,20267,Lymph-node follicular sclerosis,HPO,phenotype,PHENOTYPE_9457
9458,9458,9458,9458,9458,9458,9458,9458,12339,Increased resting energy expenditure,HPO,phenotype,PHENOTYPE_9458
9459,9459,9459,9459,9459,9459,9459,9459,32908,Focal aware undressing automatism seizure,HPO,phenotype,PHENOTYPE_9459
9460,9460,9460,9460,9460,9460,9460,9460,25740,Elevated brain succinate level by MRS,HPO,phenotype,PHENOTYPE_9460
9461,9461,9461,9461,9461,9461,9461,9461,2896,Neoplasm of the liver,HPO,phenotype,PHENOTYPE_9461
9462,9462,9462,9462,9462,9462,9462,9462,34999,Intracellular accumulation of collagen VII,HPO,phenotype,PHENOTYPE_9462
9463,9463,9463,9463,9463,9463,9463,9463,500170,Abnormal concentration of acylcarnitine in the urine,HPO,phenotype,PHENOTYPE_9463
9464,9464,9464,9464,9464,9464,9464,9464,9968,Partial duplication of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_9464
9465,9465,9465,9465,9465,9465,9465,9465,32313,Frontotemporal hypertrichosis,HPO,phenotype,PHENOTYPE_9465
9466,9466,9466,9466,9466,9466,9466,9466,30141,Abnormality of the posterior hairline,HPO,phenotype,PHENOTYPE_9466
9467,9467,9467,9467,9467,9467,9467,9467,7616,Nevus flammeus nuchae,HPO,phenotype,PHENOTYPE_9467
9468,9468,9468,9468,9468,9468,9468,9468,1688,Sinus bradycardia,HPO,phenotype,PHENOTYPE_9468
9469,9469,9469,9469,9469,9469,9469,9469,5200428,Delusional misidentification,HPO,phenotype,PHENOTYPE_9469
9470,9470,9470,9470,9470,9470,9470,9470,31030,Elevated carcinoma antigen 125 level,HPO,phenotype,PHENOTYPE_9470
9471,9471,9471,9471,9471,9471,9471,9471,4001,Medially deficient radial epiphyses,HPO,phenotype,PHENOTYPE_9471
9472,9472,9472,9472,9472,9472,9472,9472,6000237,Elevated circulating 3-hydroxybutyryl-carnitine concentration,HPO,phenotype,PHENOTYPE_9472
9473,9473,9473,9473,9473,9473,9473,9473,9127,Abnormality of the musculature of the limbs,HPO,phenotype,PHENOTYPE_9473
9474,9474,9474,9474,9474,9474,9474,9474,8155,Mucopolysacchariduria,HPO,phenotype,PHENOTYPE_9474
9475,9475,9475,9475,9475,9475,9475,9475,34629,Xanthoma of bone,HPO,phenotype,PHENOTYPE_9475
9476,9476,9476,9476,9476,9476,9476,9476,6000251,Small intestinal intraepithelial lymphocytosis,HPO,phenotype,PHENOTYPE_9476
9477,9477,9477,9477,9477,9477,9477,9477,100348,Contracture of the proximal interphalangeal joint of the 2nd toe,HPO,phenotype,PHENOTYPE_9477
9478,9478,9478,9478,9478,9478,9478,9478,410201,Positive hair barbiturate test,HPO,phenotype,PHENOTYPE_9478
9479,9479,9479,9479,9479,9479,9479,9479,1187,Hyperextensibility of the finger joints,HPO,phenotype,PHENOTYPE_9479
9480,9480,9480,9480,9480,9480,9480,9480,410221,Increased anti-animal protein IgE antibody level,HPO,phenotype,PHENOTYPE_9480
9481,9481,9481,9481,9481,9481,9481,9481,512,Abnormal electroretinogram,HPO,phenotype,PHENOTYPE_9481
9482,9482,9482,9482,9482,9482,9482,9482,41066,Chronic partially decreased circulating IgG2,HPO,phenotype,PHENOTYPE_9482
9483,9483,9483,9483,9483,9483,9483,9483,1981,Schistocytosis,HPO,phenotype,PHENOTYPE_9483
9484,9484,9484,9484,9484,9484,9484,9484,500206,Abnormal CSF lysine concentration,HPO,phenotype,PHENOTYPE_9484
9485,9485,9485,9485,9485,9485,9485,9485,9372,Type A2 brachydactyly,HPO,phenotype,PHENOTYPE_9485
9486,9486,9486,9486,9486,9486,9486,9486,8800,Limited hip movement,HPO,phenotype,PHENOTYPE_9486
9487,9487,9487,9487,9487,9487,9487,9487,25024,Megarectum,HPO,phenotype,PHENOTYPE_9487
9488,9488,9488,9488,9488,9488,9488,9488,31607,Pelvic organ prolapse,HPO,phenotype,PHENOTYPE_9488
9489,9489,9489,9489,9489,9489,9489,9489,30927,1-minute APGAR score of 0,HPO,phenotype,PHENOTYPE_9489
9490,9490,9490,9490,9490,9490,9490,9490,31011,Fatty streak,HPO,phenotype,PHENOTYPE_9490
9491,9491,9491,9491,9491,9491,9491,9491,6599,Medial widening of clavicles,HPO,phenotype,PHENOTYPE_9491
9492,9492,9492,9492,9492,9492,9492,9492,32809,Neonatal electro-clinical seizure,HPO,phenotype,PHENOTYPE_9492
9493,9493,9493,9493,9493,9493,9493,9493,33328,Type II pneumocyte hyperplasia,HPO,phenotype,PHENOTYPE_9493
9494,9494,9494,9494,9494,9494,9494,9494,6802,Abnormal anterior horn cell morphology,HPO,phenotype,PHENOTYPE_9494
9495,9495,9495,9495,9495,9495,9495,9495,6000816,Prominent lesser trochanter,HPO,phenotype,PHENOTYPE_9495
9496,9496,9496,9496,9496,9496,9496,9496,3978,Fractured radius,HPO,phenotype,PHENOTYPE_9496
9497,9497,9497,9497,9497,9497,9497,9497,31423,Small cerebellar cortex,HPO,phenotype,PHENOTYPE_9497
9498,9498,9498,9498,9498,9498,9498,9498,5781,Contractures of the large joints,HPO,phenotype,PHENOTYPE_9498
9499,9499,9499,9499,9499,9499,9499,9499,33189,Radiculomegaly,HPO,phenotype,PHENOTYPE_9499
9500,9500,9500,9500,9500,9500,9500,9500,25422,Pleural cyst,HPO,phenotype,PHENOTYPE_9500
9501,9501,9501,9501,9501,9501,9501,9501,1196,Short umbilical cord,HPO,phenotype,PHENOTYPE_9501
9502,9502,9502,9502,9502,9502,9502,9502,33323,Glomerular capillary wall duplication with cellular interposition,HPO,phenotype,PHENOTYPE_9502
9503,9503,9503,9503,9503,9503,9503,9503,100160,Enlarged epiphysis of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_9503
9504,9504,9504,9504,9504,9504,9504,9504,9227,Broad proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_9504
9505,9505,9505,9505,9505,9505,9505,9505,5200234,Flight of ideas,HPO,phenotype,PHENOTYPE_9505
9506,9506,9506,9506,9506,9506,9506,9506,574,Thick eyebrow,HPO,phenotype,PHENOTYPE_9506
9507,9507,9507,9507,9507,9507,9507,9507,430106,Abnormal brain-evoked potentials,HPO,phenotype,PHENOTYPE_9507
9508,9508,9508,9508,9508,9508,9508,9508,3271,Visceromegaly,HPO,phenotype,PHENOTYPE_9508
9509,9509,9509,9509,9509,9509,9509,9509,1483,Eye poking,HPO,phenotype,PHENOTYPE_9509
9510,9510,9510,9510,9510,9510,9510,9510,33594,Elevated urinary 7-biopterin level,HPO,phenotype,PHENOTYPE_9510
9511,9511,9511,9511,9511,9511,9511,9511,32757,Focal aware hemiclonic seizure,HPO,phenotype,PHENOTYPE_9511
9512,9512,9512,9512,9512,9512,9512,9512,9783,Biceps aplasia,HPO,phenotype,PHENOTYPE_9512
9513,9513,9513,9513,9513,9513,9513,9513,31059,Impaired ability to bathe oneself,HPO,phenotype,PHENOTYPE_9513
9514,9514,9514,9514,9514,9514,9514,9514,500098,Meconium xenobiotic,HPO,phenotype,PHENOTYPE_9514
9515,9515,9515,9515,9515,9515,9515,9515,3086,Acromesomelia,HPO,phenotype,PHENOTYPE_9515
9516,9516,9516,9516,9516,9516,9516,9516,6559,Hepatic calcification,HPO,phenotype,PHENOTYPE_9516
9517,9517,9517,9517,9517,9517,9517,9517,12230,Rhegmatogenous retinal detachment,HPO,phenotype,PHENOTYPE_9517
9518,9518,9518,9518,9518,9518,9518,9518,30746,Intraventricular hemorrhage,HPO,phenotype,PHENOTYPE_9518
9519,9519,9519,9519,9519,9519,9519,9519,410332,Plant based food allergy,HPO,phenotype,PHENOTYPE_9519
9520,9520,9520,9520,9520,9520,9520,9520,3191,Cleft ala nasi,HPO,phenotype,PHENOTYPE_9520
9521,9521,9521,9521,9521,9521,9521,9521,9298,Aplasia of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_9521
9522,9522,9522,9522,9522,9522,9522,9522,4000129,Recent blood transfusion,HPO,phenotype,PHENOTYPE_9522
9523,9523,9523,9523,9523,9523,9523,9523,200068,Nonprogressive visual loss,HPO,phenotype,PHENOTYPE_9523
9524,9524,9524,9524,9524,9524,9524,9524,32976,Elevated bronchoalveolar lavage fluid lymphocyte proportion,HPO,phenotype,PHENOTYPE_9524
9525,9525,9525,9525,9525,9525,9525,9525,30441,Anal margin Paget's disease,HPO,phenotype,PHENOTYPE_9525
9526,9526,9526,9526,9526,9526,9526,9526,6000778,Cone-shaped distal tibial epiphysis,HPO,phenotype,PHENOTYPE_9526
9527,9527,9527,9527,9527,9527,9527,9527,11081,Incisor macrodontia,HPO,phenotype,PHENOTYPE_9527
9528,9528,9528,9528,9528,9528,9528,9528,3739,Myoclonic spasms,HPO,phenotype,PHENOTYPE_9528
9529,9529,9529,9529,9529,9529,9529,9529,20156,Abnormal zona pellucida morphology,HPO,phenotype,PHENOTYPE_9529
9530,9530,9530,9530,9530,9530,9530,9530,11722,Mixed total anomalous pulmonary venous connection,HPO,phenotype,PHENOTYPE_9530
9531,9531,9531,9531,9531,9531,9531,9531,6000834,Elevated urinary gamma-glutamylcysteine level,HPO,phenotype,PHENOTYPE_9531
9532,9532,9532,9532,9532,9532,9532,9532,12347,Abnormal protein N-linked glycosylation,HPO,phenotype,PHENOTYPE_9532
9533,9533,9533,9533,9533,9533,9533,9533,31069,Abnormal femoral torsion,HPO,phenotype,PHENOTYPE_9533
9534,9534,9534,9534,9534,9534,9534,9534,100404,Duplication of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_9534
9535,9535,9535,9535,9535,9535,9535,9535,33794,Acral overgrowth,HPO,phenotype,PHENOTYPE_9535
9536,9536,9536,9536,9536,9536,9536,9536,1994,Renal Fanconi syndrome,HPO,phenotype,PHENOTYPE_9536
9537,9537,9537,9537,9537,9537,9537,9537,6001064,Anti-acetylcholine receptor antibody positivity,HPO,phenotype,PHENOTYPE_9537
9538,9538,9538,9538,9538,9538,9538,9538,25535,Shawl sign,HPO,phenotype,PHENOTYPE_9538
9539,9539,9539,9539,9539,9539,9539,9539,6288,Advanced eruption of teeth,HPO,phenotype,PHENOTYPE_9539
9540,9540,9540,9540,9540,9540,9540,9540,4000126,Raw egg-white ingestion,HPO,phenotype,PHENOTYPE_9540
9541,9541,9541,9541,9541,9541,9541,9541,9419,Stippling of the epiphyses of the 3rd finger,HPO,phenotype,PHENOTYPE_9541
9542,9542,9542,9542,9542,9542,9542,9542,10209,Symphalangism affecting the proximal phalanges of the toes,HPO,phenotype,PHENOTYPE_9542
9543,9543,9543,9543,9543,9543,9543,9543,10500,Hyperextensibility of the knee,HPO,phenotype,PHENOTYPE_9543
9544,9544,9544,9544,9544,9544,9544,9544,6000550,Positive Bartonella henselae nucleic acid test in the blood circulation,HPO,phenotype,PHENOTYPE_9544
9545,9545,9545,9545,9545,9545,9545,9545,6000633,High-pitched bowel sounds,HPO,phenotype,PHENOTYPE_9545
9546,9546,9546,9546,9546,9546,9546,9546,4234,Bone-in-a-bone appearance of carpal bones,HPO,phenotype,PHENOTYPE_9546
9547,9547,9547,9547,9547,9547,9547,9547,100403,Duplication of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_9547
9548,9548,9548,9548,9548,9548,9548,9548,1256,"Intellectual disability, mild",HPO,phenotype,PHENOTYPE_9548
9549,9549,9549,9549,9549,9549,9549,9549,20238,Lymph-node extracapsular extension by lymph-node lymphocytes,HPO,phenotype,PHENOTYPE_9549
9550,9550,9550,9550,9550,9550,9550,9550,9953,Partial duplication of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_9550
9551,9551,9551,9551,9551,9551,9551,9551,3679,Pace of progression,HPO,phenotype,PHENOTYPE_9551
9552,9552,9552,9552,9552,9552,9552,9552,6000362,Blunted aldosterone response to aldosterone suppression test,HPO,phenotype,PHENOTYPE_9552
9553,9553,9553,9553,9553,9553,9553,9553,9215,Bracket epiphysis of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_9553
9554,9554,9554,9554,9554,9554,9554,9554,6000500,Extremities cold to touch,HPO,phenotype,PHENOTYPE_9554
9555,9555,9555,9555,9555,9555,9555,9555,8058,Aplasia/Hypoplasia of the optic nerve,HPO,phenotype,PHENOTYPE_9555
9556,9556,9556,9556,9556,9556,9556,9556,410157,Increased level of N-acetylneuraminic acid in fibroblasts,HPO,phenotype,PHENOTYPE_9556
9557,9557,9557,9557,9557,9557,9557,9557,10406,Bullet-shaped middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_9557
9558,9558,9558,9558,9558,9558,9558,9558,10536,Central sleep apnea,HPO,phenotype,PHENOTYPE_9558
9559,9559,9559,9559,9559,9559,9559,9559,2495,Impaired vibratory sensation,HPO,phenotype,PHENOTYPE_9559
9560,9560,9560,9560,9560,9560,9560,9560,25735,Abnormal third cranial nerve morphology,HPO,phenotype,PHENOTYPE_9560
9561,9561,9561,9561,9561,9561,9561,9561,5716,Lethal skeletal dysplasia,HPO,phenotype,PHENOTYPE_9561
9562,9562,9562,9562,9562,9562,9562,9562,2711,Exaggerated median tongue furrow,HPO,phenotype,PHENOTYPE_9562
9563,9563,9563,9563,9563,9563,9563,9563,34806,Vaginal foreign body sensation,HPO,phenotype,PHENOTYPE_9563
9564,9564,9564,9564,9564,9564,9564,9564,6202,Osteolysis of scaphoids,HPO,phenotype,PHENOTYPE_9564
9565,9565,9565,9565,9565,9565,9565,9565,9586,Symphalangism affecting the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_9565
9566,9566,9566,9566,9566,9566,9566,9566,25628,Increased circulating myristoleate level,HPO,phenotype,PHENOTYPE_9566
9567,9567,9567,9567,9567,9567,9567,9567,5512,Impaired neutrophil killing of staphylococci,HPO,phenotype,PHENOTYPE_9567
9568,9568,9568,9568,9568,9568,9568,9568,12681,Abnormal pineal morphology,HPO,phenotype,PHENOTYPE_9568
9569,9569,9569,9569,9569,9569,9569,9569,33540,Reversible airflow obstruction,HPO,phenotype,PHENOTYPE_9569
9570,9570,9570,9570,9570,9570,9570,9570,327,Hypoplasia of the maxilla,HPO,phenotype,PHENOTYPE_9570
9571,9571,9571,9571,9571,9571,9571,9571,35026,Elevated circulating C6 acylcarnitine concentration,HPO,phenotype,PHENOTYPE_9571
9572,9572,9572,9572,9572,9572,9572,9572,3288,Mitochondrial propionyl-CoA carboxylase defect,HPO,phenotype,PHENOTYPE_9572
9573,9573,9573,9573,9573,9573,9573,9573,4442,Sagittal craniosynostosis,HPO,phenotype,PHENOTYPE_9573
9574,9574,9574,9574,9574,9574,9574,9574,3037,Enlarged joints,HPO,phenotype,PHENOTYPE_9574
9575,9575,9575,9575,9575,9575,9575,9575,4013,Medially fused radial epiphyseal plates,HPO,phenotype,PHENOTYPE_9575
9576,9576,9576,9576,9576,9576,9576,9576,8794,Dysplastic iliac wing,HPO,phenotype,PHENOTYPE_9576
9577,9577,9577,9577,9577,9577,9577,9577,6000050,Ameliorated by flexion,HPO,phenotype,PHENOTYPE_9577
9578,9578,9578,9578,9578,9578,9578,9578,12664,Reduced left ventricular ejection fraction,HPO,phenotype,PHENOTYPE_9578
9579,9579,9579,9579,9579,9579,9579,9579,11997,Postprandial hyperlactemia,HPO,phenotype,PHENOTYPE_9579
9580,9580,9580,9580,9580,9580,9580,9580,34966,Thymic cyst,HPO,phenotype,PHENOTYPE_9580
9581,9581,9581,9581,9581,9581,9581,9581,9770,Curved phalanges of the hand,HPO,phenotype,PHENOTYPE_9581
9582,9582,9582,9582,9582,9582,9582,9582,30925,5-minute APGAR score of 5,HPO,phenotype,PHENOTYPE_9582
9583,9583,9583,9583,9583,9583,9583,9583,6000752,Elevated erythrocyte AICA-ribotide concentration,HPO,phenotype,PHENOTYPE_9583
9584,9584,9584,9584,9584,9584,9584,9584,30609,Photoreceptor layer loss on macular OCT,HPO,phenotype,PHENOTYPE_9584
9585,9585,9585,9585,9585,9585,9585,9585,8855,Moderate postnatal growth retardation,HPO,phenotype,PHENOTYPE_9585
9586,9586,9586,9586,9586,9586,9586,9586,2877,Nocturnal hypoventilation,HPO,phenotype,PHENOTYPE_9586
9587,9587,9587,9587,9587,9587,9587,9587,6000843,Nonexudative conjunctivitis,HPO,phenotype,PHENOTYPE_9587
9588,9588,9588,9588,9588,9588,9588,9588,10908,Abnormal circulating lysine concentration,HPO,phenotype,PHENOTYPE_9588
9589,9589,9589,9589,9589,9589,9589,9589,2625,Deep venous thrombosis,HPO,phenotype,PHENOTYPE_9589
9590,9590,9590,9590,9590,9590,9590,9590,11407,Proportionate tall stature,HPO,phenotype,PHENOTYPE_9590
9591,9591,9591,9591,9591,9591,9591,9591,11679,Tetralogy of Fallot with pulmonary stenosis,HPO,phenotype,PHENOTYPE_9591
9592,9592,9592,9592,9592,9592,9592,9592,31879,Abnormal eyelid physiology,HPO,phenotype,PHENOTYPE_9592
9593,9593,9593,9593,9593,9593,9593,9593,11257,Serpiginous crus of helix,HPO,phenotype,PHENOTYPE_9593
9594,9594,9594,9594,9594,9594,9594,9594,34746,Sertoli cell hyperplasia,HPO,phenotype,PHENOTYPE_9594
9595,9595,9595,9595,9595,9595,9595,9595,6112,Expanded phalanges with widened medullary cavities,HPO,phenotype,PHENOTYPE_9595
9596,9596,9596,9596,9596,9596,9596,9596,34020,Anti-HLA-A IgG1 antibody positivity,HPO,phenotype,PHENOTYPE_9596
9597,9597,9597,9597,9597,9597,9597,9597,31448,Herpetiform vesicles,HPO,phenotype,PHENOTYPE_9597
9598,9598,9598,9598,9598,9598,9598,9598,30737,Altman type I sacrococcygeal teratoma,HPO,phenotype,PHENOTYPE_9598
9599,9599,9599,9599,9599,9599,9599,9599,4000130,Ameliorated by colchicine,HPO,phenotype,PHENOTYPE_9599
9600,9600,9600,9600,9600,9600,9600,9600,30216,Inertia,HPO,phenotype,PHENOTYPE_9600
9601,9601,9601,9601,9601,9601,9601,9601,30989,Lymphoid cholangitis,HPO,phenotype,PHENOTYPE_9601
9602,9602,9602,9602,9602,9602,9602,9602,12301,Type II transferrin isoform profile,HPO,phenotype,PHENOTYPE_9602
9603,9603,9603,9603,9603,9603,9603,9603,4000198,Reduced acetylglucosamine-6-sulfatase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_9603
9604,9604,9604,9604,9604,9604,9604,9604,9836,Broad distal phalanx of finger,HPO,phenotype,PHENOTYPE_9604
9605,9605,9605,9605,9605,9605,9605,9605,11428,Short fetal femur length,HPO,phenotype,PHENOTYPE_9605
9606,9606,9606,9606,9606,9606,9606,9606,6000594,Maxillary cyst,HPO,phenotype,PHENOTYPE_9606
9607,9607,9607,9607,9607,9607,9607,9607,5291,Inflammatory arteriopathy,HPO,phenotype,PHENOTYPE_9607
9608,9608,9608,9608,9608,9608,9608,9608,25514,Morning glory anomaly,HPO,phenotype,PHENOTYPE_9608
9609,9609,9609,9609,9609,9609,9609,9609,11461,Fetal onset,HPO,phenotype,PHENOTYPE_9609
9610,9610,9610,9610,9610,9610,9610,9610,12798,Pulmonary lymphangiomyomatosis,HPO,phenotype,PHENOTYPE_9610
9611,9611,9611,9611,9611,9611,9611,9611,7525,"Yellow subcutaneous tissue covered by thin, scaly skin",HPO,phenotype,PHENOTYPE_9611
9612,9612,9612,9612,9612,9612,9612,9612,6060,Tombstone-shaped proximal phalanges,HPO,phenotype,PHENOTYPE_9612
9613,9613,9613,9613,9613,9613,9613,9613,33214,Recurrent viral pneumonia,HPO,phenotype,PHENOTYPE_9613
9614,9614,9614,9614,9614,9614,9614,9614,7534,Congenital posterior occipital alopecia,HPO,phenotype,PHENOTYPE_9614
9615,9615,9615,9615,9615,9615,9615,9615,446,Narrow nasal bridge,HPO,phenotype,PHENOTYPE_9615
9616,9616,9616,9616,9616,9616,9616,9616,34105,Anti-transcription intermediary factor-1gamma antibody positivity,HPO,phenotype,PHENOTYPE_9616
9617,9617,9617,9617,9617,9617,9617,9617,33485,Glomerular basement membrane disruption,HPO,phenotype,PHENOTYPE_9617
9618,9618,9618,9618,9618,9618,9618,9618,11961,Non-obstructive azoospermia,HPO,phenotype,PHENOTYPE_9618
9619,9619,9619,9619,9619,9619,9619,9619,410244,Abnormal circulating IgD concentration,HPO,phenotype,PHENOTYPE_9619
9620,9620,9620,9620,9620,9620,9620,9620,9324,Enlarged epiphysis of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_9620
9621,9621,9621,9621,9621,9621,9621,9621,10008,Duplication of the middle phalanx of hand,HPO,phenotype,PHENOTYPE_9621
9622,9622,9622,9622,9622,9622,9622,9622,32840,Neonatal bilateral symmetric epileptic spasm,HPO,phenotype,PHENOTYPE_9622
9623,9623,9623,9623,9623,9623,9623,9623,6562,Viral hepatitis,HPO,phenotype,PHENOTYPE_9623
9624,9624,9624,9624,9624,9624,9624,9624,30027,Abnormal nasal cartilage morphology,HPO,phenotype,PHENOTYPE_9624
9625,9625,9625,9625,9625,9625,9625,9625,32338,Oligoclonal elevated circulating IgE concentration,HPO,phenotype,PHENOTYPE_9625
9626,9626,9626,9626,9626,9626,9626,9626,12005,Deja vu aura,HPO,phenotype,PHENOTYPE_9626
9627,9627,9627,9627,9627,9627,9627,9627,33938,Renal arteriole intima/media necrosis,HPO,phenotype,PHENOTYPE_9627
9628,9628,9628,9628,9628,9628,9628,9628,5248,Intrahepatic biliary atresia,HPO,phenotype,PHENOTYPE_9628
9629,9629,9629,9629,9629,9629,9629,9629,34748,CSF mycobacteria,HPO,phenotype,PHENOTYPE_9629
9630,9630,9630,9630,9630,9630,9630,9630,430010,Microblepharia,HPO,phenotype,PHENOTYPE_9630
9631,9631,9631,9631,9631,9631,9631,9631,6001090,Conjunctival subepithelial fibrosis,HPO,phenotype,PHENOTYPE_9631
9632,9632,9632,9632,9632,9632,9632,9632,10834,Trophic changes related to pain,HPO,phenotype,PHENOTYPE_9632
9633,9633,9633,9633,9633,9633,9633,9633,5117,Elevated diastolic blood pressure,HPO,phenotype,PHENOTYPE_9633
9634,9634,9634,9634,9634,9634,9634,9634,3510,Severe short stature,HPO,phenotype,PHENOTYPE_9634
9635,9635,9635,9635,9635,9635,9635,9635,30379,Abnormal proportion of transitional B cells,HPO,phenotype,PHENOTYPE_9635
9636,9636,9636,9636,9636,9636,9636,9636,31532,Focal sub-RPE deposits,HPO,phenotype,PHENOTYPE_9636
9637,9637,9637,9637,9637,9637,9637,9637,7886,Absent extraocular muscles,HPO,phenotype,PHENOTYPE_9637
9638,9638,9638,9638,9638,9638,9638,9638,904,Flaring of rib cage,HPO,phenotype,PHENOTYPE_9638
9639,9639,9639,9639,9639,9639,9639,9639,3000018,Abnormality of zygomaticus major muscle,HPO,phenotype,PHENOTYPE_9639
9640,9640,9640,9640,9640,9640,9640,9640,12684,Abnormal pineal volume,HPO,phenotype,PHENOTYPE_9640
9641,9641,9641,9641,9641,9641,9641,9641,20243,Floral-pattern lymph node follicles,HPO,phenotype,PHENOTYPE_9641
9642,9642,9642,9642,9642,9642,9642,9642,4000121,"Triggered by poison ivy, poson oak, or sumac",HPO,phenotype,PHENOTYPE_9642
9643,9643,9643,9643,9643,9643,9643,9643,8684,Aplasia/hypoplasia of the uterus,HPO,phenotype,PHENOTYPE_9643
9644,9644,9644,9644,9644,9644,9644,9644,9383,Bracket epiphyses of the 5th finger,HPO,phenotype,PHENOTYPE_9644
9645,9645,9645,9645,9645,9645,9645,9645,100090,Abnormality of the epiphysis of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_9645
9646,9646,9646,9646,9646,9646,9646,9646,200023,Priapism,HPO,phenotype,PHENOTYPE_9646
9647,9647,9647,9647,9647,9647,9647,9647,3915,Lytic defects of the humeral metaphysis,HPO,phenotype,PHENOTYPE_9647
9648,9648,9648,9648,9648,9648,9648,9648,33714,Multiple meningiomas,HPO,phenotype,PHENOTYPE_9648
9649,9649,9649,9649,9649,9649,9649,9649,6001142,Pain at the anterior aspect of the elbow,HPO,phenotype,PHENOTYPE_9649
9650,9650,9650,9650,9650,9650,9650,9650,32120,Abnormal peripheral nervous system physiology,HPO,phenotype,PHENOTYPE_9650
9651,9651,9651,9651,9651,9651,9651,9651,4036,Long styloid process of ulna,HPO,phenotype,PHENOTYPE_9651
9652,9652,9652,9652,9652,9652,9652,9652,2297,Red hair,HPO,phenotype,PHENOTYPE_9652
9653,9653,9653,9653,9653,9653,9653,9653,32557,History of bone marrow transplant,HPO,phenotype,PHENOTYPE_9653
9654,9654,9654,9654,9654,9654,9654,9654,4975,Erlenmeyer flask deformity of the femurs,HPO,phenotype,PHENOTYPE_9654
9655,9655,9655,9655,9655,9655,9655,9655,6531,Pleural lymphangiectasia,HPO,phenotype,PHENOTYPE_9655
9656,9656,9656,9656,9656,9656,9656,9656,40178,Increased level of platelet-activating factor,HPO,phenotype,PHENOTYPE_9656
9657,9657,9657,9657,9657,9657,9657,9657,1836,Camptodactyly of toe,HPO,phenotype,PHENOTYPE_9657
9658,9658,9658,9658,9658,9658,9658,9658,6001044,Dyschronometria,HPO,phenotype,PHENOTYPE_9658
9659,9659,9659,9659,9659,9659,9659,9659,32405,Increased urinary phosphoserine level,HPO,phenotype,PHENOTYPE_9659
9660,9660,9660,9660,9660,9660,9660,9660,32983,Atoll sign,HPO,phenotype,PHENOTYPE_9660
9661,9661,9661,9661,9661,9661,9661,9661,33522,Cerebral cavernous malformation,HPO,phenotype,PHENOTYPE_9661
9662,9662,9662,9662,9662,9662,9662,9662,3138,Increased blood urea nitrogen,HPO,phenotype,PHENOTYPE_9662
9663,9663,9663,9663,9663,9663,9663,9663,40088,Abnormal lymphocyte count,HPO,phenotype,PHENOTYPE_9663
9664,9664,9664,9664,9664,9664,9664,9664,31458,Adenoiditis,HPO,phenotype,PHENOTYPE_9664
9665,9665,9665,9665,9665,9665,9665,9665,32148,Episodic pain,HPO,phenotype,PHENOTYPE_9665
9666,9666,9666,9666,9666,9666,9666,9666,25122,Sawtooth acanthosis,HPO,phenotype,PHENOTYPE_9666
9667,9667,9667,9667,9667,9667,9667,9667,2301,Hemiplegia,HPO,phenotype,PHENOTYPE_9667
9668,9668,9668,9668,9668,9668,9668,9668,100790,Hernia,HPO,phenotype,PHENOTYPE_9668
9669,9669,9669,9669,9669,9669,9669,9669,30612,Abnormal retinal morphology on macular OCT,HPO,phenotype,PHENOTYPE_9669
9670,9670,9670,9670,9670,9670,9670,9670,6358,Shovel-shaped maxillary central incisors,HPO,phenotype,PHENOTYPE_9670
9671,9671,9671,9671,9671,9671,9671,9671,5312,Pulmonary aterial intimal fibrosis,HPO,phenotype,PHENOTYPE_9671
9672,9672,9672,9672,9672,9672,9672,9672,100630,Neoplasia of the nasopharynx,HPO,phenotype,PHENOTYPE_9672
9673,9673,9673,9673,9673,9673,9673,9673,30644,Blind-spot enlargement,HPO,phenotype,PHENOTYPE_9673
9674,9674,9674,9674,9674,9674,9674,9674,30453,Abnormal visual electrophysiology,HPO,phenotype,PHENOTYPE_9674
9675,9675,9675,9675,9675,9675,9675,9675,10879,Postnatal cystic hygroma,HPO,phenotype,PHENOTYPE_9675
9676,9676,9676,9676,9676,9676,9676,9676,410156,Increased level of N-acetylneuraminic acid in urine,HPO,phenotype,PHENOTYPE_9676
9677,9677,9677,9677,9677,9677,9677,9677,9169,Broad middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_9677
9678,9678,9678,9678,9678,9678,9678,9678,40184,Oral bleeding,HPO,phenotype,PHENOTYPE_9678
9679,9679,9679,9679,9679,9679,9679,9679,3785,Decreased CSF homovanillic acid concentration,HPO,phenotype,PHENOTYPE_9679
9680,9680,9680,9680,9680,9680,9680,9680,32574,Elevated urinary uridine level,HPO,phenotype,PHENOTYPE_9680
9681,9681,9681,9681,9681,9681,9681,9681,12705,Abnormal metabolic brain imaging by MRS,HPO,phenotype,PHENOTYPE_9681
9682,9682,9682,9682,9682,9682,9682,9682,5359,Aplasia of the thymus,HPO,phenotype,PHENOTYPE_9682
9683,9683,9683,9683,9683,9683,9683,9683,33627,Increased urine harderoporphyrin level,HPO,phenotype,PHENOTYPE_9683
9684,9684,9684,9684,9684,9684,9684,9684,100442,Bullet-shaped distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_9684
9685,9685,9685,9685,9685,9685,9685,9685,2273,Tetraparesis,HPO,phenotype,PHENOTYPE_9685
9686,9686,9686,9686,9686,9686,9686,9686,1974,Leukocytosis,HPO,phenotype,PHENOTYPE_9686
9687,9687,9687,9687,9687,9687,9687,9687,32769,Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration,HPO,phenotype,PHENOTYPE_9687
9688,9688,9688,9688,9688,9688,9688,9688,5873,Polysyndactyly of hallux,HPO,phenotype,PHENOTYPE_9688
9689,9689,9689,9689,9689,9689,9689,9689,5709,2-3 toe cutaneous syndactyly,HPO,phenotype,PHENOTYPE_9689
9690,9690,9690,9690,9690,9690,9690,9690,12322,Perifolliculitis,HPO,phenotype,PHENOTYPE_9690
9691,9691,9691,9691,9691,9691,9691,9691,32448,Achlorhydria,HPO,phenotype,PHENOTYPE_9691
9692,9692,9692,9692,9692,9692,9692,9692,33879,Abnormal arcuate vein intima/media morphology,HPO,phenotype,PHENOTYPE_9692
9693,9693,9693,9693,9693,9693,9693,9693,2645,Wormian bones,HPO,phenotype,PHENOTYPE_9693
9694,9694,9694,9694,9694,9694,9694,9694,5507,Hemoglobin Barts,HPO,phenotype,PHENOTYPE_9694
9695,9695,9695,9695,9695,9695,9695,9695,33046,Michaelis-Gutmann bodies,HPO,phenotype,PHENOTYPE_9695
9696,9696,9696,9696,9696,9696,9696,9696,32543,Lithoptysis,HPO,phenotype,PHENOTYPE_9696
9697,9697,9697,9697,9697,9697,9697,9697,8619,Bilateral sensorineural hearing impairment,HPO,phenotype,PHENOTYPE_9697
9698,9698,9698,9698,9698,9698,9698,9698,25723,Abnormal fetal skin morphology,HPO,phenotype,PHENOTYPE_9698
9699,9699,9699,9699,9699,9699,9699,9699,32423,Decreased HDL2b concentration,HPO,phenotype,PHENOTYPE_9699
9700,9700,9700,9700,9700,9700,9700,9700,41178,Fractured distal phalanx of manual digit 4,HPO,phenotype,PHENOTYPE_9700
9701,9701,9701,9701,9701,9701,9701,9701,7396,Early cutaneous photosensitivity,HPO,phenotype,PHENOTYPE_9701
9702,9702,9702,9702,9702,9702,9702,9702,34265,Mastalgia,HPO,phenotype,PHENOTYPE_9702
9703,9703,9703,9703,9703,9703,9703,9703,10296,Ankyloglossia,HPO,phenotype,PHENOTYPE_9703
9704,9704,9704,9704,9704,9704,9704,9704,25014,Subcutaneous spheroids,HPO,phenotype,PHENOTYPE_9704
9705,9705,9705,9705,9705,9705,9705,9705,9811,Abnormality of the elbow,HPO,phenotype,PHENOTYPE_9705
9706,9706,9706,9706,9706,9706,9706,9706,25530,Xanthomas of the palmar creases,HPO,phenotype,PHENOTYPE_9706
9707,9707,9707,9707,9707,9707,9707,9707,6001159,Pulsatile mass in extremity,HPO,phenotype,PHENOTYPE_9707
9708,9708,9708,9708,9708,9708,9708,9708,20255,Abnormal lymph-node germinal center morphology,HPO,phenotype,PHENOTYPE_9708
9709,9709,9709,9709,9709,9709,9709,9709,32296,Increased circulating IgG subclass,HPO,phenotype,PHENOTYPE_9709
9710,9710,9710,9710,9710,9710,9710,9710,33405,Abnormal circulating organic amino compound concentration,HPO,phenotype,PHENOTYPE_9710
9711,9711,9711,9711,9711,9711,9711,9711,9186,Contracture of the metacarpophalangeal joint of the 5th finger,HPO,phenotype,PHENOTYPE_9711
9712,9712,9712,9712,9712,9712,9712,9712,188,Short upper lip,HPO,phenotype,PHENOTYPE_9712
9713,9713,9713,9713,9713,9713,9713,9713,12058,Nodular melanoma,HPO,phenotype,PHENOTYPE_9713
9714,9714,9714,9714,9714,9714,9714,9714,30221,Sweet craving,HPO,phenotype,PHENOTYPE_9714
9715,9715,9715,9715,9715,9715,9715,9715,11598,Right aortic arch with retroesophageal left subclavian artery,HPO,phenotype,PHENOTYPE_9715
9716,9716,9716,9716,9716,9716,9716,9716,100761,Visceral angiomatosis,HPO,phenotype,PHENOTYPE_9716
9717,9717,9717,9717,9717,9717,9717,9717,5201002,Microform unilateral cleft lip,HPO,phenotype,PHENOTYPE_9717
9718,9718,9718,9718,9718,9718,9718,9718,31556,Reduced granulocyte CD16 level,HPO,phenotype,PHENOTYPE_9718
9719,9719,9719,9719,9719,9719,9719,9719,1049,Absent dorsal skin creases over affected joints,HPO,phenotype,PHENOTYPE_9719
9720,9720,9720,9720,9720,9720,9720,9720,6000520,Increased circulating inhibin B concentration,HPO,phenotype,PHENOTYPE_9720
9721,9721,9721,9721,9721,9721,9721,9721,32209,Abnormal circulating free T3 concentration,HPO,phenotype,PHENOTYPE_9721
9722,9722,9722,9722,9722,9722,9722,9722,61,"Ambiguous genitalia, female",HPO,phenotype,PHENOTYPE_9722
9723,9723,9723,9723,9723,9723,9723,9723,10852,EEG with photoparoxysmal response,HPO,phenotype,PHENOTYPE_9723
9724,9724,9724,9724,9724,9724,9724,9724,10819,Atonic seizure,HPO,phenotype,PHENOTYPE_9724
9725,9725,9725,9725,9725,9725,9725,9725,500148,Abnormal circulating glutamate concentration,HPO,phenotype,PHENOTYPE_9725
9726,9726,9726,9726,9726,9726,9726,9726,100252,Diaphyseal dysplasia,HPO,phenotype,PHENOTYPE_9726
9727,9727,9727,9727,9727,9727,9727,9727,5877,Multiple small vertebral fractures,HPO,phenotype,PHENOTYPE_9727
9728,9728,9728,9728,9728,9728,9728,9728,6000958,Excessive piloerection,HPO,phenotype,PHENOTYPE_9728
9729,9729,9729,9729,9729,9729,9729,9729,500203,Increased CSF arginine concentration,HPO,phenotype,PHENOTYPE_9729
9730,9730,9730,9730,9730,9730,9730,9730,8116,Flexion limitation of toes,HPO,phenotype,PHENOTYPE_9730
9731,9731,9731,9731,9731,9731,9731,9731,6000140,Lateral thrust,HPO,phenotype,PHENOTYPE_9731
9732,9732,9732,9732,9732,9732,9732,9732,33289,Glomerular basement membrane wrinkling,HPO,phenotype,PHENOTYPE_9732
9733,9733,9733,9733,9733,9733,9733,9733,25151,Ganglioneuromatosis,HPO,phenotype,PHENOTYPE_9733
9734,9734,9734,9734,9734,9734,9734,9734,410056,Decreased CSF erythritol concentration,HPO,phenotype,PHENOTYPE_9734
9735,9735,9735,9735,9735,9735,9735,9735,31602,Abnormal mucociliary clearance,HPO,phenotype,PHENOTYPE_9735
9736,9736,9736,9736,9736,9736,9736,9736,8749,Laryngeal hypoplasia,HPO,phenotype,PHENOTYPE_9736
9737,9737,9737,9737,9737,9737,9737,9737,4353,Abnormal circulating pyrimidine concentration,HPO,phenotype,PHENOTYPE_9737
9738,9738,9738,9738,9738,9738,9738,9738,3019,Abnormality of the wrist,HPO,phenotype,PHENOTYPE_9738
9739,9739,9739,9739,9739,9739,9739,9739,282,Facial edema,HPO,phenotype,PHENOTYPE_9739
9740,9740,9740,9740,9740,9740,9740,9740,34274,Gastrointestinal ulcer,HPO,phenotype,PHENOTYPE_9740
9741,9741,9741,9741,9741,9741,9741,9741,6716,Hereditary nonpolyposis colorectal carcinoma,HPO,phenotype,PHENOTYPE_9741
9742,9742,9742,9742,9742,9742,9742,9742,1090,Abnormally large globe,HPO,phenotype,PHENOTYPE_9742
9743,9743,9743,9743,9743,9743,9743,9743,9740,Aplasia of the parotid gland,HPO,phenotype,PHENOTYPE_9743
9744,9744,9744,9744,9744,9744,9744,9744,11710,Bundle branch block,HPO,phenotype,PHENOTYPE_9744
9745,9745,9745,9745,9745,9745,9745,9745,2012,Abnormality of the abdominal organs,HPO,phenotype,PHENOTYPE_9745
9746,9746,9746,9746,9746,9746,9746,9746,974,Hyperextensible skin,HPO,phenotype,PHENOTYPE_9746
9747,9747,9747,9747,9747,9747,9747,9747,2064,Spastic gait,HPO,phenotype,PHENOTYPE_9747
9748,9748,9748,9748,9748,9748,9748,9748,1838,Rocker bottom foot,HPO,phenotype,PHENOTYPE_9748
9749,9749,9749,9749,9749,9749,9749,9749,6882,Severe hydrocephalus,HPO,phenotype,PHENOTYPE_9749
9750,9750,9750,9750,9750,9750,9750,9750,10025,Triangular epiphysis of the 1st metacarpal,HPO,phenotype,PHENOTYPE_9750
9751,9751,9751,9751,9751,9751,9751,9751,30585,Red desaturation,HPO,phenotype,PHENOTYPE_9751
9752,9752,9752,9752,9752,9752,9752,9752,6000813,Elevated circulating aspartate aminotransferase to alanine aminotransferase ratio,HPO,phenotype,PHENOTYPE_9752
9753,9753,9753,9753,9753,9753,9753,9753,5238,Discrete intestinal polyps,HPO,phenotype,PHENOTYPE_9753
9754,9754,9754,9754,9754,9754,9754,9754,410227,Increased anti-food allergen IgE antibody level,HPO,phenotype,PHENOTYPE_9754
9755,9755,9755,9755,9755,9755,9755,9755,685,Hypoplasia of teeth,HPO,phenotype,PHENOTYPE_9755
9756,9756,9756,9756,9756,9756,9756,9756,6001160,Abnormal R wave,HPO,phenotype,PHENOTYPE_9756
9757,9757,9757,9757,9757,9757,9757,9757,4099,Macrodactyly,HPO,phenotype,PHENOTYPE_9757
9758,9758,9758,9758,9758,9758,9758,9758,5687,Deformed humeral heads,HPO,phenotype,PHENOTYPE_9758
9759,9759,9759,9759,9759,9759,9759,9759,8112,Plantar flexion contracture,HPO,phenotype,PHENOTYPE_9759
9760,9760,9760,9760,9760,9760,9760,9760,12599,Abnormal urine phosphate concentration,HPO,phenotype,PHENOTYPE_9760
9761,9761,9761,9761,9761,9761,9761,9761,12885,Fallopian tube duplication,HPO,phenotype,PHENOTYPE_9761
9762,9762,9762,9762,9762,9762,9762,9762,12324,Myeloid leukemia,HPO,phenotype,PHENOTYPE_9762
9763,9763,9763,9763,9763,9763,9763,9763,10503,Fibular duplication,HPO,phenotype,PHENOTYPE_9763
9764,9764,9764,9764,9764,9764,9764,9764,34727,Reduced circulating alpha-L-fucosidase activity,HPO,phenotype,PHENOTYPE_9764
9765,9765,9765,9765,9765,9765,9765,9765,30139,Excessive bleeding after a venipuncture,HPO,phenotype,PHENOTYPE_9765
9766,9766,9766,9766,9766,9766,9766,9766,12483,Abnormal alpha granules,HPO,phenotype,PHENOTYPE_9766
9767,9767,9767,9767,9767,9767,9767,9767,34419,Mitral chordae tendinae rupture,HPO,phenotype,PHENOTYPE_9767
9768,9768,9768,9768,9768,9768,9768,9768,6495,Aplasia/Hypoplasia of the ulna,HPO,phenotype,PHENOTYPE_9768
9769,9769,9769,9769,9769,9769,9769,9769,6001046,Breast cyst,HPO,phenotype,PHENOTYPE_9769
9770,9770,9770,9770,9770,9770,9770,9770,6206,Hypersegmentation of proximal phalanx of second finger,HPO,phenotype,PHENOTYPE_9770
9771,9771,9771,9771,9771,9771,9771,9771,34396,Hippocampal malrotation,HPO,phenotype,PHENOTYPE_9771
9772,9772,9772,9772,9772,9772,9772,9772,602,Ophthalmoplegia,HPO,phenotype,PHENOTYPE_9772
9773,9773,9773,9773,9773,9773,9773,9773,100953,Enlarged interhemispheric fissure,HPO,phenotype,PHENOTYPE_9773
9774,9774,9774,9774,9774,9774,9774,9774,5997,Neck joint contracture,HPO,phenotype,PHENOTYPE_9774
9775,9775,9775,9775,9775,9775,9775,9775,5295,Pseudocoarctation of the aorta,HPO,phenotype,PHENOTYPE_9775
9776,9776,9776,9776,9776,9776,9776,9776,9296,Bullet-shaped middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_9776
9777,9777,9777,9777,9777,9777,9777,9777,25349,Limbal edema,HPO,phenotype,PHENOTYPE_9777
9778,9778,9778,9778,9778,9778,9778,9778,40424,Elevated urinary guanosine level,HPO,phenotype,PHENOTYPE_9778
9779,9779,9779,9779,9779,9779,9779,9779,4602,Cervical C2/C3 vertebral fusion,HPO,phenotype,PHENOTYPE_9779
9780,9780,9780,9780,9780,9780,9780,9780,1377,Limited elbow extension,HPO,phenotype,PHENOTYPE_9780
9781,9781,9781,9781,9781,9781,9781,9781,34182,Segmental hypoplasia of liver,HPO,phenotype,PHENOTYPE_9781
9782,9782,9782,9782,9782,9782,9782,9782,34758,Fetal narcotic exposure,HPO,phenotype,PHENOTYPE_9782
9783,9783,9783,9783,9783,9783,9783,9783,9924,Aplasia/Hypoplasia involving the nose,HPO,phenotype,PHENOTYPE_9783
9784,9784,9784,9784,9784,9784,9784,9784,11447,Hyposegmentation of neutrophil nuclei,HPO,phenotype,PHENOTYPE_9784
9785,9785,9785,9785,9785,9785,9785,9785,7514,Edema of the dorsum of hands,HPO,phenotype,PHENOTYPE_9785
9786,9786,9786,9786,9786,9786,9786,9786,1004,Lymphedema,HPO,phenotype,PHENOTYPE_9786
9787,9787,9787,9787,9787,9787,9787,9787,7590,Aplasia cutis congenita over posterior parietal area,HPO,phenotype,PHENOTYPE_9787
9788,9788,9788,9788,9788,9788,9788,9788,1419,X-linked recessive inheritance,HPO,phenotype,PHENOTYPE_9788
9789,9789,9789,9789,9789,9789,9789,9789,11067,Mesiodens,HPO,phenotype,PHENOTYPE_9789
9790,9790,9790,9790,9790,9790,9790,9790,31610,Recurrent shoulder dislocation,HPO,phenotype,PHENOTYPE_9790
9791,9791,9791,9791,9791,9791,9791,9791,4000046,Oblique fracture,HPO,phenotype,PHENOTYPE_9791
9792,9792,9792,9792,9792,9792,9792,9792,30754,Allantoic cyst,HPO,phenotype,PHENOTYPE_9792
9793,9793,9793,9793,9793,9793,9793,9793,6719,Benign gastrointestinal tract tumors,HPO,phenotype,PHENOTYPE_9793
9794,9794,9794,9794,9794,9794,9794,9794,6000486,Elevated circulating CXCL10 concentration,HPO,phenotype,PHENOTYPE_9794
9795,9795,9795,9795,9795,9795,9795,9795,8819,Narrow femoral neck,HPO,phenotype,PHENOTYPE_9795
9796,9796,9796,9796,9796,9796,9796,9796,25717,Skeletal muscle autophagosome accumulation,HPO,phenotype,PHENOTYPE_9796
9797,9797,9797,9797,9797,9797,9797,9797,11255,Absent crus of helix,HPO,phenotype,PHENOTYPE_9797
9798,9798,9798,9798,9798,9798,9798,9798,2169,Clonus,HPO,phenotype,PHENOTYPE_9798
9799,9799,9799,9799,9799,9799,9799,9799,5017,Polyarticular chondrocalcinosis,HPO,phenotype,PHENOTYPE_9799
9800,9800,9800,9800,9800,9800,9800,9800,12639,Abnormal nervous system morphology,HPO,phenotype,PHENOTYPE_9800
9801,9801,9801,9801,9801,9801,9801,9801,100810,Pointed helix,HPO,phenotype,PHENOTYPE_9801
9802,9802,9802,9802,9802,9802,9802,9802,34381,Central nervous system axonal spheroid,HPO,phenotype,PHENOTYPE_9802
9803,9803,9803,9803,9803,9803,9803,9803,20034,Diffuse,HPO,phenotype,PHENOTYPE_9803
9804,9804,9804,9804,9804,9804,9804,9804,6001023,Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_9804
9805,9805,9805,9805,9805,9805,9805,9805,1732,Abnormality of the pancreas,HPO,phenotype,PHENOTYPE_9805
9806,9806,9806,9806,9806,9806,9806,9806,33638,Intralobular septal thickening,HPO,phenotype,PHENOTYPE_9806
9807,9807,9807,9807,9807,9807,9807,9807,34079,Anti-centromere protein B antibody positivity,HPO,phenotype,PHENOTYPE_9807
9808,9808,9808,9808,9808,9808,9808,9808,4000066,Abnormal iliac artery morphology,HPO,phenotype,PHENOTYPE_9808
9809,9809,9809,9809,9809,9809,9809,9809,9243,Patchy sclerosis of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_9809
9810,9810,9810,9810,9810,9810,9810,9810,25484,Increased circulating thyroglobulin concentration,HPO,phenotype,PHENOTYPE_9810
9811,9811,9811,9811,9811,9811,9811,9811,4421,Elevated systolic blood pressure,HPO,phenotype,PHENOTYPE_9811
9812,9812,9812,9812,9812,9812,9812,9812,1621,Weak voice,HPO,phenotype,PHENOTYPE_9812
9813,9813,9813,9813,9813,9813,9813,9813,30193,Fatigable weakness of chewing muscles,HPO,phenotype,PHENOTYPE_9813
9814,9814,9814,9814,9814,9814,9814,9814,3203,Impaired oxidative burst,HPO,phenotype,PHENOTYPE_9814
9815,9815,9815,9815,9815,9815,9815,9815,200150,Increased serum bile acid concentration during pregnancy,HPO,phenotype,PHENOTYPE_9815
9816,9816,9816,9816,9816,9816,9816,9816,34827,Triggered by levothyroxin exposure,HPO,phenotype,PHENOTYPE_9816
9817,9817,9817,9817,9817,9817,9817,9817,12866,Abnormal sperm neck morphology,HPO,phenotype,PHENOTYPE_9817
9818,9818,9818,9818,9818,9818,9818,9818,6000917,Bone marrow edema,HPO,phenotype,PHENOTYPE_9818
9819,9819,9819,9819,9819,9819,9819,9819,9331,Triangular epiphysis of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_9819
9820,9820,9820,9820,9820,9820,9820,9820,25137,Decreased serum estriol,HPO,phenotype,PHENOTYPE_9820
9821,9821,9821,9821,9821,9821,9821,9821,5206,Pancreatic pseudocyst,HPO,phenotype,PHENOTYPE_9821
9822,9822,9822,9822,9822,9822,9822,9822,9422,Broad distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_9822
9823,9823,9823,9823,9823,9823,9823,9823,500180,Abnormal circulating amino sulfonic acid concentration,HPO,phenotype,PHENOTYPE_9823
9824,9824,9824,9824,9824,9824,9824,9824,2076,Migraine,HPO,phenotype,PHENOTYPE_9824
9825,9825,9825,9825,9825,9825,9825,9825,403,Recurrent otitis media,HPO,phenotype,PHENOTYPE_9825
9826,9826,9826,9826,9826,9826,9826,9826,3940,Osteoarthritis of the elbow,HPO,phenotype,PHENOTYPE_9826
9827,9827,9827,9827,9827,9827,9827,9827,31827,Absent abdominal reflex,HPO,phenotype,PHENOTYPE_9827
9828,9828,9828,9828,9828,9828,9828,9828,11539,Atrial situs ambiguous,HPO,phenotype,PHENOTYPE_9828
9829,9829,9829,9829,9829,9829,9829,9829,6001004,Elevated urine hydroxyphenyllactic acid level,HPO,phenotype,PHENOTYPE_9829
9830,9830,9830,9830,9830,9830,9830,9830,100699,Scarring,HPO,phenotype,PHENOTYPE_9830
9831,9831,9831,9831,9831,9831,9831,9831,30993,Duplication of pancreatic duct,HPO,phenotype,PHENOTYPE_9831
9832,9832,9832,9832,9832,9832,9832,9832,11804,Abnormal muscle physiology,HPO,phenotype,PHENOTYPE_9832
9833,9833,9833,9833,9833,9833,9833,9833,100818,Long thorax,HPO,phenotype,PHENOTYPE_9833
9834,9834,9834,9834,9834,9834,9834,9834,31659,Fourth heart sound,HPO,phenotype,PHENOTYPE_9834
9835,9835,9835,9835,9835,9835,9835,9835,11836,Delayed talus ossification,HPO,phenotype,PHENOTYPE_9835
9836,9836,9836,9836,9836,9836,9836,9836,34711,Peripheral axonal distension,HPO,phenotype,PHENOTYPE_9836
9837,9837,9837,9837,9837,9837,9837,9837,12032,Lipoma,HPO,phenotype,PHENOTYPE_9837
9838,9838,9838,9838,9838,9838,9838,9838,9564,Triangular shaped distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_9838
9839,9839,9839,9839,9839,9839,9839,9839,32744,Focal aware emotional seizure with agitation,HPO,phenotype,PHENOTYPE_9839
9840,9840,9840,9840,9840,9840,9840,9840,33176,Submandibular lymph node enlargement,HPO,phenotype,PHENOTYPE_9840
9841,9841,9841,9841,9841,9841,9841,9841,2647,Aortic dissection,HPO,phenotype,PHENOTYPE_9841
9842,9842,9842,9842,9842,9842,9842,9842,34066,Anti-carbonic anhydrase VI antibody positivity,HPO,phenotype,PHENOTYPE_9842
9843,9843,9843,9843,9843,9843,9843,9843,34594,Elevated circulating dihydrothymine concentration,HPO,phenotype,PHENOTYPE_9843
9844,9844,9844,9844,9844,9844,9844,9844,11019,Abnormality of chromosome condensation,HPO,phenotype,PHENOTYPE_9844
9845,9845,9845,9845,9845,9845,9845,9845,45061,Decreased carnitine level in liver,HPO,phenotype,PHENOTYPE_9845
9846,9846,9846,9846,9846,9846,9846,9846,12190,T-cell lymphoma,HPO,phenotype,PHENOTYPE_9846
9847,9847,9847,9847,9847,9847,9847,9847,9737,Lisch nodules,HPO,phenotype,PHENOTYPE_9847
9848,9848,9848,9848,9848,9848,9848,9848,33314,Visceral epithelial cell hyperplasia,HPO,phenotype,PHENOTYPE_9848
9849,9849,9849,9849,9849,9849,9849,9849,11645,Dilatation of the sinus of Valsalva,HPO,phenotype,PHENOTYPE_9849
9850,9850,9850,9850,9850,9850,9850,9850,32960,Intratubular calcium phosphate casts,HPO,phenotype,PHENOTYPE_9850
9851,9851,9851,9851,9851,9851,9851,9851,7709,Band-shaped corneal dystrophy,HPO,phenotype,PHENOTYPE_9851
9852,9852,9852,9852,9852,9852,9852,9852,100077,Absent epiphyses of the 5th toe,HPO,phenotype,PHENOTYPE_9852
9853,9853,9853,9853,9853,9853,9853,9853,100777,Exostoses,HPO,phenotype,PHENOTYPE_9853
9854,9854,9854,9854,9854,9854,9854,9854,5866,Opposable triphalangeal thumb,HPO,phenotype,PHENOTYPE_9854
9855,9855,9855,9855,9855,9855,9855,9855,31738,Mechanical entropion,HPO,phenotype,PHENOTYPE_9855
9856,9856,9856,9856,9856,9856,9856,9856,30836,Wrist pain,HPO,phenotype,PHENOTYPE_9856
9857,9857,9857,9857,9857,9857,9857,9857,34240,Fetal neck mass,HPO,phenotype,PHENOTYPE_9857
9858,9858,9858,9858,9858,9858,9858,9858,25025,Rectovestibular fistula,HPO,phenotype,PHENOTYPE_9858
9859,9859,9859,9859,9859,9859,9859,9859,100508,Abnormality of vitamin metabolism,HPO,phenotype,PHENOTYPE_9859
9860,9860,9860,9860,9860,9860,9860,9860,500021,Reduced brain gamma-aminobutyric acid level by MRS,HPO,phenotype,PHENOTYPE_9860
9861,9861,9861,9861,9861,9861,9861,9861,30530,Arcuate scotoma,HPO,phenotype,PHENOTYPE_9861
9862,9862,9862,9862,9862,9862,9862,9862,5546,Increased red cell osmotic resistance,HPO,phenotype,PHENOTYPE_9862
9863,9863,9863,9863,9863,9863,9863,9863,12284,Small proximal tibial epiphyses,HPO,phenotype,PHENOTYPE_9863
9864,9864,9864,9864,9864,9864,9864,9864,33478,Increased circulating lipoprotein lipase concentration,HPO,phenotype,PHENOTYPE_9864
9865,9865,9865,9865,9865,9865,9865,9865,33180,Torsion of appendix of testis,HPO,phenotype,PHENOTYPE_9865
9866,9866,9866,9866,9866,9866,9866,9866,6000828,Reduced tissue peptidase D activity,HPO,phenotype,PHENOTYPE_9866
9867,9867,9867,9867,9867,9867,9867,9867,6001201,Lunotriquetral interval widening,HPO,phenotype,PHENOTYPE_9867
9868,9868,9868,9868,9868,9868,9868,9868,100839,Hepatic agenesis,HPO,phenotype,PHENOTYPE_9868
9869,9869,9869,9869,9869,9869,9869,9869,10063,Patchy sclerosis of hallux phalanx,HPO,phenotype,PHENOTYPE_9869
9870,9870,9870,9870,9870,9870,9870,9870,6286,Yellow-brown discoloration of the teeth,HPO,phenotype,PHENOTYPE_9870
9871,9871,9871,9871,9871,9871,9871,9871,6000725,Salty tasting skin,HPO,phenotype,PHENOTYPE_9871
9872,9872,9872,9872,9872,9872,9872,9872,30994,Pancreas divisum,HPO,phenotype,PHENOTYPE_9872
9873,9873,9873,9873,9873,9873,9873,9873,31398,Increased proportion of naive T cells,HPO,phenotype,PHENOTYPE_9873
9874,9874,9874,9874,9874,9874,9874,9874,33489,Glomerular endocapillary neutrophil hypercellularity,HPO,phenotype,PHENOTYPE_9874
9875,9875,9875,9875,9875,9875,9875,9875,12793,Kinked brainstem,HPO,phenotype,PHENOTYPE_9875
9876,9876,9876,9876,9876,9876,9876,9876,1194,Abnormalities of placenta or umbilical cord,HPO,phenotype,PHENOTYPE_9876
9877,9877,9877,9877,9877,9877,9877,9877,6001066,Prolonged use of tightly fitting footwear,HPO,phenotype,PHENOTYPE_9877
9878,9878,9878,9878,9878,9878,9878,9878,5000044,Anti-GluK2 antibody,HPO,phenotype,PHENOTYPE_9878
9879,9879,9879,9879,9879,9879,9879,9879,270,Delayed cranial suture closure,HPO,phenotype,PHENOTYPE_9879
9880,9880,9880,9880,9880,9880,9880,9880,6834,Developmental stagnation at onset of seizures,HPO,phenotype,PHENOTYPE_9880
9881,9881,9881,9881,9881,9881,9881,9881,100659,Abnormal cerebral vascular morphology,HPO,phenotype,PHENOTYPE_9881
9882,9882,9882,9882,9882,9882,9882,9882,4788,Intestinal lymphedema,HPO,phenotype,PHENOTYPE_9882
9883,9883,9883,9883,9883,9883,9883,9883,33451,Increased circulating prealbumin concentration,HPO,phenotype,PHENOTYPE_9883
9884,9884,9884,9884,9884,9884,9884,9884,25656,Prenatal double bubble sign,HPO,phenotype,PHENOTYPE_9884
9885,9885,9885,9885,9885,9885,9885,9885,32306,Increased circulating mannose-binding protein concentration,HPO,phenotype,PHENOTYPE_9885
9886,9886,9886,9886,9886,9886,9886,9886,6000617,Reduced tissue UDP-glucuronyl-transferase activity,HPO,phenotype,PHENOTYPE_9886
9887,9887,9887,9887,9887,9887,9887,9887,3850,Upper-limb metaphyseal irregularity,HPO,phenotype,PHENOTYPE_9887
9888,9888,9888,9888,9888,9888,9888,9888,6203,Decreased movement range in interphalangeal joints,HPO,phenotype,PHENOTYPE_9888
9889,9889,9889,9889,9889,9889,9889,9889,9412,Cone-shaped epiphyses of the 3rd finger,HPO,phenotype,PHENOTYPE_9889
9890,9890,9890,9890,9890,9890,9890,9890,12194,Episodic hemiplegia,HPO,phenotype,PHENOTYPE_9890
9891,9891,9891,9891,9891,9891,9891,9891,3126,Low-molecular-weight proteinuria,HPO,phenotype,PHENOTYPE_9891
9892,9892,9892,9892,9892,9892,9892,9892,8921,Neonatal short-limb short stature,HPO,phenotype,PHENOTYPE_9892
9893,9893,9893,9893,9893,9893,9893,9893,2718,Recurrent bacterial infections,HPO,phenotype,PHENOTYPE_9893
9894,9894,9894,9894,9894,9894,9894,9894,40409,Fluctuance on palpation,HPO,phenotype,PHENOTYPE_9894
9895,9895,9895,9895,9895,9895,9895,9895,10419,Symphalangism affecting the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_9895
9896,9896,9896,9896,9896,9896,9896,9896,2239,Gastrointestinal hemorrhage,HPO,phenotype,PHENOTYPE_9896
9897,9897,9897,9897,9897,9897,9897,9897,11986,Ectopic ossification,HPO,phenotype,PHENOTYPE_9897
9898,9898,9898,9898,9898,9898,9898,9898,10486,Abnormality of the hypothenar eminence,HPO,phenotype,PHENOTYPE_9898
9899,9899,9899,9899,9899,9899,9899,9899,31161,Reduced brain glutamate level by MRS,HPO,phenotype,PHENOTYPE_9899
9900,9900,9900,9900,9900,9900,9900,9900,1232,Nail bed telangiectasia,HPO,phenotype,PHENOTYPE_9900
9901,9901,9901,9901,9901,9901,9901,9901,6554,Acute hepatic failure,HPO,phenotype,PHENOTYPE_9901
9902,9902,9902,9902,9902,9902,9902,9902,25427,Abnormal bronchus physiology,HPO,phenotype,PHENOTYPE_9902
9903,9903,9903,9903,9903,9903,9903,9903,25424,Abnormal larynx physiology,HPO,phenotype,PHENOTYPE_9903
9904,9904,9904,9904,9904,9904,9904,9904,30738,Altman type II sacrococcygeal teratoma,HPO,phenotype,PHENOTYPE_9904
9905,9905,9905,9905,9905,9905,9905,9905,11503,Aplasia of the fovea,HPO,phenotype,PHENOTYPE_9905
9906,9906,9906,9906,9906,9906,9906,9906,6000467,Elevated urine D-lactate level,HPO,phenotype,PHENOTYPE_9906
9907,9907,9907,9907,9907,9907,9907,9907,34207,Abnormal fetal gastrointestinal system morphology,HPO,phenotype,PHENOTYPE_9907
9908,9908,9908,9908,9908,9908,9908,9908,33494,Glomerular basement membrane amyloid spicule,HPO,phenotype,PHENOTYPE_9908
9909,9909,9909,9909,9909,9909,9909,9909,11399,Tibialis anterior muscle atrophy,HPO,phenotype,PHENOTYPE_9909
9910,9910,9910,9910,9910,9910,9910,9910,6702,Coronary artery dissection,HPO,phenotype,PHENOTYPE_9910
9911,9911,9911,9911,9911,9911,9911,9911,4000189,Elevated circulating neuron-specific enolase concentration,HPO,phenotype,PHENOTYPE_9911
9912,9912,9912,9912,9912,9912,9912,9912,45054,Brachial plexus neuropathy,HPO,phenotype,PHENOTYPE_9912
9913,9913,9913,9913,9913,9913,9913,9913,10778,Tracheomegaly,HPO,phenotype,PHENOTYPE_9913
9914,9914,9914,9914,9914,9914,9914,9914,1394,Cirrhosis,HPO,phenotype,PHENOTYPE_9914
9915,9915,9915,9915,9915,9915,9915,9915,4325,Decreased body weight,HPO,phenotype,PHENOTYPE_9915
9916,9916,9916,9916,9916,9916,9916,9916,3223,Decreased circulating methylcobalamin concentration,HPO,phenotype,PHENOTYPE_9916
9917,9917,9917,9917,9917,9917,9917,9917,31269,Abnormal CD25 upregulation upon TCR activation,HPO,phenotype,PHENOTYPE_9917
9918,9918,9918,9918,9918,9918,9918,9918,30652,Vitreous haze,HPO,phenotype,PHENOTYPE_9918
9919,9919,9919,9919,9919,9919,9919,9919,45080,Decreased proportion of CD3-positive T cells,HPO,phenotype,PHENOTYPE_9919
9920,9920,9920,9920,9920,9920,9920,9920,31788,With the rule astigmatism,HPO,phenotype,PHENOTYPE_9920
9921,9921,9921,9921,9921,9921,9921,9921,4401,Meconium ileus,HPO,phenotype,PHENOTYPE_9921
9922,9922,9922,9922,9922,9922,9922,9922,12894,Paraspinal muscle hypertrophy,HPO,phenotype,PHENOTYPE_9922
9923,9923,9923,9923,9923,9923,9923,9923,5089,Abnormal metaphyseal trabeculation,HPO,phenotype,PHENOTYPE_9923
9924,9924,9924,9924,9924,9924,9924,9924,6000893,Gaucher cells,HPO,phenotype,PHENOTYPE_9924
9925,9925,9925,9925,9925,9925,9925,9925,6000458,Sulfur-containing abscess,HPO,phenotype,PHENOTYPE_9925
9926,9926,9926,9926,9926,9926,9926,9926,5656,Positional foot deformity,HPO,phenotype,PHENOTYPE_9926
9927,9927,9927,9927,9927,9927,9927,9927,31886,Abnormal LDL cholesterol concentration,HPO,phenotype,PHENOTYPE_9927
9928,9928,9928,9928,9928,9928,9928,9928,9356,Triangular epiphysis of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_9928
9929,9929,9929,9929,9929,9929,9929,9929,33479,Abnormal circulating bilirubin concentration,HPO,phenotype,PHENOTYPE_9929
9930,9930,9930,9930,9930,9930,9930,9930,5720,Shortening of all metacarpals,HPO,phenotype,PHENOTYPE_9930
9931,9931,9931,9931,9931,9931,9931,9931,11027,Abnormal fallopian tube morphology,HPO,phenotype,PHENOTYPE_9931
9932,9932,9932,9932,9932,9932,9932,9932,11017,Abnormal cellular physiology,HPO,phenotype,PHENOTYPE_9932
9933,9933,9933,9933,9933,9933,9933,9933,6009,Broad phalanx,HPO,phenotype,PHENOTYPE_9933
9934,9934,9934,9934,9934,9934,9934,9934,10211,Duplication of proximal phalanx of toe,HPO,phenotype,PHENOTYPE_9934
9935,9935,9935,9935,9935,9935,9935,9935,34643,Dermal immune complex deposition,HPO,phenotype,PHENOTYPE_9935
9936,9936,9936,9936,9936,9936,9936,9936,10557,Overlapping fingers,HPO,phenotype,PHENOTYPE_9936
9937,9937,9937,9937,9937,9937,9937,9937,9854,Curved proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_9937
9938,9938,9938,9938,9938,9938,9938,9938,30840,Ankle pain,HPO,phenotype,PHENOTYPE_9938
9939,9939,9939,9939,9939,9939,9939,9939,2766,Relatively short spine,HPO,phenotype,PHENOTYPE_9939
9940,9940,9940,9940,9940,9940,9940,9940,10937,Abnormal nasal skeleton morphology,HPO,phenotype,PHENOTYPE_9940
9941,9941,9941,9941,9941,9941,9941,9941,33393,Irregularly shaped sperm tail,HPO,phenotype,PHENOTYPE_9941
9942,9942,9942,9942,9942,9942,9942,9942,12730,Aglossia,HPO,phenotype,PHENOTYPE_9942
9943,9943,9943,9943,9943,9943,9943,9943,6209,Partial-complete absence of 5th phalanges,HPO,phenotype,PHENOTYPE_9943
9944,9944,9944,9944,9944,9944,9944,9944,1135,Chorioretinal dystrophy,HPO,phenotype,PHENOTYPE_9944
9945,9945,9945,9945,9945,9945,9945,9945,410175,Hyperketonemia,HPO,phenotype,PHENOTYPE_9945
9946,9946,9946,9946,9946,9946,9946,9946,9832,Abnormal distal phalanx morphology of finger,HPO,phenotype,PHENOTYPE_9946
9947,9947,9947,9947,9947,9947,9947,9947,34672,Knee extension contracture,HPO,phenotype,PHENOTYPE_9947
9948,9948,9948,9948,9948,9948,9948,9948,5000033,Anti-SOX1 antibody,HPO,phenotype,PHENOTYPE_9948
9949,9949,9949,9949,9949,9949,9949,9949,30687,Abnormal glucagon level,HPO,phenotype,PHENOTYPE_9949
9950,9950,9950,9950,9950,9950,9950,9950,12037,Pectoralis amyotrophy,HPO,phenotype,PHENOTYPE_9950
9951,9951,9951,9951,9951,9951,9951,9951,7497,Focal friction-related palmoplantar hyperkeratosis,HPO,phenotype,PHENOTYPE_9951
9952,9952,9952,9952,9952,9952,9952,9952,100303,Muscle fiber cytoplasmatic inclusion bodies,HPO,phenotype,PHENOTYPE_9952
9953,9953,9953,9953,9953,9953,9953,9953,20192,Pachygyria with 5-10 mm cortical thickness,HPO,phenotype,PHENOTYPE_9953
9954,9954,9954,9954,9954,9954,9954,9954,33679,Abnormal red nucleus morphology,HPO,phenotype,PHENOTYPE_9954
9955,9955,9955,9955,9955,9955,9955,9955,25308,Acute emergence over days,HPO,phenotype,PHENOTYPE_9955
9956,9956,9956,9956,9956,9956,9956,9956,5003,Aplasia/Hypoplasia of the capital femoral epiphysis,HPO,phenotype,PHENOTYPE_9956
9957,9957,9957,9957,9957,9957,9957,9957,5200136,Reduced social reciprocity with peers,HPO,phenotype,PHENOTYPE_9957
9958,9958,9958,9958,9958,9958,9958,9958,100173,Fragmentation of the epiphysis of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_9958
9959,9959,9959,9959,9959,9959,9959,9959,413,Atresia of the external auditory canal,HPO,phenotype,PHENOTYPE_9959
9960,9960,9960,9960,9960,9960,9960,9960,11307,Splayed toes,HPO,phenotype,PHENOTYPE_9960
9961,9961,9961,9961,9961,9961,9961,9961,4188,Abnormal 4th finger morphology,HPO,phenotype,PHENOTYPE_9961
9962,9962,9962,9962,9962,9962,9962,9962,10990,Abnormality of the common coagulation pathway,HPO,phenotype,PHENOTYPE_9962
9963,9963,9963,9963,9963,9963,9963,9963,410052,Increased level of allantoin in serum,HPO,phenotype,PHENOTYPE_9963
9964,9964,9964,9964,9964,9964,9964,9964,5176,Dysplastic aortic valve,HPO,phenotype,PHENOTYPE_9964
9965,9965,9965,9965,9965,9965,9965,9965,34,Hydrocele testis,HPO,phenotype,PHENOTYPE_9965
9966,9966,9966,9966,9966,9966,9966,9966,34516,Ameliorated by ketogenic diet,HPO,phenotype,PHENOTYPE_9966
9967,9967,9967,9967,9967,9967,9967,9967,4363,Abnormal circulating calcium concentration,HPO,phenotype,PHENOTYPE_9967
9968,9968,9968,9968,9968,9968,9968,9968,30095,Reduced muscle collagen VI,HPO,phenotype,PHENOTYPE_9968
9969,9969,9969,9969,9969,9969,9969,9969,4000212,Increased circulating vitamin A concentration,HPO,phenotype,PHENOTYPE_9969
9970,9970,9970,9970,9970,9970,9970,9970,6169,Decreased mobility 3rd-5th fingers,HPO,phenotype,PHENOTYPE_9970
9971,9971,9971,9971,9971,9971,9971,9971,100514,Abnormal circulating vitamin E concentration,HPO,phenotype,PHENOTYPE_9971
9972,9972,9972,9972,9972,9972,9972,9972,40137,Comedonal acne,HPO,phenotype,PHENOTYPE_9972
9973,9973,9973,9973,9973,9973,9973,9973,33365,Endogenous lipoid pneumonia,HPO,phenotype,PHENOTYPE_9973
9974,9974,9974,9974,9974,9974,9974,9974,30124,Reduced muscle fiber lamin A/C,HPO,phenotype,PHENOTYPE_9974
9975,9975,9975,9975,9975,9975,9975,9975,31905,Increased total hemolytic complement activity,HPO,phenotype,PHENOTYPE_9975
9976,9976,9976,9976,9976,9976,9976,9976,11883,Abnormal platelet granules,HPO,phenotype,PHENOTYPE_9976
9977,9977,9977,9977,9977,9977,9977,9977,30525,Moderate constriction of peripheral visual field,HPO,phenotype,PHENOTYPE_9977
9978,9978,9978,9978,9978,9978,9978,9978,10941,Aplasia of the nasal bone,HPO,phenotype,PHENOTYPE_9978
9979,9979,9979,9979,9979,9979,9979,9979,3953,Absent forearm bone,HPO,phenotype,PHENOTYPE_9979
9980,9980,9980,9980,9980,9980,9980,9980,1785,Ankle swelling,HPO,phenotype,PHENOTYPE_9980
9981,9981,9981,9981,9981,9981,9981,9981,6001196,Inability to fully extend finger at metacarpophalangeal joint,HPO,phenotype,PHENOTYPE_9981
9982,9982,9982,9982,9982,9982,9982,9982,9650,Short distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_9982
9983,9983,9983,9983,9983,9983,9983,9983,12387,Bronchitis,HPO,phenotype,PHENOTYPE_9983
9984,9984,9984,9984,9984,9984,9984,9984,2951,Partial absence of cerebellar vermis,HPO,phenotype,PHENOTYPE_9984
9985,9985,9985,9985,9985,9985,9985,9985,7695,Abnormal pupillary light reflex,HPO,phenotype,PHENOTYPE_9985
9986,9986,9986,9986,9986,9986,9986,9986,7132,Pallidal degeneration,HPO,phenotype,PHENOTYPE_9986
9987,9987,9987,9987,9987,9987,9987,9987,8494,Inferior lens subluxation,HPO,phenotype,PHENOTYPE_9987
9988,9988,9988,9988,9988,9988,9988,9988,6000491,Anti-prothrombin antibody positivity,HPO,phenotype,PHENOTYPE_9988
9989,9989,9989,9989,9989,9989,9989,9989,5872,Brachytelomesophalangy,HPO,phenotype,PHENOTYPE_9989
9990,9990,9990,9990,9990,9990,9990,9990,10000,Complete duplication of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_9990
9991,9991,9991,9991,9991,9991,9991,9991,9510,Small epiphysis of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_9991
9992,9992,9992,9992,9992,9992,9992,9992,5587,Profuse pigmented skin lesions,HPO,phenotype,PHENOTYPE_9992
9993,9993,9993,9993,9993,9993,9993,9993,31200,Hyaline casts,HPO,phenotype,PHENOTYPE_9993
9994,9994,9994,9994,9994,9994,9994,9994,25380,Increased circulating androstenedione concentration,HPO,phenotype,PHENOTYPE_9994
9995,9995,9995,9995,9995,9995,9995,9995,100344,Fibular deviation of the 2nd toe,HPO,phenotype,PHENOTYPE_9995
9996,9996,9996,9996,9996,9996,9996,9996,1385,Hip dysplasia,HPO,phenotype,PHENOTYPE_9996
9997,9997,9997,9997,9997,9997,9997,9997,410323,Drug allergy,HPO,phenotype,PHENOTYPE_9997
9998,9998,9998,9998,9998,9998,9998,9998,4150,Abnormal 3rd finger morphology,HPO,phenotype,PHENOTYPE_9998
9999,9999,9999,9999,9999,9999,9999,9999,12464,Decreased transferrin saturation,HPO,phenotype,PHENOTYPE_9999
10000,10000,10000,10000,10000,10000,10000,10000,430122,Head impulse test has corrective saccade,HPO,phenotype,PHENOTYPE_10000
10001,10001,10001,10001,10001,10001,10001,10001,33650,Pulmonary parenchymal band,HPO,phenotype,PHENOTYPE_10001
10002,10002,10002,10002,10002,10002,10002,10002,100493,Hypoammonemia,HPO,phenotype,PHENOTYPE_10002
10003,10003,10003,10003,10003,10003,10003,10003,100759,Clubbing of fingers,HPO,phenotype,PHENOTYPE_10003
10004,10004,10004,10004,10004,10004,10004,10004,25763,Positive urine anion gap,HPO,phenotype,PHENOTYPE_10004
10005,10005,10005,10005,10005,10005,10005,10005,33458,Elevated urine 4-methyl-2-oxopentanoic acid level,HPO,phenotype,PHENOTYPE_10005
10006,10006,10006,10006,10006,10006,10006,10006,5875,Increased dermatoglyphic whorls,HPO,phenotype,PHENOTYPE_10006
10007,10007,10007,10007,10007,10007,10007,10007,33245,Abnormal alveolar type II pneumocyte morphology,HPO,phenotype,PHENOTYPE_10007
10008,10008,10008,10008,10008,10008,10008,10008,9104,Aplasia/Hypoplasia of the pubic bone,HPO,phenotype,PHENOTYPE_10008
10009,10009,10009,10009,10009,10009,10009,10009,7350,Upper limb hyperreflexia,HPO,phenotype,PHENOTYPE_10009
10010,10010,10010,10010,10010,10010,10010,10010,6001188,Preauricular lymphadenopathy,HPO,phenotype,PHENOTYPE_10010
10011,10011,10011,10011,10011,10011,10011,10011,11196,EEG with focal sharp waves,HPO,phenotype,PHENOTYPE_10011
10012,10012,10012,10012,10012,10012,10012,10012,3000057,Abnormality of inferior oblique extraocular muscle,HPO,phenotype,PHENOTYPE_10012
10013,10013,10013,10013,10013,10013,10013,10013,34675,Toe joint contracture,HPO,phenotype,PHENOTYPE_10013
10014,10014,10014,10014,10014,10014,10014,10014,430034,Hypertension resistant to conventional therapy,HPO,phenotype,PHENOTYPE_10014
10015,10015,10015,10015,10015,10015,10015,10015,8984,Neck muscle hypoplasia,HPO,phenotype,PHENOTYPE_10015
10016,10016,10016,10016,10016,10016,10016,10016,34078,Anti-centromere protein A antibody positivity,HPO,phenotype,PHENOTYPE_10016
10017,10017,10017,10017,10017,10017,10017,10017,7220,Demyelinating motor neuropathy,HPO,phenotype,PHENOTYPE_10017
10018,10018,10018,10018,10018,10018,10018,10018,100749,Chest pain,HPO,phenotype,PHENOTYPE_10018
10019,10019,10019,10019,10019,10019,10019,10019,3000052,Abnormal hyoid bone morphology,HPO,phenotype,PHENOTYPE_10019
10020,10020,10020,10020,10020,10020,10020,10020,30078,Lung adenocarcinoma,HPO,phenotype,PHENOTYPE_10020
10021,10021,10021,10021,10021,10021,10021,10021,6000256,Pneumocystis cysts in respiratory secretions,HPO,phenotype,PHENOTYPE_10021
10022,10022,10022,10022,10022,10022,10022,10022,12246,Oculomotor nerve palsy,HPO,phenotype,PHENOTYPE_10022
10023,10023,10023,10023,10023,10023,10023,10023,6000794,History of wearing tightly fitted clothing,HPO,phenotype,PHENOTYPE_10023
10024,10024,10024,10024,10024,10024,10024,10024,6000547,Positive CSF enterovirus nucleic acid test,HPO,phenotype,PHENOTYPE_10024
10025,10025,10025,10025,10025,10025,10025,10025,3414,Atlantoaxial dislocation,HPO,phenotype,PHENOTYPE_10025
10026,10026,10026,10026,10026,10026,10026,10026,103,Polyuria,HPO,phenotype,PHENOTYPE_10026
10027,10027,10027,10027,10027,10027,10027,10027,6859,Posterior leukoencephalopathy,HPO,phenotype,PHENOTYPE_10027
10028,10028,10028,10028,10028,10028,10028,10028,30677,Mozart ear,HPO,phenotype,PHENOTYPE_10028
10029,10029,10029,10029,10029,10029,10029,10029,6291,Marked delay in eruption of permanent teeth,HPO,phenotype,PHENOTYPE_10029
10030,10030,10030,10030,10030,10030,10030,10030,12667,Regional left ventricular wall motion abnormality,HPO,phenotype,PHENOTYPE_10030
10031,10031,10031,10031,10031,10031,10031,10031,100341,Tibial deviation of the 4th toe,HPO,phenotype,PHENOTYPE_10031
10032,10032,10032,10032,10032,10032,10032,10032,9687,Bracket epiphyses of the thumb,HPO,phenotype,PHENOTYPE_10032
10033,10033,10033,10033,10033,10033,10033,10033,1913,Granulocytopenia,HPO,phenotype,PHENOTYPE_10033
10034,10034,10034,10034,10034,10034,10034,10034,33215,Obliterative abnormality of the renal glomerulus,HPO,phenotype,PHENOTYPE_10034
10035,10035,10035,10035,10035,10035,10035,10035,25528,Annular cutaneous lesion,HPO,phenotype,PHENOTYPE_10035
10036,10036,10036,10036,10036,10036,10036,10036,6000776,Elevated circulating 3-hydroxykynurenine concentration,HPO,phenotype,PHENOTYPE_10036
10037,10037,10037,10037,10037,10037,10037,10037,11834,Moyamoya phenomenon,HPO,phenotype,PHENOTYPE_10037
10038,10038,10038,10038,10038,10038,10038,10038,12641,Decreased intracranial pressure,HPO,phenotype,PHENOTYPE_10038
10039,10039,10039,10039,10039,10039,10039,10039,12015,EEG with frontal focal spikes,HPO,phenotype,PHENOTYPE_10039
10040,10040,10040,10040,10040,10040,10040,10040,11244,Abnormality of stem of antihelix,HPO,phenotype,PHENOTYPE_10040
10041,10041,10041,10041,10041,10041,10041,10041,5895,Radial deviation of thumb terminal phalanx,HPO,phenotype,PHENOTYPE_10041
10042,10042,10042,10042,10042,10042,10042,10042,10765,Palmar hyperkeratosis,HPO,phenotype,PHENOTYPE_10042
10043,10043,10043,10043,10043,10043,10043,10043,691,Microdontia,HPO,phenotype,PHENOTYPE_10043
10044,10044,10044,10044,10044,10044,10044,10044,10640,Abnormal nasal cavity morphology,HPO,phenotype,PHENOTYPE_10044
10045,10045,10045,10045,10045,10045,10045,10045,40023,Clinodactyly of the thumb,HPO,phenotype,PHENOTYPE_10045
10046,10046,10046,10046,10046,10046,10046,10046,11140,Gastrointestinal duplication,HPO,phenotype,PHENOTYPE_10046
10047,10047,10047,10047,10047,10047,10047,10047,11121,Abnormal skin morphology,HPO,phenotype,PHENOTYPE_10047
10048,10048,10048,10048,10048,10048,10048,10048,2090,Pneumonia,HPO,phenotype,PHENOTYPE_10048
10049,10049,10049,10049,10049,10049,10049,10049,34638,Colonic fibrinopurulent exudate,HPO,phenotype,PHENOTYPE_10049
10050,10050,10050,10050,10050,10050,10050,10050,9670,Ivory epiphysis of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_10050
10051,10051,10051,10051,10051,10051,10051,10051,100490,Camptodactyly of finger,HPO,phenotype,PHENOTYPE_10051
10052,10052,10052,10052,10052,10052,10052,10052,5416,Decreased circulating complement factor B concentration,HPO,phenotype,PHENOTYPE_10052
10053,10053,10053,10053,10053,10053,10053,10053,32725,Focal impaired awareness clonic seizure,HPO,phenotype,PHENOTYPE_10053
10054,10054,10054,10054,10054,10054,10054,10054,3893,Advanced ossification of the humeral epiphysis,HPO,phenotype,PHENOTYPE_10054
10055,10055,10055,10055,10055,10055,10055,10055,100822,Rectocele,HPO,phenotype,PHENOTYPE_10055
10056,10056,10056,10056,10056,10056,10056,10056,500215,Abnormal CSF phenylalanine concentration,HPO,phenotype,PHENOTYPE_10056
10057,10057,10057,10057,10057,10057,10057,10057,5285,Absent nasal bridge,HPO,phenotype,PHENOTYPE_10057
10058,10058,10058,10058,10058,10058,10058,10058,30467,Abnormal pattern electroretinogram,HPO,phenotype,PHENOTYPE_10058
10059,10059,10059,10059,10059,10059,10059,10059,100701,Abnormal pia mater,HPO,phenotype,PHENOTYPE_10059
10060,10060,10060,10060,10060,10060,10060,10060,25069,Concomitant strabismus,HPO,phenotype,PHENOTYPE_10060
10061,10061,10061,10061,10061,10061,10061,10061,11592,Left aortic arch with isolated subclavian artery,HPO,phenotype,PHENOTYPE_10061
10062,10062,10062,10062,10062,10062,10062,10062,30554,Best corrected visual acuity 0.1 LogMAR,HPO,phenotype,PHENOTYPE_10062
10063,10063,10063,10063,10063,10063,10063,10063,31022,Oropharyngeal squamous papilloma,HPO,phenotype,PHENOTYPE_10063
10064,10064,10064,10064,10064,10064,10064,10064,33513,Addictive cocaine use,HPO,phenotype,PHENOTYPE_10064
10065,10065,10065,10065,10065,10065,10065,10065,6371,Broad long bone diaphyses,HPO,phenotype,PHENOTYPE_10065
10066,10066,10066,10066,10066,10066,10066,10066,7874,Almond-shaped palpebral fissure,HPO,phenotype,PHENOTYPE_10066
10067,10067,10067,10067,10067,10067,10067,10067,9222,Small epiphysis of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_10067
10068,10068,10068,10068,10068,10068,10068,10068,410329,Gluten allergy,HPO,phenotype,PHENOTYPE_10068
10069,10069,10069,10069,10069,10069,10069,10069,41058,Chronic decreased circulating IgG4,HPO,phenotype,PHENOTYPE_10069
10070,10070,10070,10070,10070,10070,10070,10070,25238,Foot pain,HPO,phenotype,PHENOTYPE_10070
10071,10071,10071,10071,10071,10071,10071,10071,11406,Infancy onset short-trunk short stature,HPO,phenotype,PHENOTYPE_10071
10072,10072,10072,10072,10072,10072,10072,10072,34733,Anesthesic-triggered malignant hyperthermia,HPO,phenotype,PHENOTYPE_10072
10073,10073,10073,10073,10073,10073,10073,10073,12308,Decreased circulating complement C9 concentration,HPO,phenotype,PHENOTYPE_10073
10074,10074,10074,10074,10074,10074,10074,10074,11640,Single coronary artery origin,HPO,phenotype,PHENOTYPE_10074
10075,10075,10075,10075,10075,10075,10075,10075,31937,Tachylalia,HPO,phenotype,PHENOTYPE_10075
10076,10076,10076,10076,10076,10076,10076,10076,7559,Localized epidermolytic hyperkeratosis,HPO,phenotype,PHENOTYPE_10076
10077,10077,10077,10077,10077,10077,10077,10077,40090,Abnormal tympanic membrane morphology,HPO,phenotype,PHENOTYPE_10077
10078,10078,10078,10078,10078,10078,10078,10078,9002,Loss of truncal subcutaneous adipose tissue,HPO,phenotype,PHENOTYPE_10078
10079,10079,10079,10079,10079,10079,10079,10079,5451,Decreased cranial base ossification,HPO,phenotype,PHENOTYPE_10079
10080,10080,10080,10080,10080,10080,10080,10080,34364,Fibrofatty replacement of right ventricular myocardium,HPO,phenotype,PHENOTYPE_10080
10081,10081,10081,10081,10081,10081,10081,10081,34914,Oocyte maturation arrest,HPO,phenotype,PHENOTYPE_10081
10082,10082,10082,10082,10082,10082,10082,10082,3312,Abnormal form of the vertebral bodies,HPO,phenotype,PHENOTYPE_10082
10083,10083,10083,10083,10083,10083,10083,10083,9158,Enlarged epiphysis of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_10083
10084,10084,10084,10084,10084,10084,10084,10084,5200290,Exploding head syndrome,HPO,phenotype,PHENOTYPE_10084
10085,10085,10085,10085,10085,10085,10085,10085,30668,Periorbital dermoid cyst,HPO,phenotype,PHENOTYPE_10085
10086,10086,10086,10086,10086,10086,10086,10086,8551,Microtia,HPO,phenotype,PHENOTYPE_10086
10087,10087,10087,10087,10087,10087,10087,10087,6642,Large sternal ossification centers,HPO,phenotype,PHENOTYPE_10087
10088,10088,10088,10088,10088,10088,10088,10088,30487,Abnormal P50/N95 ratio of pattern electroretinogram,HPO,phenotype,PHENOTYPE_10088
10089,10089,10089,10089,10089,10089,10089,10089,20198,Abnormal circulating 18-hydroxycorticosterone level,HPO,phenotype,PHENOTYPE_10089
10090,10090,10090,10090,10090,10090,10090,10090,8857,Neonatal short-trunk short stature,HPO,phenotype,PHENOTYPE_10090
10091,10091,10091,10091,10091,10091,10091,10091,33,"Ambiguous genitalia, male",HPO,phenotype,PHENOTYPE_10091
10092,10092,10092,10092,10092,10092,10092,10092,31998,Late inspiratory crackles,HPO,phenotype,PHENOTYPE_10092
10093,10093,10093,10093,10093,10093,10093,10093,10676,Mechanical ileus,HPO,phenotype,PHENOTYPE_10093
10094,10094,10094,10094,10094,10094,10094,10094,20077,Carnitinuria,HPO,phenotype,PHENOTYPE_10094
10095,10095,10095,10095,10095,10095,10095,10095,100480,Proximal/middle symphalangism of 3rd toe,HPO,phenotype,PHENOTYPE_10095
10096,10096,10096,10096,10096,10096,10096,10096,9838,Curved distal phalanges of the hand,HPO,phenotype,PHENOTYPE_10096
10097,10097,10097,10097,10097,10097,10097,10097,9927,Aplasia of the nose,HPO,phenotype,PHENOTYPE_10097
10098,10098,10098,10098,10098,10098,10098,10098,9822,Aplasia involving forearm bones,HPO,phenotype,PHENOTYPE_10098
10099,10099,10099,10099,10099,10099,10099,10099,3074,Hyperglycemia,HPO,phenotype,PHENOTYPE_10099
10100,10100,10100,10100,10100,10100,10100,10100,32014,Dysmetric vertical saccades,HPO,phenotype,PHENOTYPE_10100
10101,10101,10101,10101,10101,10101,10101,10101,410151,Eosinophilic infiltration of the esophagus,HPO,phenotype,PHENOTYPE_10101
10102,10102,10102,10102,10102,10102,10102,10102,3368,Abnormal femoral head morphology,HPO,phenotype,PHENOTYPE_10102
10103,10103,10103,10103,10103,10103,10103,10103,31745,Superior rectus muscle overaction,HPO,phenotype,PHENOTYPE_10103
10104,10104,10104,10104,10104,10104,10104,10104,34538,Ameliorated by thiamine,HPO,phenotype,PHENOTYPE_10104
10105,10105,10105,10105,10105,10105,10105,10105,7372,Atrophy/Degeneration involving the corticospinal tracts,HPO,phenotype,PHENOTYPE_10105
10106,10106,10106,10106,10106,10106,10106,10106,8734,Decreased testicular size,HPO,phenotype,PHENOTYPE_10106
10107,10107,10107,10107,10107,10107,10107,10107,34090,Anti-RuvBL1/2 antibody positivity,HPO,phenotype,PHENOTYPE_10107
10108,10108,10108,10108,10108,10108,10108,10108,6035,Cone-shaped epiphyses of phalanges 2 to 5,HPO,phenotype,PHENOTYPE_10108
10109,10109,10109,10109,10109,10109,10109,10109,1769,Broad foot,HPO,phenotype,PHENOTYPE_10109
10110,10110,10110,10110,10110,10110,10110,10110,4293,Synostosis of second metacarpal-trapezoid,HPO,phenotype,PHENOTYPE_10110
10111,10111,10111,10111,10111,10111,10111,10111,471,Gastrointestinal angiodysplasia,HPO,phenotype,PHENOTYPE_10111
10112,10112,10112,10112,10112,10112,10112,10112,34121,Anti-GD1a antibody positivity,HPO,phenotype,PHENOTYPE_10112
10113,10113,10113,10113,10113,10113,10113,10113,30463,Asymmetrical distribution of flash visual evoked potentials,HPO,phenotype,PHENOTYPE_10113
10114,10114,10114,10114,10114,10114,10114,10114,8559,Hypoplastic superior helix,HPO,phenotype,PHENOTYPE_10114
10115,10115,10115,10115,10115,10115,10115,10115,137,Abnormality of the ovary,HPO,phenotype,PHENOTYPE_10115
10116,10116,10116,10116,10116,10116,10116,10116,3000066,Abnormal lacrimal sac morphology,HPO,phenotype,PHENOTYPE_10116
10117,10117,10117,10117,10117,10117,10117,10117,20221,Clonic seizure,HPO,phenotype,PHENOTYPE_10117
10118,10118,10118,10118,10118,10118,10118,10118,32790,Focal impaired awareness behavior arrest seizure,HPO,phenotype,PHENOTYPE_10118
10119,10119,10119,10119,10119,10119,10119,10119,6000784,Maternal household cat exposure,HPO,phenotype,PHENOTYPE_10119
10120,10120,10120,10120,10120,10120,10120,10120,31849,Sleep-wake inversion,HPO,phenotype,PHENOTYPE_10120
10121,10121,10121,10121,10121,10121,10121,10121,430050,Anti-thyroid antibody positivity,HPO,phenotype,PHENOTYPE_10121
10122,10122,10122,10122,10122,10122,10122,10122,6000830,Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_10122
10123,10123,10123,10123,10123,10123,10123,10123,1723,Restrictive cardiomyopathy,HPO,phenotype,PHENOTYPE_10123
10124,10124,10124,10124,10124,10124,10124,10124,11686,Abnormal coronary artery course,HPO,phenotype,PHENOTYPE_10124
10125,10125,10125,10125,10125,10125,10125,10125,41247,Fractured tarsal bone,HPO,phenotype,PHENOTYPE_10125
10126,10126,10126,10126,10126,10126,10126,10126,6771,Duodenal adenocarcinoma,HPO,phenotype,PHENOTYPE_10126
10127,10127,10127,10127,10127,10127,10127,10127,12584,Bilateral renal hypoplasia,HPO,phenotype,PHENOTYPE_10127
10128,10128,10128,10128,10128,10128,10128,10128,9705,Synostosis involving the 2nd metacarpal,HPO,phenotype,PHENOTYPE_10128
10129,10129,10129,10129,10129,10129,10129,10129,9509,Pseudoepiphysis of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_10129
10130,10130,10130,10130,10130,10130,10130,10130,30804,Trachyonychia,HPO,phenotype,PHENOTYPE_10130
10131,10131,10131,10131,10131,10131,10131,10131,2298,Absent hair,HPO,phenotype,PHENOTYPE_10131
10132,10132,10132,10132,10132,10132,10132,10132,9718,Subependymal giant-cell astrocytoma,HPO,phenotype,PHENOTYPE_10132
10133,10133,10133,10133,10133,10133,10133,10133,6000097,Spontaneous lens capsule rupture,HPO,phenotype,PHENOTYPE_10133
10134,10134,10134,10134,10134,10134,10134,10134,6000819,Elevated circulating beta-glucuronidase activity,HPO,phenotype,PHENOTYPE_10134
10135,10135,10135,10135,10135,10135,10135,10135,6000800,Tzanck smear with multinucleated giant cells,HPO,phenotype,PHENOTYPE_10135
10136,10136,10136,10136,10136,10136,10136,10136,5563,Decreased numbers of nephrons,HPO,phenotype,PHENOTYPE_10136
10137,10137,10137,10137,10137,10137,10137,10137,2521,Hypsarrhythmia,HPO,phenotype,PHENOTYPE_10137
10138,10138,10138,10138,10138,10138,10138,10138,6000524,Abnormal urinary bile acid level,HPO,phenotype,PHENOTYPE_10138
10139,10139,10139,10139,10139,10139,10139,10139,31347,Uterine arteriovenous malformation,HPO,phenotype,PHENOTYPE_10139
10140,10140,10140,10140,10140,10140,10140,10140,100739,Bulimia,HPO,phenotype,PHENOTYPE_10140
10141,10141,10141,10141,10141,10141,10141,10141,34520,Esophageal myenteric plexus degeneration,HPO,phenotype,PHENOTYPE_10141
10142,10142,10142,10142,10142,10142,10142,10142,40120,Abnormality of the reflex of the tensor tympani muscle,HPO,phenotype,PHENOTYPE_10142
10143,10143,10143,10143,10143,10143,10143,10143,5200071,Delayed Echolalia,HPO,phenotype,PHENOTYPE_10143
10144,10144,10144,10144,10144,10144,10144,10144,25165,Clumping of elastic fibers in the dermis,HPO,phenotype,PHENOTYPE_10144
10145,10145,10145,10145,10145,10145,10145,10145,32088,Aortic smooth muscle cell disorganization,HPO,phenotype,PHENOTYPE_10145
10146,10146,10146,10146,10146,10146,10146,10146,8760,Violent behavior,HPO,phenotype,PHENOTYPE_10146
10147,10147,10147,10147,10147,10147,10147,10147,11455,Absent malleus,HPO,phenotype,PHENOTYPE_10147
10148,10148,10148,10148,10148,10148,10148,10148,25146,Foveal degeneration,HPO,phenotype,PHENOTYPE_10148
10149,10149,10149,10149,10149,10149,10149,10149,6001056,Out-toeing,HPO,phenotype,PHENOTYPE_10149
10150,10150,10150,10150,10150,10150,10150,10150,9920,Nevus of Ota,HPO,phenotype,PHENOTYPE_10150
10151,10151,10151,10151,10151,10151,10151,10151,2579,Gastrointestinal dysmotility,HPO,phenotype,PHENOTYPE_10151
10152,10152,10152,10152,10152,10152,10152,10152,12655,Elevated CSF dopamine concentration,HPO,phenotype,PHENOTYPE_10152
10153,10153,10153,10153,10153,10153,10153,10153,4817,Drug-sensitive hemolytic anemia,HPO,phenotype,PHENOTYPE_10153
10154,10154,10154,10154,10154,10154,10154,10154,12393,Allergy,HPO,phenotype,PHENOTYPE_10154
10155,10155,10155,10155,10155,10155,10155,10155,9105,Abnormal ossification of the pubic bone,HPO,phenotype,PHENOTYPE_10155
10156,10156,10156,10156,10156,10156,10156,10156,6000543,Positive mycobacterium CSF culture,HPO,phenotype,PHENOTYPE_10156
10157,10157,10157,10157,10157,10157,10157,10157,500173,Reflex asystolic syncope,HPO,phenotype,PHENOTYPE_10157
10158,10158,10158,10158,10158,10158,10158,10158,100291,Delayed somatosensory central conduction time,HPO,phenotype,PHENOTYPE_10158
10159,10159,10159,10159,10159,10159,10159,10159,4000032,False perception of self-motion,HPO,phenotype,PHENOTYPE_10159
10160,10160,10160,10160,10160,10160,10160,10160,35030,Elevated circulating carnitine concentration,HPO,phenotype,PHENOTYPE_10160
10161,10161,10161,10161,10161,10161,10161,10161,25446,Anomalous insertion of papillary muscle directly into anterior mitral leaflet,HPO,phenotype,PHENOTYPE_10161
10162,10162,10162,10162,10162,10162,10162,10162,10245,Abnormality of the epiphyses of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_10162
10163,10163,10163,10163,10163,10163,10163,10163,7392,Excessive wrinkled skin,HPO,phenotype,PHENOTYPE_10163
10164,10164,10164,10164,10164,10164,10164,10164,30131,Abnormal von Willebrand factor multimer distribution,HPO,phenotype,PHENOTYPE_10164
10165,10165,10165,10165,10165,10165,10165,10165,5177,Premature arteriosclerosis,HPO,phenotype,PHENOTYPE_10165
10166,10166,10166,10166,10166,10166,10166,10166,6000047,Chest pain triggered by palpation,HPO,phenotype,PHENOTYPE_10166
10167,10167,10167,10167,10167,10167,10167,10167,7260,Type II lissencephaly,HPO,phenotype,PHENOTYPE_10167
10168,10168,10168,10168,10168,10168,10168,10168,32570,Pontine ischemic lacunes,HPO,phenotype,PHENOTYPE_10168
10169,10169,10169,10169,10169,10169,10169,10169,32375,Duffy Fyb positivity,HPO,phenotype,PHENOTYPE_10169
10170,10170,10170,10170,10170,10170,10170,10170,32611,Renal tubular epithelial cell hemosiderin,HPO,phenotype,PHENOTYPE_10170
10171,10171,10171,10171,10171,10171,10171,10171,7769,Peripheral retinal degeneration,HPO,phenotype,PHENOTYPE_10171
10172,10172,10172,10172,10172,10172,10172,10172,10824,Abnormal fifth cranial nerve morphology,HPO,phenotype,PHENOTYPE_10172
10173,10173,10173,10173,10173,10173,10173,10173,8798,Widened greater sciatic notch,HPO,phenotype,PHENOTYPE_10173
10174,10174,10174,10174,10174,10174,10174,10174,33229,Brachioradialis areflexia,HPO,phenotype,PHENOTYPE_10174
10175,10175,10175,10175,10175,10175,10175,10175,33972,Interlobular vein medial atrophy,HPO,phenotype,PHENOTYPE_10175
10176,10176,10176,10176,10176,10176,10176,10176,12096,Intracranial epidermoid cyst,HPO,phenotype,PHENOTYPE_10176
10177,10177,10177,10177,10177,10177,10177,10177,100869,Palmar telangiectasia,HPO,phenotype,PHENOTYPE_10177
10178,10178,10178,10178,10178,10178,10178,10178,6407,Irregular distal femoral epiphysis,HPO,phenotype,PHENOTYPE_10178
10179,10179,10179,10179,10179,10179,10179,10179,500150,Hypoglutamatemia,HPO,phenotype,PHENOTYPE_10179
10180,10180,10180,10180,10180,10180,10180,10180,33474,10-minute APGAR score of 6,HPO,phenotype,PHENOTYPE_10180
10181,10181,10181,10181,10181,10181,10181,10181,100099,Abnormality of the epiphysis of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_10181
10182,10182,10182,10182,10182,10182,10182,10182,6000645,Anti-vinculin antibody positivity,HPO,phenotype,PHENOTYPE_10182
10183,10183,10183,10183,10183,10183,10183,10183,3546,Exercise intolerance,HPO,phenotype,PHENOTYPE_10183
10184,10184,10184,10184,10184,10184,10184,10184,25281,Sharp,HPO,phenotype,PHENOTYPE_10184
10185,10185,10185,10185,10185,10185,10185,10185,9189,Fragmentation of the metacarpal epiphyses,HPO,phenotype,PHENOTYPE_10185
10186,10186,10186,10186,10186,10186,10186,10186,5700,Increased bone density with cystic changes,HPO,phenotype,PHENOTYPE_10186
10187,10187,10187,10187,10187,10187,10187,10187,897,Rachitic rosary,HPO,phenotype,PHENOTYPE_10187
10188,10188,10188,10188,10188,10188,10188,10188,33693,Phantosmia,HPO,phenotype,PHENOTYPE_10188
10189,10189,10189,10189,10189,10189,10189,10189,277,Abnormal mandible morphology,HPO,phenotype,PHENOTYPE_10189
10190,10190,10190,10190,10190,10190,10190,10190,32433,Decreased HDL3c concentration,HPO,phenotype,PHENOTYPE_10190
10191,10191,10191,10191,10191,10191,10191,10191,9727,Achromatic retinal patches,HPO,phenotype,PHENOTYPE_10191
10192,10192,10192,10192,10192,10192,10192,10192,410173,Increased circulating troponin I concentration,HPO,phenotype,PHENOTYPE_10192
10193,10193,10193,10193,10193,10193,10193,10193,10983,Oligogenic inheritance,HPO,phenotype,PHENOTYPE_10193
10194,10194,10194,10194,10194,10194,10194,10194,41080,Abnormal proportion of exhausted T cells,HPO,phenotype,PHENOTYPE_10194
10195,10195,10195,10195,10195,10195,10195,10195,11062,Misalignment of incisors,HPO,phenotype,PHENOTYPE_10195
10196,10196,10196,10196,10196,10196,10196,10196,4991,Rhizomelic arm shortening,HPO,phenotype,PHENOTYPE_10196
10197,10197,10197,10197,10197,10197,10197,10197,30374,Decreased proportion of memory B cells,HPO,phenotype,PHENOTYPE_10197
10198,10198,10198,10198,10198,10198,10198,10198,25728,Periventricular pseudocyst,HPO,phenotype,PHENOTYPE_10198
10199,10199,10199,10199,10199,10199,10199,10199,60,Clitoral hypoplasia,HPO,phenotype,PHENOTYPE_10199
10200,10200,10200,10200,10200,10200,10200,10200,33007,Architectural distortion of the lung,HPO,phenotype,PHENOTYPE_10200
10201,10201,10201,10201,10201,10201,10201,10201,34873,Decreased circulating epinephrine concentration,HPO,phenotype,PHENOTYPE_10201
10202,10202,10202,10202,10202,10202,10202,10202,6001010,Inability to protrude lips,HPO,phenotype,PHENOTYPE_10202
10203,10203,10203,10203,10203,10203,10203,10203,4754,Permanent atrial fibrillation,HPO,phenotype,PHENOTYPE_10203
10204,10204,10204,10204,10204,10204,10204,10204,33140,Blake's pouch cyst,HPO,phenotype,PHENOTYPE_10204
10205,10205,10205,10205,10205,10205,10205,10205,410216,Abnormal blood 5-methyltetrahydrofolate level,HPO,phenotype,PHENOTYPE_10205
10206,10206,10206,10206,10206,10206,10206,10206,25605,Lid lag on downgaze,HPO,phenotype,PHENOTYPE_10206
10207,10207,10207,10207,10207,10207,10207,10207,30823,Scleral thickening,HPO,phenotype,PHENOTYPE_10207
10208,10208,10208,10208,10208,10208,10208,10208,25194,Morgagni diaphragmatic hernia,HPO,phenotype,PHENOTYPE_10208
10209,10209,10209,10209,10209,10209,10209,10209,2110,Bronchiectasis,HPO,phenotype,PHENOTYPE_10209
10210,10210,10210,10210,10210,10210,10210,10210,3989,Notched ulna,HPO,phenotype,PHENOTYPE_10210
10211,10211,10211,10211,10211,10211,10211,10211,10065,Triangular shaped phalanges of the hallux,HPO,phenotype,PHENOTYPE_10211
10212,10212,10212,10212,10212,10212,10212,10212,100853,Hypoplastic areola,HPO,phenotype,PHENOTYPE_10212
10213,10213,10213,10213,10213,10213,10213,10213,6000365,Brown pigmentation of the conjunctiva,HPO,phenotype,PHENOTYPE_10213
10214,10214,10214,10214,10214,10214,10214,10214,6000076,Renal vasculitis,HPO,phenotype,PHENOTYPE_10214
10215,10215,10215,10215,10215,10215,10215,10215,7734,Enlarged lacrimal glands,HPO,phenotype,PHENOTYPE_10215
10216,10216,10216,10216,10216,10216,10216,10216,1970,Tubulointerstitial nephritis,HPO,phenotype,PHENOTYPE_10216
10217,10217,10217,10217,10217,10217,10217,10217,7411,Hypoplastic-absent sebaceous glands,HPO,phenotype,PHENOTYPE_10217
10218,10218,10218,10218,10218,10218,10218,10218,4315,Decreased circulating IgG concentration,HPO,phenotype,PHENOTYPE_10218
10219,10219,10219,10219,10219,10219,10219,10219,8438,Vertebral arch anomaly,HPO,phenotype,PHENOTYPE_10219
10220,10220,10220,10220,10220,10220,10220,10220,34693,Reduced hepatic methionine adenosyltransferase activity,HPO,phenotype,PHENOTYPE_10220
10221,10221,10221,10221,10221,10221,10221,10221,10836,Abnormal circulating copper concentration,HPO,phenotype,PHENOTYPE_10221
10222,10222,10222,10222,10222,10222,10222,10222,11798,Renal oncocytoma,HPO,phenotype,PHENOTYPE_10222
10223,10223,10223,10223,10223,10223,10223,10223,11251,Underdeveloped antitragus,HPO,phenotype,PHENOTYPE_10223
10224,10224,10224,10224,10224,10224,10224,10224,675,Macrodontia of permanent maxillary central incisor,HPO,phenotype,PHENOTYPE_10224
10225,10225,10225,10225,10225,10225,10225,10225,34187,Clavicular pseudarthrosis,HPO,phenotype,PHENOTYPE_10225
10226,10226,10226,10226,10226,10226,10226,10226,3473,Fatigable weakness,HPO,phenotype,PHENOTYPE_10226
10227,10227,10227,10227,10227,10227,10227,10227,33773,Decreased RV/TLC ratio,HPO,phenotype,PHENOTYPE_10227
10228,10228,10228,10228,10228,10228,10228,10228,11987,Ectopic ossification in muscle tissue,HPO,phenotype,PHENOTYPE_10228
10229,10229,10229,10229,10229,10229,10229,10229,12768,Neonatal asphyxia,HPO,phenotype,PHENOTYPE_10229
10230,10230,10230,10230,10230,10230,10230,10230,6000614,Orbital inflammation,HPO,phenotype,PHENOTYPE_10230
10231,10231,10231,10231,10231,10231,10231,10231,4112,Midline nasal groove,HPO,phenotype,PHENOTYPE_10231
10232,10232,10232,10232,10232,10232,10232,10232,2196,Myelopathy,HPO,phenotype,PHENOTYPE_10232
10233,10233,10233,10233,10233,10233,10233,10233,33102,Monkey wrench femoral neck,HPO,phenotype,PHENOTYPE_10233
10234,10234,10234,10234,10234,10234,10234,10234,30946,Conjunctival papillae,HPO,phenotype,PHENOTYPE_10234
10235,10235,10235,10235,10235,10235,10235,10235,100345,Tibial deviation of the 2nd toe,HPO,phenotype,PHENOTYPE_10235
10236,10236,10236,10236,10236,10236,10236,10236,500238,Abnormal CSF albumin concentration,HPO,phenotype,PHENOTYPE_10236
10237,10237,10237,10237,10237,10237,10237,10237,410035,Abnormal T cell activation,HPO,phenotype,PHENOTYPE_10237
10238,10238,10238,10238,10238,10238,10238,10238,45085,Atrophy of masseter muscle,HPO,phenotype,PHENOTYPE_10238
10239,10239,10239,10239,10239,10239,10239,10239,2166,Impaired vibration sensation in the lower limbs,HPO,phenotype,PHENOTYPE_10239
10240,10240,10240,10240,10240,10240,10240,10240,4863,Compensated hemolytic anemia,HPO,phenotype,PHENOTYPE_10240
10241,10241,10241,10241,10241,10241,10241,10241,33506,Increased esterified to free carnitine ratio,HPO,phenotype,PHENOTYPE_10241
10242,10242,10242,10242,10242,10242,10242,10242,6641,Prominent floating ribs,HPO,phenotype,PHENOTYPE_10242
10243,10243,10243,10243,10243,10243,10243,10243,31155,Increased Arden ratio of electrooculogram,HPO,phenotype,PHENOTYPE_10243
10244,10244,10244,10244,10244,10244,10244,10244,32269,Lemon sign,HPO,phenotype,PHENOTYPE_10244
10245,10245,10245,10245,10245,10245,10245,10245,1436,Abnormality of the foot musculature,HPO,phenotype,PHENOTYPE_10245
10246,10246,10246,10246,10246,10246,10246,10246,6001162,Prominent V1-V2 R wave,HPO,phenotype,PHENOTYPE_10246
10247,10247,10247,10247,10247,10247,10247,10247,30126,Abnormal endometrium morphology,HPO,phenotype,PHENOTYPE_10247
10248,10248,10248,10248,10248,10248,10248,10248,32379,Polymorphous light eruption,HPO,phenotype,PHENOTYPE_10248
10249,10249,10249,10249,10249,10249,10249,10249,918,Scapular exostoses,HPO,phenotype,PHENOTYPE_10249
10250,10250,10250,10250,10250,10250,10250,10250,30931,1-minute APGAR score of 4,HPO,phenotype,PHENOTYPE_10250
10251,10251,10251,10251,10251,10251,10251,10251,10018,Enlarged epiphysis of the 1st metacarpal,HPO,phenotype,PHENOTYPE_10251
10252,10252,10252,10252,10252,10252,10252,10252,1336,Myoclonus,HPO,phenotype,PHENOTYPE_10252
10253,10253,10253,10253,10253,10253,10253,10253,2825,Caudal appendage,HPO,phenotype,PHENOTYPE_10253
10254,10254,10254,10254,10254,10254,10254,10254,7546,Linear hyperpigmentation,HPO,phenotype,PHENOTYPE_10254
10255,10255,10255,10255,10255,10255,10255,10255,9183,Joint contracture of the 5th finger,HPO,phenotype,PHENOTYPE_10255
10256,10256,10256,10256,10256,10256,10256,10256,3344,3-Methylglutaric aciduria,HPO,phenotype,PHENOTYPE_10256
10257,10257,10257,10257,10257,10257,10257,10257,25738,Ring-enhancing cerebral lesion,HPO,phenotype,PHENOTYPE_10257
10258,10258,10258,10258,10258,10258,10258,10258,30660,Furcate cord insertion,HPO,phenotype,PHENOTYPE_10258
10259,10259,10259,10259,10259,10259,10259,10259,34128,Anti-GT1a antibody positivity,HPO,phenotype,PHENOTYPE_10259
10260,10260,10260,10260,10260,10260,10260,10260,5505,Refractory anemia,HPO,phenotype,PHENOTYPE_10260
10261,10261,10261,10261,10261,10261,10261,10261,20257,Mantle zone pattern,HPO,phenotype,PHENOTYPE_10261
10262,10262,10262,10262,10262,10262,10262,10262,5289,Abnormal nasolabial region morphology,HPO,phenotype,PHENOTYPE_10262
10263,10263,10263,10263,10263,10263,10263,10263,25042,Abnormality of mesenteric lymph nodes,HPO,phenotype,PHENOTYPE_10263
10264,10264,10264,10264,10264,10264,10264,10264,6000188,Antisperm antibody positivity,HPO,phenotype,PHENOTYPE_10264
10265,10265,10265,10265,10265,10265,10265,10265,11554,Double inlet atrioventricular connection,HPO,phenotype,PHENOTYPE_10265
10266,10266,10266,10266,10266,10266,10266,10266,10730,Double eyebrow,HPO,phenotype,PHENOTYPE_10266
10267,10267,10267,10267,10267,10267,10267,10267,17,Nocturia,HPO,phenotype,PHENOTYPE_10267
10268,10268,10268,10268,10268,10268,10268,10268,100504,Decreased circulating vitamin B2 concentration,HPO,phenotype,PHENOTYPE_10268
10269,10269,10269,10269,10269,10269,10269,10269,32377,Increased urinary orosomucoid,HPO,phenotype,PHENOTYPE_10269
10270,10270,10270,10270,10270,10270,10270,10270,9769,Bullet-shaped phalanges of the hand,HPO,phenotype,PHENOTYPE_10270
10271,10271,10271,10271,10271,10271,10271,10271,25607,Upper eyelid entropion,HPO,phenotype,PHENOTYPE_10271
10272,10272,10272,10272,10272,10272,10272,10272,35012,Abnormal femoral artery morphology,HPO,phenotype,PHENOTYPE_10272
10273,10273,10273,10273,10273,10273,10273,10273,8922,Childhood-onset short-trunk short stature,HPO,phenotype,PHENOTYPE_10273
10274,10274,10274,10274,10274,10274,10274,10274,12756,CSF polymorphonuclear pleocytosis,HPO,phenotype,PHENOTYPE_10274
10275,10275,10275,10275,10275,10275,10275,10275,6179,Pseudoepiphyses of second metacarpal,HPO,phenotype,PHENOTYPE_10275
10276,10276,10276,10276,10276,10276,10276,10276,31416,Abnormal nasal mucus secretion,HPO,phenotype,PHENOTYPE_10276
10277,10277,10277,10277,10277,10277,10277,10277,11700,Automatic atrial tachycardia,HPO,phenotype,PHENOTYPE_10277
10278,10278,10278,10278,10278,10278,10278,10278,3226,Rectilinear intracellular accumulation of autofluorescent lipopigment storage material,HPO,phenotype,PHENOTYPE_10278
10279,10279,10279,10279,10279,10279,10279,10279,34639,Bloodstream microfilaria,HPO,phenotype,PHENOTYPE_10279
10280,10280,10280,10280,10280,10280,10280,10280,34822,Abnormal CSF ion concentration,HPO,phenotype,PHENOTYPE_10280
10281,10281,10281,10281,10281,10281,10281,10281,31288,Cobblestone-like hyperkeratosis,HPO,phenotype,PHENOTYPE_10281
10282,10282,10282,10282,10282,10282,10282,10282,33496,Perihilar segmental glomerulosclerosis,HPO,phenotype,PHENOTYPE_10282
10283,10283,10283,10283,10283,10283,10283,10283,6000432,Elevated urine propionic acid level,HPO,phenotype,PHENOTYPE_10283
10284,10284,10284,10284,10284,10284,10284,10284,8443,Neuropathic spinal arthropathy,HPO,phenotype,PHENOTYPE_10284
10285,10285,10285,10285,10285,10285,10285,10285,25783,Diagnostic behavioral phenotype,HPO,phenotype,PHENOTYPE_10285
10286,10286,10286,10286,10286,10286,10286,10286,11001,Increased bone mineral density,HPO,phenotype,PHENOTYPE_10286
10287,10287,10287,10287,10287,10287,10287,10287,45010,Abnormal peripheral nerve morphology by anatomical site,HPO,phenotype,PHENOTYPE_10287
10288,10288,10288,10288,10288,10288,10288,10288,30553,Visual acuity no light perception,HPO,phenotype,PHENOTYPE_10288
10289,10289,10289,10289,10289,10289,10289,10289,4000184,Reduced erythrocyte adenosine triphosphate concentration,HPO,phenotype,PHENOTYPE_10289
10290,10290,10290,10290,10290,10290,10290,10290,10955,Dilatation of the bladder,HPO,phenotype,PHENOTYPE_10290
10291,10291,10291,10291,10291,10291,10291,10291,100554,Hemihypertrophy of upper limb,HPO,phenotype,PHENOTYPE_10291
10292,10292,10292,10292,10292,10292,10292,10292,100533,Inflammatory abnormality of the eye,HPO,phenotype,PHENOTYPE_10292
10293,10293,10293,10293,10293,10293,10293,10293,32299,Increased circulating IgG2 level,HPO,phenotype,PHENOTYPE_10293
10294,10294,10294,10294,10294,10294,10294,10294,33380,Nasal chondritis,HPO,phenotype,PHENOTYPE_10294
10295,10295,10295,10295,10295,10295,10295,10295,31404,Impaired antigen-specific response,HPO,phenotype,PHENOTYPE_10295
10296,10296,10296,10296,10296,10296,10296,10296,30010,Hydrometrocolpos,HPO,phenotype,PHENOTYPE_10296
10297,10297,10297,10297,10297,10297,10297,10297,100867,Duodenal stenosis,HPO,phenotype,PHENOTYPE_10297
10298,10298,10298,10298,10298,10298,10298,10298,154,Wide mouth,HPO,phenotype,PHENOTYPE_10298
10299,10299,10299,10299,10299,10299,10299,10299,31508,Abnormal circulating thyroid hormone concentration,HPO,phenotype,PHENOTYPE_10299
10300,10300,10300,10300,10300,10300,10300,10300,5441,Sclerotic cranial sutures,HPO,phenotype,PHENOTYPE_10300
10301,10301,10301,10301,10301,10301,10301,10301,3382,Hypertrophic nerve changes,HPO,phenotype,PHENOTYPE_10301
10302,10302,10302,10302,10302,10302,10302,10302,33129,Abnormal shoulder physiology,HPO,phenotype,PHENOTYPE_10302
10303,10303,10303,10303,10303,10303,10303,10303,600,Abnormality of the pharynx,HPO,phenotype,PHENOTYPE_10303
10304,10304,10304,10304,10304,10304,10304,10304,25327,Decreased renal parenchymal thickness,HPO,phenotype,PHENOTYPE_10304
10305,10305,10305,10305,10305,10305,10305,10305,7439,Generalized keratosis follicularis,HPO,phenotype,PHENOTYPE_10305
10306,10306,10306,10306,10306,10306,10306,10306,6687,Aortic tortuosity,HPO,phenotype,PHENOTYPE_10306
10307,10307,10307,10307,10307,10307,10307,10307,1085,Papilledema,HPO,phenotype,PHENOTYPE_10307
10308,10308,10308,10308,10308,10308,10308,10308,25679,Diskitis,HPO,phenotype,PHENOTYPE_10308
10309,10309,10309,10309,10309,10309,10309,10309,32393,Diffuse ribbon-like subcortical heterotopia,HPO,phenotype,PHENOTYPE_10309
10310,10310,10310,10310,10310,10310,10310,10310,32678,Eyelid myoclonia seizure,HPO,phenotype,PHENOTYPE_10310
10311,10311,10311,10311,10311,10311,10311,10311,40143,Dystopic os odontoideum,HPO,phenotype,PHENOTYPE_10311
10312,10312,10312,10312,10312,10312,10312,10312,34992,Thumb adduction contracture,HPO,phenotype,PHENOTYPE_10312
10313,10313,10313,10313,10313,10313,10313,10313,32973,Abnormal bronchoalveolar lavage fluid morphology,HPO,phenotype,PHENOTYPE_10313
10314,10314,10314,10314,10314,10314,10314,10314,10309,Bifid sternum,HPO,phenotype,PHENOTYPE_10314
10315,10315,10315,10315,10315,10315,10315,10315,25766,Abnormal affect,HPO,phenotype,PHENOTYPE_10315
10316,10316,10316,10316,10316,10316,10316,10316,533,Chorioretinal atrophy,HPO,phenotype,PHENOTYPE_10316
10317,10317,10317,10317,10317,10317,10317,10317,100027,Recurrent pancreatitis,HPO,phenotype,PHENOTYPE_10317
10318,10318,10318,10318,10318,10318,10318,10318,31007,Orofacial action-specific dystonia induced by speech,HPO,phenotype,PHENOTYPE_10318
10319,10319,10319,10319,10319,10319,10319,10319,33573,Anti-H4 antibody positivity,HPO,phenotype,PHENOTYPE_10319
10320,10320,10320,10320,10320,10320,10320,10320,34835,Cardiac polyglucosan accumulation,HPO,phenotype,PHENOTYPE_10320
10321,10321,10321,10321,10321,10321,10321,10321,10326,Deviation of the 2nd toe,HPO,phenotype,PHENOTYPE_10321
10322,10322,10322,10322,10322,10322,10322,10322,12521,Optic nerve aplasia,HPO,phenotype,PHENOTYPE_10322
10323,10323,10323,10323,10323,10323,10323,10323,430015,Abnormal morphology of musculature of pharynx,HPO,phenotype,PHENOTYPE_10323
10324,10324,10324,10324,10324,10324,10324,10324,10606,Hordeolum,HPO,phenotype,PHENOTYPE_10324
10325,10325,10325,10325,10325,10325,10325,10325,4470,Atretic occipital cephalocele,HPO,phenotype,PHENOTYPE_10325
10326,10326,10326,10326,10326,10326,10326,10326,7413,Nevus flammeus of the forehead,HPO,phenotype,PHENOTYPE_10326
10327,10327,10327,10327,10327,10327,10327,10327,30346,Abnormal circulating follicle-stimulating hormone concentration,HPO,phenotype,PHENOTYPE_10327
10328,10328,10328,10328,10328,10328,10328,10328,33408,Elevated circulating acetoacetic acid concentration,HPO,phenotype,PHENOTYPE_10328
10329,10329,10329,10329,10329,10329,10329,10329,10222,Abnormal 3rd metacarpal epiphysis morphology,HPO,phenotype,PHENOTYPE_10329
10330,10330,10330,10330,10330,10330,10330,10330,33580,Compound motor action potential abnormality,HPO,phenotype,PHENOTYPE_10330
10331,10331,10331,10331,10331,10331,10331,10331,9220,Ivory epiphysis of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_10331
10332,10332,10332,10332,10332,10332,10332,10332,9145,Abnormal cerebral artery morphology,HPO,phenotype,PHENOTYPE_10332
10333,10333,10333,10333,10333,10333,10333,10333,32265,CSF autoimmune antibody positivity,HPO,phenotype,PHENOTYPE_10333
10334,10334,10334,10334,10334,10334,10334,10334,2134,Abnormal basal ganglia morphology,HPO,phenotype,PHENOTYPE_10334
10335,10335,10335,10335,10335,10335,10335,10335,1831,Short toe,HPO,phenotype,PHENOTYPE_10335
10336,10336,10336,10336,10336,10336,10336,10336,2679,Abnormal sella turcica morphology,HPO,phenotype,PHENOTYPE_10336
10337,10337,10337,10337,10337,10337,10337,10337,34500,Glenoid fracture,HPO,phenotype,PHENOTYPE_10337
10338,10338,10338,10338,10338,10338,10338,10338,40007,Absent pigmentation of chest,HPO,phenotype,PHENOTYPE_10338
10339,10339,10339,10339,10339,10339,10339,10339,25208,Triggered by carbohydrate ingestion,HPO,phenotype,PHENOTYPE_10339
10340,10340,10340,10340,10340,10340,10340,10340,11666,Absent right superior vena cava,HPO,phenotype,PHENOTYPE_10340
10341,10341,10341,10341,10341,10341,10341,10341,40042,Aplasia of the eccrine sweat glands,HPO,phenotype,PHENOTYPE_10341
10342,10342,10342,10342,10342,10342,10342,10342,1765,Hammertoe,HPO,phenotype,PHENOTYPE_10342
10343,10343,10343,10343,10343,10343,10343,10343,11128,Acute esophageal necrosis,HPO,phenotype,PHENOTYPE_10343
10344,10344,10344,10344,10344,10344,10344,10344,9879,Simplified gyral pattern,HPO,phenotype,PHENOTYPE_10344
10345,10345,10345,10345,10345,10345,10345,10345,25586,Hypertropia,HPO,phenotype,PHENOTYPE_10345
10346,10346,10346,10346,10346,10346,10346,10346,30953,Conjunctival hyperemia,HPO,phenotype,PHENOTYPE_10346
10347,10347,10347,10347,10347,10347,10347,10347,32690,Focal aware cognitive seizure with dyscalculia/acalculia,HPO,phenotype,PHENOTYPE_10347
10348,10348,10348,10348,10348,10348,10348,10348,32970,Traction bronchiolectasis,HPO,phenotype,PHENOTYPE_10348
10349,10349,10349,10349,10349,10349,10349,10349,100657,Thoracoabdominal eventration,HPO,phenotype,PHENOTYPE_10349
10350,10350,10350,10350,10350,10350,10350,10350,12751,Abnormal basal ganglia MRI signal intensity,HPO,phenotype,PHENOTYPE_10350
10351,10351,10351,10351,10351,10351,10351,10351,20132,Thickening of the tubular basement membrane,HPO,phenotype,PHENOTYPE_10351
10352,10352,10352,10352,10352,10352,10352,10352,500012,Abnormal gonadotropin-releasing hormone concentration,HPO,phenotype,PHENOTYPE_10352
10353,10353,10353,10353,10353,10353,10353,10353,100827,Lymphocytosis,HPO,phenotype,PHENOTYPE_10353
10354,10354,10354,10354,10354,10354,10354,10354,5086,Knee osteoarthritis,HPO,phenotype,PHENOTYPE_10354
10355,10355,10355,10355,10355,10355,10355,10355,6000965,Positive tissue coccidioidomycosis culture,HPO,phenotype,PHENOTYPE_10355
10356,10356,10356,10356,10356,10356,10356,10356,30245,Intrapartum fever,HPO,phenotype,PHENOTYPE_10356
10357,10357,10357,10357,10357,10357,10357,10357,6000384,Gastric volvulus,HPO,phenotype,PHENOTYPE_10357
10358,10358,10358,10358,10358,10358,10358,10358,33357,Limited head rotation,HPO,phenotype,PHENOTYPE_10358
10359,10359,10359,10359,10359,10359,10359,10359,30726,Spinal neurenteric cyst,HPO,phenotype,PHENOTYPE_10359
10360,10360,10360,10360,10360,10360,10360,10360,1216,Delayed ossification of carpal bones,HPO,phenotype,PHENOTYPE_10360
10361,10361,10361,10361,10361,10361,10361,10361,34589,Increased circulating dehydroepiandrosterone-sulfate concentration,HPO,phenotype,PHENOTYPE_10361
10362,10362,10362,10362,10362,10362,10362,10362,20096,Recurrent streptococcal infections,HPO,phenotype,PHENOTYPE_10362
10363,10363,10363,10363,10363,10363,10363,10363,2629,Gastrointestinal arteriovenous malformation,HPO,phenotype,PHENOTYPE_10363
10364,10364,10364,10364,10364,10364,10364,10364,100766,Abnormal lymphatic vessel morphology,HPO,phenotype,PHENOTYPE_10364
10365,10365,10365,10365,10365,10365,10365,10365,100521,Neoplasm of the thymus,HPO,phenotype,PHENOTYPE_10365
10366,10366,10366,10366,10366,10366,10366,10366,5880,Metacarpophalangeal synostosis,HPO,phenotype,PHENOTYPE_10366
10367,10367,10367,10367,10367,10367,10367,10367,11742,Ectopic adrenal gland,HPO,phenotype,PHENOTYPE_10367
10368,10368,10368,10368,10368,10368,10368,10368,3167,Carnosinuria,HPO,phenotype,PHENOTYPE_10368
10369,10369,10369,10369,10369,10369,10369,10369,25259,Stiff elbow,HPO,phenotype,PHENOTYPE_10369
10370,10370,10370,10370,10370,10370,10370,10370,33298,Abnormal circulating complement factor H related protein 1 concentration,HPO,phenotype,PHENOTYPE_10370
10371,10371,10371,10371,10371,10371,10371,10371,25529,Hyperpigmented nodule,HPO,phenotype,PHENOTYPE_10371
10372,10372,10372,10372,10372,10372,10372,10372,32534,Exacerbated by methylxanthine ingestion,HPO,phenotype,PHENOTYPE_10372
10373,10373,10373,10373,10373,10373,10373,10373,8345,Hypoplasia of the iris dilator muscle,HPO,phenotype,PHENOTYPE_10373
10374,10374,10374,10374,10374,10374,10374,10374,32813,Neonatal electro-clinical motor seizure,HPO,phenotype,PHENOTYPE_10374
10375,10375,10375,10375,10375,10375,10375,10375,6118,Shortening of all distal phalanges of the fingers,HPO,phenotype,PHENOTYPE_10375
10376,10376,10376,10376,10376,10376,10376,10376,100487,Triangular shaped distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_10376
10377,10377,10377,10377,10377,10377,10377,10377,7588,Reticular hyperpigmentation,HPO,phenotype,PHENOTYPE_10377
10378,10378,10378,10378,10378,10378,10378,10378,33409,Elevated urinary 2-hydroxybutyric acid,HPO,phenotype,PHENOTYPE_10378
10379,10379,10379,10379,10379,10379,10379,10379,6001158,Trochanteric pain,HPO,phenotype,PHENOTYPE_10379
10380,10380,10380,10380,10380,10380,10380,10380,2245,Meckel diverticulum,HPO,phenotype,PHENOTYPE_10380
10381,10381,10381,10381,10381,10381,10381,10381,603,Central scotoma,HPO,phenotype,PHENOTYPE_10381
10382,10382,10382,10382,10382,10382,10382,10382,33803,Sub-lamina densa cleavage,HPO,phenotype,PHENOTYPE_10382
10383,10383,10383,10383,10383,10383,10383,10383,25207,Triggered by dehydration,HPO,phenotype,PHENOTYPE_10383
10384,10384,10384,10384,10384,10384,10384,10384,11989,Ectopic ossification in ligament tissue,HPO,phenotype,PHENOTYPE_10384
10385,10385,10385,10385,10385,10385,10385,10385,33504,Elevated circulating fumarate concentration,HPO,phenotype,PHENOTYPE_10385
10386,10386,10386,10386,10386,10386,10386,10386,31691,Severe viral infection,HPO,phenotype,PHENOTYPE_10386
10387,10387,10387,10387,10387,10387,10387,10387,30369,Induced vaginal delivery,HPO,phenotype,PHENOTYPE_10387
10388,10388,10388,10388,10388,10388,10388,10388,30016,Dyspareunia,HPO,phenotype,PHENOTYPE_10388
10389,10389,10389,10389,10389,10389,10389,10389,4326,Cachexia,HPO,phenotype,PHENOTYPE_10389
10390,10390,10390,10390,10390,10390,10390,10390,11791,Inactivating thyroid-stimulating hormone receptor defect,HPO,phenotype,PHENOTYPE_10390
10391,10391,10391,10391,10391,10391,10391,10391,31527,Retinal edema,HPO,phenotype,PHENOTYPE_10391
10392,10392,10392,10392,10392,10392,10392,10392,30892,Deep cerebral white matter hyperintensities,HPO,phenotype,PHENOTYPE_10392
10393,10393,10393,10393,10393,10393,10393,10393,33161,Abnormal urinary purine level,HPO,phenotype,PHENOTYPE_10393
10394,10394,10394,10394,10394,10394,10394,10394,4000174,Ameliorated by potassium supplements,HPO,phenotype,PHENOTYPE_10394
10395,10395,10395,10395,10395,10395,10395,10395,32850,Focal aware cognitive seizure with expressive dysphasia/aphasia,HPO,phenotype,PHENOTYPE_10395
10396,10396,10396,10396,10396,10396,10396,10396,6163,Enlarged metacarpophalangeal joints,HPO,phenotype,PHENOTYPE_10396
10397,10397,10397,10397,10397,10397,10397,10397,33588,Labial adhesion,HPO,phenotype,PHENOTYPE_10397
10398,10398,10398,10398,10398,10398,10398,10398,25347,Decreased circulating beta-2-microglobulin level,HPO,phenotype,PHENOTYPE_10398
10399,10399,10399,10399,10399,10399,10399,10399,34943,Decreased dermal collagen,HPO,phenotype,PHENOTYPE_10399
10400,10400,10400,10400,10400,10400,10400,10400,12157,Subcortical cerebral atrophy,HPO,phenotype,PHENOTYPE_10400
10401,10401,10401,10401,10401,10401,10401,10401,34830,"Reduced hepatic fructose-1,6-phosphate aldolase activity",HPO,phenotype,PHENOTYPE_10401
10402,10402,10402,10402,10402,10402,10402,10402,40170,Abnormality of hair growth,HPO,phenotype,PHENOTYPE_10402
10403,10403,10403,10403,10403,10403,10403,10403,5200300,Abnormal movement during sleep,HPO,phenotype,PHENOTYPE_10403
10404,10404,10404,10404,10404,10404,10404,10404,40015,Increased activity of mitochondrial respiratory chain,HPO,phenotype,PHENOTYPE_10404
10405,10405,10405,10405,10405,10405,10405,10405,532,Abnormal chorioretinal morphology,HPO,phenotype,PHENOTYPE_10405
10406,10406,10406,10406,10406,10406,10406,10406,7041,Chronic lymphocytic meningitis,HPO,phenotype,PHENOTYPE_10406
10407,10407,10407,10407,10407,10407,10407,10407,11106,Hypovolemia,HPO,phenotype,PHENOTYPE_10407
10408,10408,10408,10408,10408,10408,10408,10408,9438,Absent middle phalanx of 3rd finger,HPO,phenotype,PHENOTYPE_10408
10409,10409,10409,10409,10409,10409,10409,10409,221,Furrowed tongue,HPO,phenotype,PHENOTYPE_10409
10410,10410,10410,10410,10410,10410,10410,10410,40315,Tongue edema,HPO,phenotype,PHENOTYPE_10410
10411,10411,10411,10411,10411,10411,10411,10411,11037,Decreased urine output,HPO,phenotype,PHENOTYPE_10411
10412,10412,10412,10412,10412,10412,10412,10412,11440,Alcohol-induced rhabdomyolysis,HPO,phenotype,PHENOTYPE_10412
10413,10413,10413,10413,10413,10413,10413,10413,6000620,Elevated urinary pyrroline hydroxycarboxylic acid level,HPO,phenotype,PHENOTYPE_10413
10414,10414,10414,10414,10414,10414,10414,10414,11877,Increased mean platelet volume,HPO,phenotype,PHENOTYPE_10414
10415,10415,10415,10415,10415,10415,10415,10415,25180,Centrilobular ground-glass opacification on pulmonary HRCT,HPO,phenotype,PHENOTYPE_10415
10416,10416,10416,10416,10416,10416,10416,10416,25312,Esophoria,HPO,phenotype,PHENOTYPE_10416
10417,10417,10417,10417,10417,10417,10417,10417,25328,Antepartum hemorrhage,HPO,phenotype,PHENOTYPE_10417
10418,10418,10418,10418,10418,10418,10418,10418,34622,Adrenal xanthomatosis,HPO,phenotype,PHENOTYPE_10418
10419,10419,10419,10419,10419,10419,10419,10419,34132,Anti-GM2 antibody positivity,HPO,phenotype,PHENOTYPE_10419
10420,10420,10420,10420,10420,10420,10420,10420,5957,Breathing dysregulation,HPO,phenotype,PHENOTYPE_10420
10421,10421,10421,10421,10421,10421,10421,10421,30725,Neurenteric cyst,HPO,phenotype,PHENOTYPE_10421
10422,10422,10422,10422,10422,10422,10422,10422,5831,Type B brachydactyly,HPO,phenotype,PHENOTYPE_10422
10423,10423,10423,10423,10423,10423,10423,10423,100289,Abnormality of pattern reversal visual evoked potentials,HPO,phenotype,PHENOTYPE_10423
10424,10424,10424,10424,10424,10424,10424,10424,6000156,Pancreatic atrophy,HPO,phenotype,PHENOTYPE_10424
10425,10425,10425,10425,10425,10425,10425,10425,100255,Metaphyseal dysplasia,HPO,phenotype,PHENOTYPE_10425
10426,10426,10426,10426,10426,10426,10426,10426,6001114,Elevated urinary adipic acid,HPO,phenotype,PHENOTYPE_10426
10427,10427,10427,10427,10427,10427,10427,10427,32363,Decreased circulating corticosterone level,HPO,phenotype,PHENOTYPE_10427
10428,10428,10428,10428,10428,10428,10428,10428,30505,Nummular pigmentation of the fundus,HPO,phenotype,PHENOTYPE_10428
10429,10429,10429,10429,10429,10429,10429,10429,41115,Fractured right clavicle,HPO,phenotype,PHENOTYPE_10429
10430,10430,10430,10430,10430,10430,10430,10430,34582,Abnormal lymph node cell composition,HPO,phenotype,PHENOTYPE_10430
10431,10431,10431,10431,10431,10431,10431,10431,20106,Severe giardiasis,HPO,phenotype,PHENOTYPE_10431
10432,10432,10432,10432,10432,10432,10432,10432,100807,Long fingers,HPO,phenotype,PHENOTYPE_10432
10433,10433,10433,10433,10433,10433,10433,10433,34472,Increased fecal harderoporphyrin,HPO,phenotype,PHENOTYPE_10433
10434,10434,10434,10434,10434,10434,10434,10434,6000534,Elevated urinary ureidopropionic acid level,HPO,phenotype,PHENOTYPE_10434
10435,10435,10435,10435,10435,10435,10435,10435,11309,Tapered toe,HPO,phenotype,PHENOTYPE_10435
10436,10436,10436,10436,10436,10436,10436,10436,30896,Abnormal gastrointestinal transit time,HPO,phenotype,PHENOTYPE_10436
10437,10437,10437,10437,10437,10437,10437,10437,3905,Abnormality of the humeral epiphyseal plate,HPO,phenotype,PHENOTYPE_10437
10438,10438,10438,10438,10438,10438,10438,10438,12794,Periventricular white matter hypodensities,HPO,phenotype,PHENOTYPE_10438
10439,10439,10439,10439,10439,10439,10439,10439,25470,Telogen effluvium,HPO,phenotype,PHENOTYPE_10439
10440,10440,10440,10440,10440,10440,10440,10440,32901,Focal pedal automatism seizure,HPO,phenotype,PHENOTYPE_10440
10441,10441,10441,10441,10441,10441,10441,10441,6965,Acute necrotizing encephalopathy,HPO,phenotype,PHENOTYPE_10441
10442,10442,10442,10442,10442,10442,10442,10442,100704,Cerebral visual impairment,HPO,phenotype,PHENOTYPE_10442
10443,10443,10443,10443,10443,10443,10443,10443,9320,Abnormality of the epiphyses of the 3rd finger,HPO,phenotype,PHENOTYPE_10443
10444,10444,10444,10444,10444,10444,10444,10444,2623,Overriding aorta,HPO,phenotype,PHENOTYPE_10444
10445,10445,10445,10445,10445,10445,10445,10445,1042,High axial triradius,HPO,phenotype,PHENOTYPE_10445
10446,10446,10446,10446,10446,10446,10446,10446,9721,Shagreen patch,HPO,phenotype,PHENOTYPE_10446
10447,10447,10447,10447,10447,10447,10447,10447,30231,Glycogen accumulation in muscle fiber lysosomes,HPO,phenotype,PHENOTYPE_10447
10448,10448,10448,10448,10448,10448,10448,10448,500222,Increased CSF tryptophan concentration,HPO,phenotype,PHENOTYPE_10448
10449,10449,10449,10449,10449,10449,10449,10449,114,Proximal tubulopathy,HPO,phenotype,PHENOTYPE_10449
10450,10450,10450,10450,10450,10450,10450,10450,6732,Papillary renal cell carcinoma type 2,HPO,phenotype,PHENOTYPE_10450
10451,10451,10451,10451,10451,10451,10451,10451,12113,Abnormal circulating creatine concentration,HPO,phenotype,PHENOTYPE_10451
10452,10452,10452,10452,10452,10452,10452,10452,30769,Exencephaly,HPO,phenotype,PHENOTYPE_10452
10453,10453,10453,10453,10453,10453,10453,10453,10176,Curved toe phalanx,HPO,phenotype,PHENOTYPE_10453
10454,10454,10454,10454,10454,10454,10454,10454,346,Whistling appearance,HPO,phenotype,PHENOTYPE_10454
10455,10455,10455,10455,10455,10455,10455,10455,34685,Abnormal liver enzyme activity or concentration,HPO,phenotype,PHENOTYPE_10455
10456,10456,10456,10456,10456,10456,10456,10456,1863,Toe clinodactyly,HPO,phenotype,PHENOTYPE_10456
10457,10457,10457,10457,10457,10457,10457,10457,34934,Abnormal circulating 7-dehydrocholesterol concentration,HPO,phenotype,PHENOTYPE_10457
10458,10458,10458,10458,10458,10458,10458,10458,31939,Conus terminalis arteriovenous malformation,HPO,phenotype,PHENOTYPE_10458
10459,10459,10459,10459,10459,10459,10459,10459,45001,Abnormal ossification of the trapezium,HPO,phenotype,PHENOTYPE_10459
10460,10460,10460,10460,10460,10460,10460,10460,3220,Abnormality of chromosome stability,HPO,phenotype,PHENOTYPE_10460
10461,10461,10461,10461,10461,10461,10461,10461,40234,Factor XIII subunit B deficiency,HPO,phenotype,PHENOTYPE_10461
10462,10462,10462,10462,10462,10462,10462,10462,41209,Fractured epiphysis of middle phalanx of manus,HPO,phenotype,PHENOTYPE_10462
10463,10463,10463,10463,10463,10463,10463,10463,2705,"High, narrow palate",HPO,phenotype,PHENOTYPE_10463
10464,10464,10464,10464,10464,10464,10464,10464,6400,Absent knee epiphyses,HPO,phenotype,PHENOTYPE_10464
10465,10465,10465,10465,10465,10465,10465,10465,9467,Radial deviation of the 2nd finger,HPO,phenotype,PHENOTYPE_10465
10466,10466,10466,10466,10466,10466,10466,10466,100410,Complete duplication of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_10466
10467,10467,10467,10467,10467,10467,10467,10467,500235,Abnormal CSF histidine concentration,HPO,phenotype,PHENOTYPE_10467
10468,10468,10468,10468,10468,10468,10468,10468,32191,Torn meniscus,HPO,phenotype,PHENOTYPE_10468
10469,10469,10469,10469,10469,10469,10469,10469,11082,Conical primary incisor,HPO,phenotype,PHENOTYPE_10469
10470,10470,10470,10470,10470,10470,10470,10470,25554,Yellow nodule,HPO,phenotype,PHENOTYPE_10470
10471,10471,10471,10471,10471,10471,10471,10471,4580,Anterior scalloping of vertebral bodies,HPO,phenotype,PHENOTYPE_10471
10472,10472,10472,10472,10472,10472,10472,10472,9629,Aplasia/Hypoplasia of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_10472
10473,10473,10473,10473,10473,10473,10473,10473,2408,Cerebral arteriovenous malformation,HPO,phenotype,PHENOTYPE_10473
10474,10474,10474,10474,10474,10474,10474,10474,31862,Increased heart rate variability,HPO,phenotype,PHENOTYPE_10474
10475,10475,10475,10475,10475,10475,10475,10475,33395,Antilactoferrin antibody positivity,HPO,phenotype,PHENOTYPE_10475
10476,10476,10476,10476,10476,10476,10476,10476,7207,Photosensitive tonic-clonic seizure,HPO,phenotype,PHENOTYPE_10476
10477,10477,10477,10477,10477,10477,10477,10477,100691,Abnormality of the curvature of the cornea,HPO,phenotype,PHENOTYPE_10477
10478,10478,10478,10478,10478,10478,10478,10478,11661,Anomalous origin of left pulmonary artery from ascending aorta,HPO,phenotype,PHENOTYPE_10478
10479,10479,10479,10479,10479,10479,10479,10479,100907,Sclerosis of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_10479
10480,10480,10480,10480,10480,10480,10480,10480,31523,Salivary gland oncocytoma,HPO,phenotype,PHENOTYPE_10480
10481,10481,10481,10481,10481,10481,10481,10481,500242,Increased CSF homocarnosine concentration,HPO,phenotype,PHENOTYPE_10481
10482,10482,10482,10482,10482,10482,10482,10482,30812,Enlarged tonsils,HPO,phenotype,PHENOTYPE_10482
10483,10483,10483,10483,10483,10483,10483,10483,3000051,Abnormal hyoglossus muscle morphology,HPO,phenotype,PHENOTYPE_10483
10484,10484,10484,10484,10484,10484,10484,10484,25749,Asymmetric blood pressure between limbs,HPO,phenotype,PHENOTYPE_10484
10485,10485,10485,10485,10485,10485,10485,10485,10782,Shoulder dimple,HPO,phenotype,PHENOTYPE_10485
10486,10486,10486,10486,10486,10486,10486,10486,410019,Epigastric pain,HPO,phenotype,PHENOTYPE_10486
10487,10487,10487,10487,10487,10487,10487,10487,33488,Glomerular endocapillary leukocyte hypercellularity,HPO,phenotype,PHENOTYPE_10487
10488,10488,10488,10488,10488,10488,10488,10488,33432,Opportunistic viral infection,HPO,phenotype,PHENOTYPE_10488
10489,10489,10489,10489,10489,10489,10489,10489,25641,Elevated circulating glycolate concentration,HPO,phenotype,PHENOTYPE_10489
10490,10490,10490,10490,10490,10490,10490,10490,2497,Spastic ataxia,HPO,phenotype,PHENOTYPE_10490
10491,10491,10491,10491,10491,10491,10491,10491,25161,Frequent temper tantrums,HPO,phenotype,PHENOTYPE_10491
10492,10492,10492,10492,10492,10492,10492,10492,6001195,Occupational exposure to frequent hand trauma,HPO,phenotype,PHENOTYPE_10492
10493,10493,10493,10493,10493,10493,10493,10493,7206,Hemimegalencephaly,HPO,phenotype,PHENOTYPE_10493
10494,10494,10494,10494,10494,10494,10494,10494,25724,Caseous vernix-like desquamation,HPO,phenotype,PHENOTYPE_10494
10495,10495,10495,10495,10495,10495,10495,10495,31408,Increased proportion of CD25+ mast cells,HPO,phenotype,PHENOTYPE_10495
10496,10496,10496,10496,10496,10496,10496,10496,410353,Decreased complex N-glycan level,HPO,phenotype,PHENOTYPE_10496
10497,10497,10497,10497,10497,10497,10497,10497,6001182,Corneal epithelial edema,HPO,phenotype,PHENOTYPE_10497
10498,10498,10498,10498,10498,10498,10498,10498,25115,Civatte bodies,HPO,phenotype,PHENOTYPE_10498
10499,10499,10499,10499,10499,10499,10499,10499,500223,Increased CSF phenylalanine concentration,HPO,phenotype,PHENOTYPE_10499
10500,10500,10500,10500,10500,10500,10500,10500,9787,Aplasia/Hypoplasia of the quadriceps,HPO,phenotype,PHENOTYPE_10500
10501,10501,10501,10501,10501,10501,10501,10501,642,Red-green dyschromatopsia,HPO,phenotype,PHENOTYPE_10501
10502,10502,10502,10502,10502,10502,10502,10502,3000046,Abnormal geniohyoid muscle morphology,HPO,phenotype,PHENOTYPE_10502
10503,10503,10503,10503,10503,10503,10503,10503,4000203,Reduced erythrocyte arginase activity,HPO,phenotype,PHENOTYPE_10503
10504,10504,10504,10504,10504,10504,10504,10504,32966,Centrilobular emphysema,HPO,phenotype,PHENOTYPE_10504
10505,10505,10505,10505,10505,10505,10505,10505,6000653,Crescent-shaped iliac bone,HPO,phenotype,PHENOTYPE_10505
10506,10506,10506,10506,10506,10506,10506,10506,41049,Starch intolerance,HPO,phenotype,PHENOTYPE_10506
10507,10507,10507,10507,10507,10507,10507,10507,7501,Streaks of hyperkeratosis along each finger onto the palm,HPO,phenotype,PHENOTYPE_10507
10508,10508,10508,10508,10508,10508,10508,10508,12812,Fullness of paranasal tissue,HPO,phenotype,PHENOTYPE_10508
10509,10509,10509,10509,10509,10509,10509,10509,40183,Encopresis,HPO,phenotype,PHENOTYPE_10509
10510,10510,10510,10510,10510,10510,10510,10510,10577,Absent epiphyses,HPO,phenotype,PHENOTYPE_10510
10511,10511,10511,10511,10511,10511,10511,10511,9814,Upper limb peromelia,HPO,phenotype,PHENOTYPE_10511
10512,10512,10512,10512,10512,10512,10512,10512,12185,Constrictive median neuropathy,HPO,phenotype,PHENOTYPE_10512
10513,10513,10513,10513,10513,10513,10513,10513,9494,Ivory epiphyses of the 2nd finger,HPO,phenotype,PHENOTYPE_10513
10514,10514,10514,10514,10514,10514,10514,10514,33649,Paraseptal emphysema,HPO,phenotype,PHENOTYPE_10514
10515,10515,10515,10515,10515,10515,10515,10515,8669,Abnormal spermatogenesis,HPO,phenotype,PHENOTYPE_10515
10516,10516,10516,10516,10516,10516,10516,10516,31744,Superior rectus muscle weakness,HPO,phenotype,PHENOTYPE_10516
10517,10517,10517,10517,10517,10517,10517,10517,6189,Prominent interdigital folds,HPO,phenotype,PHENOTYPE_10517
10518,10518,10518,10518,10518,10518,10518,10518,7898,Exudative retinopathy,HPO,phenotype,PHENOTYPE_10518
10519,10519,10519,10519,10519,10519,10519,10519,20139,History of recent insect bite,HPO,phenotype,PHENOTYPE_10519
10520,10520,10520,10520,10520,10520,10520,10520,7162,Diffuse demyelination of the cerebral white matter,HPO,phenotype,PHENOTYPE_10520
10521,10521,10521,10521,10521,10521,10521,10521,12893,Neck muscle hypertrophy,HPO,phenotype,PHENOTYPE_10521
10522,10522,10522,10522,10522,10522,10522,10522,430140,Positive CSF nucleic acid pathogen test,HPO,phenotype,PHENOTYPE_10522
10523,10523,10523,10523,10523,10523,10523,10523,32079,Medial degeneration,HPO,phenotype,PHENOTYPE_10523
10524,10524,10524,10524,10524,10524,10524,10524,31339,Abnormal cardiomyocyte dystrophin staining,HPO,phenotype,PHENOTYPE_10524
10525,10525,10525,10525,10525,10525,10525,10525,7326,Progressive choreoathetosis,HPO,phenotype,PHENOTYPE_10525
10526,10526,10526,10526,10526,10526,10526,10526,34289,Elevated circulating rT3/T3 ratio,HPO,phenotype,PHENOTYPE_10526
10527,10527,10527,10527,10527,10527,10527,10527,11878,Abnormal platelet membrane protein expression,HPO,phenotype,PHENOTYPE_10527
10528,10528,10528,10528,10528,10528,10528,10528,33816,Centrilobular,HPO,phenotype,PHENOTYPE_10528
10529,10529,10529,10529,10529,10529,10529,10529,12296,Slender distal phalanx of finger,HPO,phenotype,PHENOTYPE_10529
10530,10530,10530,10530,10530,10530,10530,10530,3665,Amyotrophy of the musculature of the pelvis,HPO,phenotype,PHENOTYPE_10530
10531,10531,10531,10531,10531,10531,10531,10531,8214,Decreased serum estradiol,HPO,phenotype,PHENOTYPE_10531
10532,10532,10532,10532,10532,10532,10532,10532,5200014,Exaggerated facial expression,HPO,phenotype,PHENOTYPE_10532
10533,10533,10533,10533,10533,10533,10533,10533,31770,Epicanthus palpebralis,HPO,phenotype,PHENOTYPE_10533
10534,10534,10534,10534,10534,10534,10534,10534,33996,Microvillar PAS-positive secretory granules,HPO,phenotype,PHENOTYPE_10534
10535,10535,10535,10535,10535,10535,10535,10535,6000646,Anti-annexin A5 antibody positivity,HPO,phenotype,PHENOTYPE_10535
10536,10536,10536,10536,10536,10536,10536,10536,10707,1-4 finger cutaneous syndactyly,HPO,phenotype,PHENOTYPE_10536
10537,10537,10537,10537,10537,10537,10537,10537,4724,Calcium nephrolithiasis,HPO,phenotype,PHENOTYPE_10537
10538,10538,10538,10538,10538,10538,10538,10538,8119,Deformed tarsal bones,HPO,phenotype,PHENOTYPE_10538
10539,10539,10539,10539,10539,10539,10539,10539,410177,Abnormal glucose-6-phosphate dehydrogenase level in blood,HPO,phenotype,PHENOTYPE_10539
10540,10540,10540,10540,10540,10540,10540,10540,4000164,Reduced bifunctional protein activity,HPO,phenotype,PHENOTYPE_10540
10541,10541,10541,10541,10541,10541,10541,10541,33060,Decreased circulating complement C5 concentration,HPO,phenotype,PHENOTYPE_10541
10542,10542,10542,10542,10542,10542,10542,10542,7504,Diffuse slow skin atrophy,HPO,phenotype,PHENOTYPE_10542
10543,10543,10543,10543,10543,10543,10543,10543,12022,Congenital portosystemic venous shunt,HPO,phenotype,PHENOTYPE_10543
10544,10544,10544,10544,10544,10544,10544,10544,4331,Decreased skull ossification,HPO,phenotype,PHENOTYPE_10544
10545,10545,10545,10545,10545,10545,10545,10545,30820,Hooded eyelid,HPO,phenotype,PHENOTYPE_10545
10546,10546,10546,10546,10546,10546,10546,10546,177,Abnormal upper lip morphology,HPO,phenotype,PHENOTYPE_10546
10547,10547,10547,10547,10547,10547,10547,10547,12101,Decreased serum creatinine,HPO,phenotype,PHENOTYPE_10547
10548,10548,10548,10548,10548,10548,10548,10548,9536,Short 2nd finger,HPO,phenotype,PHENOTYPE_10548
10549,10549,10549,10549,10549,10549,10549,10549,500239,Increased CSF albumin concentration,HPO,phenotype,PHENOTYPE_10549
10550,10550,10550,10550,10550,10550,10550,10550,32458,Narrowing of medullary canal,HPO,phenotype,PHENOTYPE_10550
10551,10551,10551,10551,10551,10551,10551,10551,34829,Adrenal cortical sclerosis,HPO,phenotype,PHENOTYPE_10551
10552,10552,10552,10552,10552,10552,10552,10552,5200209,Pareidolia,HPO,phenotype,PHENOTYPE_10552
10553,10553,10553,10553,10553,10553,10553,10553,6000655,Femoral neck fracture,HPO,phenotype,PHENOTYPE_10553
10554,10554,10554,10554,10554,10554,10554,10554,1474,Sclerotic scapulae,HPO,phenotype,PHENOTYPE_10554
10555,10555,10555,10555,10555,10555,10555,10555,11564,Mitral valve arcade,HPO,phenotype,PHENOTYPE_10555
10556,10556,10556,10556,10556,10556,10556,10556,31584,Tessier number 12 facial cleft,HPO,phenotype,PHENOTYPE_10556
10557,10557,10557,10557,10557,10557,10557,10557,32215,Disseminated cutaneous warts,HPO,phenotype,PHENOTYPE_10557
10558,10558,10558,10558,10558,10558,10558,10558,34725,Abnormal circulating beta-mannosidase activity,HPO,phenotype,PHENOTYPE_10558
10559,10559,10559,10559,10559,10559,10559,10559,2108,Spontaneous pneumothorax,HPO,phenotype,PHENOTYPE_10559
10560,10560,10560,10560,10560,10560,10560,10560,34894,Elevated brain polyol compounds by MRS,HPO,phenotype,PHENOTYPE_10560
10561,10561,10561,10561,10561,10561,10561,10561,25198,Inflammatory cap polyp,HPO,phenotype,PHENOTYPE_10561
10562,10562,10562,10562,10562,10562,10562,10562,30328,Decreased osteoclast count,HPO,phenotype,PHENOTYPE_10562
10563,10563,10563,10563,10563,10563,10563,10563,753,Autism with high cognitive abilities,HPO,phenotype,PHENOTYPE_10563
10564,10564,10564,10564,10564,10564,10564,10564,40208,Elevated CSF biopterin level,HPO,phenotype,PHENOTYPE_10564
10565,10565,10565,10565,10565,10565,10565,10565,2732,Lymph node hypoplasia,HPO,phenotype,PHENOTYPE_10565
10566,10566,10566,10566,10566,10566,10566,10566,3272,Abnormal hip bone morphology,HPO,phenotype,PHENOTYPE_10566
10567,10567,10567,10567,10567,10567,10567,10567,453,Choanal atresia,HPO,phenotype,PHENOTYPE_10567
10568,10568,10568,10568,10568,10568,10568,10568,6770,Clear cell renal cell carcinoma,HPO,phenotype,PHENOTYPE_10568
10569,10569,10569,10569,10569,10569,10569,10569,31219,Reduced radioactive iodine uptake,HPO,phenotype,PHENOTYPE_10569
10570,10570,10570,10570,10570,10570,10570,10570,5000023,Anti-Ma1 antibody positivity,HPO,phenotype,PHENOTYPE_10570
10571,10571,10571,10571,10571,10571,10571,10571,11043,Abnormal circulating adrenocorticotropin concentration,HPO,phenotype,PHENOTYPE_10571
10572,10572,10572,10572,10572,10572,10572,10572,31419,Reduced sex -hormone binding protein level,HPO,phenotype,PHENOTYPE_10572
10573,10573,10573,10573,10573,10573,10573,10573,5106,Abnormality of the vertebral endplates,HPO,phenotype,PHENOTYPE_10573
10574,10574,10574,10574,10574,10574,10574,10574,33209,Acinar dysplasia,HPO,phenotype,PHENOTYPE_10574
10575,10575,10575,10575,10575,10575,10575,10575,11541,Criss-cross atrioventricular valves,HPO,phenotype,PHENOTYPE_10575
10576,10576,10576,10576,10576,10576,10576,10576,10094,Complete duplication of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_10576
10577,10577,10577,10577,10577,10577,10577,10577,5000024,Anti-mGluR1 antibody,HPO,phenotype,PHENOTYPE_10577
10578,10578,10578,10578,10578,10578,10578,10578,20275,Reduced lymph node lymphocyte morphological variability,HPO,phenotype,PHENOTYPE_10578
10579,10579,10579,10579,10579,10579,10579,10579,4000206,Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_10579
10580,10580,10580,10580,10580,10580,10580,10580,5623,Absent ossification of calvaria,HPO,phenotype,PHENOTYPE_10580
10581,10581,10581,10581,10581,10581,10581,10581,33199,Increased circulating interleukin 10 concentration,HPO,phenotype,PHENOTYPE_10581
10582,10582,10582,10582,10582,10582,10582,10582,12147,Reduced quantity of Von Willebrand factor,HPO,phenotype,PHENOTYPE_10582
10583,10583,10583,10583,10583,10583,10583,10583,2868,Narrow iliac wing,HPO,phenotype,PHENOTYPE_10583
10584,10584,10584,10584,10584,10584,10584,10584,25623,Abnormal proportion of CD4+ effector memory cells,HPO,phenotype,PHENOTYPE_10584
10585,10585,10585,10585,10585,10585,10585,10585,33075,Inappropriately normal thyroid-stimulating hormone level,HPO,phenotype,PHENOTYPE_10585
10586,10586,10586,10586,10586,10586,10586,10586,33696,Pseudo-chilblain,HPO,phenotype,PHENOTYPE_10586
10587,10587,10587,10587,10587,10587,10587,10587,33839,Testicular pain,HPO,phenotype,PHENOTYPE_10587
10588,10588,10588,10588,10588,10588,10588,10588,31724,Microtropia,HPO,phenotype,PHENOTYPE_10588
10589,10589,10589,10589,10589,10589,10589,10589,100221,Small epiphysis of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_10589
10590,10590,10590,10590,10590,10590,10590,10590,25138,Abnormal serum estrone,HPO,phenotype,PHENOTYPE_10590
10591,10591,10591,10591,10591,10591,10591,10591,34403,Subcutaneous panniculitis-like T-cell lymphoma,HPO,phenotype,PHENOTYPE_10591
10592,10592,10592,10592,10592,10592,10592,10592,10266,Stippling of the epiphyses of the middle phalanges of the hand,HPO,phenotype,PHENOTYPE_10592
10593,10593,10593,10593,10593,10593,10593,10593,25445,Abnormal papillary muscle morphology,HPO,phenotype,PHENOTYPE_10593
10594,10594,10594,10594,10594,10594,10594,10594,9704,Chronic CSF lymphocytosis,HPO,phenotype,PHENOTYPE_10594
10595,10595,10595,10595,10595,10595,10595,10595,41165,Fractured maxilla,HPO,phenotype,PHENOTYPE_10595
10596,10596,10596,10596,10596,10596,10596,10596,617,Abnormality of ocular smooth pursuit,HPO,phenotype,PHENOTYPE_10596
10597,10597,10597,10597,10597,10597,10597,10597,30249,Enanthema,HPO,phenotype,PHENOTYPE_10597
10598,10598,10598,10598,10598,10598,10598,10598,31919,Juvenile type ovarian granulosa cell tumor,HPO,phenotype,PHENOTYPE_10598
10599,10599,10599,10599,10599,10599,10599,10599,128,Renal potassium wasting,HPO,phenotype,PHENOTYPE_10599
10600,10600,10600,10600,10600,10600,10600,10600,430076,Bloodstream antifungal antibody positivity,HPO,phenotype,PHENOTYPE_10600
10601,10601,10601,10601,10601,10601,10601,10601,6660,Aplastic clavicle,HPO,phenotype,PHENOTYPE_10601
10602,10602,10602,10602,10602,10602,10602,10602,12810,Wide nasal base,HPO,phenotype,PHENOTYPE_10602
10603,10603,10603,10603,10603,10603,10603,10603,7082,Dilated third ventricle,HPO,phenotype,PHENOTYPE_10603
10604,10604,10604,10604,10604,10604,10604,10604,7728,Congenital miosis,HPO,phenotype,PHENOTYPE_10604
10605,10605,10605,10605,10605,10605,10605,10605,100520,Oliguria,HPO,phenotype,PHENOTYPE_10605
10606,10606,10606,10606,10606,10606,10606,10606,30983,Ovarian thecoma,HPO,phenotype,PHENOTYPE_10606
10607,10607,10607,10607,10607,10607,10607,10607,2472,Small cerebral cortex,HPO,phenotype,PHENOTYPE_10607
10608,10608,10608,10608,10608,10608,10608,10608,34562,Malignant rhabdoid tumor of muscle,HPO,phenotype,PHENOTYPE_10608
10609,10609,10609,10609,10609,10609,10609,10609,31505,Abnormal circulating T4 concentration,HPO,phenotype,PHENOTYPE_10609
10610,10610,10610,10610,10610,10610,10610,10610,12356,Decreased mannosylation of N-linked protein glycosylation,HPO,phenotype,PHENOTYPE_10610
10611,10611,10611,10611,10611,10611,10611,10611,32373,Duffy blood group,HPO,phenotype,PHENOTYPE_10611
10612,10612,10612,10612,10612,10612,10612,10612,32475,6-layered lissencephaly,HPO,phenotype,PHENOTYPE_10612
10613,10613,10613,10613,10613,10613,10613,10613,31948,Snowball lesion of corpus callosum,HPO,phenotype,PHENOTYPE_10613
10614,10614,10614,10614,10614,10614,10614,10614,426,Prominent nasal bridge,HPO,phenotype,PHENOTYPE_10614
10615,10615,10615,10615,10615,10615,10615,10615,32869,Focal non-convulsive status epilepticus without impairment of consciousness,HPO,phenotype,PHENOTYPE_10615
10616,10616,10616,10616,10616,10616,10616,10616,31864,Bacteremia,HPO,phenotype,PHENOTYPE_10616
10617,10617,10617,10617,10617,10617,10617,10617,100262,Synostosis involving digits,HPO,phenotype,PHENOTYPE_10617
10618,10618,10618,10618,10618,10618,10618,10618,2540,Inability to walk,HPO,phenotype,PHENOTYPE_10618
10619,10619,10619,10619,10619,10619,10619,10619,11185,EEG with focal epileptiform discharges,HPO,phenotype,PHENOTYPE_10619
10620,10620,10620,10620,10620,10620,10620,10620,32013,Hypermetric horizontal saccades,HPO,phenotype,PHENOTYPE_10620
10621,10621,10621,10621,10621,10621,10621,10621,25408,Abnormal spleen morphology,HPO,phenotype,PHENOTYPE_10621
10622,10622,10622,10622,10622,10622,10622,10622,11010,Chronic,HPO,phenotype,PHENOTYPE_10622
10623,10623,10623,10623,10623,10623,10623,10623,514,Slow saccadic eye movements,HPO,phenotype,PHENOTYPE_10623
10624,10624,10624,10624,10624,10624,10624,10624,33550,Necrotizing pulmonary granulomatosis,HPO,phenotype,PHENOTYPE_10624
10625,10625,10625,10625,10625,10625,10625,10625,10485,Hyperextensibility at elbow,HPO,phenotype,PHENOTYPE_10625
10626,10626,10626,10626,10626,10626,10626,10626,1376,Limitation of joint mobility,HPO,phenotype,PHENOTYPE_10626
10627,10627,10627,10627,10627,10627,10627,10627,11009,Acute,HPO,phenotype,PHENOTYPE_10627
10628,10628,10628,10628,10628,10628,10628,10628,7687,Unilateral ptosis,HPO,phenotype,PHENOTYPE_10628
10629,10629,10629,10629,10629,10629,10629,10629,11611,Interrupted aortic arch,HPO,phenotype,PHENOTYPE_10629
10630,10630,10630,10630,10630,10630,10630,10630,8789,Cone-shaped capital femoral epiphysis,HPO,phenotype,PHENOTYPE_10630
10631,10631,10631,10631,10631,10631,10631,10631,5200108,Nonfunctional or atypical use of objects in play,HPO,phenotype,PHENOTYPE_10631
10632,10632,10632,10632,10632,10632,10632,10632,34316,Thinning of the substantia nigra pars compacta,HPO,phenotype,PHENOTYPE_10632
10633,10633,10633,10633,10633,10633,10633,10633,25128,Reduced intraabdominal adipose tissue,HPO,phenotype,PHENOTYPE_10633
10634,10634,10634,10634,10634,10634,10634,10634,30423,Splenic cyst,HPO,phenotype,PHENOTYPE_10634
10635,10635,10635,10635,10635,10635,10635,10635,500094,Latex allergy,HPO,phenotype,PHENOTYPE_10635
10636,10636,10636,10636,10636,10636,10636,10636,9582,Bullet-shaped proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_10636
10637,10637,10637,10637,10637,10637,10637,10637,25267,Snoring,HPO,phenotype,PHENOTYPE_10637
10638,10638,10638,10638,10638,10638,10638,10638,8353,Neutral hyperaminoaciduria,HPO,phenotype,PHENOTYPE_10638
10639,10639,10639,10639,10639,10639,10639,10639,410053,Elevated circulating gamma-aminobutyric acid concentration,HPO,phenotype,PHENOTYPE_10639
10640,10640,10640,10640,10640,10640,10640,10640,100488,Synostosis of the proximal phalanx of the hallux with the 1st metatarsal,HPO,phenotype,PHENOTYPE_10640
10641,10641,10641,10641,10641,10641,10641,10641,8117,Shortening of the talar neck,HPO,phenotype,PHENOTYPE_10641
10642,10642,10642,10642,10642,10642,10642,10642,6000044,Elongated temporal styloid process,HPO,phenotype,PHENOTYPE_10642
10643,10643,10643,10643,10643,10643,10643,10643,100044,Absent epiphyses of the 2nd toe,HPO,phenotype,PHENOTYPE_10643
10644,10644,10644,10644,10644,10644,10644,10644,33964,Interlobular intima/media venosclerosis,HPO,phenotype,PHENOTYPE_10644
10645,10645,10645,10645,10645,10645,10645,10645,3992,Slender ulna,HPO,phenotype,PHENOTYPE_10645
10646,10646,10646,10646,10646,10646,10646,10646,6001001,Elevated urine 3-hydroxysebacic acid level,HPO,phenotype,PHENOTYPE_10646
10647,10647,10647,10647,10647,10647,10647,10647,1056,Milia,HPO,phenotype,PHENOTYPE_10647
10648,10648,10648,10648,10648,10648,10648,10648,1005,Dermatological manifestations of systemic disorders,HPO,phenotype,PHENOTYPE_10648
10649,10649,10649,10649,10649,10649,10649,10649,4943,Accelerated atherosclerosis,HPO,phenotype,PHENOTYPE_10649
10650,10650,10650,10650,10650,10650,10650,10650,12837,Generalized,HPO,phenotype,PHENOTYPE_10650
10651,10651,10651,10651,10651,10651,10651,10651,32855,Photosensitive myoclonic-tonic-clonic seizure,HPO,phenotype,PHENOTYPE_10651
10652,10652,10652,10652,10652,10652,10652,10652,25564,Anterior chamber cells grade 2+,HPO,phenotype,PHENOTYPE_10652
10653,10653,10653,10653,10653,10653,10653,10653,40122,Impairment of the the acoustic reflex,HPO,phenotype,PHENOTYPE_10653
10654,10654,10654,10654,10654,10654,10654,10654,31414,High serum calcifediol,HPO,phenotype,PHENOTYPE_10654
10655,10655,10655,10655,10655,10655,10655,10655,8131,Tarsal stippling,HPO,phenotype,PHENOTYPE_10655
10656,10656,10656,10656,10656,10656,10656,10656,25713,Neurite dystrophy,HPO,phenotype,PHENOTYPE_10656
10657,10657,10657,10657,10657,10657,10657,10657,7529,Hidrotic ectodermal dysplasia,HPO,phenotype,PHENOTYPE_10657
10658,10658,10658,10658,10658,10658,10658,10658,12430,Cerebral white matter hypoplasia,HPO,phenotype,PHENOTYPE_10658
10659,10659,10659,10659,10659,10659,10659,10659,25031,Abnormality of the digestive system,HPO,phenotype,PHENOTYPE_10659
10660,10660,10660,10660,10660,10660,10660,10660,1038,Warfarin-induced skin necrosis,HPO,phenotype,PHENOTYPE_10660
10661,10661,10661,10661,10661,10661,10661,10661,6000125,Elevated urinary dolichol level,HPO,phenotype,PHENOTYPE_10661
10662,10662,10662,10662,10662,10662,10662,10662,8762,Repetitive compulsive behavior,HPO,phenotype,PHENOTYPE_10662
10663,10663,10663,10663,10663,10663,10663,10663,4213,Abnormal 5th finger phalanx morphology,HPO,phenotype,PHENOTYPE_10663
10664,10664,10664,10664,10664,10664,10664,10664,40255,Aplasia/Hypoplasia of the clitoris,HPO,phenotype,PHENOTYPE_10664
10665,10665,10665,10665,10665,10665,10665,10665,25079,Pancreatic abscess,HPO,phenotype,PHENOTYPE_10665
10666,10666,10666,10666,10666,10666,10666,10666,10540,Advanced pneumatization of cranial sinuses,HPO,phenotype,PHENOTYPE_10666
10667,10667,10667,10667,10667,10667,10667,10667,3965,Pseudarthrosis of the forearm bones,HPO,phenotype,PHENOTYPE_10667
10668,10668,10668,10668,10668,10668,10668,10668,34813,Hypospermatogenesis,HPO,phenotype,PHENOTYPE_10668
10669,10669,10669,10669,10669,10669,10669,10669,6001110,Oral mucosa plaque,HPO,phenotype,PHENOTYPE_10669
10670,10670,10670,10670,10670,10670,10670,10670,5085,Limited knee flexion/extension,HPO,phenotype,PHENOTYPE_10670
10671,10671,10671,10671,10671,10671,10671,10671,30743,Glial remnants anterior to the optic disc,HPO,phenotype,PHENOTYPE_10671
10672,10672,10672,10672,10672,10672,10672,10672,200012,Short corpus callosum,HPO,phenotype,PHENOTYPE_10672
10673,10673,10673,10673,10673,10673,10673,10673,10244,Abnormality of the epiphyses of the middle phalanges of the hand,HPO,phenotype,PHENOTYPE_10673
10674,10674,10674,10674,10674,10674,10674,10674,31029,Elevated circulating carcinoembryonic antigen concentration,HPO,phenotype,PHENOTYPE_10674
10675,10675,10675,10675,10675,10675,10675,10675,2823,Abnormal femur morphology,HPO,phenotype,PHENOTYPE_10675
10676,10676,10676,10676,10676,10676,10676,10676,31355,Maintenance insomnia,HPO,phenotype,PHENOTYPE_10676
10677,10677,10677,10677,10677,10677,10677,10677,10496,Hypertrophy of the lower limb,HPO,phenotype,PHENOTYPE_10677
10678,10678,10678,10678,10678,10678,10678,10678,30526,Severe constriction of peripheral visual field,HPO,phenotype,PHENOTYPE_10678
10679,10679,10679,10679,10679,10679,10679,10679,11238,Prominent inferior crus of antihelix,HPO,phenotype,PHENOTYPE_10679
10680,10680,10680,10680,10680,10680,10680,10680,2912,Methylmalonic acidemia,HPO,phenotype,PHENOTYPE_10680
10681,10681,10681,10681,10681,10681,10681,10681,25753,Elevated urinary 2-aminoisobutyric acid,HPO,phenotype,PHENOTYPE_10681
10682,10682,10682,10682,10682,10682,10682,10682,5250,High intestinal obstruction,HPO,phenotype,PHENOTYPE_10682
10683,10683,10683,10683,10683,10683,10683,10683,4260,Large hamate bone,HPO,phenotype,PHENOTYPE_10683
10684,10684,10684,10684,10684,10684,10684,10684,10254,Small epiphyses of the distal phalanges of the hand,HPO,phenotype,PHENOTYPE_10684
10685,10685,10685,10685,10685,10685,10685,10685,1291,Abnormal cranial nerve morphology,HPO,phenotype,PHENOTYPE_10685
10686,10686,10686,10686,10686,10686,10686,10686,31447,Penile freckling,HPO,phenotype,PHENOTYPE_10686
10687,10687,10687,10687,10687,10687,10687,10687,100143,Small epiphysis of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_10687
10688,10688,10688,10688,10688,10688,10688,10688,31773,Posterior communicating artery aneurysm,HPO,phenotype,PHENOTYPE_10688
10689,10689,10689,10689,10689,10689,10689,10689,951,Abnormality of the skin,HPO,phenotype,PHENOTYPE_10689
10690,10690,10690,10690,10690,10690,10690,10690,9272,Aplasia/Hypoplasia of the 4th finger,HPO,phenotype,PHENOTYPE_10690
10691,10691,10691,10691,10691,10691,10691,10691,8947,Infantile muscular hypotonia,HPO,phenotype,PHENOTYPE_10691
10692,10692,10692,10692,10692,10692,10692,10692,8589,Hypoplastic helices,HPO,phenotype,PHENOTYPE_10692
10693,10693,10693,10693,10693,10693,10693,10693,30246,Maternal first trimester fever,HPO,phenotype,PHENOTYPE_10693
10694,10694,10694,10694,10694,10694,10694,10694,6000964,Positive tissue encapsulated budding yeast test,HPO,phenotype,PHENOTYPE_10694
10695,10695,10695,10695,10695,10695,10695,10695,33201,Biceps hyporeflexia,HPO,phenotype,PHENOTYPE_10695
10696,10696,10696,10696,10696,10696,10696,10696,32227,Sebaceous hyperplasia,HPO,phenotype,PHENOTYPE_10696
10697,10697,10697,10697,10697,10697,10697,10697,33673,Positive Phalen test,HPO,phenotype,PHENOTYPE_10697
10698,10698,10698,10698,10698,10698,10698,10698,5592,Giant melanosomes in melanocytes,HPO,phenotype,PHENOTYPE_10698
10699,10699,10699,10699,10699,10699,10699,10699,4000083,Lack of interest in peers,HPO,phenotype,PHENOTYPE_10699
10700,10700,10700,10700,10700,10700,10700,10700,11213,EEG with photoparoxysmal response grade III,HPO,phenotype,PHENOTYPE_10700
10701,10701,10701,10701,10701,10701,10701,10701,10375,Osteolytic defects of the phalanges of the 4th toe,HPO,phenotype,PHENOTYPE_10701
10702,10702,10702,10702,10702,10702,10702,10702,10773,Partial anomalous pulmonary venous return,HPO,phenotype,PHENOTYPE_10702
10703,10703,10703,10703,10703,10703,10703,10703,30350,Erythematous papule,HPO,phenotype,PHENOTYPE_10703
10704,10704,10704,10704,10704,10704,10704,10704,7483,Depigmentation/hyperpigmentation of skin,HPO,phenotype,PHENOTYPE_10704
10705,10705,10705,10705,10705,10705,10705,10705,9354,Small epiphysis of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_10705
10706,10706,10706,10706,10706,10706,10706,10706,40225,Decrease in high molecular weight von Willebrand factor Multimers,HPO,phenotype,PHENOTYPE_10706
10707,10707,10707,10707,10707,10707,10707,10707,32367,Abnormal growth hormone level,HPO,phenotype,PHENOTYPE_10707
10708,10708,10708,10708,10708,10708,10708,10708,34579,Reduced epidermal integrin alpha6beta4 protein expression,HPO,phenotype,PHENOTYPE_10708
10709,10709,10709,10709,10709,10709,10709,10709,430142,Reduced circulating interleukin 6 concentration,HPO,phenotype,PHENOTYPE_10709
10710,10710,10710,10710,10710,10710,10710,10710,410185,Abnormal glucose-6-phosphate dehydrogenase level in tissue,HPO,phenotype,PHENOTYPE_10710
10711,10711,10711,10711,10711,10711,10711,10711,30735,Ureterovesical junction obstruction,HPO,phenotype,PHENOTYPE_10711
10712,10712,10712,10712,10712,10712,10712,10712,25793,Abnormal change in sexual drive,HPO,phenotype,PHENOTYPE_10712
10713,10713,10713,10713,10713,10713,10713,10713,100814,Blue nevus,HPO,phenotype,PHENOTYPE_10713
10714,10714,10714,10714,10714,10714,10714,10714,1791,Fetal ascites,HPO,phenotype,PHENOTYPE_10714
10715,10715,10715,10715,10715,10715,10715,10715,858,Irregular menstruation,HPO,phenotype,PHENOTYPE_10715
10716,10716,10716,10716,10716,10716,10716,10716,33313,Urinary space collagenization,HPO,phenotype,PHENOTYPE_10716
10717,10717,10717,10717,10717,10717,10717,10717,5752,Flattened moderately deformed vertebrae,HPO,phenotype,PHENOTYPE_10717
10718,10718,10718,10718,10718,10718,10718,10718,32369,Alkalemia,HPO,phenotype,PHENOTYPE_10718
10719,10719,10719,10719,10719,10719,10719,10719,7963,Pattern dystrophy of the retina,HPO,phenotype,PHENOTYPE_10719
10720,10720,10720,10720,10720,10720,10720,10720,32437,Reduced circulating C-reactive protein concecntration,HPO,phenotype,PHENOTYPE_10720
10721,10721,10721,10721,10721,10721,10721,10721,100034,Motor tics,HPO,phenotype,PHENOTYPE_10721
10722,10722,10722,10722,10722,10722,10722,10722,100844,Pancreatic fistula,HPO,phenotype,PHENOTYPE_10722
10723,10723,10723,10723,10723,10723,10723,10723,3854,Sclerosis of metaphyses of the upper limbs,HPO,phenotype,PHENOTYPE_10723
10724,10724,10724,10724,10724,10724,10724,10724,41189,Fractured epiphysis of femur,HPO,phenotype,PHENOTYPE_10724
10725,10725,10725,10725,10725,10725,10725,10725,100606,Neoplasm of the respiratory system,HPO,phenotype,PHENOTYPE_10725
10726,10726,10726,10726,10726,10726,10726,10726,7822,Central retinal exudate,HPO,phenotype,PHENOTYPE_10726
10727,10727,10727,10727,10727,10727,10727,10727,7522,Increased number of skin folds,HPO,phenotype,PHENOTYPE_10727
10728,10728,10728,10728,10728,10728,10728,10728,25358,Uveal ectropion,HPO,phenotype,PHENOTYPE_10728
10729,10729,10729,10729,10729,10729,10729,10729,31619,Anterior chamber flare grade 2+,HPO,phenotype,PHENOTYPE_10729
10730,10730,10730,10730,10730,10730,10730,10730,30874,Oxygen desaturation on exertion,HPO,phenotype,PHENOTYPE_10730
10731,10731,10731,10731,10731,10731,10731,10731,25070,Abnormal U wave,HPO,phenotype,PHENOTYPE_10731
10732,10732,10732,10732,10732,10732,10732,10732,3916,Normal-density transverse humeral bands,HPO,phenotype,PHENOTYPE_10732
10733,10733,10733,10733,10733,10733,10733,10733,32009,Infantile constant exotropia,HPO,phenotype,PHENOTYPE_10733
10734,10734,10734,10734,10734,10734,10734,10734,31318,Myofiber disarray,HPO,phenotype,PHENOTYPE_10734
10735,10735,10735,10735,10735,10735,10735,10735,33436,Elevated circulating 3-methyl-2-oxovaleric acid concentration,HPO,phenotype,PHENOTYPE_10735
10736,10736,10736,10736,10736,10736,10736,10736,1905,Congenital thrombocytopenia,HPO,phenotype,PHENOTYPE_10736
10737,10737,10737,10737,10737,10737,10737,10737,12034,Liposarcoma,HPO,phenotype,PHENOTYPE_10737
10738,10738,10738,10738,10738,10738,10738,10738,762,Decreased nerve conduction velocity,HPO,phenotype,PHENOTYPE_10738
10739,10739,10739,10739,10739,10739,10739,10739,34671,Knee contracture,HPO,phenotype,PHENOTYPE_10739
10740,10740,10740,10740,10740,10740,10740,10740,12257,Absent inner dynein arms,HPO,phenotype,PHENOTYPE_10740
10741,10741,10741,10741,10741,10741,10741,10741,5200105,Reduced imaginative play skills,HPO,phenotype,PHENOTYPE_10741
10742,10742,10742,10742,10742,10742,10742,10742,32126,Decreased proportion of unswitched memory B cells,HPO,phenotype,PHENOTYPE_10742
10743,10743,10743,10743,10743,10743,10743,10743,430092,BCL2 expression,HPO,phenotype,PHENOTYPE_10743
10744,10744,10744,10744,10744,10744,10744,10744,31874,Late chronotype,HPO,phenotype,PHENOTYPE_10744
10745,10745,10745,10745,10745,10745,10745,10745,32866,Oculoclonic status epilepticus,HPO,phenotype,PHENOTYPE_10745
10746,10746,10746,10746,10746,10746,10746,10746,6576,Hepatic vascular malformations,HPO,phenotype,PHENOTYPE_10746
10747,10747,10747,10747,10747,10747,10747,10747,1069,Episodic hyperhidrosis,HPO,phenotype,PHENOTYPE_10747
10748,10748,10748,10748,10748,10748,10748,10748,5200050,Excessive checking,HPO,phenotype,PHENOTYPE_10748
10749,10749,10749,10749,10749,10749,10749,10749,200030,Punctate vasculitis skin lesions,HPO,phenotype,PHENOTYPE_10749
10750,10750,10750,10750,10750,10750,10750,10750,32434,Delayed umbilical cord separation,HPO,phenotype,PHENOTYPE_10750
10751,10751,10751,10751,10751,10751,10751,10751,25485,Vaginal adenosis,HPO,phenotype,PHENOTYPE_10751
10752,10752,10752,10752,10752,10752,10752,10752,30978,Decreased CSF/serum albumin ratio,HPO,phenotype,PHENOTYPE_10752
10753,10753,10753,10753,10753,10753,10753,10753,100066,Absent epiphyses of the 4th toe,HPO,phenotype,PHENOTYPE_10753
10754,10754,10754,10754,10754,10754,10754,10754,11752,Neoplasm of the posterior pituitary,HPO,phenotype,PHENOTYPE_10754
10755,10755,10755,10755,10755,10755,10755,10755,500246,Increased CSF citrulline concentration,HPO,phenotype,PHENOTYPE_10755
10756,10756,10756,10756,10756,10756,10756,10756,12106,Rhizomelic leg shortening,HPO,phenotype,PHENOTYPE_10756
10757,10757,10757,10757,10757,10757,10757,10757,30171,Perirenal hematoma,HPO,phenotype,PHENOTYPE_10757
10758,10758,10758,10758,10758,10758,10758,10758,32270,Optic nerve tram-track sign,HPO,phenotype,PHENOTYPE_10758
10759,10759,10759,10759,10759,10759,10759,10759,32927,Focal impaired awareness undressing automatism seizure,HPO,phenotype,PHENOTYPE_10759
10760,10760,10760,10760,10760,10760,10760,10760,5788,Abnormal cervical myelogram,HPO,phenotype,PHENOTYPE_10760
10761,10761,10761,10761,10761,10761,10761,10761,447,Pear-shaped nose,HPO,phenotype,PHENOTYPE_10761
10762,10762,10762,10762,10762,10762,10762,10762,6000275,4-hydroxyphenyllactic aciduria,HPO,phenotype,PHENOTYPE_10762
10763,10763,10763,10763,10763,10763,10763,10763,100718,Uterine rupture,HPO,phenotype,PHENOTYPE_10763
10764,10764,10764,10764,10764,10764,10764,10764,100311,Cerebral ventricular adhesions,HPO,phenotype,PHENOTYPE_10764
10765,10765,10765,10765,10765,10765,10765,10765,410318,Decreased urinary 3-methylhistidine,HPO,phenotype,PHENOTYPE_10765
10766,10766,10766,10766,10766,10766,10766,10766,32142,Fetor hepaticus,HPO,phenotype,PHENOTYPE_10766
10767,10767,10767,10767,10767,10767,10767,10767,33262,Transphyseal fracture of the distal humerus,HPO,phenotype,PHENOTYPE_10767
10768,10768,10768,10768,10768,10768,10768,10768,3436,Prolonged miniature endplate currents,HPO,phenotype,PHENOTYPE_10768
10769,10769,10769,10769,10769,10769,10769,10769,40210,Abnormal circulating biopterin concentration,HPO,phenotype,PHENOTYPE_10769
10770,10770,10770,10770,10770,10770,10770,10770,9573,Patchy sclerosis of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_10770
10771,10771,10771,10771,10771,10771,10771,10771,34023,Anti-HLA-B IgG1 antibody positivity,HPO,phenotype,PHENOTYPE_10771
10772,10772,10772,10772,10772,10772,10772,10772,4048,Narrow joint spaces of wrist,HPO,phenotype,PHENOTYPE_10772
10773,10773,10773,10773,10773,10773,10773,10773,31268,Decreased CD69 upregulation upon TCR activation,HPO,phenotype,PHENOTYPE_10773
10774,10774,10774,10774,10774,10774,10774,10774,33361,Nasal ulcer,HPO,phenotype,PHENOTYPE_10774
10775,10775,10775,10775,10775,10775,10775,10775,6000772,Auriculitis,HPO,phenotype,PHENOTYPE_10775
10776,10776,10776,10776,10776,10776,10776,10776,6001185,Elevated circulating glucosylsphingosine concentration,HPO,phenotype,PHENOTYPE_10776
10777,10777,10777,10777,10777,10777,10777,10777,11826,Philtrum with midline raphe,HPO,phenotype,PHENOTYPE_10777
10778,10778,10778,10778,10778,10778,10778,10778,25618,Reduced plasma cell count,HPO,phenotype,PHENOTYPE_10778
10779,10779,10779,10779,10779,10779,10779,10779,33158,Reduced respiratory ciliary beating frequency,HPO,phenotype,PHENOTYPE_10779
10780,10780,10780,10780,10780,10780,10780,10780,6000735,Positive mycobacterial synovial nucleic acid test,HPO,phenotype,PHENOTYPE_10780
10781,10781,10781,10781,10781,10781,10781,10781,33739,Secondary vesicoureteral reflux,HPO,phenotype,PHENOTYPE_10781
10782,10782,10782,10782,10782,10782,10782,10782,6332,Supernumerary maxillary incisor,HPO,phenotype,PHENOTYPE_10782
10783,10783,10783,10783,10783,10783,10783,10783,10149,Absent epiphysis of the 1st metatarsal,HPO,phenotype,PHENOTYPE_10783
10784,10784,10784,10784,10784,10784,10784,10784,4000036,Encysted hydrocele of the cord,HPO,phenotype,PHENOTYPE_10784
10785,10785,10785,10785,10785,10785,10785,10785,34561,Malignant rhabdoid tumor of liver,HPO,phenotype,PHENOTYPE_10785
10786,10786,10786,10786,10786,10786,10786,10786,748,Inappropriate laughter,HPO,phenotype,PHENOTYPE_10786
10787,10787,10787,10787,10787,10787,10787,10787,12781,Mid-frequency hearing loss,HPO,phenotype,PHENOTYPE_10787
10788,10788,10788,10788,10788,10788,10788,10788,5841,Calcific stippling of infantile cartilaginous skeleton,HPO,phenotype,PHENOTYPE_10788
10789,10789,10789,10789,10789,10789,10789,10789,6001180,Vogt striae,HPO,phenotype,PHENOTYPE_10789
10790,10790,10790,10790,10790,10790,10790,10790,4000169,Pontine T2 hypointensity,HPO,phenotype,PHENOTYPE_10790
10791,10791,10791,10791,10791,10791,10791,10791,100491,Abnormality of lower limb joint,HPO,phenotype,PHENOTYPE_10791
10792,10792,10792,10792,10792,10792,10792,10792,8263,Thyroid defect in oxidation and organification of iodide,HPO,phenotype,PHENOTYPE_10792
10793,10793,10793,10793,10793,10793,10793,10793,20185,Superior cerebellar dysplasia,HPO,phenotype,PHENOTYPE_10793
10794,10794,10794,10794,10794,10794,10794,10794,1204,Distal symphalangism of hands,HPO,phenotype,PHENOTYPE_10794
10795,10795,10795,10795,10795,10795,10795,10795,30135,Absence of intermediate von Willebrand factor multimers,HPO,phenotype,PHENOTYPE_10795
10796,10796,10796,10796,10796,10796,10796,10796,10659,Patchy variation in bone mineral density,HPO,phenotype,PHENOTYPE_10796
10797,10797,10797,10797,10797,10797,10797,10797,31418,Increased body mass index,HPO,phenotype,PHENOTYPE_10797
10798,10798,10798,10798,10798,10798,10798,10798,31220,Increased radioactive iodine uptake,HPO,phenotype,PHENOTYPE_10798
10799,10799,10799,10799,10799,10799,10799,10799,10631,Abnormality of the epiphyses of the feet,HPO,phenotype,PHENOTYPE_10799
10800,10800,10800,10800,10800,10800,10800,10800,410211,Abnormal blood gas level in cord blood,HPO,phenotype,PHENOTYPE_10800
10801,10801,10801,10801,10801,10801,10801,10801,666,Horizontal nystagmus,HPO,phenotype,PHENOTYPE_10801
10802,10802,10802,10802,10802,10802,10802,10802,5033,Distal ulnar hypoplasia,HPO,phenotype,PHENOTYPE_10802
10803,10803,10803,10803,10803,10803,10803,10803,9444,Patchy sclerosis of 3rd finger phalanx,HPO,phenotype,PHENOTYPE_10803
10804,10804,10804,10804,10804,10804,10804,10804,34272,Perifoveal hypoautofluorescence,HPO,phenotype,PHENOTYPE_10804
10805,10805,10805,10805,10805,10805,10805,10805,30890,Hyperintensity of cerebral white matter on MRI,HPO,phenotype,PHENOTYPE_10805
10806,10806,10806,10806,10806,10806,10806,10806,12821,Unilateral vocal cord paresis,HPO,phenotype,PHENOTYPE_10806
10807,10807,10807,10807,10807,10807,10807,10807,34918,"Reduced muscle 2,4-dienoyl-CoA reductase activity",HPO,phenotype,PHENOTYPE_10807
10808,10808,10808,10808,10808,10808,10808,10808,6000004,Lymphangiosarcoma,HPO,phenotype,PHENOTYPE_10808
10809,10809,10809,10809,10809,10809,10809,10809,33212,Abnormal total iron binding capacity,HPO,phenotype,PHENOTYPE_10809
10810,10810,10810,10810,10810,10810,10810,10810,31848,Cock-walk gait,HPO,phenotype,PHENOTYPE_10810
10811,10811,10811,10811,10811,10811,10811,10811,12530,Abnormal number of dense granules,HPO,phenotype,PHENOTYPE_10811
10812,10812,10812,10812,10812,10812,10812,10812,2687,Abnormality of frontal sinus,HPO,phenotype,PHENOTYPE_10812
10813,10813,10813,10813,10813,10813,10813,10813,6000484,Elevated brain guanidinoacetate level by MRS,HPO,phenotype,PHENOTYPE_10813
10814,10814,10814,10814,10814,10814,10814,10814,100258,Preaxial polydactyly,HPO,phenotype,PHENOTYPE_10814
10815,10815,10815,10815,10815,10815,10815,10815,7858,Chorioretinal lacunae,HPO,phenotype,PHENOTYPE_10815
10816,10816,10816,10816,10816,10816,10816,10816,8303,Olivary degeneration,HPO,phenotype,PHENOTYPE_10816
10817,10817,10817,10817,10817,10817,10817,10817,33021,Transient decreased circulating IgE concentration,HPO,phenotype,PHENOTYPE_10817
10818,10818,10818,10818,10818,10818,10818,10818,6000310,Preterm premature rupture of membranes,HPO,phenotype,PHENOTYPE_10818
10819,10819,10819,10819,10819,10819,10819,10819,6000622,Elevated urinary ureidoisobutyric acid level,HPO,phenotype,PHENOTYPE_10819
10820,10820,10820,10820,10820,10820,10820,10820,9085,Alveolar ridge overgrowth,HPO,phenotype,PHENOTYPE_10820
10821,10821,10821,10821,10821,10821,10821,10821,30096,Abnormal muscle fiber dystrophin expression,HPO,phenotype,PHENOTYPE_10821
10822,10822,10822,10822,10822,10822,10822,10822,6001190,Abnormal MHC surface expression,HPO,phenotype,PHENOTYPE_10822
10823,10823,10823,10823,10823,10823,10823,10823,25692,Atelencephaly,HPO,phenotype,PHENOTYPE_10823
10824,10824,10824,10824,10824,10824,10824,10824,5346,Abnormal facial expression,HPO,phenotype,PHENOTYPE_10824
10825,10825,10825,10825,10825,10825,10825,10825,25293,Distributed along Blaschko lines,HPO,phenotype,PHENOTYPE_10825
10826,10826,10826,10826,10826,10826,10826,10826,3000039,Abnormality of dorsal nasal artery,HPO,phenotype,PHENOTYPE_10826
10827,10827,10827,10827,10827,10827,10827,10827,2972,Reduced delayed hypersensitivity,HPO,phenotype,PHENOTYPE_10827
10828,10828,10828,10828,10828,10828,10828,10828,5151,Preductal coarctation of the aorta,HPO,phenotype,PHENOTYPE_10828
10829,10829,10829,10829,10829,10829,10829,10829,11518,Dichromacy,HPO,phenotype,PHENOTYPE_10829
10830,10830,10830,10830,10830,10830,10830,10830,6000233,Carcinoid tumor of the pancreas,HPO,phenotype,PHENOTYPE_10830
10831,10831,10831,10831,10831,10831,10831,10831,30779,Ethmocephaly,HPO,phenotype,PHENOTYPE_10831
10832,10832,10832,10832,10832,10832,10832,10832,34660,Elevated urine 2-methylacetoacetic acid level,HPO,phenotype,PHENOTYPE_10832
10833,10833,10833,10833,10833,10833,10833,10833,100379,Aplasia of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_10833
10834,10834,10834,10834,10834,10834,10834,10834,30902,Palmomental reflex,HPO,phenotype,PHENOTYPE_10834
10835,10835,10835,10835,10835,10835,10835,10835,430081,Anti-Bartonella henselae antibody positivity,HPO,phenotype,PHENOTYPE_10835
10836,10836,10836,10836,10836,10836,10836,10836,100059,Fragmentation of the epiphyses of the 3rd toe,HPO,phenotype,PHENOTYPE_10836
10837,10837,10837,10837,10837,10837,10837,10837,7581,"Mediosternal, longitudinal streak of hypopigmentation",HPO,phenotype,PHENOTYPE_10837
10838,10838,10838,10838,10838,10838,10838,10838,7550,Hypohidrosis or hyperhidrosis,HPO,phenotype,PHENOTYPE_10838
10839,10839,10839,10839,10839,10839,10839,10839,6000253,Necrotizing vasculitis,HPO,phenotype,PHENOTYPE_10839
10840,10840,10840,10840,10840,10840,10840,10840,33306,Decreased circulating fetuin A concentration,HPO,phenotype,PHENOTYPE_10840
10841,10841,10841,10841,10841,10841,10841,10841,5200007,Neologism,HPO,phenotype,PHENOTYPE_10841
10842,10842,10842,10842,10842,10842,10842,10842,10873,Cervical spinal cord atrophy,HPO,phenotype,PHENOTYPE_10842
10843,10843,10843,10843,10843,10843,10843,10843,10455,Steep acetabular roof,HPO,phenotype,PHENOTYPE_10843
10844,10844,10844,10844,10844,10844,10844,10844,5000009,Anti-GABA(A)R antibody,HPO,phenotype,PHENOTYPE_10844
10845,10845,10845,10845,10845,10845,10845,10845,4000171,Anti-voltage-gated potassium channel antibody positivity,HPO,phenotype,PHENOTYPE_10845
10846,10846,10846,10846,10846,10846,10846,10846,3529,Parathormone-independent increased renal tubular calcium reabsorption,HPO,phenotype,PHENOTYPE_10846
10847,10847,10847,10847,10847,10847,10847,10847,11510,Drusen,HPO,phenotype,PHENOTYPE_10847
10848,10848,10848,10848,10848,10848,10848,10848,12640,Abnormality of intracranial pressure,HPO,phenotype,PHENOTYPE_10848
10849,10849,10849,10849,10849,10849,10849,10849,4259,Abnormal hamate bone morphology,HPO,phenotype,PHENOTYPE_10849
10850,10850,10850,10850,10850,10850,10850,10850,6785,Limb-girdle muscular dystrophy,HPO,phenotype,PHENOTYPE_10850
10851,10851,10851,10851,10851,10851,10851,10851,3127,Hypocalciuria,HPO,phenotype,PHENOTYPE_10851
10852,10852,10852,10852,10852,10852,10852,10852,10181,Duplication of phalanx of toe,HPO,phenotype,PHENOTYPE_10852
10853,10853,10853,10853,10853,10853,10853,10853,3023,Bowing of limbs due to multiple fractures,HPO,phenotype,PHENOTYPE_10853
10854,10854,10854,10854,10854,10854,10854,10854,12703,Abnormal subarachnoid space morphology,HPO,phenotype,PHENOTYPE_10854
10855,10855,10855,10855,10855,10855,10855,10855,8823,Inferior pubic ramus hypoplasia,HPO,phenotype,PHENOTYPE_10855
10856,10856,10856,10856,10856,10856,10856,10856,4264,Narrow carpal joint spaces,HPO,phenotype,PHENOTYPE_10856
10857,10857,10857,10857,10857,10857,10857,10857,9503,Bracket epiphysis of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_10857
10858,10858,10858,10858,10858,10858,10858,10858,100038,Slow-growing scalp hair,HPO,phenotype,PHENOTYPE_10858
10859,10859,10859,10859,10859,10859,10859,10859,41163,Fractured manual digit,HPO,phenotype,PHENOTYPE_10859
10860,10860,10860,10860,10860,10860,10860,10860,25073,Exercise-induced U wave inversion,HPO,phenotype,PHENOTYPE_10860
10861,10861,10861,10861,10861,10861,10861,10861,25173,Nodular septal thickening on pulmonary HRCT,HPO,phenotype,PHENOTYPE_10861
10862,10862,10862,10862,10862,10862,10862,10862,7103,Hypointensity of cerebral white matter on MRI,HPO,phenotype,PHENOTYPE_10862
10863,10863,10863,10863,10863,10863,10863,10863,1737,Pancreatic cysts,HPO,phenotype,PHENOTYPE_10863
10864,10864,10864,10864,10864,10864,10864,10864,11361,Congenital abnormal hair pattern,HPO,phenotype,PHENOTYPE_10864
10865,10865,10865,10865,10865,10865,10865,10865,31390,Reduced MHC II cell surface expression,HPO,phenotype,PHENOTYPE_10865
10866,10866,10866,10866,10866,10866,10866,10866,33901,Abnormal arcuate artery endothelium morphology,HPO,phenotype,PHENOTYPE_10866
10867,10867,10867,10867,10867,10867,10867,10867,6172,"Flattened, squared-off epiphyses of tubular bones",HPO,phenotype,PHENOTYPE_10867
10868,10868,10868,10868,10868,10868,10868,10868,3459,Polyclonal elevation of IgM,HPO,phenotype,PHENOTYPE_10868
10869,10869,10869,10869,10869,10869,10869,10869,16,Urinary retention,HPO,phenotype,PHENOTYPE_10869
10870,10870,10870,10870,10870,10870,10870,10870,561,Absent eyelashes,HPO,phenotype,PHENOTYPE_10870
10871,10871,10871,10871,10871,10871,10871,10871,7667,Peripheral cystoid retinal degeneration,HPO,phenotype,PHENOTYPE_10871
10872,10872,10872,10872,10872,10872,10872,10872,25627,Increased circulating octadecanoate level,HPO,phenotype,PHENOTYPE_10872
10873,10873,10873,10873,10873,10873,10873,10873,9148,Small epiphysis of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_10873
10874,10874,10874,10874,10874,10874,10874,10874,34108,Anti-Y-box protein-1 antibody positivity,HPO,phenotype,PHENOTYPE_10874
10875,10875,10875,10875,10875,10875,10875,10875,6001163,Finger mass,HPO,phenotype,PHENOTYPE_10875
10876,10876,10876,10876,10876,10876,10876,10876,6000574,Reduced tissue carnitine-acylcarnitine translocase activity,HPO,phenotype,PHENOTYPE_10876
10877,10877,10877,10877,10877,10877,10877,10877,100037,Abnormality of the scalp hair,HPO,phenotype,PHENOTYPE_10877
10878,10878,10878,10878,10878,10878,10878,10878,31233,Horizontal inferior border of scapula,HPO,phenotype,PHENOTYPE_10878
10879,10879,10879,10879,10879,10879,10879,10879,4000028,Anti-LABD97 antibody positivity,HPO,phenotype,PHENOTYPE_10879
10880,10880,10880,10880,10880,10880,10880,10880,30310,Upper extremity joint dislocation,HPO,phenotype,PHENOTYPE_10880
10881,10881,10881,10881,10881,10881,10881,10881,33827,Anterior mediastinal mass,HPO,phenotype,PHENOTYPE_10881
10882,10882,10882,10882,10882,10882,10882,10882,40050,Sparse upper eyelashes,HPO,phenotype,PHENOTYPE_10882
10883,10883,10883,10883,10883,10883,10883,10883,11105,Hypervolemia,HPO,phenotype,PHENOTYPE_10883
10884,10884,10884,10884,10884,10884,10884,10884,4253,Absent trapezium,HPO,phenotype,PHENOTYPE_10884
10885,10885,10885,10885,10885,10885,10885,10885,9414,Fragmentation of the epiphyses of the 3rd finger,HPO,phenotype,PHENOTYPE_10885
10886,10886,10886,10886,10886,10886,10886,10886,7867,Restrictive partial external ophthalmoplegia,HPO,phenotype,PHENOTYPE_10886
10887,10887,10887,10887,10887,10887,10887,10887,10808,Protruding tongue,HPO,phenotype,PHENOTYPE_10887
10888,10888,10888,10888,10888,10888,10888,10888,6000353,Reduced tissue argininosuccinate synthetase activity,HPO,phenotype,PHENOTYPE_10888
10889,10889,10889,10889,10889,10889,10889,10889,6000020,Binge drinking,HPO,phenotype,PHENOTYPE_10889
10890,10890,10890,10890,10890,10890,10890,10890,6000781,Reduced tissue phosphomannomutase activity,HPO,phenotype,PHENOTYPE_10890
10891,10891,10891,10891,10891,10891,10891,10891,31841,Positive urine methadone test,HPO,phenotype,PHENOTYPE_10891
10892,10892,10892,10892,10892,10892,10892,10892,41084,Compression-fractured thoracic vertebra,HPO,phenotype,PHENOTYPE_10892
10893,10893,10893,10893,10893,10893,10893,10893,12675,Iron accumulation in brain,HPO,phenotype,PHENOTYPE_10893
10894,10894,10894,10894,10894,10894,10894,10894,3453,Antineutrophil antibody positivity,HPO,phenotype,PHENOTYPE_10894
10895,10895,10895,10895,10895,10895,10895,10895,5200061,Tactile hypersensitivity,HPO,phenotype,PHENOTYPE_10895
10896,10896,10896,10896,10896,10896,10896,10896,9168,Bullet-shaped middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_10896
10897,10897,10897,10897,10897,10897,10897,10897,539,Abnormality of refraction,HPO,phenotype,PHENOTYPE_10897
10898,10898,10898,10898,10898,10898,10898,10898,10289,Cleft maxillary alveolar ridge,HPO,phenotype,PHENOTYPE_10898
10899,10899,10899,10899,10899,10899,10899,10899,9431,Bullet-shaped middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_10899
10900,10900,10900,10900,10900,10900,10900,10900,31193,Abnormal morphology of right ventricular trabeculae,HPO,phenotype,PHENOTYPE_10900
10901,10901,10901,10901,10901,10901,10901,10901,31314,Carotid artery calcification,HPO,phenotype,PHENOTYPE_10901
10902,10902,10902,10902,10902,10902,10902,10902,9930,Asymmetry of the nares,HPO,phenotype,PHENOTYPE_10902
10903,10903,10903,10903,10903,10903,10903,10903,2864,Paraganglioma of head and neck,HPO,phenotype,PHENOTYPE_10903
10904,10904,10904,10904,10904,10904,10904,10904,4952,Pulmonary arteriovenous fistulas,HPO,phenotype,PHENOTYPE_10904
10905,10905,10905,10905,10905,10905,10905,10905,30147,Truncal titubation,HPO,phenotype,PHENOTYPE_10905
10906,10906,10906,10906,10906,10906,10906,10906,2270,Abnormality of the autonomic nervous system,HPO,phenotype,PHENOTYPE_10906
10907,10907,10907,10907,10907,10907,10907,10907,430133,Tobacco use history,HPO,phenotype,PHENOTYPE_10907
10908,10908,10908,10908,10908,10908,10908,10908,100876,Infra-orbital crease,HPO,phenotype,PHENOTYPE_10908
10909,10909,10909,10909,10909,10909,10909,10909,1627,Abnormal heart morphology,HPO,phenotype,PHENOTYPE_10909
10910,10910,10910,10910,10910,10910,10910,10910,8271,Abnormal cartilage collagen,HPO,phenotype,PHENOTYPE_10910
10911,10911,10911,10911,10911,10911,10911,10911,8108,Advanced tarsal ossification,HPO,phenotype,PHENOTYPE_10911
10912,10912,10912,10912,10912,10912,10912,10912,31808,Decreased basophil count,HPO,phenotype,PHENOTYPE_10912
10913,10913,10913,10913,10913,10913,10913,10913,8205,Insulin-dependent but ketosis-resistant diabetes,HPO,phenotype,PHENOTYPE_10913
10914,10914,10914,10914,10914,10914,10914,10914,12348,Decreased galactosylation of N-linked protein glycosylation,HPO,phenotype,PHENOTYPE_10914
10915,10915,10915,10915,10915,10915,10915,10915,31316,Abnormal ventricular myocardium morphology,HPO,phenotype,PHENOTYPE_10915
10916,10916,10916,10916,10916,10916,10916,10916,33111,3-hydroxyisovaleric aciduria,HPO,phenotype,PHENOTYPE_10916
10917,10917,10917,10917,10917,10917,10917,10917,410206,Increased circulating nicotinurate level,HPO,phenotype,PHENOTYPE_10917
10918,10918,10918,10918,10918,10918,10918,10918,33886,Abnormal arcuate artery intima/media morphology,HPO,phenotype,PHENOTYPE_10918
10919,10919,10919,10919,10919,10919,10919,10919,10269,Bracket epiphyses of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_10919
10920,10920,10920,10920,10920,10920,10920,10920,25141,Gingival calcification,HPO,phenotype,PHENOTYPE_10920
10921,10921,10921,10921,10921,10921,10921,10921,500063,Retinopathy of prematurity pre-plus,HPO,phenotype,PHENOTYPE_10921
10922,10922,10922,10922,10922,10922,10922,10922,6846,Acute encephalopathy,HPO,phenotype,PHENOTYPE_10922
10923,10923,10923,10923,10923,10923,10923,10923,2885,Medulloblastoma,HPO,phenotype,PHENOTYPE_10923
10924,10924,10924,10924,10924,10924,10924,10924,430102,CD20 expression,HPO,phenotype,PHENOTYPE_10924
10925,10925,10925,10925,10925,10925,10925,10925,10307,Stridor,HPO,phenotype,PHENOTYPE_10925
10926,10926,10926,10926,10926,10926,10926,10926,430113,Continuous involuntary vocalizations,HPO,phenotype,PHENOTYPE_10926
10927,10927,10927,10927,10927,10927,10927,10927,1583,Rotary nystagmus,HPO,phenotype,PHENOTYPE_10927
10928,10928,10928,10928,10928,10928,10928,10928,8587,Mild neurosensory hearing impairment,HPO,phenotype,PHENOTYPE_10928
10929,10929,10929,10929,10929,10929,10929,10929,2366,Abnormal lower motor neuron morphology,HPO,phenotype,PHENOTYPE_10929
10930,10930,10930,10930,10930,10930,10930,10930,34686,Reduced hepatic urocanase activity,HPO,phenotype,PHENOTYPE_10930
10931,10931,10931,10931,10931,10931,10931,10931,25603,Abnormal superior rectus muscle physiology,HPO,phenotype,PHENOTYPE_10931
10932,10932,10932,10932,10932,10932,10932,10932,11797,Papillary renal cell carcinoma type 1,HPO,phenotype,PHENOTYPE_10932
10933,10933,10933,10933,10933,10933,10933,10933,12831,Laterality,HPO,phenotype,PHENOTYPE_10933
10934,10934,10934,10934,10934,10934,10934,10934,30634,Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence,HPO,phenotype,PHENOTYPE_10934
10935,10935,10935,10935,10935,10935,10935,10935,2509,Limb hypertonia,HPO,phenotype,PHENOTYPE_10935
10936,10936,10936,10936,10936,10936,10936,10936,3000019,Abnormal buccal mucosa morphology,HPO,phenotype,PHENOTYPE_10936
10937,10937,10937,10937,10937,10937,10937,10937,33779,Barrel-shaped tooth,HPO,phenotype,PHENOTYPE_10937
10938,10938,10938,10938,10938,10938,10938,10938,32153,Joint subluxation,HPO,phenotype,PHENOTYPE_10938
10939,10939,10939,10939,10939,10939,10939,10939,11713,Left bundle branch block,HPO,phenotype,PHENOTYPE_10939
10940,10940,10940,10940,10940,10940,10940,10940,3995,Abnormality of the radial head,HPO,phenotype,PHENOTYPE_10940
10941,10941,10941,10941,10941,10941,10941,10941,9203,Absent epiphysis of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_10941
10942,10942,10942,10942,10942,10942,10942,10942,3006,Neuroblastoma,HPO,phenotype,PHENOTYPE_10942
10943,10943,10943,10943,10943,10943,10943,10943,400000,Tall chin,HPO,phenotype,PHENOTYPE_10943
10944,10944,10944,10944,10944,10944,10944,10944,4000100,Positive lactose hydrogen breath test,HPO,phenotype,PHENOTYPE_10944
10945,10945,10945,10945,10945,10945,10945,10945,12608,Hypermagnesiuria,HPO,phenotype,PHENOTYPE_10945
10946,10946,10946,10946,10946,10946,10946,10946,1987,Hyperammonemia,HPO,phenotype,PHENOTYPE_10946
10947,10947,10947,10947,10947,10947,10947,10947,6000629,Nipple thickening,HPO,phenotype,PHENOTYPE_10947
10948,10948,10948,10948,10948,10948,10948,10948,5200017,Stereotypic movements of face and head,HPO,phenotype,PHENOTYPE_10948
10949,10949,10949,10949,10949,10949,10949,10949,25136,Increased serum estriol,HPO,phenotype,PHENOTYPE_10949
10950,10950,10950,10950,10950,10950,10950,10950,12135,Abnormal granulocytopoietic cell morphology,HPO,phenotype,PHENOTYPE_10950
10951,10951,10951,10951,10951,10951,10951,10951,32899,Focal orofacial automatism seizure,HPO,phenotype,PHENOTYPE_10951
10952,10952,10952,10952,10952,10952,10952,10952,619,Impaired convergence,HPO,phenotype,PHENOTYPE_10952
10953,10953,10953,10953,10953,10953,10953,10953,4528,Generalized hypotrichosis,HPO,phenotype,PHENOTYPE_10953
10954,10954,10954,10954,10954,10954,10954,10954,10935,Abnormality of the upper urinary tract,HPO,phenotype,PHENOTYPE_10954
10955,10955,10955,10955,10955,10955,10955,10955,11243,Abnormality of inferior crus of antihelix,HPO,phenotype,PHENOTYPE_10955
10956,10956,10956,10956,10956,10956,10956,10956,32779,Focal impaired awareness autonomic seizure with pupillary dilation/constriction,HPO,phenotype,PHENOTYPE_10956
10957,10957,10957,10957,10957,10957,10957,10957,3926,Abnormal humeral diaphysis morphology,HPO,phenotype,PHENOTYPE_10957
10958,10958,10958,10958,10958,10958,10958,10958,6000157,Decreased pancreatic acinar cell density,HPO,phenotype,PHENOTYPE_10958
10959,10959,10959,10959,10959,10959,10959,10959,30788,Impacted cerumen,HPO,phenotype,PHENOTYPE_10959
10960,10960,10960,10960,10960,10960,10960,10960,100413,Complete duplication of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_10960
10961,10961,10961,10961,10961,10961,10961,10961,30319,Weakness of facial musculature,HPO,phenotype,PHENOTYPE_10961
10962,10962,10962,10962,10962,10962,10962,10962,5200046,Sensory behavioral abnormality,HPO,phenotype,PHENOTYPE_10962
10963,10963,10963,10963,10963,10963,10963,10963,500253,Increased level of gamma-aminobutyric acid in urine,HPO,phenotype,PHENOTYPE_10963
10964,10964,10964,10964,10964,10964,10964,10964,30943,Vulvodynia,HPO,phenotype,PHENOTYPE_10964
10965,10965,10965,10965,10965,10965,10965,10965,1441,Abnormality thigh musculature morphology,HPO,phenotype,PHENOTYPE_10965
10966,10966,10966,10966,10966,10966,10966,10966,2371,Loss of speech,HPO,phenotype,PHENOTYPE_10966
10967,10967,10967,10967,10967,10967,10967,10967,6000510,Elevated erythrocyte inosine triphosphate concentration,HPO,phenotype,PHENOTYPE_10967
10968,10968,10968,10968,10968,10968,10968,10968,11894,Impaired thromboxane A2 agonist-induced platelet aggregation,HPO,phenotype,PHENOTYPE_10968
10969,10969,10969,10969,10969,10969,10969,10969,31077,Abnormal response to corticotropin releasing hormone stimulation test,HPO,phenotype,PHENOTYPE_10969
10970,10970,10970,10970,10970,10970,10970,10970,8050,Abnormality of the palpebral fissures,HPO,phenotype,PHENOTYPE_10970
10971,10971,10971,10971,10971,10971,10971,10971,10570,Low maternal circulating alpha-fetoprotein concentration,HPO,phenotype,PHENOTYPE_10971
10972,10972,10972,10972,10972,10972,10972,10972,34043,Increased fecal bile acid,HPO,phenotype,PHENOTYPE_10972
10973,10973,10973,10973,10973,10973,10973,10973,30334,"Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology",HPO,phenotype,PHENOTYPE_10973
10974,10974,10974,10974,10974,10974,10974,10974,6000459,Retracted tympanic membrane,HPO,phenotype,PHENOTYPE_10974
10975,10975,10975,10975,10975,10975,10975,10975,30172,Peripheral amyelination,HPO,phenotype,PHENOTYPE_10975
10976,10976,10976,10976,10976,10976,10976,10976,31782,Microtropia without identity,HPO,phenotype,PHENOTYPE_10976
10977,10977,10977,10977,10977,10977,10977,10977,2544,Retrocollis,HPO,phenotype,PHENOTYPE_10977
10978,10978,10978,10978,10978,10978,10978,10978,10858,EEG with hyperventilation-induced epileptiform discharges,HPO,phenotype,PHENOTYPE_10978
10979,10979,10979,10979,10979,10979,10979,10979,410395,"Increased proportion of effector memory CD8-positive, alpha-beta T cells",HPO,phenotype,PHENOTYPE_10979
10980,10980,10980,10980,10980,10980,10980,10980,6000383,Gastric perforation,HPO,phenotype,PHENOTYPE_10980
10981,10981,10981,10981,10981,10981,10981,10981,8002,Abnormality of macular pigmentation,HPO,phenotype,PHENOTYPE_10981
10982,10982,10982,10982,10982,10982,10982,10982,100359,Contracture of the metatarsophalangeal joint of the 5th toe,HPO,phenotype,PHENOTYPE_10982
10983,10983,10983,10983,10983,10983,10983,10983,9552,Aplasia/Hypoplasia of the phalanges of the 2nd finger,HPO,phenotype,PHENOTYPE_10983
10984,10984,10984,10984,10984,10984,10984,10984,11004,Abnormal systemic arterial morphology,HPO,phenotype,PHENOTYPE_10984
10985,10985,10985,10985,10985,10985,10985,10985,25410,Splenogonadal fusion,HPO,phenotype,PHENOTYPE_10985
10986,10986,10986,10986,10986,10986,10986,10986,223,Abnormality of taste sensation,HPO,phenotype,PHENOTYPE_10986
10987,10987,10987,10987,10987,10987,10987,10987,100295,Muscle fiber atrophy,HPO,phenotype,PHENOTYPE_10987
10988,10988,10988,10988,10988,10988,10988,10988,8499,High hypermetropia,HPO,phenotype,PHENOTYPE_10988
10989,10989,10989,10989,10989,10989,10989,10989,4940,Generalized arterial calcification,HPO,phenotype,PHENOTYPE_10989
10990,10990,10990,10990,10990,10990,10990,10990,8883,Mild intrauterine growth retardation,HPO,phenotype,PHENOTYPE_10990
10991,10991,10991,10991,10991,10991,10991,10991,4000114,Statin exposure,HPO,phenotype,PHENOTYPE_10991
10992,10992,10992,10992,10992,10992,10992,10992,32916,Focal aware verbal automatism seizure,HPO,phenotype,PHENOTYPE_10992
10993,10993,10993,10993,10993,10993,10993,10993,12287,Hypothalamic luteinizing hormone-releasing hormone deficiency,HPO,phenotype,PHENOTYPE_10993
10994,10994,10994,10994,10994,10994,10994,10994,6000991,Elevated circulating 4-hydroxybutyric acid concentration,HPO,phenotype,PHENOTYPE_10994
10995,10995,10995,10995,10995,10995,10995,10995,4431,Reduced circulating complement concentration,HPO,phenotype,PHENOTYPE_10995
10996,10996,10996,10996,10996,10996,10996,10996,1694,Right-to-left shunt,HPO,phenotype,PHENOTYPE_10996
10997,10997,10997,10997,10997,10997,10997,10997,100672,Vaginal hernia,HPO,phenotype,PHENOTYPE_10997
10998,10998,10998,10998,10998,10998,10998,10998,11899,Hyperfibrinogenemia,HPO,phenotype,PHENOTYPE_10998
10999,10999,10999,10999,10999,10999,10999,10999,30529,Ring scotoma,HPO,phenotype,PHENOTYPE_10999
11000,11000,11000,11000,11000,11000,11000,11000,10319,Abnormal second toe morphology,HPO,phenotype,PHENOTYPE_11000
11001,11001,11001,11001,11001,11001,11001,11001,40022,Clinodactyly of the 2nd finger,HPO,phenotype,PHENOTYPE_11001
11002,11002,11002,11002,11002,11002,11002,11002,33745,Dysplasia of the superior cerebellar vermis,HPO,phenotype,PHENOTYPE_11002
11003,11003,11003,11003,11003,11003,11003,11003,5420,Recurrent gram-negative bacterial infections,HPO,phenotype,PHENOTYPE_11003
11004,11004,11004,11004,11004,11004,11004,11004,32910,Focal aware automatism seizure,HPO,phenotype,PHENOTYPE_11004
11005,11005,11005,11005,11005,11005,11005,11005,11744,Secondary hypercortisolism,HPO,phenotype,PHENOTYPE_11005
11006,11006,11006,11006,11006,11006,11006,11006,410010,Abnormality of somatic nerve plexus,HPO,phenotype,PHENOTYPE_11006
11007,11007,11007,11007,11007,11007,11007,11007,100210,Small epiphysis of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_11007
11008,11008,11008,11008,11008,11008,11008,11008,8715,Testicular dysgenesis,HPO,phenotype,PHENOTYPE_11008
11009,11009,11009,11009,11009,11009,11009,11009,6383,Progressive bowing of long bones,HPO,phenotype,PHENOTYPE_11009
11010,11010,11010,11010,11010,11010,11010,11010,6000267,Elevated circulating methionine sulfoxide concentration,HPO,phenotype,PHENOTYPE_11010
11011,11011,11011,11011,11011,11011,11011,11011,32766,Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration,HPO,phenotype,PHENOTYPE_11011
11012,11012,11012,11012,11012,11012,11012,11012,25399,Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT,HPO,phenotype,PHENOTYPE_11012
11013,11013,11013,11013,11013,11013,11013,11013,10490,Abnormality of the palmar creases,HPO,phenotype,PHENOTYPE_11013
11014,11014,11014,11014,11014,11014,11014,11014,11817,Basal encephalocele,HPO,phenotype,PHENOTYPE_11014
11015,11015,11015,11015,11015,11015,11015,11015,11268,Absent tragus,HPO,phenotype,PHENOTYPE_11015
11016,11016,11016,11016,11016,11016,11016,11016,31957,Spastic hemiparetic gait,HPO,phenotype,PHENOTYPE_11016
11017,11017,11017,11017,11017,11017,11017,11017,6000423,Beard and mustache distribution,HPO,phenotype,PHENOTYPE_11017
11018,11018,11018,11018,11018,11018,11018,11018,9406,Patchy sclerosis of 4th finger phalanx,HPO,phenotype,PHENOTYPE_11018
11019,11019,11019,11019,11019,11019,11019,11019,5200315,Amplification of relationship seeking,HPO,phenotype,PHENOTYPE_11019
11020,11020,11020,11020,11020,11020,11020,11020,4454,Abnormal middle ear reflexes,HPO,phenotype,PHENOTYPE_11020
11021,11021,11021,11021,11021,11021,11021,11021,34471,Increased fecal coproporphyrin III:coproporphyrin I ratio,HPO,phenotype,PHENOTYPE_11021
11022,11022,11022,11022,11022,11022,11022,11022,585,Band keratopathy,HPO,phenotype,PHENOTYPE_11022
11023,11023,11023,11023,11023,11023,11023,11023,6001028,Diminished glomerular basement membrane collagen IV alpha 4 chain staining,HPO,phenotype,PHENOTYPE_11023
11024,11024,11024,11024,11024,11024,11024,11024,4797,Multiple small bowel atresias,HPO,phenotype,PHENOTYPE_11024
11025,11025,11025,11025,11025,11025,11025,11025,6236,Slender metacarpals,HPO,phenotype,PHENOTYPE_11025
11026,11026,11026,11026,11026,11026,11026,11026,40408,Ameliorated by menopause,HPO,phenotype,PHENOTYPE_11026
11027,11027,11027,11027,11027,11027,11027,11027,1607,Subglottic stenosis,HPO,phenotype,PHENOTYPE_11027
11028,11028,11028,11028,11028,11028,11028,11028,410146,Elevated circulating biotinidase concentration,HPO,phenotype,PHENOTYPE_11028
11029,11029,11029,11029,11029,11029,11029,11029,5200215,Visceral hallucination,HPO,phenotype,PHENOTYPE_11029
11030,11030,11030,11030,11030,11030,11030,11030,100240,Synostosis of joints,HPO,phenotype,PHENOTYPE_11030
11031,11031,11031,11031,11031,11031,11031,11031,32449,Abnormal dermoepidermal hemidesmosome morphology,HPO,phenotype,PHENOTYPE_11031
11032,11032,11032,11032,11032,11032,11032,11032,500105,Decreased systolic blood pressure,HPO,phenotype,PHENOTYPE_11032
11033,11033,11033,11033,11033,11033,11033,11033,10201,Triangular shaped middle phalanges of the toes,HPO,phenotype,PHENOTYPE_11033
11034,11034,11034,11034,11034,11034,11034,11034,6051,Metacarpal periosteal thickening,HPO,phenotype,PHENOTYPE_11034
11035,11035,11035,11035,11035,11035,11035,11035,34856,Maternal amniocentesis,HPO,phenotype,PHENOTYPE_11035
11036,11036,11036,11036,11036,11036,11036,11036,12572,Ureter duplex,HPO,phenotype,PHENOTYPE_11036
11037,11037,11037,11037,11037,11037,11037,11037,32523,Tendon thickening,HPO,phenotype,PHENOTYPE_11037
11038,11038,11038,11038,11038,11038,11038,11038,3351,Decreased circulating renin concentration,HPO,phenotype,PHENOTYPE_11038
11039,11039,11039,11039,11039,11039,11039,11039,3311,Hypoplasia of the odontoid process,HPO,phenotype,PHENOTYPE_11039
11040,11040,11040,11040,11040,11040,11040,11040,25619,Elevated plasma cell count,HPO,phenotype,PHENOTYPE_11040
11041,11041,11041,11041,11041,11041,11041,11041,100744,Abnormality of the humeroradial joint,HPO,phenotype,PHENOTYPE_11041
11042,11042,11042,11042,11042,11042,11042,11042,34541,Reduced bone-marrow megakaryocyte size,HPO,phenotype,PHENOTYPE_11042
11043,11043,11043,11043,11043,11043,11043,11043,33867,Multilamellation of medullary peritubular capillary basement membranes,HPO,phenotype,PHENOTYPE_11043
11044,11044,11044,11044,11044,11044,11044,11044,100368,Short phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_11044
11045,11045,11045,11045,11045,11045,11045,11045,25491,Venous stenosis,HPO,phenotype,PHENOTYPE_11045
11046,11046,11046,11046,11046,11046,11046,11046,20059,Increased red blood cell count,HPO,phenotype,PHENOTYPE_11046
11047,11047,11047,11047,11047,11047,11047,11047,11114,Defective production of NFKB1-dependent cytokines,HPO,phenotype,PHENOTYPE_11047
11048,11048,11048,11048,11048,11048,11048,11048,30351,Urticarial plaque,HPO,phenotype,PHENOTYPE_11048
11049,11049,11049,11049,11049,11049,11049,11049,31320,Cardiomyocyte mitochondrial proliferation,HPO,phenotype,PHENOTYPE_11049
11050,11050,11050,11050,11050,11050,11050,11050,6000647,Bulging fontanelle,HPO,phenotype,PHENOTYPE_11050
11051,11051,11051,11051,11051,11051,11051,11051,410202,Positive stool barbiturate test,HPO,phenotype,PHENOTYPE_11051
11052,11052,11052,11052,11052,11052,11052,11052,4362,Abnormal enteric ganglion morphology,HPO,phenotype,PHENOTYPE_11052
11053,11053,11053,11053,11053,11053,11053,11053,31492,Epithelial neoplasm,HPO,phenotype,PHENOTYPE_11053
11054,11054,11054,11054,11054,11054,11054,11054,32556,Circumoral cyanosis,HPO,phenotype,PHENOTYPE_11054
11055,11055,11055,11055,11055,11055,11055,11055,4558,Cervical platyspondyly,HPO,phenotype,PHENOTYPE_11055
11056,11056,11056,11056,11056,11056,11056,11056,10742,Edema of the upper limbs,HPO,phenotype,PHENOTYPE_11056
11057,11057,11057,11057,11057,11057,11057,11057,33112,Elevated circulating apolipoprotein C-III concentration,HPO,phenotype,PHENOTYPE_11057
11058,11058,11058,11058,11058,11058,11058,11058,33767,Abnormal single motor unit action potential,HPO,phenotype,PHENOTYPE_11058
11059,11059,11059,11059,11059,11059,11059,11059,6000535,Elevated urinary porphyrin level,HPO,phenotype,PHENOTYPE_11059
11060,11060,11060,11060,11060,11060,11060,11060,100812,Halitosis,HPO,phenotype,PHENOTYPE_11060
11061,11061,11061,11061,11061,11061,11061,11061,32977,Elevated bronchoalveolar lavage fluid neutrophil proportion,HPO,phenotype,PHENOTYPE_11061
11062,11062,11062,11062,11062,11062,11062,11062,6000657,Pancreatic intraductal papillary mucinous neoplasm,HPO,phenotype,PHENOTYPE_11062
11063,11063,11063,11063,11063,11063,11063,11063,8265,Mitochondrial lysine transport defect,HPO,phenotype,PHENOTYPE_11063
11064,11064,11064,11064,11064,11064,11064,11064,10397,Bullet-shaped proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_11064
11065,11065,11065,11065,11065,11065,11065,11065,2929,Leydig cell insensitivity to gonadotropin,HPO,phenotype,PHENOTYPE_11065
11066,11066,11066,11066,11066,11066,11066,11066,30167,Antimitochondrial antibody positivity,HPO,phenotype,PHENOTYPE_11066
11067,11067,11067,11067,11067,11067,11067,11067,8229,Thyroid lymphangiectasia,HPO,phenotype,PHENOTYPE_11067
11068,11068,11068,11068,11068,11068,11068,11068,6000122,Increased urinary N-acetylglucosamine-rich oligosaccharide level,HPO,phenotype,PHENOTYPE_11068
11069,11069,11069,11069,11069,11069,11069,11069,100607,Dysmenorrhea,HPO,phenotype,PHENOTYPE_11069
11070,11070,11070,11070,11070,11070,11070,11070,9477,Proximal/middle symphalangism of 4th finger,HPO,phenotype,PHENOTYPE_11070
11071,11071,11071,11071,11071,11071,11071,11071,25644,Fixation-off epileptiform discharges,HPO,phenotype,PHENOTYPE_11071
11072,11072,11072,11072,11072,11072,11072,11072,6000271,Elevated circulating glycylproline concentration,HPO,phenotype,PHENOTYPE_11072
11073,11073,11073,11073,11073,11073,11073,11073,31099,Abnormal circulating inhibin level,HPO,phenotype,PHENOTYPE_11073
11074,11074,11074,11074,11074,11074,11074,11074,5198,Stiff interphalangeal joints,HPO,phenotype,PHENOTYPE_11074
11075,11075,11075,11075,11075,11075,11075,11075,45086,Knee joint hypermobility,HPO,phenotype,PHENOTYPE_11075
11076,11076,11076,11076,11076,11076,11076,11076,25074,Abnormal QRS complex,HPO,phenotype,PHENOTYPE_11076
11077,11077,11077,11077,11077,11077,11077,11077,34433,Distributed along skin tension lines,HPO,phenotype,PHENOTYPE_11077
11078,11078,11078,11078,11078,11078,11078,11078,410240,Abnormal circulating IgA concentration,HPO,phenotype,PHENOTYPE_11078
11079,11079,11079,11079,11079,11079,11079,11079,1874,Abnormality of neutrophils,HPO,phenotype,PHENOTYPE_11079
11080,11080,11080,11080,11080,11080,11080,11080,11344,Severe global developmental delay,HPO,phenotype,PHENOTYPE_11080
11081,11081,11081,11081,11081,11081,11081,11081,3874,Humerus varus,HPO,phenotype,PHENOTYPE_11081
11082,11082,11082,11082,11082,11082,11082,11082,5540,Red blood cell keratocytosis,HPO,phenotype,PHENOTYPE_11082
11083,11083,11083,11083,11083,11083,11083,11083,31042,Strawberry tongue,HPO,phenotype,PHENOTYPE_11083
11084,11084,11084,11084,11084,11084,11084,11084,25345,Abnormality of circulating beta-2-microglobulin level,HPO,phenotype,PHENOTYPE_11084
11085,11085,11085,11085,11085,11085,11085,11085,6000575,Reduced circulating 6-pyruvoyltetrahydropterin synthase activity,HPO,phenotype,PHENOTYPE_11085
11086,11086,11086,11086,11086,11086,11086,11086,100093,Abnormality of the epiphysis of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_11086
11087,11087,11087,11087,11087,11087,11087,11087,31295,Left atrial enlargement,HPO,phenotype,PHENOTYPE_11087
11088,11088,11088,11088,11088,11088,11088,11088,10788,Testicular neoplasm,HPO,phenotype,PHENOTYPE_11088
11089,11089,11089,11089,11089,11089,11089,11089,5200333,Addictive spending behavior,HPO,phenotype,PHENOTYPE_11089
11090,11090,11090,11090,11090,11090,11090,11090,5830,Flexion contracture of toe,HPO,phenotype,PHENOTYPE_11090
11091,11091,11091,11091,11091,11091,11091,11091,32081,Intralamellar mucoid extracellular matrix accumulation,HPO,phenotype,PHENOTYPE_11091
11092,11092,11092,11092,11092,11092,11092,11092,41193,Fractured epiphysis of first metatarsal bone,HPO,phenotype,PHENOTYPE_11092
11093,11093,11093,11093,11093,11093,11093,11093,32835,Neonatal seizure with bilateral symmetric automatism,HPO,phenotype,PHENOTYPE_11093
11094,11094,11094,11094,11094,11094,11094,11094,3998,Constricted radial neck,HPO,phenotype,PHENOTYPE_11094
11095,11095,11095,11095,11095,11095,11095,11095,7676,Hypoplasia of the iris,HPO,phenotype,PHENOTYPE_11095
11096,11096,11096,11096,11096,11096,11096,11096,25220,Triggered by menstruation,HPO,phenotype,PHENOTYPE_11096
11097,11097,11097,11097,11097,11097,11097,11097,100943,Sclerosis of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_11097
11098,11098,11098,11098,11098,11098,11098,11098,30233,Bethlem sign,HPO,phenotype,PHENOTYPE_11098
11099,11099,11099,11099,11099,11099,11099,11099,100085,Small epiphyses of the 5th toe,HPO,phenotype,PHENOTYPE_11099
11100,11100,11100,11100,11100,11100,11100,11100,31699,Disseminated cryptosporidium infection,HPO,phenotype,PHENOTYPE_11100
11101,11101,11101,11101,11101,11101,11101,11101,3043,Abnormal shoulder morphology,HPO,phenotype,PHENOTYPE_11101
11102,11102,11102,11102,11102,11102,11102,11102,10748,Ectopic lacrimal punctum,HPO,phenotype,PHENOTYPE_11102
11103,11103,11103,11103,11103,11103,11103,11103,25035,Abnormal proerythroblast morphology,HPO,phenotype,PHENOTYPE_11103
11104,11104,11104,11104,11104,11104,11104,11104,31356,Terminal insomnia,HPO,phenotype,PHENOTYPE_11104
11105,11105,11105,11105,11105,11105,11105,11105,100526,Neoplasm of the lung,HPO,phenotype,PHENOTYPE_11105
11106,11106,11106,11106,11106,11106,11106,11106,11881,Decreased platelet glycoprotein VI,HPO,phenotype,PHENOTYPE_11106
11107,11107,11107,11107,11107,11107,11107,11107,11281,Abnormality of urine catecholamine level,HPO,phenotype,PHENOTYPE_11107
11108,11108,11108,11108,11108,11108,11108,11108,9205,Cone-shaped epiphysis of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_11108
11109,11109,11109,11109,11109,11109,11109,11109,9056,Loss of subcutaneous adipose tissue from upper limbs,HPO,phenotype,PHENOTYPE_11109
11110,11110,11110,11110,11110,11110,11110,11110,775,Abnormality of the diaphragm,HPO,phenotype,PHENOTYPE_11110
11111,11111,11111,11111,11111,11111,11111,11111,6000189,Decreased circulating ficolin 3 concentration,HPO,phenotype,PHENOTYPE_11111
11112,11112,11112,11112,11112,11112,11112,11112,3947,Delayed elbow epiphyseal ossification,HPO,phenotype,PHENOTYPE_11112
11113,11113,11113,11113,11113,11113,11113,11113,9886,Trichorrhexis nodosa,HPO,phenotype,PHENOTYPE_11113
11114,11114,11114,11114,11114,11114,11114,11114,6000061,Vaginal passage of hydatidiform mole tissue,HPO,phenotype,PHENOTYPE_11114
11115,11115,11115,11115,11115,11115,11115,11115,25453,Delayed adrenarche,HPO,phenotype,PHENOTYPE_11115
11116,11116,11116,11116,11116,11116,11116,11116,20166,Central retinal vein occlusion,HPO,phenotype,PHENOTYPE_11116
11117,11117,11117,11117,11117,11117,11117,11117,9971,Polydactyly affecting the 4th finger,HPO,phenotype,PHENOTYPE_11117
11118,11118,11118,11118,11118,11118,11118,11118,410006,Abnormality of ophthalmic artery,HPO,phenotype,PHENOTYPE_11118
11119,11119,11119,11119,11119,11119,11119,11119,12036,Sternocleidomastoid amyotrophy,HPO,phenotype,PHENOTYPE_11119
11120,11120,11120,11120,11120,11120,11120,11120,11373,Incomplete partition of the cochlea,HPO,phenotype,PHENOTYPE_11120
11121,11121,11121,11121,11121,11121,11121,11121,8041,Late onset congenital glaucoma,HPO,phenotype,PHENOTYPE_11121
11122,11122,11122,11122,11122,11122,11122,11122,500023,Shoulder muscle aplasia,HPO,phenotype,PHENOTYPE_11122
11123,11123,11123,11123,11123,11123,11123,11123,12892,Facial muscle hypertrophy,HPO,phenotype,PHENOTYPE_11123
11124,11124,11124,11124,11124,11124,11124,11124,1084,Corneal arcus,HPO,phenotype,PHENOTYPE_11124
11125,11125,11125,11125,11125,11125,11125,11125,410364,Decreased monosialylated core 1 O-glycan level,HPO,phenotype,PHENOTYPE_11125
11126,11126,11126,11126,11126,11126,11126,11126,7023,Antenatal intracerebral hemorrhage,HPO,phenotype,PHENOTYPE_11126
11127,11127,11127,11127,11127,11127,11127,11127,20247,Non-polarized lymph node germinal centers,HPO,phenotype,PHENOTYPE_11127
11128,11128,11128,11128,11128,11128,11128,11128,6000392,Elevated urinary methylmalonylcarnitine level,HPO,phenotype,PHENOTYPE_11128
11129,11129,11129,11129,11129,11129,11129,11129,366,Abnormality of the nose,HPO,phenotype,PHENOTYPE_11129
11130,11130,11130,11130,11130,11130,11130,11130,32220,Interface hepatitis,HPO,phenotype,PHENOTYPE_11130
11131,11131,11131,11131,11131,11131,11131,11131,2439,Frontolimbic dementia,HPO,phenotype,PHENOTYPE_11131
11132,11132,11132,11132,11132,11132,11132,11132,12586,Bilateral renal atrophy,HPO,phenotype,PHENOTYPE_11132
11133,11133,11133,11133,11133,11133,11133,11133,9172,Abnormal 4th finger phalanx morphology,HPO,phenotype,PHENOTYPE_11133
11134,11134,11134,11134,11134,11134,11134,11134,3889,Abnormal deltoid tuberosity morphology,HPO,phenotype,PHENOTYPE_11134
11135,11135,11135,11135,11135,11135,11135,11135,20270,Cytologic atypia in mantle cells,HPO,phenotype,PHENOTYPE_11135
11136,11136,11136,11136,11136,11136,11136,11136,5561,Abnormal bone marrow cell morphology,HPO,phenotype,PHENOTYPE_11136
11137,11137,11137,11137,11137,11137,11137,11137,4689,Short fourth metatarsal,HPO,phenotype,PHENOTYPE_11137
11138,11138,11138,11138,11138,11138,11138,11138,11882,Decreased platelet P2Y12 receptor,HPO,phenotype,PHENOTYPE_11138
11139,11139,11139,11139,11139,11139,11139,11139,33910,Arcuate vein medial atrophy,HPO,phenotype,PHENOTYPE_11139
11140,11140,11140,11140,11140,11140,11140,11140,12127,Uraciluria,HPO,phenotype,PHENOTYPE_11140
11141,11141,11141,11141,11141,11141,11141,11141,8666,Impaired histidine renal tubular absorption,HPO,phenotype,PHENOTYPE_11141
11142,11142,11142,11142,11142,11142,11142,11142,4021,Lytic defects of radial metaphysis,HPO,phenotype,PHENOTYPE_11142
11143,11143,11143,11143,11143,11143,11143,11143,1894,Thrombocytosis,HPO,phenotype,PHENOTYPE_11143
11144,11144,11144,11144,11144,11144,11144,11144,10930,Abnormal blood monovalent inorganic cation concentration,HPO,phenotype,PHENOTYPE_11144
11145,11145,11145,11145,11145,11145,11145,11145,500193,Increased CSF isoleucine concentration,HPO,phenotype,PHENOTYPE_11145
11146,11146,11146,11146,11146,11146,11146,11146,32478,Lateral spinal meningocele,HPO,phenotype,PHENOTYPE_11146
11147,11147,11147,11147,11147,11147,11147,11147,9418,Small epiphyses of the 3rd finger,HPO,phenotype,PHENOTYPE_11147
11148,11148,11148,11148,11148,11148,11148,11148,100905,Sclerosis of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_11148
11149,11149,11149,11149,11149,11149,11149,11149,20150,Elevated urinary uromodulin level,HPO,phenotype,PHENOTYPE_11149
11150,11150,11150,11150,11150,11150,11150,11150,31516,Oocyte arrest at metaphase I,HPO,phenotype,PHENOTYPE_11150
11151,11151,11151,11151,11151,11151,11151,11151,25660,Chiari type II malformation,HPO,phenotype,PHENOTYPE_11151
11152,11152,11152,11152,11152,11152,11152,11152,45044,Decreased circulating complement C4b concentration,HPO,phenotype,PHENOTYPE_11152
11153,11153,11153,11153,11153,11153,11153,11153,6000718,Decreased liver bile salt export pump expression,HPO,phenotype,PHENOTYPE_11153
11154,11154,11154,11154,11154,11154,11154,11154,34038,Silent hypoxemia,HPO,phenotype,PHENOTYPE_11154
11155,11155,11155,11155,11155,11155,11155,11155,30273,Reduced red cell adenosine deaminase level,HPO,phenotype,PHENOTYPE_11155
11156,11156,11156,11156,11156,11156,11156,11156,31443,Abnormal tricuspid valve leaflet morphology,HPO,phenotype,PHENOTYPE_11156
11157,11157,11157,11157,11157,11157,11157,11157,40055,Short lower eyelashes,HPO,phenotype,PHENOTYPE_11157
11158,11158,11158,11158,11158,11158,11158,11158,3951,Distal humeral metaphyseal irregularity,HPO,phenotype,PHENOTYPE_11158
11159,11159,11159,11159,11159,11159,11159,11159,200028,Pretibial myxedema,HPO,phenotype,PHENOTYPE_11159
11160,11160,11160,11160,11160,11160,11160,11160,10723,Cystic lesions of the pinnae,HPO,phenotype,PHENOTYPE_11160
11161,11161,11161,11161,11161,11161,11161,11161,952,Jaundice,HPO,phenotype,PHENOTYPE_11161
11162,11162,11162,11162,11162,11162,11162,11162,6001037,Punctate pontine perivascular enhancement,HPO,phenotype,PHENOTYPE_11162
11163,11163,11163,11163,11163,11163,11163,11163,8555,Absent vestibular function,HPO,phenotype,PHENOTYPE_11163
11164,11164,11164,11164,11164,11164,11164,11164,7680,Depigmented fundus,HPO,phenotype,PHENOTYPE_11164
11165,11165,11165,11165,11165,11165,11165,11165,2586,Peritonitis,HPO,phenotype,PHENOTYPE_11165
11166,11166,11166,11166,11166,11166,11166,11166,651,Diplopia,HPO,phenotype,PHENOTYPE_11166
11167,11167,11167,11167,11167,11167,11167,11167,410397,Bronchiolectasis,HPO,phenotype,PHENOTYPE_11167
11168,11168,11168,11168,11168,11168,11168,11168,12260,Abnormal central microtubular pair morphology of respiratory motile cilia,HPO,phenotype,PHENOTYPE_11168
11169,11169,11169,11169,11169,11169,11169,11169,41092,Emotional hypersensitivity,HPO,phenotype,PHENOTYPE_11169
11170,11170,11170,11170,11170,11170,11170,11170,133,Gonadal dysgenesis,HPO,phenotype,PHENOTYPE_11170
11171,11171,11171,11171,11171,11171,11171,11171,410335,Insect allergy,HPO,phenotype,PHENOTYPE_11171
11172,11172,11172,11172,11172,11172,11172,11172,31349,Levotransposition of the great arteries,HPO,phenotype,PHENOTYPE_11172
11173,11173,11173,11173,11173,11173,11173,11173,34239,Renal vein thrombosis,HPO,phenotype,PHENOTYPE_11173
11174,11174,11174,11174,11174,11174,11174,11174,6000787,Basilar artery fenestration,HPO,phenotype,PHENOTYPE_11174
11175,11175,11175,11175,11175,11175,11175,11175,33312,Abnormal Bowman space morphology,HPO,phenotype,PHENOTYPE_11175
11176,11176,11176,11176,11176,11176,11176,11176,12182,Oropharyngeal squamous cell carcinoma,HPO,phenotype,PHENOTYPE_11176
11177,11177,11177,11177,11177,11177,11177,11177,12904,Cold-sensitive myotonia,HPO,phenotype,PHENOTYPE_11177
11178,11178,11178,11178,11178,11178,11178,11178,100431,Broad distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_11178
11179,11179,11179,11179,11179,11179,11179,11179,34454,Arachnoid granulation,HPO,phenotype,PHENOTYPE_11179
11180,11180,11180,11180,11180,11180,11180,11180,32961,Magnesium ammonium phosphate crystalluria,HPO,phenotype,PHENOTYPE_11180
11181,11181,11181,11181,11181,11181,11181,11181,11199,EEG with generalized sharp slow waves,HPO,phenotype,PHENOTYPE_11181
11182,11182,11182,11182,11182,11182,11182,11182,9762,Facial wrinkling,HPO,phenotype,PHENOTYPE_11182
11183,11183,11183,11183,11183,11183,11183,11183,33116,Duodenal gastric metaplasia,HPO,phenotype,PHENOTYPE_11183
11184,11184,11184,11184,11184,11184,11184,11184,8425,Cuboid-shaped thoracolumbar vertebral bodies,HPO,phenotype,PHENOTYPE_11184
11185,11185,11185,11185,11185,11185,11185,11185,33834,Malaise,HPO,phenotype,PHENOTYPE_11185
11186,11186,11186,11186,11186,11186,11186,11186,5640,Abnormal vertebral segmentation and fusion,HPO,phenotype,PHENOTYPE_11186
11187,11187,11187,11187,11187,11187,11187,11187,8102,Expanded metatarsals with widened medullary cavities,HPO,phenotype,PHENOTYPE_11187
11188,11188,11188,11188,11188,11188,11188,11188,8756,Bowing of the vocal cords,HPO,phenotype,PHENOTYPE_11188
11189,11189,11189,11189,11189,11189,11189,11189,2639,Budd-Chiari syndrome,HPO,phenotype,PHENOTYPE_11189
11190,11190,11190,11190,11190,11190,11190,11190,4461,Congenital earlobe sinuses,HPO,phenotype,PHENOTYPE_11190
11191,11191,11191,11191,11191,11191,11191,11191,10818,Generalized tonic seizure,HPO,phenotype,PHENOTYPE_11191
11192,11192,11192,11192,11192,11192,11192,11192,40187,Neonatal sepsis,HPO,phenotype,PHENOTYPE_11192
11193,11193,11193,11193,11193,11193,11193,11193,9492,Fragmentation of the epiphyses of the 2nd finger,HPO,phenotype,PHENOTYPE_11193
11194,11194,11194,11194,11194,11194,11194,11194,3871,Deformed humerus,HPO,phenotype,PHENOTYPE_11194
11195,11195,11195,11195,11195,11195,11195,11195,6873,Symmetrical progressive peripheral demyelination,HPO,phenotype,PHENOTYPE_11195
11196,11196,11196,11196,11196,11196,11196,11196,30377,Increased proportion of immature B cells,HPO,phenotype,PHENOTYPE_11196
11197,11197,11197,11197,11197,11197,11197,11197,32127,Abnormal plasmablast proportion,HPO,phenotype,PHENOTYPE_11197
11198,11198,11198,11198,11198,11198,11198,11198,7110,Central hypoventilation,HPO,phenotype,PHENOTYPE_11198
11199,11199,11199,11199,11199,11199,11199,11199,25711,Convergence-retraction nystagmus,HPO,phenotype,PHENOTYPE_11199
11200,11200,11200,11200,11200,11200,11200,11200,6000329,Umbilical cord prolapse,HPO,phenotype,PHENOTYPE_11200
11201,11201,11201,11201,11201,11201,11201,11201,31854,Left Isomerism,HPO,phenotype,PHENOTYPE_11201
11202,11202,11202,11202,11202,11202,11202,11202,100544,Neoplasm of the heart,HPO,phenotype,PHENOTYPE_11202
11203,11203,11203,11203,11203,11203,11203,11203,410257,Neutrophilia in presence of infection,HPO,phenotype,PHENOTYPE_11203
11204,11204,11204,11204,11204,11204,11204,11204,31872,Absent Birbeck granules in Langerhans cells,HPO,phenotype,PHENOTYPE_11204
11205,11205,11205,11205,11205,11205,11205,11205,6817,Aplasia/Hypoplasia of the cerebellar vermis,HPO,phenotype,PHENOTYPE_11205
11206,11206,11206,11206,11206,11206,11206,11206,12850,Small intestinal dysmotility,HPO,phenotype,PHENOTYPE_11206
11207,11207,11207,11207,11207,11207,11207,11207,34705,Pulmonary vasculitis,HPO,phenotype,PHENOTYPE_11207
11208,11208,11208,11208,11208,11208,11208,11208,5853,Congenital foot contraction deformities,HPO,phenotype,PHENOTYPE_11208
11209,11209,11209,11209,11209,11209,11209,11209,34073,Reduced fetal long bone echogenicity,HPO,phenotype,PHENOTYPE_11209
11210,11210,11210,11210,11210,11210,11210,11210,11704,Sick sinus syndrome,HPO,phenotype,PHENOTYPE_11210
11211,11211,11211,11211,11211,11211,11211,11211,11229,Broad eyebrow,HPO,phenotype,PHENOTYPE_11211
11212,11212,11212,11212,11212,11212,11212,11212,11513,Retinal cavernous hemangioma,HPO,phenotype,PHENOTYPE_11212
11213,11213,11213,11213,11213,11213,11213,11213,430017,Abnormality of uvular muscle,HPO,phenotype,PHENOTYPE_11213
11214,11214,11214,11214,11214,11214,11214,11214,30253,Defective T cell proliferation,HPO,phenotype,PHENOTYPE_11214
11215,11215,11215,11215,11215,11215,11215,11215,12568,Lower eyelid edema,HPO,phenotype,PHENOTYPE_11215
11216,11216,11216,11216,11216,11216,11216,11216,410393,"Increased proportion of central memory CD4-positive, alpha-beta T cells",HPO,phenotype,PHENOTYPE_11216
11217,11217,11217,11217,11217,11217,11217,11217,5000021,Anti-Ma antibody positivity,HPO,phenotype,PHENOTYPE_11217
11218,11218,11218,11218,11218,11218,11218,11218,2761,Generalized joint hypermobility,HPO,phenotype,PHENOTYPE_11218
11219,11219,11219,11219,11219,11219,11219,11219,4341,Abnormality of vitamin B12 metabolism,HPO,phenotype,PHENOTYPE_11219
11220,11220,11220,11220,11220,11220,11220,11220,30014,Female sexual dysfunction,HPO,phenotype,PHENOTYPE_11220
11221,11221,11221,11221,11221,11221,11221,11221,12709,Abnormal brain choline/creatine ratio by MRS,HPO,phenotype,PHENOTYPE_11221
11222,11222,11222,11222,11222,11222,11222,11222,100127,Irregular epiphysis of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_11222
11223,11223,11223,11223,11223,11223,11223,11223,9319,Joint contracture of the 3rd finger,HPO,phenotype,PHENOTYPE_11223
11224,11224,11224,11224,11224,11224,11224,11224,100299,Muscle fiber inclusion bodies,HPO,phenotype,PHENOTYPE_11224
11225,11225,11225,11225,11225,11225,11225,11225,6527,Lymphocytic interstitial pneumonia,HPO,phenotype,PHENOTYPE_11225
11226,11226,11226,11226,11226,11226,11226,11226,9680,Irregular epiphysis of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_11226
11227,11227,11227,11227,11227,11227,11227,11227,33182,Increased circulating cathepsin D level,HPO,phenotype,PHENOTYPE_11227
11228,11228,11228,11228,11228,11228,11228,11228,272,Malar flattening,HPO,phenotype,PHENOTYPE_11228
11229,11229,11229,11229,11229,11229,11229,11229,32730,Focal impaired awareness myoclonic seizure,HPO,phenotype,PHENOTYPE_11229
11230,11230,11230,11230,11230,11230,11230,11230,10073,Synostosis involving the 1st metatarsal,HPO,phenotype,PHENOTYPE_11230
11231,11231,11231,11231,11231,11231,11231,11231,6711,Aplasia/Hypoplasia involving bones of the thorax,HPO,phenotype,PHENOTYPE_11231
11232,11232,11232,11232,11232,11232,11232,11232,11864,Elevated plasma pyrophosphate,HPO,phenotype,PHENOTYPE_11232
11233,11233,11233,11233,11233,11233,11233,11233,32788,Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole,HPO,phenotype,PHENOTYPE_11233
11234,11234,11234,11234,11234,11234,11234,11234,1126,Cryptophthalmos,HPO,phenotype,PHENOTYPE_11234
11235,11235,11235,11235,11235,11235,11235,11235,4000112,Medication history,HPO,phenotype,PHENOTYPE_11235
11236,11236,11236,11236,11236,11236,11236,11236,10724,Advanced pneumatization of the mastoid process,HPO,phenotype,PHENOTYPE_11236
11237,11237,11237,11237,11237,11237,11237,11237,6929,Hypoglycemic encephalopathy,HPO,phenotype,PHENOTYPE_11237
11238,11238,11238,11238,11238,11238,11238,11238,2118,Abnormal cerebral ventricle morphology,HPO,phenotype,PHENOTYPE_11238
11239,11239,11239,11239,11239,11239,11239,11239,5000046,Anti-Lrp4 antibody positivity,HPO,phenotype,PHENOTYPE_11239
11240,11240,11240,11240,11240,11240,11240,11240,9689,Enlarged thumb epiphysis,HPO,phenotype,PHENOTYPE_11240
11241,11241,11241,11241,11241,11241,11241,11241,1468,Aplasia/Hypoplasia involving the musculature of the upper arm,HPO,phenotype,PHENOTYPE_11241
11242,11242,11242,11242,11242,11242,11242,11242,9780,Iliac horns,HPO,phenotype,PHENOTYPE_11242
11243,11243,11243,11243,11243,11243,11243,11243,7361,Abnormal pons morphology,HPO,phenotype,PHENOTYPE_11243
11244,11244,11244,11244,11244,11244,11244,11244,157,Abnormality of the tongue,HPO,phenotype,PHENOTYPE_11244
11245,11245,11245,11245,11245,11245,11245,11245,7935,Juvenile posterior subcapsular lenticular opacities,HPO,phenotype,PHENOTYPE_11245
11246,11246,11246,11246,11246,11246,11246,11246,33535,Reduced platelet dense granules,HPO,phenotype,PHENOTYPE_11246
11247,11247,11247,11247,11247,11247,11247,11247,9446,Triangular shaped phalanges of the 3rd finger,HPO,phenotype,PHENOTYPE_11247
11248,11248,11248,11248,11248,11248,11248,11248,4000078,Fixated interest with abnormal intensity,HPO,phenotype,PHENOTYPE_11248
11249,11249,11249,11249,11249,11249,11249,11249,33797,Leukocyte migration defect,HPO,phenotype,PHENOTYPE_11249
11250,11250,11250,11250,11250,11250,11250,11250,30810,Abnormal tongue physiology,HPO,phenotype,PHENOTYPE_11250
11251,11251,11251,11251,11251,11251,11251,11251,30778,Modic type III vertebral endplate changes,HPO,phenotype,PHENOTYPE_11251
11252,11252,11252,11252,11252,11252,11252,11252,1363,Craniosynostosis,HPO,phenotype,PHENOTYPE_11252
11253,11253,11253,11253,11253,11253,11253,11253,31469,Low self-esteem,HPO,phenotype,PHENOTYPE_11253
11254,11254,11254,11254,11254,11254,11254,11254,9109,Denervation of the diaphragm,HPO,phenotype,PHENOTYPE_11254
11255,11255,11255,11255,11255,11255,11255,11255,6000979,Reduced hepatic glycogen phosphorylase activity,HPO,phenotype,PHENOTYPE_11255
11256,11256,11256,11256,11256,11256,11256,11256,34831,Pancreatic hamartoma,HPO,phenotype,PHENOTYPE_11256
11257,11257,11257,11257,11257,11257,11257,11257,20213,Somatosensory-induced seizure,HPO,phenotype,PHENOTYPE_11257
11258,11258,11258,11258,11258,11258,11258,11258,10085,Aplasia/Hypoplasia of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_11258
11259,11259,11259,11259,11259,11259,11259,11259,1414,Microvesicular hepatic steatosis,HPO,phenotype,PHENOTYPE_11259
11260,11260,11260,11260,11260,11260,11260,11260,6000435,Elevated circulating alpha-ketoglutarate concentration,HPO,phenotype,PHENOTYPE_11260
11261,11261,11261,11261,11261,11261,11261,11261,6000318,Elevated aldosterone:renin ratio,HPO,phenotype,PHENOTYPE_11261
11262,11262,11262,11262,11262,11262,11262,11262,32764,Focal autonomic seizure with erection,HPO,phenotype,PHENOTYPE_11262
11263,11263,11263,11263,11263,11263,11263,11263,32969,Traction bronchiectasis,HPO,phenotype,PHENOTYPE_11263
11264,11264,11264,11264,11264,11264,11264,11264,500188,Decreased CSF valine concentration,HPO,phenotype,PHENOTYPE_11264
11265,11265,11265,11265,11265,11265,11265,11265,20130,Increased urinary neutrophil gelatinase-associated lipocalin,HPO,phenotype,PHENOTYPE_11265
11266,11266,11266,11266,11266,11266,11266,11266,12239,Atransferrinemia,HPO,phenotype,PHENOTYPE_11266
11267,11267,11267,11267,11267,11267,11267,11267,7990,Hypoplastic iris stroma,HPO,phenotype,PHENOTYPE_11267
11268,11268,11268,11268,11268,11268,11268,11268,12707,Elevated brain lactate level by MRS,HPO,phenotype,PHENOTYPE_11268
11269,11269,11269,11269,11269,11269,11269,11269,10393,Abnormality of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_11269
11270,11270,11270,11270,11270,11270,11270,11270,33518,Addictive methylphenidate use,HPO,phenotype,PHENOTYPE_11270
11271,11271,11271,11271,11271,11271,11271,11271,5200304,Short N1 sleep,HPO,phenotype,PHENOTYPE_11271
11272,11272,11272,11272,11272,11272,11272,11272,3250,Aplasia of the vagina,HPO,phenotype,PHENOTYPE_11272
11273,11273,11273,11273,11273,11273,11273,11273,12351,Increased sialylation of N-linked protein glycosylation,HPO,phenotype,PHENOTYPE_11273
11274,11274,11274,11274,11274,11274,11274,11274,9679,Fragmentation of the epiphysis of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_11274
11275,11275,11275,11275,11275,11275,11275,11275,31057,Skin fissure,HPO,phenotype,PHENOTYPE_11275
11276,11276,11276,11276,11276,11276,11276,11276,12453,Bilateral wrist flexion contracture,HPO,phenotype,PHENOTYPE_11276
11277,11277,11277,11277,11277,11277,11277,11277,11692,Supraventricular tachycardia with a concealed accessory pathway on the right free wall,HPO,phenotype,PHENOTYPE_11277
11278,11278,11278,11278,11278,11278,11278,11278,34495,Elevated brain glutamine level by MRS,HPO,phenotype,PHENOTYPE_11278
11279,11279,11279,11279,11279,11279,11279,11279,10652,Abnormal dura mater morphology,HPO,phenotype,PHENOTYPE_11279
11280,11280,11280,11280,11280,11280,11280,11280,32926,Focal impaired awareness head nodding automatism seizure,HPO,phenotype,PHENOTYPE_11280
11281,11281,11281,11281,11281,11281,11281,11281,430002,Abnormal lacrimal bone morphology,HPO,phenotype,PHENOTYPE_11281
11282,11282,11282,11282,11282,11282,11282,11282,4037,Abnormal ulnar epiphysis morphology,HPO,phenotype,PHENOTYPE_11282
11283,11283,11283,11283,11283,11283,11283,11283,20186,Multilobulated spleen,HPO,phenotype,PHENOTYPE_11283
11284,11284,11284,11284,11284,11284,11284,11284,34508,Fingerprint bodies,HPO,phenotype,PHENOTYPE_11284
11285,11285,11285,11285,11285,11285,11285,11285,6000224,Delayed passage of meconium,HPO,phenotype,PHENOTYPE_11285
11286,11286,11286,11286,11286,11286,11286,11286,31761,Infantile constant esotropia,HPO,phenotype,PHENOTYPE_11286
11287,11287,11287,11287,11287,11287,11287,11287,11532,Subretinal exudate,HPO,phenotype,PHENOTYPE_11287
11288,11288,11288,11288,11288,11288,11288,11288,33300,Increased circulating complement factor H related protein 1 concentration,HPO,phenotype,PHENOTYPE_11288
11289,11289,11289,11289,11289,11289,11289,11289,31186,Abnormal circulating deoxycorticosterone level,HPO,phenotype,PHENOTYPE_11289
11290,11290,11290,11290,11290,11290,11290,11290,1265,Hyporeflexia,HPO,phenotype,PHENOTYPE_11290
11291,11291,11291,11291,11291,11291,11291,11291,6000368,Sonographic renal salt and pepper pattern,HPO,phenotype,PHENOTYPE_11291
11292,11292,11292,11292,11292,11292,11292,11292,45018,Partial duplication of eyebrows,HPO,phenotype,PHENOTYPE_11292
11293,11293,11293,11293,11293,11293,11293,11293,31801,Vocal cord dysfunction,HPO,phenotype,PHENOTYPE_11293
11294,11294,11294,11294,11294,11294,11294,11294,30161,Vaginal pruritus,HPO,phenotype,PHENOTYPE_11294
11295,11295,11295,11295,11295,11295,11295,11295,5096,Distal femoral bowing,HPO,phenotype,PHENOTYPE_11295
11296,11296,11296,11296,11296,11296,11296,11296,32797,Focal aware sensory seizure with olfactory features,HPO,phenotype,PHENOTYPE_11296
11297,11297,11297,11297,11297,11297,11297,11297,4223,Ivory epiphysis of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_11297
11298,11298,11298,11298,11298,11298,11298,11298,200039,Pustule,HPO,phenotype,PHENOTYPE_11298
11299,11299,11299,11299,11299,11299,11299,11299,32856,Focal aware bilateral motor seizure,HPO,phenotype,PHENOTYPE_11299
11300,11300,11300,11300,11300,11300,11300,11300,1310,Dysmetria,HPO,phenotype,PHENOTYPE_11300
11301,11301,11301,11301,11301,11301,11301,11301,31869,Recurrent joint dislocation,HPO,phenotype,PHENOTYPE_11301
11302,11302,11302,11302,11302,11302,11302,11302,4321,Bladder fistula,HPO,phenotype,PHENOTYPE_11302
11303,11303,11303,11303,11303,11303,11303,11303,31605,Abnormality of fundus pigmentation,HPO,phenotype,PHENOTYPE_11303
11304,11304,11304,11304,11304,11304,11304,11304,30981,Abnormal CSF/serum albumin ratio,HPO,phenotype,PHENOTYPE_11304
11305,11305,11305,11305,11305,11305,11305,11305,11006,Abnormal morphology of the musculature of the neck,HPO,phenotype,PHENOTYPE_11305
11306,11306,11306,11306,11306,11306,11306,11306,8997,Proximal muscle weakness in upper limbs,HPO,phenotype,PHENOTYPE_11306
11307,11307,11307,11307,11307,11307,11307,11307,31562,Balanced double aortic arch,HPO,phenotype,PHENOTYPE_11307
11308,11308,11308,11308,11308,11308,11308,11308,9895,Abnormality of the crus of the helix,HPO,phenotype,PHENOTYPE_11308
11309,11309,11309,11309,11309,11309,11309,11309,33752,Abnormal residual volume,HPO,phenotype,PHENOTYPE_11309
11310,11310,11310,11310,11310,11310,11310,11310,6000128,Elevated urinary thymidine level,HPO,phenotype,PHENOTYPE_11310
11311,11311,11311,11311,11311,11311,11311,11311,4000024,Anti-laminin antibody positivity,HPO,phenotype,PHENOTYPE_11311
11312,11312,11312,11312,11312,11312,11312,11312,30909,Anti-liver cytosolic antigen type 1 antibody positivity,HPO,phenotype,PHENOTYPE_11312
11313,11313,11313,11313,11313,11313,11313,11313,30583,Pinhole visual acuity 3.0 LogMAR,HPO,phenotype,PHENOTYPE_11313
11314,11314,11314,11314,11314,11314,11314,11314,3651,Foam cells,HPO,phenotype,PHENOTYPE_11314
11315,11315,11315,11315,11315,11315,11315,11315,11246,Underdeveloped superior crus of antihelix,HPO,phenotype,PHENOTYPE_11315
11316,11316,11316,11316,11316,11316,11316,11316,3093,Limited hip extension,HPO,phenotype,PHENOTYPE_11316
11317,11317,11317,11317,11317,11317,11317,11317,1220,Interphalangeal joint contracture of finger,HPO,phenotype,PHENOTYPE_11317
11318,11318,11318,11318,11318,11318,11318,11318,1361,Nystagmus-induced head nodding,HPO,phenotype,PHENOTYPE_11318
11319,11319,11319,11319,11319,11319,11319,11319,25377,Triggered by exertion,HPO,phenotype,PHENOTYPE_11319
11320,11320,11320,11320,11320,11320,11320,11320,6894,Hypoplastic olfactory lobes,HPO,phenotype,PHENOTYPE_11320
11321,11321,11321,11321,11321,11321,11321,11321,135,Hypogonadism,HPO,phenotype,PHENOTYPE_11321
11322,11322,11322,11322,11322,11322,11322,11322,2894,Neoplasm of the pancreas,HPO,phenotype,PHENOTYPE_11322
11323,11323,11323,11323,11323,11323,11323,11323,33751,Elevated functional residual capacity,HPO,phenotype,PHENOTYPE_11323
11324,11324,11324,11324,11324,11324,11324,11324,30493,Abnormality of foveal pigmentation,HPO,phenotype,PHENOTYPE_11324
11325,11325,11325,11325,11325,11325,11325,11325,11562,Straddling atrioventricular valve,HPO,phenotype,PHENOTYPE_11325
11326,11326,11326,11326,11326,11326,11326,11326,100434,Bullet-shaped middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_11326
11327,11327,11327,11327,11327,11327,11327,11327,10069,Bullet-shaped 1st metatarsal,HPO,phenotype,PHENOTYPE_11327
11328,11328,11328,11328,11328,11328,11328,11328,6000642,Sunflower cataract,HPO,phenotype,PHENOTYPE_11328
11329,11329,11329,11329,11329,11329,11329,11329,12900,Myotonia of the face,HPO,phenotype,PHENOTYPE_11329
11330,11330,11330,11330,11330,11330,11330,11330,4027,Abnormality of radial diaphysis,HPO,phenotype,PHENOTYPE_11330
11331,11331,11331,11331,11331,11331,11331,11331,9450,Broad proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_11331
11332,11332,11332,11332,11332,11332,11332,11332,30008,Cervical agenesis,HPO,phenotype,PHENOTYPE_11332
11333,11333,11333,11333,11333,11333,11333,11333,500070,Conjunctival dermolipoma,HPO,phenotype,PHENOTYPE_11333
11334,11334,11334,11334,11334,11334,11334,11334,32560,Coiled sperm flagella,HPO,phenotype,PHENOTYPE_11334
11335,11335,11335,11335,11335,11335,11335,11335,6000768,Echophenomenon,HPO,phenotype,PHENOTYPE_11335
11336,11336,11336,11336,11336,11336,11336,11336,5659,Thoracic kyphoscoliosis,HPO,phenotype,PHENOTYPE_11336
11337,11337,11337,11337,11337,11337,11337,11337,4305,Involuntary movements,HPO,phenotype,PHENOTYPE_11337
11338,11338,11338,11338,11338,11338,11338,11338,40403,Breast microcalcification,HPO,phenotype,PHENOTYPE_11338
11339,11339,11339,11339,11339,11339,11339,11339,1413,Micronodular cirrhosis,HPO,phenotype,PHENOTYPE_11339
11340,11340,11340,11340,11340,11340,11340,11340,31041,Obstruction of the superior vena cava,HPO,phenotype,PHENOTYPE_11340
11341,11341,11341,11341,11341,11341,11341,11341,25142,Constitutional symptom,HPO,phenotype,PHENOTYPE_11341
11342,11342,11342,11342,11342,11342,11342,11342,11194,EEG with series of focal spikes,HPO,phenotype,PHENOTYPE_11342
11343,11343,11343,11343,11343,11343,11343,11343,33434,Nasal septum perforation,HPO,phenotype,PHENOTYPE_11343
11344,11344,11344,11344,11344,11344,11344,11344,1545,Anteriorly placed anus,HPO,phenotype,PHENOTYPE_11344
11345,11345,11345,11345,11345,11345,11345,11345,30593,Abnormal manual kinetic perimetry test,HPO,phenotype,PHENOTYPE_11345
11346,11346,11346,11346,11346,11346,11346,11346,11242,Underdeveloped stem of antihelix,HPO,phenotype,PHENOTYPE_11346
11347,11347,11347,11347,11347,11347,11347,11347,31206,Striatal T2 hyperintensity,HPO,phenotype,PHENOTYPE_11347
11348,11348,11348,11348,11348,11348,11348,11348,11475,Persistent stapedial artery,HPO,phenotype,PHENOTYPE_11348
11349,11349,11349,11349,11349,11349,11349,11349,25285,Aggravated by,HPO,phenotype,PHENOTYPE_11349
11350,11350,11350,11350,11350,11350,11350,11350,33705,Tearfulness,HPO,phenotype,PHENOTYPE_11350
11351,11351,11351,11351,11351,11351,11351,11351,5201001,Complete unilateral cleft lip,HPO,phenotype,PHENOTYPE_11351
11352,11352,11352,11352,11352,11352,11352,11352,9631,Bullet-shaped proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_11352
11353,11353,11353,11353,11353,11353,11353,11353,500033,Abnormal natural killer subset distribution,HPO,phenotype,PHENOTYPE_11353
11354,11354,11354,11354,11354,11354,11354,11354,8807,Acetabular dysplasia,HPO,phenotype,PHENOTYPE_11354
11355,11355,11355,11355,11355,11355,11355,11355,4607,Anterior beaking of lower thoracic vertebrae,HPO,phenotype,PHENOTYPE_11355
11356,11356,11356,11356,11356,11356,11356,11356,40321,Dark yellow urine,HPO,phenotype,PHENOTYPE_11356
11357,11357,11357,11357,11357,11357,11357,11357,915,Pectus excavatum of inferior sternum,HPO,phenotype,PHENOTYPE_11357
11358,11358,11358,11358,11358,11358,11358,11358,12687,Agenesis of pineal gland,HPO,phenotype,PHENOTYPE_11358
11359,11359,11359,11359,11359,11359,11359,11359,500147,Hypoglutaminemia,HPO,phenotype,PHENOTYPE_11359
11360,11360,11360,11360,11360,11360,11360,11360,12605,Hypernatriuria,HPO,phenotype,PHENOTYPE_11360
11361,11361,11361,11361,11361,11361,11361,11361,1660,Truncus arteriosus,HPO,phenotype,PHENOTYPE_11361
11362,11362,11362,11362,11362,11362,11362,11362,33136,Lymph node abscess,HPO,phenotype,PHENOTYPE_11362
11363,11363,11363,11363,11363,11363,11363,11363,10897,Hypersarcosinuria,HPO,phenotype,PHENOTYPE_11363
11364,11364,11364,11364,11364,11364,11364,11364,32872,Focal impaired awareness cognitive seizure with illusion,HPO,phenotype,PHENOTYPE_11364
11365,11365,11365,11365,11365,11365,11365,11365,7352,Cerebellar calcifications,HPO,phenotype,PHENOTYPE_11365
11366,11366,11366,11366,11366,11366,11366,11366,4280,Irregular ossification of hand bones,HPO,phenotype,PHENOTYPE_11366
11367,11367,11367,11367,11367,11367,11367,11367,25344,Interlobular bile duct destruction,HPO,phenotype,PHENOTYPE_11367
11368,11368,11368,11368,11368,11368,11368,11368,5000011,Anti-GAD65 antibody,HPO,phenotype,PHENOTYPE_11368
11369,11369,11369,11369,11369,11369,11369,11369,32992,Abnormal pulmonary fissure architecture,HPO,phenotype,PHENOTYPE_11369
11370,11370,11370,11370,11370,11370,11370,11370,100891,Bifid xiphoid process,HPO,phenotype,PHENOTYPE_11370
11371,11371,11371,11371,11371,11371,11371,11371,6710,Aplasia/Hypoplasia of the clavicles,HPO,phenotype,PHENOTYPE_11371
11372,11372,11372,11372,11372,11372,11372,11372,100384,Absent proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_11372
11373,11373,11373,11373,11373,11373,11373,11373,34935,Decreased circulating 7-dehydrocholesterol concentration,HPO,phenotype,PHENOTYPE_11373
11374,11374,11374,11374,11374,11374,11374,11374,33435,Abnormal circulating keto acid concentration,HPO,phenotype,PHENOTYPE_11374
11375,11375,11375,11375,11375,11375,11375,11375,12014,EEG with central focal spikes,HPO,phenotype,PHENOTYPE_11375
11376,11376,11376,11376,11376,11376,11376,11376,6392,Increased density of long bones,HPO,phenotype,PHENOTYPE_11376
11377,11377,11377,11377,11377,11377,11377,11377,30272,Abnormal erythrocyte enzyme concentration or activity,HPO,phenotype,PHENOTYPE_11377
11378,11378,11378,11378,11378,11378,11378,11378,4826,Folate-unresponsive megaloblastic anemia,HPO,phenotype,PHENOTYPE_11378
11379,11379,11379,11379,11379,11379,11379,11379,10706,1-3 finger cutaneous syndactyly,HPO,phenotype,PHENOTYPE_11379
11380,11380,11380,11380,11380,11380,11380,11380,33983,Decreased circulating apolipoprotein C-II concentration,HPO,phenotype,PHENOTYPE_11380
11381,11381,11381,11381,11381,11381,11381,11381,1824,Weight loss,HPO,phenotype,PHENOTYPE_11381
11382,11382,11382,11382,11382,11382,11382,11382,5317,Increased pulmonary vascular resistance,HPO,phenotype,PHENOTYPE_11382
11383,11383,11383,11383,11383,11383,11383,11383,34955,Bone marrow eosinophilia,HPO,phenotype,PHENOTYPE_11383
11384,11384,11384,11384,11384,11384,11384,11384,32562,Tapered sperm head,HPO,phenotype,PHENOTYPE_11384
11385,11385,11385,11385,11385,11385,11385,11385,40172,Abnormality of occipitofrontalis muscle,HPO,phenotype,PHENOTYPE_11385
11386,11386,11386,11386,11386,11386,11386,11386,5200305,Paradoxical insomnia,HPO,phenotype,PHENOTYPE_11386
11387,11387,11387,11387,11387,11387,11387,11387,33628,Bowel irritability,HPO,phenotype,PHENOTYPE_11387
11388,11388,11388,11388,11388,11388,11388,11388,1426,Non-Mendelian inheritance,HPO,phenotype,PHENOTYPE_11388
11389,11389,11389,11389,11389,11389,11389,11389,7034,Generalized hyperreflexia,HPO,phenotype,PHENOTYPE_11389
11390,11390,11390,11390,11390,11390,11390,11390,2575,Tracheoesophageal fistula,HPO,phenotype,PHENOTYPE_11390
11391,11391,11391,11391,11391,11391,11391,11391,3297,Hyperlysinuria,HPO,phenotype,PHENOTYPE_11391
11392,11392,11392,11392,11392,11392,11392,11392,363,Abnormal earlobe morphology,HPO,phenotype,PHENOTYPE_11392
11393,11393,11393,11393,11393,11393,11393,11393,500009,Dysplastic gangliocytoma of the cerebellum,HPO,phenotype,PHENOTYPE_11393
11394,11394,11394,11394,11394,11394,11394,11394,30504,Grouped congenital hypertrophy of retinal pigment epithelium,HPO,phenotype,PHENOTYPE_11394
11395,11395,11395,11395,11395,11395,11395,11395,100157,Absent epiphysis of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_11395
11396,11396,11396,11396,11396,11396,11396,11396,25364,Glomerular extracapillary hypercellularity,HPO,phenotype,PHENOTYPE_11396
11397,11397,11397,11397,11397,11397,11397,11397,40309,Increased size of the mandible,HPO,phenotype,PHENOTYPE_11397
11398,11398,11398,11398,11398,11398,11398,11398,33808,Spermatocele,HPO,phenotype,PHENOTYPE_11398
11399,11399,11399,11399,11399,11399,11399,11399,3930,Lytic defects of humeral diaphysis,HPO,phenotype,PHENOTYPE_11399
11400,11400,11400,11400,11400,11400,11400,11400,500232,Abnormal CSF alanine concentration,HPO,phenotype,PHENOTYPE_11400
11401,11401,11401,11401,11401,11401,11401,11401,4368,Increased circulating purine concentration,HPO,phenotype,PHENOTYPE_11401
11402,11402,11402,11402,11402,11402,11402,11402,34855,Maternal obesity during pregnancy,HPO,phenotype,PHENOTYPE_11402
11403,11403,11403,11403,11403,11403,11403,11403,500086,Optic nerve gray crescent,HPO,phenotype,PHENOTYPE_11403
11404,11404,11404,11404,11404,11404,11404,11404,876,Oligomenorrhea,HPO,phenotype,PHENOTYPE_11404
11405,11405,11405,11405,11405,11405,11405,11405,410181,Increased glucose-6-phosphate dehydrogenase level in dried blood spot,HPO,phenotype,PHENOTYPE_11405
11406,11406,11406,11406,11406,11406,11406,11406,6461,Proximal femoral epiphysiolysis,HPO,phenotype,PHENOTYPE_11406
11407,11407,11407,11407,11407,11407,11407,11407,1551,Abnormal umbilicus morphology,HPO,phenotype,PHENOTYPE_11407
11408,11408,11408,11408,11408,11408,11408,11408,10303,Abnormal spinal meningeal morphology,HPO,phenotype,PHENOTYPE_11408
11409,11409,11409,11409,11409,11409,11409,11409,32685,Focal cognitive seizure with auditory agnosia,HPO,phenotype,PHENOTYPE_11409
11410,11410,11410,11410,11410,11410,11410,11410,31798,Elevated circulating apolipoprotein B concentration,HPO,phenotype,PHENOTYPE_11410
11411,11411,11411,11411,11411,11411,11411,11411,3079,Defective DNA repair after ultraviolet radiation damage,HPO,phenotype,PHENOTYPE_11411
11412,11412,11412,11412,11412,11412,11412,11412,33071,Impaired task monitoring,HPO,phenotype,PHENOTYPE_11412
11413,11413,11413,11413,11413,11413,11413,11413,100911,Sclerosis of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_11413
11414,11414,11414,11414,11414,11414,11414,11414,8753,Aplasia of the epiglottis,HPO,phenotype,PHENOTYPE_11414
11415,11415,11415,11415,11415,11415,11415,11415,100627,Displacement of the urethral meatus,HPO,phenotype,PHENOTYPE_11415
11416,11416,11416,11416,11416,11416,11416,11416,9246,Aplasia of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_11416
11417,11417,11417,11417,11417,11417,11417,11417,100364,Aplasia of the phalanges of the 5th toe,HPO,phenotype,PHENOTYPE_11417
11418,11418,11418,11418,11418,11418,11418,11418,12717,Severe conductive hearing impairment,HPO,phenotype,PHENOTYPE_11418
11419,11419,11419,11419,11419,11419,11419,11419,11220,Prominent forehead,HPO,phenotype,PHENOTYPE_11419
11420,11420,11420,11420,11420,11420,11420,11420,31695,Severe parainfluenza infection,HPO,phenotype,PHENOTYPE_11420
11421,11421,11421,11421,11421,11421,11421,11421,41091,Avulsion fractured epiphysis of femur,HPO,phenotype,PHENOTYPE_11421
11422,11422,11422,11422,11422,11422,11422,11422,8643,Nephroblastomatosis,HPO,phenotype,PHENOTYPE_11422
11423,11423,11423,11423,11423,11423,11423,11423,13,Hypoplasia of the uterus,HPO,phenotype,PHENOTYPE_11423
11424,11424,11424,11424,11424,11424,11424,11424,25330,Downgaze palsy,HPO,phenotype,PHENOTYPE_11424
11425,11425,11425,11425,11425,11425,11425,11425,9348,Cone-shaped epiphysis of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_11425
11426,11426,11426,11426,11426,11426,11426,11426,7830,Adult-onset night blindness,HPO,phenotype,PHENOTYPE_11426
11427,11427,11427,11427,11427,11427,11427,11427,33895,Abnormal renal arteriole endothelium morphology,HPO,phenotype,PHENOTYPE_11427
11428,11428,11428,11428,11428,11428,11428,11428,33711,Pulmonary interstitial thickening,HPO,phenotype,PHENOTYPE_11428
11429,11429,11429,11429,11429,11429,11429,11429,5653,Moderate generalized osteoporosis,HPO,phenotype,PHENOTYPE_11429
11430,11430,11430,11430,11430,11430,11430,11430,6127,Long proximal phalanx of finger,HPO,phenotype,PHENOTYPE_11430
11431,11431,11431,11431,11431,11431,11431,11431,20103,Invasive pulmonary aspergillosis,HPO,phenotype,PHENOTYPE_11431
11432,11432,11432,11432,11432,11432,11432,11432,20117,Hypoplastic dermoepidermal hemidesmosomes,HPO,phenotype,PHENOTYPE_11432
11433,11433,11433,11433,11433,11433,11433,11433,410229,Increased anti-gluten IgE antibody level,HPO,phenotype,PHENOTYPE_11433
11434,11434,11434,11434,11434,11434,11434,11434,7832,Pigmentation of the sclera,HPO,phenotype,PHENOTYPE_11434
11435,11435,11435,11435,11435,11435,11435,11435,10919,Abnormal circulating homocysteine concentration,HPO,phenotype,PHENOTYPE_11435
11436,11436,11436,11436,11436,11436,11436,11436,30471,Abnormal dark-adapted dim flash electroretinogram,HPO,phenotype,PHENOTYPE_11436
11437,11437,11437,11437,11437,11437,11437,11437,926,Platyspondyly,HPO,phenotype,PHENOTYPE_11437
11438,11438,11438,11438,11438,11438,11438,11438,31777,Cyclophoria,HPO,phenotype,PHENOTYPE_11438
11439,11439,11439,11439,11439,11439,11439,11439,12171,Stereotypical hand wringing,HPO,phenotype,PHENOTYPE_11439
11440,11440,11440,11440,11440,11440,11440,11440,9669,Irregular epiphysis of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_11440
11441,11441,11441,11441,11441,11441,11441,11441,3146,Hypocholesterolemia,HPO,phenotype,PHENOTYPE_11441
11442,11442,11442,11442,11442,11442,11442,11442,25631,Alpha-aminobutyric aciduria,HPO,phenotype,PHENOTYPE_11442
11443,11443,11443,11443,11443,11443,11443,11443,33430,Non-infectious meningitis,HPO,phenotype,PHENOTYPE_11443
11444,11444,11444,11444,11444,11444,11444,11444,3979,Lytic defects of the radius,HPO,phenotype,PHENOTYPE_11444
11445,11445,11445,11445,11445,11445,11445,11445,3000064,Abnormality of intrinsic muscle of tongue,HPO,phenotype,PHENOTYPE_11445
11446,11446,11446,11446,11446,11446,11446,11446,7988,Macular hypopigmentation,HPO,phenotype,PHENOTYPE_11446
11447,11447,11447,11447,11447,11447,11447,11447,33437,Elevated circulating 4-methyl-2-oxopentanoic acid concentration,HPO,phenotype,PHENOTYPE_11447
11448,11448,11448,11448,11448,11448,11448,11448,3771,Pulp calcification,HPO,phenotype,PHENOTYPE_11448
11449,11449,11449,11449,11449,11449,11449,11449,31103,Decreased circulating antimullerian hormone circulation,HPO,phenotype,PHENOTYPE_11449
11450,11450,11450,11450,11450,11450,11450,11450,8652,Autonomic erectile dysfunction,HPO,phenotype,PHENOTYPE_11450
11451,11451,11451,11451,11451,11451,11451,11451,9633,Osteolytic defect of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_11451
11452,11452,11452,11452,11452,11452,11452,11452,30959,Muscular ventricular septal aneurysm,HPO,phenotype,PHENOTYPE_11452
11453,11453,11453,11453,11453,11453,11453,11453,6705,Abnormal atrioventricular valve morphology,HPO,phenotype,PHENOTYPE_11453
11454,11454,11454,11454,11454,11454,11454,11454,1340,Enhancement of the C-reflex,HPO,phenotype,PHENOTYPE_11454
11455,11455,11455,11455,11455,11455,11455,11455,6970,Periventricular leukomalacia,HPO,phenotype,PHENOTYPE_11455
11456,11456,11456,11456,11456,11456,11456,11456,12270,Decreased muscle glycogen content,HPO,phenotype,PHENOTYPE_11456
11457,11457,11457,11457,11457,11457,11457,11457,1050,Plethora,HPO,phenotype,PHENOTYPE_11457
11458,11458,11458,11458,11458,11458,11458,11458,100316,Hirano bodies,HPO,phenotype,PHENOTYPE_11458
11459,11459,11459,11459,11459,11459,11459,11459,41200,Fractured sternal end of clavicle,HPO,phenotype,PHENOTYPE_11459
11460,11460,11460,11460,11460,11460,11460,11460,410266,Visceral hemangioma,HPO,phenotype,PHENOTYPE_11460
11461,11461,11461,11461,11461,11461,11461,11461,34977,Abnormal pituitary stalk morphology,HPO,phenotype,PHENOTYPE_11461
11462,11462,11462,11462,11462,11462,11462,11462,7036,Hypoplasia of olfactory tract,HPO,phenotype,PHENOTYPE_11462
11463,11463,11463,11463,11463,11463,11463,11463,12817,Noncompaction cardiomyopathy,HPO,phenotype,PHENOTYPE_11463
11464,11464,11464,11464,11464,11464,11464,11464,550,Undetectable electroretinogram,HPO,phenotype,PHENOTYPE_11464
11465,11465,11465,11465,11465,11465,11465,11465,5508,Monoclonal immunoglobulin M proteinemia,HPO,phenotype,PHENOTYPE_11465
11466,11466,11466,11466,11466,11466,11466,11466,31669,Middiastolic murmur,HPO,phenotype,PHENOTYPE_11466
11467,11467,11467,11467,11467,11467,11467,11467,3392,First dorsal interossei muscle weakness,HPO,phenotype,PHENOTYPE_11467
11468,11468,11468,11468,11468,11468,11468,11468,5743,Avascular necrosis of the capital femoral epiphysis,HPO,phenotype,PHENOTYPE_11468
11469,11469,11469,11469,11469,11469,11469,11469,31991,Increased urinary excretion of galactosyl hydroxylysine,HPO,phenotype,PHENOTYPE_11469
11470,11470,11470,11470,11470,11470,11470,11470,33132,Renal cortical hyperechogenicity,HPO,phenotype,PHENOTYPE_11470
11471,11471,11471,11471,11471,11471,11471,11471,4000205,Reduced tissue beta-mannosidase activity,HPO,phenotype,PHENOTYPE_11471
11472,11472,11472,11472,11472,11472,11472,11472,3380,Decreased number of peripheral myelinated nerve fibers,HPO,phenotype,PHENOTYPE_11472
11473,11473,11473,11473,11473,11473,11473,11473,5372,Abnormality of B cell physiology,HPO,phenotype,PHENOTYPE_11473
11474,11474,11474,11474,11474,11474,11474,11474,2937,Hemivertebrae,HPO,phenotype,PHENOTYPE_11474
11475,11475,11475,11475,11475,11475,11475,11475,6000148,Perihepatic enhancement,HPO,phenotype,PHENOTYPE_11475
11476,11476,11476,11476,11476,11476,11476,11476,200085,Limb tremor,HPO,phenotype,PHENOTYPE_11476
11477,11477,11477,11477,11477,11477,11477,11477,5000008,Anti-FGFR3 antibody positivity,HPO,phenotype,PHENOTYPE_11477
11478,11478,11478,11478,11478,11478,11478,11478,6375,Dumbbell-shaped femur,HPO,phenotype,PHENOTYPE_11478
11479,11479,11479,11479,11479,11479,11479,11479,10996,Abnormal circulating monocarboxylic acid concentration,HPO,phenotype,PHENOTYPE_11479
11480,11480,11480,11480,11480,11480,11480,11480,12411,Premature pubarche,HPO,phenotype,PHENOTYPE_11480
11481,11481,11481,11481,11481,11481,11481,11481,5200121,Objectification of others,HPO,phenotype,PHENOTYPE_11481
11482,11482,11482,11482,11482,11482,11482,11482,31600,P wave inversion,HPO,phenotype,PHENOTYPE_11482
11483,11483,11483,11483,11483,11483,11483,11483,7375,Abnormal septum pellucidum morphology,HPO,phenotype,PHENOTYPE_11483
11484,11484,11484,11484,11484,11484,11484,11484,33295,Mesangial Immune complex deposition,HPO,phenotype,PHENOTYPE_11484
11485,11485,11485,11485,11485,11485,11485,11485,34736,Elevated circulating alpha-oxoadipic acid concentration,HPO,phenotype,PHENOTYPE_11485
11486,11486,11486,11486,11486,11486,11486,11486,410137,Solar urticaria,HPO,phenotype,PHENOTYPE_11486
11487,11487,11487,11487,11487,11487,11487,11487,9798,Euthyroid goiter,HPO,phenotype,PHENOTYPE_11487
11488,11488,11488,11488,11488,11488,11488,11488,732,Inflexible adherence to routines,HPO,phenotype,PHENOTYPE_11488
11489,11489,11489,11489,11489,11489,11489,11489,5542,Prolonged whole-blood clotting time,HPO,phenotype,PHENOTYPE_11489
11490,11490,11490,11490,11490,11490,11490,11490,6000998,Liver rupture,HPO,phenotype,PHENOTYPE_11490
11491,11491,11491,11491,11491,11491,11491,11491,2375,Hypokinesia,HPO,phenotype,PHENOTYPE_11491
11492,11492,11492,11492,11492,11492,11492,11492,2023,Anal atresia,HPO,phenotype,PHENOTYPE_11492
11493,11493,11493,11493,11493,11493,11493,11493,35031,Elevated circulating tiglylcarnitine concentration,HPO,phenotype,PHENOTYPE_11493
11494,11494,11494,11494,11494,11494,11494,11494,30996,Megaduodenum,HPO,phenotype,PHENOTYPE_11494
11495,11495,11495,11495,11495,11495,11495,11495,10184,Abnormality of toe proximal phalanx,HPO,phenotype,PHENOTYPE_11495
11496,11496,11496,11496,11496,11496,11496,11496,7443,Partial albinism,HPO,phenotype,PHENOTYPE_11496
11497,11497,11497,11497,11497,11497,11497,11497,2867,Abnormal ilium morphology,HPO,phenotype,PHENOTYPE_11497
11498,11498,11498,11498,11498,11498,11498,11498,1271,Polyneuropathy,HPO,phenotype,PHENOTYPE_11498
11499,11499,11499,11499,11499,11499,11499,11499,34047,Rib osteolysis,HPO,phenotype,PHENOTYPE_11499
11500,11500,11500,11500,11500,11500,11500,11500,200109,Absent/shortened outer dynein arms,HPO,phenotype,PHENOTYPE_11500
11501,11501,11501,11501,11501,11501,11501,11501,34375,Spherophakia,HPO,phenotype,PHENOTYPE_11501
11502,11502,11502,11502,11502,11502,11502,11502,11914,Thoracic hypertrichosis,HPO,phenotype,PHENOTYPE_11502
11503,11503,11503,11503,11503,11503,11503,11503,830,Anterior hypopituitarism,HPO,phenotype,PHENOTYPE_11503
11504,11504,11504,11504,11504,11504,11504,11504,33354,Abnormal urine metabolite level,HPO,phenotype,PHENOTYPE_11504
11505,11505,11505,11505,11505,11505,11505,11505,9772,Patchy sclerosis of finger phalanx,HPO,phenotype,PHENOTYPE_11505
11506,11506,11506,11506,11506,11506,11506,11506,32331,Increased urinary 11-deoxytetrahydrocorticosterone level,HPO,phenotype,PHENOTYPE_11506
11507,11507,11507,11507,11507,11507,11507,11507,33847,Phantageusia,HPO,phenotype,PHENOTYPE_11507
11508,11508,11508,11508,11508,11508,11508,11508,32262,Pulmonary tuberculosis,HPO,phenotype,PHENOTYPE_11508
11509,11509,11509,11509,11509,11509,11509,11509,25483,Abnormal circulating thyroglobulin concentration,HPO,phenotype,PHENOTYPE_11509
11510,11510,11510,11510,11510,11510,11510,11510,11110,Recurrent tonsillitis,HPO,phenotype,PHENOTYPE_11510
11511,11511,11511,11511,11511,11511,11511,11511,584,Punctate corneal epithelial erosions,HPO,phenotype,PHENOTYPE_11511
11512,11512,11512,11512,11512,11512,11512,11512,7107,Segmental peripheral demyelination,HPO,phenotype,PHENOTYPE_11512
11513,11513,11513,11513,11513,11513,11513,11513,100307,Cerebellar hemisphere hypoplasia,HPO,phenotype,PHENOTYPE_11513
11514,11514,11514,11514,11514,11514,11514,11514,10323,Abnormality of the epiphyses of the 2nd toe,HPO,phenotype,PHENOTYPE_11514
11515,11515,11515,11515,11515,11515,11515,11515,174,Abnormal palate morphology,HPO,phenotype,PHENOTYPE_11515
11516,11516,11516,11516,11516,11516,11516,11516,100321,Abnormal dentate nucleus morphology,HPO,phenotype,PHENOTYPE_11516
11517,11517,11517,11517,11517,11517,11517,11517,100458,Osteolytic defects of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_11517
11518,11518,11518,11518,11518,11518,11518,11518,25435,Increased circulating lactate dehydrogenase concentration,HPO,phenotype,PHENOTYPE_11518
11519,11519,11519,11519,11519,11519,11519,11519,2813,Abnormal limb bone morphology,HPO,phenotype,PHENOTYPE_11519
11520,11520,11520,11520,11520,11520,11520,11520,31105,Abnormal uterus morphology,HPO,phenotype,PHENOTYPE_11520
11521,11521,11521,11521,11521,11521,11521,11521,12069,Keratan sulfate excretion in urine,HPO,phenotype,PHENOTYPE_11521
11522,11522,11522,11522,11522,11522,11522,11522,32156,Skin detachment,HPO,phenotype,PHENOTYPE_11522
11523,11523,11523,11523,11523,11523,11523,11523,40422,Elevated urinary inosine level,HPO,phenotype,PHENOTYPE_11523
11524,11524,11524,11524,11524,11524,11524,11524,12331,Abnormal autonomic nervous system morphology,HPO,phenotype,PHENOTYPE_11524
11525,11525,11525,11525,11525,11525,11525,11525,7270,Atypical absence seizure,HPO,phenotype,PHENOTYPE_11525
11526,11526,11526,11526,11526,11526,11526,11526,1870,Acroosteolysis of distal phalanges (feet),HPO,phenotype,PHENOTYPE_11526
11527,11527,11527,11527,11527,11527,11527,11527,30747,Preterm intraventricular hemorrhage,HPO,phenotype,PHENOTYPE_11527
11528,11528,11528,11528,11528,11528,11528,11528,5170,Complete heart block with broad QRS complexes,HPO,phenotype,PHENOTYPE_11528
11529,11529,11529,11529,11529,11529,11529,11529,6329,Alveolar process hypoplasia,HPO,phenotype,PHENOTYPE_11529
11530,11530,11530,11530,11530,11530,11530,11530,20114,Persistent human papillomavirus infection,HPO,phenotype,PHENOTYPE_11530
11531,11531,11531,11531,11531,11531,11531,11531,25113,Misophonia,HPO,phenotype,PHENOTYPE_11531
11532,11532,11532,11532,11532,11532,11532,11532,3831,Typified by age-related disease onset,HPO,phenotype,PHENOTYPE_11532
11533,11533,11533,11533,11533,11533,11533,11533,4484,Craniofacial asymmetry,HPO,phenotype,PHENOTYPE_11533
11534,11534,11534,11534,11534,11534,11534,11534,2290,Poliosis,HPO,phenotype,PHENOTYPE_11534
11535,11535,11535,11535,11535,11535,11535,11535,32464,Ureteral hypoplasia,HPO,phenotype,PHENOTYPE_11535
11536,11536,11536,11536,11536,11536,11536,11536,34678,Forefoot pronation contracture,HPO,phenotype,PHENOTYPE_11536
11537,11537,11537,11537,11537,11537,11537,11537,25385,Diet-resistant subcutaneous adipose tissue below waist,HPO,phenotype,PHENOTYPE_11537
11538,11538,11538,11538,11538,11538,11538,11538,100414,Complete duplication of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_11538
11539,11539,11539,11539,11539,11539,11539,11539,32659,Non-convulsive status epilepticus with coma,HPO,phenotype,PHENOTYPE_11539
11540,11540,11540,11540,11540,11540,11540,11540,6000974,Elevated circulating glyoxylic acid concentration,HPO,phenotype,PHENOTYPE_11540
11541,11541,11541,11541,11541,11541,11541,11541,11260,Darwin notch of helix,HPO,phenotype,PHENOTYPE_11541
11542,11542,11542,11542,11542,11542,11542,11542,12072,Aciduria,HPO,phenotype,PHENOTYPE_11542
11543,11543,11543,11543,11543,11543,11543,11543,34499,Increased bone marrow iron,HPO,phenotype,PHENOTYPE_11543
11544,11544,11544,11544,11544,11544,11544,11544,400005,Short ear,HPO,phenotype,PHENOTYPE_11544
11545,11545,11545,11545,11545,11545,11545,11545,30519,Congruous heteronymous hemianopia,HPO,phenotype,PHENOTYPE_11545
11546,11546,11546,11546,11546,11546,11546,11546,4690,Thickened Achilles tendon,HPO,phenotype,PHENOTYPE_11546
11547,11547,11547,11547,11547,11547,11547,11547,6000405,Decreased circulating nicotinamide adenine dinucleotide concentration,HPO,phenotype,PHENOTYPE_11547
11548,11548,11548,11548,11548,11548,11548,11548,31445,Oral mucosa nodule,HPO,phenotype,PHENOTYPE_11548
11549,11549,11549,11549,11549,11549,11549,11549,10097,Partial duplication of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_11549
11550,11550,11550,11550,11550,11550,11550,11550,32572,Abnormal urinary nucleobase concentration,HPO,phenotype,PHENOTYPE_11550
11551,11551,11551,11551,11551,11551,11551,11551,33986,Tortuous lymphatic vessels,HPO,phenotype,PHENOTYPE_11551
11552,11552,11552,11552,11552,11552,11552,11552,46504,Decreased libido,HPO,phenotype,PHENOTYPE_11552
11553,11553,11553,11553,11553,11553,11553,11553,1327,Photosensitive myoclonic seizure,HPO,phenotype,PHENOTYPE_11553
11554,11554,11554,11554,11554,11554,11554,11554,32589,Renal lymphocytic tubulitis,HPO,phenotype,PHENOTYPE_11554
11555,11555,11555,11555,11555,11555,11555,11555,31158,Widened atrophic scar,HPO,phenotype,PHENOTYPE_11555
11556,11556,11556,11556,11556,11556,11556,11556,25792,Abnormal cognitive process,HPO,phenotype,PHENOTYPE_11556
11557,11557,11557,11557,11557,11557,11557,11557,1954,Recurrent fever,HPO,phenotype,PHENOTYPE_11557
11558,11558,11558,11558,11558,11558,11558,11558,30353,Decreased serum insulin-like growth factor 1,HPO,phenotype,PHENOTYPE_11558
11559,11559,11559,11559,11559,11559,11559,11559,6000635,Breast granuloma,HPO,phenotype,PHENOTYPE_11559
11560,11560,11560,11560,11560,11560,11560,11560,31686,Increased stool alpha1-antitrypsin concentration,HPO,phenotype,PHENOTYPE_11560
11561,11561,11561,11561,11561,11561,11561,11561,7650,Progressive ophthalmoplegia,HPO,phenotype,PHENOTYPE_11561
11562,11562,11562,11562,11562,11562,11562,11562,4755,Supraventricular tachycardia,HPO,phenotype,PHENOTYPE_11562
11563,11563,11563,11563,11563,11563,11563,11563,12632,Abnormal intraocular pressure,HPO,phenotype,PHENOTYPE_11563
11564,11564,11564,11564,11564,11564,11564,11564,3832,Abnormality of the tibial plateaux,HPO,phenotype,PHENOTYPE_11564
11565,11565,11565,11565,11565,11565,11565,11565,10764,Short eyelashes,HPO,phenotype,PHENOTYPE_11565
11566,11566,11566,11566,11566,11566,11566,11566,5129,Congenital hypertrophy of left ventricle,HPO,phenotype,PHENOTYPE_11566
11567,11567,11567,11567,11567,11567,11567,11567,6000866,Delayed distal femoral epiphyseal ossification,HPO,phenotype,PHENOTYPE_11567
11568,11568,11568,11568,11568,11568,11568,11568,10259,Cone-shaped epiphyses of the middle phalanges of the hand,HPO,phenotype,PHENOTYPE_11568
11569,11569,11569,11569,11569,11569,11569,11569,3427,Thenar muscle weakness,HPO,phenotype,PHENOTYPE_11569
11570,11570,11570,11570,11570,11570,11570,11570,32151,Episodic eosinophilia,HPO,phenotype,PHENOTYPE_11570
11571,11571,11571,11571,11571,11571,11571,11571,430054,Anti-microfilaria antibody positivity,HPO,phenotype,PHENOTYPE_11571
11572,11572,11572,11572,11572,11572,11572,11572,6000670,Elevated urinary L-glycerate level,HPO,phenotype,PHENOTYPE_11572
11573,11573,11573,11573,11573,11573,11573,11573,6000494,Anti-factor VIII antibody positivity,HPO,phenotype,PHENOTYPE_11573
11574,11574,11574,11574,11574,11574,11574,11574,33548,Mesangial amyloid deposition,HPO,phenotype,PHENOTYPE_11574
11575,11575,11575,11575,11575,11575,11575,11575,1816,Thin nail,HPO,phenotype,PHENOTYPE_11575
11576,11576,11576,11576,11576,11576,11576,11576,6201,Hypermobility of distal interphalangeal joints,HPO,phenotype,PHENOTYPE_11576
11577,11577,11577,11577,11577,11577,11577,11577,34764,Gastric neurofibroma,HPO,phenotype,PHENOTYPE_11577
11578,11578,11578,11578,11578,11578,11578,11578,10704,1-2 finger cutaneous syndactyly,HPO,phenotype,PHENOTYPE_11578
11579,11579,11579,11579,11579,11579,11579,11579,31623,Brow ptosis,HPO,phenotype,PHENOTYPE_11579
11580,11580,11580,11580,11580,11580,11580,11580,451,Triangular nasal tip,HPO,phenotype,PHENOTYPE_11580
11581,11581,11581,11581,11581,11581,11581,11581,8774,Aplasia/Hypoplasia of the inner ear,HPO,phenotype,PHENOTYPE_11581
11582,11582,11582,11582,11582,11582,11582,11582,6001127,Pain at the base of the thumb,HPO,phenotype,PHENOTYPE_11582
11583,11583,11583,11583,11583,11583,11583,11583,10843,EEG with focal slow activity,HPO,phenotype,PHENOTYPE_11583
11584,11584,11584,11584,11584,11584,11584,11584,33704,Elevated urinary homogentisic acid,HPO,phenotype,PHENOTYPE_11584
11585,11585,11585,11585,11585,11585,11585,11585,820,Abnormality of the thyroid gland,HPO,phenotype,PHENOTYPE_11585
11586,11586,11586,11586,11586,11586,11586,11586,34028,Saccharopinuria,HPO,phenotype,PHENOTYPE_11586
11587,11587,11587,11587,11587,11587,11587,11587,1063,Acrocyanosis,HPO,phenotype,PHENOTYPE_11587
11588,11588,11588,11588,11588,11588,11588,11588,7052,Multifocal cerebral white matter abnormalities,HPO,phenotype,PHENOTYPE_11588
11589,11589,11589,11589,11589,11589,11589,11589,6237,Prominent interphalangeal joints,HPO,phenotype,PHENOTYPE_11589
11590,11590,11590,11590,11590,11590,11590,11590,500269,Abnormal proportion of gamma-delta T cells,HPO,phenotype,PHENOTYPE_11590
11591,11591,11591,11591,11591,11591,11591,11591,100477,Symphalangism affecting the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_11591
11592,11592,11592,11592,11592,11592,11592,11592,40288,Nasogastric tube feeding,HPO,phenotype,PHENOTYPE_11592
11593,11593,11593,11593,11593,11593,11593,11593,8076,Osteoporotic tarsals,HPO,phenotype,PHENOTYPE_11593
11594,11594,11594,11594,11594,11594,11594,11594,12855,Scrotal hyperpigmentation,HPO,phenotype,PHENOTYPE_11594
11595,11595,11595,11595,11595,11595,11595,11595,4297,Abnormality of the biliary system,HPO,phenotype,PHENOTYPE_11595
11596,11596,11596,11596,11596,11596,11596,11596,31580,Tessier number 8 facial cleft,HPO,phenotype,PHENOTYPE_11596
11597,11597,11597,11597,11597,11597,11597,11597,33762,Middle cerebral artery stroke,HPO,phenotype,PHENOTYPE_11597
11598,11598,11598,11598,11598,11598,11598,11598,2265,Large fleshy ears,HPO,phenotype,PHENOTYPE_11598
11599,11599,11599,11599,11599,11599,11599,11599,410169,Abnormal morphology of the shoulder musculature,HPO,phenotype,PHENOTYPE_11599
11600,11600,11600,11600,11600,11600,11600,11600,3758,Reduced subcutaneous adipose tissue,HPO,phenotype,PHENOTYPE_11600
11601,11601,11601,11601,11601,11601,11601,11601,7688,Undetectable light- and dark-adapted electroretinogram,HPO,phenotype,PHENOTYPE_11601
11602,11602,11602,11602,11602,11602,11602,11602,8339,Diaminoaciduria,HPO,phenotype,PHENOTYPE_11602
11603,11603,11603,11603,11603,11603,11603,11603,30664,Beevor's sign,HPO,phenotype,PHENOTYPE_11603
11604,11604,11604,11604,11604,11604,11604,11604,9429,Aplasia of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_11604
11605,11605,11605,11605,11605,11605,11605,11605,7535,Hypopigmented streaks,HPO,phenotype,PHENOTYPE_11605
11606,11606,11606,11606,11606,11606,11606,11606,40,Long penis,HPO,phenotype,PHENOTYPE_11606
11607,11607,11607,11607,11607,11607,11607,11607,31636,Anomalous origin of the right common carotid artery from the aorta,HPO,phenotype,PHENOTYPE_11607
11608,11608,11608,11608,11608,11608,11608,11608,5403,T lymphocytopenia,HPO,phenotype,PHENOTYPE_11608
11609,11609,11609,11609,11609,11609,11609,11609,31960,Arm dystonia,HPO,phenotype,PHENOTYPE_11609
11610,11610,11610,11610,11610,11610,11610,11610,9180,Ulnar deviation of the 5th finger,HPO,phenotype,PHENOTYPE_11610
11611,11611,11611,11611,11611,11611,11611,11611,10364,Patchy sclerosis of 3rd toe phalanx,HPO,phenotype,PHENOTYPE_11611
11612,11612,11612,11612,11612,11612,11612,11612,33987,Phosphaturic mesenchymal tumor,HPO,phenotype,PHENOTYPE_11612
11613,11613,11613,11613,11613,11613,11613,11613,33204,Triceps hyperreflexia,HPO,phenotype,PHENOTYPE_11613
11614,11614,11614,11614,11614,11614,11614,11614,34025,Abnormal circulating GABA concentration,HPO,phenotype,PHENOTYPE_11614
11615,11615,11615,11615,11615,11615,11615,11615,11913,Lumbar hypertrichosis,HPO,phenotype,PHENOTYPE_11615
11616,11616,11616,11616,11616,11616,11616,11616,11412,Ventouse delivery,HPO,phenotype,PHENOTYPE_11616
11617,11617,11617,11617,11617,11617,11617,11617,11620,Abnormality of abdominal situs,HPO,phenotype,PHENOTYPE_11617
11618,11618,11618,11618,11618,11618,11618,11618,30324,Bilateral vertebral artery hypoplasia,HPO,phenotype,PHENOTYPE_11618
11619,11619,11619,11619,11619,11619,11619,11619,6012,Widened metacarpal shaft,HPO,phenotype,PHENOTYPE_11619
11620,11620,11620,11620,11620,11620,11620,11620,33414,Lower extremity hypokinesia,HPO,phenotype,PHENOTYPE_11620
11621,11621,11621,11621,11621,11621,11621,11621,5108,Abnormal intervertebral disk morphology,HPO,phenotype,PHENOTYPE_11621
11622,11622,11622,11622,11622,11622,11622,11622,30470,Abnormal dark-adapted bright flash electroretinogram,HPO,phenotype,PHENOTYPE_11622
11623,11623,11623,11623,11623,11623,11623,11623,6001192,Corneal dellen,HPO,phenotype,PHENOTYPE_11623
11624,11624,11624,11624,11624,11624,11624,11624,3558,Viral infection-induced rhabdomyolysis,HPO,phenotype,PHENOTYPE_11624
11625,11625,11625,11625,11625,11625,11625,11625,9709,Increased CSF interferon alpha,HPO,phenotype,PHENOTYPE_11625
11626,11626,11626,11626,11626,11626,11626,11626,34780,Gadolinium exposure,HPO,phenotype,PHENOTYPE_11626
11627,11627,11627,11627,11627,11627,11627,11627,6000109,Supernumerary finger flexion crease,HPO,phenotype,PHENOTYPE_11627
11628,11628,11628,11628,11628,11628,11628,11628,6584,Small abnormally formed scapulae,HPO,phenotype,PHENOTYPE_11628
11629,11629,11629,11629,11629,11629,11629,11629,32859,Focal impaired awareness motor seizure with paresis/paralysis,HPO,phenotype,PHENOTYPE_11629
11630,11630,11630,11630,11630,11630,11630,11630,30650,Focal,HPO,phenotype,PHENOTYPE_11630
11631,11631,11631,11631,11631,11631,11631,11631,12334,Extrahepatic cholestasis,HPO,phenotype,PHENOTYPE_11631
11632,11632,11632,11632,11632,11632,11632,11632,30527,Very severe constriction of peripheral visual field,HPO,phenotype,PHENOTYPE_11632
11633,11633,11633,11633,11633,11633,11633,11633,9387,Irregular epiphyses of the 5th finger,HPO,phenotype,PHENOTYPE_11633
11634,11634,11634,11634,11634,11634,11634,11634,34468,Gastric xanthoma,HPO,phenotype,PHENOTYPE_11634
11635,11635,11635,11635,11635,11635,11635,11635,12856,Abnormal scrotal rugation,HPO,phenotype,PHENOTYPE_11635
11636,11636,11636,11636,11636,11636,11636,11636,12613,Increased urinary sulfate,HPO,phenotype,PHENOTYPE_11636
11637,11637,11637,11637,11637,11637,11637,11637,11893,Abnormal leukocyte count,HPO,phenotype,PHENOTYPE_11637
11638,11638,11638,11638,11638,11638,11638,11638,100910,Sclerosis of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_11638
11639,11639,11639,11639,11639,11639,11639,11639,12829,Profound,HPO,phenotype,PHENOTYPE_11639
11640,11640,11640,11640,11640,11640,11640,11640,31004,Hemiareflexia,HPO,phenotype,PHENOTYPE_11640
11641,11641,11641,11641,11641,11641,11641,11641,25655,Placenta increta,HPO,phenotype,PHENOTYPE_11641
11642,11642,11642,11642,11642,11642,11642,11642,12694,Enlarged thalamic volume,HPO,phenotype,PHENOTYPE_11642
11643,11643,11643,11643,11643,11643,11643,11643,40289,Cyclic neutropenia,HPO,phenotype,PHENOTYPE_11643
11644,11644,11644,11644,11644,11644,11644,11644,33697,Vesicular eruption,HPO,phenotype,PHENOTYPE_11644
11645,11645,11645,11645,11645,11645,11645,11645,34169,Increased circulating interleukin 22 concentration,HPO,phenotype,PHENOTYPE_11645
11646,11646,11646,11646,11646,11646,11646,11646,9856,Patchy sclerosis of proximal phalanx of finger,HPO,phenotype,PHENOTYPE_11646
11647,11647,11647,11647,11647,11647,11647,11647,12462,Chin myoclonus,HPO,phenotype,PHENOTYPE_11647
11648,11648,11648,11648,11648,11648,11648,11648,6703,Aplasia/Hypoplasia of the lungs,HPO,phenotype,PHENOTYPE_11648
11649,11649,11649,11649,11649,11649,11649,11649,10118,Irregular epiphyses of the hallux,HPO,phenotype,PHENOTYPE_11649
11650,11650,11650,11650,11650,11650,11650,11650,9122,Aplasia/hypoplasia affecting bones of the axial skeleton,HPO,phenotype,PHENOTYPE_11650
11651,11651,11651,11651,11651,11651,11651,11651,100494,Abnormal mast cell morphology,HPO,phenotype,PHENOTYPE_11651
11652,11652,11652,11652,11652,11652,11652,11652,20264,Lack of germinal center mitotic figures,HPO,phenotype,PHENOTYPE_11652
11653,11653,11653,11653,11653,11653,11653,11653,32493,Increased circulating trypsinogen,HPO,phenotype,PHENOTYPE_11653
11654,11654,11654,11654,11654,11654,11654,11654,5558,Chronic leukemia,HPO,phenotype,PHENOTYPE_11654
11655,11655,11655,11655,11655,11655,11655,11655,34237,Open neural tube defect,HPO,phenotype,PHENOTYPE_11655
11656,11656,11656,11656,11656,11656,11656,11656,500195,Abnormal CSF glutamine family amino acid concentration,HPO,phenotype,PHENOTYPE_11656
11657,11657,11657,11657,11657,11657,11657,11657,100852,Abnormal fear-induced behavior,HPO,phenotype,PHENOTYPE_11657
11658,11658,11658,11658,11658,11658,11658,11658,4000079,Sensory seeking,HPO,phenotype,PHENOTYPE_11658
11659,11659,11659,11659,11659,11659,11659,11659,25761,Painless mass,HPO,phenotype,PHENOTYPE_11659
11660,11660,11660,11660,11660,11660,11660,11660,12120,Methylmalonic aciduria,HPO,phenotype,PHENOTYPE_11660
11661,11661,11661,11661,11661,11661,11661,11661,5939,Multiple bilateral pneumothoraces,HPO,phenotype,PHENOTYPE_11661
11662,11662,11662,11662,11662,11662,11662,11662,5261,Joint hemorrhage,HPO,phenotype,PHENOTYPE_11662
11663,11663,11663,11663,11663,11663,11663,11663,2223,Absent eyebrow,HPO,phenotype,PHENOTYPE_11663
11664,11664,11664,11664,11664,11664,11664,11664,10015,Absent epiphysis of the 1st metacarpal,HPO,phenotype,PHENOTYPE_11664
11665,11665,11665,11665,11665,11665,11665,11665,12402,Increased urine alpha-ketoglutarate concentration,HPO,phenotype,PHENOTYPE_11665
11666,11666,11666,11666,11666,11666,11666,11666,500008,Cornea verticillata,HPO,phenotype,PHENOTYPE_11666
11667,11667,11667,11667,11667,11667,11667,11667,214,Lip telangiectasia,HPO,phenotype,PHENOTYPE_11667
11668,11668,11668,11668,11668,11668,11668,11668,3210,Decreased methylmalonyl-CoA mutase activity,HPO,phenotype,PHENOTYPE_11668
11669,11669,11669,11669,11669,11669,11669,11669,11910,Shortening of all phalanges of fingers,HPO,phenotype,PHENOTYPE_11669
11670,11670,11670,11670,11670,11670,11670,11670,30762,Mesangiolysis,HPO,phenotype,PHENOTYPE_11670
11671,11671,11671,11671,11671,11671,11671,11671,34284,Recurrent gingivitis,HPO,phenotype,PHENOTYPE_11671
11672,11672,11672,11672,11672,11672,11672,11672,1756,Vestibular hyporeflexia,HPO,phenotype,PHENOTYPE_11672
11673,11673,11673,11673,11673,11673,11673,11673,4981,Prominent styloid process of ulna,HPO,phenotype,PHENOTYPE_11673
11674,11674,11674,11674,11674,11674,11674,11674,2720,Decreased circulating IgA concentration,HPO,phenotype,PHENOTYPE_11674
11675,11675,11675,11675,11675,11675,11675,11675,4000194,Pseudohyperkalemia,HPO,phenotype,PHENOTYPE_11675
11676,11676,11676,11676,11676,11676,11676,11676,32666,Hyperkinetic status epilepticus,HPO,phenotype,PHENOTYPE_11676
11677,11677,11677,11677,11677,11677,11677,11677,6000746,Elevated fractional excretion of urate,HPO,phenotype,PHENOTYPE_11677
11678,11678,11678,11678,11678,11678,11678,11678,9565,Aplasia of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_11678
11679,11679,11679,11679,11679,11679,11679,11679,791,Uric acid nephrolithiasis,HPO,phenotype,PHENOTYPE_11679
11680,11680,11680,11680,11680,11680,11680,11680,12282,Morbilliform rash,HPO,phenotype,PHENOTYPE_11680
11681,11681,11681,11681,11681,11681,11681,11681,5381,Recurrent meningococcal disease,HPO,phenotype,PHENOTYPE_11681
11682,11682,11682,11682,11682,11682,11682,11682,32540,Joint flexor surface localization,HPO,phenotype,PHENOTYPE_11682
11683,11683,11683,11683,11683,11683,11683,11683,9435,Symphalangism of middle phalanx of 3rd finger,HPO,phenotype,PHENOTYPE_11683
11684,11684,11684,11684,11684,11684,11684,11684,32054,Focal cortical dysplasia type III,HPO,phenotype,PHENOTYPE_11684
11685,11685,11685,11685,11685,11685,11685,11685,6000578,Reduced tissue gamma-glutamyltransferase activity,HPO,phenotype,PHENOTYPE_11685
11686,11686,11686,11686,11686,11686,11686,11686,32647,Renal tubular epithelial cell apoptosis,HPO,phenotype,PHENOTYPE_11686
11687,11687,11687,11687,11687,11687,11687,11687,25784,Word salad,HPO,phenotype,PHENOTYPE_11687
11688,11688,11688,11688,11688,11688,11688,11688,12273,Increased carotid artery intimal medial thickness,HPO,phenotype,PHENOTYPE_11688
11689,11689,11689,11689,11689,11689,11689,11689,52,"Urethral atresia, male",HPO,phenotype,PHENOTYPE_11689
11690,11690,11690,11690,11690,11690,11690,11690,847,Abnormality of renin-angiotensin system,HPO,phenotype,PHENOTYPE_11690
11691,11691,11691,11691,11691,11691,11691,11691,9549,Curved phalanges of the 2nd finger,HPO,phenotype,PHENOTYPE_11691
11692,11692,11692,11692,11692,11692,11692,11692,8144,Flattening of the talar dome,HPO,phenotype,PHENOTYPE_11692
11693,11693,11693,11693,11693,11693,11693,11693,31992,Apical hypertrophic cardiomyopathy,HPO,phenotype,PHENOTYPE_11693
11694,11694,11694,11694,11694,11694,11694,11694,5401,Recurrent candida infections,HPO,phenotype,PHENOTYPE_11694
11695,11695,11695,11695,11695,11695,11695,11695,40093,Asymmetry of the position of the ears,HPO,phenotype,PHENOTYPE_11695
11696,11696,11696,11696,11696,11696,11696,11696,7647,Congenital extraocular muscle anomaly,HPO,phenotype,PHENOTYPE_11696
11697,11697,11697,11697,11697,11697,11697,11697,12255,Dynein arm defect of respiratory motile cilia,HPO,phenotype,PHENOTYPE_11697
11698,11698,11698,11698,11698,11698,11698,11698,33837,Abnormal arcuate artery morphology,HPO,phenotype,PHENOTYPE_11698
11699,11699,11699,11699,11699,11699,11699,11699,2183,Phonophobia,HPO,phenotype,PHENOTYPE_11699
11700,11700,11700,11700,11700,11700,11700,11700,34983,Failure of phenylephrine to induce blanching of eye redness,HPO,phenotype,PHENOTYPE_11700
11701,11701,11701,11701,11701,11701,11701,11701,430024,Abnormality of external jugular vein,HPO,phenotype,PHENOTYPE_11701
11702,11702,11702,11702,11702,11702,11702,11702,30032,Partial absence of foot,HPO,phenotype,PHENOTYPE_11702
11703,11703,11703,11703,11703,11703,11703,11703,25578,Aortic valve prolapse,HPO,phenotype,PHENOTYPE_11703
11704,11704,11704,11704,11704,11704,11704,11704,1762,Talipes equinovarus,HPO,phenotype,PHENOTYPE_11704
11705,11705,11705,11705,11705,11705,11705,11705,34877,Decreased CSF metanephrine concentration,HPO,phenotype,PHENOTYPE_11705
11706,11706,11706,11706,11706,11706,11706,11706,25275,Lateral,HPO,phenotype,PHENOTYPE_11706
11707,11707,11707,11707,11707,11707,11707,11707,20242,Abnormal lymph-node follicle architecture,HPO,phenotype,PHENOTYPE_11707
11708,11708,11708,11708,11708,11708,11708,11708,8388,Abnormal toenail morphology,HPO,phenotype,PHENOTYPE_11708
11709,11709,11709,11709,11709,11709,11709,11709,5571,Increased renal tubular phosphate reabsorption,HPO,phenotype,PHENOTYPE_11709
11710,11710,11710,11710,11710,11710,11710,11710,30907,Thunderclap headache,HPO,phenotype,PHENOTYPE_11710
11711,11711,11711,11711,11711,11711,11711,11711,10341,Abnormality of the epiphyses of the 5th toe,HPO,phenotype,PHENOTYPE_11711
11712,11712,11712,11712,11712,11712,11712,11712,32086,Aortic smooth muscle cell nuclei loss,HPO,phenotype,PHENOTYPE_11712
11713,11713,11713,11713,11713,11713,11713,11713,100754,Mania,HPO,phenotype,PHENOTYPE_11713
11714,11714,11714,11714,11714,11714,11714,11714,10210,Triangular shaped proximal phalanges of the toes,HPO,phenotype,PHENOTYPE_11714
11715,11715,11715,11715,11715,11715,11715,11715,6000798,Positive bloodstream HIV p24 antigen test,HPO,phenotype,PHENOTYPE_11715
11716,11716,11716,11716,11716,11716,11716,11716,31645,Saccular abdominal aortic aneurysm,HPO,phenotype,PHENOTYPE_11716
11717,11717,11717,11717,11717,11717,11717,11717,11546,Abnormal atrioventricular connection,HPO,phenotype,PHENOTYPE_11717
11718,11718,11718,11718,11718,11718,11718,11718,8297,Transient hyperphenylalaninemia,HPO,phenotype,PHENOTYPE_11718
11719,11719,11719,11719,11719,11719,11719,11719,6001135,History of spinal cord injury,HPO,phenotype,PHENOTYPE_11719
11720,11720,11720,11720,11720,11720,11720,11720,430132,Occipital cortex localization,HPO,phenotype,PHENOTYPE_11720
11721,11721,11721,11721,11721,11721,11721,11721,100445,Curved middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_11721
11722,11722,11722,11722,11722,11722,11722,11722,6000665,Right ventricular regional akinesia,HPO,phenotype,PHENOTYPE_11722
11723,11723,11723,11723,11723,11723,11723,11723,750,Delayed speech and language development,HPO,phenotype,PHENOTYPE_11723
11724,11724,11724,11724,11724,11724,11724,11724,12342,Macroprolactinoma,HPO,phenotype,PHENOTYPE_11724
11725,11725,11725,11725,11725,11725,11725,11725,100,Nephrotic syndrome,HPO,phenotype,PHENOTYPE_11725
11726,11726,11726,11726,11726,11726,11726,11726,9459,Short proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_11726
11727,11727,11727,11727,11727,11727,11727,11727,8962,Calf muscle hypoplasia,HPO,phenotype,PHENOTYPE_11727
11728,11728,11728,11728,11728,11728,11728,11728,3419,Low back pain,HPO,phenotype,PHENOTYPE_11728
11729,11729,11729,11729,11729,11729,11729,11729,3447,Axonal loss,HPO,phenotype,PHENOTYPE_11729
11730,11730,11730,11730,11730,11730,11730,11730,7269,Spinal muscular atrophy,HPO,phenotype,PHENOTYPE_11730
11731,11731,11731,11731,11731,11731,11731,11731,6000385,Elevated circulating soluble CD163 concentration,HPO,phenotype,PHENOTYPE_11731
11732,11732,11732,11732,11732,11732,11732,11732,100126,Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_11732
11733,11733,11733,11733,11733,11733,11733,11733,6000130,Elevated urinary indican level,HPO,phenotype,PHENOTYPE_11733
11734,11734,11734,11734,11734,11734,11734,11734,66,Labial hypoplasia,HPO,phenotype,PHENOTYPE_11734
11735,11735,11735,11735,11735,11735,11735,11735,160,Narrow mouth,HPO,phenotype,PHENOTYPE_11735
11736,11736,11736,11736,11736,11736,11736,11736,1717,Coronary artery calcification,HPO,phenotype,PHENOTYPE_11736
11737,11737,11737,11737,11737,11737,11737,11737,1742,Nasal congestion,HPO,phenotype,PHENOTYPE_11737
11738,11738,11738,11738,11738,11738,11738,11738,4606,Unossified vertebral bodies,HPO,phenotype,PHENOTYPE_11738
11739,11739,11739,11739,11739,11739,11739,11739,3713,Muscle fiber necrosis,HPO,phenotype,PHENOTYPE_11739
11740,11740,11740,11740,11740,11740,11740,11740,4306,Abnormal endocardium morphology,HPO,phenotype,PHENOTYPE_11740
11741,11741,11741,11741,11741,11741,11741,11741,1387,Joint stiffness,HPO,phenotype,PHENOTYPE_11741
11742,11742,11742,11742,11742,11742,11742,11742,5200123,Abnormal response to social norms,HPO,phenotype,PHENOTYPE_11742
11743,11743,11743,11743,11743,11743,11743,11743,9652,Bullet-shaped thumb phalanx,HPO,phenotype,PHENOTYPE_11743
11744,11744,11744,11744,11744,11744,11744,11744,11397,Abnormality of the dorsal column of the spinal cord,HPO,phenotype,PHENOTYPE_11744
11745,11745,11745,11745,11745,11745,11745,11745,25149,Atrophic muscularis propria,HPO,phenotype,PHENOTYPE_11745
11746,11746,11746,11746,11746,11746,11746,11746,10679,Elevated tissue non-specific alkaline phosphatase,HPO,phenotype,PHENOTYPE_11746
11747,11747,11747,11747,11747,11747,11747,11747,40171,Decreased serum testosterone concentration,HPO,phenotype,PHENOTYPE_11747
11748,11748,11748,11748,11748,11748,11748,11748,9834,Abnormal proximal phalanx morphology of the hand,HPO,phenotype,PHENOTYPE_11748
11749,11749,11749,11749,11749,11749,11749,11749,5199,Aplasia of the abdominal wall musculature,HPO,phenotype,PHENOTYPE_11749
11750,11750,11750,11750,11750,11750,11750,11750,11056,Agenesis of first permanent molar tooth,HPO,phenotype,PHENOTYPE_11750
11751,11751,11751,11751,11751,11751,11751,11751,32267,Empty delta sign,HPO,phenotype,PHENOTYPE_11751
11752,11752,11752,11752,11752,11752,11752,11752,33620,Atypical perifissural nodule,HPO,phenotype,PHENOTYPE_11752
11753,11753,11753,11753,11753,11753,11753,11753,8028,Cystoid macular degeneration,HPO,phenotype,PHENOTYPE_11753
11754,11754,11754,11754,11754,11754,11754,11754,9855,Osteolytic defects of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_11754
11755,11755,11755,11755,11755,11755,11755,11755,33716,EEG with frontal epileptiform discharges,HPO,phenotype,PHENOTYPE_11755
11756,11756,11756,11756,11756,11756,11756,11756,2641,Peripheral thrombosis,HPO,phenotype,PHENOTYPE_11756
11757,11757,11757,11757,11757,11757,11757,11757,3988,Long ulna,HPO,phenotype,PHENOTYPE_11757
11758,11758,11758,11758,11758,11758,11758,11758,11764,Pituitary spindle cell oncocytoma,HPO,phenotype,PHENOTYPE_11758
11759,11759,11759,11759,11759,11759,11759,11759,25389,Pulmonary interstitial high-resolution computed tomography abnormality,HPO,phenotype,PHENOTYPE_11759
11760,11760,11760,11760,11760,11760,11760,11760,4000053,Displaced fracture,HPO,phenotype,PHENOTYPE_11760
11761,11761,11761,11761,11761,11761,11761,11761,30958,Membranous ventricular septal aneurysm,HPO,phenotype,PHENOTYPE_11761
11762,11762,11762,11762,11762,11762,11762,11762,410026,Abnormal periodontium morphology,HPO,phenotype,PHENOTYPE_11762
11763,11763,11763,11763,11763,11763,11763,11763,4377,Hematological neoplasm,HPO,phenotype,PHENOTYPE_11763
11764,11764,11764,11764,11764,11764,11764,11764,3429,CNS hypomyelination,HPO,phenotype,PHENOTYPE_11764
11765,11765,11765,11765,11765,11765,11765,11765,40030,Chorioretinal hypopigmentation,HPO,phenotype,PHENOTYPE_11765
11766,11766,11766,11766,11766,11766,11766,11766,12163,Carotid artery dilatation,HPO,phenotype,PHENOTYPE_11766
11767,11767,11767,11767,11767,11767,11767,11767,31043,Type A4 brachydactyly,HPO,phenotype,PHENOTYPE_11767
11768,11768,11768,11768,11768,11768,11768,11768,12716,Moderate conductive hearing impairment,HPO,phenotype,PHENOTYPE_11768
11769,11769,11769,11769,11769,11769,11769,11769,30074,Chemodectoma,HPO,phenotype,PHENOTYPE_11769
11770,11770,11770,11770,11770,11770,11770,11770,7274,Recurrent bacterial meningitis,HPO,phenotype,PHENOTYPE_11770
11771,11771,11771,11771,11771,11771,11771,11771,30190,Oral motor hypotonia,HPO,phenotype,PHENOTYPE_11771
11772,11772,11772,11772,11772,11772,11772,11772,940,Abnormal diaphysis morphology,HPO,phenotype,PHENOTYPE_11772
11773,11773,11773,11773,11773,11773,11773,11773,4000050,Open fracture,HPO,phenotype,PHENOTYPE_11773
11774,11774,11774,11774,11774,11774,11774,11774,3803,Type 1 muscle fiber predominance,HPO,phenotype,PHENOTYPE_11774
11775,11775,11775,11775,11775,11775,11775,11775,8527,Congenital sensorineural hearing impairment,HPO,phenotype,PHENOTYPE_11775
11776,11776,11776,11776,11776,11776,11776,11776,32492,Anti-myelin oligodendrocyte glycoprotein antibody positivity,HPO,phenotype,PHENOTYPE_11776
11777,11777,11777,11777,11777,11777,11777,11777,33644,Elevated circulating erythropoietin concentration,HPO,phenotype,PHENOTYPE_11777
11778,11778,11778,11778,11778,11778,11778,11778,1552,Barrel-shaped chest,HPO,phenotype,PHENOTYPE_11778
11779,11779,11779,11779,11779,11779,11779,11779,9577,Short middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_11779
11780,11780,11780,11780,11780,11780,11780,11780,9878,Cerebellar ataxia associated with quadrupedal gait,HPO,phenotype,PHENOTYPE_11780
11781,11781,11781,11781,11781,11781,11781,11781,31499,Appendiceal mucinous neoplasm,HPO,phenotype,PHENOTYPE_11781
11782,11782,11782,11782,11782,11782,11782,11782,3000017,Abnormality of temporalis muscle,HPO,phenotype,PHENOTYPE_11782
11783,11783,11783,11783,11783,11783,11783,11783,9195,Epiphyseal stippling of the metacarpals,HPO,phenotype,PHENOTYPE_11783
11784,11784,11784,11784,11784,11784,11784,11784,32516,Invasive dermatophyte infection,HPO,phenotype,PHENOTYPE_11784
11785,11785,11785,11785,11785,11785,11785,11785,34031,Facial cyanosis,HPO,phenotype,PHENOTYPE_11785
11786,11786,11786,11786,11786,11786,11786,11786,45011,Decreased urine bicarbonate concentration,HPO,phenotype,PHENOTYPE_11786
11787,11787,11787,11787,11787,11787,11787,11787,25252,Geographic tongue,HPO,phenotype,PHENOTYPE_11787
11788,11788,11788,11788,11788,11788,11788,11788,34791,Increased muscle succinate dehydrogenase staining,HPO,phenotype,PHENOTYPE_11788
11789,11789,11789,11789,11789,11789,11789,11789,100482,Proximal/middle symphalangism of 5th toe,HPO,phenotype,PHENOTYPE_11789
11790,11790,11790,11790,11790,11790,11790,11790,34710,Pulmonary hamartoma,HPO,phenotype,PHENOTYPE_11790
11791,11791,11791,11791,11791,11791,11791,11791,30815,Lipoma of the tongue,HPO,phenotype,PHENOTYPE_11791
11792,11792,11792,11792,11792,11792,11792,11792,30075,Ductal carcinoma in situ,HPO,phenotype,PHENOTYPE_11792
11793,11793,11793,11793,11793,11793,11793,11793,30775,Modic type vertebral endplate changes,HPO,phenotype,PHENOTYPE_11793
11794,11794,11794,11794,11794,11794,11794,11794,32232,Increased circulating creatine kinase MB isoform,HPO,phenotype,PHENOTYPE_11794
11795,11795,11795,11795,11795,11795,11795,11795,31627,Globus pallidus calcification,HPO,phenotype,PHENOTYPE_11795
11796,11796,11796,11796,11796,11796,11796,11796,4035,Abnormal ulnar styloid process morphology,HPO,phenotype,PHENOTYPE_11796
11797,11797,11797,11797,11797,11797,11797,11797,12276,Digital flexor tenosynovitis,HPO,phenotype,PHENOTYPE_11797
11798,11798,11798,11798,11798,11798,11798,11798,12371,Hyperplasia of midface,HPO,phenotype,PHENOTYPE_11798
11799,11799,11799,11799,11799,11799,11799,11799,33785,Enamel agenesis,HPO,phenotype,PHENOTYPE_11799
11800,11800,11800,11800,11800,11800,11800,11800,30888,C3 nephritic factor positivity,HPO,phenotype,PHENOTYPE_11800
11801,11801,11801,11801,11801,11801,11801,11801,30908,Liver kidney microsome type 1 antibody positivity,HPO,phenotype,PHENOTYPE_11801
11802,11802,11802,11802,11802,11802,11802,11802,34171,Reduced circulating interleukin 23 concentration,HPO,phenotype,PHENOTYPE_11802
11803,11803,11803,11803,11803,11803,11803,11803,2105,Hemoptysis,HPO,phenotype,PHENOTYPE_11803
11804,11804,11804,11804,11804,11804,11804,11804,430127,Brain localization,HPO,phenotype,PHENOTYPE_11804
11805,11805,11805,11805,11805,11805,11805,11805,1511,Intrauterine growth retardation,HPO,phenotype,PHENOTYPE_11805
11806,11806,11806,11806,11806,11806,11806,11806,33646,Absent hippocampal commissure,HPO,phenotype,PHENOTYPE_11806
11807,11807,11807,11807,11807,11807,11807,11807,6844,Absent patellar reflexes,HPO,phenotype,PHENOTYPE_11807
11808,11808,11808,11808,11808,11808,11808,11808,12657,Abnormal brain positron emission tomography,HPO,phenotype,PHENOTYPE_11808
11809,11809,11809,11809,11809,11809,11809,11809,11339,Abnormality of upper lip vermillion,HPO,phenotype,PHENOTYPE_11809
11810,11810,11810,11810,11810,11810,11810,11810,113,Polycystic kidney dysplasia,HPO,phenotype,PHENOTYPE_11810
11811,11811,11811,11811,11811,11811,11811,11811,30895,Abnormal gastrointestinal motility,HPO,phenotype,PHENOTYPE_11811
11812,11812,11812,11812,11812,11812,11812,11812,6387,Wide distal femoral metaphysis,HPO,phenotype,PHENOTYPE_11812
11813,11813,11813,11813,11813,11813,11813,11813,142,Abnormal vagina morphology,HPO,phenotype,PHENOTYPE_11813
11814,11814,11814,11814,11814,11814,11814,11814,12350,Decreased sialylation of N-linked protein glycosylation,HPO,phenotype,PHENOTYPE_11814
11815,11815,11815,11815,11815,11815,11815,11815,32202,Vulvar intraepithelial neoplasia,HPO,phenotype,PHENOTYPE_11815
11816,11816,11816,11816,11816,11816,11816,11816,3422,Vertebral segmentation defect,HPO,phenotype,PHENOTYPE_11816
11817,11817,11817,11817,11817,11817,11817,11817,5986,Limitation of neck motion,HPO,phenotype,PHENOTYPE_11817
11818,11818,11818,11818,11818,11818,11818,11818,25322,Venous occlusion,HPO,phenotype,PHENOTYPE_11818
11819,11819,11819,11819,11819,11819,11819,11819,30930,1-minute APGAR score of 3,HPO,phenotype,PHENOTYPE_11819
11820,11820,11820,11820,11820,11820,11820,11820,1930,Nonspherocytic hemolytic anemia,HPO,phenotype,PHENOTYPE_11820
11821,11821,11821,11821,11821,11821,11821,11821,32861,Focal non-convulsive status epilepticus with impairment of consciousness,HPO,phenotype,PHENOTYPE_11821
11822,11822,11822,11822,11822,11822,11822,11822,12725,Cutaneous syndactyly,HPO,phenotype,PHENOTYPE_11822
11823,11823,11823,11823,11823,11823,11823,11823,100564,Triplomyelia,HPO,phenotype,PHENOTYPE_11823
11824,11824,11824,11824,11824,11824,11824,11824,33076,Abnormal circulating free T4 concentration,HPO,phenotype,PHENOTYPE_11824
11825,11825,11825,11825,11825,11825,11825,11825,5474,Decreased calvarial ossification,HPO,phenotype,PHENOTYPE_11825
11826,11826,11826,11826,11826,11826,11826,11826,33749,Abnormal functional residual capacity,HPO,phenotype,PHENOTYPE_11826
11827,11827,11827,11827,11827,11827,11827,11827,5450,Calvarial osteosclerosis,HPO,phenotype,PHENOTYPE_11827
11828,11828,11828,11828,11828,11828,11828,11828,1089,Iris atrophy,HPO,phenotype,PHENOTYPE_11828
11829,11829,11829,11829,11829,11829,11829,11829,6000502,Elevated circulating calprotectin concentration,HPO,phenotype,PHENOTYPE_11829
11830,11830,11830,11830,11830,11830,11830,11830,30571,Pinhole visual acuity 0.3 LogMAR,HPO,phenotype,PHENOTYPE_11830
11831,11831,11831,11831,11831,11831,11831,11831,6619,Anterior rib punctate calcifications,HPO,phenotype,PHENOTYPE_11831
11832,11832,11832,11832,11832,11832,11832,11832,33795,Growth without growth hormone,HPO,phenotype,PHENOTYPE_11832
11833,11833,11833,11833,11833,11833,11833,11833,34246,Fetal scalp mass,HPO,phenotype,PHENOTYPE_11833
11834,11834,11834,11834,11834,11834,11834,11834,430044,Radiation into left arm,HPO,phenotype,PHENOTYPE_11834
11835,11835,11835,11835,11835,11835,11835,11835,11252,Cryptotia,HPO,phenotype,PHENOTYPE_11835
11836,11836,11836,11836,11836,11836,11836,11836,10458,Female pseudohermaphroditism,HPO,phenotype,PHENOTYPE_11836
11837,11837,11837,11837,11837,11837,11837,11837,33959,Cortical radial artery intima/media arteriosclerosis,HPO,phenotype,PHENOTYPE_11837
11838,11838,11838,11838,11838,11838,11838,11838,6000038,Subclavian artery stenosis,HPO,phenotype,PHENOTYPE_11838
11839,11839,11839,11839,11839,11839,11839,11839,2518,Abnormal periventricular white matter morphology,HPO,phenotype,PHENOTYPE_11839
11840,11840,11840,11840,11840,11840,11840,11840,32541,Knuckle pad,HPO,phenotype,PHENOTYPE_11840
11841,11841,11841,11841,11841,11841,11841,11841,2587,Projectile vomiting,HPO,phenotype,PHENOTYPE_11841
11842,11842,11842,11842,11842,11842,11842,11842,2339,Abnormal caudate nucleus morphology,HPO,phenotype,PHENOTYPE_11842
11843,11843,11843,11843,11843,11843,11843,11843,100380,Aplasia of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_11843
11844,11844,11844,11844,11844,11844,11844,11844,430065,Anti-babesia-specific antibody positivity,HPO,phenotype,PHENOTYPE_11844
11845,11845,11845,11845,11845,11845,11845,11845,32036,Reduced contrast sensitivity,HPO,phenotype,PHENOTYPE_11845
11846,11846,11846,11846,11846,11846,11846,11846,5766,Disproportionate shortening of the tibia,HPO,phenotype,PHENOTYPE_11846
11847,11847,11847,11847,11847,11847,11847,11847,3879,Humeral pseudarthrosis,HPO,phenotype,PHENOTYPE_11847
11848,11848,11848,11848,11848,11848,11848,11848,34729,Elevated circulating alpha-L-fucosidase activity,HPO,phenotype,PHENOTYPE_11848
11849,11849,11849,11849,11849,11849,11849,11849,6000994,Lack of pupillary response to hydroxyamphetamine,HPO,phenotype,PHENOTYPE_11849
11850,11850,11850,11850,11850,11850,11850,11850,9745,Spinal arachnoid cyst,HPO,phenotype,PHENOTYPE_11850
11851,11851,11851,11851,11851,11851,11851,11851,32789,Focal aware behavior arrest seizure,HPO,phenotype,PHENOTYPE_11851
11852,11852,11852,11852,11852,11852,11852,11852,31792,Irregular astigmatism,HPO,phenotype,PHENOTYPE_11852
11853,11853,11853,11853,11853,11853,11853,11853,34416,Torn oral frenulum,HPO,phenotype,PHENOTYPE_11853
11854,11854,11854,11854,11854,11854,11854,11854,6001138,Digoxin exposure,HPO,phenotype,PHENOTYPE_11854
11855,11855,11855,11855,11855,11855,11855,11855,2843,Abnormal T cell morphology,HPO,phenotype,PHENOTYPE_11855
11856,11856,11856,11856,11856,11856,11856,11856,500207,Decreased CSF lysine concentration,HPO,phenotype,PHENOTYPE_11856
11857,11857,11857,11857,11857,11857,11857,11857,410339,Insect bite allergy,HPO,phenotype,PHENOTYPE_11857
11858,11858,11858,11858,11858,11858,11858,11858,41055,Fractured humerus,HPO,phenotype,PHENOTYPE_11858
11859,11859,11859,11859,11859,11859,11859,11859,7427,Reticulated skin pigmentation,HPO,phenotype,PHENOTYPE_11859
11860,11860,11860,11860,11860,11860,11860,11860,5462,Calcification of falx cerebri,HPO,phenotype,PHENOTYPE_11860
11861,11861,11861,11861,11861,11861,11861,11861,25369,Thick growth plates,HPO,phenotype,PHENOTYPE_11861
11862,11862,11862,11862,11862,11862,11862,11862,31014,Arteria lusoria,HPO,phenotype,PHENOTYPE_11862
11863,11863,11863,11863,11863,11863,11863,11863,31397,Decreased proportion of naive T cells,HPO,phenotype,PHENOTYPE_11863
11864,11864,11864,11864,11864,11864,11864,11864,31271,Absent ankle pulse,HPO,phenotype,PHENOTYPE_11864
11865,11865,11865,11865,11865,11865,11865,11865,6891,Thick cerebral cortex,HPO,phenotype,PHENOTYPE_11865
11866,11866,11866,11866,11866,11866,11866,11866,5200030,Diminished integration of verbal and non-verbal communicative behavior,HPO,phenotype,PHENOTYPE_11866
11867,11867,11867,11867,11867,11867,11867,11867,12262,Abnormal ciliary motility,HPO,phenotype,PHENOTYPE_11867
11868,11868,11868,11868,11868,11868,11868,11868,1734,Annular pancreas,HPO,phenotype,PHENOTYPE_11868
11869,11869,11869,11869,11869,11869,11869,11869,11014,Abnormal glucose homeostasis,HPO,phenotype,PHENOTYPE_11869
11870,11870,11870,11870,11870,11870,11870,11870,33290,Glomerular subendothelial widening,HPO,phenotype,PHENOTYPE_11870
11871,11871,11871,11871,11871,11871,11871,11871,4000137,Isoniazid exposure,HPO,phenotype,PHENOTYPE_11871
11872,11872,11872,11872,11872,11872,11872,11872,6000442,Abnormal circulating interleukin 12 concentration,HPO,phenotype,PHENOTYPE_11872
11873,11873,11873,11873,11873,11873,11873,11873,11990,Abnormality of neutrophil physiology,HPO,phenotype,PHENOTYPE_11873
11874,11874,11874,11874,11874,11874,11874,11874,9046,Difficulty running,HPO,phenotype,PHENOTYPE_11874
11875,11875,11875,11875,11875,11875,11875,11875,6000080,Reduced phosphoserine phosphatase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_11875
11876,11876,11876,11876,11876,11876,11876,11876,12115,Hepatitis,HPO,phenotype,PHENOTYPE_11876
11877,11877,11877,11877,11877,11877,11877,11877,3258,Glyoxalase deficiency,HPO,phenotype,PHENOTYPE_11877
11878,11878,11878,11878,11878,11878,11878,11878,6000902,Positive blood Neisseria gonorrhoeae culture,HPO,phenotype,PHENOTYPE_11878
11879,11879,11879,11879,11879,11879,11879,11879,31108,Triceps weakness,HPO,phenotype,PHENOTYPE_11879
11880,11880,11880,11880,11880,11880,11880,11880,34447,Increased circulating interleukin 18 concentration,HPO,phenotype,PHENOTYPE_11880
11881,11881,11881,11881,11881,11881,11881,11881,6000426,Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_11881
11882,11882,11882,11882,11882,11882,11882,11882,25351,Recurrent interdigital mycosis,HPO,phenotype,PHENOTYPE_11882
11883,11883,11883,11883,11883,11883,11883,11883,5267,Premature delivery because of cervical insufficiency or membrane fragility,HPO,phenotype,PHENOTYPE_11883
11884,11884,11884,11884,11884,11884,11884,11884,34425,Reduced hair sulfur content,HPO,phenotype,PHENOTYPE_11884
11885,11885,11885,11885,11885,11885,11885,11885,6000025,Dark cerumen,HPO,phenotype,PHENOTYPE_11885
11886,11886,11886,11886,11886,11886,11886,11886,30414,Verrucous cell carcinoma of the tongue,HPO,phenotype,PHENOTYPE_11886
11887,11887,11887,11887,11887,11887,11887,11887,32425,Abnormal HDL3a concentration,HPO,phenotype,PHENOTYPE_11887
11888,11888,11888,11888,11888,11888,11888,11888,32041,Vocal cord polyp,HPO,phenotype,PHENOTYPE_11888
11889,11889,11889,11889,11889,11889,11889,11889,10040,Aplasia of the 3rd metacarpal,HPO,phenotype,PHENOTYPE_11889
11890,11890,11890,11890,11890,11890,11890,11890,30558,Best corrected visual acuity 0.5 LogMAR,HPO,phenotype,PHENOTYPE_11890
11891,11891,11891,11891,11891,11891,11891,11891,5229,Jejunoileal ulceration,HPO,phenotype,PHENOTYPE_11891
11892,11892,11892,11892,11892,11892,11892,11892,11331,Hemifacial atrophy,HPO,phenotype,PHENOTYPE_11892
11893,11893,11893,11893,11893,11893,11893,11893,30781,Increased circulating free fatty acid level,HPO,phenotype,PHENOTYPE_11893
11894,11894,11894,11894,11894,11894,11894,11894,25560,Anterior chamber cells,HPO,phenotype,PHENOTYPE_11894
11895,11895,11895,11895,11895,11895,11895,11895,5000026,Anti-neurexin-3alpha antibody positivity,HPO,phenotype,PHENOTYPE_11895
11896,11896,11896,11896,11896,11896,11896,11896,100387,Aplasia of the middle phalanges of the toes,HPO,phenotype,PHENOTYPE_11896
11897,11897,11897,11897,11897,11897,11897,11897,25341,Corneal keratic precipitates,HPO,phenotype,PHENOTYPE_11897
11898,11898,11898,11898,11898,11898,11898,11898,500046,Seborrhoeic blepharitis,HPO,phenotype,PHENOTYPE_11898
11899,11899,11899,11899,11899,11899,11899,11899,9875,Triangular shaped distal phalanges of the hand,HPO,phenotype,PHENOTYPE_11899
11900,11900,11900,11900,11900,11900,11900,11900,9908,Anterior creases of earlobe,HPO,phenotype,PHENOTYPE_11900
11901,11901,11901,11901,11901,11901,11901,11901,45026,Abnormal mediastinum morphology,HPO,phenotype,PHENOTYPE_11901
11902,11902,11902,11902,11902,11902,11902,11902,2195,Dysgenesis of the cerebellar vermis,HPO,phenotype,PHENOTYPE_11902
11903,11903,11903,11903,11903,11903,11903,11903,25159,Hypoautofluorescent retinal lesion,HPO,phenotype,PHENOTYPE_11903
11904,11904,11904,11904,11904,11904,11904,11904,9735,Spinal neurofibroma,HPO,phenotype,PHENOTYPE_11904
11905,11905,11905,11905,11905,11905,11905,11905,20128,Aplasia of the olfactory tract,HPO,phenotype,PHENOTYPE_11905
11906,11906,11906,11906,11906,11906,11906,11906,200059,Metastatic angiosarcoma,HPO,phenotype,PHENOTYPE_11906
11907,11907,11907,11907,11907,11907,11907,11907,31217,Hot flashes,HPO,phenotype,PHENOTYPE_11907
11908,11908,11908,11908,11908,11908,11908,11908,30085,Abnormal CSF lactate concentration,HPO,phenotype,PHENOTYPE_11908
11909,11909,11909,11909,11909,11909,11909,11909,31631,Subpleural honeycombing,HPO,phenotype,PHENOTYPE_11909
11910,11910,11910,11910,11910,11910,11910,11910,4005,Large radial epiphyses,HPO,phenotype,PHENOTYPE_11910
11911,11911,11911,11911,11911,11911,11911,11911,30961,Microspherophakia,HPO,phenotype,PHENOTYPE_11911
11912,11912,11912,11912,11912,11912,11912,11912,8887,Adipose tissue loss,HPO,phenotype,PHENOTYPE_11912
11913,11913,11913,11913,11913,11913,11913,11913,33590,Inguinal abscess,HPO,phenotype,PHENOTYPE_11913
11914,11914,11914,11914,11914,11914,11914,11914,5200125,Aggression towards others,HPO,phenotype,PHENOTYPE_11914
11915,11915,11915,11915,11915,11915,11915,11915,34006,Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio,HPO,phenotype,PHENOTYPE_11915
11916,11916,11916,11916,11916,11916,11916,11916,6000623,Elevated urinary N-carbamyl-beta-aminoisobutyric acid level,HPO,phenotype,PHENOTYPE_11916
11917,11917,11917,11917,11917,11917,11917,11917,33736,Grade II vesicoureteral reflux,HPO,phenotype,PHENOTYPE_11917
11918,11918,11918,11918,11918,11918,11918,11918,6001096,Decreased T-cell ZAP-70 protein expression in CD4-positive T cells,HPO,phenotype,PHENOTYPE_11918
11919,11919,11919,11919,11919,11919,11919,11919,8625,Severe sensorineural hearing impairment,HPO,phenotype,PHENOTYPE_11919
11920,11920,11920,11920,11920,11920,11920,11920,31558,Reduced fibroblast CD59 level,HPO,phenotype,PHENOTYPE_11920
11921,11921,11921,11921,11921,11921,11921,11921,12735,Cough,HPO,phenotype,PHENOTYPE_11921
11922,11922,11922,11922,11922,11922,11922,11922,6509,Diverticulosis of trachea,HPO,phenotype,PHENOTYPE_11922
11923,11923,11923,11923,11923,11923,11923,11923,33159,Reduced urinary inosine level,HPO,phenotype,PHENOTYPE_11923
11924,11924,11924,11924,11924,11924,11924,11924,6499,Abnormal femoral epiphysis morphology,HPO,phenotype,PHENOTYPE_11924
11925,11925,11925,11925,11925,11925,11925,11925,1007,Hirsutism,HPO,phenotype,PHENOTYPE_11925
11926,11926,11926,11926,11926,11926,11926,11926,6000751,Decreased urinary dopamine level,HPO,phenotype,PHENOTYPE_11926
11927,11927,11927,11927,11927,11927,11927,11927,31530,Multifocal subretinal deposits,HPO,phenotype,PHENOTYPE_11927
11928,11928,11928,11928,11928,11928,11928,11928,1543,Gastroschisis,HPO,phenotype,PHENOTYPE_11928
11929,11929,11929,11929,11929,11929,11929,11929,5201013,Microform bilateral cleft lip,HPO,phenotype,PHENOTYPE_11929
11930,11930,11930,11930,11930,11930,11930,11930,4599,Absent or minimally ossified vertebral bodies,HPO,phenotype,PHENOTYPE_11930
11931,11931,11931,11931,11931,11931,11931,11931,11649,Patent ductus arteriosus after premature birth,HPO,phenotype,PHENOTYPE_11931
11932,11932,11932,11932,11932,11932,11932,11932,100601,Eclampsia,HPO,phenotype,PHENOTYPE_11932
11933,11933,11933,11933,11933,11933,11933,11933,100318,Lafora bodies,HPO,phenotype,PHENOTYPE_11933
11934,11934,11934,11934,11934,11934,11934,11934,4000181,Excessive dental attrition,HPO,phenotype,PHENOTYPE_11934
11935,11935,11935,11935,11935,11935,11935,11935,6679,Granulomatous coronary arteritis,HPO,phenotype,PHENOTYPE_11935
11936,11936,11936,11936,11936,11936,11936,11936,6000493,Anti-factor VII antibody positivity,HPO,phenotype,PHENOTYPE_11936
11937,11937,11937,11937,11937,11937,11937,11937,30646,Peripheral,HPO,phenotype,PHENOTYPE_11937
11938,11938,11938,11938,11938,11938,11938,11938,25251,Open comedo,HPO,phenotype,PHENOTYPE_11938
11939,11939,11939,11939,11939,11939,11939,11939,10413,Aplasia/Hypoplasia of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_11939
11940,11940,11940,11940,11940,11940,11940,11940,100648,Neoplasm of the tongue,HPO,phenotype,PHENOTYPE_11940
11941,11941,11941,11941,11941,11941,11941,11941,500139,Hypoprolinemia,HPO,phenotype,PHENOTYPE_11941
11942,11942,11942,11942,11942,11942,11942,11942,33240,Elevated RV/TLC ratio,HPO,phenotype,PHENOTYPE_11942
11943,11943,11943,11943,11943,11943,11943,11943,100698,Subcutaneous neurofibroma,HPO,phenotype,PHENOTYPE_11943
11944,11944,11944,11944,11944,11944,11944,11944,32216,Lymphocytic infiltration of the colorectal mucosa,HPO,phenotype,PHENOTYPE_11944
11945,11945,11945,11945,11945,11945,11945,11945,12621,Persistent cloaca,HPO,phenotype,PHENOTYPE_11945
11946,11946,11946,11946,11946,11946,11946,11946,3401,Paresthesia,HPO,phenotype,PHENOTYPE_11946
11947,11947,11947,11947,11947,11947,11947,11947,8929,Asymmetric short stature,HPO,phenotype,PHENOTYPE_11947
11948,11948,11948,11948,11948,11948,11948,11948,100559,Lower limb asymmetry,HPO,phenotype,PHENOTYPE_11948
11949,11949,11949,11949,11949,11949,11949,11949,31832,Hypermetric downward saccades,HPO,phenotype,PHENOTYPE_11949
11950,11950,11950,11950,11950,11950,11950,11950,31202,Waxy casts,HPO,phenotype,PHENOTYPE_11950
11951,11951,11951,11951,11951,11951,11951,11951,34017,Anti-class I HLA antibody positivity,HPO,phenotype,PHENOTYPE_11951
11952,11952,11952,11952,11952,11952,11952,11952,41094,Complete tracheal ring,HPO,phenotype,PHENOTYPE_11952
11953,11953,11953,11953,11953,11953,11953,11953,10383,Aplasia/Hypoplasia of the phalanges of the 5th toe,HPO,phenotype,PHENOTYPE_11953
11954,11954,11954,11954,11954,11954,11954,11954,1810,Dystrophic toenail,HPO,phenotype,PHENOTYPE_11954
11955,11955,11955,11955,11955,11955,11955,11955,871,Panhypopituitarism,HPO,phenotype,PHENOTYPE_11955
11956,11956,11956,11956,11956,11956,11956,11956,5671,Bilateral intracerebral calcifications,HPO,phenotype,PHENOTYPE_11956
11957,11957,11957,11957,11957,11957,11957,11957,967,Petechiae,HPO,phenotype,PHENOTYPE_11957
11958,11958,11958,11958,11958,11958,11958,11958,31549,Lymphocytoma cutis,HPO,phenotype,PHENOTYPE_11958
11959,11959,11959,11959,11959,11959,11959,11959,12041,Decreased fertility in males,HPO,phenotype,PHENOTYPE_11959
11960,11960,11960,11960,11960,11960,11960,11960,10688,Low placental alkaline phosphatase,HPO,phenotype,PHENOTYPE_11960
11961,11961,11961,11961,11961,11961,11961,11961,30742,Glial remnants posterior to lens,HPO,phenotype,PHENOTYPE_11961
11962,11962,11962,11962,11962,11962,11962,11962,3287,Abnormality of mitochondrial metabolism,HPO,phenotype,PHENOTYPE_11962
11963,11963,11963,11963,11963,11963,11963,11963,30384,Decreased proportion of marginal zone B cells,HPO,phenotype,PHENOTYPE_11963
11964,11964,11964,11964,11964,11964,11964,11964,100132,Triangular epiphysis of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_11964
11965,11965,11965,11965,11965,11965,11965,11965,7678,Lacrimal duct stenosis,HPO,phenotype,PHENOTYPE_11965
11966,11966,11966,11966,11966,11966,11966,11966,40273,Adenocarcinoma of the intestines,HPO,phenotype,PHENOTYPE_11966
11967,11967,11967,11967,11967,11967,11967,11967,8635,Urinary bladder wall hypertrophy,HPO,phenotype,PHENOTYPE_11967
11968,11968,11968,11968,11968,11968,11968,11968,32917,Focal aware sexual automatism seizure,HPO,phenotype,PHENOTYPE_11968
11969,11969,11969,11969,11969,11969,11969,11969,978,Bruising susceptibility,HPO,phenotype,PHENOTYPE_11969
11970,11970,11970,11970,11970,11970,11970,11970,200160,Agenesis of maxillary incisor,HPO,phenotype,PHENOTYPE_11970
11971,11971,11971,11971,11971,11971,11971,11971,5999,Ureteral atresia,HPO,phenotype,PHENOTYPE_11971
11972,11972,11972,11972,11972,11972,11972,11972,100435,Bullet-shaped middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_11972
11973,11973,11973,11973,11973,11973,11973,11973,2425,Anarthria,HPO,phenotype,PHENOTYPE_11973
11974,11974,11974,11974,11974,11974,11974,11974,6000726,Scalp nodule,HPO,phenotype,PHENOTYPE_11974
11975,11975,11975,11975,11975,11975,11975,11975,100292,Amyloidosis of peripheral nerves,HPO,phenotype,PHENOTYPE_11975
11976,11976,11976,11976,11976,11976,11976,11976,32577,Clonal T cell receptor rearrangement,HPO,phenotype,PHENOTYPE_11976
11977,11977,11977,11977,11977,11977,11977,11977,33264,Enlarged platelet dense granules,HPO,phenotype,PHENOTYPE_11977
11978,11978,11978,11978,11978,11978,11978,11978,34437,Excessive eye contact,HPO,phenotype,PHENOTYPE_11978
11979,11979,11979,11979,11979,11979,11979,11979,9271,Triangular epiphysis of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_11979
11980,11980,11980,11980,11980,11980,11980,11980,6000327,Thoracic cage flatness,HPO,phenotype,PHENOTYPE_11980
11981,11981,11981,11981,11981,11981,11981,11981,32754,Focal aware sensory seizure,HPO,phenotype,PHENOTYPE_11981
11982,11982,11982,11982,11982,11982,11982,11982,12478,Temporomandibular joint ankylosis,HPO,phenotype,PHENOTYPE_11982
11983,11983,11983,11983,11983,11983,11983,11983,30499,Macular drusen,HPO,phenotype,PHENOTYPE_11983
11984,11984,11984,11984,11984,11984,11984,11984,1046,Intermittent jaundice,HPO,phenotype,PHENOTYPE_11984
11985,11985,11985,11985,11985,11985,11985,11985,32817,Neonatal focal myoclonic seizure,HPO,phenotype,PHENOTYPE_11985
11986,11986,11986,11986,11986,11986,11986,11986,100758,Gangrene,HPO,phenotype,PHENOTYPE_11986
11987,11987,11987,11987,11987,11987,11987,11987,32445,Pulmonary cyst,HPO,phenotype,PHENOTYPE_11987
11988,11988,11988,11988,11988,11988,11988,11988,9058,Increased muscle lipid content,HPO,phenotype,PHENOTYPE_11988
11989,11989,11989,11989,11989,11989,11989,11989,430072,Abnormal circulating beta-carotene concentration,HPO,phenotype,PHENOTYPE_11989
11990,11990,11990,11990,11990,11990,11990,11990,2078,Truncal ataxia,HPO,phenotype,PHENOTYPE_11990
11991,11991,11991,11991,11991,11991,11991,11991,3000031,Abnormality of anterior ethmoidal artery,HPO,phenotype,PHENOTYPE_11991
11992,11992,11992,11992,11992,11992,11992,11992,25667,Fetal neck anomaly,HPO,phenotype,PHENOTYPE_11992
11993,11993,11993,11993,11993,11993,11993,11993,6000406,Diminished circulating reduced nicotinamide adenine dinucleotide (NADH) concentration,HPO,phenotype,PHENOTYPE_11993
11994,11994,11994,11994,11994,11994,11994,11994,33173,Milky appearance of bronchoalveolar lavage fluid,HPO,phenotype,PHENOTYPE_11994
11995,11995,11995,11995,11995,11995,11995,11995,9825,Aplasia involving bones of the extremities,HPO,phenotype,PHENOTYPE_11995
11996,11996,11996,11996,11996,11996,11996,11996,30012,Abnormal female reproductive system physiology,HPO,phenotype,PHENOTYPE_11996
11997,11997,11997,11997,11997,11997,11997,11997,33118,Abnormal right ventricular function,HPO,phenotype,PHENOTYPE_11997
11998,11998,11998,11998,11998,11998,11998,11998,32959,Intratubular calcium oxalate casts,HPO,phenotype,PHENOTYPE_11998
11999,11999,11999,11999,11999,11999,11999,11999,40006,Mortality/Aging,HPO,phenotype,PHENOTYPE_11999
12000,12000,12000,12000,12000,12000,12000,12000,32295,Monoclonal elevation of IgG lambda chain,HPO,phenotype,PHENOTYPE_12000
12001,12001,12001,12001,12001,12001,12001,12001,6001166,Spongiosis,HPO,phenotype,PHENOTYPE_12001
12002,12002,12002,12002,12002,12002,12002,12002,8660,Renotubular dysgenesis,HPO,phenotype,PHENOTYPE_12002
12003,12003,12003,12003,12003,12003,12003,12003,843,Hyperparathyroidism,HPO,phenotype,PHENOTYPE_12003
12004,12004,12004,12004,12004,12004,12004,12004,8994,Proximal muscle weakness in lower limbs,HPO,phenotype,PHENOTYPE_12004
12005,12005,12005,12005,12005,12005,12005,12005,4631,Decreased cervical spine flexion due to contractures of posterior cervical muscles,HPO,phenotype,PHENOTYPE_12005
12006,12006,12006,12006,12006,12006,12006,12006,8189,Insulin insensitivity,HPO,phenotype,PHENOTYPE_12006
12007,12007,12007,12007,12007,12007,12007,12007,12797,Lymphatic vessel neoplasm,HPO,phenotype,PHENOTYPE_12007
12008,12008,12008,12008,12008,12008,12008,12008,8134,Irregular tarsal ossification,HPO,phenotype,PHENOTYPE_12008
12009,12009,12009,12009,12009,12009,12009,12009,6362,Varus deformity of humeral neck,HPO,phenotype,PHENOTYPE_12009
12010,12010,12010,12010,12010,12010,12010,12010,4311,Abnormal macrophage morphology,HPO,phenotype,PHENOTYPE_12010
12011,12011,12011,12011,12011,12011,12011,12011,12062,Bone cyst,HPO,phenotype,PHENOTYPE_12011
12012,12012,12012,12012,12012,12012,12012,12012,8770,Obsessive-compulsive trait,HPO,phenotype,PHENOTYPE_12012
12013,12013,12013,12013,12013,12013,12013,12013,500254,Abnormal urine hexanoylglycine concentration,HPO,phenotype,PHENOTYPE_12013
12014,12014,12014,12014,12014,12014,12014,12014,25004,Hallux rigidus,HPO,phenotype,PHENOTYPE_12014
12015,12015,12015,12015,12015,12015,12015,12015,11947,Respiratory tract infection,HPO,phenotype,PHENOTYPE_12015
12016,12016,12016,12016,12016,12016,12016,12016,25215,Triggered by febrile illness,HPO,phenotype,PHENOTYPE_12016
12017,12017,12017,12017,12017,12017,12017,12017,34669,Abnormal knee morphology,HPO,phenotype,PHENOTYPE_12017
12018,12018,12018,12018,12018,12018,12018,12018,33413,Upper extremity hypokinesia,HPO,phenotype,PHENOTYPE_12018
12019,12019,12019,12019,12019,12019,12019,12019,1636,Tetralogy of Fallot,HPO,phenotype,PHENOTYPE_12019
12020,12020,12020,12020,12020,12020,12020,12020,100208,Ivory epiphysis of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_12020
12021,12021,12021,12021,12021,12021,12021,12021,31949,Recurrent bacterial upper respiratory tract infections,HPO,phenotype,PHENOTYPE_12021
12022,12022,12022,12022,12022,12022,12022,12022,6000846,Beaded bile ducts,HPO,phenotype,PHENOTYPE_12022
12023,12023,12023,12023,12023,12023,12023,12023,11207,EEG with generalized slow activity grade 2,HPO,phenotype,PHENOTYPE_12023
12024,12024,12024,12024,12024,12024,12024,12024,7511,Mottled pigmentation of photoexposed areas,HPO,phenotype,PHENOTYPE_12024
12025,12025,12025,12025,12025,12025,12025,12025,12223,Splenic rupture,HPO,phenotype,PHENOTYPE_12025
12026,12026,12026,12026,12026,12026,12026,12026,100475,Symphalangism affecting the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_12026
12027,12027,12027,12027,12027,12027,12027,12027,9025,Increased connective tissue,HPO,phenotype,PHENOTYPE_12027
12028,12028,12028,12028,12028,12028,12028,12028,1898,Increased red blood cell mass,HPO,phenotype,PHENOTYPE_12028
12029,12029,12029,12029,12029,12029,12029,12029,30828,Wheezing,HPO,phenotype,PHENOTYPE_12029
12030,12030,12030,12030,12030,12030,12030,12030,1904,Neutropenia in presence of anti-neutropil antibodies,HPO,phenotype,PHENOTYPE_12030
12031,12031,12031,12031,12031,12031,12031,12031,12646,Retractile testis,HPO,phenotype,PHENOTYPE_12031
12032,12032,12032,12032,12032,12032,12032,12032,33373,Increased KCO,HPO,phenotype,PHENOTYPE_12032
12033,12033,12033,12033,12033,12033,12033,12033,6530,Abnormal pulmonary interstitial morphology,HPO,phenotype,PHENOTYPE_12033
12034,12034,12034,12034,12034,12034,12034,12034,410262,Lower cranial nerve dysfunction,HPO,phenotype,PHENOTYPE_12034
12035,12035,12035,12035,12035,12035,12035,12035,31953,Cautious gait,HPO,phenotype,PHENOTYPE_12035
12036,12036,12036,12036,12036,12036,12036,12036,6520,Progressive pulmonary function impairment,HPO,phenotype,PHENOTYPE_12036
12037,12037,12037,12037,12037,12037,12037,12037,3000060,Abnormal infraorbital artery morphology,HPO,phenotype,PHENOTYPE_12037
12038,12038,12038,12038,12038,12038,12038,12038,10119,Ivory epiphyses of the hallux,HPO,phenotype,PHENOTYPE_12038
12039,12039,12039,12039,12039,12039,12039,12039,12559,Increased T3/T4 ratio,HPO,phenotype,PHENOTYPE_12039
12040,12040,12040,12040,12040,12040,12040,12040,33970,Interlobular vein intima/media liquefactive necrosis,HPO,phenotype,PHENOTYPE_12040
12041,12041,12041,12041,12041,12041,12041,12041,1598,Concave nail,HPO,phenotype,PHENOTYPE_12041
12042,12042,12042,12042,12042,12042,12042,12042,6000985,Saddle-back type ST segment elevation,HPO,phenotype,PHENOTYPE_12042
12043,12043,12043,12043,12043,12043,12043,12043,6162,Soft tissue swelling of interphalangeal joints,HPO,phenotype,PHENOTYPE_12043
12044,12044,12044,12044,12044,12044,12044,12044,4699,Osteoporotic metatarsal,HPO,phenotype,PHENOTYPE_12044
12045,12045,12045,12045,12045,12045,12045,12045,20170,Increased blood drug concentration,HPO,phenotype,PHENOTYPE_12045
12046,12046,12046,12046,12046,12046,12046,12046,6000482,Decreased circulating catecholamine concentration,HPO,phenotype,PHENOTYPE_12046
12047,12047,12047,12047,12047,12047,12047,12047,100527,Neoplasia of the pleura,HPO,phenotype,PHENOTYPE_12047
12048,12048,12048,12048,12048,12048,12048,12048,9676,Bracket epiphysis of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_12048
12049,12049,12049,12049,12049,12049,12049,12049,31228,Abnormal incisura morphology,HPO,phenotype,PHENOTYPE_12049
12050,12050,12050,12050,12050,12050,12050,12050,33975,Absent second fingernail,HPO,phenotype,PHENOTYPE_12050
12051,12051,12051,12051,12051,12051,12051,12051,8479,Hypoplastic vertebral bodies,HPO,phenotype,PHENOTYPE_12051
12052,12052,12052,12052,12052,12052,12052,12052,12769,Abnormal arm span,HPO,phenotype,PHENOTYPE_12052
12053,12053,12053,12053,12053,12053,12053,12053,11212,EEG with photoparoxysmal response grade II,HPO,phenotype,PHENOTYPE_12053
12054,12054,12054,12054,12054,12054,12054,12054,10353,Second toe symphalangism,HPO,phenotype,PHENOTYPE_12054
12055,12055,12055,12055,12055,12055,12055,12055,433,Abnormal nasal mucosa morphology,HPO,phenotype,PHENOTYPE_12055
12056,12056,12056,12056,12056,12056,12056,12056,786,Primary amenorrhea,HPO,phenotype,PHENOTYPE_12056
12057,12057,12057,12057,12057,12057,12057,12057,30154,Gallbladder perforation,HPO,phenotype,PHENOTYPE_12057
12058,12058,12058,12058,12058,12058,12058,12058,33422,Pulmonary artery adventitial fibrosis,HPO,phenotype,PHENOTYPE_12058
12059,12059,12059,12059,12059,12059,12059,12059,9214,Absent epiphysis of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_12059
12060,12060,12060,12060,12060,12060,12060,12060,31855,Right isomerism,HPO,phenotype,PHENOTYPE_12060
12061,12061,12061,12061,12061,12061,12061,12061,32737,Focal emotional seizure with paranoia,HPO,phenotype,PHENOTYPE_12061
12062,12062,12062,12062,12062,12062,12062,12062,40195,Decreased head circumference,HPO,phenotype,PHENOTYPE_12062
12063,12063,12063,12063,12063,12063,12063,12063,30205,Increased jitter at single fiber EMG,HPO,phenotype,PHENOTYPE_12063
12064,12064,12064,12064,12064,12064,12064,12064,30443,Anal margin basal cell carcinoma,HPO,phenotype,PHENOTYPE_12064
12065,12065,12065,12065,12065,12065,12065,12065,32818,Neonatal focal clonic seizure,HPO,phenotype,PHENOTYPE_12065
12066,12066,12066,12066,12066,12066,12066,12066,4046,Spurred ulnar metaphysis,HPO,phenotype,PHENOTYPE_12066
12067,12067,12067,12067,12067,12067,12067,12067,4000048,Comminuted fracture,HPO,phenotype,PHENOTYPE_12067
12068,12068,12068,12068,12068,12068,12068,12068,34761,Neurofibroma by anatomical location,HPO,phenotype,PHENOTYPE_12068
12069,12069,12069,12069,12069,12069,12069,12069,2050,"Macroorchidism, postpubertal",HPO,phenotype,PHENOTYPE_12069
12070,12070,12070,12070,12070,12070,12070,12070,2822,Hyperplasia of the femoral trochanters,HPO,phenotype,PHENOTYPE_12070
12071,12071,12071,12071,12071,12071,12071,12071,11138,Abnormal skin adnexa morphology,HPO,phenotype,PHENOTYPE_12071
12072,12072,12072,12072,12072,12072,12072,12072,6000066,Triggered by extension of leg,HPO,phenotype,PHENOTYPE_12072
12073,12073,12073,12073,12073,12073,12073,12073,3320,C1-C2 subluxation,HPO,phenotype,PHENOTYPE_12073
12074,12074,12074,12074,12074,12074,12074,12074,3394,Muscle spasm,HPO,phenotype,PHENOTYPE_12074
12075,12075,12075,12075,12075,12075,12075,12075,11209,EEG with generalized slow activity grade 4,HPO,phenotype,PHENOTYPE_12075
12076,12076,12076,12076,12076,12076,12076,12076,31717,Alternating exotropia,HPO,phenotype,PHENOTYPE_12076
12077,12077,12077,12077,12077,12077,12077,12077,410197,Increased erythrocyte UDP glucose-4-epimerase concentration,HPO,phenotype,PHENOTYPE_12077
12078,12078,12078,12078,12078,12078,12078,12078,2780,Bronchomalacia,HPO,phenotype,PHENOTYPE_12078
12079,12079,12079,12079,12079,12079,12079,12079,11369,Mongolian blue spot,HPO,phenotype,PHENOTYPE_12079
12080,12080,12080,12080,12080,12080,12080,12080,9979,Complete duplication of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_12080
12081,12081,12081,12081,12081,12081,12081,12081,7565,Multiple cafe-au-lait spots,HPO,phenotype,PHENOTYPE_12081
12082,12082,12082,12082,12082,12082,12082,12082,11319,Bilambdoid synostosis,HPO,phenotype,PHENOTYPE_12082
12083,12083,12083,12083,12083,12083,12083,12083,5200134,Jumping,HPO,phenotype,PHENOTYPE_12083
12084,12084,12084,12084,12084,12084,12084,12084,6001055,Palpable thrill on extremity,HPO,phenotype,PHENOTYPE_12084
12085,12085,12085,12085,12085,12085,12085,12085,33872,Cortical peritubular capillary lumen cholesterol emboli,HPO,phenotype,PHENOTYPE_12085
12086,12086,12086,12086,12086,12086,12086,12086,100148,Cone-shaped epiphysis of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_12086
12087,12087,12087,12087,12087,12087,12087,12087,5369,Decreased circulating complement factor H concentration,HPO,phenotype,PHENOTYPE_12087
12088,12088,12088,12088,12088,12088,12088,12088,8785,Delayed ossification of pubic rami,HPO,phenotype,PHENOTYPE_12088
12089,12089,12089,12089,12089,12089,12089,12089,31512,Abnormal cutaneous collagen fibril morphology,HPO,phenotype,PHENOTYPE_12089
12090,12090,12090,12090,12090,12090,12090,12090,33307,Increased circulating fetuin A concentration,HPO,phenotype,PHENOTYPE_12090
12091,12091,12091,12091,12091,12091,12091,12091,10649,Flat nasal alae,HPO,phenotype,PHENOTYPE_12091
12092,12092,12092,12092,12092,12092,12092,12092,244,Brachyturricephaly,HPO,phenotype,PHENOTYPE_12092
12093,12093,12093,12093,12093,12093,12093,12093,100078,Bracket epiphyses of the 5th toe,HPO,phenotype,PHENOTYPE_12093
12094,12094,12094,12094,12094,12094,12094,12094,6369,Irregular patellae,HPO,phenotype,PHENOTYPE_12094
12095,12095,12095,12095,12095,12095,12095,12095,5201009,Complete cleft of the upper lip,HPO,phenotype,PHENOTYPE_12095
12096,12096,12096,12096,12096,12096,12096,12096,11327,Posterior plagiocephaly,HPO,phenotype,PHENOTYPE_12096
12097,12097,12097,12097,12097,12097,12097,12097,33617,Supernumerary tracheal bronchus,HPO,phenotype,PHENOTYPE_12097
12098,12098,12098,12098,12098,12098,12098,12098,34699,Elevated aromatase activity,HPO,phenotype,PHENOTYPE_12098
12099,12099,12099,12099,12099,12099,12099,12099,20112,Increased proportion of CD4+CD25+ regulatory T cells,HPO,phenotype,PHENOTYPE_12099
12100,12100,12100,12100,12100,12100,12100,12100,10872,T-wave inversion,HPO,phenotype,PHENOTYPE_12100
12101,12101,12101,12101,12101,12101,12101,12101,100302,Muscle fiber tubuloreticular inclusions,HPO,phenotype,PHENOTYPE_12101
12102,12102,12102,12102,12102,12102,12102,12102,25558,Lamellar cataract with riders,HPO,phenotype,PHENOTYPE_12102
12103,12103,12103,12103,12103,12103,12103,12103,12151,Hemothorax,HPO,phenotype,PHENOTYPE_12103
12104,12104,12104,12104,12104,12104,12104,12104,500200,Increased CSF glutamate concentration,HPO,phenotype,PHENOTYPE_12104
12105,12105,12105,12105,12105,12105,12105,12105,1104,Macular hypoplasia,HPO,phenotype,PHENOTYPE_12105
12106,12106,12106,12106,12106,12106,12106,12106,5043,Proximal humeral metaphyseal irregularity,HPO,phenotype,PHENOTYPE_12106
12107,12107,12107,12107,12107,12107,12107,12107,34474,Increased fecal pentacarboxylporphyrin,HPO,phenotype,PHENOTYPE_12107
12108,12108,12108,12108,12108,12108,12108,12108,6217,Limited mobility of proximal interphalangeal joint,HPO,phenotype,PHENOTYPE_12108
12109,12109,12109,12109,12109,12109,12109,12109,33174,Bloody bronchoalveolar lavage fluid,HPO,phenotype,PHENOTYPE_12109
12110,12110,12110,12110,12110,12110,12110,12110,3931,Periosteal new bone of humeral diaphysis,HPO,phenotype,PHENOTYPE_12110
12111,12111,12111,12111,12111,12111,12111,12111,4594,Hump-shaped mound of bone in central and posterior portions of vertebral endplate,HPO,phenotype,PHENOTYPE_12111
12112,12112,12112,12112,12112,12112,12112,12112,31346,Rectal arteriovenous malformation,HPO,phenotype,PHENOTYPE_12112
12113,12113,12113,12113,12113,12113,12113,12113,2936,Distal sensory impairment,HPO,phenotype,PHENOTYPE_12113
12114,12114,12114,12114,12114,12114,12114,12114,32314,Abnormal areolar morphology,HPO,phenotype,PHENOTYPE_12114
12115,12115,12115,12115,12115,12115,12115,12115,5102,Cochlear degeneration,HPO,phenotype,PHENOTYPE_12115
12116,12116,12116,12116,12116,12116,12116,12116,987,Atypical scarring of skin,HPO,phenotype,PHENOTYPE_12116
12117,12117,12117,12117,12117,12117,12117,12117,737,Irritability,HPO,phenotype,PHENOTYPE_12117
12118,12118,12118,12118,12118,12118,12118,12118,33639,Septic pulmonary embolism,HPO,phenotype,PHENOTYPE_12118
12119,12119,12119,12119,12119,12119,12119,12119,5000007,Anti-DPPX antibody,HPO,phenotype,PHENOTYPE_12119
12120,12120,12120,12120,12120,12120,12120,12120,30123,Abnormal muscle fiber lamin A/C,HPO,phenotype,PHENOTYPE_12120
12121,12121,12121,12121,12121,12121,12121,12121,40311,Symmetric polyarthritis,HPO,phenotype,PHENOTYPE_12121
12122,12122,12122,12122,12122,12122,12122,12122,9917,Persistent pupillary membrane,HPO,phenotype,PHENOTYPE_12122
12123,12123,12123,12123,12123,12123,12123,12123,10488,Aplasia/Hypoplasia of the palmar creases,HPO,phenotype,PHENOTYPE_12123
12124,12124,12124,12124,12124,12124,12124,12124,32834,Neonatal seizure with unilateral automatism,HPO,phenotype,PHENOTYPE_12124
12125,12125,12125,12125,12125,12125,12125,12125,10396,Broad proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_12125
12126,12126,12126,12126,12126,12126,12126,12126,34801,Epidermal necrosis,HPO,phenotype,PHENOTYPE_12126
12127,12127,12127,12127,12127,12127,12127,12127,5200200,Olfactory hallucination,HPO,phenotype,PHENOTYPE_12127
12128,12128,12128,12128,12128,12128,12128,12128,12516,Tetralogy of Fallot with pulmonary atresia,HPO,phenotype,PHENOTYPE_12128
12129,12129,12129,12129,12129,12129,12129,12129,9337,Cone-shaped epiphysis of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_12129
12130,12130,12130,12130,12130,12130,12130,12130,30130,Impaired von Willebrand factor collagen binding activity,HPO,phenotype,PHENOTYPE_12130
12131,12131,12131,12131,12131,12131,12131,12131,100478,Symphalangism affecting the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_12131
12132,12132,12132,12132,12132,12132,12132,12132,25684,Decreased amyloid beta 42 peptide CSF concentration,HPO,phenotype,PHENOTYPE_12132
12133,12133,12133,12133,12133,12133,12133,12133,33990,Cartilaginous tracheobronchomalacia,HPO,phenotype,PHENOTYPE_12133
12134,12134,12134,12134,12134,12134,12134,12134,100661,Trigeminal neuralgia,HPO,phenotype,PHENOTYPE_12134
12135,12135,12135,12135,12135,12135,12135,12135,32329,Increased urinary 11-deoxycortisol level,HPO,phenotype,PHENOTYPE_12135
12136,12136,12136,12136,12136,12136,12136,12136,30550,Unaided visual acuity 3.0 LogMAR,HPO,phenotype,PHENOTYPE_12136
12137,12137,12137,12137,12137,12137,12137,12137,31959,Leg dystonia,HPO,phenotype,PHENOTYPE_12137
12138,12138,12138,12138,12138,12138,12138,12138,6210,Postaxial oligodactyly,HPO,phenotype,PHENOTYPE_12138
12139,12139,12139,12139,12139,12139,12139,12139,992,Cutaneous photosensitivity,HPO,phenotype,PHENOTYPE_12139
12140,12140,12140,12140,12140,12140,12140,12140,33261,Renal artery aneurysm,HPO,phenotype,PHENOTYPE_12140
12141,12141,12141,12141,12141,12141,12141,12141,33468,10-minute APGAR score of 0,HPO,phenotype,PHENOTYPE_12141
12142,12142,12142,12142,12142,12142,12142,12142,40284,Very rare,HPO,phenotype,PHENOTYPE_12142
12143,12143,12143,12143,12143,12143,12143,12143,6001088,Fungal hair infection,HPO,phenotype,PHENOTYPE_12143
12144,12144,12144,12144,12144,12144,12144,12144,2832,Calcific stippling,HPO,phenotype,PHENOTYPE_12144
12145,12145,12145,12145,12145,12145,12145,12145,9453,Osteolytic defects of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_12145
12146,12146,12146,12146,12146,12146,12146,12146,410359,Abnormal core 1 O-glycan level,HPO,phenotype,PHENOTYPE_12146
12147,12147,12147,12147,12147,12147,12147,12147,534,Abnormal eyebrow morphology,HPO,phenotype,PHENOTYPE_12147
12148,12148,12148,12148,12148,12148,12148,12148,34749,Fungal bloodstream infection,HPO,phenotype,PHENOTYPE_12148
12149,12149,12149,12149,12149,12149,12149,12149,11198,EEG with generalized epileptiform discharges,HPO,phenotype,PHENOTYPE_12149
12150,12150,12150,12150,12150,12150,12150,12150,410060,Decreased level of D-mannose in urine,HPO,phenotype,PHENOTYPE_12150
12151,12151,12151,12151,12151,12151,12151,12151,11367,Yellow nails,HPO,phenotype,PHENOTYPE_12151
12152,12152,12152,12152,12152,12152,12152,12152,100837,Atrophodermia vermiculata,HPO,phenotype,PHENOTYPE_12152
12153,12153,12153,12153,12153,12153,12153,12153,12031,Lipomatous tumor,HPO,phenotype,PHENOTYPE_12153
12154,12154,12154,12154,12154,12154,12154,12154,6566,Neonatal cholestatic liver disease,HPO,phenotype,PHENOTYPE_12154
12155,12155,12155,12155,12155,12155,12155,12155,3168,Dibasicaminoaciduria,HPO,phenotype,PHENOTYPE_12155
12156,12156,12156,12156,12156,12156,12156,12156,100958,Narrow foramen obturatorium,HPO,phenotype,PHENOTYPE_12156
12157,12157,12157,12157,12157,12157,12157,12157,1437,Abnormality of the musculature of the lower limbs,HPO,phenotype,PHENOTYPE_12157
12158,12158,12158,12158,12158,12158,12158,12158,1311,Abnormal nervous system electrophysiology,HPO,phenotype,PHENOTYPE_12158
12159,12159,12159,12159,12159,12159,12159,12159,6001017,Rapid gastric emptying,HPO,phenotype,PHENOTYPE_12159
12160,12160,12160,12160,12160,12160,12160,12160,10328,Polydactyly affecting the 2nd toe,HPO,phenotype,PHENOTYPE_12160
12161,12161,12161,12161,12161,12161,12161,12161,7817,Horizontal supranuclear gaze palsy,HPO,phenotype,PHENOTYPE_12161
12162,12162,12162,12162,12162,12162,12162,12162,30296,Metaphyseal chondromatosis of radius,HPO,phenotype,PHENOTYPE_12162
12163,12163,12163,12163,12163,12163,12163,12163,5200427,Delusional atmosphere,HPO,phenotype,PHENOTYPE_12163
12164,12164,12164,12164,12164,12164,12164,12164,31001,Minifascicle formation,HPO,phenotype,PHENOTYPE_12164
12165,12165,12165,12165,12165,12165,12165,12165,4885,Episodic respiratory distress,HPO,phenotype,PHENOTYPE_12165
12166,12166,12166,12166,12166,12166,12166,12166,34851,Fetal metronidazole exposure,HPO,phenotype,PHENOTYPE_12166
12167,12167,12167,12167,12167,12167,12167,12167,20140,History of recent tick bite,HPO,phenotype,PHENOTYPE_12167
12168,12168,12168,12168,12168,12168,12168,12168,25272,Melasma,HPO,phenotype,PHENOTYPE_12168
12169,12169,12169,12169,12169,12169,12169,12169,5200063,Gustatory sensory seeking,HPO,phenotype,PHENOTYPE_12169
12170,12170,12170,12170,12170,12170,12170,12170,10014,Abnormality of the epiphysis of the 1st metacarpal,HPO,phenotype,PHENOTYPE_12170
12171,12171,12171,12171,12171,12171,12171,12171,10767,Sacrococcygeal pilonidal abnormality,HPO,phenotype,PHENOTYPE_12171
12172,12172,12172,12172,12172,12172,12172,12172,6000997,Intranasal mass,HPO,phenotype,PHENOTYPE_12172
12173,12173,12173,12173,12173,12173,12173,12173,30122,Reduced muscle fiber perlecan,HPO,phenotype,PHENOTYPE_12173
12174,12174,12174,12174,12174,12174,12174,12174,6000002,Olecranon fracture,HPO,phenotype,PHENOTYPE_12174
12175,12175,12175,12175,12175,12175,12175,12175,6000451,Porcelain gallbladder,HPO,phenotype,PHENOTYPE_12175
12176,12176,12176,12176,12176,12176,12176,12176,12612,Abnormal urinary sulfate concentration,HPO,phenotype,PHENOTYPE_12176
12177,12177,12177,12177,12177,12177,12177,12177,200097,Oral mucosal blisters,HPO,phenotype,PHENOTYPE_12177
12178,12178,12178,12178,12178,12178,12178,12178,40291,Skeletal muscle steatosis,HPO,phenotype,PHENOTYPE_12178
12179,12179,12179,12179,12179,12179,12179,12179,430004,Frontomalar faciosynostosis,HPO,phenotype,PHENOTYPE_12179
12180,12180,12180,12180,12180,12180,12180,12180,5200211,Subjective eidetic images,HPO,phenotype,PHENOTYPE_12180
12181,12181,12181,12181,12181,12181,12181,12181,11715,Trifascicular block,HPO,phenotype,PHENOTYPE_12181
12182,12182,12182,12182,12182,12182,12182,12182,6863,Severe expressive language delay,HPO,phenotype,PHENOTYPE_12182
12183,12183,12183,12183,12183,12183,12183,12183,9720,Adenoma sebaceum,HPO,phenotype,PHENOTYPE_12183
12184,12184,12184,12184,12184,12184,12184,12184,32139,Reduced isohemagglutinin level,HPO,phenotype,PHENOTYPE_12184
12185,12185,12185,12185,12185,12185,12185,12185,33765,Death in late adulthood,HPO,phenotype,PHENOTYPE_12185
12186,12186,12186,12186,12186,12186,12186,12186,5559,Abnormality of the kinin-kallikrein system,HPO,phenotype,PHENOTYPE_12186
12187,12187,12187,12187,12187,12187,12187,12187,9784,Aplasia/Hypoplasia of the triceps,HPO,phenotype,PHENOTYPE_12187
12188,12188,12188,12188,12188,12188,12188,12188,9286,Curved distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_12188
12189,12189,12189,12189,12189,12189,12189,12189,1833,Long foot,HPO,phenotype,PHENOTYPE_12189
12190,12190,12190,12190,12190,12190,12190,12190,30305,Decreased number of vertebrae,HPO,phenotype,PHENOTYPE_12190
12191,12191,12191,12191,12191,12191,12191,12191,9507,Irregular epiphysis of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_12191
12192,12192,12192,12192,12192,12192,12192,12192,1026,Penetrating foot ulcers,HPO,phenotype,PHENOTYPE_12192
12193,12193,12193,12193,12193,12193,12193,12193,11555,Double inlet left ventricle,HPO,phenotype,PHENOTYPE_12193
12194,12194,12194,12194,12194,12194,12194,12194,431,Wide nasal bridge,HPO,phenotype,PHENOTYPE_12194
12195,12195,12195,12195,12195,12195,12195,12195,8959,Distal upper limb muscle weakness,HPO,phenotype,PHENOTYPE_12195
12196,12196,12196,12196,12196,12196,12196,12196,4820,Acute myelomonocytic leukemia,HPO,phenotype,PHENOTYPE_12196
12197,12197,12197,12197,12197,12197,12197,12197,31468,Separation insecurity,HPO,phenotype,PHENOTYPE_12197
12198,12198,12198,12198,12198,12198,12198,12198,11559,Double inlet to single ventricle with two atrioventricular valves,HPO,phenotype,PHENOTYPE_12198
12199,12199,12199,12199,12199,12199,12199,12199,100138,Enlarged epiphysis of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_12199
12200,12200,12200,12200,12200,12200,12200,12200,6000905,Positive cutaneous varicella zoster virus nucleic acid test,HPO,phenotype,PHENOTYPE_12200
12201,12201,12201,12201,12201,12201,12201,12201,100202,Absent epiphysis of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_12201
12202,12202,12202,12202,12202,12202,12202,12202,34002,Anti-phospholipase A2 receptor antibody positivity,HPO,phenotype,PHENOTYPE_12202
12203,12203,12203,12203,12203,12203,12203,12203,41114,Fractured metaphysis of femur,HPO,phenotype,PHENOTYPE_12203
12204,12204,12204,12204,12204,12204,12204,12204,31649,Aortic rupture,HPO,phenotype,PHENOTYPE_12204
12205,12205,12205,12205,12205,12205,12205,12205,6000503,4-5 toe cutaneous syndactyly,HPO,phenotype,PHENOTYPE_12205
12206,12206,12206,12206,12206,12206,12206,12206,6408,Distal tapering femur,HPO,phenotype,PHENOTYPE_12206
12207,12207,12207,12207,12207,12207,12207,12207,31383,Abnormal lymphocyte surface marker expression,HPO,phenotype,PHENOTYPE_12207
12208,12208,12208,12208,12208,12208,12208,12208,34071,Anti-21-hydroxylase antibody positivity,HPO,phenotype,PHENOTYPE_12208
12209,12209,12209,12209,12209,12209,12209,12209,7602,Complex palmar dermatoglyphic pattern,HPO,phenotype,PHENOTYPE_12209
12210,12210,12210,12210,12210,12210,12210,12210,11310,Bridged palmar crease,HPO,phenotype,PHENOTYPE_12210
12211,12211,12211,12211,12211,12211,12211,12211,33336,Zygotic cleavage failure,HPO,phenotype,PHENOTYPE_12211
12212,12212,12212,12212,12212,12212,12212,12212,33219,Glomerular hyalinosis away from the vascular and tubular poles,HPO,phenotype,PHENOTYPE_12212
12213,12213,12213,12213,12213,12213,12213,12213,6611,Decreased number of sternal ossification centers,HPO,phenotype,PHENOTYPE_12213
12214,12214,12214,12214,12214,12214,12214,12214,25779,Disorder of thought content,HPO,phenotype,PHENOTYPE_12214
12215,12215,12215,12215,12215,12215,12215,12215,11823,Chin with horizontal crease,HPO,phenotype,PHENOTYPE_12215
12216,12216,12216,12216,12216,12216,12216,12216,25007,Ectopic fovea,HPO,phenotype,PHENOTYPE_12216
12217,12217,12217,12217,12217,12217,12217,12217,30166,Night sweats,HPO,phenotype,PHENOTYPE_12217
12218,12218,12218,12218,12218,12218,12218,12218,4250,Proximally placed lunate,HPO,phenotype,PHENOTYPE_12218
12219,12219,12219,12219,12219,12219,12219,12219,4576,Sclerotic vertebral endplates,HPO,phenotype,PHENOTYPE_12219
12220,12220,12220,12220,12220,12220,12220,12220,7129,Cerebellar medulloblastoma,HPO,phenotype,PHENOTYPE_12220
12221,12221,12221,12221,12221,12221,12221,12221,25123,White streaks/specks on enamel.,HPO,phenotype,PHENOTYPE_12221
12222,12222,12222,12222,12222,12222,12222,12222,100466,Patchy sclerosis of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_12222
12223,12223,12223,12223,12223,12223,12223,12223,8573,Low-frequency sensorineural hearing impairment,HPO,phenotype,PHENOTYPE_12223
12224,12224,12224,12224,12224,12224,12224,12224,10064,Symphalangism affecting the phalanges of the hallux,HPO,phenotype,PHENOTYPE_12224
12225,12225,12225,12225,12225,12225,12225,12225,32317,Family history of cancer,HPO,phenotype,PHENOTYPE_12225
12226,12226,12226,12226,12226,12226,12226,12226,2153,Hyperkalemia,HPO,phenotype,PHENOTYPE_12226
12227,12227,12227,12227,12227,12227,12227,12227,32885,Focal impaired awareness cognitive seizure with hallucination,HPO,phenotype,PHENOTYPE_12227
12228,12228,12228,12228,12228,12228,12228,12228,2572,Episodic vomiting,HPO,phenotype,PHENOTYPE_12228
12229,12229,12229,12229,12229,12229,12229,12229,4934,Vascular calcification,HPO,phenotype,PHENOTYPE_12229
12230,12230,12230,12230,12230,12230,12230,12230,25409,Abnormal spleen physiology,HPO,phenotype,PHENOTYPE_12230
12231,12231,12231,12231,12231,12231,12231,12231,34300,Decreased acid sphingomyelinase activity,HPO,phenotype,PHENOTYPE_12231
12232,12232,12232,12232,12232,12232,12232,12232,6000100,Hyperpolarized transepithelial nasal potential difference,HPO,phenotype,PHENOTYPE_12232
12233,12233,12233,12233,12233,12233,12233,12233,25486,Fused labia majora,HPO,phenotype,PHENOTYPE_12233
12234,12234,12234,12234,12234,12234,12234,12234,25132,Abnormal circulating estrogen level,HPO,phenotype,PHENOTYPE_12234
12235,12235,12235,12235,12235,12235,12235,12235,34690,Reduced short-chain acyl-CoA dehydrogenase activity,HPO,phenotype,PHENOTYPE_12235
12236,12236,12236,12236,12236,12236,12236,12236,40112,Abnormal number of tubercles,HPO,phenotype,PHENOTYPE_12236
12237,12237,12237,12237,12237,12237,12237,12237,33448,Increased mid-arm muscle circumference,HPO,phenotype,PHENOTYPE_12237
12238,12238,12238,12238,12238,12238,12238,12238,6000755,Elevated circulating C-terminal fibroblast growth factor 23 concentration,HPO,phenotype,PHENOTYPE_12238
12239,12239,12239,12239,12239,12239,12239,12239,34737,Abnormal erythrocyte metabolite concentration,HPO,phenotype,PHENOTYPE_12239
12240,12240,12240,12240,12240,12240,12240,12240,6000143,Appendicitis,HPO,phenotype,PHENOTYPE_12240
12241,12241,12241,12241,12241,12241,12241,12241,7917,Tractional retinal detachment,HPO,phenotype,PHENOTYPE_12241
12242,12242,12242,12242,12242,12242,12242,12242,12860,Testicular fibrosis,HPO,phenotype,PHENOTYPE_12242
12243,12243,12243,12243,12243,12243,12243,12243,35027,Elevated circulating methylglutarylcarnitine concentration,HPO,phenotype,PHENOTYPE_12243
12244,12244,12244,12244,12244,12244,12244,12244,32640,Elevated circulating CCL18 level,HPO,phenotype,PHENOTYPE_12244
12245,12245,12245,12245,12245,12245,12245,12245,6000278,Elevated circulating 2-aminoadipic acid concentration,HPO,phenotype,PHENOTYPE_12245
12246,12246,12246,12246,12246,12246,12246,12246,6449,Distal radial epiphyseal osteolysis,HPO,phenotype,PHENOTYPE_12246
12247,12247,12247,12247,12247,12247,12247,12247,34790,Abnormal muscle succinate dehydrogenase staining,HPO,phenotype,PHENOTYPE_12247
12248,12248,12248,12248,12248,12248,12248,12248,30921,5-minute APGAR score of 1,HPO,phenotype,PHENOTYPE_12248
12249,12249,12249,12249,12249,12249,12249,12249,100687,Polyotia,HPO,phenotype,PHENOTYPE_12249
12250,12250,12250,12250,12250,12250,12250,12250,6000259,Positive hydrogen breath test,HPO,phenotype,PHENOTYPE_12250
12251,12251,12251,12251,12251,12251,12251,12251,6000373,Ameliorated by riboflavin,HPO,phenotype,PHENOTYPE_12251
12252,12252,12252,12252,12252,12252,12252,12252,10320,Abnormal third toe morphology,HPO,phenotype,PHENOTYPE_12252
12253,12253,12253,12253,12253,12253,12253,12253,30595,Abnormal static automated perimetry test,HPO,phenotype,PHENOTYPE_12253
12254,12254,12254,12254,12254,12254,12254,12254,12263,Immotile cilia,HPO,phenotype,PHENOTYPE_12254
12255,12255,12255,12255,12255,12255,12255,12255,11343,Moderate global developmental delay,HPO,phenotype,PHENOTYPE_12255
12256,12256,12256,12256,12256,12256,12256,12256,11805,Abnormal skeletal muscle morphology,HPO,phenotype,PHENOTYPE_12256
12257,12257,12257,12257,12257,12257,12257,12257,411,Protruding ear,HPO,phenotype,PHENOTYPE_12257
12258,12258,12258,12258,12258,12258,12258,12258,931,Thinning and bulging of the posterior fossa bones,HPO,phenotype,PHENOTYPE_12258
12259,12259,12259,12259,12259,12259,12259,12259,34854,Periumbilical,HPO,phenotype,PHENOTYPE_12259
12260,12260,12260,12260,12260,12260,12260,12260,10714,2-4 toe syndactyly,HPO,phenotype,PHENOTYPE_12260
12261,12261,12261,12261,12261,12261,12261,12261,31831,Decreased serum zinc,HPO,phenotype,PHENOTYPE_12261
12262,12262,12262,12262,12262,12262,12262,12262,7495,Prematurely aged appearance,HPO,phenotype,PHENOTYPE_12262
12263,12263,12263,12263,12263,12263,12263,12263,31742,Inferior rectus muscle underaction,HPO,phenotype,PHENOTYPE_12263
12264,12264,12264,12264,12264,12264,12264,12264,5352,Severe T-cell immunodeficiency,HPO,phenotype,PHENOTYPE_12264
12265,12265,12265,12265,12265,12265,12265,12265,12189,Hodgkin lymphoma,HPO,phenotype,PHENOTYPE_12265
12266,12266,12266,12266,12266,12266,12266,12266,8239,Adrenal medullary hypoplasia,HPO,phenotype,PHENOTYPE_12266
12267,12267,12267,12267,12267,12267,12267,12267,12731,Ectopic anterior pituitary gland,HPO,phenotype,PHENOTYPE_12267
12268,12268,12268,12268,12268,12268,12268,12268,1396,Cholestasis,HPO,phenotype,PHENOTYPE_12268
12269,12269,12269,12269,12269,12269,12269,12269,4000187,Spermatogonial maturation arrest,HPO,phenotype,PHENOTYPE_12269
12270,12270,12270,12270,12270,12270,12270,12270,9810,Abnormality of upper limb joint,HPO,phenotype,PHENOTYPE_12270
12271,12271,12271,12271,12271,12271,12271,12271,7096,Hypoplasia of the optic tract,HPO,phenotype,PHENOTYPE_12271
12272,12272,12272,12272,12272,12272,12272,12272,2318,Cervical myelopathy,HPO,phenotype,PHENOTYPE_12272
12273,12273,12273,12273,12273,12273,12273,12273,40287,Axial muscle atrophy,HPO,phenotype,PHENOTYPE_12273
12274,12274,12274,12274,12274,12274,12274,12274,33292,Glomerular fibrin thrombus,HPO,phenotype,PHENOTYPE_12274
12275,12275,12275,12275,12275,12275,12275,12275,5000029,Anti-PKCgamma antibody,HPO,phenotype,PHENOTYPE_12275
12276,12276,12276,12276,12276,12276,12276,12276,3244,Penile hypospadias,HPO,phenotype,PHENOTYPE_12276
12277,12277,12277,12277,12277,12277,12277,12277,500234,Decreased CSF alanine concentration,HPO,phenotype,PHENOTYPE_12277
12278,12278,12278,12278,12278,12278,12278,12278,100432,Broad distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_12278
12279,12279,12279,12279,12279,12279,12279,12279,12159,Internal carotid artery dissection,HPO,phenotype,PHENOTYPE_12279
12280,12280,12280,12280,12280,12280,12280,12280,34377,Single atrioventricular valve regurgitation,HPO,phenotype,PHENOTYPE_12280
12281,12281,12281,12281,12281,12281,12281,12281,34765,Renal neurofibroma,HPO,phenotype,PHENOTYPE_12281
12282,12282,12282,12282,12282,12282,12282,12282,10182,Abnormality of the distal phalanges of the toes,HPO,phenotype,PHENOTYPE_12282
12283,12283,12283,12283,12283,12283,12283,12283,917,Superior pectus carinatum,HPO,phenotype,PHENOTYPE_12283
12284,12284,12284,12284,12284,12284,12284,12284,10901,Abnormal circulating methionine concentration,HPO,phenotype,PHENOTYPE_12284
12285,12285,12285,12285,12285,12285,12285,12285,34346,Nesidioblastosis,HPO,phenotype,PHENOTYPE_12285
12286,12286,12286,12286,12286,12286,12286,12286,12736,Profound global developmental delay,HPO,phenotype,PHENOTYPE_12286
12287,12287,12287,12287,12287,12287,12287,12287,10111,Short phalanx of hallux,HPO,phenotype,PHENOTYPE_12287
12288,12288,12288,12288,12288,12288,12288,12288,25018,Abnormal capillary physiology,HPO,phenotype,PHENOTYPE_12288
12289,12289,12289,12289,12289,12289,12289,12289,100080,Enlarged epiphyses of the 5th toe,HPO,phenotype,PHENOTYPE_12289
12290,12290,12290,12290,12290,12290,12290,12290,7541,Frontal cutaneous lipoma,HPO,phenotype,PHENOTYPE_12290
12291,12291,12291,12291,12291,12291,12291,12291,6000626,Recent temporal region trauma,HPO,phenotype,PHENOTYPE_12291
12292,12292,12292,12292,12292,12292,12292,12292,6000398,Decreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentration,HPO,phenotype,PHENOTYPE_12292
12293,12293,12293,12293,12293,12293,12293,12293,6000190,Abnormal seminal vesicle morphology,HPO,phenotype,PHENOTYPE_12293
12294,12294,12294,12294,12294,12294,12294,12294,32500,Exacerbated by tobacco use,HPO,phenotype,PHENOTYPE_12294
12295,12295,12295,12295,12295,12295,12295,12295,11976,Elevated urinary catecholamine level,HPO,phenotype,PHENOTYPE_12295
12296,12296,12296,12296,12296,12296,12296,12296,10410,Symphalangism affecting the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_12296
12297,12297,12297,12297,12297,12297,12297,12297,41060,Chronic partially decreased circulating IgG4,HPO,phenotype,PHENOTYPE_12297
12298,12298,12298,12298,12298,12298,12298,12298,10215,Contractures of the metatarsophalangeal joint of the hallux,HPO,phenotype,PHENOTYPE_12298
12299,12299,12299,12299,12299,12299,12299,12299,11978,Elevated urinary vanillylmandelic acid,HPO,phenotype,PHENOTYPE_12299
12300,12300,12300,12300,12300,12300,12300,12300,6001154,Pain at the medial aspect of the knee,HPO,phenotype,PHENOTYPE_12300
12301,12301,12301,12301,12301,12301,12301,12301,5442,Widely patent coronal suture,HPO,phenotype,PHENOTYPE_12301
12302,12302,12302,12302,12302,12302,12302,12302,6000973,Elevated circulating trihydroxycholestanoic acid concentration,HPO,phenotype,PHENOTYPE_12302
12303,12303,12303,12303,12303,12303,12303,12303,1708,Right ventricular failure,HPO,phenotype,PHENOTYPE_12303
12304,12304,12304,12304,12304,12304,12304,12304,171,Microglossia,HPO,phenotype,PHENOTYPE_12304
12305,12305,12305,12305,12305,12305,12305,12305,34537,Ameliorated by vitamin B12,HPO,phenotype,PHENOTYPE_12305
12306,12306,12306,12306,12306,12306,12306,12306,410385,"Decreased proportion of CD8-positive, alpha-beta memory T cells",HPO,phenotype,PHENOTYPE_12306
12307,12307,12307,12307,12307,12307,12307,12307,2491,Spasticity of facial muscles,HPO,phenotype,PHENOTYPE_12307
12308,12308,12308,12308,12308,12308,12308,12308,7313,Cerebral degeneration,HPO,phenotype,PHENOTYPE_12308
12309,12309,12309,12309,12309,12309,12309,12309,32999,Increased fecal porphyrin,HPO,phenotype,PHENOTYPE_12309
12310,12310,12310,12310,12310,12310,12310,12310,6000202,Cerebrospinal fluid erythrocytes,HPO,phenotype,PHENOTYPE_12310
12311,12311,12311,12311,12311,12311,12311,12311,6000580,Positive oropharynx poliovirus nucleic acid test,HPO,phenotype,PHENOTYPE_12311
12312,12312,12312,12312,12312,12312,12312,12312,31850,Abnormal hematocrit,HPO,phenotype,PHENOTYPE_12312
12313,12313,12313,12313,12313,12313,12313,12313,34948,Uterine myxoma,HPO,phenotype,PHENOTYPE_12313
12314,12314,12314,12314,12314,12314,12314,12314,1492,Axenfeld anomaly,HPO,phenotype,PHENOTYPE_12314
12315,12315,12315,12315,12315,12315,12315,12315,34138,Anti-contactin-associated protein 1 antibody positivity,HPO,phenotype,PHENOTYPE_12315
12316,12316,12316,12316,12316,12316,12316,12316,500089,Optic nerve sheath meningioma,HPO,phenotype,PHENOTYPE_12316
12317,12317,12317,12317,12317,12317,12317,12317,10578,Bracket epiphyses,HPO,phenotype,PHENOTYPE_12317
12318,12318,12318,12318,12318,12318,12318,12318,7083,Hyperactive patellar reflex,HPO,phenotype,PHENOTYPE_12318
12319,12319,12319,12319,12319,12319,12319,12319,33315,Visceral epithelial hyaline droplets,HPO,phenotype,PHENOTYPE_12319
12320,12320,12320,12320,12320,12320,12320,12320,6001038,Intestinal worm,HPO,phenotype,PHENOTYPE_12320
12321,12321,12321,12321,12321,12321,12321,12321,11646,Juxtaductal coarctation of the aorta,HPO,phenotype,PHENOTYPE_12321
12322,12322,12322,12322,12322,12322,12322,12322,40114,Absence of the reflex of the tensor tympani muscle,HPO,phenotype,PHENOTYPE_12322
12323,12323,12323,12323,12323,12323,12323,12323,100375,Aplasia/hypoplasia of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_12323
12324,12324,12324,12324,12324,12324,12324,12324,31793,Increased serum leptin,HPO,phenotype,PHENOTYPE_12324
12325,12325,12325,12325,12325,12325,12325,12325,610,Abnormal choroid morphology,HPO,phenotype,PHENOTYPE_12325
12326,12326,12326,12326,12326,12326,12326,12326,34797,Hepatic hemophagocytosis,HPO,phenotype,PHENOTYPE_12326
12327,12327,12327,12327,12327,12327,12327,12327,31324,Myocardial multinucleated giant cells,HPO,phenotype,PHENOTYPE_12327
12328,12328,12328,12328,12328,12328,12328,12328,33447,Elevated circulating isovalerylcarnitine concentration,HPO,phenotype,PHENOTYPE_12328
12329,12329,12329,12329,12329,12329,12329,12329,3238,Hyperpepsinogenemia I,HPO,phenotype,PHENOTYPE_12329
12330,12330,12330,12330,12330,12330,12330,12330,1963,Abnormal speech discrimination,HPO,phenotype,PHENOTYPE_12330
12331,12331,12331,12331,12331,12331,12331,12331,3652,Recurrent myoglobinuria,HPO,phenotype,PHENOTYPE_12331
12332,12332,12332,12332,12332,12332,12332,12332,5235,Jejunal atresia,HPO,phenotype,PHENOTYPE_12332
12333,12333,12333,12333,12333,12333,12333,12333,200122,Atypical or prolonged hepatitis,HPO,phenotype,PHENOTYPE_12333
12334,12334,12334,12334,12334,12334,12334,12334,34347,Greater auricular nerve thickening,HPO,phenotype,PHENOTYPE_12334
12335,12335,12335,12335,12335,12335,12335,12335,34554,Paucity of peroxisomes,HPO,phenotype,PHENOTYPE_12335
12336,12336,12336,12336,12336,12336,12336,12336,30786,Photopsia,HPO,phenotype,PHENOTYPE_12336
12337,12337,12337,12337,12337,12337,12337,12337,6000285,Retroperitoneal mass,HPO,phenotype,PHENOTYPE_12337
12338,12338,12338,12338,12338,12338,12338,12338,200046,Cat cry,HPO,phenotype,PHENOTYPE_12338
12339,12339,12339,12339,12339,12339,12339,12339,1134,Anterior polar cataract,HPO,phenotype,PHENOTYPE_12339
12340,12340,12340,12340,12340,12340,12340,12340,32351,Phenylalaninuria,HPO,phenotype,PHENOTYPE_12340
12341,12341,12341,12341,12341,12341,12341,12341,2790,Neonatal breathing dysregulation,HPO,phenotype,PHENOTYPE_12341
12342,12342,12342,12342,12342,12342,12342,12342,200098,Absent skin pigmentation,HPO,phenotype,PHENOTYPE_12342
12343,12343,12343,12343,12343,12343,12343,12343,100770,Hyperperistalsis,HPO,phenotype,PHENOTYPE_12343
12344,12344,12344,12344,12344,12344,12344,12344,34602,Decreased circulating apolipoprotein A-II concentration,HPO,phenotype,PHENOTYPE_12344
12345,12345,12345,12345,12345,12345,12345,12345,20127,Periarticular soft-tissue mass,HPO,phenotype,PHENOTYPE_12345
12346,12346,12346,12346,12346,12346,12346,12346,410372,Increased Tn-antigen level,HPO,phenotype,PHENOTYPE_12346
12347,12347,12347,12347,12347,12347,12347,12347,11807,Type 1 muscle fiber atrophy,HPO,phenotype,PHENOTYPE_12347
12348,12348,12348,12348,12348,12348,12348,12348,31491,Continuous spike and waves during slow sleep,HPO,phenotype,PHENOTYPE_12348
12349,12349,12349,12349,12349,12349,12349,12349,20231,Abnormal lymph-node cellular finding,HPO,phenotype,PHENOTYPE_12349
12350,12350,12350,12350,12350,12350,12350,12350,4180,Short distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_12350
12351,12351,12351,12351,12351,12351,12351,12351,100929,Sclerosis of 5th toe phalanx,HPO,phenotype,PHENOTYPE_12351
12352,12352,12352,12352,12352,12352,12352,12352,12808,Abnormal nasal base norphology,HPO,phenotype,PHENOTYPE_12352
12353,12353,12353,12353,12353,12353,12353,12353,41226,Fractured distal tarsal bone,HPO,phenotype,PHENOTYPE_12353
12354,12354,12354,12354,12354,12354,12354,12354,34921,Pituitary blastoma,HPO,phenotype,PHENOTYPE_12354
12355,12355,12355,12355,12355,12355,12355,12355,9212,Stippling of the epiphysis of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_12355
12356,12356,12356,12356,12356,12356,12356,12356,11601,Rightward direction of ventricular apex,HPO,phenotype,PHENOTYPE_12356
12357,12357,12357,12357,12357,12357,12357,12357,2699,Abnormal foramen magnum morphology,HPO,phenotype,PHENOTYPE_12357
12358,12358,12358,12358,12358,12358,12358,12358,11930,Hyperextensible skin of chest,HPO,phenotype,PHENOTYPE_12358
12359,12359,12359,12359,12359,12359,12359,12359,500072,Absolute eccentric fixation,HPO,phenotype,PHENOTYPE_12359
12360,12360,12360,12360,12360,12360,12360,12360,7989,Intraretinal exudate,HPO,phenotype,PHENOTYPE_12360
12361,12361,12361,12361,12361,12361,12361,12361,4028,Spurs of radial diaphysis,HPO,phenotype,PHENOTYPE_12361
12362,12362,12362,12362,12362,12362,12362,12362,25273,Achilles tendonitis,HPO,phenotype,PHENOTYPE_12362
12363,12363,12363,12363,12363,12363,12363,12363,3851,Lytic defects in metaphyses of the upper limbs,HPO,phenotype,PHENOTYPE_12363
12364,12364,12364,12364,12364,12364,12364,12364,500062,Retinopathy of prematurity plus,HPO,phenotype,PHENOTYPE_12364
12365,12365,12365,12365,12365,12365,12365,12365,34205,Iniencephaly,HPO,phenotype,PHENOTYPE_12365
12366,12366,12366,12366,12366,12366,12366,12366,8179,Decreased Arden ratio of electrooculogram,HPO,phenotype,PHENOTYPE_12366
12367,12367,12367,12367,12367,12367,12367,12367,32192,Hydatidiform mole,HPO,phenotype,PHENOTYPE_12367
12368,12368,12368,12368,12368,12368,12368,12368,292,Loss of facial adipose tissue,HPO,phenotype,PHENOTYPE_12368
12369,12369,12369,12369,12369,12369,12369,12369,2751,Kyphoscoliosis,HPO,phenotype,PHENOTYPE_12369
12370,12370,12370,12370,12370,12370,12370,12370,100960,Lateral ventricular asymmetry,HPO,phenotype,PHENOTYPE_12370
12371,12371,12371,12371,12371,12371,12371,12371,11516,Achromatopsia,HPO,phenotype,PHENOTYPE_12371
12372,12372,12372,12372,12372,12372,12372,12372,34107,Anti-p53 antibody positivity,HPO,phenotype,PHENOTYPE_12372
12373,12373,12373,12373,12373,12373,12373,12373,6000040,Neuropathic pain,HPO,phenotype,PHENOTYPE_12373
12374,12374,12374,12374,12374,12374,12374,12374,34111,Anti-MIT3 antibody positivity,HPO,phenotype,PHENOTYPE_12374
12375,12375,12375,12375,12375,12375,12375,12375,11484,Posterior synechiae of the anterior chamber,HPO,phenotype,PHENOTYPE_12375
12376,12376,12376,12376,12376,12376,12376,12376,11318,Bicoronal synostosis,HPO,phenotype,PHENOTYPE_12376
12377,12377,12377,12377,12377,12377,12377,12377,33624,History of congenital CMV infection,HPO,phenotype,PHENOTYPE_12377
12378,12378,12378,12378,12378,12378,12378,12378,34329,Dysplastic megalencephaly,HPO,phenotype,PHENOTYPE_12378
12379,12379,12379,12379,12379,12379,12379,12379,31199,Acellular urinary casts,HPO,phenotype,PHENOTYPE_12379
12380,12380,12380,12380,12380,12380,12380,12380,500233,Increased CSF alanine concentration,HPO,phenotype,PHENOTYPE_12380
12381,12381,12381,12381,12381,12381,12381,12381,31056,Fusiform cerebral aneurysm,HPO,phenotype,PHENOTYPE_12381
12382,12382,12382,12382,12382,12382,12382,12382,11761,Pituitary null cell adenoma,HPO,phenotype,PHENOTYPE_12382
12383,12383,12383,12383,12383,12383,12383,12383,11838,Sclerodactyly,HPO,phenotype,PHENOTYPE_12383
12384,12384,12384,12384,12384,12384,12384,12384,586,Shallow orbits,HPO,phenotype,PHENOTYPE_12384
12385,12385,12385,12385,12385,12385,12385,12385,25088,Onychomadesis,HPO,phenotype,PHENOTYPE_12385
12386,12386,12386,12386,12386,12386,12386,12386,1844,Abnormal hallux morphology,HPO,phenotype,PHENOTYPE_12386
12387,12387,12387,12387,12387,12387,12387,12387,32233,Increased circulating creatine kinase BB isoform,HPO,phenotype,PHENOTYPE_12387
12388,12388,12388,12388,12388,12388,12388,12388,30831,Rhonchi,HPO,phenotype,PHENOTYPE_12388
12389,12389,12389,12389,12389,12389,12389,12389,200102,Sparse or absent eyelashes,HPO,phenotype,PHENOTYPE_12389
12390,12390,12390,12390,12390,12390,12390,12390,311,Round face,HPO,phenotype,PHENOTYPE_12390
12391,12391,12391,12391,12391,12391,12391,12391,2283,Global brain atrophy,HPO,phenotype,PHENOTYPE_12391
12392,12392,12392,12392,12392,12392,12392,12392,3868,Humeral cortical thickening,HPO,phenotype,PHENOTYPE_12392
12393,12393,12393,12393,12393,12393,12393,12393,6000473,Decreased FOXP3-expressing T cell count,HPO,phenotype,PHENOTYPE_12393
12394,12394,12394,12394,12394,12394,12394,12394,32833,Neonatal epileptic spasm,HPO,phenotype,PHENOTYPE_12394
12395,12395,12395,12395,12395,12395,12395,12395,1178,Ulnar claw,HPO,phenotype,PHENOTYPE_12395
12396,12396,12396,12396,12396,12396,12396,12396,25490,Myocardial bridging,HPO,phenotype,PHENOTYPE_12396
12397,12397,12397,12397,12397,12397,12397,12397,12569,Delayed menarche,HPO,phenotype,PHENOTYPE_12397
12398,12398,12398,12398,12398,12398,12398,12398,8020,Cone dystrophy,HPO,phenotype,PHENOTYPE_12398
12399,12399,12399,12399,12399,12399,12399,12399,10171,Epiphyseal stippling of toe phalanges,HPO,phenotype,PHENOTYPE_12399
12400,12400,12400,12400,12400,12400,12400,12400,20209,Hot water-induced seizure,HPO,phenotype,PHENOTYPE_12400
12401,12401,12401,12401,12401,12401,12401,12401,6000610,Elevated erythrocyte galactose-1-phosphate concentration,HPO,phenotype,PHENOTYPE_12401
12402,12402,12402,12402,12402,12402,12402,12402,559,Corneal scarring,HPO,phenotype,PHENOTYPE_12402
12403,12403,12403,12403,12403,12403,12403,12403,30335,"Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count",HPO,phenotype,PHENOTYPE_12403
12404,12404,12404,12404,12404,12404,12404,12404,32168,Clostridium difficile colitis,HPO,phenotype,PHENOTYPE_12404
12405,12405,12405,12405,12405,12405,12405,12405,12091,Abnormality of pancreas physiology,HPO,phenotype,PHENOTYPE_12405
12406,12406,12406,12406,12406,12406,12406,12406,6000031,Phaeohyphomycosis,HPO,phenotype,PHENOTYPE_12406
12407,12407,12407,12407,12407,12407,12407,12407,6000869,Sclerotic ilium,HPO,phenotype,PHENOTYPE_12407
12408,12408,12408,12408,12408,12408,12408,12408,33648,Pulmonary pseudocavity,HPO,phenotype,PHENOTYPE_12408
12409,12409,12409,12409,12409,12409,12409,12409,410194,Increased circulating UDP glucose-4-epimerase concentration,HPO,phenotype,PHENOTYPE_12409
12410,12410,12410,12410,12410,12410,12410,12410,200148,Abnormal liver function tests during pregnancy,HPO,phenotype,PHENOTYPE_12410
12411,12411,12411,12411,12411,12411,12411,12411,7993,Malformed lacrimal duct,HPO,phenotype,PHENOTYPE_12411
12412,12412,12412,12412,12412,12412,12412,12412,12816,Right ventricular noncompaction cardiomyopathy,HPO,phenotype,PHENOTYPE_12412
12413,12413,12413,12413,12413,12413,12413,12413,12500,Verrucous papule,HPO,phenotype,PHENOTYPE_12413
12414,12414,12414,12414,12414,12414,12414,12414,4626,Lumbar scoliosis,HPO,phenotype,PHENOTYPE_12414
12415,12415,12415,12415,12415,12415,12415,12415,3321,Biconcave flattened vertebrae,HPO,phenotype,PHENOTYPE_12415
12416,12416,12416,12416,12416,12416,12416,12416,25415,Bulbar urethral stricture,HPO,phenotype,PHENOTYPE_12416
12417,12417,12417,12417,12417,12417,12417,12417,34922,Peripheral axon spheroid formation,HPO,phenotype,PHENOTYPE_12417
12418,12418,12418,12418,12418,12418,12418,12418,30631,Hyperautofluorescent macular lesion,HPO,phenotype,PHENOTYPE_12418
12419,12419,12419,12419,12419,12419,12419,12419,6000679,Abnormal serum osmolality,HPO,phenotype,PHENOTYPE_12419
12420,12420,12420,12420,12420,12420,12420,12420,6000477,"Elevated urine 2-trans,4-cis-decadienoylcarnitine level",HPO,phenotype,PHENOTYPE_12420
12421,12421,12421,12421,12421,12421,12421,12421,10242,Aplasia of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_12421
12422,12422,12422,12422,12422,12422,12422,12422,12116,Abnormal circulating albumin concentration,HPO,phenotype,PHENOTYPE_12422
12423,12423,12423,12423,12423,12423,12423,12423,4633,Lower thoracic kyphosis,HPO,phenotype,PHENOTYPE_12423
12424,12424,12424,12424,12424,12424,12424,12424,7327,Mixed demyelinating and axonal polyneuropathy,HPO,phenotype,PHENOTYPE_12424
12425,12425,12425,12425,12425,12425,12425,12425,6000505,3-5 finger cutaneous syndactyly,HPO,phenotype,PHENOTYPE_12425
12426,12426,12426,12426,12426,12426,12426,12426,34320,Muscle fiber intracytoplasmic reducing inclusion bodies,HPO,phenotype,PHENOTYPE_12426
12427,12427,12427,12427,12427,12427,12427,12427,31647,Saccular aortic arch aneurysm,HPO,phenotype,PHENOTYPE_12427
12428,12428,12428,12428,12428,12428,12428,12428,34177,Reduced circulating interleukin 17A concentration,HPO,phenotype,PHENOTYPE_12428
12429,12429,12429,12429,12429,12429,12429,12429,418,Narrow nasal ridge,HPO,phenotype,PHENOTYPE_12429
12430,12430,12430,12430,12430,12430,12430,12430,33537,Mosaic pulmonary attenuation pattern,HPO,phenotype,PHENOTYPE_12430
12431,12431,12431,12431,12431,12431,12431,12431,12472,Eclabion,HPO,phenotype,PHENOTYPE_12431
12432,12432,12432,12432,12432,12432,12432,12432,1609,Hoarse voice,HPO,phenotype,PHENOTYPE_12432
12433,12433,12433,12433,12433,12433,12433,12433,1138,Optic neuropathy,HPO,phenotype,PHENOTYPE_12433
12434,12434,12434,12434,12434,12434,12434,12434,100670,Coarse metaphyseal trabecularization,HPO,phenotype,PHENOTYPE_12434
12435,12435,12435,12435,12435,12435,12435,12435,10360,Broad phalanges of the 3rd toe,HPO,phenotype,PHENOTYPE_12435
12436,12436,12436,12436,12436,12436,12436,12436,913,Posterior rib fusion,HPO,phenotype,PHENOTYPE_12436
12437,12437,12437,12437,12437,12437,12437,12437,1647,Bicuspid aortic valve,HPO,phenotype,PHENOTYPE_12437
12438,12438,12438,12438,12438,12438,12438,12438,10039,Aplasia/Hypoplasia of the 3rd metacarpal,HPO,phenotype,PHENOTYPE_12438
12439,12439,12439,12439,12439,12439,12439,12439,10080,Osteolytic defects of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_12439
12440,12440,12440,12440,12440,12440,12440,12440,25172,Smooth septal thickening on pulmonary HRCT,HPO,phenotype,PHENOTYPE_12440
12441,12441,12441,12441,12441,12441,12441,12441,35023,Elevated circulating acetylcarnitine concentration,HPO,phenotype,PHENOTYPE_12441
12442,12442,12442,12442,12442,12442,12442,12442,7359,Focal-onset seizure,HPO,phenotype,PHENOTYPE_12442
12443,12443,12443,12443,12443,12443,12443,12443,6000583,Positive synovial fluid gram stain,HPO,phenotype,PHENOTYPE_12443
12444,12444,12444,12444,12444,12444,12444,12444,32598,Blebbing of apical cytoplasm of renal tubular epithelial cells,HPO,phenotype,PHENOTYPE_12444
12445,12445,12445,12445,12445,12445,12445,12445,34716,Reduced heme oxygenase activity,HPO,phenotype,PHENOTYPE_12445
12446,12446,12446,12446,12446,12446,12446,12446,25572,Punctal stenosis,HPO,phenotype,PHENOTYPE_12446
12447,12447,12447,12447,12447,12447,12447,12447,1102,Angioid streaks of the fundus,HPO,phenotype,PHENOTYPE_12447
12448,12448,12448,12448,12448,12448,12448,12448,9963,Duplication of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_12448
12449,12449,12449,12449,12449,12449,12449,12449,100555,Asymmetric growth,HPO,phenotype,PHENOTYPE_12449
12450,12450,12450,12450,12450,12450,12450,12450,31825,Freezing of gait,HPO,phenotype,PHENOTYPE_12450
12451,12451,12451,12451,12451,12451,12451,12451,6415,Cortically dense long tubular bones,HPO,phenotype,PHENOTYPE_12451
12452,12452,12452,12452,12452,12452,12452,12452,100134,Abnormality of the axillary hair,HPO,phenotype,PHENOTYPE_12452
12453,12453,12453,12453,12453,12453,12453,12453,2932,Aldehyde oxidase deficiency,HPO,phenotype,PHENOTYPE_12453
12454,12454,12454,12454,12454,12454,12454,12454,25430,High-pitched cry,HPO,phenotype,PHENOTYPE_12454
12455,12455,12455,12455,12455,12455,12455,12455,41065,Chronic (near) absent circulating IgG2,HPO,phenotype,PHENOTYPE_12455
12456,12456,12456,12456,12456,12456,12456,12456,33890,Abnormal renal arteriole lumen morphology,HPO,phenotype,PHENOTYPE_12456
12457,12457,12457,12457,12457,12457,12457,12457,10896,Hypersarcosinemia,HPO,phenotype,PHENOTYPE_12457
12458,12458,12458,12458,12458,12458,12458,12458,6000197,Reduced muscle phosphoglycerate mutase activity,HPO,phenotype,PHENOTYPE_12458
12459,12459,12459,12459,12459,12459,12459,12459,20253,Lymph node with expanded mantle zones,HPO,phenotype,PHENOTYPE_12459
12460,12460,12460,12460,12460,12460,12460,12460,2113,Pulmonary infiltrates,HPO,phenotype,PHENOTYPE_12460
12461,12461,12461,12461,12461,12461,12461,12461,54,Micropenis,HPO,phenotype,PHENOTYPE_12461
12462,12462,12462,12462,12462,12462,12462,12462,10621,Cutaneous syndactyly of toes,HPO,phenotype,PHENOTYPE_12462
12463,12463,12463,12463,12463,12463,12463,12463,4831,Recurrent thromboembolism,HPO,phenotype,PHENOTYPE_12463
12464,12464,12464,12464,12464,12464,12464,12464,100228,Fragmentation of the epiphysis of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_12464
12465,12465,12465,12465,12465,12465,12465,12465,33123,Elevated circulating osteopontin level,HPO,phenotype,PHENOTYPE_12465
12466,12466,12466,12466,12466,12466,12466,12466,32104,Saccadic oscillation,HPO,phenotype,PHENOTYPE_12466
12467,12467,12467,12467,12467,12467,12467,12467,430078,Anti-cryptococcal antibody positivity,HPO,phenotype,PHENOTYPE_12467
12468,12468,12468,12468,12468,12468,12468,12468,6000601,Elevated urinary 2-hydroxyisocaproic acid level,HPO,phenotype,PHENOTYPE_12468
12469,12469,12469,12469,12469,12469,12469,12469,4386,Gastrointestinal inflammation,HPO,phenotype,PHENOTYPE_12469
12470,12470,12470,12470,12470,12470,12470,12470,11596,Left aortic arch with right descending aorta and right ductus arteriosus,HPO,phenotype,PHENOTYPE_12470
12471,12471,12471,12471,12471,12471,12471,12471,30170,Cystic artery pseudoaneurysm,HPO,phenotype,PHENOTYPE_12471
12472,12472,12472,12472,12472,12472,12472,12472,12635,Iris hypoperfusion,HPO,phenotype,PHENOTYPE_12472
12473,12473,12473,12473,12473,12473,12473,12473,32026,Anetoderma,HPO,phenotype,PHENOTYPE_12473
12474,12474,12474,12474,12474,12474,12474,12474,6580,Portal fibrosis,HPO,phenotype,PHENOTYPE_12474
12475,12475,12475,12475,12475,12475,12475,12475,33017,Transient decreased circulating IgD,HPO,phenotype,PHENOTYPE_12475
12476,12476,12476,12476,12476,12476,12476,12476,430035,Tibiofibular interosseous membrane calcification,HPO,phenotype,PHENOTYPE_12476
12477,12477,12477,12477,12477,12477,12477,12477,7362,Aplasia/Hypoplasia of the brainstem,HPO,phenotype,PHENOTYPE_12477
12478,12478,12478,12478,12478,12478,12478,12478,7894,Hypopigmentation of the fundus,HPO,phenotype,PHENOTYPE_12478
12479,12479,12479,12479,12479,12479,12479,12479,12785,Flexion contracture of finger,HPO,phenotype,PHENOTYPE_12479
12480,12480,12480,12480,12480,12480,12480,12480,12000,EEG with generalized spikes,HPO,phenotype,PHENOTYPE_12480
12481,12481,12481,12481,12481,12481,12481,12481,34481,Atypical gestures,HPO,phenotype,PHENOTYPE_12481
12482,12482,12482,12482,12482,12482,12482,12482,1985,Hypoketotic hypoglycemia,HPO,phenotype,PHENOTYPE_12482
12483,12483,12483,12483,12483,12483,12483,12483,127,Renal salt wasting,HPO,phenotype,PHENOTYPE_12483
12484,12484,12484,12484,12484,12484,12484,12484,6904,Late-onset spinocerebellar degeneration,HPO,phenotype,PHENOTYPE_12484
12485,12485,12485,12485,12485,12485,12485,12485,31955,Antalgic gait,HPO,phenotype,PHENOTYPE_12485
12486,12486,12486,12486,12486,12486,12486,12486,20105,Severe toxoplasmosis,HPO,phenotype,PHENOTYPE_12486
12487,12487,12487,12487,12487,12487,12487,12487,7649,Congenital hypertrophy of retinal pigment epithelium,HPO,phenotype,PHENOTYPE_12487
12488,12488,12488,12488,12488,12488,12488,12488,34618,Abnormal circulating membrane cofactor protein concentration,HPO,phenotype,PHENOTYPE_12488
12489,12489,12489,12489,12489,12489,12489,12489,1643,Patent ductus arteriosus,HPO,phenotype,PHENOTYPE_12489
12490,12490,12490,12490,12490,12490,12490,12490,32720,Focal motor seizure with dysarthria/anarthria,HPO,phenotype,PHENOTYPE_12490
12491,12491,12491,12491,12491,12491,12491,12491,11600,Abnormal direction of ventricular apex,HPO,phenotype,PHENOTYPE_12491
12492,12492,12492,12492,12492,12492,12492,12492,25527,Serpiginous cutaneous lesion,HPO,phenotype,PHENOTYPE_12492
12493,12493,12493,12493,12493,12493,12493,12493,31763,Cyclic esotropia,HPO,phenotype,PHENOTYPE_12493
12494,12494,12494,12494,12494,12494,12494,12494,2193,Pseudobulbar affect,HPO,phenotype,PHENOTYPE_12494
12495,12495,12495,12495,12495,12495,12495,12495,34991,Shoulder external rotation contracture,HPO,phenotype,PHENOTYPE_12495
12496,12496,12496,12496,12496,12496,12496,12496,10735,Polyostotic fibrous dysplasia,HPO,phenotype,PHENOTYPE_12496
12497,12497,12497,12497,12497,12497,12497,12497,10969,Abnormality of glycolipid metabolism,HPO,phenotype,PHENOTYPE_12497
12498,12498,12498,12498,12498,12498,12498,12498,2607,Bowel incontinence,HPO,phenotype,PHENOTYPE_12498
12499,12499,12499,12499,12499,12499,12499,12499,25217,Triggered by high-fat diet,HPO,phenotype,PHENOTYPE_12499
12500,12500,12500,12500,12500,12500,12500,12500,6000077,Pancreatic islet beta cell iron deposition,HPO,phenotype,PHENOTYPE_12500
12501,12501,12501,12501,12501,12501,12501,12501,6000261,Absent circulating immunoglobulin kappa chain,HPO,phenotype,PHENOTYPE_12501
12502,12502,12502,12502,12502,12502,12502,12502,6001083,Cerebral hemisphere mass lesion,HPO,phenotype,PHENOTYPE_12502
12503,12503,12503,12503,12503,12503,12503,12503,11571,Parachute mitral valve,HPO,phenotype,PHENOTYPE_12503
12504,12504,12504,12504,12504,12504,12504,12504,1693,Cardiac shunt,HPO,phenotype,PHENOTYPE_12504
12505,12505,12505,12505,12505,12505,12505,12505,46,Small scrotum,HPO,phenotype,PHENOTYPE_12505
12506,12506,12506,12506,12506,12506,12506,12506,6881,Diffuse peripheral demyelination,HPO,phenotype,PHENOTYPE_12506
12507,12507,12507,12507,12507,12507,12507,12507,31585,Tessier number 13 facial cleft,HPO,phenotype,PHENOTYPE_12507
12508,12508,12508,12508,12508,12508,12508,12508,100543,Cognitive impairment,HPO,phenotype,PHENOTYPE_12508
12509,12509,12509,12509,12509,12509,12509,12509,6000089,Brown tumor,HPO,phenotype,PHENOTYPE_12509
12510,12510,12510,12510,12510,12510,12510,12510,264,Abnormal mastoid morphology,HPO,phenotype,PHENOTYPE_12510
12511,12511,12511,12511,12511,12511,12511,12511,25590,Abnormal extraocular muscle physiology,HPO,phenotype,PHENOTYPE_12511
12512,12512,12512,12512,12512,12512,12512,12512,34653,Monocarboxylic aciduria,HPO,phenotype,PHENOTYPE_12512
12513,12513,12513,12513,12513,12513,12513,12513,6110,Shortening of all middle phalanges of the fingers,HPO,phenotype,PHENOTYPE_12513
12514,12514,12514,12514,12514,12514,12514,12514,10626,Anterior pituitary agenesis,HPO,phenotype,PHENOTYPE_12514
12515,12515,12515,12515,12515,12515,12515,12515,33782,Semilunar tooth,HPO,phenotype,PHENOTYPE_12515
12516,12516,12516,12516,12516,12516,12516,12516,30494,Macular microaneurysm/hemorrhage,HPO,phenotype,PHENOTYPE_12516
12517,12517,12517,12517,12517,12517,12517,12517,2977,Aplasia/Hypoplasia involving the central nervous system,HPO,phenotype,PHENOTYPE_12517
12518,12518,12518,12518,12518,12518,12518,12518,30651,Multifocal,HPO,phenotype,PHENOTYPE_12518
12519,12519,12519,12519,12519,12519,12519,12519,11385,Absent internal auditory canal,HPO,phenotype,PHENOTYPE_12519
12520,12520,12520,12520,12520,12520,12520,12520,100856,Poorly ossified vertebrae,HPO,phenotype,PHENOTYPE_12520
12521,12521,12521,12521,12521,12521,12521,12521,34213,Fetal posterior fossa hemorrhage,HPO,phenotype,PHENOTYPE_12521
12522,12522,12522,12522,12522,12522,12522,12522,32732,Focal aware motor seizure with paresis/paralysis,HPO,phenotype,PHENOTYPE_12522
12523,12523,12523,12523,12523,12523,12523,12523,100556,Hemiatrophy,HPO,phenotype,PHENOTYPE_12523
12524,12524,12524,12524,12524,12524,12524,12524,31409,Abnormal lymphocyte physiology,HPO,phenotype,PHENOTYPE_12524
12525,12525,12525,12525,12525,12525,12525,12525,30087,Abnormal circulating testosterone concentration,HPO,phenotype,PHENOTYPE_12525
12526,12526,12526,12526,12526,12526,12526,12526,33407,Elevated urine acetoacetic acid level,HPO,phenotype,PHENOTYPE_12526
12527,12527,12527,12527,12527,12527,12527,12527,41045,Increased neutrophil mitochondria,HPO,phenotype,PHENOTYPE_12527
12528,12528,12528,12528,12528,12528,12528,12528,100062,Pseudoepiphyses of the 3rd toe,HPO,phenotype,PHENOTYPE_12528
12529,12529,12529,12529,12529,12529,12529,12529,4565,Severe platyspondyly,HPO,phenotype,PHENOTYPE_12529
12530,12530,12530,12530,12530,12530,12530,12530,33281,Circulating nucleated red blood cells,HPO,phenotype,PHENOTYPE_12530
12531,12531,12531,12531,12531,12531,12531,12531,10682,Elevated placental alkaline phosphatase,HPO,phenotype,PHENOTYPE_12531
12532,12532,12532,12532,12532,12532,12532,12532,9279,Radial deviation of the 4th finger,HPO,phenotype,PHENOTYPE_12532
12533,12533,12533,12533,12533,12533,12533,12533,9606,Complete duplication of distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_12533
12534,12534,12534,12534,12534,12534,12534,12534,809,Urinary tract atresia,HPO,phenotype,PHENOTYPE_12534
12535,12535,12535,12535,12535,12535,12535,12535,5133,Right ventricular dilatation,HPO,phenotype,PHENOTYPE_12535
12536,12536,12536,12536,12536,12536,12536,12536,6000867,Delayed tibial epiphyseal ossification,HPO,phenotype,PHENOTYPE_12536
12537,12537,12537,12537,12537,12537,12537,12537,5253,Increased anterioposterior diameter of thorax,HPO,phenotype,PHENOTYPE_12537
12538,12538,12538,12538,12538,12538,12538,12538,33928,Arcuate artery endoarterial foam cell hypercellularity,HPO,phenotype,PHENOTYPE_12538
12539,12539,12539,12539,12539,12539,12539,12539,30208,Anti-neuromuscular Junction acetylcholine receptor antibody positivity,HPO,phenotype,PHENOTYPE_12539
12540,12540,12540,12540,12540,12540,12540,12540,11637,Anomalous origin of coronary artery from the pulmonary artery,HPO,phenotype,PHENOTYPE_12540
12541,12541,12541,12541,12541,12541,12541,12541,11870,Impaired arachidonic acid-induced platelet aggregation,HPO,phenotype,PHENOTYPE_12541
12542,12542,12542,12542,12542,12542,12542,12542,9239,Aplasia/Hypoplasia of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_12542
12543,12543,12543,12543,12543,12543,12543,12543,32907,Focal undressing automatism seizure,HPO,phenotype,PHENOTYPE_12543
12544,12544,12544,12544,12544,12544,12544,12544,25591,Abnormal superior oblique muscle physiology,HPO,phenotype,PHENOTYPE_12544
12545,12545,12545,12545,12545,12545,12545,12545,712,Emotional lability,HPO,phenotype,PHENOTYPE_12545
12546,12546,12546,12546,12546,12546,12546,12546,30469,Abnormal dark-adapted electroretinogram,HPO,phenotype,PHENOTYPE_12546
12547,12547,12547,12547,12547,12547,12547,12547,10461,Abnormality of the male genitalia,HPO,phenotype,PHENOTYPE_12547
12548,12548,12548,12548,12548,12548,12548,12548,2359,Frequent falls,HPO,phenotype,PHENOTYPE_12548
12549,12549,12549,12549,12549,12549,12549,12549,10549,Weakness due to upper motor neuron dysfunction,HPO,phenotype,PHENOTYPE_12549
12550,12550,12550,12550,12550,12550,12550,12550,2804,Arthrogryposis multiplex congenita,HPO,phenotype,PHENOTYPE_12550
12551,12551,12551,12551,12551,12551,12551,12551,9973,Complete duplication of the phalanges of the 4th finger,HPO,phenotype,PHENOTYPE_12551
12552,12552,12552,12552,12552,12552,12552,12552,30091,Absent muscle fiber merosin,HPO,phenotype,PHENOTYPE_12552
12553,12553,12553,12553,12553,12553,12553,12553,31931,Ocular flutter,HPO,phenotype,PHENOTYPE_12553
12554,12554,12554,12554,12554,12554,12554,12554,30427,Ossifying fibroma of the jaw,HPO,phenotype,PHENOTYPE_12554
12555,12555,12555,12555,12555,12555,12555,12555,11274,Recurrent mycobacterial infections,HPO,phenotype,PHENOTYPE_12555
12556,12556,12556,12556,12556,12556,12556,12556,5437,Recurrent infections in infancy and early childhood,HPO,phenotype,PHENOTYPE_12556
12557,12557,12557,12557,12557,12557,12557,12557,9600,Thumb contracture,HPO,phenotype,PHENOTYPE_12557
12558,12558,12558,12558,12558,12558,12558,12558,34636,Bone marrow myeloid vacuolization,HPO,phenotype,PHENOTYPE_12558
12559,12559,12559,12559,12559,12559,12559,12559,6000161,Reduced hepatic N-acetylglutamate synthase activity,HPO,phenotype,PHENOTYPE_12559
12560,12560,12560,12560,12560,12560,12560,12560,34271,Copper beaten skull,HPO,phenotype,PHENOTYPE_12560
12561,12561,12561,12561,12561,12561,12561,12561,34150,Anti-tyrosyl-tRNA synthetase antibody positivity,HPO,phenotype,PHENOTYPE_12561
12562,12562,12562,12562,12562,12562,12562,12562,33966,Interlobular vein intima/media amyloidosis,HPO,phenotype,PHENOTYPE_12562
12563,12563,12563,12563,12563,12563,12563,12563,5200330,Suicide behaviors,HPO,phenotype,PHENOTYPE_12563
12564,12564,12564,12564,12564,12564,12564,12564,6000993,Pupillary hypersensitivity to parasympathomimetic agents,HPO,phenotype,PHENOTYPE_12564
12565,12565,12565,12565,12565,12565,12565,12565,6000300,Rotational fracture,HPO,phenotype,PHENOTYPE_12565
12566,12566,12566,12566,12566,12566,12566,12566,2244,Abnormal small intestine morphology,HPO,phenotype,PHENOTYPE_12566
12567,12567,12567,12567,12567,12567,12567,12567,500078,Alternating hypotropia,HPO,phenotype,PHENOTYPE_12567
12568,12568,12568,12568,12568,12568,12568,12568,2476,Primitive reflex,HPO,phenotype,PHENOTYPE_12568
12569,12569,12569,12569,12569,12569,12569,12569,33604,Glomerular capillary wire loop deposits,HPO,phenotype,PHENOTYPE_12569
12570,12570,12570,12570,12570,12570,12570,12570,6000412,Pulmonary perfusion defect,HPO,phenotype,PHENOTYPE_12570
12571,12571,12571,12571,12571,12571,12571,12571,10117,Fragmentation of the epiphyses of the hallux,HPO,phenotype,PHENOTYPE_12571
12572,12572,12572,12572,12572,12572,12572,12572,4786,Jejunal diverticula,HPO,phenotype,PHENOTYPE_12572
12573,12573,12573,12573,12573,12573,12573,12573,4880,Respiratory infections in early life,HPO,phenotype,PHENOTYPE_12573
12574,12574,12574,12574,12574,12574,12574,12574,5686,Patchy osteosclerosis,HPO,phenotype,PHENOTYPE_12574
12575,12575,12575,12575,12575,12575,12575,12575,10902,Abnormal circulating glutamine family amino acid concentration,HPO,phenotype,PHENOTYPE_12575
12576,12576,12576,12576,12576,12576,12576,12576,3000008,Abnormality of mylohyoid muscle,HPO,phenotype,PHENOTYPE_12576
12577,12577,12577,12577,12577,12577,12577,12577,4100,Abnormal 2nd finger morphology,HPO,phenotype,PHENOTYPE_12577
12578,12578,12578,12578,12578,12578,12578,12578,6704,Abnormal coronary artery morphology,HPO,phenotype,PHENOTYPE_12578
12579,12579,12579,12579,12579,12579,12579,12579,63,Fused labia minora,HPO,phenotype,PHENOTYPE_12579
12580,12580,12580,12580,12580,12580,12580,12580,100354,Contracture of the distal interphalangeal joint of the 4th toe,HPO,phenotype,PHENOTYPE_12580
12581,12581,12581,12581,12581,12581,12581,12581,32003,Green urine,HPO,phenotype,PHENOTYPE_12581
12582,12582,12582,12582,12582,12582,12582,12582,10053,Abnormality of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_12582
12583,12583,12583,12583,12583,12583,12583,12583,6000457,Mallory bodies,HPO,phenotype,PHENOTYPE_12583
12584,12584,12584,12584,12584,12584,12584,12584,11803,Bifid nose,HPO,phenotype,PHENOTYPE_12584
12585,12585,12585,12585,12585,12585,12585,12585,11099,Spastic hemiparesis,HPO,phenotype,PHENOTYPE_12585
12586,12586,12586,12586,12586,12586,12586,12586,2396,Cogwheel rigidity,HPO,phenotype,PHENOTYPE_12586
12587,12587,12587,12587,12587,12587,12587,12587,32924,Focal impaired awareness verbal automatism seizure,HPO,phenotype,PHENOTYPE_12587
12588,12588,12588,12588,12588,12588,12588,12588,31230,Decreased incisura length,HPO,phenotype,PHENOTYPE_12588
12589,12589,12589,12589,12589,12589,12589,12589,3117,Abnormal circulating hormone concentration,HPO,phenotype,PHENOTYPE_12589
12590,12590,12590,12590,12590,12590,12590,12590,150,Gonadoblastoma,HPO,phenotype,PHENOTYPE_12590
12591,12591,12591,12591,12591,12591,12591,12591,200025,Mandibular pain,HPO,phenotype,PHENOTYPE_12591
12592,12592,12592,12592,12592,12592,12592,12592,6000343,Antiparietal cell antibody positivity,HPO,phenotype,PHENOTYPE_12592
12593,12593,12593,12593,12593,12593,12593,12593,30306,11 thoracic vertebrae,HPO,phenotype,PHENOTYPE_12593
12594,12594,12594,12594,12594,12594,12594,12594,33012,Abnormal salivary metabolite concentration,HPO,phenotype,PHENOTYPE_12594
12595,12595,12595,12595,12595,12595,12595,12595,6001027,Diminished glomerular basement membrane collagen IV alpha 3 chain staining,HPO,phenotype,PHENOTYPE_12595
12596,12596,12596,12596,12596,12596,12596,12596,7503,Generalized ichthyosis,HPO,phenotype,PHENOTYPE_12596
12597,12597,12597,12597,12597,12597,12597,12597,7760,Crystalline corneal dystrophy,HPO,phenotype,PHENOTYPE_12597
12598,12598,12598,12598,12598,12598,12598,12598,30866,Large knee,HPO,phenotype,PHENOTYPE_12598
12599,12599,12599,12599,12599,12599,12599,12599,5200356,Sleep onset rapid eye movement period,HPO,phenotype,PHENOTYPE_12599
12600,12600,12600,12600,12600,12600,12600,12600,32431,Decreased HDL3b concentration,HPO,phenotype,PHENOTYPE_12600
12601,12601,12601,12601,12601,12601,12601,12601,6000196,Reduced muscle lactate dehydrogenase activity,HPO,phenotype,PHENOTYPE_12601
12602,12602,12602,12602,12602,12602,12602,12602,430019,Abnormality of muscle of facial expression,HPO,phenotype,PHENOTYPE_12602
12603,12603,12603,12603,12603,12603,12603,12603,10542,Vestibular nystagmus,HPO,phenotype,PHENOTYPE_12603
12604,12604,12604,12604,12604,12604,12604,12604,30749,Grade II preterm intraventricular hemorrhage,HPO,phenotype,PHENOTYPE_12604
12605,12605,12605,12605,12605,12605,12605,12605,32954,Renal tubular adenovirus inclusions,HPO,phenotype,PHENOTYPE_12605
12606,12606,12606,12606,12606,12606,12606,12606,500054,Retinopathy of prematurity stage 4a,HPO,phenotype,PHENOTYPE_12606
12607,12607,12607,12607,12607,12607,12607,12607,4000167,Recent steroid exposure,HPO,phenotype,PHENOTYPE_12607
12608,12608,12608,12608,12608,12608,12608,12608,3109,Hyperphosphaturia,HPO,phenotype,PHENOTYPE_12608
12609,12609,12609,12609,12609,12609,12609,12609,6870,Lobar holoprosencephaly,HPO,phenotype,PHENOTYPE_12609
12610,12610,12610,12610,12610,12610,12610,12610,32514,Supernumerary lacrimal punctum,HPO,phenotype,PHENOTYPE_12610
12611,12611,12611,12611,12611,12611,12611,12611,30359,Squamous cell lung carcinoma,HPO,phenotype,PHENOTYPE_12611
12612,12612,12612,12612,12612,12612,12612,12612,11871,Impaired ristocetin-induced platelet aggregation,HPO,phenotype,PHENOTYPE_12612
12613,12613,12613,12613,12613,12613,12613,12613,33980,Paroxysmal tonic upgaze,HPO,phenotype,PHENOTYPE_12613
12614,12614,12614,12614,12614,12614,12614,12614,3799,Marked delay in bone age,HPO,phenotype,PHENOTYPE_12614
12615,12615,12615,12615,12615,12615,12615,12615,100309,Subdural hemorrhage,HPO,phenotype,PHENOTYPE_12615
12616,12616,12616,12616,12616,12616,12616,12616,2829,Arthralgia,HPO,phenotype,PHENOTYPE_12616
12617,12617,12617,12617,12617,12617,12617,12617,11362,Abnormal hair quantity,HPO,phenotype,PHENOTYPE_12617
12618,12618,12618,12618,12618,12618,12618,12618,6555,Diffuse hepatic steatosis,HPO,phenotype,PHENOTYPE_12618
12619,12619,12619,12619,12619,12619,12619,12619,8354,Factor X activation deficiency,HPO,phenotype,PHENOTYPE_12619
12620,12620,12620,12620,12620,12620,12620,12620,31205,Reduced lysosomal acid lipase activity,HPO,phenotype,PHENOTYPE_12620
12621,12621,12621,12621,12621,12621,12621,12621,5223,Duplicated colon,HPO,phenotype,PHENOTYPE_12621
12622,12622,12622,12622,12622,12622,12622,12622,100340,Fibular deviation of the 4th toe,HPO,phenotype,PHENOTYPE_12622
12623,12623,12623,12623,12623,12623,12623,12623,20151,Anti-dsDNA antibody positivity,HPO,phenotype,PHENOTYPE_12623
12624,12624,12624,12624,12624,12624,12624,12624,5972,Respiratory acidosis,HPO,phenotype,PHENOTYPE_12624
12625,12625,12625,12625,12625,12625,12625,12625,8054,Abnormal morphology of the conjunctival vasculature,HPO,phenotype,PHENOTYPE_12625
12626,12626,12626,12626,12626,12626,12626,12626,100149,Enlarged epiphysis of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_12626
12627,12627,12627,12627,12627,12627,12627,12627,32825,Neonatal electro-clinical sequential seizure,HPO,phenotype,PHENOTYPE_12627
12628,12628,12628,12628,12628,12628,12628,12628,1360,Holoprosencephaly,HPO,phenotype,PHENOTYPE_12628
12629,12629,12629,12629,12629,12629,12629,12629,32055,Focal cortical dysplasia type IIIa,HPO,phenotype,PHENOTYPE_12629
12630,12630,12630,12630,12630,12630,12630,12630,5258,Pectoral muscle hypoplasia/aplasia,HPO,phenotype,PHENOTYPE_12630
12631,12631,12631,12631,12631,12631,12631,12631,3573,Increased total bilirubin,HPO,phenotype,PHENOTYPE_12631
12632,12632,12632,12632,12632,12632,12632,12632,6000295,Persistent falcine venous sinus,HPO,phenotype,PHENOTYPE_12632
12633,12633,12633,12633,12633,12633,12633,12633,3252,Anteriorly displaced genitalia,HPO,phenotype,PHENOTYPE_12633
12634,12634,12634,12634,12634,12634,12634,12634,30195,Fatigable weakness of swallowing muscles,HPO,phenotype,PHENOTYPE_12634
12635,12635,12635,12635,12635,12635,12635,12635,34145,Anti-alanyl-tRNA synthetase antibody positivity,HPO,phenotype,PHENOTYPE_12635
12636,12636,12636,12636,12636,12636,12636,12636,818,Abnormality of the endocrine system,HPO,phenotype,PHENOTYPE_12636
12637,12637,12637,12637,12637,12637,12637,12637,33248,Multiple pulmonary interstitial hyalinized nodules,HPO,phenotype,PHENOTYPE_12637
12638,12638,12638,12638,12638,12638,12638,12638,34738,Reduced erythrocyte glutathione concentration,HPO,phenotype,PHENOTYPE_12638
12639,12639,12639,12639,12639,12639,12639,12639,6001049,Spiculated,HPO,phenotype,PHENOTYPE_12639
12640,12640,12640,12640,12640,12640,12640,12640,3759,Hypoplasia of lymphatic vessels,HPO,phenotype,PHENOTYPE_12640
12641,12641,12641,12641,12641,12641,12641,12641,100938,Sclerosis of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_12641
12642,12642,12642,12642,12642,12642,12642,12642,34195,Triggered by muscle relaxant,HPO,phenotype,PHENOTYPE_12642
12643,12643,12643,12643,12643,12643,12643,12643,30872,Abnormal cardiac ventricular function,HPO,phenotype,PHENOTYPE_12643
12644,12644,12644,12644,12644,12644,12644,12644,100919,Sclerosis of 3rd finger phalanx,HPO,phenotype,PHENOTYPE_12644
12645,12645,12645,12645,12645,12645,12645,12645,30500,Yellow/white lesions of the macula,HPO,phenotype,PHENOTYPE_12645
12646,12646,12646,12646,12646,12646,12646,12646,4416,Precocious atherosclerosis,HPO,phenotype,PHENOTYPE_12646
12647,12647,12647,12647,12647,12647,12647,12647,2930,Impaired sensitivity to thyroid hormone,HPO,phenotype,PHENOTYPE_12647
12648,12648,12648,12648,12648,12648,12648,12648,5200339,Self-cutting,HPO,phenotype,PHENOTYPE_12648
12649,12649,12649,12649,12649,12649,12649,12649,31778,Incyclophoria,HPO,phenotype,PHENOTYPE_12649
12650,12650,12650,12650,12650,12650,12650,12650,31593,Abnormal PR interval,HPO,phenotype,PHENOTYPE_12650
12651,12651,12651,12651,12651,12651,12651,12651,34110,Anti-Gerbich phenotype 1 antibody positivity,HPO,phenotype,PHENOTYPE_12651
12652,12652,12652,12652,12652,12652,12652,12652,30237,Hand muscle weakness,HPO,phenotype,PHENOTYPE_12652
12653,12653,12653,12653,12653,12653,12653,12653,7779,Anterior segment of eye aplasia,HPO,phenotype,PHENOTYPE_12653
12654,12654,12654,12654,12654,12654,12654,12654,34244,Gastric pseudomass,HPO,phenotype,PHENOTYPE_12654
12655,12655,12655,12655,12655,12655,12655,12655,6001073,Left ventricular apical dyskinesis,HPO,phenotype,PHENOTYPE_12655
12656,12656,12656,12656,12656,12656,12656,12656,100717,Abnormal cementum morphology,HPO,phenotype,PHENOTYPE_12656
12657,12657,12657,12657,12657,12657,12657,12657,1700,Myocardial necrosis,HPO,phenotype,PHENOTYPE_12657
12658,12658,12658,12658,12658,12658,12658,12658,32254,Increased circulating copper concentration,HPO,phenotype,PHENOTYPE_12658
12659,12659,12659,12659,12659,12659,12659,12659,11023,Abnormal circulating prostaglandin circulation,HPO,phenotype,PHENOTYPE_12659
12660,12660,12660,12660,12660,12660,12660,12660,11192,Polymorphic focal epileptiform discharges,HPO,phenotype,PHENOTYPE_12660
12661,12661,12661,12661,12661,12661,12661,12661,4047,Wide ulnar metaphysis,HPO,phenotype,PHENOTYPE_12661
12662,12662,12662,12662,12662,12662,12662,12662,31163,Low femoral bone density,HPO,phenotype,PHENOTYPE_12662
12663,12663,12663,12663,12663,12663,12663,12663,30825,Absent foveal reflex,HPO,phenotype,PHENOTYPE_12663
12664,12664,12664,12664,12664,12664,12664,12664,33653,Bronchocele,HPO,phenotype,PHENOTYPE_12664
12665,12665,12665,12665,12665,12665,12665,12665,100142,Pseudoepiphysis of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_12665
12666,12666,12666,12666,12666,12666,12666,12666,40305,Increased male libido,HPO,phenotype,PHENOTYPE_12666
12667,12667,12667,12667,12667,12667,12667,12667,10580,Enlarged epiphyses,HPO,phenotype,PHENOTYPE_12667
12668,12668,12668,12668,12668,12668,12668,12668,41081,Fractured lower leg,HPO,phenotype,PHENOTYPE_12668
12669,12669,12669,12669,12669,12669,12669,12669,410338,Plant product allergy,HPO,phenotype,PHENOTYPE_12669
12670,12670,12670,12670,12670,12670,12670,12670,4532,Sacral hypertrichosis,HPO,phenotype,PHENOTYPE_12670
12671,12671,12671,12671,12671,12671,12671,12671,100400,Duplication of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_12671
12672,12672,12672,12672,12672,12672,12672,12672,10143,Irregular epiphysis of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_12672
12673,12673,12673,12673,12673,12673,12673,12673,30546,Unaided visual acuity 1.1 LogMAR,HPO,phenotype,PHENOTYPE_12673
12674,12674,12674,12674,12674,12674,12674,12674,32988,Persistent head lag,HPO,phenotype,PHENOTYPE_12674
12675,12675,12675,12675,12675,12675,12675,12675,11966,Elevated plasma citrulline,HPO,phenotype,PHENOTYPE_12675
12676,12676,12676,12676,12676,12676,12676,12676,10445,Primum atrial septal defect,HPO,phenotype,PHENOTYPE_12676
12677,12677,12677,12677,12677,12677,12677,12677,31435,Monotonic speech,HPO,phenotype,PHENOTYPE_12677
12678,12678,12678,12678,12678,12678,12678,12678,20062,Decreased hemoglobin concentration,HPO,phenotype,PHENOTYPE_12678
12679,12679,12679,12679,12679,12679,12679,12679,4000092,Poor conversational reciprocity,HPO,phenotype,PHENOTYPE_12679
12680,12680,12680,12680,12680,12680,12680,12680,1092,Absent lacrimal punctum,HPO,phenotype,PHENOTYPE_12680
12681,12681,12681,12681,12681,12681,12681,12681,32428,Increased HDL3a concentration,HPO,phenotype,PHENOTYPE_12681
12682,12682,12682,12682,12682,12682,12682,12682,20080,Erythrocyte inclusion bodies,HPO,phenotype,PHENOTYPE_12682
12683,12683,12683,12683,12683,12683,12683,12683,31015,Intrahepatic portal vein sclerosis,HPO,phenotype,PHENOTYPE_12683
12684,12684,12684,12684,12684,12684,12684,12684,4239,Proximally placed carpal bones,HPO,phenotype,PHENOTYPE_12684
12685,12685,12685,12685,12685,12685,12685,12685,2230,Generalized hirsutism,HPO,phenotype,PHENOTYPE_12685
12686,12686,12686,12686,12686,12686,12686,12686,3974,Absent radius,HPO,phenotype,PHENOTYPE_12686
12687,12687,12687,12687,12687,12687,12687,12687,2637,Cerebral ischemia,HPO,phenotype,PHENOTYPE_12687
12688,12688,12688,12688,12688,12688,12688,12688,8103,Delayed tarsal ossification,HPO,phenotype,PHENOTYPE_12688
12689,12689,12689,12689,12689,12689,12689,12689,11530,Retinal hole,HPO,phenotype,PHENOTYPE_12689
12690,12690,12690,12690,12690,12690,12690,12690,75,Renal duplication,HPO,phenotype,PHENOTYPE_12690
12691,12691,12691,12691,12691,12691,12691,12691,12696,Abnormal thalamic MRI signal intensity,HPO,phenotype,PHENOTYPE_12691
12692,12692,12692,12692,12692,12692,12692,12692,32161,Coccidioidal meningitis,HPO,phenotype,PHENOTYPE_12692
12693,12693,12693,12693,12693,12693,12693,12693,100703,Tongue thrusting,HPO,phenotype,PHENOTYPE_12693
12694,12694,12694,12694,12694,12694,12694,12694,34245,Fetal head anomaly,HPO,phenotype,PHENOTYPE_12694
12695,12695,12695,12695,12695,12695,12695,12695,11972,Hypoglycorrhachia,HPO,phenotype,PHENOTYPE_12695
12696,12696,12696,12696,12696,12696,12696,12696,484,Hyperopic astigmatism,HPO,phenotype,PHENOTYPE_12696
12697,12697,12697,12697,12697,12697,12697,12697,4000061,Pancreatic alpha-cell hyperplasia,HPO,phenotype,PHENOTYPE_12697
12698,12698,12698,12698,12698,12698,12698,12698,1640,Cardiomegaly,HPO,phenotype,PHENOTYPE_12698
12699,12699,12699,12699,12699,12699,12699,12699,31805,Intraretinal hemorrhage,HPO,phenotype,PHENOTYPE_12699
12700,12700,12700,12700,12700,12700,12700,12700,3656,Decreased beta-glucocerebrosidase level,HPO,phenotype,PHENOTYPE_12700
12701,12701,12701,12701,12701,12701,12701,12701,25643,Tarlov cyst,HPO,phenotype,PHENOTYPE_12701
12702,12702,12702,12702,12702,12702,12702,12702,10590,Abnormality of the distal femoral epiphysis,HPO,phenotype,PHENOTYPE_12702
12703,12703,12703,12703,12703,12703,12703,12703,6000714,Reduced epidermal kindlin-1 expression,HPO,phenotype,PHENOTYPE_12703
12704,12704,12704,12704,12704,12704,12704,12704,97,Focal segmental glomerulosclerosis,HPO,phenotype,PHENOTYPE_12704
12705,12705,12705,12705,12705,12705,12705,12705,11845,Short second metatarsal,HPO,phenotype,PHENOTYPE_12705
12706,12706,12706,12706,12706,12706,12706,12706,31459,Soft tissue neoplasm,HPO,phenotype,PHENOTYPE_12706
12707,12707,12707,12707,12707,12707,12707,12707,30574,Pinhole visual acuity 0.6 LogMAR,HPO,phenotype,PHENOTYPE_12707
12708,12708,12708,12708,12708,12708,12708,12708,410360,Increased core 1 O-glycan level,HPO,phenotype,PHENOTYPE_12708
12709,12709,12709,12709,12709,12709,12709,12709,10510,Hypermobility of toe joints,HPO,phenotype,PHENOTYPE_12709
12710,12710,12710,12710,12710,12710,12710,12710,3095,Septic arthritis,HPO,phenotype,PHENOTYPE_12710
12711,12711,12711,12711,12711,12711,12711,12711,33935,Cortical radial artery intima/media necrosis,HPO,phenotype,PHENOTYPE_12711
12712,12712,12712,12712,12712,12712,12712,12712,410066,Increased level of hippuric acid in urine,HPO,phenotype,PHENOTYPE_12712
12713,12713,12713,12713,12713,12713,12713,12713,20101,Invasive fungal infection,HPO,phenotype,PHENOTYPE_12713
12714,12714,12714,12714,12714,12714,12714,12714,5200002,Limited repertoire of facial expression,HPO,phenotype,PHENOTYPE_12714
12715,12715,12715,12715,12715,12715,12715,12715,2678,Skull asymmetry,HPO,phenotype,PHENOTYPE_12715
12716,12716,12716,12716,12716,12716,12716,12716,9106,Abnormal pelvis bone ossification,HPO,phenotype,PHENOTYPE_12716
12717,12717,12717,12717,12717,12717,12717,12717,6000400,Reduced CSF creatine concentration,HPO,phenotype,PHENOTYPE_12717
12718,12718,12718,12718,12718,12718,12718,12718,32905,Focal sexual automatism seizure,HPO,phenotype,PHENOTYPE_12718
12719,12719,12719,12719,12719,12719,12719,12719,437,Depressed nasal tip,HPO,phenotype,PHENOTYPE_12719
12720,12720,12720,12720,12720,12720,12720,12720,3411,Proximal femoral metaphyseal irregularity,HPO,phenotype,PHENOTYPE_12720
12721,12721,12721,12721,12721,12721,12721,12721,410281,Dyspepsia,HPO,phenotype,PHENOTYPE_12721
12722,12722,12722,12722,12722,12722,12722,12722,2197,Generalized-onset seizure,HPO,phenotype,PHENOTYPE_12722
12723,12723,12723,12723,12723,12723,12723,12723,5200422,Cotard delusion,HPO,phenotype,PHENOTYPE_12723
12724,12724,12724,12724,12724,12724,12724,12724,500001,Body odor,HPO,phenotype,PHENOTYPE_12724
12725,12725,12725,12725,12725,12725,12725,12725,32843,Focal-onset epileptic spasm,HPO,phenotype,PHENOTYPE_12725
12726,12726,12726,12726,12726,12726,12726,12726,410170,Hippocampal atrophy,HPO,phenotype,PHENOTYPE_12726
12727,12727,12727,12727,12727,12727,12727,12727,5135,Abnormal T-wave,HPO,phenotype,PHENOTYPE_12727
12728,12728,12728,12728,12728,12728,12728,12728,153,Abnormality of the mouth,HPO,phenotype,PHENOTYPE_12728
12729,12729,12729,12729,12729,12729,12729,12729,31590,Asthenopia,HPO,phenotype,PHENOTYPE_12729
12730,12730,12730,12730,12730,12730,12730,12730,5863,Type E brachydactyly,HPO,phenotype,PHENOTYPE_12730
12731,12731,12731,12731,12731,12731,12731,12731,40313,Oligoarthritis,HPO,phenotype,PHENOTYPE_12731
12732,12732,12732,12732,12732,12732,12732,12732,10915,Abnormal circulating pyruvate family amino acid concentration,HPO,phenotype,PHENOTYPE_12732
12733,12733,12733,12733,12733,12733,12733,12733,34340,Pseudoautosomal dominant inheritance,HPO,phenotype,PHENOTYPE_12733
12734,12734,12734,12734,12734,12734,12734,12734,100391,Short distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_12734
12735,12735,12735,12735,12735,12735,12735,12735,27,Azoospermia,HPO,phenotype,PHENOTYPE_12735
12736,12736,12736,12736,12736,12736,12736,12736,6135,Decreased finger mobility,HPO,phenotype,PHENOTYPE_12736
12737,12737,12737,12737,12737,12737,12737,12737,40011,Flat posterior fossa,HPO,phenotype,PHENOTYPE_12737
12738,12738,12738,12738,12738,12738,12738,12738,5422,Absence of CD8-positive T cells,HPO,phenotype,PHENOTYPE_12738
12739,12739,12739,12739,12739,12739,12739,12739,25193,Posterolateral diaphragmatic hernia,HPO,phenotype,PHENOTYPE_12739
12740,12740,12740,12740,12740,12740,12740,12740,10361,Bullet-shaped 3rd toe phalanx,HPO,phenotype,PHENOTYPE_12740
12741,12741,12741,12741,12741,12741,12741,12741,11158,Focal sensory seizure with auditory features,HPO,phenotype,PHENOTYPE_12741
12742,12742,12742,12742,12742,12742,12742,12742,4000067,Iliac artery aneurysm,HPO,phenotype,PHENOTYPE_12742
12743,12743,12743,12743,12743,12743,12743,12743,34651,Elevated urine phenylpropionylglycine level,HPO,phenotype,PHENOTYPE_12743
12744,12744,12744,12744,12744,12744,12744,12744,31616,Anterior chamber flare,HPO,phenotype,PHENOTYPE_12744
12745,12745,12745,12745,12745,12745,12745,12745,6000045,Ameliorated by nitroglycerin,HPO,phenotype,PHENOTYPE_12745
12746,12746,12746,12746,12746,12746,12746,12746,32124,Abnormal proportion of unswitched memory B cells,HPO,phenotype,PHENOTYPE_12746
12747,12747,12747,12747,12747,12747,12747,12747,4000018,Anti-desmoplakin II antibody positivity,HPO,phenotype,PHENOTYPE_12747
12748,12748,12748,12748,12748,12748,12748,12748,10382,Abnormal morphology of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_12748
12749,12749,12749,12749,12749,12749,12749,12749,5262,Abnormal synovial membrane morphology,HPO,phenotype,PHENOTYPE_12749
12750,12750,12750,12750,12750,12750,12750,12750,11258,Tragal bridge of crus of helix,HPO,phenotype,PHENOTYPE_12750
12751,12751,12751,12751,12751,12751,12751,12751,10964,Abnormal circulating long-chain fatty-acid concentration,HPO,phenotype,PHENOTYPE_12751
12752,12752,12752,12752,12752,12752,12752,12752,12299,Long distal phalanx of finger,HPO,phenotype,PHENOTYPE_12752
12753,12753,12753,12753,12753,12753,12753,12753,9986,Complete duplication of the phalanges of the 5th finger,HPO,phenotype,PHENOTYPE_12753
12754,12754,12754,12754,12754,12754,12754,12754,2595,Ileus,HPO,phenotype,PHENOTYPE_12754
12755,12755,12755,12755,12755,12755,12755,12755,496,Abnormality of eye movement,HPO,phenotype,PHENOTYPE_12755
12756,12756,12756,12756,12756,12756,12756,12756,3528,Elevated circulating calcitonin concentration,HPO,phenotype,PHENOTYPE_12756
12757,12757,12757,12757,12757,12757,12757,12757,34652,Elevated urine octenedioic acid level,HPO,phenotype,PHENOTYPE_12757
12758,12758,12758,12758,12758,12758,12758,12758,12403,Decreased urine alpha-ketoglutarate concentration,HPO,phenotype,PHENOTYPE_12758
12759,12759,12759,12759,12759,12759,12759,12759,31093,Abnormal breast morphology,HPO,phenotype,PHENOTYPE_12759
12760,12760,12760,12760,12760,12760,12760,12760,200047,Chondritis of pinna,HPO,phenotype,PHENOTYPE_12760
12761,12761,12761,12761,12761,12761,12761,12761,4937,Pulmonary artery aneurysm,HPO,phenotype,PHENOTYPE_12761
12762,12762,12762,12762,12762,12762,12762,12762,31661,Abnormal second heart sound,HPO,phenotype,PHENOTYPE_12762
12763,12763,12763,12763,12763,12763,12763,12763,4000,Cone-shaped distal radial epiphysis,HPO,phenotype,PHENOTYPE_12763
12764,12764,12764,12764,12764,12764,12764,12764,9516,Enlarged epiphysis of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_12764
12765,12765,12765,12765,12765,12765,12765,12765,10639,Elevated alkaline phosphatase of bone origin,HPO,phenotype,PHENOTYPE_12765
12766,12766,12766,12766,12766,12766,12766,12766,25307,Acute emergence over hours,HPO,phenotype,PHENOTYPE_12766
12767,12767,12767,12767,12767,12767,12767,12767,7946,Unilateral narrow palpebral fissure,HPO,phenotype,PHENOTYPE_12767
12768,12768,12768,12768,12768,12768,12768,12768,11630,Complete diaphragmatic absence of pericardium,HPO,phenotype,PHENOTYPE_12768
12769,12769,12769,12769,12769,12769,12769,12769,9278,Ulnar deviation of the 4th finger,HPO,phenotype,PHENOTYPE_12769
12770,12770,12770,12770,12770,12770,12770,12770,6000616,Reduced muscle glycogen debrancher enzyme activity,HPO,phenotype,PHENOTYPE_12770
12771,12771,12771,12771,12771,12771,12771,12771,2902,Hyponatremia,HPO,phenotype,PHENOTYPE_12771
12772,12772,12772,12772,12772,12772,12772,12772,33498,Segmental glomerulosclerosis away from the vascular and tubular poles,HPO,phenotype,PHENOTYPE_12772
12773,12773,12773,12773,12773,12773,12773,12773,100635,Carotid paraganglioma,HPO,phenotype,PHENOTYPE_12773
12774,12774,12774,12774,12774,12774,12774,12774,2194,Delayed gross motor development,HPO,phenotype,PHENOTYPE_12774
12775,12775,12775,12775,12775,12775,12775,12775,8283,Fasting hyperinsulinemia,HPO,phenotype,PHENOTYPE_12775
12776,12776,12776,12776,12776,12776,12776,12776,1022,Albinism,HPO,phenotype,PHENOTYPE_12776
12777,12777,12777,12777,12777,12777,12777,12777,5400,Reduction of neutrophil motility,HPO,phenotype,PHENOTYPE_12777
12778,12778,12778,12778,12778,12778,12778,12778,31094,Abnormal breast physiology,HPO,phenotype,PHENOTYPE_12778
12779,12779,12779,12779,12779,12779,12779,12779,11208,EEG with generalized slow activity grade 3,HPO,phenotype,PHENOTYPE_12779
12780,12780,12780,12780,12780,12780,12780,12780,6774,Ovarian papillary adenocarcinoma,HPO,phenotype,PHENOTYPE_12780
12781,12781,12781,12781,12781,12781,12781,12781,30468,Abnormal multifocal electroretinogram,HPO,phenotype,PHENOTYPE_12781
12782,12782,12782,12782,12782,12782,12782,12782,34635,Muscle fiber granulofilamentous inclusion bodies,HPO,phenotype,PHENOTYPE_12782
12783,12783,12783,12783,12783,12783,12783,12783,12196,Cheyne-Stokes respiration,HPO,phenotype,PHENOTYPE_12783
12784,12784,12784,12784,12784,12784,12784,12784,100460,Osteolytic defects of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_12784
12785,12785,12785,12785,12785,12785,12785,12785,10513,Pituitary calcification,HPO,phenotype,PHENOTYPE_12785
12786,12786,12786,12786,12786,12786,12786,12786,6768,Localized neuroblastoma,HPO,phenotype,PHENOTYPE_12786
12787,12787,12787,12787,12787,12787,12787,12787,4000026,Anti-transglutaminase 6 antibody,HPO,phenotype,PHENOTYPE_12787
12788,12788,12788,12788,12788,12788,12788,12788,30937,Fibrotic muscularis propria,HPO,phenotype,PHENOTYPE_12788
12789,12789,12789,12789,12789,12789,12789,12789,7656,Lacrimal gland aplasia,HPO,phenotype,PHENOTYPE_12789
12790,12790,12790,12790,12790,12790,12790,12790,1682,Subvalvular aortic stenosis,HPO,phenotype,PHENOTYPE_12790
12791,12791,12791,12791,12791,12791,12791,12791,3216,Generalized amyloid deposition,HPO,phenotype,PHENOTYPE_12791
12792,12792,12792,12792,12792,12792,12792,12792,200064,Asymmetry of iris pigmentation,HPO,phenotype,PHENOTYPE_12792
12793,12793,12793,12793,12793,12793,12793,12793,12083,Ubiquitin-positive cerebral inclusion bodies,HPO,phenotype,PHENOTYPE_12793
12794,12794,12794,12794,12794,12794,12794,12794,2322,Resting tremor,HPO,phenotype,PHENOTYPE_12794
12795,12795,12795,12795,12795,12795,12795,12795,25404,Abnormal visual fixation,HPO,phenotype,PHENOTYPE_12795
12796,12796,12796,12796,12796,12796,12796,12796,30206,EMG: incremental response of compound muscle action potential to repetitive nerve stimulation,HPO,phenotype,PHENOTYPE_12796
12797,12797,12797,12797,12797,12797,12797,12797,3406,Peripheral nerve compression,HPO,phenotype,PHENOTYPE_12797
12798,12798,12798,12798,12798,12798,12798,12798,32687,Focal cognitive seizure with memory impairment,HPO,phenotype,PHENOTYPE_12798
12799,12799,12799,12799,12799,12799,12799,12799,33401,Tissue ischemia,HPO,phenotype,PHENOTYPE_12799
12800,12800,12800,12800,12800,12800,12800,12800,32806,Focal impaired awareness sensory seizure with visual features,HPO,phenotype,PHENOTYPE_12800
12801,12801,12801,12801,12801,12801,12801,12801,6001155,Pain at the lateral aspect of the knee,HPO,phenotype,PHENOTYPE_12801
12802,12802,12802,12802,12802,12802,12802,12802,4000160,Typified by low penetrance,HPO,phenotype,PHENOTYPE_12802
12803,12803,12803,12803,12803,12803,12803,12803,33080,Abnormal TSH response to thyrotrophin-releasing hormone stimulation test,HPO,phenotype,PHENOTYPE_12803
12804,12804,12804,12804,12804,12804,12804,12804,5588,Patchy palmoplantar hyperkeratosis,HPO,phenotype,PHENOTYPE_12804
12805,12805,12805,12805,12805,12805,12805,12805,7850,Retinal vascular proliferation,HPO,phenotype,PHENOTYPE_12805
12806,12806,12806,12806,12806,12806,12806,12806,30785,Mediastinal cystic lymphangioma,HPO,phenotype,PHENOTYPE_12806
12807,12807,12807,12807,12807,12807,12807,12807,6019,Reduced proximal interphalangeal joint space,HPO,phenotype,PHENOTYPE_12807
12808,12808,12808,12808,12808,12808,12808,12808,31715,Near exotropia,HPO,phenotype,PHENOTYPE_12808
12809,12809,12809,12809,12809,12809,12809,12809,31867,Neck hypertonia,HPO,phenotype,PHENOTYPE_12809
12810,12810,12810,12810,12810,12810,12810,12810,30322,Vertebral artery hypoplasia,HPO,phenotype,PHENOTYPE_12810
12811,12811,12811,12811,12811,12811,12811,12811,34577,Reduced epidermal collagen VII protein expression,HPO,phenotype,PHENOTYPE_12811
12812,12812,12812,12812,12812,12812,12812,12812,32339,Polyclonal elevated circulating IgE concentration,HPO,phenotype,PHENOTYPE_12812
12813,12813,12813,12813,12813,12813,12813,12813,32083,Aortic elastic fiber fragmentation,HPO,phenotype,PHENOTYPE_12813
12814,12814,12814,12814,12814,12814,12814,12814,12712,Mild hearing impairment,HPO,phenotype,PHENOTYPE_12814
12815,12815,12815,12815,12815,12815,12815,12815,4979,Metaphyseal sclerosis,HPO,phenotype,PHENOTYPE_12815
12816,12816,12816,12816,12816,12816,12816,12816,25292,Acral,HPO,phenotype,PHENOTYPE_12816
12817,12817,12817,12817,12817,12817,12817,12817,31552,Reduced fibroblast surface marker level,HPO,phenotype,PHENOTYPE_12817
12818,12818,12818,12818,12818,12818,12818,12818,6000016,Elevated circulating vitamin B12 concentration,HPO,phenotype,PHENOTYPE_12818
12819,12819,12819,12819,12819,12819,12819,12819,9379,Rhomboid or triangular shaped 5th finger distal phalanx,HPO,phenotype,PHENOTYPE_12819
12820,12820,12820,12820,12820,12820,12820,12820,30531,Altitudinal visual field defect,HPO,phenotype,PHENOTYPE_12820
12821,12821,12821,12821,12821,12821,12821,12821,32114,Saccadic intrusion,HPO,phenotype,PHENOTYPE_12821
12822,12822,12822,12822,12822,12822,12822,12822,30949,Glomerular deposits,HPO,phenotype,PHENOTYPE_12822
12823,12823,12823,12823,12823,12823,12823,12823,31781,Microtropia with identity,HPO,phenotype,PHENOTYPE_12823
12824,12824,12824,12824,12824,12824,12824,12824,12700,Abnormal large intestine physiology,HPO,phenotype,PHENOTYPE_12824
12825,12825,12825,12825,12825,12825,12825,12825,3390,Sensory axonal neuropathy,HPO,phenotype,PHENOTYPE_12825
12826,12826,12826,12826,12826,12826,12826,12826,25124,Fragile teeth,HPO,phenotype,PHENOTYPE_12826
12827,12827,12827,12827,12827,12827,12827,12827,34493,Tubo-ovarian abscess,HPO,phenotype,PHENOTYPE_12827
12828,12828,12828,12828,12828,12828,12828,12828,3384,Peripheral axonal atrophy,HPO,phenotype,PHENOTYPE_12828
12829,12829,12829,12829,12829,12829,12829,12829,10841,Multifocal epileptiform discharges,HPO,phenotype,PHENOTYPE_12829
12830,12830,12830,12830,12830,12830,12830,12830,9541,Abnormality of the phalanges of the 2nd finger,HPO,phenotype,PHENOTYPE_12830
12831,12831,12831,12831,12831,12831,12831,12831,33632,Abnormal alveolar volume,HPO,phenotype,PHENOTYPE_12831
12832,12832,12832,12832,12832,12832,12832,12832,100256,Senile plaques,HPO,phenotype,PHENOTYPE_12832
12833,12833,12833,12833,12833,12833,12833,12833,31938,Abnormal conus terminalis morphology,HPO,phenotype,PHENOTYPE_12833
12834,12834,12834,12834,12834,12834,12834,12834,6483,Abnormal number of teeth,HPO,phenotype,PHENOTYPE_12834
12835,12835,12835,12835,12835,12835,12835,12835,410200,Positive meconium barbiturate test,HPO,phenotype,PHENOTYPE_12835
12836,12836,12836,12836,12836,12836,12836,12836,34439,Instep location,HPO,phenotype,PHENOTYPE_12836
12837,12837,12837,12837,12837,12837,12837,12837,430074,Increased circulating beta-carotene concentration,HPO,phenotype,PHENOTYPE_12837
12838,12838,12838,12838,12838,12838,12838,12838,200111,Absent stapes head,HPO,phenotype,PHENOTYPE_12838
12839,12839,12839,12839,12839,12839,12839,12839,2933,Ventral hernia,HPO,phenotype,PHENOTYPE_12839
12840,12840,12840,12840,12840,12840,12840,12840,32773,Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole,HPO,phenotype,PHENOTYPE_12840
12841,12841,12841,12841,12841,12841,12841,12841,200073,Respiratory insufficiency due to defective ciliary clearance,HPO,phenotype,PHENOTYPE_12841
12842,12842,12842,12842,12842,12842,12842,12842,7791,Patchy atrophy of the retinal pigment epithelium,HPO,phenotype,PHENOTYPE_12842
12843,12843,12843,12843,12843,12843,12843,12843,30102,Reduced muscle fiber alpha sarcoglycan,HPO,phenotype,PHENOTYPE_12843
12844,12844,12844,12844,12844,12844,12844,12844,2474,Expressive language delay,HPO,phenotype,PHENOTYPE_12844
12845,12845,12845,12845,12845,12845,12845,12845,34700,Reduced aromatase activity,HPO,phenotype,PHENOTYPE_12845
12846,12846,12846,12846,12846,12846,12846,12846,4000179,Potassium-wasting diuretic exposure,HPO,phenotype,PHENOTYPE_12846
12847,12847,12847,12847,12847,12847,12847,12847,34969,Endosteal scalloping,HPO,phenotype,PHENOTYPE_12847
12848,12848,12848,12848,12848,12848,12848,12848,1923,Reticulocytosis,HPO,phenotype,PHENOTYPE_12848
12849,12849,12849,12849,12849,12849,12849,12849,31950,Usual interstitial pneumonia,HPO,phenotype,PHENOTYPE_12849
12850,12850,12850,12850,12850,12850,12850,12850,3826,Stillbirth,HPO,phenotype,PHENOTYPE_12850
12851,12851,12851,12851,12851,12851,12851,12851,430032,Electronic cigarette exposure history,HPO,phenotype,PHENOTYPE_12851
12852,12852,12852,12852,12852,12852,12852,12852,34167,Abnormal circulating interleukin 22 concentration,HPO,phenotype,PHENOTYPE_12852
12853,12853,12853,12853,12853,12853,12853,12853,601,Hypotelorism,HPO,phenotype,PHENOTYPE_12853
12854,12854,12854,12854,12854,12854,12854,12854,8097,Partial fusion of tarsals,HPO,phenotype,PHENOTYPE_12854
12855,12855,12855,12855,12855,12855,12855,12855,410369,Increased hepatitis B virus antibody level,HPO,phenotype,PHENOTYPE_12855
12856,12856,12856,12856,12856,12856,12856,12856,31289,White papule,HPO,phenotype,PHENOTYPE_12856
12857,12857,12857,12857,12857,12857,12857,12857,10604,Cyst of the eyelid,HPO,phenotype,PHENOTYPE_12857
12858,12858,12858,12858,12858,12858,12858,12858,6000315,Postmenopausal onset,HPO,phenotype,PHENOTYPE_12858
12859,12859,12859,12859,12859,12859,12859,12859,9344,Stippling of the epiphysis of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_12859
12860,12860,12860,12860,12860,12860,12860,12860,6000198,Reduced muscle phosphorylase kinase activity,HPO,phenotype,PHENOTYPE_12860
12861,12861,12861,12861,12861,12861,12861,12861,35015,Elevated circulating short-chain acylcarnitine concentration,HPO,phenotype,PHENOTYPE_12861
12862,12862,12862,12862,12862,12862,12862,12862,32609,Endocrine-type tubular atrophy,HPO,phenotype,PHENOTYPE_12862
12863,12863,12863,12863,12863,12863,12863,12863,25633,Abnormal ureter morphology,HPO,phenotype,PHENOTYPE_12863
12864,12864,12864,12864,12864,12864,12864,12864,410179,Decreased glucose-6-phosphate dehydrogenase level in blood,HPO,phenotype,PHENOTYPE_12864
12865,12865,12865,12865,12865,12865,12865,12865,10235,Pseudoepiphyses of the phalanges of the hand,HPO,phenotype,PHENOTYPE_12865
12866,12866,12866,12866,12866,12866,12866,12866,3911,Flared humeral metaphysis,HPO,phenotype,PHENOTYPE_12866
12867,12867,12867,12867,12867,12867,12867,12867,11193,EEG with focal spikes,HPO,phenotype,PHENOTYPE_12867
12868,12868,12868,12868,12868,12868,12868,12868,11168,Focal seizure with eyelid myoclonia,HPO,phenotype,PHENOTYPE_12868
12869,12869,12869,12869,12869,12869,12869,12869,4000104,Curved dental root,HPO,phenotype,PHENOTYPE_12869
12870,12870,12870,12870,12870,12870,12870,12870,40158,Short intermamillary distance,HPO,phenotype,PHENOTYPE_12870
12871,12871,12871,12871,12871,12871,12871,12871,25534,Ocular melanocytosis,HPO,phenotype,PHENOTYPE_12871
12872,12872,12872,12872,12872,12872,12872,12872,8757,Unilateral vocal cord paralysis,HPO,phenotype,PHENOTYPE_12872
12873,12873,12873,12873,12873,12873,12873,12873,31559,Reduced fibroblast CD16 level,HPO,phenotype,PHENOTYPE_12873
12874,12874,12874,12874,12874,12874,12874,12874,31455,Presacral ganglioneuroma,HPO,phenotype,PHENOTYPE_12874
12875,12875,12875,12875,12875,12875,12875,12875,32810,Focal sensory seizure with cephalic sensation,HPO,phenotype,PHENOTYPE_12875
12876,12876,12876,12876,12876,12876,12876,12876,31067,Empty ovarian follicle,HPO,phenotype,PHENOTYPE_12876
12877,12877,12877,12877,12877,12877,12877,12877,25287,Axial,HPO,phenotype,PHENOTYPE_12877
12878,12878,12878,12878,12878,12878,12878,12878,7905,Abnormal iris vasculature,HPO,phenotype,PHENOTYPE_12878
12879,12879,12879,12879,12879,12879,12879,12879,430005,Abnormal ethmoid bone morphology,HPO,phenotype,PHENOTYPE_12879
12880,12880,12880,12880,12880,12880,12880,12880,9281,Aplasia of the 4th finger,HPO,phenotype,PHENOTYPE_12880
12881,12881,12881,12881,12881,12881,12881,12881,6000764,Decreased CSF tetrahydrobiopterin level,HPO,phenotype,PHENOTYPE_12881
12882,12882,12882,12882,12882,12882,12882,12882,32012,Heterotropia,HPO,phenotype,PHENOTYPE_12882
12883,12883,12883,12883,12883,12883,12883,12883,11275,Recurrent mycobacterium avium complex infections,HPO,phenotype,PHENOTYPE_12883
12884,12884,12884,12884,12884,12884,12884,12884,430136,Reduced circulating aspartate aminotransferase concentration,HPO,phenotype,PHENOTYPE_12884
12885,12885,12885,12885,12885,12885,12885,12885,410013,Abnormality of the submandibular region,HPO,phenotype,PHENOTYPE_12885
12886,12886,12886,12886,12886,12886,12886,12886,6000199,Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_12886
12887,12887,12887,12887,12887,12887,12887,12887,1662,Bradycardia,HPO,phenotype,PHENOTYPE_12887
12888,12888,12888,12888,12888,12888,12888,12888,12539,Non-Hodgkin lymphoma,HPO,phenotype,PHENOTYPE_12888
12889,12889,12889,12889,12889,12889,12889,12889,33233,Paramesangial deposits,HPO,phenotype,PHENOTYPE_12889
12890,12890,12890,12890,12890,12890,12890,12890,2460,Distal muscle weakness,HPO,phenotype,PHENOTYPE_12890
12891,12891,12891,12891,12891,12891,12891,12891,30592,Abnormal static perimetry test,HPO,phenotype,PHENOTYPE_12891
12892,12892,12892,12892,12892,12892,12892,12892,30811,Tongue pain,HPO,phenotype,PHENOTYPE_12892
12893,12893,12893,12893,12893,12893,12893,12893,8459,Cervical vertebral agenesis,HPO,phenotype,PHENOTYPE_12893
12894,12894,12894,12894,12894,12894,12894,12894,7958,Optic atrophy from cranial nerve compression,HPO,phenotype,PHENOTYPE_12894
12895,12895,12895,12895,12895,12895,12895,12895,33715,Hippocampal sclerosis,HPO,phenotype,PHENOTYPE_12895
12896,12896,12896,12896,12896,12896,12896,12896,179,Thick lower lip vermilion,HPO,phenotype,PHENOTYPE_12896
12897,12897,12897,12897,12897,12897,12897,12897,41146,Fractured coccyx,HPO,phenotype,PHENOTYPE_12897
12898,12898,12898,12898,12898,12898,12898,12898,321,Square face,HPO,phenotype,PHENOTYPE_12898
12899,12899,12899,12899,12899,12899,12899,12899,25796,Positive urine Legionella pneumophila antigen test,HPO,phenotype,PHENOTYPE_12899
12900,12900,12900,12900,12900,12900,12900,12900,5197,Generalized morning stiffness,HPO,phenotype,PHENOTYPE_12900
12901,12901,12901,12901,12901,12901,12901,12901,6000391,Elevated urine hyaluronic acid level,HPO,phenotype,PHENOTYPE_12901
12902,12902,12902,12902,12902,12902,12902,12902,25051,Reduced brain creatine level by MRS,HPO,phenotype,PHENOTYPE_12902
12903,12903,12903,12903,12903,12903,12903,12903,32305,Decreased circulating mannose-binding protein concentration,HPO,phenotype,PHENOTYPE_12903
12904,12904,12904,12904,12904,12904,12904,12904,3917,Pointed humeral metaphysis,HPO,phenotype,PHENOTYPE_12904
12905,12905,12905,12905,12905,12905,12905,12905,200094,Frontal open bite,HPO,phenotype,PHENOTYPE_12905
12906,12906,12906,12906,12906,12906,12906,12906,5627,Type D brachydactyly,HPO,phenotype,PHENOTYPE_12906
12907,12907,12907,12907,12907,12907,12907,12907,32738,Focal aware emotional seizure with fear/anxiety/panic,HPO,phenotype,PHENOTYPE_12907
12908,12908,12908,12908,12908,12908,12908,12908,1334,Communicating hydrocephalus,HPO,phenotype,PHENOTYPE_12908
12909,12909,12909,12909,12909,12909,12909,12909,100424,Partial duplication of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_12909
12910,12910,12910,12910,12910,12910,12910,12910,6699,Premature atrial contractions,HPO,phenotype,PHENOTYPE_12910
12911,12911,12911,12911,12911,12911,12911,12911,45048,Increased HbA2 hemoglobin,HPO,phenotype,PHENOTYPE_12911
12912,12912,12912,12912,12912,12912,12912,12912,33327,Nail psoriasis,HPO,phenotype,PHENOTYPE_12912
12913,12913,12913,12913,12913,12913,12913,12913,100310,Epidural hemorrhage,HPO,phenotype,PHENOTYPE_12913
12914,12914,12914,12914,12914,12914,12914,12914,30186,Kinetic tremor,HPO,phenotype,PHENOTYPE_12914
12915,12915,12915,12915,12915,12915,12915,12915,45014,Hypolipidemia,HPO,phenotype,PHENOTYPE_12915
12916,12916,12916,12916,12916,12916,12916,12916,197,Abnormal parotid gland morphology,HPO,phenotype,PHENOTYPE_12916
12917,12917,12917,12917,12917,12917,12917,12917,9900,Unilateral deafness,HPO,phenotype,PHENOTYPE_12917
12918,12918,12918,12918,12918,12918,12918,12918,34354,Trichoschisis,HPO,phenotype,PHENOTYPE_12918
12919,12919,12919,12919,12919,12919,12919,12919,25449,Apically displaced anterolateral papillary muscle,HPO,phenotype,PHENOTYPE_12919
12920,12920,12920,12920,12920,12920,12920,12920,32460,Decreased phosphoribosylpyrophosphate synthetase level,HPO,phenotype,PHENOTYPE_12920
12921,12921,12921,12921,12921,12921,12921,12921,1465,Amyotrophy involving the shoulder musculature,HPO,phenotype,PHENOTYPE_12921
12922,12922,12922,12922,12922,12922,12922,12922,2504,Calcification of the small brain vessels,HPO,phenotype,PHENOTYPE_12922
12923,12923,12923,12923,12923,12923,12923,12923,32759,Focal sensory seizure with vestibular features,HPO,phenotype,PHENOTYPE_12923
12924,12924,12924,12924,12924,12924,12924,12924,32814,Neonatal electro-clinical clonic seizure,HPO,phenotype,PHENOTYPE_12924
12925,12925,12925,12925,12925,12925,12925,12925,376,Incomplete partition of the cochlea type II,HPO,phenotype,PHENOTYPE_12925
12926,12926,12926,12926,12926,12926,12926,12926,6943,Diffuse spongiform leukoencephalopathy,HPO,phenotype,PHENOTYPE_12926
12927,12927,12927,12927,12927,12927,12927,12927,410171,Increased cotinine level,HPO,phenotype,PHENOTYPE_12927
12928,12928,12928,12928,12928,12928,12928,12928,32178,Flaky paint dermatosis,HPO,phenotype,PHENOTYPE_12928
12929,12929,12929,12929,12929,12929,12929,12929,3349,Low cholesterol esterification rate,HPO,phenotype,PHENOTYPE_12929
12930,12930,12930,12930,12930,12930,12930,12930,31360,Yellow skin plaque,HPO,phenotype,PHENOTYPE_12930
12931,12931,12931,12931,12931,12931,12931,12931,2539,Cortical dysplasia,HPO,phenotype,PHENOTYPE_12931
12932,12932,12932,12932,12932,12932,12932,12932,30456,Abnormality of pattern onset/offset visual evoked potentials,HPO,phenotype,PHENOTYPE_12932
12933,12933,12933,12933,12933,12933,12933,12933,20167,Hemiretinal vein occlusion,HPO,phenotype,PHENOTYPE_12933
12934,12934,12934,12934,12934,12934,12934,12934,11895,Anemia due to reduced life span of red cells,HPO,phenotype,PHENOTYPE_12934
12935,12935,12935,12935,12935,12935,12935,12935,5464,Craniofacial osteosclerosis,HPO,phenotype,PHENOTYPE_12935
12936,12936,12936,12936,12936,12936,12936,12936,1830,Postaxial foot polydactyly,HPO,phenotype,PHENOTYPE_12936
12937,12937,12937,12937,12937,12937,12937,12937,190,Abnormal oral frenulum morphology,HPO,phenotype,PHENOTYPE_12937
12938,12938,12938,12938,12938,12938,12938,12938,9224,Triangular epiphysis of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_12938
12939,12939,12939,12939,12939,12939,12939,12939,2996,Limited elbow movement,HPO,phenotype,PHENOTYPE_12939
12940,12940,12940,12940,12940,12940,12940,12940,30062,Craniopharyngioma,HPO,phenotype,PHENOTYPE_12940
12941,12941,12941,12941,12941,12941,12941,12941,100506,Decreased circulating vitamin B8 concentration,HPO,phenotype,PHENOTYPE_12941
12942,12942,12942,12942,12942,12942,12942,12942,32896,Music-induced seizure,HPO,phenotype,PHENOTYPE_12942
12943,12943,12943,12943,12943,12943,12943,12943,500043,Eyelid retraction,HPO,phenotype,PHENOTYPE_12943
12944,12944,12944,12944,12944,12944,12944,12944,100124,Cone-shaped epiphysis of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_12944
12945,12945,12945,12945,12945,12945,12945,12945,34770,Lumbar hypolordosis,HPO,phenotype,PHENOTYPE_12945
12946,12946,12946,12946,12946,12946,12946,12946,31489,Venous malformation of the lip,HPO,phenotype,PHENOTYPE_12946
12947,12947,12947,12947,12947,12947,12947,12947,33519,Addictive methamphetamine use,HPO,phenotype,PHENOTYPE_12947
12948,12948,12948,12948,12948,12948,12948,12948,32915,Focal aware vocal automatism seizure,HPO,phenotype,PHENOTYPE_12948
12949,12949,12949,12949,12949,12949,12949,12949,100828,Increased T cell count,HPO,phenotype,PHENOTYPE_12949
12950,12950,12950,12950,12950,12950,12950,12950,4737,Global glomerulosclerosis,HPO,phenotype,PHENOTYPE_12950
12951,12951,12951,12951,12951,12951,12951,12951,5622,Broad long bones,HPO,phenotype,PHENOTYPE_12951
12952,12952,12952,12952,12952,12952,12952,12952,25280,Pain characteristic,HPO,phenotype,PHENOTYPE_12952
12953,12953,12953,12953,12953,12953,12953,12953,10006,Duplication of the proximal phalanx of hand,HPO,phenotype,PHENOTYPE_12953
12954,12954,12954,12954,12954,12954,12954,12954,8338,Partial functional complement factor D deficiency,HPO,phenotype,PHENOTYPE_12954
12955,12955,12955,12955,12955,12955,12955,12955,3934,Slender humeral diaphysis,HPO,phenotype,PHENOTYPE_12955
12956,12956,12956,12956,12956,12956,12956,12956,7628,Mandibular condyle hypoplasia,HPO,phenotype,PHENOTYPE_12956
12957,12957,12957,12957,12957,12957,12957,12957,410355,Decreased sialylated N-glycan level,HPO,phenotype,PHENOTYPE_12957
12958,12958,12958,12958,12958,12958,12958,12958,33981,Vertebral artery tortuosity,HPO,phenotype,PHENOTYPE_12958
12959,12959,12959,12959,12959,12959,12959,12959,11890,Prolonged bleeding following procedure,HPO,phenotype,PHENOTYPE_12959
12960,12960,12960,12960,12960,12960,12960,12960,1152,Saccadic smooth pursuit,HPO,phenotype,PHENOTYPE_12960
12961,12961,12961,12961,12961,12961,12961,12961,30821,Hooded lower eyelid,HPO,phenotype,PHENOTYPE_12961
12962,12962,12962,12962,12962,12962,12962,12962,31276,Obstructive shock,HPO,phenotype,PHENOTYPE_12962
12963,12963,12963,12963,12963,12963,12963,12963,32298,Increased circulating IgG1 level,HPO,phenotype,PHENOTYPE_12963
12964,12964,12964,12964,12964,12964,12964,12964,32877,Focal aware sensory seizure with hot-cold sensations,HPO,phenotype,PHENOTYPE_12964
12965,12965,12965,12965,12965,12965,12965,12965,20258,Germinal centers with absent marginal zones,HPO,phenotype,PHENOTYPE_12965
12966,12966,12966,12966,12966,12966,12966,12966,6561,Lipid accumulation in hepatocytes,HPO,phenotype,PHENOTYPE_12966
12967,12967,12967,12967,12967,12967,12967,12967,410219,Hypoplasia of mandible relative to maxilla,HPO,phenotype,PHENOTYPE_12967
12968,12968,12968,12968,12968,12968,12968,12968,480,Retinal coloboma,HPO,phenotype,PHENOTYPE_12968
12969,12969,12969,12969,12969,12969,12969,12969,2703,Abnormality of skull ossification,HPO,phenotype,PHENOTYPE_12969
12970,12970,12970,12970,12970,12970,12970,12970,7880,Marginal corneal dystrophy,HPO,phenotype,PHENOTYPE_12970
12971,12971,12971,12971,12971,12971,12971,12971,8423,Spinal dysplasia,HPO,phenotype,PHENOTYPE_12971
12972,12972,12972,12972,12972,12972,12972,12972,4244,Accessory scaphoid,HPO,phenotype,PHENOTYPE_12972
12973,12973,12973,12973,12973,12973,12973,12973,3307,Hyperlordosis,HPO,phenotype,PHENOTYPE_12973
12974,12974,12974,12974,12974,12974,12974,12974,9890,High anterior hairline,HPO,phenotype,PHENOTYPE_12974
12975,12975,12975,12975,12975,12975,12975,12975,12891,High posterior hairline,HPO,phenotype,PHENOTYPE_12975
12976,12976,12976,12976,12976,12976,12976,12976,31563,Coronary arteriovenous fistula,HPO,phenotype,PHENOTYPE_12976
12977,12977,12977,12977,12977,12977,12977,12977,1357,Plagiocephaly,HPO,phenotype,PHENOTYPE_12977
12978,12978,12978,12978,12978,12978,12978,12978,31072,Abnormal endocrine physiology,HPO,phenotype,PHENOTYPE_12978
12979,12979,12979,12979,12979,12979,12979,12979,8421,Tall lumbar vertebral bodies,HPO,phenotype,PHENOTYPE_12979
12980,12980,12980,12980,12980,12980,12980,12980,1033,Facial flushing after alcohol intake,HPO,phenotype,PHENOTYPE_12980
12981,12981,12981,12981,12981,12981,12981,12981,11356,Regional abnormality of skin,HPO,phenotype,PHENOTYPE_12981
12982,12982,12982,12982,12982,12982,12982,12982,2916,Abnormality of chromosome segregation,HPO,phenotype,PHENOTYPE_12982
12983,12983,12983,12983,12983,12983,12983,12983,1062,Atypical nevus,HPO,phenotype,PHENOTYPE_12983
12984,12984,12984,12984,12984,12984,12984,12984,31573,Tessier number 2 facial cleft,HPO,phenotype,PHENOTYPE_12984
12985,12985,12985,12985,12985,12985,12985,12985,410167,Abnormal morphology of the chest musculature,HPO,phenotype,PHENOTYPE_12985
12986,12986,12986,12986,12986,12986,12986,12986,6000135,Low semen volume,HPO,phenotype,PHENOTYPE_12986
12987,12987,12987,12987,12987,12987,12987,12987,31348,Dextrotransposition of the great arteries,HPO,phenotype,PHENOTYPE_12987
12988,12988,12988,12988,12988,12988,12988,12988,33630,Brain fog,HPO,phenotype,PHENOTYPE_12988
12989,12989,12989,12989,12989,12989,12989,12989,5207,Gastric hypertrophy,HPO,phenotype,PHENOTYPE_12989
12990,12990,12990,12990,12990,12990,12990,12990,6000600,Elevated urinary 2-oxovaleric acid level,HPO,phenotype,PHENOTYPE_12990
12991,12991,12991,12991,12991,12991,12991,12991,30440,Anal margin neoplasm,HPO,phenotype,PHENOTYPE_12991
12992,12992,12992,12992,12992,12992,12992,12992,32252,Granuloma,HPO,phenotype,PHENOTYPE_12992
12993,12993,12993,12993,12993,12993,12993,12993,7643,Peripheral tractional retinal detachment,HPO,phenotype,PHENOTYPE_12993
12994,12994,12994,12994,12994,12994,12994,12994,25354,Abnormal cellular phenotype,HPO,phenotype,PHENOTYPE_12994
12995,12995,12995,12995,12995,12995,12995,12995,1140,Limbal dermoid,HPO,phenotype,PHENOTYPE_12995
12996,12996,12996,12996,12996,12996,12996,12996,31166,Eyelid myokymia,HPO,phenotype,PHENOTYPE_12996
12997,12997,12997,12997,12997,12997,12997,12997,11338,Abnormality of mouth shape,HPO,phenotype,PHENOTYPE_12997
12998,12998,12998,12998,12998,12998,12998,12998,5819,Short middle phalanx of finger,HPO,phenotype,PHENOTYPE_12998
12999,12999,12999,12999,12999,12999,12999,12999,33854,Abnormal interlobular vein morphology,HPO,phenotype,PHENOTYPE_12999
13000,13000,13000,13000,13000,13000,13000,13000,9144,Supernumerary bones of the axial skeleton,HPO,phenotype,PHENOTYPE_13000
13001,13001,13001,13001,13001,13001,13001,13001,32420,Increased HDL2a concentration,HPO,phenotype,PHENOTYPE_13001
13002,13002,13002,13002,13002,13002,13002,13002,100450,Curved distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_13002
13003,13003,13003,13003,13003,13003,13003,13003,100356,Contracture of the metatarsophalangeal joint of the 2nd toe,HPO,phenotype,PHENOTYPE_13003
13004,13004,13004,13004,13004,13004,13004,13004,11422,Abnormal blood chloride concentration,HPO,phenotype,PHENOTYPE_13004
13005,13005,13005,13005,13005,13005,13005,13005,10335,Abnormality of the epiphyses of the 4th toe,HPO,phenotype,PHENOTYPE_13005
13006,13006,13006,13006,13006,13006,13006,13006,100542,Abnormal localization of kidney,HPO,phenotype,PHENOTYPE_13006
13007,13007,13007,13007,13007,13007,13007,13007,4295,Abnormal gastric mucosa morphology,HPO,phenotype,PHENOTYPE_13007
13008,13008,13008,13008,13008,13008,13008,13008,10368,Abnormality of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_13008
13009,13009,13009,13009,13009,13009,13009,13009,7738,Uncontrolled eye movements,HPO,phenotype,PHENOTYPE_13009
13010,13010,13010,13010,13010,13010,13010,13010,9338,Enlarged epiphysis of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_13010
13011,13011,13011,13011,13011,13011,13011,13011,8422,Vertebral wedging,HPO,phenotype,PHENOTYPE_13011
13012,13012,13012,13012,13012,13012,13012,13012,9511,Stippling of the epiphysis of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_13012
13013,13013,13013,13013,13013,13013,13013,13013,33713,Anti-signal recognition particle antibody positivity,HPO,phenotype,PHENOTYPE_13013
13014,13014,13014,13014,13014,13014,13014,13014,2168,Scanning speech,HPO,phenotype,PHENOTYPE_13014
13015,13015,13015,13015,13015,13015,13015,13015,31611,Sub-inner limiting membrane hemorrhage,HPO,phenotype,PHENOTYPE_13015
13016,13016,13016,13016,13016,13016,13016,13016,30751,Grade IV preterm intraventricular hemorrhage,HPO,phenotype,PHENOTYPE_13016
13017,13017,13017,13017,13017,13017,13017,13017,11753,Posterior pituitary dysgenesis,HPO,phenotype,PHENOTYPE_13017
13018,13018,13018,13018,13018,13018,13018,13018,6226,Osteoarthritis of the first carpometacarpal joint,HPO,phenotype,PHENOTYPE_13018
13019,13019,13019,13019,13019,13019,13019,13019,6000557,Reduced erythrocyte bisphosphoglycerate mutase activity,HPO,phenotype,PHENOTYPE_13019
13020,13020,13020,13020,13020,13020,13020,13020,12780,Neoplasm of the ear,HPO,phenotype,PHENOTYPE_13020
13021,13021,13021,13021,13021,13021,13021,13021,10712,1-4 toe syndactyly,HPO,phenotype,PHENOTYPE_13021
13022,13022,13022,13022,13022,13022,13022,13022,32963,Complex renal cyst,HPO,phenotype,PHENOTYPE_13022
13023,13023,13023,13023,13023,13023,13023,13023,30818,Central nail canal,HPO,phenotype,PHENOTYPE_13023
13024,13024,13024,13024,13024,13024,13024,13024,32979,Hemosiderin-laden macrophages in bronchoalveolar fluid,HPO,phenotype,PHENOTYPE_13024
13025,13025,13025,13025,13025,13025,13025,13025,34292,Reduced circulating creatine concentration,HPO,phenotype,PHENOTYPE_13025
13026,13026,13026,13026,13026,13026,13026,13026,11189,Bilateral multifocal epileptiform discharges,HPO,phenotype,PHENOTYPE_13026
13027,13027,13027,13027,13027,13027,13027,13027,25741,Brainstem lucency,HPO,phenotype,PHENOTYPE_13027
13028,13028,13028,13028,13028,13028,13028,13028,20085,Infection following live vaccination,HPO,phenotype,PHENOTYPE_13028
13029,13029,13029,13029,13029,13029,13029,13029,11721,Infracardiac total anomalous pulmonary venous connection,HPO,phenotype,PHENOTYPE_13029
13030,13030,13030,13030,13030,13030,13030,13030,33170,Abnormal skinfold thickness measurement,HPO,phenotype,PHENOTYPE_13030
13031,13031,13031,13031,13031,13031,13031,13031,7404,Nonepidermolytic palmoplantar hyperkeratosis,HPO,phenotype,PHENOTYPE_13031
13032,13032,13032,13032,13032,13032,13032,13032,12824,Severity,HPO,phenotype,PHENOTYPE_13032
13033,13033,13033,13033,13033,13033,13033,13033,30391,Spoken word recognition deficit,HPO,phenotype,PHENOTYPE_13033
13034,13034,13034,13034,13034,13034,13034,13034,40421,Abnormal urinary inosine level,HPO,phenotype,PHENOTYPE_13034
13035,13035,13035,13035,13035,13035,13035,13035,30938,Enteric intraneuronal nuclear inclusion bodies,HPO,phenotype,PHENOTYPE_13035
13036,13036,13036,13036,13036,13036,13036,13036,31020,Bone marrow hypercellularity,HPO,phenotype,PHENOTYPE_13036
13037,13037,13037,13037,13037,13037,13037,13037,31586,Tessier number 14 facial cleft,HPO,phenotype,PHENOTYPE_13037
13038,13038,13038,13038,13038,13038,13038,13038,7299,Dysfunction of lateral corticospinal tracts,HPO,phenotype,PHENOTYPE_13038
13039,13039,13039,13039,13039,13039,13039,13039,4684,Talipes valgus,HPO,phenotype,PHENOTYPE_13039
13040,13040,13040,13040,13040,13040,13040,13040,5927,Aplasia/hypoplasia involving bones of the hand,HPO,phenotype,PHENOTYPE_13040
13041,13041,13041,13041,13041,13041,13041,13041,2313,Spastic paraparesis,HPO,phenotype,PHENOTYPE_13041
13042,13042,13042,13042,13042,13042,13042,13042,3932,Sclerotic foci of humeral diaphysis,HPO,phenotype,PHENOTYPE_13042
13043,13043,13043,13043,13043,13043,13043,13043,100654,Retrobulbar optic neuritis,HPO,phenotype,PHENOTYPE_13043
13044,13044,13044,13044,13044,13044,13044,13044,1961,Hypoplastic heart,HPO,phenotype,PHENOTYPE_13044
13045,13045,13045,13045,13045,13045,13045,13045,31323,Myocardial eosinophilic infiltration,HPO,phenotype,PHENOTYPE_13045
13046,13046,13046,13046,13046,13046,13046,13046,31473,Anger,HPO,phenotype,PHENOTYPE_13046
13047,13047,13047,13047,13047,13047,13047,13047,40056,Absent upper eyelashes,HPO,phenotype,PHENOTYPE_13047
13048,13048,13048,13048,13048,13048,13048,13048,1270,Motor delay,HPO,phenotype,PHENOTYPE_13048
13049,13049,13049,13049,13049,13049,13049,13049,8056,Aplasia/Hypoplasia affecting the eye,HPO,phenotype,PHENOTYPE_13049
13050,13050,13050,13050,13050,13050,13050,13050,32987,Elevated bronchoalveolar lavage fluid eosinophil proportion,HPO,phenotype,PHENOTYPE_13050
13051,13051,13051,13051,13051,13051,13051,13051,33676,Posttraumatic stress symptom,HPO,phenotype,PHENOTYPE_13051
13052,13052,13052,13052,13052,13052,13052,13052,5224,Rectal abscess,HPO,phenotype,PHENOTYPE_13052
13053,13053,13053,13053,13053,13053,13053,13053,12501,Abnormal brainstem white matter morphology,HPO,phenotype,PHENOTYPE_13053
13054,13054,13054,13054,13054,13054,13054,13054,9665,Bracket epiphysis of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_13054
13055,13055,13055,13055,13055,13055,13055,13055,12178,Reduced natural killer cell activity,HPO,phenotype,PHENOTYPE_13055
13056,13056,13056,13056,13056,13056,13056,13056,34540,Ameliorated by biotin,HPO,phenotype,PHENOTYPE_13056
13057,13057,13057,13057,13057,13057,13057,13057,100296,Perifascicular muscle fiber atrophy,HPO,phenotype,PHENOTYPE_13057
13058,13058,13058,13058,13058,13058,13058,13058,100626,Chronic hepatic failure,HPO,phenotype,PHENOTYPE_13058
13059,13059,13059,13059,13059,13059,13059,13059,6000235,Inappropriately low concentration of acetoacetate,HPO,phenotype,PHENOTYPE_13059
13060,13060,13060,13060,13060,13060,13060,13060,34198,Second trimester onset,HPO,phenotype,PHENOTYPE_13060
13061,13061,13061,13061,13061,13061,13061,13061,6740,Transitional cell carcinoma of the bladder,HPO,phenotype,PHENOTYPE_13061
13062,13062,13062,13062,13062,13062,13062,13062,5987,Multinodular goiter,HPO,phenotype,PHENOTYPE_13062
13063,13063,13063,13063,13063,13063,13063,13063,34766,Muscle fiber polyglucosan inclusion bodies,HPO,phenotype,PHENOTYPE_13063
13064,13064,13064,13064,13064,13064,13064,13064,2170,Intracranial hemorrhage,HPO,phenotype,PHENOTYPE_13064
13065,13065,13065,13065,13065,13065,13065,13065,11743,Adrenal gland agenesis,HPO,phenotype,PHENOTYPE_13065
13066,13066,13066,13066,13066,13066,13066,13066,123,Nephritis,HPO,phenotype,PHENOTYPE_13066
13067,13067,13067,13067,13067,13067,13067,13067,6000579,Positive oropharangeal infectious agent test,HPO,phenotype,PHENOTYPE_13067
13068,13068,13068,13068,13068,13068,13068,13068,2574,Episodic abdominal pain,HPO,phenotype,PHENOTYPE_13068
13069,13069,13069,13069,13069,13069,13069,13069,267,Cranial asymmetry,HPO,phenotype,PHENOTYPE_13069
13070,13070,13070,13070,13070,13070,13070,13070,5429,Recurrent systemic pyogenic infections,HPO,phenotype,PHENOTYPE_13070
13071,13071,13071,13071,13071,13071,13071,13071,33499,Glomerular basement membrane electron dense deposits,HPO,phenotype,PHENOTYPE_13071
13072,13072,13072,13072,13072,13072,13072,13072,9643,Bullet-shaped distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_13072
13073,13073,13073,13073,13073,13073,13073,13073,8281,Acute hyperammonemia,HPO,phenotype,PHENOTYPE_13073
13074,13074,13074,13074,13074,13074,13074,13074,40266,Proximal upper limb muscle hypertrophy,HPO,phenotype,PHENOTYPE_13074
13075,13075,13075,13075,13075,13075,13075,13075,3470,Paralysis,HPO,phenotype,PHENOTYPE_13075
13076,13076,13076,13076,13076,13076,13076,13076,33100,Increased proteinogenic amino acid level in urine,HPO,phenotype,PHENOTYPE_13076
13077,13077,13077,13077,13077,13077,13077,13077,32288,Polyclonal elevation of circulating IgG,HPO,phenotype,PHENOTYPE_13077
13078,13078,13078,13078,13078,13078,13078,13078,100801,Pancreatic aplasia,HPO,phenotype,PHENOTYPE_13078
13079,13079,13079,13079,13079,13079,13079,13079,6001104,Abnormal vestibulo-spinal reflex,HPO,phenotype,PHENOTYPE_13079
13080,13080,13080,13080,13080,13080,13080,13080,11855,Pharyngeal edema,HPO,phenotype,PHENOTYPE_13080
13081,13081,13081,13081,13081,13081,13081,13081,25406,Asthenia,HPO,phenotype,PHENOTYPE_13081
13082,13082,13082,13082,13082,13082,13082,13082,32651,Elevated CSF chitinase-3-like protein 1 concentration,HPO,phenotype,PHENOTYPE_13082
13083,13083,13083,13083,13083,13083,13083,13083,410228,Increased anti-plant based food allergen IgE antibody level,HPO,phenotype,PHENOTYPE_13083
13084,13084,13084,13084,13084,13084,13084,13084,32068,Increased urinary mucus,HPO,phenotype,PHENOTYPE_13084
13085,13085,13085,13085,13085,13085,13085,13085,5310,Large vessel vasculitis,HPO,phenotype,PHENOTYPE_13085
13086,13086,13086,13086,13086,13086,13086,13086,6000390,Elevated urinary succinylaminoimidazole carboxamide riboside level,HPO,phenotype,PHENOTYPE_13086
13087,13087,13087,13087,13087,13087,13087,13087,9662,Abnormality of the epiphysis of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_13087
13088,13088,13088,13088,13088,13088,13088,13088,20177,"Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells",HPO,phenotype,PHENOTYPE_13088
13089,13089,13089,13089,13089,13089,13089,13089,7293,Anterior sacral meningocele,HPO,phenotype,PHENOTYPE_13089
13090,13090,13090,13090,13090,13090,13090,13090,25742,Elevated urine L-xylulose level,HPO,phenotype,PHENOTYPE_13090
13091,13091,13091,13091,13091,13091,13091,13091,6000705,Thickened fibular cortex,HPO,phenotype,PHENOTYPE_13091
13092,13092,13092,13092,13092,13092,13092,13092,10565,Aplasia/Hypoplasia of the Epiglottis,HPO,phenotype,PHENOTYPE_13092
13093,13093,13093,13093,13093,13093,13093,13093,500140,Decreased circulating hydroxyproline concentration,HPO,phenotype,PHENOTYPE_13093
13094,13094,13094,13094,13094,13094,13094,13094,744,Low frustration tolerance,HPO,phenotype,PHENOTYPE_13094
13095,13095,13095,13095,13095,13095,13095,13095,11127,Perioral eczema,HPO,phenotype,PHENOTYPE_13095
13096,13096,13096,13096,13096,13096,13096,13096,7047,Atrophy of the dentate nucleus,HPO,phenotype,PHENOTYPE_13096
13097,13097,13097,13097,13097,13097,13097,13097,34630,Ameliorated by folinic acid,HPO,phenotype,PHENOTYPE_13097
13098,13098,13098,13098,13098,13098,13098,13098,100314,Cerebral inclusion bodies,HPO,phenotype,PHENOTYPE_13098
13099,13099,13099,13099,13099,13099,13099,13099,10695,Sutural cataract,HPO,phenotype,PHENOTYPE_13099
13100,13100,13100,13100,13100,13100,13100,13100,11647,Postductal coarctation of the aorta,HPO,phenotype,PHENOTYPE_13100
13101,13101,13101,13101,13101,13101,13101,13101,4976,Knee dislocation,HPO,phenotype,PHENOTYPE_13101
13102,13102,13102,13102,13102,13102,13102,13102,31172,Sectoral retinitis pigmentosa,HPO,phenotype,PHENOTYPE_13102
13103,13103,13103,13103,13103,13103,13103,13103,6000780,Olanzapine exposure,HPO,phenotype,PHENOTYPE_13103
13104,13104,13104,13104,13104,13104,13104,13104,32316,Family history,HPO,phenotype,PHENOTYPE_13104
13105,13105,13105,13105,13105,13105,13105,13105,11415,Calcified placenta,HPO,phenotype,PHENOTYPE_13105
13106,13106,13106,13106,13106,13106,13106,13106,32001,Pink urine,HPO,phenotype,PHENOTYPE_13106
13107,13107,13107,13107,13107,13107,13107,13107,7395,Postnatal-onset ichthyosiform erythroderma,HPO,phenotype,PHENOTYPE_13107
13108,13108,13108,13108,13108,13108,13108,13108,5977,Hypochloremic metabolic alkalosis,HPO,phenotype,PHENOTYPE_13108
13109,13109,13109,13109,13109,13109,13109,13109,11161,Focal sensory seizure with olfactory features,HPO,phenotype,PHENOTYPE_13109
13110,13110,13110,13110,13110,13110,13110,13110,32360,Decreased pre-bronchodilator forced expiratory flow 25-75%,HPO,phenotype,PHENOTYPE_13110
13111,13111,13111,13111,13111,13111,13111,13111,30378,Decreased proportion of immature B cells,HPO,phenotype,PHENOTYPE_13111
13112,13112,13112,13112,13112,13112,13112,13112,45035,Decreased urinary copper concentration,HPO,phenotype,PHENOTYPE_13112
13113,13113,13113,13113,13113,13113,13113,13113,4540,"Congenital, generalized hypertrichosis",HPO,phenotype,PHENOTYPE_13113
13114,13114,13114,13114,13114,13114,13114,13114,12131,Abnormal number of erythroid precursors,HPO,phenotype,PHENOTYPE_13114
13115,13115,13115,13115,13115,13115,13115,13115,31624,Moderate myopia,HPO,phenotype,PHENOTYPE_13115
13116,13116,13116,13116,13116,13116,13116,13116,1288,Gait disturbance,HPO,phenotype,PHENOTYPE_13116
13117,13117,13117,13117,13117,13117,13117,13117,32024,Ileal ulcer,HPO,phenotype,PHENOTYPE_13117
13118,13118,13118,13118,13118,13118,13118,13118,10753,Midline defect of mandible,HPO,phenotype,PHENOTYPE_13118
13119,13119,13119,13119,13119,13119,13119,13119,6000619,Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_13119
13120,13120,13120,13120,13120,13120,13120,13120,33880,Arcuate vein intimal mucoid edema,HPO,phenotype,PHENOTYPE_13120
13121,13121,13121,13121,13121,13121,13121,13121,9285,Curved phalanges of the 4th finger,HPO,phenotype,PHENOTYPE_13121
13122,13122,13122,13122,13122,13122,13122,13122,31081,Impaired cortisol response to glucagon stimulation test,HPO,phenotype,PHENOTYPE_13122
13123,13123,13123,13123,13123,13123,13123,13123,32956,Renal tubular herpes simplex virus inclusions,HPO,phenotype,PHENOTYPE_13123
13124,13124,13124,13124,13124,13124,13124,13124,12213,Decreased glomerular filtration rate,HPO,phenotype,PHENOTYPE_13124
13125,13125,13125,13125,13125,13125,13125,13125,20169,Abnormal drug response,HPO,phenotype,PHENOTYPE_13125
13126,13126,13126,13126,13126,13126,13126,13126,20154,Nevus comedonicus,HPO,phenotype,PHENOTYPE_13126
13127,13127,13127,13127,13127,13127,13127,13127,9332,Abnormality of the epiphysis of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_13127
13128,13128,13128,13128,13128,13128,13128,13128,5961,Hypoargininemia,HPO,phenotype,PHENOTYPE_13128
13129,13129,13129,13129,13129,13129,13129,13129,40206,Abnormal circulating neopterin concentration,HPO,phenotype,PHENOTYPE_13129
13130,13130,13130,13130,13130,13130,13130,13130,32802,Focal impaired awareness cognitive seizure with dyscalculia/acalculia,HPO,phenotype,PHENOTYPE_13130
13131,13131,13131,13131,13131,13131,13131,13131,25777,Thought broadcasting,HPO,phenotype,PHENOTYPE_13131
13132,13132,13132,13132,13132,13132,13132,13132,34039,Ventricular couplet,HPO,phenotype,PHENOTYPE_13132
13133,13133,13133,13133,13133,13133,13133,13133,32542,Exacerbated by pregnancy,HPO,phenotype,PHENOTYPE_13133
13134,13134,13134,13134,13134,13134,13134,13134,33569,Extreme axis deviation,HPO,phenotype,PHENOTYPE_13134
13135,13135,13135,13135,13135,13135,13135,13135,6000367,Central thinning of the outer nuclear layer of the retina,HPO,phenotype,PHENOTYPE_13135
13136,13136,13136,13136,13136,13136,13136,13136,11515,Abnormal stereopsis,HPO,phenotype,PHENOTYPE_13136
13137,13137,13137,13137,13137,13137,13137,13137,6000183,Thickened tympanic membrane,HPO,phenotype,PHENOTYPE_13137
13138,13138,13138,13138,13138,13138,13138,13138,41181,Fractured distal phalanx of pedal digit 3,HPO,phenotype,PHENOTYPE_13138
13139,13139,13139,13139,13139,13139,13139,13139,630,Abnormal retinal artery morphology,HPO,phenotype,PHENOTYPE_13139
13140,13140,13140,13140,13140,13140,13140,13140,565,Esotropia,HPO,phenotype,PHENOTYPE_13140
13141,13141,13141,13141,13141,13141,13141,13141,40307,Male sexual dysfunction,HPO,phenotype,PHENOTYPE_13141
13142,13142,13142,13142,13142,13142,13142,13142,5964,Intermittent hypothermia,HPO,phenotype,PHENOTYPE_13142
13143,13143,13143,13143,13143,13143,13143,13143,9905,Thin ear helix,HPO,phenotype,PHENOTYPE_13143
13144,13144,13144,13144,13144,13144,13144,13144,41155,Fractured mandible,HPO,phenotype,PHENOTYPE_13144
13145,13145,13145,13145,13145,13145,13145,13145,6000849,Spinal extradural arachnoid cyst,HPO,phenotype,PHENOTYPE_13145
13146,13146,13146,13146,13146,13146,13146,13146,25093,Peripapillary exudate,HPO,phenotype,PHENOTYPE_13146
13147,13147,13147,13147,13147,13147,13147,13147,8316,Abnormal mitochondria in muscle tissue,HPO,phenotype,PHENOTYPE_13147
13148,13148,13148,13148,13148,13148,13148,13148,30436,Fibrofolliculoma,HPO,phenotype,PHENOTYPE_13148
13149,13149,13149,13149,13149,13149,13149,13149,33920,Renal arteriole intima/media storage material accumulation,HPO,phenotype,PHENOTYPE_13149
13150,13150,13150,13150,13150,13150,13150,13150,40304,Duplication of the sella turcica,HPO,phenotype,PHENOTYPE_13150
13151,13151,13151,13151,13151,13151,13151,13151,30212,Collectionism,HPO,phenotype,PHENOTYPE_13151
13152,13152,13152,13152,13152,13152,13152,13152,34544,Decreased delta-aminolevulinate dehydratase activity,HPO,phenotype,PHENOTYPE_13152
13153,13153,13153,13153,13153,13153,13153,13153,41089,Avulsion fractured tibia,HPO,phenotype,PHENOTYPE_13153
13154,13154,13154,13154,13154,13154,13154,13154,5374,Cellular immunodeficiency,HPO,phenotype,PHENOTYPE_13154
13155,13155,13155,13155,13155,13155,13155,13155,8948,Proximal upper limb amyotrophy,HPO,phenotype,PHENOTYPE_13155
13156,13156,13156,13156,13156,13156,13156,13156,6000213,Elevated circulating Angiotensin-converting enzyme concentration,HPO,phenotype,PHENOTYPE_13156
13157,13157,13157,13157,13157,13157,13157,13157,30667,Peripheral retinal neovascularization,HPO,phenotype,PHENOTYPE_13157
13158,13158,13158,13158,13158,13158,13158,13158,4000102,Triggered by allopurinol,HPO,phenotype,PHENOTYPE_13158
13159,13159,13159,13159,13159,13159,13159,13159,31819,Increased waist to hip ratio,HPO,phenotype,PHENOTYPE_13159
13160,13160,13160,13160,13160,13160,13160,13160,6000008,Hemidiaphragm elevation,HPO,phenotype,PHENOTYPE_13160
13161,13161,13161,13161,13161,13161,13161,13161,30588,Abnormal visual field test,HPO,phenotype,PHENOTYPE_13161
13162,13162,13162,13162,13162,13162,13162,13162,9495,Pseudoepiphysis of the 2nd finger,HPO,phenotype,PHENOTYPE_13162
13163,13163,13163,13163,13163,13163,13163,13163,100944,Sclerosis of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_13163
13164,13164,13164,13164,13164,13164,13164,13164,9594,Retinal hamartoma,HPO,phenotype,PHENOTYPE_13164
13165,13165,13165,13165,13165,13165,13165,13165,8031,Posterior Y-sutural cataract,HPO,phenotype,PHENOTYPE_13165
13166,13166,13166,13166,13166,13166,13166,13166,31426,Decreased circulating beta-C-terminal telopeptide concentration,HPO,phenotype,PHENOTYPE_13166
13167,13167,13167,13167,13167,13167,13167,13167,33124,Increased serum sorbitol concentration,HPO,phenotype,PHENOTYPE_13167
13168,13168,13168,13168,13168,13168,13168,13168,100113,Cone-shaped epiphysis of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_13168
13169,13169,13169,13169,13169,13169,13169,13169,4263,Large capitate bone,HPO,phenotype,PHENOTYPE_13169
13170,13170,13170,13170,13170,13170,13170,13170,6000073,Renal lymphangiectasia,HPO,phenotype,PHENOTYPE_13170
13171,13171,13171,13171,13171,13171,13171,13171,11111,Abnormal immune serum protein physiology,HPO,phenotype,PHENOTYPE_13171
13172,13172,13172,13172,13172,13172,13172,13172,236,Abnormal anterior fontanelle morphology,HPO,phenotype,PHENOTYPE_13172
13173,13173,13173,13173,13173,13173,13173,13173,11526,Abnormality of lens shape,HPO,phenotype,PHENOTYPE_13173
13174,13174,13174,13174,13174,13174,13174,13174,6001052,Tibiotalar synostosis,HPO,phenotype,PHENOTYPE_13174
13175,13175,13175,13175,13175,13175,13175,13175,33403,Testicular ischemia,HPO,phenotype,PHENOTYPE_13175
13176,13176,13176,13176,13176,13176,13176,13176,1430,Abnormal calf musculature morphology,HPO,phenotype,PHENOTYPE_13176
13177,13177,13177,13177,13177,13177,13177,13177,999,Pyoderma,HPO,phenotype,PHENOTYPE_13177
13178,13178,13178,13178,13178,13178,13178,13178,11614,Interrupted aortic arch type C,HPO,phenotype,PHENOTYPE_13178
13179,13179,13179,13179,13179,13179,13179,13179,32098,Hypomanganesemia,HPO,phenotype,PHENOTYPE_13179
13180,13180,13180,13180,13180,13180,13180,13180,2360,Sleep abnormality,HPO,phenotype,PHENOTYPE_13180
13181,13181,13181,13181,13181,13181,13181,13181,100020,Posterior capsular cataract,HPO,phenotype,PHENOTYPE_13181
13182,13182,13182,13182,13182,13182,13182,13182,100599,Bifid penis,HPO,phenotype,PHENOTYPE_13182
13183,13183,13183,13183,13183,13183,13183,13183,8465,Absent vertebra,HPO,phenotype,PHENOTYPE_13183
13184,13184,13184,13184,13184,13184,13184,13184,5113,Aortic arch aneurysm,HPO,phenotype,PHENOTYPE_13184
13185,13185,13185,13185,13185,13185,13185,13185,4717,Axial malrotation of the kidney,HPO,phenotype,PHENOTYPE_13185
13186,13186,13186,13186,13186,13186,13186,13186,10957,Congenital posterior urethral valve,HPO,phenotype,PHENOTYPE_13186
13187,13187,13187,13187,13187,13187,13187,13187,33651,Pulmonary mycetoma,HPO,phenotype,PHENOTYPE_13187
13188,13188,13188,13188,13188,13188,13188,13188,6000424,Kerion,HPO,phenotype,PHENOTYPE_13188
13189,13189,13189,13189,13189,13189,13189,13189,10183,Abnormality of the middle phalanges of the toes,HPO,phenotype,PHENOTYPE_13189
13190,13190,13190,13190,13190,13190,13190,13190,10172,Triangular epiphyses of the toes,HPO,phenotype,PHENOTYPE_13190
13191,13191,13191,13191,13191,13191,13191,13191,6000924,Positive CSF Toxoplasma gondii antibody positivity,HPO,phenotype,PHENOTYPE_13191
13192,13192,13192,13192,13192,13192,13192,13192,9768,Broad phalanges of the hand,HPO,phenotype,PHENOTYPE_13192
13193,13193,13193,13193,13193,13193,13193,13193,1760,Abnormal foot morphology,HPO,phenotype,PHENOTYPE_13193
13194,13194,13194,13194,13194,13194,13194,13194,9103,Aplasia/Hypoplasia involving the pelvis,HPO,phenotype,PHENOTYPE_13194
13195,13195,13195,13195,13195,13195,13195,13195,34080,Anti-U3 RNP antibody positivity,HPO,phenotype,PHENOTYPE_13195
13196,13196,13196,13196,13196,13196,13196,13196,31036,Reduced growth-hormone binding protein level,HPO,phenotype,PHENOTYPE_13196
13197,13197,13197,13197,13197,13197,13197,13197,100872,Abnormality of the plantar skin of foot,HPO,phenotype,PHENOTYPE_13197
13198,13198,13198,13198,13198,13198,13198,13198,1878,Hemolytic anemia,HPO,phenotype,PHENOTYPE_13198
13199,13199,13199,13199,13199,13199,13199,13199,25216,Triggered by heavy meal,HPO,phenotype,PHENOTYPE_13199
13200,13200,13200,13200,13200,13200,13200,13200,100183,Enlarged epiphysis of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_13200
13201,13201,13201,13201,13201,13201,13201,13201,34470,Elevated stool chloride content,HPO,phenotype,PHENOTYPE_13201
13202,13202,13202,13202,13202,13202,13202,13202,6000683,Triggered by overhead motions,HPO,phenotype,PHENOTYPE_13202
13203,13203,13203,13203,13203,13203,13203,13203,4042,Ulnar metaphyseal irregularity,HPO,phenotype,PHENOTYPE_13203
13204,13204,13204,13204,13204,13204,13204,13204,32040,Abnormal ocular adnexa physiology,HPO,phenotype,PHENOTYPE_13204
13205,13205,13205,13205,13205,13205,13205,13205,30824,Mizuo phenomenon,HPO,phenotype,PHENOTYPE_13205
13206,13206,13206,13206,13206,13206,13206,13206,6000815,Amyloid goiter,HPO,phenotype,PHENOTYPE_13206
13207,13207,13207,13207,13207,13207,13207,13207,3388,Easy fatigability,HPO,phenotype,PHENOTYPE_13207
13208,13208,13208,13208,13208,13208,13208,13208,3921,Laterally sloping humeral metaphysis,HPO,phenotype,PHENOTYPE_13208
13209,13209,13209,13209,13209,13209,13209,13209,3159,Hyperoxaluria,HPO,phenotype,PHENOTYPE_13209
13210,13210,13210,13210,13210,13210,13210,13210,34687,Impaired cerebroside sulfate hydrolysis,HPO,phenotype,PHENOTYPE_13210
13211,13211,13211,13211,13211,13211,13211,13211,8554,Cochlear malformation,HPO,phenotype,PHENOTYPE_13211
13212,13212,13212,13212,13212,13212,13212,13212,3134,Abnormality of peripheral nerve conduction,HPO,phenotype,PHENOTYPE_13212
13213,13213,13213,13213,13213,13213,13213,13213,32137,Decreased circulating IgG3 concentration,HPO,phenotype,PHENOTYPE_13213
13214,13214,13214,13214,13214,13214,13214,13214,6668,Twelfth rib hypoplasia,HPO,phenotype,PHENOTYPE_13214
13215,13215,13215,13215,13215,13215,13215,13215,25760,Immobile lump,HPO,phenotype,PHENOTYPE_13215
13216,13216,13216,13216,13216,13216,13216,13216,31766,Convergence excess esotropia,HPO,phenotype,PHENOTYPE_13216
13217,13217,13217,13217,13217,13217,13217,13217,10110,Aplasia of the phalanges of the hallux,HPO,phenotype,PHENOTYPE_13217
13218,13218,13218,13218,13218,13218,13218,13218,10022,Pseudoepiphysis of the 1st metacarpal,HPO,phenotype,PHENOTYPE_13218
13219,13219,13219,13219,13219,13219,13219,13219,6735,Renal cortical adenoma,HPO,phenotype,PHENOTYPE_13219
13220,13220,13220,13220,13220,13220,13220,13220,10056,Abnormality of the epiphyses of the hallux,HPO,phenotype,PHENOTYPE_13220
13221,13221,13221,13221,13221,13221,13221,13221,410136,Aquagenic urticaria,HPO,phenotype,PHENOTYPE_13221
13222,13222,13222,13222,13222,13222,13222,13222,33572,Anti-H1 antibody positivity,HPO,phenotype,PHENOTYPE_13222
13223,13223,13223,13223,13223,13223,13223,13223,31296,Atrial septal hypertrophy,HPO,phenotype,PHENOTYPE_13223
13224,13224,13224,13224,13224,13224,13224,13224,34217,Sonographic non-visualized fetal bladder,HPO,phenotype,PHENOTYPE_13224
13225,13225,13225,13225,13225,13225,13225,13225,30783,Increased circulating interleukin 6 concentration,HPO,phenotype,PHENOTYPE_13225
13226,13226,13226,13226,13226,13226,13226,13226,33486,Abnormal glomerular basement membrane texture,HPO,phenotype,PHENOTYPE_13226
13227,13227,13227,13227,13227,13227,13227,13227,7732,Lacrimal gland hypoplasia,HPO,phenotype,PHENOTYPE_13227
13228,13228,13228,13228,13228,13228,13228,13228,3268,Argininuria,HPO,phenotype,PHENOTYPE_13228
13229,13229,13229,13229,13229,13229,13229,13229,25045,Abnormal brain lactate level by MRS,HPO,phenotype,PHENOTYPE_13229
13230,13230,13230,13230,13230,13230,13230,13230,10359,Aplasia/Hypoplasia of the phalanges of the 3rd toe,HPO,phenotype,PHENOTYPE_13230
13231,13231,13231,13231,13231,13231,13231,13231,10023,Small epiphysis of the 1st metacarpal,HPO,phenotype,PHENOTYPE_13231
13232,13232,13232,13232,13232,13232,13232,13232,33364,Lipoid pneumonia,HPO,phenotype,PHENOTYPE_13232
13233,13233,13233,13233,13233,13233,13233,13233,25776,Thought insertion,HPO,phenotype,PHENOTYPE_13233
13234,13234,13234,13234,13234,13234,13234,13234,6000618,Temporal artery giant cells,HPO,phenotype,PHENOTYPE_13234
13235,13235,13235,13235,13235,13235,13235,13235,6000155,Neuronal intranuclear inclusion bodies,HPO,phenotype,PHENOTYPE_13235
13236,13236,13236,13236,13236,13236,13236,13236,32486,Elevated fecal osmolality,HPO,phenotype,PHENOTYPE_13236
13237,13237,13237,13237,13237,13237,13237,13237,410014,Abnormal ganglion morphology,HPO,phenotype,PHENOTYPE_13237
13238,13238,13238,13238,13238,13238,13238,13238,10579,Cone-shaped epiphysis,HPO,phenotype,PHENOTYPE_13238
13239,13239,13239,13239,13239,13239,13239,13239,32918,Focal impaired awareness orofacial automatism seizure,HPO,phenotype,PHENOTYPE_13239
13240,13240,13240,13240,13240,13240,13240,13240,6008,Unilateral brachydactyly,HPO,phenotype,PHENOTYPE_13240
13241,13241,13241,13241,13241,13241,13241,13241,30518,Congruous homonymous hemianopia,HPO,phenotype,PHENOTYPE_13241
13242,13242,13242,13242,13242,13242,13242,13242,41078,Decreased immunoglobulin level in body fluid,HPO,phenotype,PHENOTYPE_13242
13243,13243,13243,13243,13243,13243,13243,13243,33424,Pulmonary arterial hypertension with lack of acute response to NO challenge,HPO,phenotype,PHENOTYPE_13243
13244,13244,13244,13244,13244,13244,13244,13244,31137,Storage in hepatocytes,HPO,phenotype,PHENOTYPE_13244
13245,13245,13245,13245,13245,13245,13245,13245,7524,Atypical neurofibromatosis,HPO,phenotype,PHENOTYPE_13245
13246,13246,13246,13246,13246,13246,13246,13246,11453,Abnormal incus morphology,HPO,phenotype,PHENOTYPE_13246
13247,13247,13247,13247,13247,13247,13247,13247,34219,Fetal intraventricular hemorrhage with periventricular hemorrhage,HPO,phenotype,PHENOTYPE_13247
13248,13248,13248,13248,13248,13248,13248,13248,11863,Abnormal sternal ossification,HPO,phenotype,PHENOTYPE_13248
13249,13249,13249,13249,13249,13249,13249,13249,9328,Pseudoepiphysis of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_13249
13250,13250,13250,13250,13250,13250,13250,13250,98,Tall stature,HPO,phenotype,PHENOTYPE_13250
13251,13251,13251,13251,13251,13251,13251,13251,34909,Increased erythrocyte coproporphyrin concentration,HPO,phenotype,PHENOTYPE_13251
13252,13252,13252,13252,13252,13252,13252,13252,12809,Narrow nasal base,HPO,phenotype,PHENOTYPE_13252
13253,13253,13253,13253,13253,13253,13253,13253,34390,Decreased CSF glycine concentration,HPO,phenotype,PHENOTYPE_13253
13254,13254,13254,13254,13254,13254,13254,13254,40232,Delayed onset bleeding,HPO,phenotype,PHENOTYPE_13254
13255,13255,13255,13255,13255,13255,13255,13255,2127,Abnormal upper motor neuron morphology,HPO,phenotype,PHENOTYPE_13255
13256,13256,13256,13256,13256,13256,13256,13256,30114,Absent muscle fiber dysferlin,HPO,phenotype,PHENOTYPE_13256
13257,13257,13257,13257,13257,13257,13257,13257,338,Hypomimic face,HPO,phenotype,PHENOTYPE_13257
13258,13258,13258,13258,13258,13258,13258,13258,20050,Anti-granulocyte-macrophage colony stimulating factor antibody positivity,HPO,phenotype,PHENOTYPE_13258
13259,13259,13259,13259,13259,13259,13259,13259,9458,Aplasia of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_13259
13260,13260,13260,13260,13260,13260,13260,13260,25286,Aggravated by activity,HPO,phenotype,PHENOTYPE_13260
13261,13261,13261,13261,13261,13261,13261,13261,2480,Hepatic encephalopathy,HPO,phenotype,PHENOTYPE_13261
13262,13262,13262,13262,13262,13262,13262,13262,4406,"Spontaneous, recurrent epistaxis",HPO,phenotype,PHENOTYPE_13262
13263,13263,13263,13263,13263,13263,13263,13263,41116,Fractured left clavicle,HPO,phenotype,PHENOTYPE_13263
13264,13264,13264,13264,13264,13264,13264,13264,6001040,Small intestinal adenoma,HPO,phenotype,PHENOTYPE_13264
13265,13265,13265,13265,13265,13265,13265,13265,10409,Patchy sclerosis of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_13265
13266,13266,13266,13266,13266,13266,13266,13266,31372,Cold paresis,HPO,phenotype,PHENOTYPE_13266
13267,13267,13267,13267,13267,13267,13267,13267,34362,Dull foveal reflex,HPO,phenotype,PHENOTYPE_13267
13268,13268,13268,13268,13268,13268,13268,13268,31413,Short telomere length,HPO,phenotype,PHENOTYPE_13268
13269,13269,13269,13269,13269,13269,13269,13269,33099,Increased serine family amino acid in urine,HPO,phenotype,PHENOTYPE_13269
13270,13270,13270,13270,13270,13270,13270,13270,9682,Pseudoepiphysis of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_13270
13271,13271,13271,13271,13271,13271,13271,13271,12023,Galactosuria,HPO,phenotype,PHENOTYPE_13271
13272,13272,13272,13272,13272,13272,13272,13272,33238,Podocyte microvillous transformation,HPO,phenotype,PHENOTYPE_13272
13273,13273,13273,13273,13273,13273,13273,13273,11869,Abnormal platelet function,HPO,phenotype,PHENOTYPE_13273
13274,13274,13274,13274,13274,13274,13274,13274,7502,Follicular hyperkeratosis,HPO,phenotype,PHENOTYPE_13274
13275,13275,13275,13275,13275,13275,13275,13275,1623,Breech presentation,HPO,phenotype,PHENOTYPE_13275
13276,13276,13276,13276,13276,13276,13276,13276,41177,Fractured distal phalanx of manual digit 3,HPO,phenotype,PHENOTYPE_13276
13277,13277,13277,13277,13277,13277,13277,13277,6000240,Reduced circulating pyrimidine 5-prime-nucleotidase activity,HPO,phenotype,PHENOTYPE_13277
13278,13278,13278,13278,13278,13278,13278,13278,20205,Tubulointerstitial fungal infiltration,HPO,phenotype,PHENOTYPE_13278
13279,13279,13279,13279,13279,13279,13279,13279,9329,Small epiphysis of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_13279
13280,13280,13280,13280,13280,13280,13280,13280,30777,Modic type II vertebral endplate changes,HPO,phenotype,PHENOTYPE_13280
13281,13281,13281,13281,13281,13281,13281,13281,32822,Neonatal electro-clinical autonomic seizure,HPO,phenotype,PHENOTYPE_13281
13282,13282,13282,13282,13282,13282,13282,13282,30706,Ranula,HPO,phenotype,PHENOTYPE_13282
13283,13283,13283,13283,13283,13283,13283,13283,10970,Blood group antigen abnormality,HPO,phenotype,PHENOTYPE_13283
13284,13284,13284,13284,13284,13284,13284,13284,3856,Upper limb metaphyseal widening,HPO,phenotype,PHENOTYPE_13284
13285,13285,13285,13285,13285,13285,13285,13285,30629,Perifoveal ring of hyperautofluorescence,HPO,phenotype,PHENOTYPE_13285
13286,13286,13286,13286,13286,13286,13286,13286,9484,Deviation of the hand or of fingers of the hand,HPO,phenotype,PHENOTYPE_13286
13287,13287,13287,13287,13287,13287,13287,13287,2788,Recurrent upper respiratory tract infections,HPO,phenotype,PHENOTYPE_13287
13288,13288,13288,13288,13288,13288,13288,13288,34953,Duodenal gastrinoma,HPO,phenotype,PHENOTYPE_13288
13289,13289,13289,13289,13289,13289,13289,13289,11959,Unilateral hypoplasia of pectoralis major muscle,HPO,phenotype,PHENOTYPE_13289
13290,13290,13290,13290,13290,13290,13290,13290,34104,Anti-neutrophil elastase antibody positivity,HPO,phenotype,PHENOTYPE_13290
13291,13291,13291,13291,13291,13291,13291,13291,2002,Deep philtrum,HPO,phenotype,PHENOTYPE_13291
13292,13292,13292,13292,13292,13292,13292,13292,11150,Myoclonic absence seizure,HPO,phenotype,PHENOTYPE_13292
13293,13293,13293,13293,13293,13293,13293,13293,410264,Subglottic hemangioma,HPO,phenotype,PHENOTYPE_13293
13294,13294,13294,13294,13294,13294,13294,13294,25034,Abnormal morphology of erythroid progenitor cell,HPO,phenotype,PHENOTYPE_13294
13295,13295,13295,13295,13295,13295,13295,13295,31814,Palilalia,HPO,phenotype,PHENOTYPE_13295
13296,13296,13296,13296,13296,13296,13296,13296,6000703,Elevated circulating 3-hydroxyanthranilic acid concentration,HPO,phenotype,PHENOTYPE_13296
13297,13297,13297,13297,13297,13297,13297,13297,20042,Double depressor palsy,HPO,phenotype,PHENOTYPE_13297
13298,13298,13298,13298,13298,13298,13298,13298,6001119,Purulent drainage from skin,HPO,phenotype,PHENOTYPE_13298
13299,13299,13299,13299,13299,13299,13299,13299,31653,Abnormal heart valve physiology,HPO,phenotype,PHENOTYPE_13299
13300,13300,13300,13300,13300,13300,13300,13300,11454,Abnormal malleus morphology,HPO,phenotype,PHENOTYPE_13300
13301,13301,13301,13301,13301,13301,13301,13301,34450,Decreased phytanic acid:pristanic acid ratio,HPO,phenotype,PHENOTYPE_13301
13302,13302,13302,13302,13302,13302,13302,13302,34787,Accumulation of lipid droplets in small-bowel enterocytes,HPO,phenotype,PHENOTYPE_13302
13303,13303,13303,13303,13303,13303,13303,13303,32530,Decreased tissue succinic semialdehyde dehydrogenase activity,HPO,phenotype,PHENOTYPE_13303
13304,13304,13304,13304,13304,13304,13304,13304,11593,Left aortic arch with retroesophageal diverticulum of Kommerell,HPO,phenotype,PHENOTYPE_13304
13305,13305,13305,13305,13305,13305,13305,13305,34648,Elevated urine fumaric acid level,HPO,phenotype,PHENOTYPE_13305
13306,13306,13306,13306,13306,13306,13306,13306,34393,Elbow extension contracture,HPO,phenotype,PHENOTYPE_13306
13307,13307,13307,13307,13307,13307,13307,13307,6000498,Anti-factor XIII antibody positivity,HPO,phenotype,PHENOTYPE_13307
13308,13308,13308,13308,13308,13308,13308,13308,5593,"Macular hypopigmented whorls, streaks, and patches",HPO,phenotype,PHENOTYPE_13308
13309,13309,13309,13309,13309,13309,13309,13309,20172,Adverse drug response,HPO,phenotype,PHENOTYPE_13309
13310,13310,13310,13310,13310,13310,13310,13310,31979,Abnormal urine carbohydrate level,HPO,phenotype,PHENOTYPE_13310
13311,13311,13311,13311,13311,13311,13311,13311,8730,"Female external genitalia in individual with 46,XY karyotype",HPO,phenotype,PHENOTYPE_13311
13312,13312,13312,13312,13312,13312,13312,13312,1128,Trichiasis,HPO,phenotype,PHENOTYPE_13312
13313,13313,13313,13313,13313,13313,13313,13313,4438,Hyperostosis frontalis interna,HPO,phenotype,PHENOTYPE_13313
13314,13314,13314,13314,13314,13314,13314,13314,10371,Aplasia/Hypoplasia of the phalanges of the 4th toe,HPO,phenotype,PHENOTYPE_13314
13315,13315,13315,13315,13315,13315,13315,13315,6042,Y-shaped metacarpals,HPO,phenotype,PHENOTYPE_13315
13316,13316,13316,13316,13316,13316,13316,13316,2372,Normal interictal EEG,HPO,phenotype,PHENOTYPE_13316
13317,13317,13317,13317,13317,13317,13317,13317,10875,Chaddock reflex,HPO,phenotype,PHENOTYPE_13317
13318,13318,13318,13318,13318,13318,13318,13318,9460,Aplasia of the 3rd finger,HPO,phenotype,PHENOTYPE_13318
13319,13319,13319,13319,13319,13319,13319,13319,11597,Right aortic arch with left descending aorta and left ductus arteriosus,HPO,phenotype,PHENOTYPE_13319
13320,13320,13320,13320,13320,13320,13320,13320,8986,Agenesis of the diaphragm,HPO,phenotype,PHENOTYPE_13320
13321,13321,13321,13321,13321,13321,13321,13321,5201000,Incomplete unilateral cleft lip,HPO,phenotype,PHENOTYPE_13321
13322,13322,13322,13322,13322,13322,13322,13322,6268,Fluctuating splenomegaly,HPO,phenotype,PHENOTYPE_13322
13323,13323,13323,13323,13323,13323,13323,13323,3031,Ulnar bowing,HPO,phenotype,PHENOTYPE_13323
13324,13324,13324,13324,13324,13324,13324,13324,8430,Anterior beaking of lumbar vertebrae,HPO,phenotype,PHENOTYPE_13324
13325,13325,13325,13325,13325,13325,13325,13325,7922,Hypermyelinated retinal nerve fibers,HPO,phenotype,PHENOTYPE_13325
13326,13326,13326,13326,13326,13326,13326,13326,5327,Loss of facial expression,HPO,phenotype,PHENOTYPE_13326
13327,13327,13327,13327,13327,13327,13327,13327,430088,Anti-measles antibody positivity,HPO,phenotype,PHENOTYPE_13327
13328,13328,13328,13328,13328,13328,13328,13328,25786,Intraosseous lipoma,HPO,phenotype,PHENOTYPE_13328
13329,13329,13329,13329,13329,13329,13329,13329,30007,EMG: positive sharp waves,HPO,phenotype,PHENOTYPE_13329
13330,13330,13330,13330,13330,13330,13330,13330,31294,Hypoplastic right atrium,HPO,phenotype,PHENOTYPE_13330
13331,13331,13331,13331,13331,13331,13331,13331,12527,Abnormal alpha granule content,HPO,phenotype,PHENOTYPE_13331
13332,13332,13332,13332,13332,13332,13332,13332,8072,Maternal virilization in pregnancy,HPO,phenotype,PHENOTYPE_13332
13333,13333,13333,13333,13333,13333,13333,13333,6683,Abnormal ventricular filling,HPO,phenotype,PHENOTYPE_13333
13334,13334,13334,13334,13334,13334,13334,13334,6147,Progressive fusion 2nd-5th pip joints,HPO,phenotype,PHENOTYPE_13334
13335,13335,13335,13335,13335,13335,13335,13335,5344,Abnormal carotid artery morphology,HPO,phenotype,PHENOTYPE_13335
13336,13336,13336,13336,13336,13336,13336,13336,10907,Abnormal circulating proline concentration,HPO,phenotype,PHENOTYPE_13336
13337,13337,13337,13337,13337,13337,13337,13337,9880,Broad distal phalanges of all fingers,HPO,phenotype,PHENOTYPE_13337
13338,13338,13338,13338,13338,13338,13338,13338,2304,Akinesia,HPO,phenotype,PHENOTYPE_13338
13339,13339,13339,13339,13339,13339,13339,13339,33575,Anti-H2A antibody positivity,HPO,phenotype,PHENOTYPE_13339
13340,13340,13340,13340,13340,13340,13340,13340,25338,Circumlimbal hyperemia,HPO,phenotype,PHENOTYPE_13340
13341,13341,13341,13341,13341,13341,13341,13341,25683,Abnormal amyloid beta 42 peptide CSF concentration,HPO,phenotype,PHENOTYPE_13341
13342,13342,13342,13342,13342,13342,13342,13342,32550,Howell-Jolly bodies,HPO,phenotype,PHENOTYPE_13342
13343,13343,13343,13343,13343,13343,13343,13343,32131,Cervical dysplasia,HPO,phenotype,PHENOTYPE_13343
13344,13344,13344,13344,13344,13344,13344,13344,893,Bulging of the costochondral junction,HPO,phenotype,PHENOTYPE_13344
13345,13345,13345,13345,13345,13345,13345,13345,34153,Anti-cytosolic-5-nucleotidase-1A antibody positivity,HPO,phenotype,PHENOTYPE_13345
13346,13346,13346,13346,13346,13346,13346,13346,9037,Segmental spinal muscular atrophy,HPO,phenotype,PHENOTYPE_13346
13347,13347,13347,13347,13347,13347,13347,13347,6000895,Breast apocrine adenoma,HPO,phenotype,PHENOTYPE_13347
13348,13348,13348,13348,13348,13348,13348,13348,12561,Unicuspid aortic valve,HPO,phenotype,PHENOTYPE_13348
13349,13349,13349,13349,13349,13349,13349,13349,34034,Differential cyanosis,HPO,phenotype,PHENOTYPE_13349
13350,13350,13350,13350,13350,13350,13350,13350,100159,Cone-shaped epiphysis of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_13350
13351,13351,13351,13351,13351,13351,13351,13351,34444,Abnormal gamma-glutamyltransferase level,HPO,phenotype,PHENOTYPE_13351
13352,13352,13352,13352,13352,13352,13352,13352,9525,Bracket epiphysis of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_13352
13353,13353,13353,13353,13353,13353,13353,13353,1522,Death in infancy,HPO,phenotype,PHENOTYPE_13353
13354,13354,13354,13354,13354,13354,13354,13354,100823,Genital hernia,HPO,phenotype,PHENOTYPE_13354
13355,13355,13355,13355,13355,13355,13355,13355,3924,Stippled calcification of humeral metaphysis,HPO,phenotype,PHENOTYPE_13355
13356,13356,13356,13356,13356,13356,13356,13356,20286,Increased lymph node lymphocyte cytoplasm,HPO,phenotype,PHENOTYPE_13356
13357,13357,13357,13357,13357,13357,13357,13357,30520,Binasal hemianopia,HPO,phenotype,PHENOTYPE_13357
13358,13358,13358,13358,13358,13358,13358,13358,2600,Hyporeflexia of lower limbs,HPO,phenotype,PHENOTYPE_13358
13359,13359,13359,13359,13359,13359,13359,13359,5156,Hypoplastic left atrium,HPO,phenotype,PHENOTYPE_13359
13360,13360,13360,13360,13360,13360,13360,13360,100476,Symphalangism affecting the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_13360
13361,13361,13361,13361,13361,13361,13361,13361,30792,Jaw neoplasm,HPO,phenotype,PHENOTYPE_13361
13362,13362,13362,13362,13362,13362,13362,13362,25568,Abnormal morphology of the choroidal vasculature,HPO,phenotype,PHENOTYPE_13362
13363,13363,13363,13363,13363,13363,13363,13363,32707,Focal aware cognitive seizure with dyslexia/alexia,HPO,phenotype,PHENOTYPE_13363
13364,13364,13364,13364,13364,13364,13364,13364,31930,Neurocytic rosette,HPO,phenotype,PHENOTYPE_13364
13365,13365,13365,13365,13365,13365,13365,13365,430046,Small joint hypermobilty,HPO,phenotype,PHENOTYPE_13365
13366,13366,13366,13366,13366,13366,13366,13366,100727,Histiocytosis,HPO,phenotype,PHENOTYPE_13366
13367,13367,13367,13367,13367,13367,13367,13367,7517,Palmoplantar cutis laxa,HPO,phenotype,PHENOTYPE_13367
13368,13368,13368,13368,13368,13368,13368,13368,34483,Bone marrow vacuolated lymphocytes,HPO,phenotype,PHENOTYPE_13368
13369,13369,13369,13369,13369,13369,13369,13369,25222,Triggered by sleep deprivation,HPO,phenotype,PHENOTYPE_13369
13370,13370,13370,13370,13370,13370,13370,13370,34982,Perianal anethesia,HPO,phenotype,PHENOTYPE_13370
13371,13371,13371,13371,13371,13371,13371,13371,6000934,Glenoid dysplasia,HPO,phenotype,PHENOTYPE_13371
13372,13372,13372,13372,13372,13372,13372,13372,30627,Foveal hyporeflective spaces on macular OCT,HPO,phenotype,PHENOTYPE_13372
13373,13373,13373,13373,13373,13373,13373,13373,8216,Adrenal gland dysgenesis,HPO,phenotype,PHENOTYPE_13373
13374,13374,13374,13374,13374,13374,13374,13374,100669,Abnormal pigmentation of the oral mucosa,HPO,phenotype,PHENOTYPE_13374
13375,13375,13375,13375,13375,13375,13375,13375,10646,Cervical spine instability,HPO,phenotype,PHENOTYPE_13375
13376,13376,13376,13376,13376,13376,13376,13376,12415,Abnormal blood gas level,HPO,phenotype,PHENOTYPE_13376
13377,13377,13377,13377,13377,13377,13377,13377,40130,Abnormal circulating iron concentration,HPO,phenotype,PHENOTYPE_13377
13378,13378,13378,13378,13378,13378,13378,13378,12259,Absent inner and outer dynein arms,HPO,phenotype,PHENOTYPE_13378
13379,13379,13379,13379,13379,13379,13379,13379,34325,Common carotid artery aneurysm,HPO,phenotype,PHENOTYPE_13379
13380,13380,13380,13380,13380,13380,13380,13380,100334,Unilateral cleft palate,HPO,phenotype,PHENOTYPE_13380
13381,13381,13381,13381,13381,13381,13381,13381,11020,Abnormality of mucopolysaccharide metabolism,HPO,phenotype,PHENOTYPE_13381
13382,13382,13382,13382,13382,13382,13382,13382,658,Eyelid apraxia,HPO,phenotype,PHENOTYPE_13382
13383,13383,13383,13383,13383,13383,13383,13383,10158,Stippling of the epiphysis of the 1st metatarsal,HPO,phenotype,PHENOTYPE_13383
13384,13384,13384,13384,13384,13384,13384,13384,34593,Elevated circulating dihydrouracil concentration,HPO,phenotype,PHENOTYPE_13384
13385,13385,13385,13385,13385,13385,13385,13385,430104,Abnormal superficial temporal artery morphology,HPO,phenotype,PHENOTYPE_13385
13386,13386,13386,13386,13386,13386,13386,13386,751,Personality changes,HPO,phenotype,PHENOTYPE_13386
13387,13387,13387,13387,13387,13387,13387,13387,4235,Comma-shaped carpal bones,HPO,phenotype,PHENOTYPE_13387
13388,13388,13388,13388,13388,13388,13388,13388,20104,Unusual protozoan infection,HPO,phenotype,PHENOTYPE_13388
13389,13389,13389,13389,13389,13389,13389,13389,30093,Abnormal muscle fiber laminin beta 1,HPO,phenotype,PHENOTYPE_13389
13390,13390,13390,13390,13390,13390,13390,13390,32716,Focal impaired awareness non-motor seizure,HPO,phenotype,PHENOTYPE_13390
13391,13391,13391,13391,13391,13391,13391,13391,9397,Fragmentation of the epiphyses of the 4th finger,HPO,phenotype,PHENOTYPE_13391
13392,13392,13392,13392,13392,13392,13392,13392,10113,Absent hallux epiphysis,HPO,phenotype,PHENOTYPE_13392
13393,13393,13393,13393,13393,13393,13393,13393,25227,Triggered by excitement,HPO,phenotype,PHENOTYPE_13393
13394,13394,13394,13394,13394,13394,13394,13394,25697,Fibrin casts,HPO,phenotype,PHENOTYPE_13394
13395,13395,13395,13395,13395,13395,13395,13395,5200059,Sensory hyposensitivity unexplained by sensory deficit,HPO,phenotype,PHENOTYPE_13395
13396,13396,13396,13396,13396,13396,13396,13396,6000598,Elevated urinary succinylacetone level,HPO,phenotype,PHENOTYPE_13396
13397,13397,13397,13397,13397,13397,13397,13397,3521,Disproportionate short-trunk short stature,HPO,phenotype,PHENOTYPE_13397
13398,13398,13398,13398,13398,13398,13398,13398,33406,Elevated circulating phosphoethanolamine concentration,HPO,phenotype,PHENOTYPE_13398
13399,13399,13399,13399,13399,13399,13399,13399,6000409,Pancreatic mass,HPO,phenotype,PHENOTYPE_13399
13400,13400,13400,13400,13400,13400,13400,13400,410031,Submucous cleft of soft and hard palate,HPO,phenotype,PHENOTYPE_13400
13401,13401,13401,13401,13401,13401,13401,13401,840,Adrenogenital syndrome,HPO,phenotype,PHENOTYPE_13401
13402,13402,13402,13402,13402,13402,13402,13402,10848,EEG with spike-wave complexes (2.5-3.5 Hz),HPO,phenotype,PHENOTYPE_13402
13403,13403,13403,13403,13403,13403,13403,13403,40252,Abnormal size of the clitoris,HPO,phenotype,PHENOTYPE_13403
13404,13404,13404,13404,13404,13404,13404,13404,25566,Anterior chamber cells grade 4+,HPO,phenotype,PHENOTYPE_13404
13405,13405,13405,13405,13405,13405,13405,13405,34501,Widened mediastinum,HPO,phenotype,PHENOTYPE_13405
13406,13406,13406,13406,13406,13406,13406,13406,25722,Cerebral infarct,HPO,phenotype,PHENOTYPE_13406
13407,13407,13407,13407,13407,13407,13407,13407,33730,Membranous lupus nephritis,HPO,phenotype,PHENOTYPE_13407
13408,13408,13408,13408,13408,13408,13408,13408,3781,Excessive salivation,HPO,phenotype,PHENOTYPE_13408
13409,13409,13409,13409,13409,13409,13409,13409,5200067,Visual sensory seeking,HPO,phenotype,PHENOTYPE_13409
13410,13410,13410,13410,13410,13410,13410,13410,11552,Ambiguous atrioventricular connection,HPO,phenotype,PHENOTYPE_13410
13411,13411,13411,13411,13411,13411,13411,13411,6000346,Anti-polio virus antibody positivity,HPO,phenotype,PHENOTYPE_13411
13412,13412,13412,13412,13412,13412,13412,13412,2949,Fused cervical vertebrae,HPO,phenotype,PHENOTYPE_13412
13413,13413,13413,13413,13413,13413,13413,13413,200149,CSF lymphocytic pleiocytosis,HPO,phenotype,PHENOTYPE_13413
13414,13414,13414,13414,13414,13414,13414,13414,11796,Perilobar nephroblastomatosis,HPO,phenotype,PHENOTYPE_13414
13415,13415,13415,13415,13415,13415,13415,13415,32864,Focal aware sensory seizure with auditory features,HPO,phenotype,PHENOTYPE_13415
13416,13416,13416,13416,13416,13416,13416,13416,34920,Nasal mucosa vasculitis,HPO,phenotype,PHENOTYPE_13416
13417,13417,13417,13417,13417,13417,13417,13417,3935,Wide humeral diaphysis,HPO,phenotype,PHENOTYPE_13417
13418,13418,13418,13418,13418,13418,13418,13418,6638,Midclavicular aplasia,HPO,phenotype,PHENOTYPE_13418
13419,13419,13419,13419,13419,13419,13419,13419,6000092,Retinoid exposure,HPO,phenotype,PHENOTYPE_13419
13420,13420,13420,13420,13420,13420,13420,13420,6000678,Myositis-specific autoantibody positivity,HPO,phenotype,PHENOTYPE_13420
13421,13421,13421,13421,13421,13421,13421,13421,32521,Self hugging,HPO,phenotype,PHENOTYPE_13421
13422,13422,13422,13422,13422,13422,13422,13422,100580,Barrett esophagus,HPO,phenotype,PHENOTYPE_13422
13423,13423,13423,13423,13423,13423,13423,13423,9155,Cone-shaped epiphysis of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_13423
13424,13424,13424,13424,13424,13424,13424,13424,2795,Abnormal respiratory system physiology,HPO,phenotype,PHENOTYPE_13424
13425,13425,13425,13425,13425,13425,13425,13425,32404,Testicular mass,HPO,phenotype,PHENOTYPE_13425
13426,13426,13426,13426,13426,13426,13426,13426,2668,Paraganglioma,HPO,phenotype,PHENOTYPE_13426
13427,13427,13427,13427,13427,13427,13427,13427,692,Tooth malposition,HPO,phenotype,PHENOTYPE_13427
13428,13428,13428,13428,13428,13428,13428,13428,725,Psychotic episodes,HPO,phenotype,PHENOTYPE_13428
13429,13429,13429,13429,13429,13429,13429,13429,2398,Degeneration of anterior horn cells,HPO,phenotype,PHENOTYPE_13429
13430,13430,13430,13430,13430,13430,13430,13430,6099,Metacarpophalangeal joint hyperextensibility,HPO,phenotype,PHENOTYPE_13430
13431,13431,13431,13431,13431,13431,13431,13431,2853,Increased proportion of HLA DR+ T cells,HPO,phenotype,PHENOTYPE_13431
13432,13432,13432,13432,13432,13432,13432,13432,309,Abnormal midface morphology,HPO,phenotype,PHENOTYPE_13432
13433,13433,13433,13433,13433,13433,13433,13433,31750,Lateral rectus muscle weakness,HPO,phenotype,PHENOTYPE_13433
13434,13434,13434,13434,13434,13434,13434,13434,20180,Elevated haptoglobin level,HPO,phenotype,PHENOTYPE_13434
13435,13435,13435,13435,13435,13435,13435,13435,31150,Vitreomacular adhesion,HPO,phenotype,PHENOTYPE_13435
13436,13436,13436,13436,13436,13436,13436,13436,430006,Ectopic cilia of eyelid,HPO,phenotype,PHENOTYPE_13436
13437,13437,13437,13437,13437,13437,13437,13437,30183,Impaired visually enhanced vestibulo-ocular reflex,HPO,phenotype,PHENOTYPE_13437
13438,13438,13438,13438,13438,13438,13438,13438,6000422,Tympanic membrane bulla,HPO,phenotype,PHENOTYPE_13438
13439,13439,13439,13439,13439,13439,13439,13439,34457,Hawkinsinuria,HPO,phenotype,PHENOTYPE_13439
13440,13440,13440,13440,13440,13440,13440,13440,6000429,Renal tubular karyomegaly,HPO,phenotype,PHENOTYPE_13440
13441,13441,13441,13441,13441,13441,13441,13441,500016,Abnormal cardiac MRI,HPO,phenotype,PHENOTYPE_13441
13442,13442,13442,13442,13442,13442,13442,13442,11706,Second degree atrioventricular block,HPO,phenotype,PHENOTYPE_13442
13443,13443,13443,13443,13443,13443,13443,13443,8969,Leg muscle stiffness,HPO,phenotype,PHENOTYPE_13443
13444,13444,13444,13444,13444,13444,13444,13444,32539,Joint extensor surface localization,HPO,phenotype,PHENOTYPE_13444
13445,13445,13445,13445,13445,13445,13445,13445,33788,Cementum overgrowth,HPO,phenotype,PHENOTYPE_13445
13446,13446,13446,13446,13446,13446,13446,13446,11186,Focal epileptiform discharges with limited propagation to contralateral hemisphere,HPO,phenotype,PHENOTYPE_13446
13447,13447,13447,13447,13447,13447,13447,13447,31263,Abnormal renal corpuscle morphology,HPO,phenotype,PHENOTYPE_13447
13448,13448,13448,13448,13448,13448,13448,13448,6000485,Elevated circulating beta chorionic gonadotropin concentration,HPO,phenotype,PHENOTYPE_13448
13449,13449,13449,13449,13449,13449,13449,13449,4891,Recurrent infections due to aspiration,HPO,phenotype,PHENOTYPE_13449
13450,13450,13450,13450,13450,13450,13450,13450,3809,Reduced intrathoracic adipose tissue,HPO,phenotype,PHENOTYPE_13450
13451,13451,13451,13451,13451,13451,13451,13451,10179,Symphalangism affecting the phalanges of the toes,HPO,phenotype,PHENOTYPE_13451
13452,13452,13452,13452,13452,13452,13452,13452,5200208,Illusions due to affect,HPO,phenotype,PHENOTYPE_13452
13453,13453,13453,13453,13453,13453,13453,13453,5200127,Aggression toward non-caregivers,HPO,phenotype,PHENOTYPE_13453
13454,13454,13454,13454,13454,13454,13454,13454,11677,Tetralogy of Fallot with atrioventricular canal defect,HPO,phenotype,PHENOTYPE_13454
13455,13455,13455,13455,13455,13455,13455,13455,12446,Decreased CSF 5-methyltetrahydrofolate concentration,HPO,phenotype,PHENOTYPE_13455
13456,13456,13456,13456,13456,13456,13456,13456,31635,Anomalous origin of the left common carotid artery from the brachiocephalic artery,HPO,phenotype,PHENOTYPE_13456
13457,13457,13457,13457,13457,13457,13457,13457,4845,Acute monocytic leukemia,HPO,phenotype,PHENOTYPE_13457
13458,13458,13458,13458,13458,13458,13458,13458,5506,Chronic myelogenous leukemia,HPO,phenotype,PHENOTYPE_13458
13459,13459,13459,13459,13459,13459,13459,13459,40262,Glue ear,HPO,phenotype,PHENOTYPE_13459
13460,13460,13460,13460,13460,13460,13460,13460,31630,Abnormal subpleural morphology,HPO,phenotype,PHENOTYPE_13460
13461,13461,13461,13461,13461,13461,13461,13461,34836,Cystic nephroma,HPO,phenotype,PHENOTYPE_13461
13462,13462,13462,13462,13462,13462,13462,13462,100849,Neoplasm of the scrotum,HPO,phenotype,PHENOTYPE_13462
13463,13463,13463,13463,13463,13463,13463,13463,11887,Choroid hemorrhage,HPO,phenotype,PHENOTYPE_13463
13464,13464,13464,13464,13464,13464,13464,13464,41069,Chronic (near) absent circulating IgG1,HPO,phenotype,PHENOTYPE_13464
13465,13465,13465,13465,13465,13465,13465,13465,5389,Depletion of components of the alternative complement pathway,HPO,phenotype,PHENOTYPE_13465
13466,13466,13466,13466,13466,13466,13466,13466,3725,Firm muscles,HPO,phenotype,PHENOTYPE_13466
13467,13467,13467,13467,13467,13467,13467,13467,34004,Parosmia,HPO,phenotype,PHENOTYPE_13467
13468,13468,13468,13468,13468,13468,13468,13468,33917,Arcuate intimal/medial venulitis,HPO,phenotype,PHENOTYPE_13468
13469,13469,13469,13469,13469,13469,13469,13469,200161,Agenesis of mandibular incisor,HPO,phenotype,PHENOTYPE_13469
13470,13470,13470,13470,13470,13470,13470,13470,1075,Atrophic scars,HPO,phenotype,PHENOTYPE_13470
13471,13471,13471,13471,13471,13471,13471,13471,33864,Abnormal medullary peritubular capillary morphology,HPO,phenotype,PHENOTYPE_13471
13472,13472,13472,13472,13472,13472,13472,13472,40009,Hyperparakeratosis,HPO,phenotype,PHENOTYPE_13472
13473,13473,13473,13473,13473,13473,13473,13473,31741,Inferior oblique muscle underaction,HPO,phenotype,PHENOTYPE_13473
13474,13474,13474,13474,13474,13474,13474,13474,31884,Abnormal CSF glucose concentration,HPO,phenotype,PHENOTYPE_13474
13475,13475,13475,13475,13475,13475,13475,13475,12315,Histiocytoma,HPO,phenotype,PHENOTYPE_13475
13476,13476,13476,13476,13476,13476,13476,13476,1891,Iron deficiency anemia,HPO,phenotype,PHENOTYPE_13476
13477,13477,13477,13477,13477,13477,13477,13477,31120,Bicuspid aortic valve with right-noncoronary cusp fusion,HPO,phenotype,PHENOTYPE_13477
13478,13478,13478,13478,13478,13478,13478,13478,11446,Abnormality of mental function,HPO,phenotype,PHENOTYPE_13478
13479,13479,13479,13479,13479,13479,13479,13479,6381,Rudimentary fibula,HPO,phenotype,PHENOTYPE_13479
13480,13480,13480,13480,13480,13480,13480,13480,6000488,Reduced circulating fibroblast growth factor 23 concentration,HPO,phenotype,PHENOTYPE_13480
13481,13481,13481,13481,13481,13481,13481,13481,10407,Curved middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_13481
13482,13482,13482,13482,13482,13482,13482,13482,100505,Decreased circulating vitamin B5 concentration,HPO,phenotype,PHENOTYPE_13482
13483,13483,13483,13483,13483,13483,13483,13483,500217,Increased CSF aspartate concentration,HPO,phenotype,PHENOTYPE_13483
13484,13484,13484,13484,13484,13484,13484,13484,32602,Prominent nucleoli of renal tubular epithelial cells,HPO,phenotype,PHENOTYPE_13484
13485,13485,13485,13485,13485,13485,13485,13485,34720,Self-healing squamous epithelioma,HPO,phenotype,PHENOTYPE_13485
13486,13486,13486,13486,13486,13486,13486,13486,6000879,Anti-regulator of G protein signaling 8 antibody positivity,HPO,phenotype,PHENOTYPE_13486
13487,13487,13487,13487,13487,13487,13487,13487,25639,Increased urinary zinc level,HPO,phenotype,PHENOTYPE_13487
13488,13488,13488,13488,13488,13488,13488,13488,12413,Notched primary central incisor,HPO,phenotype,PHENOTYPE_13488
13489,13489,13489,13489,13489,13489,13489,13489,25537,Plantar edema,HPO,phenotype,PHENOTYPE_13489
13490,13490,13490,13490,13490,13490,13490,13490,187,Broad alveolar ridges,HPO,phenotype,PHENOTYPE_13490
13491,13491,13491,13491,13491,13491,13491,13491,40061,Osteosclerosis of the radius,HPO,phenotype,PHENOTYPE_13491
13492,13492,13492,13492,13492,13492,13492,13492,30179,Abnormal peripheral action potential amplitude,HPO,phenotype,PHENOTYPE_13492
13493,13493,13493,13493,13493,13493,13493,13493,100941,Sclerosis of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_13493
13494,13494,13494,13494,13494,13494,13494,13494,9411,Bracket epiphyses of the 3rd finger,HPO,phenotype,PHENOTYPE_13494
13495,13495,13495,13495,13495,13495,13495,13495,40159,Abnormal spaced incisors,HPO,phenotype,PHENOTYPE_13495
13496,13496,13496,13496,13496,13496,13496,13496,31672,Reverse typical atrial flutter,HPO,phenotype,PHENOTYPE_13496
13497,13497,13497,13497,13497,13497,13497,13497,33044,Motor regression,HPO,phenotype,PHENOTYPE_13497
13498,13498,13498,13498,13498,13498,13498,13498,4930,Abnormality of the pulmonary vasculature,HPO,phenotype,PHENOTYPE_13498
13499,13499,13499,13499,13499,13499,13499,13499,6000220,Pharyngeal mass,HPO,phenotype,PHENOTYPE_13499
13500,13500,13500,13500,13500,13500,13500,13500,100566,Amyelia,HPO,phenotype,PHENOTYPE_13500
13501,13501,13501,13501,13501,13501,13501,13501,10774,Cor triatriatum,HPO,phenotype,PHENOTYPE_13501
13502,13502,13502,13502,13502,13502,13502,13502,32398,Dysgyria,HPO,phenotype,PHENOTYPE_13502
13503,13503,13503,13503,13503,13503,13503,13503,31918,Ovarian sex cord-stromal tumor,HPO,phenotype,PHENOTYPE_13503
13504,13504,13504,13504,13504,13504,13504,13504,3309,Ovoid thoracolumbar vertebrae,HPO,phenotype,PHENOTYPE_13504
13505,13505,13505,13505,13505,13505,13505,13505,11051,Agenesis of premolar,HPO,phenotype,PHENOTYPE_13505
13506,13506,13506,13506,13506,13506,13506,13506,33661,Air crescent,HPO,phenotype,PHENOTYPE_13506
13507,13507,13507,13507,13507,13507,13507,13507,32308,Increased circulating procalcitonin concentration,HPO,phenotype,PHENOTYPE_13507
13508,13508,13508,13508,13508,13508,13508,13508,31375,Refractory,HPO,phenotype,PHENOTYPE_13508
13509,13509,13509,13509,13509,13509,13509,13509,6439,Radioulnar dislocation,HPO,phenotype,PHENOTYPE_13509
13510,13510,13510,13510,13510,13510,13510,13510,33747,Abnormal exteroceptive sensation,HPO,phenotype,PHENOTYPE_13510
13511,13511,13511,13511,13511,13511,13511,13511,100552,Neoplasm of the tracheobronchial system,HPO,phenotype,PHENOTYPE_13511
13512,13512,13512,13512,13512,13512,13512,13512,9157,Ivory epiphysis of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_13512
13513,13513,13513,13513,13513,13513,13513,13513,30914,Abnormal peristalsis,HPO,phenotype,PHENOTYPE_13513
13514,13514,13514,13514,13514,13514,13514,13514,45052,Abnormality of the brachial nerve plexus,HPO,phenotype,PHENOTYPE_13514
13515,13515,13515,13515,13515,13515,13515,13515,3000025,Abnormality of ciliary ganglion,HPO,phenotype,PHENOTYPE_13515
13516,13516,13516,13516,13516,13516,13516,13516,6000319,Meteorism,HPO,phenotype,PHENOTYPE_13516
13517,13517,13517,13517,13517,13517,13517,13517,410172,Blood xenobiotic,HPO,phenotype,PHENOTYPE_13517
13518,13518,13518,13518,13518,13518,13518,13518,11557,Double inlet to single ventricle of indeterminate morphology,HPO,phenotype,PHENOTYPE_13518
13519,13519,13519,13519,13519,13519,13519,13519,6000012,Mediastinal shift,HPO,phenotype,PHENOTYPE_13519
13520,13520,13520,13520,13520,13520,13520,13520,11267,"Microtia, third degree",HPO,phenotype,PHENOTYPE_13520
13521,13521,13521,13521,13521,13521,13521,13521,6000308,Excessive nocturnal light exposure,HPO,phenotype,PHENOTYPE_13521
13522,13522,13522,13522,13522,13522,13522,13522,12447,Abnormal myelination,HPO,phenotype,PHENOTYPE_13522
13523,13523,13523,13523,13523,13523,13523,13523,41164,Fractured talus,HPO,phenotype,PHENOTYPE_13523
13524,13524,13524,13524,13524,13524,13524,13524,7188,Congenital facial diplegia,HPO,phenotype,PHENOTYPE_13524
13525,13525,13525,13525,13525,13525,13525,13525,977,Soft skin,HPO,phenotype,PHENOTYPE_13525
13526,13526,13526,13526,13526,13526,13526,13526,4688,Irregular tarsal bones,HPO,phenotype,PHENOTYPE_13526
13527,13527,13527,13527,13527,13527,13527,13527,34824,Diffuse pulmonary lymphoid hyperplasia,HPO,phenotype,PHENOTYPE_13527
13528,13528,13528,13528,13528,13528,13528,13528,5240,Esophageal obstruction,HPO,phenotype,PHENOTYPE_13528
13529,13529,13529,13529,13529,13529,13529,13529,12531,Pain,HPO,phenotype,PHENOTYPE_13529
13530,13530,13530,13530,13530,13530,13530,13530,2208,Coarse hair,HPO,phenotype,PHENOTYPE_13530
13531,13531,13531,13531,13531,13531,13531,13531,1409,Portal hypertension,HPO,phenotype,PHENOTYPE_13531
13532,13532,13532,13532,13532,13532,13532,13532,430139,CSF pathogen-specific antibody positivity,HPO,phenotype,PHENOTYPE_13532
13533,13533,13533,13533,13533,13533,13533,13533,34297,Elevated circulating tetracosanoic acid concentration,HPO,phenotype,PHENOTYPE_13533
13534,13534,13534,13534,13534,13534,13534,13534,100211,Stippling of the epiphysis of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_13534
13535,13535,13535,13535,13535,13535,13535,13535,20123,Tympanosclerosis,HPO,phenotype,PHENOTYPE_13535
13536,13536,13536,13536,13536,13536,13536,13536,33251,Elevated residual volume,HPO,phenotype,PHENOTYPE_13536
13537,13537,13537,13537,13537,13537,13537,13537,6180,Crowded carpal bones,HPO,phenotype,PHENOTYPE_13537
13538,13538,13538,13538,13538,13538,13538,13538,40229,Decreased level of thrombomodulin,HPO,phenotype,PHENOTYPE_13538
13539,13539,13539,13539,13539,13539,13539,13539,10459,True hermaphroditism,HPO,phenotype,PHENOTYPE_13539
13540,13540,13540,13540,13540,13540,13540,13540,33399,Persistent fever,HPO,phenotype,PHENOTYPE_13540
13541,13541,13541,13541,13541,13541,13541,13541,7470,Periarticular subcutaneous nodules,HPO,phenotype,PHENOTYPE_13541
13542,13542,13542,13542,13542,13542,13542,13542,6829,Severe muscular hypotonia,HPO,phenotype,PHENOTYPE_13542
13543,13543,13543,13543,13543,13543,13543,13543,34014,Tubulonodular pericallosal lipoma,HPO,phenotype,PHENOTYPE_13543
13544,13544,13544,13544,13544,13544,13544,13544,33578,Pre-capillary pulmonary hypertension,HPO,phenotype,PHENOTYPE_13544
13545,13545,13545,13545,13545,13545,13545,13545,11135,Aplasia/Hypoplasia of the sweat glands,HPO,phenotype,PHENOTYPE_13545
13546,13546,13546,13546,13546,13546,13546,13546,6001039,Scrotal worm,HPO,phenotype,PHENOTYPE_13546
13547,13547,13547,13547,13547,13547,13547,13547,33285,Thickened glomerular basement membranes with no electron dense deposits,HPO,phenotype,PHENOTYPE_13547
13548,13548,13548,13548,13548,13548,13548,13548,564,Lacrimal duct atresia,HPO,phenotype,PHENOTYPE_13548
13549,13549,13549,13549,13549,13549,13549,13549,8383,Slow-growing nails,HPO,phenotype,PHENOTYPE_13549
13550,13550,13550,13550,13550,13550,13550,13550,6228,Valgus hand deformity,HPO,phenotype,PHENOTYPE_13550
13551,13551,13551,13551,13551,13551,13551,13551,100541,Femoral hernia,HPO,phenotype,PHENOTYPE_13551
13552,13552,13552,13552,13552,13552,13552,13552,33884,Abnormal cortical radial artery lumen morphology,HPO,phenotype,PHENOTYPE_13552
13553,13553,13553,13553,13553,13553,13553,13553,4000001,Abnormal cardiac magnetic resonance imaging finding,HPO,phenotype,PHENOTYPE_13553
13554,13554,13554,13554,13554,13554,13554,13554,6190,Radially deviated wrists,HPO,phenotype,PHENOTYPE_13554
13555,13555,13555,13555,13555,13555,13555,13555,6000987,Tortuous appearance of the stomach,HPO,phenotype,PHENOTYPE_13555
13556,13556,13556,13556,13556,13556,13556,13556,9385,Enlarged epiphyses of the 5th finger,HPO,phenotype,PHENOTYPE_13556
13557,13557,13557,13557,13557,13557,13557,13557,10078,Bullet-shaped distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_13557
13558,13558,13558,13558,13558,13558,13558,13558,1596,Alopecia,HPO,phenotype,PHENOTYPE_13558
13559,13559,13559,13559,13559,13559,13559,13559,12724,Upper eyelid edema,HPO,phenotype,PHENOTYPE_13559
13560,13560,13560,13560,13560,13560,13560,13560,30368,Hyperphalangy of the 2nd finger,HPO,phenotype,PHENOTYPE_13560
13561,13561,13561,13561,13561,13561,13561,13561,11083,Conical maxillary incisor,HPO,phenotype,PHENOTYPE_13561
13562,13562,13562,13562,13562,13562,13562,13562,3698,Difficulty standing,HPO,phenotype,PHENOTYPE_13562
13563,13563,13563,13563,13563,13563,13563,13563,7117,Corticospinal tract atrophy,HPO,phenotype,PHENOTYPE_13563
13564,13564,13564,13564,13564,13564,13564,13564,34547,Intraluminal meconium calcification,HPO,phenotype,PHENOTYPE_13564
13565,13565,13565,13565,13565,13565,13565,13565,32397,Citrullinuria,HPO,phenotype,PHENOTYPE_13565
13566,13566,13566,13566,13566,13566,13566,13566,9914,Cyclopia,HPO,phenotype,PHENOTYPE_13566
13567,13567,13567,13567,13567,13567,13567,13567,2888,Ependymoma,HPO,phenotype,PHENOTYPE_13567
13568,13568,13568,13568,13568,13568,13568,13568,500048,Delayed canalization of nasolacrimal duct,HPO,phenotype,PHENOTYPE_13568
13569,13569,13569,13569,13569,13569,13569,13569,32255,Opportunistic fungal infection,HPO,phenotype,PHENOTYPE_13569
13570,13570,13570,13570,13570,13570,13570,13570,11205,EEG with intermittent slow activity,HPO,phenotype,PHENOTYPE_13570
13571,13571,13571,13571,13571,13571,13571,13571,11538,Atrial situs inversus,HPO,phenotype,PHENOTYPE_13571
13572,13572,13572,13572,13572,13572,13572,13572,6000900,Positive mumps virus PCR test in the blood circulation,HPO,phenotype,PHENOTYPE_13572
13573,13573,13573,13573,13573,13573,13573,13573,2186,Apraxia,HPO,phenotype,PHENOTYPE_13573
13574,13574,13574,13574,13574,13574,13574,13574,683,Grayish enamel,HPO,phenotype,PHENOTYPE_13574
13575,13575,13575,13575,13575,13575,13575,13575,40151,Epiblepharon of lower lid,HPO,phenotype,PHENOTYPE_13575
13576,13576,13576,13576,13576,13576,13576,13576,8160,3-hydroxydicarboxylic aciduria,HPO,phenotype,PHENOTYPE_13576
13577,13577,13577,13577,13577,13577,13577,13577,32753,Focal impaired awareness emotional seizure with agitation,HPO,phenotype,PHENOTYPE_13577
13578,13578,13578,13578,13578,13578,13578,13578,30894,Insufficient response to short acting pulmonary vasodilator,HPO,phenotype,PHENOTYPE_13578
13579,13579,13579,13579,13579,13579,13579,13579,34514,Liver hamartoma,HPO,phenotype,PHENOTYPE_13579
13580,13580,13580,13580,13580,13580,13580,13580,34545,Elevated circulating pancreatic secretory trypsin inhibitor activity,HPO,phenotype,PHENOTYPE_13580
13581,13581,13581,13581,13581,13581,13581,13581,31651,Abnormal tricuspid valve physiology,HPO,phenotype,PHENOTYPE_13581
13582,13582,13582,13582,13582,13582,13582,13582,3305,Block vertebrae,HPO,phenotype,PHENOTYPE_13582
13583,13583,13583,13583,13583,13583,13583,13583,41227,Fractured distal tarsal bone 2,HPO,phenotype,PHENOTYPE_13583
13584,13584,13584,13584,13584,13584,13584,13584,34924,Abnormal dermis morphology,HPO,phenotype,PHENOTYPE_13584
13585,13585,13585,13585,13585,13585,13585,13585,25440,Warm reactive autoantibody positivity,HPO,phenotype,PHENOTYPE_13585
13586,13586,13586,13586,13586,13586,13586,13586,10423,Partial duplication of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_13586
13587,13587,13587,13587,13587,13587,13587,13587,2121,Generalized non-motor (absence) seizure,HPO,phenotype,PHENOTYPE_13587
13588,13588,13588,13588,13588,13588,13588,13588,2550,Absent facial hair,HPO,phenotype,PHENOTYPE_13588
13589,13589,13589,13589,13589,13589,13589,13589,100893,Prominent xiphoid process,HPO,phenotype,PHENOTYPE_13589
13590,13590,13590,13590,13590,13590,13590,13590,3944,Narrow joint spaces of the elbow,HPO,phenotype,PHENOTYPE_13590
13591,13591,13591,13591,13591,13591,13591,13591,410182,Decreased glucose-6-phosphate dehydrogenase level in dried blood spot,HPO,phenotype,PHENOTYPE_13591
13592,13592,13592,13592,13592,13592,13592,13592,34628,Lymph node xanthomatosis,HPO,phenotype,PHENOTYPE_13592
13593,13593,13593,13593,13593,13593,13593,13593,20225,Breast abscess,HPO,phenotype,PHENOTYPE_13593
13594,13594,13594,13594,13594,13594,13594,13594,31126,Impaired clot retraction,HPO,phenotype,PHENOTYPE_13594
13595,13595,13595,13595,13595,13595,13595,13595,200063,Colorectal polyposis,HPO,phenotype,PHENOTYPE_13595
13596,13596,13596,13596,13596,13596,13596,13596,875,Episodic hypertension,HPO,phenotype,PHENOTYPE_13596
13597,13597,13597,13597,13597,13597,13597,13597,11843,Abnormal musculoskeletal physiology,HPO,phenotype,PHENOTYPE_13597
13598,13598,13598,13598,13598,13598,13598,13598,5054,Metaphyseal spurs,HPO,phenotype,PHENOTYPE_13598
13599,13599,13599,13599,13599,13599,13599,13599,3306,Spinal rigidity,HPO,phenotype,PHENOTYPE_13599
13600,13600,13600,13600,13600,13600,13600,13600,921,Missing ribs,HPO,phenotype,PHENOTYPE_13600
13601,13601,13601,13601,13601,13601,13601,13601,40129,Abnormal nerve conduction velocity,HPO,phenotype,PHENOTYPE_13601
13602,13602,13602,13602,13602,13602,13602,13602,2536,Abnormal cortical gyration,HPO,phenotype,PHENOTYPE_13602
13603,13603,13603,13603,13603,13603,13603,13603,25361,Abnormal medullary pyramid morphology,HPO,phenotype,PHENOTYPE_13603
13604,13604,13604,13604,13604,13604,13604,13604,34557,Rhabdoid tumor,HPO,phenotype,PHENOTYPE_13604
13605,13605,13605,13605,13605,13605,13605,13605,33770,Gastric adenocarcinoma,HPO,phenotype,PHENOTYPE_13605
13606,13606,13606,13606,13606,13606,13606,13606,30549,Unaided visual acuity 2.0 LogMAR,HPO,phenotype,PHENOTYPE_13606
13607,13607,13607,13607,13607,13607,13607,13607,164,Abnormality of the dentition,HPO,phenotype,PHENOTYPE_13607
13608,13608,13608,13608,13608,13608,13608,13608,317,Facial myokymia,HPO,phenotype,PHENOTYPE_13608
13609,13609,13609,13609,13609,13609,13609,13609,430069,Positive JC-virus PCR test in the blood circulation,HPO,phenotype,PHENOTYPE_13609
13610,13610,13610,13610,13610,13610,13610,13610,12059,Lentigo maligna melanoma,HPO,phenotype,PHENOTYPE_13610
13611,13611,13611,13611,13611,13611,13611,13611,6262,Aplasia/Hypoplasia of the 5th finger,HPO,phenotype,PHENOTYPE_13611
13612,13612,13612,13612,13612,13612,13612,13612,30776,Modic type I vertebral endplate changes,HPO,phenotype,PHENOTYPE_13612
13613,13613,13613,13613,13613,13613,13613,13613,9147,Enlarged epiphysis of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_13613
13614,13614,13614,13614,13614,13614,13614,13614,34130,Anti-GT1a IgG antibody positivity,HPO,phenotype,PHENOTYPE_13614
13615,13615,13615,13615,13615,13615,13615,13615,10277,Stippling of the epiphyses of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_13615
13616,13616,13616,13616,13616,13616,13616,13616,1933,Subcutaneous hemorrhage,HPO,phenotype,PHENOTYPE_13616
13617,13617,13617,13617,13617,13617,13617,13617,45043,Decreased circulating complement C4a concentration,HPO,phenotype,PHENOTYPE_13617
13618,13618,13618,13618,13618,13618,13618,13618,33914,Arcuate artery intima/media amyloidosis,HPO,phenotype,PHENOTYPE_13618
13619,13619,13619,13619,13619,13619,13619,13619,100102,Cone-shaped epiphysis of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_13619
13620,13620,13620,13620,13620,13620,13620,13620,41191,Fractured epiphysis of third metacarpal bone,HPO,phenotype,PHENOTYPE_13620
13621,13621,13621,13621,13621,13621,13621,13621,100378,Absent distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_13621
13622,13622,13622,13622,13622,13622,13622,13622,32823,Neonatal electro-clinical seizure with behavior arrest,HPO,phenotype,PHENOTYPE_13622
13623,13623,13623,13623,13623,13623,13623,13623,1373,Joint dislocation,HPO,phenotype,PHENOTYPE_13623
13624,13624,13624,13624,13624,13624,13624,13624,6812,White mater abnormalities in the posterior periventricular region,HPO,phenotype,PHENOTYPE_13624
13625,13625,13625,13625,13625,13625,13625,13625,8873,Disproportionate short-limb short stature,HPO,phenotype,PHENOTYPE_13625
13626,13626,13626,13626,13626,13626,13626,13626,2666,Pheochromocytoma,HPO,phenotype,PHENOTYPE_13626
13627,13627,13627,13627,13627,13627,13627,13627,9207,Fragmentation of the epiphysis of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_13627
13628,13628,13628,13628,13628,13628,13628,13628,100169,Absent epiphysis of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_13628
13629,13629,13629,13629,13629,13629,13629,13629,32128,Increased proportion of plasmablasts,HPO,phenotype,PHENOTYPE_13629
13630,13630,13630,13630,13630,13630,13630,13630,500262,Atrichia,HPO,phenotype,PHENOTYPE_13630
13631,13631,13631,13631,13631,13631,13631,13631,8991,Exercise-induced leg cramps,HPO,phenotype,PHENOTYPE_13631
13632,13632,13632,13632,13632,13632,13632,13632,25635,Ureteral polyp,HPO,phenotype,PHENOTYPE_13632
13633,13633,13633,13633,13633,13633,13633,13633,12513,Upper limb pain,HPO,phenotype,PHENOTYPE_13633
13634,13634,13634,13634,13634,13634,13634,13634,1744,Splenomegaly,HPO,phenotype,PHENOTYPE_13634
13635,13635,13635,13635,13635,13635,13635,13635,3402,Decreased miniature endplate potentials,HPO,phenotype,PHENOTYPE_13635
13636,13636,13636,13636,13636,13636,13636,13636,30569,Pinhole visual acuity 0.1 LogMAR,HPO,phenotype,PHENOTYPE_13636
13637,13637,13637,13637,13637,13637,13637,13637,32649,Skewfoot,HPO,phenotype,PHENOTYPE_13637
13638,13638,13638,13638,13638,13638,13638,13638,31506,Increased circulating T4 concentration,HPO,phenotype,PHENOTYPE_13638
13639,13639,13639,13639,13639,13639,13639,13639,6000269,Elevated urinary pipecolic acid level,HPO,phenotype,PHENOTYPE_13639
13640,13640,13640,13640,13640,13640,13640,13640,410020,Fish odor,HPO,phenotype,PHENOTYPE_13640
13641,13641,13641,13641,13641,13641,13641,13641,32794,Myoclonic seizure,HPO,phenotype,PHENOTYPE_13641
13642,13642,13642,13642,13642,13642,13642,13642,31052,Elevated vascular endothelial growth factor level,HPO,phenotype,PHENOTYPE_13642
13643,13643,13643,13643,13643,13643,13643,13643,2073,Progressive cerebellar ataxia,HPO,phenotype,PHENOTYPE_13643
13644,13644,13644,13644,13644,13644,13644,13644,12518,Abnormal circle of Willis morphology,HPO,phenotype,PHENOTYPE_13644
13645,13645,13645,13645,13645,13645,13645,13645,25804,Painful lymphadenopathy,HPO,phenotype,PHENOTYPE_13645
13646,13646,13646,13646,13646,13646,13646,13646,10893,Abnormal circulating phenylalanine concentration,HPO,phenotype,PHENOTYPE_13646
13647,13647,13647,13647,13647,13647,13647,13647,31337,Abnormal cardiomyocyte connexin43 staining,HPO,phenotype,PHENOTYPE_13647
13648,13648,13648,13648,13648,13648,13648,13648,31062,Impaired transferring ability,HPO,phenotype,PHENOTYPE_13648
13649,13649,13649,13649,13649,13649,13649,13649,100773,Cartilage destruction,HPO,phenotype,PHENOTYPE_13649
13650,13650,13650,13650,13650,13650,13650,13650,4916,Generalized distal tubular acidosis,HPO,phenotype,PHENOTYPE_13650
13651,13651,13651,13651,13651,13651,13651,13651,745,Abnormal diminished volition,HPO,phenotype,PHENOTYPE_13651
13652,13652,13652,13652,13652,13652,13652,13652,2848,Decreased specific anti-polysaccharide antibody level,HPO,phenotype,PHENOTYPE_13652
13653,13653,13653,13653,13653,13653,13653,13653,34163,Reduced circulating interleukin 10 concentration,HPO,phenotype,PHENOTYPE_13653
13654,13654,13654,13654,13654,13654,13654,13654,200018,Protanomaly,HPO,phenotype,PHENOTYPE_13654
13655,13655,13655,13655,13655,13655,13655,13655,100061,Ivory epiphyses of the 3rd toe,HPO,phenotype,PHENOTYPE_13655
13656,13656,13656,13656,13656,13656,13656,13656,40173,Abnormality of the tongue muscle,HPO,phenotype,PHENOTYPE_13656
13657,13657,13657,13657,13657,13657,13657,13657,2561,Absent nipple,HPO,phenotype,PHENOTYPE_13657
13658,13658,13658,13658,13658,13658,13658,13658,9266,Irregular epiphysis of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_13658
13659,13659,13659,13659,13659,13659,13659,13659,35013,Abnormal extrahepatic bile duct morphology,HPO,phenotype,PHENOTYPE_13659
13660,13660,13660,13660,13660,13660,13660,13660,500249,Abnormal circulating ethanolamine concentration,HPO,phenotype,PHENOTYPE_13660
13661,13661,13661,13661,13661,13661,13661,13661,3784,Type 1 collagen overmodification,HPO,phenotype,PHENOTYPE_13661
13662,13662,13662,13662,13662,13662,13662,13662,2013,Vomiting,HPO,phenotype,PHENOTYPE_13662
13663,13663,13663,13663,13663,13663,13663,13663,11302,Long palm,HPO,phenotype,PHENOTYPE_13663
13664,13664,13664,13664,13664,13664,13664,13664,31460,Benign muscle neoplasm,HPO,phenotype,PHENOTYPE_13664
13665,13665,13665,13665,13665,13665,13665,13665,2689,Absent paranasal sinuses,HPO,phenotype,PHENOTYPE_13665
13666,13666,13666,13666,13666,13666,13666,13666,31234,Neutrophilic infiltration of the skin,HPO,phenotype,PHENOTYPE_13666
13667,13667,13667,13667,13667,13667,13667,13667,5000039,Anti-Zic4 antibody positivity,HPO,phenotype,PHENOTYPE_13667
13668,13668,13668,13668,13668,13668,13668,13668,414,Bulbous nose,HPO,phenotype,PHENOTYPE_13668
13669,13669,13669,13669,13669,13669,13669,13669,32934,Spontaneous cerebrospinal fluid leak,HPO,phenotype,PHENOTYPE_13669
13670,13670,13670,13670,13670,13670,13670,13670,6001144,Pain at the anterior aspect of the knee,HPO,phenotype,PHENOTYPE_13670
13671,13671,13671,13671,13671,13671,13671,13671,1847,Long hallux,HPO,phenotype,PHENOTYPE_13671
13672,13672,13672,13672,13672,13672,13672,13672,6000571,Reduced tissue tripeptidyl peptidase 1 activity,HPO,phenotype,PHENOTYPE_13672
13673,13673,13673,13673,13673,13673,13673,13673,7360,Aplasia/Hypoplasia of the cerebellum,HPO,phenotype,PHENOTYPE_13673
13674,13674,13674,13674,13674,13674,13674,13674,30121,Reduced muscle fiber calpain-3,HPO,phenotype,PHENOTYPE_13674
13675,13675,13675,13675,13675,13675,13675,13675,2457,Abnormal head movements,HPO,phenotype,PHENOTYPE_13675
13676,13676,13676,13676,13676,13676,13676,13676,30446,Atypical pulmonary carcinoid tumor,HPO,phenotype,PHENOTYPE_13676
13677,13677,13677,13677,13677,13677,13677,13677,25502,Overweight,HPO,phenotype,PHENOTYPE_13677
13678,13678,13678,13678,13678,13678,13678,13678,30283,Partial absence of the septum pellucidum,HPO,phenotype,PHENOTYPE_13678
13679,13679,13679,13679,13679,13679,13679,13679,34818,Severe oligozoospermia,HPO,phenotype,PHENOTYPE_13679
13680,13680,13680,13680,13680,13680,13680,13680,33720,EEG with occipital epileptiform discharges,HPO,phenotype,PHENOTYPE_13680
13681,13681,13681,13681,13681,13681,13681,13681,30833,Neck pain,HPO,phenotype,PHENOTYPE_13681
13682,13682,13682,13682,13682,13682,13682,13682,25715,Abnormal umbilical artery doppler waveform during pregnancy,HPO,phenotype,PHENOTYPE_13682
13683,13683,13683,13683,13683,13683,13683,13683,1258,Spastic paraplegia,HPO,phenotype,PHENOTYPE_13683
13684,13684,13684,13684,13684,13684,13684,13684,10273,Irregular epiphyses of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_13684
13685,13685,13685,13685,13685,13685,13685,13685,10369,Abnormality of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_13685
13686,13686,13686,13686,13686,13686,13686,13686,31858,Esophageal furrows,HPO,phenotype,PHENOTYPE_13686
13687,13687,13687,13687,13687,13687,13687,13687,7700,Ocular anterior segment dysgenesis,HPO,phenotype,PHENOTYPE_13687
13688,13688,13688,13688,13688,13688,13688,13688,9051,Increased muscle glycogen content,HPO,phenotype,PHENOTYPE_13688
13689,13689,13689,13689,13689,13689,13689,13689,6514,Intraalveolar nodular calcifications,HPO,phenotype,PHENOTYPE_13689
13690,13690,13690,13690,13690,13690,13690,13690,12271,Episodic upper airway obstruction,HPO,phenotype,PHENOTYPE_13690
13691,13691,13691,13691,13691,13691,13691,13691,6001019,Eggshell calcification of lymph nodes,HPO,phenotype,PHENOTYPE_13691
13692,13692,13692,13692,13692,13692,13692,13692,33028,Anti-U1 ribonucleoprotein antibody positivity,HPO,phenotype,PHENOTYPE_13692
13693,13693,13693,13693,13693,13693,13693,13693,6000133,Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity,HPO,phenotype,PHENOTYPE_13693
13694,13694,13694,13694,13694,13694,13694,13694,34191,Elevated fetal middle cerebral artery peak systolic velocity,HPO,phenotype,PHENOTYPE_13694
13695,13695,13695,13695,13695,13695,13695,13695,10791,Hyperplasia of the Leydig cells,HPO,phenotype,PHENOTYPE_13695
13696,13696,13696,13696,13696,13696,13696,13696,11969,Elevated circulating luteinizing hormone level,HPO,phenotype,PHENOTYPE_13696
13697,13697,13697,13697,13697,13697,13697,13697,31446,Erosion of oral mucosa,HPO,phenotype,PHENOTYPE_13697
13698,13698,13698,13698,13698,13698,13698,13698,100406,Duplication of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_13698
13699,13699,13699,13699,13699,13699,13699,13699,6433,Radial dysplasia,HPO,phenotype,PHENOTYPE_13699
13700,13700,13700,13700,13700,13700,13700,13700,41050,Renal tubular cyst,HPO,phenotype,PHENOTYPE_13700
13701,13701,13701,13701,13701,13701,13701,13701,35007,Thin spermatozoon midpiece,HPO,phenotype,PHENOTYPE_13701
13702,13702,13702,13702,13702,13702,13702,13702,31694,Severe adenovirus infection,HPO,phenotype,PHENOTYPE_13702
13703,13703,13703,13703,13703,13703,13703,13703,5308,Pulmonary artery vasoconstriction,HPO,phenotype,PHENOTYPE_13703
13704,13704,13704,13704,13704,13704,13704,13704,5200020,Abnormal interest in others,HPO,phenotype,PHENOTYPE_13704
13705,13705,13705,13705,13705,13705,13705,13705,8542,Low-frequency hearing loss,HPO,phenotype,PHENOTYPE_13705
13706,13706,13706,13706,13706,13706,13706,13706,25052,Abnormal brain N-acetyl aspartate level by MRS,HPO,phenotype,PHENOTYPE_13706
13707,13707,13707,13707,13707,13707,13707,13707,10823,Ridged cranial sutures,HPO,phenotype,PHENOTYPE_13707
13708,13708,13708,13708,13708,13708,13708,13708,5259,Abnormal facility in opposing the shoulders,HPO,phenotype,PHENOTYPE_13708
13709,13709,13709,13709,13709,13709,13709,13709,32217,Indurated nodule,HPO,phenotype,PHENOTYPE_13709
13710,13710,13710,13710,13710,13710,13710,13710,40419,Elevated urine guanidinoacetic acid level,HPO,phenotype,PHENOTYPE_13710
13711,13711,13711,13711,13711,13711,13711,13711,11382,Hypoplasia of the semicircular canal,HPO,phenotype,PHENOTYPE_13711
13712,13712,13712,13712,13712,13712,13712,13712,10654,Aplasia of the falx cerebri,HPO,phenotype,PHENOTYPE_13712
13713,13713,13713,13713,13713,13713,13713,13713,3000047,Abnormal glossopharyngeal nerve morphology,HPO,phenotype,PHENOTYPE_13713
13714,13714,13714,13714,13714,13714,13714,13714,30658,Marginal umbilical cord insertion,HPO,phenotype,PHENOTYPE_13714
13715,13715,13715,13715,13715,13715,13715,13715,499,Abnormal eyelash morphology,HPO,phenotype,PHENOTYPE_13715
13716,13716,13716,13716,13716,13716,13716,13716,9723,Abnormal subungual morphology,HPO,phenotype,PHENOTYPE_13716
13717,13717,13717,13717,13717,13717,13717,13717,33481,Limited lateral neck flexion,HPO,phenotype,PHENOTYPE_13717
13718,13718,13718,13718,13718,13718,13718,13718,410263,Brain imaging abnormality,HPO,phenotype,PHENOTYPE_13718
13719,13719,13719,13719,13719,13719,13719,13719,25229,Triggered by vestibular stimulation,HPO,phenotype,PHENOTYPE_13719
13720,13720,13720,13720,13720,13720,13720,13720,8277,Abnormal blood zinc concentration,HPO,phenotype,PHENOTYPE_13720
13721,13721,13721,13721,13721,13721,13721,13721,5200237,Pronunciation difficulties,HPO,phenotype,PHENOTYPE_13721
13722,13722,13722,13722,13722,13722,13722,13722,100214,Bracket epiphysis of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_13722
13723,13723,13723,13723,13723,13723,13723,13723,3749,Pelvic girdle muscle weakness,HPO,phenotype,PHENOTYPE_13723
13724,13724,13724,13724,13724,13724,13724,13724,10115,Cone-shaped epiphyses of the hallux,HPO,phenotype,PHENOTYPE_13724
13725,13725,13725,13725,13725,13725,13725,13725,9678,Enlarged epiphysis of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_13725
13726,13726,13726,13726,13726,13726,13726,13726,100547,Abnormal forebrain morphology,HPO,phenotype,PHENOTYPE_13726
13727,13727,13727,13727,13727,13727,13727,13727,7965,Undetectable visual evoked potentials,HPO,phenotype,PHENOTYPE_13727
13728,13728,13728,13728,13728,13728,13728,13728,30966,Abnormal pulmonary artery morphology,HPO,phenotype,PHENOTYPE_13728
13729,13729,13729,13729,13729,13729,13729,13729,100388,Aplasia of the proximal phalanges of the toes,HPO,phenotype,PHENOTYPE_13729
13730,13730,13730,13730,13730,13730,13730,13730,11285,Long-segment aganglionic megacolon,HPO,phenotype,PHENOTYPE_13730
13731,13731,13731,13731,13731,13731,13731,13731,7722,Retinal pigment epithelial atrophy,HPO,phenotype,PHENOTYPE_13731
13732,13732,13732,13732,13732,13732,13732,13732,34049,Elevated urinary prostaglandin E2 level,HPO,phenotype,PHENOTYPE_13732
13733,13733,13733,13733,13733,13733,13733,13733,12865,Abnormal sperm head morphology,HPO,phenotype,PHENOTYPE_13733
13734,13734,13734,13734,13734,13734,13734,13734,766,Abnormal sternum morphology,HPO,phenotype,PHENOTYPE_13734
13735,13735,13735,13735,13735,13735,13735,13735,12905,Euryblepharon,HPO,phenotype,PHENOTYPE_13735
13736,13736,13736,13736,13736,13736,13736,13736,8639,Gonadal hypoplasia,HPO,phenotype,PHENOTYPE_13736
13737,13737,13737,13737,13737,13737,13737,13737,11492,Abnormal corneal stroma morphology,HPO,phenotype,PHENOTYPE_13737
13738,13738,13738,13738,13738,13738,13738,13738,8519,Abnormal coccyx morphology,HPO,phenotype,PHENOTYPE_13738
13739,13739,13739,13739,13739,13739,13739,13739,31479,Dilatation of the mitral annulus,HPO,phenotype,PHENOTYPE_13739
13740,13740,13740,13740,13740,13740,13740,13740,3361,Tryptophanuria,HPO,phenotype,PHENOTYPE_13740
13741,13741,13741,13741,13741,13741,13741,13741,10587,Triangular epiphysis,HPO,phenotype,PHENOTYPE_13741
13742,13742,13742,13742,13742,13742,13742,13742,9436,Triangular shaped middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_13742
13743,13743,13743,13743,13743,13743,13743,13743,33367,Orthodeoxia,HPO,phenotype,PHENOTYPE_13743
13744,13744,13744,13744,13744,13744,13744,13744,34476,Positive fecal Clostridium botulinum test,HPO,phenotype,PHENOTYPE_13744
13745,13745,13745,13745,13745,13745,13745,13745,12713,Moderate hearing impairment,HPO,phenotype,PHENOTYPE_13745
13746,13746,13746,13746,13746,13746,13746,13746,6000462,Anti-ADAMTS13 antibody positivity,HPO,phenotype,PHENOTYPE_13746
13747,13747,13747,13747,13747,13747,13747,13747,100631,Neoplasm of the adrenal gland,HPO,phenotype,PHENOTYPE_13747
13748,13748,13748,13748,13748,13748,13748,13748,7468,Perifollicular hyperkeratosis,HPO,phenotype,PHENOTYPE_13748
13749,13749,13749,13749,13749,13749,13749,13749,410290,Positive urine norpropoxyphene test,HPO,phenotype,PHENOTYPE_13749
13750,13750,13750,13750,13750,13750,13750,13750,4020,Irregular ossification of the radial metaphysis,HPO,phenotype,PHENOTYPE_13750
13751,13751,13751,13751,13751,13751,13751,13751,20217,Focal aware motor seizure,HPO,phenotype,PHENOTYPE_13751
13752,13752,13752,13752,13752,13752,13752,13752,3704,Scapuloperoneal weakness,HPO,phenotype,PHENOTYPE_13752
13753,13753,13753,13753,13753,13753,13753,13753,410309,Alpha-aminoadipic aciduria,HPO,phenotype,PHENOTYPE_13753
13754,13754,13754,13754,13754,13754,13754,13754,4458,Dilatated internal auditory canal,HPO,phenotype,PHENOTYPE_13754
13755,13755,13755,13755,13755,13755,13755,13755,34788,Pericardial friction rub,HPO,phenotype,PHENOTYPE_13755
13756,13756,13756,13756,13756,13756,13756,13756,3000033,Abnormal nasopharyngeal adenoid morphology,HPO,phenotype,PHENOTYPE_13756
13757,13757,13757,13757,13757,13757,13757,13757,5745,Congenital foot contractures,HPO,phenotype,PHENOTYPE_13757
13758,13758,13758,13758,13758,13758,13758,13758,9941,Asymmetry of the mouth,HPO,phenotype,PHENOTYPE_13758
13759,13759,13759,13759,13759,13759,13759,13759,11011,Subacute,HPO,phenotype,PHENOTYPE_13759
13760,13760,13760,13760,13760,13760,13760,13760,11720,Cardiac total anomalous pulmonary venous connection,HPO,phenotype,PHENOTYPE_13760
13761,13761,13761,13761,13761,13761,13761,13761,100426,Broad middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_13761
13762,13762,13762,13762,13762,13762,13762,13762,500100,Plasma/serum xenobiotic,HPO,phenotype,PHENOTYPE_13762
13763,13763,13763,13763,13763,13763,13763,13763,12066,Increased urinary disaccharide excretion,HPO,phenotype,PHENOTYPE_13763
13764,13764,13764,13764,13764,13764,13764,13764,12325,Chronic myelomonocytic leukemia,HPO,phenotype,PHENOTYPE_13764
13765,13765,13765,13765,13765,13765,13765,13765,410384,"Abnormal proportion of central memory CD8-positive, alpha-beta T cells",HPO,phenotype,PHENOTYPE_13765
13766,13766,13766,13766,13766,13766,13766,13766,6000414,Duplicate uterine cervix,HPO,phenotype,PHENOTYPE_13766
13767,13767,13767,13767,13767,13767,13767,13767,31436,Singsong Intonation,HPO,phenotype,PHENOTYPE_13767
13768,13768,13768,13768,13768,13768,13768,13768,11241,Serpiginous stem of antihelix,HPO,phenotype,PHENOTYPE_13768
13769,13769,13769,13769,13769,13769,13769,13769,11994,Abnormal atrial septum morphology,HPO,phenotype,PHENOTYPE_13769
13770,13770,13770,13770,13770,13770,13770,13770,12870,Vanishing testis,HPO,phenotype,PHENOTYPE_13770
13771,13771,13771,13771,13771,13771,13771,13771,32260,Opportunistic bacterial infection,HPO,phenotype,PHENOTYPE_13771
13772,13772,13772,13772,13772,13772,13772,13772,9557,Aplasia/Hypoplasia of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_13772
13773,13773,13773,13773,13773,13773,13773,13773,34188,Midline liver,HPO,phenotype,PHENOTYPE_13773
13774,13774,13774,13774,13774,13774,13774,13774,34247,Fetal lower urinary tract obstruction,HPO,phenotype,PHENOTYPE_13774
13775,13775,13775,13775,13775,13775,13775,13775,32442,Blood group O,HPO,phenotype,PHENOTYPE_13775
13776,13776,13776,13776,13776,13776,13776,13776,500066,Latent myopia,HPO,phenotype,PHENOTYPE_13776
13777,13777,13777,13777,13777,13777,13777,13777,12053,Decreased circulating calcifediol concentration,HPO,phenotype,PHENOTYPE_13777
13778,13778,13778,13778,13778,13778,13778,13778,6000693,Reduced circulating NT-proANP concentration,HPO,phenotype,PHENOTYPE_13778
13779,13779,13779,13779,13779,13779,13779,13779,3837,Soft-tissue ossification around the shoulders,HPO,phenotype,PHENOTYPE_13779
13780,13780,13780,13780,13780,13780,13780,13780,30129,Impaired ristocetin cofactor assay activity,HPO,phenotype,PHENOTYPE_13780
13781,13781,13781,13781,13781,13781,13781,13781,31463,Esophageal squamous papilloma,HPO,phenotype,PHENOTYPE_13781
13782,13782,13782,13782,13782,13782,13782,13782,40292,Left hemiplegia,HPO,phenotype,PHENOTYPE_13782
13783,13783,13783,13783,13783,13783,13783,13783,7441,Hyperpigmented/hypopigmented macules,HPO,phenotype,PHENOTYPE_13783
13784,13784,13784,13784,13784,13784,13784,13784,369,Low-set ears,HPO,phenotype,PHENOTYPE_13784
13785,13785,13785,13785,13785,13785,13785,13785,33194,Perioral erythema,HPO,phenotype,PHENOTYPE_13785
13786,13786,13786,13786,13786,13786,13786,13786,4440,Coronal craniosynostosis,HPO,phenotype,PHENOTYPE_13786
13787,13787,13787,13787,13787,13787,13787,13787,5116,Arterial tortuosity,HPO,phenotype,PHENOTYPE_13787
13788,13788,13788,13788,13788,13788,13788,13788,32439,Airborn particle hypersensitivity,HPO,phenotype,PHENOTYPE_13788
13789,13789,13789,13789,13789,13789,13789,13789,958,Dry skin,HPO,phenotype,PHENOTYPE_13789
13790,13790,13790,13790,13790,13790,13790,13790,2089,Pulmonary hypoplasia,HPO,phenotype,PHENOTYPE_13790
13791,13791,13791,13791,13791,13791,13791,13791,6000499,Anti-factor H antibody positivity,HPO,phenotype,PHENOTYPE_13791
13792,13792,13792,13792,13792,13792,13792,13792,31709,Compensatory head tilt to the right shoulder,HPO,phenotype,PHENOTYPE_13792
13793,13793,13793,13793,13793,13793,13793,13793,40116,Aplasia of the Eustachian tube,HPO,phenotype,PHENOTYPE_13793
13794,13794,13794,13794,13794,13794,13794,13794,6000029,Social anxiety,HPO,phenotype,PHENOTYPE_13794
13795,13795,13795,13795,13795,13795,13795,13795,1945,Fever,HPO,phenotype,PHENOTYPE_13795
13796,13796,13796,13796,13796,13796,13796,13796,33657,Linear atelectasis,HPO,phenotype,PHENOTYPE_13796
13797,13797,13797,13797,13797,13797,13797,13797,31725,Hypophoria,HPO,phenotype,PHENOTYPE_13797
13798,13798,13798,13798,13798,13798,13798,13798,12488,Intraventricular arachnoid cyst,HPO,phenotype,PHENOTYPE_13798
13799,13799,13799,13799,13799,13799,13799,13799,9201,Stippling of the epiphysis of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_13799
13800,13800,13800,13800,13800,13800,13800,13800,12216,Entrapment neuropathy of suprascapular nerve,HPO,phenotype,PHENOTYPE_13800
13801,13801,13801,13801,13801,13801,13801,13801,40167,Facial papilloma,HPO,phenotype,PHENOTYPE_13801
13802,13802,13802,13802,13802,13802,13802,13802,525,Abnormality iris morphology,HPO,phenotype,PHENOTYPE_13802
13803,13803,13803,13803,13803,13803,13803,13803,31260,Triangular tibia,HPO,phenotype,PHENOTYPE_13803
13804,13804,13804,13804,13804,13804,13804,13804,12557,EEG with centrotemporal focal spike waves,HPO,phenotype,PHENOTYPE_13804
13805,13805,13805,13805,13805,13805,13805,13805,6000555,"Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity",HPO,phenotype,PHENOTYPE_13805
13806,13806,13806,13806,13806,13806,13806,13806,11311,Sydney crease,HPO,phenotype,PHENOTYPE_13806
13807,13807,13807,13807,13807,13807,13807,13807,30484,Supernormal dark-adapted bright flash electroretinogram b-wave,HPO,phenotype,PHENOTYPE_13807
13808,13808,13808,13808,13808,13808,13808,13808,6397,Lateral displacement of patellae,HPO,phenotype,PHENOTYPE_13808
13809,13809,13809,13809,13809,13809,13809,13809,25214,Triggered by heat,HPO,phenotype,PHENOTYPE_13809
13810,13810,13810,13810,13810,13810,13810,13810,12068,Aspartylglucosaminuria,HPO,phenotype,PHENOTYPE_13810
13811,13811,13811,13811,13811,13811,13811,13811,5465,Facial hyperostosis,HPO,phenotype,PHENOTYPE_13811
13812,13812,13812,13812,13812,13812,13812,13812,6510,Chronic pulmonary obstruction,HPO,phenotype,PHENOTYPE_13812
13813,13813,13813,13813,13813,13813,13813,13813,8780,Congenital bilateral hip dislocation,HPO,phenotype,PHENOTYPE_13813
13814,13814,13814,13814,13814,13814,13814,13814,7608,Abnormal palmar dermal ridges,HPO,phenotype,PHENOTYPE_13814
13815,13815,13815,13815,13815,13815,13815,13815,6976,Necrotizing encephalopathy,HPO,phenotype,PHENOTYPE_13815
13816,13816,13816,13816,13816,13816,13816,13816,34741,Elevated circulating homoarginine concentration,HPO,phenotype,PHENOTYPE_13816
13817,13817,13817,13817,13817,13817,13817,13817,4403,Proximal esophageal atresia,HPO,phenotype,PHENOTYPE_13817
13818,13818,13818,13818,13818,13818,13818,13818,9731,Cerebral hamartoma,HPO,phenotype,PHENOTYPE_13818
13819,13819,13819,13819,13819,13819,13819,13819,500250,Increased circulating ethanolamine concentration,HPO,phenotype,PHENOTYPE_13819
13820,13820,13820,13820,13820,13820,13820,13820,5150,Abnormal atrioventricular conduction,HPO,phenotype,PHENOTYPE_13820
13821,13821,13821,13821,13821,13821,13821,13821,6938,Impaired vibration sensation at ankles,HPO,phenotype,PHENOTYPE_13821
13822,13822,13822,13822,13822,13822,13822,13822,25246,Trichilemmal cyst,HPO,phenotype,PHENOTYPE_13822
13823,13823,13823,13823,13823,13823,13823,13823,9261,Absent epiphysis of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_13823
13824,13824,13824,13824,13824,13824,13824,13824,34085,Anti-PM-Scl100 antibody positivity,HPO,phenotype,PHENOTYPE_13824
13825,13825,13825,13825,13825,13825,13825,13825,10130,Enlarged epiphysis of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_13825
13826,13826,13826,13826,13826,13826,13826,13826,25595,Superior oblique muscle underaction,HPO,phenotype,PHENOTYPE_13826
13827,13827,13827,13827,13827,13827,13827,13827,34993,Hip internal rotation contracture,HPO,phenotype,PHENOTYPE_13827
13828,13828,13828,13828,13828,13828,13828,13828,100569,Abnormally ossified vertebrae,HPO,phenotype,PHENOTYPE_13828
13829,13829,13829,13829,13829,13829,13829,13829,3089,Hamstring contractures,HPO,phenotype,PHENOTYPE_13829
13830,13830,13830,13830,13830,13830,13830,13830,410074,Increased level of xylitol in urine,HPO,phenotype,PHENOTYPE_13830
13831,13831,13831,13831,13831,13831,13831,13831,832,Primary hypothyroidism,HPO,phenotype,PHENOTYPE_13831
13832,13832,13832,13832,13832,13832,13832,13832,33523,Abnormal sperm principal piece morphology,HPO,phenotype,PHENOTYPE_13832
13833,13833,13833,13833,13833,13833,13833,13833,7321,Deep white matter hypodensities,HPO,phenotype,PHENOTYPE_13833
13834,13834,13834,13834,13834,13834,13834,13834,5791,Cortical thickening of long bone diaphyses,HPO,phenotype,PHENOTYPE_13834
13835,13835,13835,13835,13835,13835,13835,13835,100167,Triangular epiphysis of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_13835
13836,13836,13836,13836,13836,13836,13836,13836,5304,Hypoplastic pulmonary veins,HPO,phenotype,PHENOTYPE_13836
13837,13837,13837,13837,13837,13837,13837,13837,25703,Type 2 schizencephaly,HPO,phenotype,PHENOTYPE_13837
13838,13838,13838,13838,13838,13838,13838,13838,6544,Extrapulmonary lobar sequestration,HPO,phenotype,PHENOTYPE_13838
13839,13839,13839,13839,13839,13839,13839,13839,1337,Tremor,HPO,phenotype,PHENOTYPE_13839
13840,13840,13840,13840,13840,13840,13840,13840,32451,Oral melanotic macule,HPO,phenotype,PHENOTYPE_13840
13841,13841,13841,13841,13841,13841,13841,13841,34800,Urinary bladder granulomatosis,HPO,phenotype,PHENOTYPE_13841
13842,13842,13842,13842,13842,13842,13842,13842,3635,Loss of subcutaneous adipose tissue in limbs,HPO,phenotype,PHENOTYPE_13842
13843,13843,13843,13843,13843,13843,13843,13843,3738,Exercise-induced myalgia,HPO,phenotype,PHENOTYPE_13843
13844,13844,13844,13844,13844,13844,13844,13844,40057,Abnormal nasal hair morphology,HPO,phenotype,PHENOTYPE_13844
13845,13845,13845,13845,13845,13845,13845,13845,34751,Inguinal lymphadenopathy,HPO,phenotype,PHENOTYPE_13845
13846,13846,13846,13846,13846,13846,13846,13846,8588,Slit-like opening of the exterior auditory meatus,HPO,phenotype,PHENOTYPE_13846
13847,13847,13847,13847,13847,13847,13847,13847,33699,Polymorphic vesicular eruption,HPO,phenotype,PHENOTYPE_13847
13848,13848,13848,13848,13848,13848,13848,13848,33502,Abnormal esterified to free carnitine ratio,HPO,phenotype,PHENOTYPE_13848
13849,13849,13849,13849,13849,13849,13849,13849,2738,Hypoplastic frontal sinuses,HPO,phenotype,PHENOTYPE_13849
13850,13850,13850,13850,13850,13850,13850,13850,33581,Absent peripheral lymph nodes in presence of infection,HPO,phenotype,PHENOTYPE_13850
13851,13851,13851,13851,13851,13851,13851,13851,30570,Pinhole visual acuity 0.2 LogMAR,HPO,phenotype,PHENOTYPE_13851
13852,13852,13852,13852,13852,13852,13852,13852,3687,Centrally nucleated skeletal muscle fibers,HPO,phenotype,PHENOTYPE_13852
13853,13853,13853,13853,13853,13853,13853,13853,9513,Absent epiphysis of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_13853
13854,13854,13854,13854,13854,13854,13854,13854,100087,Triangular epiphyses of the 5th toe,HPO,phenotype,PHENOTYPE_13854
13855,13855,13855,13855,13855,13855,13855,13855,11816,Parietal encephalocele,HPO,phenotype,PHENOTYPE_13855
13856,13856,13856,13856,13856,13856,13856,13856,40121,Abnormality of the acoustic reflex,HPO,phenotype,PHENOTYPE_13856
13857,13857,13857,13857,13857,13857,13857,13857,100618,Leydig cell neoplasia,HPO,phenotype,PHENOTYPE_13857
13858,13858,13858,13858,13858,13858,13858,13858,100019,Cortical cataract,HPO,phenotype,PHENOTYPE_13858
13859,13859,13859,13859,13859,13859,13859,13859,30389,Abnormal circulating thromboxane concentration,HPO,phenotype,PHENOTYPE_13859
13860,13860,13860,13860,13860,13860,13860,13860,31305,Tibial arterial calcification,HPO,phenotype,PHENOTYPE_13860
13861,13861,13861,13861,13861,13861,13861,13861,9349,Enlarged epiphysis of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_13861
13862,13862,13862,13862,13862,13862,13862,13862,32827,Multifocal neonatal sequential seizure,HPO,phenotype,PHENOTYPE_13862
13863,13863,13863,13863,13863,13863,13863,13863,500263,Abnormal helper T cell proportion,HPO,phenotype,PHENOTYPE_13863
13864,13864,13864,13864,13864,13864,13864,13864,31381,Decreased lymphocyte proliferation in response to mitogen,HPO,phenotype,PHENOTYPE_13864
13865,13865,13865,13865,13865,13865,13865,13865,33418,Elevated circulating 2-hydroxybutyric acid concentration,HPO,phenotype,PHENOTYPE_13865
13866,13866,13866,13866,13866,13866,13866,13866,410214,Hypercapnia in cord blood,HPO,phenotype,PHENOTYPE_13866
13867,13867,13867,13867,13867,13867,13867,13867,40196,Mild microcephaly,HPO,phenotype,PHENOTYPE_13867
13868,13868,13868,13868,13868,13868,13868,13868,375,Abnormal cochlea morphology,HPO,phenotype,PHENOTYPE_13868
13869,13869,13869,13869,13869,13869,13869,13869,1821,Broad nail,HPO,phenotype,PHENOTYPE_13869
13870,13870,13870,13870,13870,13870,13870,13870,9853,Bullet-shaped proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_13870
13871,13871,13871,13871,13871,13871,13871,13871,410238,Increased anti-plant product IgE antibody level,HPO,phenotype,PHENOTYPE_13871
13872,13872,13872,13872,13872,13872,13872,13872,4914,Recurrent infantile hypoglycemia,HPO,phenotype,PHENOTYPE_13872
13873,13873,13873,13873,13873,13873,13873,13873,33056,Impaired ability to organize,HPO,phenotype,PHENOTYPE_13873
13874,13874,13874,13874,13874,13874,13874,13874,12258,Abnormal axonemal organization of respiratory motile cilia,HPO,phenotype,PHENOTYPE_13874
13875,13875,13875,13875,13875,13875,13875,13875,9517,Fragmentation of the epiphysis of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_13875
13876,13876,13876,13876,13876,13876,13876,13876,32341,Reduced forced vital capacity,HPO,phenotype,PHENOTYPE_13876
13877,13877,13877,13877,13877,13877,13877,13877,11292,EEG with occipital sharp waves,HPO,phenotype,PHENOTYPE_13877
13878,13878,13878,13878,13878,13878,13878,13878,280,Coarse facial features,HPO,phenotype,PHENOTYPE_13878
13879,13879,13879,13879,13879,13879,13879,13879,4783,Duodenal polyposis,HPO,phenotype,PHENOTYPE_13879
13880,13880,13880,13880,13880,13880,13880,13880,8739,Labial pseudohypertrophy,HPO,phenotype,PHENOTYPE_13880
13881,13881,13881,13881,13881,13881,13881,13881,30372,Decreased proportion of naive B cells,HPO,phenotype,PHENOTYPE_13881
13882,13882,13882,13882,13882,13882,13882,13882,12019,Lens luxation,HPO,phenotype,PHENOTYPE_13882
13883,13883,13883,13883,13883,13883,13883,13883,3000073,Abnormality of levator veli palatini muscle,HPO,phenotype,PHENOTYPE_13883
13884,13884,13884,13884,13884,13884,13884,13884,31231,Narrow incisura width,HPO,phenotype,PHENOTYPE_13884
13885,13885,13885,13885,13885,13885,13885,13885,34644,Abnormal liver metabolite concentration,HPO,phenotype,PHENOTYPE_13885
13886,13886,13886,13886,13886,13886,13886,13886,33228,Triceps areflexia,HPO,phenotype,PHENOTYPE_13886
13887,13887,13887,13887,13887,13887,13887,13887,33166,Recurrent viral upper respiratory tract infections,HPO,phenotype,PHENOTYPE_13887
13888,13888,13888,13888,13888,13888,13888,13888,40162,Orthokeratosis,HPO,phenotype,PHENOTYPE_13888
13889,13889,13889,13889,13889,13889,13889,13889,4225,Abnormality of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_13889
13890,13890,13890,13890,13890,13890,13890,13890,11482,Abnormal lacrimal gland morphology,HPO,phenotype,PHENOTYPE_13890
13891,13891,13891,13891,13891,13891,13891,13891,6357,Premature loss of permanent teeth,HPO,phenotype,PHENOTYPE_13891
13892,13892,13892,13892,13892,13892,13892,13892,410225,Increased anti-drug IgE antibody level,HPO,phenotype,PHENOTYPE_13892
13893,13893,13893,13893,13893,13893,13893,13893,33107,Abnormal circulating proteinogenic amino acid concentration,HPO,phenotype,PHENOTYPE_13893
13894,13894,13894,13894,13894,13894,13894,13894,10855,EEG with localized low amplitude activity,HPO,phenotype,PHENOTYPE_13894
13895,13895,13895,13895,13895,13895,13895,13895,100757,Pancreatoblastoma,HPO,phenotype,PHENOTYPE_13895
13896,13896,13896,13896,13896,13896,13896,13896,8953,Pectoralis major hypoplasia,HPO,phenotype,PHENOTYPE_13896
13897,13897,13897,13897,13897,13897,13897,13897,10472,Abnormal circulating porphyrin concentration,HPO,phenotype,PHENOTYPE_13897
13898,13898,13898,13898,13898,13898,13898,13898,9675,Absent epiphysis of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_13898
13899,13899,13899,13899,13899,13899,13899,13899,100248,Hemiballismus,HPO,phenotype,PHENOTYPE_13899
13900,13900,13900,13900,13900,13900,13900,13900,463,Anteverted nares,HPO,phenotype,PHENOTYPE_13900
13901,13901,13901,13901,13901,13901,13901,13901,32871,Focal aware cognitive seizure with hallucination,HPO,phenotype,PHENOTYPE_13901
13902,13902,13902,13902,13902,13902,13902,13902,33181,Spinal epidural abscess,HPO,phenotype,PHENOTYPE_13902
13903,13903,13903,13903,13903,13903,13903,13903,2056,Abnormality of the glabella,HPO,phenotype,PHENOTYPE_13903
13904,13904,13904,13904,13904,13904,13904,13904,2240,Hepatomegaly,HPO,phenotype,PHENOTYPE_13904
13905,13905,13905,13905,13905,13905,13905,13905,30352,Abnormal serum insulin-like growth factor 1 level,HPO,phenotype,PHENOTYPE_13905
13906,13906,13906,13906,13906,13906,13906,13906,3482,EMG: axonal abnormality,HPO,phenotype,PHENOTYPE_13906
13907,13907,13907,13907,13907,13907,13907,13907,32230,Cytoplasmic antineutrophil antibody positivity,HPO,phenotype,PHENOTYPE_13907
13908,13908,13908,13908,13908,13908,13908,13908,31756,Medial rectus muscle underaction,HPO,phenotype,PHENOTYPE_13908
13909,13909,13909,13909,13909,13909,13909,13909,6000166,Maternal zinc deficiency,HPO,phenotype,PHENOTYPE_13909
13910,13910,13910,13910,13910,13910,13910,13910,11588,Cervical aortic arch,HPO,phenotype,PHENOTYPE_13910
13911,13911,13911,13911,13911,13911,13911,13911,100177,Small epiphysis of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_13911
13912,13912,13912,13912,13912,13912,13912,13912,30598,Abnormal Humphrey SITA 10-2 perimetry test,HPO,phenotype,PHENOTYPE_13912
13913,13913,13913,13913,13913,13913,13913,13913,25376,Hyperglutaminuria,HPO,phenotype,PHENOTYPE_13913
13914,13914,13914,13914,13914,13914,13914,13914,9371,Type A1 brachydactyly,HPO,phenotype,PHENOTYPE_13914
13915,13915,13915,13915,13915,13915,13915,13915,34159,Paget disease of bone,HPO,phenotype,PHENOTYPE_13915
13916,13916,13916,13916,13916,13916,13916,13916,31141,Increased hepatic echogenicity,HPO,phenotype,PHENOTYPE_13916
13917,13917,13917,13917,13917,13917,13917,13917,6000027,Oil-drop brown pigmentation of the corneal limbus,HPO,phenotype,PHENOTYPE_13917
13918,13918,13918,13918,13918,13918,13918,13918,9585,Patchy sclerosis of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_13918
13919,13919,13919,13919,13919,13919,13919,13919,32676,Chronic cutaneous wound,HPO,phenotype,PHENOTYPE_13919
13920,13920,13920,13920,13920,13920,13920,13920,31903,Abnormal circulating selenium concentration,HPO,phenotype,PHENOTYPE_13920
13921,13921,13921,13921,13921,13921,13921,13921,6000969,Diminished circulating hyaluronidase activity,HPO,phenotype,PHENOTYPE_13921
13922,13922,13922,13922,13922,13922,13922,13922,4000180,Tricyclic antidepressant exposure,HPO,phenotype,PHENOTYPE_13922
13923,13923,13923,13923,13923,13923,13923,13923,11973,Paroxysmal lethargy,HPO,phenotype,PHENOTYPE_13923
13924,13924,13924,13924,13924,13924,13924,13924,410152,Eosinophilic microabscess formation in the esophagus,HPO,phenotype,PHENOTYPE_13924
13925,13925,13925,13925,13925,13925,13925,13925,10627,Anterior pituitary hypoplasia,HPO,phenotype,PHENOTYPE_13925
13926,13926,13926,13926,13926,13926,13926,13926,6000968,Diminished circulating cationic trypsinogen concentration,HPO,phenotype,PHENOTYPE_13926
13927,13927,13927,13927,13927,13927,13927,13927,25581,Foveal hemorrhage,HPO,phenotype,PHENOTYPE_13927
13928,13928,13928,13928,13928,13928,13928,13928,25174,Irregular septal thickening on pulmonary HRCT,HPO,phenotype,PHENOTYPE_13928
13929,13929,13929,13929,13929,13929,13929,13929,31534,Passive dorsiflexion of the 5th finger more than 90 degrees,HPO,phenotype,PHENOTYPE_13929
13930,13930,13930,13930,13930,13930,13930,13930,25102,Dysgenesis of the basal ganglia,HPO,phenotype,PHENOTYPE_13930
13931,13931,13931,13931,13931,13931,13931,13931,6000369,Ductus venosus agenesis with intrahepatic drainage,HPO,phenotype,PHENOTYPE_13931
13932,13932,13932,13932,13932,13932,13932,13932,30219,Semantic dementia,HPO,phenotype,PHENOTYPE_13932
13933,13933,13933,13933,13933,13933,13933,13933,30466,Abnormal full-field electroretinogram,HPO,phenotype,PHENOTYPE_13933
13934,13934,13934,13934,13934,13934,13934,13934,10687,Low intestinal alkaline phosphatase,HPO,phenotype,PHENOTYPE_13934
13935,13935,13935,13935,13935,13935,13935,13935,5347,Tracheal cartilaginous sleeve,HPO,phenotype,PHENOTYPE_13935
13936,13936,13936,13936,13936,13936,13936,13936,924,Abnormality of the skeletal system,HPO,phenotype,PHENOTYPE_13936
13937,13937,13937,13937,13937,13937,13937,13937,34707,Lymph-node hemophagocytosis,HPO,phenotype,PHENOTYPE_13937
13938,13938,13938,13938,13938,13938,13938,13938,2614,Hepatic periportal necrosis,HPO,phenotype,PHENOTYPE_13938
13939,13939,13939,13939,13939,13939,13939,13939,500135,Hypotryptophanemia,HPO,phenotype,PHENOTYPE_13939
13940,13940,13940,13940,13940,13940,13940,13940,31393,Abnormal proportion of CD8-positive T cells,HPO,phenotype,PHENOTYPE_13940
13941,13941,13941,13941,13941,13941,13941,13941,6000474,Elevated circulating complement component concentration,HPO,phenotype,PHENOTYPE_13941
13942,13942,13942,13942,13942,13942,13942,13942,12038,Corneal guttata,HPO,phenotype,PHENOTYPE_13942
13943,13943,13943,13943,13943,13943,13943,13943,11055,Agenesis of permanent molar,HPO,phenotype,PHENOTYPE_13943
13944,13944,13944,13944,13944,13944,13944,13944,9391,Stippling of the epiphyses of the 5th finger,HPO,phenotype,PHENOTYPE_13944
13945,13945,13945,13945,13945,13945,13945,13945,1713,Abnormal cardiac ventricle morphology,HPO,phenotype,PHENOTYPE_13945
13946,13946,13946,13946,13946,13946,13946,13946,33844,Racing thoughts,HPO,phenotype,PHENOTYPE_13946
13947,13947,13947,13947,13947,13947,13947,13947,9432,Curved middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_13947
13948,13948,13948,13948,13948,13948,13948,13948,34917,Weak anal sphincter tone,HPO,phenotype,PHENOTYPE_13948
13949,13949,13949,13949,13949,13949,13949,13949,12476,Decreased specific pneumococcal antibody level,HPO,phenotype,PHENOTYPE_13949
13950,13950,13950,13950,13950,13950,13950,13950,100049,Irregular epiphyses of the 2nd toe,HPO,phenotype,PHENOTYPE_13950
13951,13951,13951,13951,13951,13951,13951,13951,100469,Patchy sclerosis of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_13951
13952,13952,13952,13952,13952,13952,13952,13952,33038,Anti-RNA-polymerase-III-autoantibody positivity,HPO,phenotype,PHENOTYPE_13952
13953,13953,13953,13953,13953,13953,13953,13953,30199,Fatigable weakness of neck muscles,HPO,phenotype,PHENOTYPE_13953
13954,13954,13954,13954,13954,13954,13954,13954,12300,Ureteral agenesis,HPO,phenotype,PHENOTYPE_13954
13955,13955,13955,13955,13955,13955,13955,13955,11889,Bleeding with minor or no trauma,HPO,phenotype,PHENOTYPE_13955
13956,13956,13956,13956,13956,13956,13956,13956,1293,Cranial nerve compression,HPO,phenotype,PHENOTYPE_13956
13957,13957,13957,13957,13957,13957,13957,13957,9608,Complete duplication of proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_13957
13958,13958,13958,13958,13958,13958,13958,13958,33117,Duodenitis,HPO,phenotype,PHENOTYPE_13958
13959,13959,13959,13959,13959,13959,13959,13959,6000449,Occupational exposure to raw nonsynthetic textiles,HPO,phenotype,PHENOTYPE_13959
13960,13960,13960,13960,13960,13960,13960,13960,12604,Hyponatriuria,HPO,phenotype,PHENOTYPE_13960
13961,13961,13961,13961,13961,13961,13961,13961,3397,Generalized hypotonia due to defect at the neuromuscular junction,HPO,phenotype,PHENOTYPE_13961
13962,13962,13962,13962,13962,13962,13962,13962,11122,Abnormality of skin physiology,HPO,phenotype,PHENOTYPE_13962
13963,13963,13963,13963,13963,13963,13963,13963,4727,Impaired renal concentrating ability,HPO,phenotype,PHENOTYPE_13963
13964,13964,13964,13964,13964,13964,13964,13964,3456,Low urinary cyclic AMP response to PTH administration,HPO,phenotype,PHENOTYPE_13964
13965,13965,13965,13965,13965,13965,13965,13965,2692,Hypoplastic facial bones,HPO,phenotype,PHENOTYPE_13965
13966,13966,13966,13966,13966,13966,13966,13966,10219,Structural foot deformity,HPO,phenotype,PHENOTYPE_13966
13967,13967,13967,13967,13967,13967,13967,13967,25434,Reduced circulating CH50 activity,HPO,phenotype,PHENOTYPE_13967
13968,13968,13968,13968,13968,13968,13968,13968,30041,Schmorl's node,HPO,phenotype,PHENOTYPE_13968
13969,13969,13969,13969,13969,13969,13969,13969,500160,Abnormal circulating carnosine concentration,HPO,phenotype,PHENOTYPE_13969
13970,13970,13970,13970,13970,13970,13970,13970,34963,Ureteral mass,HPO,phenotype,PHENOTYPE_13970
13971,13971,13971,13971,13971,13971,13971,13971,33347,Cognitive epileptic aura,HPO,phenotype,PHENOTYPE_13971
13972,13972,13972,13972,13972,13972,13972,13972,430096,CD23 expression,HPO,phenotype,PHENOTYPE_13972
13973,13973,13973,13973,13973,13973,13973,13973,11080,Abnormal premolar morphology,HPO,phenotype,PHENOTYPE_13973
13974,13974,13974,13974,13974,13974,13974,13974,12181,Entrapment neuropathy,HPO,phenotype,PHENOTYPE_13974
13975,13975,13975,13975,13975,13975,13975,13975,30025,Auricular pit,HPO,phenotype,PHENOTYPE_13975
13976,13976,13976,13976,13976,13976,13976,13976,235,Abnormal cranial suture/fontanelle morphology,HPO,phenotype,PHENOTYPE_13976
13977,13977,13977,13977,13977,13977,13977,13977,31678,Atherosclerotic lesion,HPO,phenotype,PHENOTYPE_13977
13978,13978,13978,13978,13978,13978,13978,13978,40134,Abnormal hepatic iron concentration,HPO,phenotype,PHENOTYPE_13978
13979,13979,13979,13979,13979,13979,13979,13979,6766,Papillary renal cell carcinoma,HPO,phenotype,PHENOTYPE_13979
13980,13980,13980,13980,13980,13980,13980,13980,2573,Hematochezia,HPO,phenotype,PHENOTYPE_13980
13981,13981,13981,13981,13981,13981,13981,13981,25517,Hypoplastic hippocampus,HPO,phenotype,PHENOTYPE_13981
13982,13982,13982,13982,13982,13982,13982,13982,34989,Interstitial dermal edema,HPO,phenotype,PHENOTYPE_13982
13983,13983,13983,13983,13983,13983,13983,13983,10090,Patchy sclerosis of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_13983
13984,13984,13984,13984,13984,13984,13984,13984,30450,Neoplasm of the autonomic nervous system,HPO,phenotype,PHENOTYPE_13984
13985,13985,13985,13985,13985,13985,13985,13985,100008,Schwannoma,HPO,phenotype,PHENOTYPE_13985
13986,13986,13986,13986,13986,13986,13986,13986,8714,Ureterovesical stenosis,HPO,phenotype,PHENOTYPE_13986
13987,13987,13987,13987,13987,13987,13987,13987,30859,Anti-topoisomerase I antibody positivity,HPO,phenotype,PHENOTYPE_13987
13988,13988,13988,13988,13988,13988,13988,13988,6001054,Intoeing,HPO,phenotype,PHENOTYPE_13988
13989,13989,13989,13989,13989,13989,13989,13989,474,Thickened nuchal skin fold,HPO,phenotype,PHENOTYPE_13989
13990,13990,13990,13990,13990,13990,13990,13990,33453,Limited neck extension,HPO,phenotype,PHENOTYPE_13990
13991,13991,13991,13991,13991,13991,13991,13991,4000139,Fetal abdominal cyst,HPO,phenotype,PHENOTYPE_13991
13992,13992,13992,13992,13992,13992,13992,13992,6000689,Elevated CSF 14-3-3 protein concentration,HPO,phenotype,PHENOTYPE_13992
13993,13993,13993,13993,13993,13993,13993,13993,25250,Closed comedo,HPO,phenotype,PHENOTYPE_13993
13994,13994,13994,13994,13994,13994,13994,13994,2333,Motor deterioration,HPO,phenotype,PHENOTYPE_13994
13995,13995,13995,13995,13995,13995,13995,13995,5233,Hypoplasia of the gallbladder,HPO,phenotype,PHENOTYPE_13995
13996,13996,13996,13996,13996,13996,13996,13996,410243,Abnormal circulating IgM concentration,HPO,phenotype,PHENOTYPE_13996
13997,13997,13997,13997,13997,13997,13997,13997,33811,Abnormal circulating androstenedione concentration,HPO,phenotype,PHENOTYPE_13997
13998,13998,13998,13998,13998,13998,13998,13998,6000916,Echogenic fetal colon,HPO,phenotype,PHENOTYPE_13998
13999,13999,13999,13999,13999,13999,13999,13999,20271,Increased lymph-node eosinophils,HPO,phenotype,PHENOTYPE_13999
14000,14000,14000,14000,14000,14000,14000,14000,25494,Coated aorta,HPO,phenotype,PHENOTYPE_14000
14001,14001,14001,14001,14001,14001,14001,14001,4426,Abnormal cheek morphology,HPO,phenotype,PHENOTYPE_14001
14002,14002,14002,14002,14002,14002,14002,14002,5564,Absence of renal corticomedullary differentiation,HPO,phenotype,PHENOTYPE_14002
14003,14003,14003,14003,14003,14003,14003,14003,410336,Venom allergy,HPO,phenotype,PHENOTYPE_14003
14004,14004,14004,14004,14004,14004,14004,14004,4271,Cortical thickening of hand bones,HPO,phenotype,PHENOTYPE_14004
14005,14005,14005,14005,14005,14005,14005,14005,11279,Abnormality of urine bicarbonate level,HPO,phenotype,PHENOTYPE_14005
14006,14006,14006,14006,14006,14006,14006,14006,11731,Abnormality of circulating cortisol level,HPO,phenotype,PHENOTYPE_14006
14007,14007,14007,14007,14007,14007,14007,14007,2652,Skeletal dysplasia,HPO,phenotype,PHENOTYPE_14007
14008,14008,14008,14008,14008,14008,14008,14008,5424,Absent specific antibody response,HPO,phenotype,PHENOTYPE_14008
14009,14009,14009,14009,14009,14009,14009,14009,10757,Aplasia of the premaxilla,HPO,phenotype,PHENOTYPE_14009
14010,14010,14010,14010,14010,14010,14010,14010,5583,Tubular basement membrane disintegration,HPO,phenotype,PHENOTYPE_14010
14011,14011,14011,14011,14011,14011,14011,14011,2074,Increased neuronal autofluorescent lipopigment,HPO,phenotype,PHENOTYPE_14011
14012,14012,14012,14012,14012,14012,14012,14012,34794,Pyriform sperm head,HPO,phenotype,PHENOTYPE_14012
14013,14013,14013,14013,14013,14013,14013,14013,34248,Increased fetal lens echogenicity,HPO,phenotype,PHENOTYPE_14013
14014,14014,14014,14014,14014,14014,14014,14014,100920,Sclerosis of 4th finger phalanx,HPO,phenotype,PHENOTYPE_14014
14015,14015,14015,14015,14015,14015,14015,14015,500256,Abnormal urine isobutyrylglycine concentration,HPO,phenotype,PHENOTYPE_14015
14016,14016,14016,14016,14016,14016,14016,14016,9514,Bracket epiphysis of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_14016
14017,14017,14017,14017,14017,14017,14017,14017,6001202,Ulnar translocation of the carpus,HPO,phenotype,PHENOTYPE_14017
14018,14018,14018,14018,14018,14018,14018,14018,5477,Progressive sclerosis of skull base,HPO,phenotype,PHENOTYPE_14018
14019,14019,14019,14019,14019,14019,14019,14019,34430,Abnormal joint physiology,HPO,phenotype,PHENOTYPE_14019
14020,14020,14020,14020,14020,14020,14020,14020,30633,Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence,HPO,phenotype,PHENOTYPE_14020
14021,14021,14021,14021,14021,14021,14021,14021,40414,Gelatinous ascites,HPO,phenotype,PHENOTYPE_14021
14022,14022,14022,14022,14022,14022,14022,14022,5684,Distal arthrogryposis,HPO,phenotype,PHENOTYPE_14022
14023,14023,14023,14023,14023,14023,14023,14023,200001,Dysharmonic accelerated bone age,HPO,phenotype,PHENOTYPE_14023
14024,14024,14024,14024,14024,14024,14024,14024,11438,Maternal teratogenic exposure,HPO,phenotype,PHENOTYPE_14024
14025,14025,14025,14025,14025,14025,14025,14025,11944,Small vessel vasculitis,HPO,phenotype,PHENOTYPE_14025
14026,14026,14026,14026,14026,14026,14026,14026,12814,Bilateral breast hypoplasia,HPO,phenotype,PHENOTYPE_14026
14027,14027,14027,14027,14027,14027,14027,14027,33462,Elevated circulating oleylcarnitine concentration,HPO,phenotype,PHENOTYPE_14027
14028,14028,14028,14028,14028,14028,14028,14028,31749,Abnormal lateral rectus muscle physiology,HPO,phenotype,PHENOTYPE_14028
14029,14029,14029,14029,14029,14029,14029,14029,33351,Candida esophagitis,HPO,phenotype,PHENOTYPE_14029
14030,14030,14030,14030,14030,14030,14030,14030,1783,Broad metatarsal,HPO,phenotype,PHENOTYPE_14030
14031,14031,14031,14031,14031,14031,14031,14031,1315,Reduced tendon reflexes,HPO,phenotype,PHENOTYPE_14031
14032,14032,14032,14032,14032,14032,14032,14032,1508,Failure to thrive,HPO,phenotype,PHENOTYPE_14032
14033,14033,14033,14033,14033,14033,14033,14033,25375,Orthotopic os odontoideum,HPO,phenotype,PHENOTYPE_14033
14034,14034,14034,14034,14034,14034,14034,14034,30750,Grade III preterm intraventricular hemorrhage,HPO,phenotype,PHENOTYPE_14034
14035,14035,14035,14035,14035,14035,14035,14035,6000296,Penis uncircumcised,HPO,phenotype,PHENOTYPE_14035
14036,14036,14036,14036,14036,14036,14036,14036,25240,Preretinal hemorrhage,HPO,phenotype,PHENOTYPE_14036
14037,14037,14037,14037,14037,14037,14037,14037,8232,Elevated circulating follicle stimulating hormone level,HPO,phenotype,PHENOTYPE_14037
14038,14038,14038,14038,14038,14038,14038,14038,9252,Cone-shaped epiphysis of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_14038
14039,14039,14039,14039,14039,14039,14039,14039,4729,Acute tubulointerstitial nephritis,HPO,phenotype,PHENOTYPE_14039
14040,14040,14040,14040,14040,14040,14040,14040,7553,Congenital symmetrical palmoplantar keratosis,HPO,phenotype,PHENOTYPE_14040
14041,14041,14041,14041,14041,14041,14041,14041,3076,Glycosuria,HPO,phenotype,PHENOTYPE_14041
14042,14042,14042,14042,14042,14042,14042,14042,12199,Cluster headache,HPO,phenotype,PHENOTYPE_14042
14043,14043,14043,14043,14043,14043,14043,14043,5200420,Delusion of love,HPO,phenotype,PHENOTYPE_14043
14044,14044,14044,14044,14044,14044,14044,14044,4756,Ventricular tachycardia,HPO,phenotype,PHENOTYPE_14044
14045,14045,14045,14045,14045,14045,14045,14045,34015,Cavitating pulmonary nodule,HPO,phenotype,PHENOTYPE_14045
14046,14046,14046,14046,14046,14046,14046,14046,12278,Abnormal circulating serine concentration,HPO,phenotype,PHENOTYPE_14046
14047,14047,14047,14047,14047,14047,14047,14047,32735,Focal aware emotional seizure with anger,HPO,phenotype,PHENOTYPE_14047
14048,14048,14048,14048,14048,14048,14048,14048,32198,Decreased prothrombin time,HPO,phenotype,PHENOTYPE_14048
14049,14049,14049,14049,14049,14049,14049,14049,410187,Decreased glucose-6-phosphate dehydrogenase level in tissue,HPO,phenotype,PHENOTYPE_14049
14050,14050,14050,14050,14050,14050,14050,14050,30341,Decreased circulating follicle stimulating hormone concentration,HPO,phenotype,PHENOTYPE_14050
14051,14051,14051,14051,14051,14051,14051,14051,41062,Transient decreased circulating IgG2,HPO,phenotype,PHENOTYPE_14051
14052,14052,14052,14052,14052,14052,14052,14052,12840,Proximal,HPO,phenotype,PHENOTYPE_14052
14053,14053,14053,14053,14053,14053,14053,14053,5510,Transient erythroblastopenia,HPO,phenotype,PHENOTYPE_14053
14054,14054,14054,14054,14054,14054,14054,14054,175,Cleft palate,HPO,phenotype,PHENOTYPE_14054
14055,14055,14055,14055,14055,14055,14055,14055,31769,Peripheral fixation,HPO,phenotype,PHENOTYPE_14055
14056,14056,14056,14056,14056,14056,14056,14056,5739,Posterior subluxation of radial head,HPO,phenotype,PHENOTYPE_14056
14057,14057,14057,14057,14057,14057,14057,14057,3593,Infantile onset,HPO,phenotype,PHENOTYPE_14057
14058,14058,14058,14058,14058,14058,14058,14058,10744,Absent metatarsal bone,HPO,phenotype,PHENOTYPE_14058
14059,14059,14059,14059,14059,14059,14059,14059,3189,Long nose,HPO,phenotype,PHENOTYPE_14059
14060,14060,14060,14060,14060,14060,14060,14060,10648,Dermal translucency,HPO,phenotype,PHENOTYPE_14060
14061,14061,14061,14061,14061,14061,14061,14061,1403,Macrovesicular hepatic steatosis,HPO,phenotype,PHENOTYPE_14061
14062,14062,14062,14062,14062,14062,14062,14062,12179,Craniofacial dystonia,HPO,phenotype,PHENOTYPE_14062
14063,14063,14063,14063,14063,14063,14063,14063,6000695,Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity,HPO,phenotype,PHENOTYPE_14063
14064,14064,14064,14064,14064,14064,14064,14064,32751,Focal impaired awareness emotional seizure with crying,HPO,phenotype,PHENOTYPE_14064
14065,14065,14065,14065,14065,14065,14065,14065,8828,Delayed proximal femoral epiphyseal ossification,HPO,phenotype,PHENOTYPE_14065
14066,14066,14066,14066,14066,14066,14066,14066,32347,Cutaneous macular amyloidosis,HPO,phenotype,PHENOTYPE_14066
14067,14067,14067,14067,14067,14067,14067,14067,410055,Decreased level of erythritol in urine,HPO,phenotype,PHENOTYPE_14067
14068,14068,14068,14068,14068,14068,14068,14068,30728,Meromelia,HPO,phenotype,PHENOTYPE_14068
14069,14069,14069,14069,14069,14069,14069,14069,1897,Normocytic anemia,HPO,phenotype,PHENOTYPE_14069
14070,14070,14070,14070,14070,14070,14070,14070,25802,Talipes varus,HPO,phenotype,PHENOTYPE_14070
14071,14071,14071,14071,14071,14071,14071,14071,2818,Abnormal morphology of the radius,HPO,phenotype,PHENOTYPE_14071
14072,14072,14072,14072,14072,14072,14072,14072,7295,Chaotic rapid conjugate ocular movements,HPO,phenotype,PHENOTYPE_14072
14073,14073,14073,14073,14073,14073,14073,14073,34409,Fordyce angiokeratoma,HPO,phenotype,PHENOTYPE_14073
14074,14074,14074,14074,14074,14074,14074,14074,11480,Unilateral microphthalmos,HPO,phenotype,PHENOTYPE_14074
14075,14075,14075,14075,14075,14075,14075,14075,33343,Mucoid diarrhea,HPO,phenotype,PHENOTYPE_14075
14076,14076,14076,14076,14076,14076,14076,14076,9053,Distal lower limb muscle weakness,HPO,phenotype,PHENOTYPE_14076
14077,14077,14077,14077,14077,14077,14077,14077,25355,Retinal arterial macroaneurysms,HPO,phenotype,PHENOTYPE_14077
14078,14078,14078,14078,14078,14078,14078,14078,31980,Abnormal urine carboxylic acid level,HPO,phenotype,PHENOTYPE_14078
14079,14079,14079,14079,14079,14079,14079,14079,34823,Decreased CSF copper concentration,HPO,phenotype,PHENOTYPE_14079
14080,14080,14080,14080,14080,14080,14080,14080,20277,Hodgkin morphology cells,HPO,phenotype,PHENOTYPE_14080
14081,14081,14081,14081,14081,14081,14081,14081,25533,Peau d'orange,HPO,phenotype,PHENOTYPE_14081
14082,14082,14082,14082,14082,14082,14082,14082,30483,Reduced amplitude of dark-adapted bright flash electroretinogram a-wave,HPO,phenotype,PHENOTYPE_14082
14083,14083,14083,14083,14083,14083,14083,14083,100347,Tibial deviation of the 5th toe,HPO,phenotype,PHENOTYPE_14083
14084,14084,14084,14084,14084,14084,14084,14084,200147,Neuronal loss in basal ganglia,HPO,phenotype,PHENOTYPE_14084
14085,14085,14085,14085,14085,14085,14085,14085,100268,Upper lip pit,HPO,phenotype,PHENOTYPE_14085
14086,14086,14086,14086,14086,14086,14086,14086,100086,Stippling of the epiphyses of the 5th toe,HPO,phenotype,PHENOTYPE_14086
14087,14087,14087,14087,14087,14087,14087,14087,33110,Elevated circulating alpha-aminobutyric acid concentration,HPO,phenotype,PHENOTYPE_14087
14088,14088,14088,14088,14088,14088,14088,14088,7859,Congenital horizontal nystagmus,HPO,phenotype,PHENOTYPE_14088
14089,14089,14089,14089,14089,14089,14089,14089,3247,Overgrowth of external genitalia,HPO,phenotype,PHENOTYPE_14089
14090,14090,14090,14090,14090,14090,14090,14090,31245,Productive cough,HPO,phenotype,PHENOTYPE_14090
14091,14091,14091,14091,14091,14091,14091,14091,2636,Dilatation of an abdominal artery,HPO,phenotype,PHENOTYPE_14091
14092,14092,14092,14092,14092,14092,14092,14092,9694,Small thumb epiphysis,HPO,phenotype,PHENOTYPE_14092
14093,14093,14093,14093,14093,14093,14093,14093,11254,Type II cryptotia,HPO,phenotype,PHENOTYPE_14093
14094,14094,14094,14094,14094,14094,14094,14094,7892,Hypoplasia of the lacrimal punctum,HPO,phenotype,PHENOTYPE_14094
14095,14095,14095,14095,14095,14095,14095,14095,32219,Increased proportion of CD4-positive T cells,HPO,phenotype,PHENOTYPE_14095
14096,14096,14096,14096,14096,14096,14096,14096,25274,Ovarian dermoid cyst,HPO,phenotype,PHENOTYPE_14096
14097,14097,14097,14097,14097,14097,14097,14097,7385,Aplasia cutis congenita of scalp,HPO,phenotype,PHENOTYPE_14097
14098,14098,14098,14098,14098,14098,14098,14098,6000046,Pulsus paradoxus,HPO,phenotype,PHENOTYPE_14098
14099,14099,14099,14099,14099,14099,14099,14099,32100,Abnormal doll's eye reflex,HPO,phenotype,PHENOTYPE_14099
14100,14100,14100,14100,14100,14100,14100,14100,7799,Conjunctival whitish salt-like deposits,HPO,phenotype,PHENOTYPE_14100
14101,14101,14101,14101,14101,14101,14101,14101,30486,Abnormal timing of pattern electroretinogram,HPO,phenotype,PHENOTYPE_14101
14102,14102,14102,14102,14102,14102,14102,14102,33527,Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio,HPO,phenotype,PHENOTYPE_14102
14103,14103,14103,14103,14103,14103,14103,14103,5136,Mitral annular calcification,HPO,phenotype,PHENOTYPE_14103
14104,14104,14104,14104,14104,14104,14104,14104,5947,Decreased sensitivity to hypoxemia,HPO,phenotype,PHENOTYPE_14104
14105,14105,14105,14105,14105,14105,14105,14105,32603,Renal tubular epithelial cell simplification,HPO,phenotype,PHENOTYPE_14105
14106,14106,14106,14106,14106,14106,14106,14106,12297,Slender proximal phalanx of finger,HPO,phenotype,PHENOTYPE_14106
14107,14107,14107,14107,14107,14107,14107,14107,34165,Reduced circulating interleukin 21 concentration,HPO,phenotype,PHENOTYPE_14107
14108,14108,14108,14108,14108,14108,14108,14108,100889,Abnormal ductus choledochus morphology,HPO,phenotype,PHENOTYPE_14108
14109,14109,14109,14109,14109,14109,14109,14109,9955,Partial duplication of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_14109
14110,14110,14110,14110,14110,14110,14110,14110,2385,Paraparesis,HPO,phenotype,PHENOTYPE_14110
14111,14111,14111,14111,14111,14111,14111,14111,410306,Partial absence of specific antibody response to meningococcus vaccine,HPO,phenotype,PHENOTYPE_14111
14112,14112,14112,14112,14112,14112,14112,14112,100649,Neoplasm of the oral cavity,HPO,phenotype,PHENOTYPE_14112
14113,14113,14113,14113,14113,14113,14113,14113,1805,Onychogryphosis,HPO,phenotype,PHENOTYPE_14113
14114,14114,14114,14114,14114,14114,14114,14114,6391,Overtubulated long bones,HPO,phenotype,PHENOTYPE_14114
14115,14115,14115,14115,14115,14115,14115,14115,33203,Brachioradialis hyperreflexia,HPO,phenotype,PHENOTYPE_14115
14116,14116,14116,14116,14116,14116,14116,14116,4835,Microspherocytosis,HPO,phenotype,PHENOTYPE_14116
14117,14117,14117,14117,14117,14117,14117,14117,30234,Highly elevated creatine kinase,HPO,phenotype,PHENOTYPE_14117
14118,14118,14118,14118,14118,14118,14118,14118,8127,Bipartite calcaneus,HPO,phenotype,PHENOTYPE_14118
14119,14119,14119,14119,14119,14119,14119,14119,34724,Reduced CSF cystine concentration,HPO,phenotype,PHENOTYPE_14119
14120,14120,14120,14120,14120,14120,14120,14120,5200424,Delusional perception,HPO,phenotype,PHENOTYPE_14120
14121,14121,14121,14121,14121,14121,14121,14121,31973,Increased vertical cup-to-disc ratio,HPO,phenotype,PHENOTYPE_14121
14122,14122,14122,14122,14122,14122,14122,14122,5200322,Amplification of emotional expression,HPO,phenotype,PHENOTYPE_14122
14123,14123,14123,14123,14123,14123,14123,14123,9906,Aplasia/Hypoplasia of the earlobes,HPO,phenotype,PHENOTYPE_14123
14124,14124,14124,14124,14124,14124,14124,14124,33929,Arcuate artery endoarterial neutrophil hypercellularity,HPO,phenotype,PHENOTYPE_14124
14125,14125,14125,14125,14125,14125,14125,14125,25583,Tapetal-like fundal reflex,HPO,phenotype,PHENOTYPE_14125
14126,14126,14126,14126,14126,14126,14126,14126,32502,Exacerbated by barbiturate exposure,HPO,phenotype,PHENOTYPE_14126
14127,14127,14127,14127,14127,14127,14127,14127,1058,Poor wound healing,HPO,phenotype,PHENOTYPE_14127
14128,14128,14128,14128,14128,14128,14128,14128,100898,Connective tissue nevi,HPO,phenotype,PHENOTYPE_14128
14129,14129,14129,14129,14129,14129,14129,14129,10348,Broad phalanges of the 2nd toe,HPO,phenotype,PHENOTYPE_14129
14130,14130,14130,14130,14130,14130,14130,14130,12420,Meconium stained amniotic fluid,HPO,phenotype,PHENOTYPE_14130
14131,14131,14131,14131,14131,14131,14131,14131,32571,Increased oocyte death,HPO,phenotype,PHENOTYPE_14131
14132,14132,14132,14132,14132,14132,14132,14132,25634,Abnormal ureter physiology,HPO,phenotype,PHENOTYPE_14132
14133,14133,14133,14133,14133,14133,14133,14133,472,Long neck,HPO,phenotype,PHENOTYPE_14133
14134,14134,14134,14134,14134,14134,14134,14134,4288,Pseudoepiphyses of hand bones,HPO,phenotype,PHENOTYPE_14134
14135,14135,14135,14135,14135,14135,14135,14135,33750,Reduced functional residual capacity,HPO,phenotype,PHENOTYPE_14135
14136,14136,14136,14136,14136,14136,14136,14136,7770,Hypoplasia of the retina,HPO,phenotype,PHENOTYPE_14136
14137,14137,14137,14137,14137,14137,14137,14137,6001015,Anti-HLA-DQ antibody positivity,HPO,phenotype,PHENOTYPE_14137
14138,14138,14138,14138,14138,14138,14138,14138,8765,Auditory hallucination,HPO,phenotype,PHENOTYPE_14138
14139,14139,14139,14139,14139,14139,14139,14139,32874,Focal impaired awareness cognitive seizure with auditory agnosia,HPO,phenotype,PHENOTYPE_14139
14140,14140,14140,14140,14140,14140,14140,14140,45034,Elevated urinary 3-aminoisobutyric acid,HPO,phenotype,PHENOTYPE_14140
14141,14141,14141,14141,14141,14141,14141,14141,3455,Elevated circulating long chain fatty acid concentration,HPO,phenotype,PHENOTYPE_14141
14142,14142,14142,14142,14142,14142,14142,14142,30366,Delivery by Odon device,HPO,phenotype,PHENOTYPE_14142
14143,14143,14143,14143,14143,14143,14143,14143,34792,Decreased muscle succinate dehydrogenase staining,HPO,phenotype,PHENOTYPE_14143
14144,14144,14144,14144,14144,14144,14144,14144,33002,Bronchial papilloma,HPO,phenotype,PHENOTYPE_14144
14145,14145,14145,14145,14145,14145,14145,14145,430064,Anti-Epstein-Barr virus-specific antibody positivity,HPO,phenotype,PHENOTYPE_14145
14146,14146,14146,14146,14146,14146,14146,14146,100710,Impulsivity,HPO,phenotype,PHENOTYPE_14146
14147,14147,14147,14147,14147,14147,14147,14147,30640,Complete congenital stationary night blindness,HPO,phenotype,PHENOTYPE_14147
14148,14148,14148,14148,14148,14148,14148,14148,4405,Prominent nipples,HPO,phenotype,PHENOTYPE_14148
14149,14149,14149,14149,14149,14149,14149,14149,25506,Coronary artery sandwich anomaly,HPO,phenotype,PHENOTYPE_14149
14150,14150,14150,14150,14150,14150,14150,14150,11636,Abnormal coronary artery origin,HPO,phenotype,PHENOTYPE_14150
14151,14151,14151,14151,14151,14151,14151,14151,11879,Decreased platelet glycoprotein Ib-IX-V,HPO,phenotype,PHENOTYPE_14151
14152,14152,14152,14152,14152,14152,14152,14152,12862,Abnormal germ cell morphology,HPO,phenotype,PHENOTYPE_14152
14153,14153,14153,14153,14153,14153,14153,14153,33625,Emotional insecurity,HPO,phenotype,PHENOTYPE_14153
14154,14154,14154,14154,14154,14154,14154,14154,4634,Cuboid-shaped vertebral bodies,HPO,phenotype,PHENOTYPE_14154
14155,14155,14155,14155,14155,14155,14155,14155,749,Paroxysmal bursts of laughter,HPO,phenotype,PHENOTYPE_14155
14156,14156,14156,14156,14156,14156,14156,14156,10462,Aplasia/Hypoplasia of the ovary,HPO,phenotype,PHENOTYPE_14156
14157,14157,14157,14157,14157,14157,14157,14157,30485,Abnormal amplitude of pattern electroretinogram,HPO,phenotype,PHENOTYPE_14157
14158,14158,14158,14158,14158,14158,14158,14158,32276,Prominent subcalcaneal fat pad,HPO,phenotype,PHENOTYPE_14158
14159,14159,14159,14159,14159,14159,14159,14159,32783,Focal aware autonomic seizure with piloerection,HPO,phenotype,PHENOTYPE_14159
14160,14160,14160,14160,14160,14160,14160,14160,500081,Pseudophakia,HPO,phenotype,PHENOTYPE_14160
14161,14161,14161,14161,14161,14161,14161,14161,6001161,Poor R-wave progression,HPO,phenotype,PHENOTYPE_14161
14162,14162,14162,14162,14162,14162,14162,14162,6001145,Pain at the posterior aspect of the knee,HPO,phenotype,PHENOTYPE_14162
14163,14163,14163,14163,14163,14163,14163,14163,6000433,Elevated urinary butyric acid level,HPO,phenotype,PHENOTYPE_14163
14164,14164,14164,14164,14164,14164,14164,14164,5200411,Gustatory agnosia,HPO,phenotype,PHENOTYPE_14164
14165,14165,14165,14165,14165,14165,14165,14165,6615,Absent in utero rib ossification,HPO,phenotype,PHENOTYPE_14165
14166,14166,14166,14166,14166,14166,14166,14166,10889,Morbus Kienboeck,HPO,phenotype,PHENOTYPE_14166
14167,14167,14167,14167,14167,14167,14167,14167,11395,Aplasia/Hypoplasia of the cochlea,HPO,phenotype,PHENOTYPE_14167
14168,14168,14168,14168,14168,14168,14168,14168,1082,Cholecystitis,HPO,phenotype,PHENOTYPE_14168
14169,14169,14169,14169,14169,14169,14169,14169,500007,Iris flocculi,HPO,phenotype,PHENOTYPE_14169
14170,14170,14170,14170,14170,14170,14170,14170,12335,Abnormality of folate metabolism,HPO,phenotype,PHENOTYPE_14170
14171,14171,14171,14171,14171,14171,14171,14171,31370,Small intestinal perforation,HPO,phenotype,PHENOTYPE_14171
14172,14172,14172,14172,14172,14172,14172,14172,2875,Exertional dyspnea,HPO,phenotype,PHENOTYPE_14172
14173,14173,14173,14173,14173,14173,14173,14173,33950,Cortical radial artery intraluminal thrombi,HPO,phenotype,PHENOTYPE_14173
14174,14174,14174,14174,14174,14174,14174,14174,5363,Humoral immunodeficiency,HPO,phenotype,PHENOTYPE_14174
14175,14175,14175,14175,14175,14175,14175,14175,3881,Humeral sclerosis,HPO,phenotype,PHENOTYPE_14175
14176,14176,14176,14176,14176,14176,14176,14176,6001184,Filamentary keratitis,HPO,phenotype,PHENOTYPE_14176
14177,14177,14177,14177,14177,14177,14177,14177,11130,Abnormal renal calyx morphology,HPO,phenotype,PHENOTYPE_14177
14178,14178,14178,14178,14178,14178,14178,14178,1917,Renal amyloidosis,HPO,phenotype,PHENOTYPE_14178
14179,14179,14179,14179,14179,14179,14179,14179,2967,Cubitus valgus,HPO,phenotype,PHENOTYPE_14179
14180,14180,14180,14180,14180,14180,14180,14180,32495,Abnormal terminal:vellus ratio,HPO,phenotype,PHENOTYPE_14180
14181,14181,14181,14181,14181,14181,14181,14181,3834,Shoulder dislocation,HPO,phenotype,PHENOTYPE_14181
14182,14182,14182,14182,14182,14182,14182,14182,5112,Abdominal aortic aneurysm,HPO,phenotype,PHENOTYPE_14182
14183,14183,14183,14183,14183,14183,14183,14183,3855,Spurred metaphyses of the upper limbs,HPO,phenotype,PHENOTYPE_14183
14184,14184,14184,14184,14184,14184,14184,14184,7397,Axillary apocrine gland hypoplasia,HPO,phenotype,PHENOTYPE_14184
14185,14185,14185,14185,14185,14185,14185,14185,100923,Clavicular sclerosis,HPO,phenotype,PHENOTYPE_14185
14186,14186,14186,14186,14186,14186,14186,14186,3657,Vascular granular osmiophilic material deposition,HPO,phenotype,PHENOTYPE_14186
14187,14187,14187,14187,14187,14187,14187,14187,100073,Pseudoepiphyses of the 4th toe,HPO,phenotype,PHENOTYPE_14187
14188,14188,14188,14188,14188,14188,14188,14188,10813,Abnormal number of hair whorls,HPO,phenotype,PHENOTYPE_14188
14189,14189,14189,14189,14189,14189,14189,14189,30280,Rib gap,HPO,phenotype,PHENOTYPE_14189
14190,14190,14190,14190,14190,14190,14190,14190,40330,Confluent hyperintensity of cerebral white matter on MRI,HPO,phenotype,PHENOTYPE_14190
14191,14191,14191,14191,14191,14191,14191,14191,34940,Muscle fiber calsequestrin 1-containing inclusion bodies,HPO,phenotype,PHENOTYPE_14191
14192,14192,14192,14192,14192,14192,14192,14192,25495,Descending aorta hypoplasia,HPO,phenotype,PHENOTYPE_14192
14193,14193,14193,14193,14193,14193,14193,14193,4000118,Hydralazine exposure,HPO,phenotype,PHENOTYPE_14193
14194,14194,14194,14194,14194,14194,14194,14194,11134,Low-grade fever,HPO,phenotype,PHENOTYPE_14194
14195,14195,14195,14195,14195,14195,14195,14195,3000067,Abnormal lateral cricoarytenoid muscle morphology,HPO,phenotype,PHENOTYPE_14195
14196,14196,14196,14196,14196,14196,14196,14196,430066,Anti-Zikavirus-specific antibody positivity,HPO,phenotype,PHENOTYPE_14196
14197,14197,14197,14197,14197,14197,14197,14197,20237,Lymph-node capsular invasion by lymphocytes,HPO,phenotype,PHENOTYPE_14197
14198,14198,14198,14198,14198,14198,14198,14198,100798,Fingernail dysplasia,HPO,phenotype,PHENOTYPE_14198
14199,14199,14199,14199,14199,14199,14199,14199,5200012,Abnormal speech rhythm,HPO,phenotype,PHENOTYPE_14199
14200,14200,14200,14200,14200,14200,14200,14200,11396,Abnormality of the cochlear nerve,HPO,phenotype,PHENOTYPE_14200
14201,14201,14201,14201,14201,14201,14201,14201,40276,Adenocarcinoma of the colon,HPO,phenotype,PHENOTYPE_14201
14202,14202,14202,14202,14202,14202,14202,14202,25158,Hyperautofluorescent retinal lesion,HPO,phenotype,PHENOTYPE_14202
14203,14203,14203,14203,14203,14203,14203,14203,500099,Hair xenobiotic,HPO,phenotype,PHENOTYPE_14203
14204,14204,14204,14204,14204,14204,14204,14204,824,Decreased response to growth hormone stimulation test,HPO,phenotype,PHENOTYPE_14204
14205,14205,14205,14205,14205,14205,14205,14205,3113,Hypochloremia,HPO,phenotype,PHENOTYPE_14205
14206,14206,14206,14206,14206,14206,14206,14206,11965,Abnormal circulating citrulline concentration,HPO,phenotype,PHENOTYPE_14206
14207,14207,14207,14207,14207,14207,14207,14207,6000903,Anti-mumps antibody positivity,HPO,phenotype,PHENOTYPE_14207
14208,14208,14208,14208,14208,14208,14208,14208,6109,Absent phalangeal crease,HPO,phenotype,PHENOTYPE_14208
14209,14209,14209,14209,14209,14209,14209,14209,10610,Palmar pits,HPO,phenotype,PHENOTYPE_14209
14210,14210,14210,14210,14210,14210,14210,14210,40277,Neoplasm of the pituitary gland,HPO,phenotype,PHENOTYPE_14210
14211,14211,14211,14211,14211,14211,14211,14211,32937,"Recurrent, involuntary, and intrusive distressing memories",HPO,phenotype,PHENOTYPE_14211
14212,14212,14212,14212,14212,14212,14212,14212,100881,Congenital mesoblastic nephroma,HPO,phenotype,PHENOTYPE_14212
14213,14213,14213,14213,14213,14213,14213,14213,12743,Abdominal obesity,HPO,phenotype,PHENOTYPE_14213
14214,14214,14214,14214,14214,14214,14214,14214,8165,Decreased helper T cell proportion,HPO,phenotype,PHENOTYPE_14214
14215,14215,14215,14215,14215,14215,14215,14215,12314,Bouchard node,HPO,phenotype,PHENOTYPE_14215
14216,14216,14216,14216,14216,14216,14216,14216,980,Pallor,HPO,phenotype,PHENOTYPE_14216
14217,14217,14217,14217,14217,14217,14217,14217,10868,Ocular dyssynergia,HPO,phenotype,PHENOTYPE_14217
14218,14218,14218,14218,14218,14218,14218,14218,11137,Non-pruritic urticaria,HPO,phenotype,PHENOTYPE_14218
14219,14219,14219,14219,14219,14219,14219,14219,5387,Combined immunodeficiency,HPO,phenotype,PHENOTYPE_14219
14220,14220,14220,14220,14220,14220,14220,14220,410371,Increased hepatitis C virus antibody level,HPO,phenotype,PHENOTYPE_14220
14221,14221,14221,14221,14221,14221,14221,14221,3000040,Abnormality of ethmoid sinus,HPO,phenotype,PHENOTYPE_14221
14222,14222,14222,14222,14222,14222,14222,14222,33227,Glomerular synechial adhesion,HPO,phenotype,PHENOTYPE_14222
14223,14223,14223,14223,14223,14223,14223,14223,32184,Increased proportion of memory T cells,HPO,phenotype,PHENOTYPE_14223
14224,14224,14224,14224,14224,14224,14224,14224,31826,Abnormal reflex,HPO,phenotype,PHENOTYPE_14224
14225,14225,14225,14225,14225,14225,14225,14225,2834,Flared femoral metaphysis,HPO,phenotype,PHENOTYPE_14225
14226,14226,14226,14226,14226,14226,14226,14226,5202,Helicobacter pylori infection,HPO,phenotype,PHENOTYPE_14226
14227,14227,14227,14227,14227,14227,14227,14227,31017,Swiss cheese atrial septal defect,HPO,phenotype,PHENOTYPE_14227
14228,14228,14228,14228,14228,14228,14228,14228,9483,Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal,HPO,phenotype,PHENOTYPE_14228
14229,14229,14229,14229,14229,14229,14229,14229,31834,Aortopulmonary collateral arteries,HPO,phenotype,PHENOTYPE_14229
14230,14230,14230,14230,14230,14230,14230,14230,11902,Abnormal hemoglobin,HPO,phenotype,PHENOTYPE_14230
14231,14231,14231,14231,14231,14231,14231,14231,31904,Abnormal total hemolytic complement activity,HPO,phenotype,PHENOTYPE_14231
14232,14232,14232,14232,14232,14232,14232,14232,10483,Amniotic constriction rings of arms,HPO,phenotype,PHENOTYPE_14232
14233,14233,14233,14233,14233,14233,14233,14233,10104,Absent first metatarsal,HPO,phenotype,PHENOTYPE_14233
14234,14234,14234,14234,14234,14234,14234,14234,32144,Coffee ground vomitus,HPO,phenotype,PHENOTYPE_14234
14235,14235,14235,14235,14235,14235,14235,14235,40098,Basalioma of the outer ear,HPO,phenotype,PHENOTYPE_14235
14236,14236,14236,14236,14236,14236,14236,14236,6000104,Twin pregnancy,HPO,phenotype,PHENOTYPE_14236
14237,14237,14237,14237,14237,14237,14237,14237,6879,Pontocerebellar atrophy,HPO,phenotype,PHENOTYPE_14237
14238,14238,14238,14238,14238,14238,14238,14238,100293,Hypertrophied muscle fibers,HPO,phenotype,PHENOTYPE_14238
14239,14239,14239,14239,14239,14239,14239,14239,9437,Aplasia/Hypoplasia of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_14239
14240,14240,14240,14240,14240,14240,14240,14240,12588,Steroid-resistant nephrotic syndrome,HPO,phenotype,PHENOTYPE_14240
14241,14241,14241,14241,14241,14241,14241,14241,6000201,Reduced hepatic glucose-6-phosphate translocase activity,HPO,phenotype,PHENOTYPE_14241
14242,14242,14242,14242,14242,14242,14242,14242,7266,Cerebral dysmyelination,HPO,phenotype,PHENOTYPE_14242
14243,14243,14243,14243,14243,14243,14243,14243,4000176,Aggravated by exposure to medication,HPO,phenotype,PHENOTYPE_14243
14244,14244,14244,14244,14244,14244,14244,14244,34895,Elevated brain gamma-aminobutyric acid by MRS,HPO,phenotype,PHENOTYPE_14244
14245,14245,14245,14245,14245,14245,14245,14245,12302,Herpes simplex encephalitis,HPO,phenotype,PHENOTYPE_14245
14246,14246,14246,14246,14246,14246,14246,14246,11214,EEG with photoparoxysmal response grade IV,HPO,phenotype,PHENOTYPE_14246
14247,14247,14247,14247,14247,14247,14247,14247,1975,Decreased platelet glycoprotein IIb-IIIa,HPO,phenotype,PHENOTYPE_14247
14248,14248,14248,14248,14248,14248,14248,14248,415,Abnormal choanae morphology,HPO,phenotype,PHENOTYPE_14248
14249,14249,14249,14249,14249,14249,14249,14249,6000193,Anti-osteoprotegerin antibody positivity,HPO,phenotype,PHENOTYPE_14249
14250,14250,14250,14250,14250,14250,14250,14250,5162,Abnormal left ventricular function,HPO,phenotype,PHENOTYPE_14250
14251,14251,14251,14251,14251,14251,14251,14251,2814,Abnormality of the lower limb,HPO,phenotype,PHENOTYPE_14251
14252,14252,14252,14252,14252,14252,14252,14252,25594,Superior oblique muscle overaction,HPO,phenotype,PHENOTYPE_14252
14253,14253,14253,14253,14253,14253,14253,14253,34902,Abnormal circulating calcitonin concentration,HPO,phenotype,PHENOTYPE_14253
14254,14254,14254,14254,14254,14254,14254,14254,34755,Ameliorated by NSAID,HPO,phenotype,PHENOTYPE_14254
14255,14255,14255,14255,14255,14255,14255,14255,6208,Metaphyseal cupping of proximal phalanges,HPO,phenotype,PHENOTYPE_14255
14256,14256,14256,14256,14256,14256,14256,14256,9162,Absent middle phalanx of 5th finger,HPO,phenotype,PHENOTYPE_14256
14257,14257,14257,14257,14257,14257,14257,14257,33154,Elevated circulating deoxypyridinoline concentration,HPO,phenotype,PHENOTYPE_14257
14258,14258,14258,14258,14258,14258,14258,14258,32741,Focal aware emotional seizure with paranoia,HPO,phenotype,PHENOTYPE_14258
14259,14259,14259,14259,14259,14259,14259,14259,34405,Enlarged tectum,HPO,phenotype,PHENOTYPE_14259
14260,14260,14260,14260,14260,14260,14260,14260,32218,Decreased proportion of CD4-positive T cells,HPO,phenotype,PHENOTYPE_14260
14261,14261,14261,14261,14261,14261,14261,14261,31514,Increased proportion of exhausted T cells,HPO,phenotype,PHENOTYPE_14261
14262,14262,14262,14262,14262,14262,14262,14262,33431,Cytomegalovirus colitis,HPO,phenotype,PHENOTYPE_14262
14263,14263,14263,14263,14263,14263,14263,14263,34488,Increased circulating interleukin 13 concentration,HPO,phenotype,PHENOTYPE_14263
14264,14264,14264,14264,14264,14264,14264,14264,7928,Abnormal flash visual evoked potentials,HPO,phenotype,PHENOTYPE_14264
14265,14265,14265,14265,14265,14265,14265,14265,6423,Peg-like central prominence of distal tibial metaphyses,HPO,phenotype,PHENOTYPE_14265
14266,14266,14266,14266,14266,14266,14266,14266,12417,Hypocapnia,HPO,phenotype,PHENOTYPE_14266
14267,14267,14267,14267,14267,14267,14267,14267,430147,Abnormal circulating inhibin B concentration,HPO,phenotype,PHENOTYPE_14267
14268,14268,14268,14268,14268,14268,14268,14268,33719,EEG with parietal epileptiform discharges,HPO,phenotype,PHENOTYPE_14268
14269,14269,14269,14269,14269,14269,14269,14269,6000948,Hemimelia of forearm,HPO,phenotype,PHENOTYPE_14269
14270,14270,14270,14270,14270,14270,14270,14270,25678,Fetal hydrothorax,HPO,phenotype,PHENOTYPE_14270
14271,14271,14271,14271,14271,14271,14271,14271,31142,Abnormal hepatic echogenicity,HPO,phenotype,PHENOTYPE_14271
14272,14272,14272,14272,14272,14272,14272,14272,6000158,Unesterified cholesterol accumulation in cultured fibroblasts,HPO,phenotype,PHENOTYPE_14272
14273,14273,14273,14273,14273,14273,14273,14273,100675,Vaginal pyocele,HPO,phenotype,PHENOTYPE_14273
14274,14274,14274,14274,14274,14274,14274,14274,30274,Accessory scrotum,HPO,phenotype,PHENOTYPE_14274
14275,14275,14275,14275,14275,14275,14275,14275,1495,Carpal osteolysis,HPO,phenotype,PHENOTYPE_14275
14276,14276,14276,14276,14276,14276,14276,14276,12693,Abnormal thalamic size,HPO,phenotype,PHENOTYPE_14276
14277,14277,14277,14277,14277,14277,14277,14277,34426,Chromhidrosis,HPO,phenotype,PHENOTYPE_14277
14278,14278,14278,14278,14278,14278,14278,14278,34052,Impaired toe-walking ability,HPO,phenotype,PHENOTYPE_14278
14279,14279,14279,14279,14279,14279,14279,14279,11059,Localized periodontitis,HPO,phenotype,PHENOTYPE_14279
14280,14280,14280,14280,14280,14280,14280,14280,410389,"Decreased proportion of central memory CD8-positive, alpha-beta T cells",HPO,phenotype,PHENOTYPE_14280
14281,14281,14281,14281,14281,14281,14281,14281,11026,Aplasia/Hypoplasia of the vagina,HPO,phenotype,PHENOTYPE_14281
14282,14282,14282,14282,14282,14282,14282,14282,31665,Midsystolic murmur,HPO,phenotype,PHENOTYPE_14282
14283,14283,14283,14283,14283,14283,14283,14283,10185,Aplasia/Hypoplasia of the distal phalanges of the toes,HPO,phenotype,PHENOTYPE_14283
14284,14284,14284,14284,14284,14284,14284,14284,6000532,Elevated urinary histamine level,HPO,phenotype,PHENOTYPE_14284
14285,14285,14285,14285,14285,14285,14285,14285,6000641,Bone marrow monocytosis,HPO,phenotype,PHENOTYPE_14285
14286,14286,14286,14286,14286,14286,14286,14286,8402,Ridged fingernail,HPO,phenotype,PHENOTYPE_14286
14287,14287,14287,14287,14287,14287,14287,14287,10910,Hypervalinemia,HPO,phenotype,PHENOTYPE_14287
14288,14288,14288,14288,14288,14288,14288,14288,290,Abnormal forehead morphology,HPO,phenotype,PHENOTYPE_14288
14289,14289,14289,14289,14289,14289,14289,14289,6311,Generalized microdontia,HPO,phenotype,PHENOTYPE_14289
14290,14290,14290,14290,14290,14290,14290,14290,30801,Reduced visual accommodation,HPO,phenotype,PHENOTYPE_14290
14291,14291,14291,14291,14291,14291,14291,14291,59,Hypoplastic labia majora,HPO,phenotype,PHENOTYPE_14291
14292,14292,14292,14292,14292,14292,14292,14292,1017,Anemic pallor,HPO,phenotype,PHENOTYPE_14292
14293,14293,14293,14293,14293,14293,14293,14293,9482,Proximal/middle symphalangism of 3rd finger,HPO,phenotype,PHENOTYPE_14293
14294,14294,14294,14294,14294,14294,14294,14294,10024,Epiphyseal stippling of the first metacarpal,HPO,phenotype,PHENOTYPE_14294
14295,14295,14295,14295,14295,14295,14295,14295,6000476,Elevated circulating tetradecenoylcarnitine concentration,HPO,phenotype,PHENOTYPE_14295
14296,14296,14296,14296,14296,14296,14296,14296,3791,Deposits immunoreactive to beta-amyloid protein,HPO,phenotype,PHENOTYPE_14296
14297,14297,14297,14297,14297,14297,14297,14297,11136,Aplasia of the sweat glands,HPO,phenotype,PHENOTYPE_14297
14298,14298,14298,14298,14298,14298,14298,14298,30223,Perseverative thought,HPO,phenotype,PHENOTYPE_14298
14299,14299,14299,14299,14299,14299,14299,14299,9119,Aplasia/Hypoplasia of the frontal sinuses,HPO,phenotype,PHENOTYPE_14299
14300,14300,14300,14300,14300,14300,14300,14300,7642,Congenital stationary night blindness,HPO,phenotype,PHENOTYPE_14300
14301,14301,14301,14301,14301,14301,14301,14301,8435,Absent in utero ossification of vertebral bodies,HPO,phenotype,PHENOTYPE_14301
14302,14302,14302,14302,14302,14302,14302,14302,34841,Gastrointestinal granulomatosis,HPO,phenotype,PHENOTYPE_14302
14303,14303,14303,14303,14303,14303,14303,14303,11313,Narrow nail,HPO,phenotype,PHENOTYPE_14303
14304,14304,14304,14304,14304,14304,14304,14304,500251,Abnormal urine sebacic acid concentration,HPO,phenotype,PHENOTYPE_14304
14305,14305,14305,14305,14305,14305,14305,14305,2990,Fibular aplasia,HPO,phenotype,PHENOTYPE_14305
14306,14306,14306,14306,14306,14306,14306,14306,32061,Hypereosinophilia,HPO,phenotype,PHENOTYPE_14306
14307,14307,14307,14307,14307,14307,14307,14307,6000069,Brief tear break-up time,HPO,phenotype,PHENOTYPE_14307
14308,14308,14308,14308,14308,14308,14308,14308,30665,Rubral tremor,HPO,phenotype,PHENOTYPE_14308
14309,14309,14309,14309,14309,14309,14309,14309,6000823,Elevated CSF 5-hydroxyindoleacetic acid concentration,HPO,phenotype,PHENOTYPE_14309
14310,14310,14310,14310,14310,14310,14310,14310,34172,Increased circulating interleukin 23 concentration,HPO,phenotype,PHENOTYPE_14310
14311,14311,14311,14311,14311,14311,14311,14311,500155,Abnormal circulating asparagine concentration,HPO,phenotype,PHENOTYPE_14311
14312,14312,14312,14312,14312,14312,14312,14312,8070,Sparse hair,HPO,phenotype,PHENOTYPE_14312
14313,14313,14313,14313,14313,14313,14313,14313,11174,Focal hyperkinetic seizure,HPO,phenotype,PHENOTYPE_14313
14314,14314,14314,14314,14314,14314,14314,14314,10609,Skin tags,HPO,phenotype,PHENOTYPE_14314
14315,14315,14315,14315,14315,14315,14315,14315,100854,Aplasia of the musculature,HPO,phenotype,PHENOTYPE_14315
14316,14316,14316,14316,14316,14316,14316,14316,10301,Spinal dysraphism,HPO,phenotype,PHENOTYPE_14316
14317,14317,14317,14317,14317,14317,14317,14317,12107,Increased fibular diameter,HPO,phenotype,PHENOTYPE_14317
14318,14318,14318,14318,14318,14318,14318,14318,9187,Bracket epiphysis of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_14318
14319,14319,14319,14319,14319,14319,14319,14319,410285,Positive meconium methadone test,HPO,phenotype,PHENOTYPE_14319
14320,14320,14320,14320,14320,14320,14320,14320,2254,Intermittent diarrhea,HPO,phenotype,PHENOTYPE_14320
14321,14321,14321,14321,14321,14321,14321,14321,40275,Adenocarcinoma of the large intestine,HPO,phenotype,PHENOTYPE_14321
14322,14322,14322,14322,14322,14322,14322,14322,430031,Aqueous humor viral DNA positivity,HPO,phenotype,PHENOTYPE_14322
14323,14323,14323,14323,14323,14323,14323,14323,3643,Sulfite oxidase deficiency,HPO,phenotype,PHENOTYPE_14323
14324,14324,14324,14324,14324,14324,14324,14324,7939,Blue cone monochromacy,HPO,phenotype,PHENOTYPE_14324
14325,14325,14325,14325,14325,14325,14325,14325,9857,Symphalangism affecting the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_14325
14326,14326,14326,14326,14326,14326,14326,14326,6598,Irregular ossification at anterior rib ends,HPO,phenotype,PHENOTYPE_14326
14327,14327,14327,14327,14327,14327,14327,14327,30580,Pinhole visual acuity 1.2 LogMAR,HPO,phenotype,PHENOTYPE_14327
14328,14328,14328,14328,14328,14328,14328,14328,34578,Reduced epidermal collagen XVII protein expression,HPO,phenotype,PHENOTYPE_14328
14329,14329,14329,14329,14329,14329,14329,14329,6000452,Gallbladder adhesions,HPO,phenotype,PHENOTYPE_14329
14330,14330,14330,14330,14330,14330,14330,14330,30097,Absent muscle dystrophin expression,HPO,phenotype,PHENOTYPE_14330
14331,14331,14331,14331,14331,14331,14331,14331,500236,Increased CSF histidine concentration,HPO,phenotype,PHENOTYPE_14331
14332,14332,14332,14332,14332,14332,14332,14332,6549,Unilateral primary pulmonary dysgenesis,HPO,phenotype,PHENOTYPE_14332
14333,14333,14333,14333,14333,14333,14333,14333,30148,Heart murmur,HPO,phenotype,PHENOTYPE_14333
14334,14334,14334,14334,14334,14334,14334,14334,31933,Aorto-right ventricular tunnel,HPO,phenotype,PHENOTYPE_14334
14335,14335,14335,14335,14335,14335,14335,14335,10274,Ivory epiphyses of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_14335
14336,14336,14336,14336,14336,14336,14336,14336,12658,Abnormal brain FDG positron emission tomography,HPO,phenotype,PHENOTYPE_14336
14337,14337,14337,14337,14337,14337,14337,14337,34884,Uterine cervix mass,HPO,phenotype,PHENOTYPE_14337
14338,14338,14338,14338,14338,14338,14338,14338,3286,Cystathioninemia,HPO,phenotype,PHENOTYPE_14338
14339,14339,14339,14339,14339,14339,14339,14339,34157,Anti-beta-2-Glycoprotein I IgM antibody positivity,HPO,phenotype,PHENOTYPE_14339
14340,14340,14340,14340,14340,14340,14340,14340,4320,Vaginal fistula,HPO,phenotype,PHENOTYPE_14340
14341,14341,14341,14341,14341,14341,14341,14341,6114,Multiple palmar creases,HPO,phenotype,PHENOTYPE_14341
14342,14342,14342,14342,14342,14342,14342,14342,11183,EEG with hyperventilation-induced focal epileptiform discharges,HPO,phenotype,PHENOTYPE_14342
14343,14343,14343,14343,14343,14343,14343,14343,3000077,Abnormal mandible condylar process morphology,HPO,phenotype,PHENOTYPE_14343
14344,14344,14344,14344,14344,14344,14344,14344,1341,Olfactory lobe agenesis,HPO,phenotype,PHENOTYPE_14344
14345,14345,14345,14345,14345,14345,14345,14345,34103,Anti-GM1 antibody positivity,HPO,phenotype,PHENOTYPE_14345
14346,14346,14346,14346,14346,14346,14346,14346,30765,Sleep terror,HPO,phenotype,PHENOTYPE_14346
14347,14347,14347,14347,14347,14347,14347,14347,10370,Abnormal morphology of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_14347
14348,14348,14348,14348,14348,14348,14348,14348,4361,Abnormal circulating leptin concentration,HPO,phenotype,PHENOTYPE_14348
14349,14349,14349,14349,14349,14349,14349,14349,12563,Premature epimetaphyseal fusion in foot,HPO,phenotype,PHENOTYPE_14349
14350,14350,14350,14350,14350,14350,14350,14350,6000250,Gastric intraepithelial lymphocytosis,HPO,phenotype,PHENOTYPE_14350
14351,14351,14351,14351,14351,14351,14351,14351,7446,Palmoplantar blistering,HPO,phenotype,PHENOTYPE_14351
14352,14352,14352,14352,14352,14352,14352,14352,20266,Hyalinized lymph-node vessels,HPO,phenotype,PHENOTYPE_14352
14353,14353,14353,14353,14353,14353,14353,14353,100463,Patchy sclerosis of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_14353
14354,14354,14354,14354,14354,14354,14354,14354,25575,Abnormal superior vena cava morphology,HPO,phenotype,PHENOTYPE_14354
14355,14355,14355,14355,14355,14355,14355,14355,10820,Focal emotional seizure with crying,HPO,phenotype,PHENOTYPE_14355
14356,14356,14356,14356,14356,14356,14356,14356,4871,Perineal fistula,HPO,phenotype,PHENOTYPE_14356
14357,14357,14357,14357,14357,14357,14357,14357,1695,Cardiac arrest,HPO,phenotype,PHENOTYPE_14357
14358,14358,14358,14358,14358,14358,14358,14358,20288,Abnormal lymph-node cellular B-cell marker expression,HPO,phenotype,PHENOTYPE_14358
14359,14359,14359,14359,14359,14359,14359,14359,3717,Minimal subcutaneous fat,HPO,phenotype,PHENOTYPE_14359
14360,14360,14360,14360,14360,14360,14360,14360,40053,Long lower eyelashes,HPO,phenotype,PHENOTYPE_14360
14361,14361,14361,14361,14361,14361,14361,14361,32873,Focal aware sensory seizure with cephalic sensation,HPO,phenotype,PHENOTYPE_14361
14362,14362,14362,14362,14362,14362,14362,14362,34268,Abnormal vaginal physiology,HPO,phenotype,PHENOTYPE_14362
14363,14363,14363,14363,14363,14363,14363,14363,30282,Posterior rib gap,HPO,phenotype,PHENOTYPE_14363
14364,14364,14364,14364,14364,14364,14364,14364,9641,Aplasia/Hypoplasia of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_14364
14365,14365,14365,14365,14365,14365,14365,14365,12704,Widened subarachnoid space,HPO,phenotype,PHENOTYPE_14365
14366,14366,14366,14366,14366,14366,14366,14366,1343,Kernicterus,HPO,phenotype,PHENOTYPE_14366
14367,14367,14367,14367,14367,14367,14367,14367,25518,Visual gaze preference,HPO,phenotype,PHENOTYPE_14367
14368,14368,14368,14368,14368,14368,14368,14368,25501,Class III obesity,HPO,phenotype,PHENOTYPE_14368
14369,14369,14369,14369,14369,14369,14369,14369,25765,Rubber-like lump,HPO,phenotype,PHENOTYPE_14369
14370,14370,14370,14370,14370,14370,14370,14370,6000495,Anti-factor IX antibody positivity,HPO,phenotype,PHENOTYPE_14370
14371,14371,14371,14371,14371,14371,14371,14371,41213,Fractured proximal phalanx of digit 4,HPO,phenotype,PHENOTYPE_14371
14372,14372,14372,14372,14372,14372,14372,14372,31496,Mucinous cystic neoplasm of the pancreas,HPO,phenotype,PHENOTYPE_14372
14373,14373,14373,14373,14373,14373,14373,14373,6000696,Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration,HPO,phenotype,PHENOTYPE_14373
14374,14374,14374,14374,14374,14374,14374,14374,10668,Abnormal zygomatic bone morphology,HPO,phenotype,PHENOTYPE_14374
14375,14375,14375,14375,14375,14375,14375,14375,100575,Neoplasm of the gallbladder,HPO,phenotype,PHENOTYPE_14375
14376,14376,14376,14376,14376,14376,14376,14376,500030,Abnormal hepatic glycogen storage,HPO,phenotype,PHENOTYPE_14376
14377,14377,14377,14377,14377,14377,14377,14377,723,Restrictive behavior,HPO,phenotype,PHENOTYPE_14377
14378,14378,14378,14378,14378,14378,14378,14378,6000521,Elevated circulating lipoprotein(a) concentration,HPO,phenotype,PHENOTYPE_14378
14379,14379,14379,14379,14379,14379,14379,14379,32234,Increased circulating creatine kinase MM isoform,HPO,phenotype,PHENOTYPE_14379
14380,14380,14380,14380,14380,14380,14380,14380,100899,Sclerosis of finger phalanx,HPO,phenotype,PHENOTYPE_14380
14381,14381,14381,14381,14381,14381,14381,14381,6257,Abnormality of carpal bone ossification,HPO,phenotype,PHENOTYPE_14381
14382,14382,14382,14382,14382,14382,14382,14382,32614,Renal glomerular amyloid deposition,HPO,phenotype,PHENOTYPE_14382
14383,14383,14383,14383,14383,14383,14383,14383,20240,Scattered lymph node individual epithelioid histiocytes,HPO,phenotype,PHENOTYPE_14383
14384,14384,14384,14384,14384,14384,14384,14384,9496,Small epiphyses of the 2nd finger,HPO,phenotype,PHENOTYPE_14384
14385,14385,14385,14385,14385,14385,14385,14385,32691,Focal cognitive seizure with dyscalculia/acalculia,HPO,phenotype,PHENOTYPE_14385
14386,14386,14386,14386,14386,14386,14386,14386,25433,Decreased lecithin cholesterol acyl transferase level,HPO,phenotype,PHENOTYPE_14386
14387,14387,14387,14387,14387,14387,14387,14387,3690,Limb muscle weakness,HPO,phenotype,PHENOTYPE_14387
14388,14388,14388,14388,14388,14388,14388,14388,10324,Abnormal morphology of phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_14388
14389,14389,14389,14389,14389,14389,14389,14389,11693,Supraventricular tachycardia with a concealed accessory pathway on the septum,HPO,phenotype,PHENOTYPE_14389
14390,14390,14390,14390,14390,14390,14390,14390,1563,Fetal polyuria,HPO,phenotype,PHENOTYPE_14390
14391,14391,14391,14391,14391,14391,14391,14391,3863,Angulated humerus,HPO,phenotype,PHENOTYPE_14391
14392,14392,14392,14392,14392,14392,14392,14392,32324,Non-periodic recurrent fever,HPO,phenotype,PHENOTYPE_14392
14393,14393,14393,14393,14393,14393,14393,14393,6000394,Elevated CSF ammonia concentration,HPO,phenotype,PHENOTYPE_14393
14394,14394,14394,14394,14394,14394,14394,14394,32993,Abnormal pulmonary fissure count,HPO,phenotype,PHENOTYPE_14394
14395,14395,14395,14395,14395,14395,14395,14395,32228,Trichodiscoma,HPO,phenotype,PHENOTYPE_14395
14396,14396,14396,14396,14396,14396,14396,14396,33940,Renal arteriole intima/media coagulative necrosis,HPO,phenotype,PHENOTYPE_14396
14397,14397,14397,14397,14397,14397,14397,14397,30069,Primary central nervous system lymphoma,HPO,phenotype,PHENOTYPE_14397
14398,14398,14398,14398,14398,14398,14398,14398,8473,Narrow anterio-posterior vertebral body diameter,HPO,phenotype,PHENOTYPE_14398
14399,14399,14399,14399,14399,14399,14399,14399,30303,Hypoplastic anterior commissure,HPO,phenotype,PHENOTYPE_14399
14400,14400,14400,14400,14400,14400,14400,14400,10515,Aplasia/Hypoplasia of the thymus,HPO,phenotype,PHENOTYPE_14400
14401,14401,14401,14401,14401,14401,14401,14401,33185,Triggered by EBV infection,HPO,phenotype,PHENOTYPE_14401
14402,14402,14402,14402,14402,14402,14402,14402,40318,Red urine,HPO,phenotype,PHENOTYPE_14402
14403,14403,14403,14403,14403,14403,14403,14403,1273,Abnormal corpus callosum morphology,HPO,phenotype,PHENOTYPE_14403
14404,14404,14404,14404,14404,14404,14404,14404,385,Small earlobe,HPO,phenotype,PHENOTYPE_14404
14405,14405,14405,14405,14405,14405,14405,14405,9174,Abnormality of the epiphyses of the 4th finger,HPO,phenotype,PHENOTYPE_14405
14406,14406,14406,14406,14406,14406,14406,14406,32968,Expiratory air trapping,HPO,phenotype,PHENOTYPE_14406
14407,14407,14407,14407,14407,14407,14407,14407,32945,Renal interstitial inflammation,HPO,phenotype,PHENOTYPE_14407
14408,14408,14408,14408,14408,14408,14408,14408,30103,Abnormal muscle fiber beta sarcoglycan,HPO,phenotype,PHENOTYPE_14408
14409,14409,14409,14409,14409,14409,14409,14409,8824,Hypoplastic iliac body,HPO,phenotype,PHENOTYPE_14409
14410,14410,14410,14410,14410,14410,14410,14410,31815,Abnormal oral physiology,HPO,phenotype,PHENOTYPE_14410
14411,14411,14411,14411,14411,14411,14411,14411,34082,Anti-bicaudal D2 antibody positivity,HPO,phenotype,PHENOTYPE_14411
14412,14412,14412,14412,14412,14412,14412,14412,11046,Agenesis of primary maxillary central incisor,HPO,phenotype,PHENOTYPE_14412
14413,14413,14413,14413,14413,14413,14413,14413,32158,Unusual infection by anatomical site,HPO,phenotype,PHENOTYPE_14413
14414,14414,14414,14414,14414,14414,14414,14414,3334,Elevated circulating catecholamine level,HPO,phenotype,PHENOTYPE_14414
14415,14415,14415,14415,14415,14415,14415,14415,25064,Thalamic hemorrhage,HPO,phenotype,PHENOTYPE_14415
14416,14416,14416,14416,14416,14416,14416,14416,5200407,Topographical agnosia,HPO,phenotype,PHENOTYPE_14416
14417,14417,14417,14417,14417,14417,14417,14417,34865,Positive fecal parasite test,HPO,phenotype,PHENOTYPE_14417
14418,14418,14418,14418,14418,14418,14418,14418,8670,Partial vaginal septum,HPO,phenotype,PHENOTYPE_14418
14419,14419,14419,14419,14419,14419,14419,14419,30271,"Reduced erythrocyte 2,3-diphosphoglycerate concentration",HPO,phenotype,PHENOTYPE_14419
14420,14420,14420,14420,14420,14420,14420,14420,2643,Neonatal respiratory distress,HPO,phenotype,PHENOTYPE_14420
14421,14421,14421,14421,14421,14421,14421,14421,25317,Cubitus varus,HPO,phenotype,PHENOTYPE_14421
14422,14422,14422,14422,14422,14422,14422,14422,25459,Increased CSF/serum albumin ratio,HPO,phenotype,PHENOTYPE_14422
14423,14423,14423,14423,14423,14423,14423,14423,6000376,Jugular foramen stenosis,HPO,phenotype,PHENOTYPE_14423
14424,14424,14424,14424,14424,14424,14424,14424,33352,Pulmonary hypertensive crisis,HPO,phenotype,PHENOTYPE_14424
14425,14425,14425,14425,14425,14425,14425,14425,11772,Abnormal thyroid morphology,HPO,phenotype,PHENOTYPE_14425
14426,14426,14426,14426,14426,14426,14426,14426,6543,Cardiorespiratory arrest,HPO,phenotype,PHENOTYPE_14426
14427,14427,14427,14427,14427,14427,14427,14427,12304,Hypoplastic aortic arch,HPO,phenotype,PHENOTYPE_14427
14428,14428,14428,14428,14428,14428,14428,14428,3300,Ovoid vertebral bodies,HPO,phenotype,PHENOTYPE_14428
14429,14429,14429,14429,14429,14429,14429,14429,30457,Abnormal amplitude of pattern onset/offset visual evoked potentials,HPO,phenotype,PHENOTYPE_14429
14430,14430,14430,14430,14430,14430,14430,14430,6000728,History of recent rodent exposure,HPO,phenotype,PHENOTYPE_14430
14431,14431,14431,14431,14431,14431,14431,14431,34962,Exacerbated by amiodarone exposure,HPO,phenotype,PHENOTYPE_14431
14432,14432,14432,14432,14432,14432,14432,14432,11585,Thoracic ectopia cordis,HPO,phenotype,PHENOTYPE_14432
14433,14433,14433,14433,14433,14433,14433,14433,20171,Decreased blood drug concentration,HPO,phenotype,PHENOTYPE_14433
14434,14434,14434,14434,14434,14434,14434,14434,2310,Orofacial dyskinesia,HPO,phenotype,PHENOTYPE_14434
14435,14435,14435,14435,14435,14435,14435,14435,3869,Humeral cortical thinning,HPO,phenotype,PHENOTYPE_14435
14436,14436,14436,14436,14436,14436,14436,14436,6657,Hypoplasia of first ribs,HPO,phenotype,PHENOTYPE_14436
14437,14437,14437,14437,14437,14437,14437,14437,4790,Hypoplasia of the small intestine,HPO,phenotype,PHENOTYPE_14437
14438,14438,14438,14438,14438,14438,14438,14438,30224,Abnormal muscle fiber desmin,HPO,phenotype,PHENOTYPE_14438
14439,14439,14439,14439,14439,14439,14439,14439,100022,Abnormality of movement,HPO,phenotype,PHENOTYPE_14439
14440,14440,14440,14440,14440,14440,14440,14440,2708,Prominent median palatal raphe,HPO,phenotype,PHENOTYPE_14440
14441,14441,14441,14441,14441,14441,14441,14441,500114,Abnormal stool urobilinogen concentration,HPO,phenotype,PHENOTYPE_14441
14442,14442,14442,14442,14442,14442,14442,14442,6165,Proportionate shortening of all digits,HPO,phenotype,PHENOTYPE_14442
14443,14443,14443,14443,14443,14443,14443,14443,100954,Open operculum,HPO,phenotype,PHENOTYPE_14443
14444,14444,14444,14444,14444,14444,14444,14444,9969,Partial duplication of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_14444
14445,14445,14445,14445,14445,14445,14445,14445,500132,Hypovalinemia,HPO,phenotype,PHENOTYPE_14445
14446,14446,14446,14446,14446,14446,14446,14446,8158,Hyperapobetalipoproteinemia,HPO,phenotype,PHENOTYPE_14446
14447,14447,14447,14447,14447,14447,14447,14447,4333,Bone-marrow foam cells,HPO,phenotype,PHENOTYPE_14447
14448,14448,14448,14448,14448,14448,14448,14448,12879,Anejaculation,HPO,phenotype,PHENOTYPE_14448
14449,14449,14449,14449,14449,14449,14449,14449,2157,Azotemia,HPO,phenotype,PHENOTYPE_14449
14450,14450,14450,14450,14450,14450,14450,14450,6000651,Abnormal metacarpal ossification,HPO,phenotype,PHENOTYPE_14450
14451,14451,14451,14451,14451,14451,14451,14451,12007,Focal cognitive seizure with hallucination,HPO,phenotype,PHENOTYPE_14451
14452,14452,14452,14452,14452,14452,14452,14452,32359,Decreased forced expiratory flow 25-75%,HPO,phenotype,PHENOTYPE_14452
14453,14453,14453,14453,14453,14453,14453,14453,9023,Abdominal wall muscle weakness,HPO,phenotype,PHENOTYPE_14453
14454,14454,14454,14454,14454,14454,14454,14454,40092,Asymmetry of the shape of the ears,HPO,phenotype,PHENOTYPE_14454
14455,14455,14455,14455,14455,14455,14455,14455,10198,Osteolytic defects of the middle phalanges of the toes,HPO,phenotype,PHENOTYPE_14455
14456,14456,14456,14456,14456,14456,14456,14456,10728,Aplasia of the retina,HPO,phenotype,PHENOTYPE_14456
14457,14457,14457,14457,14457,14457,14457,14457,2724,Recurrent Aspergillus infections,HPO,phenotype,PHENOTYPE_14457
14458,14458,14458,14458,14458,14458,14458,14458,32852,Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia,HPO,phenotype,PHENOTYPE_14458
14459,14459,14459,14459,14459,14459,14459,14459,6000769,Paracentral hyper-autofluorecence,HPO,phenotype,PHENOTYPE_14459
14460,14460,14460,14460,14460,14460,14460,14460,200036,Skin nodule,HPO,phenotype,PHENOTYPE_14460
14461,14461,14461,14461,14461,14461,14461,14461,30349,Decreased circulating androgen concentration,HPO,phenotype,PHENOTYPE_14461
14462,14462,14462,14462,14462,14462,14462,14462,2786,Tracheobronchomalacia,HPO,phenotype,PHENOTYPE_14462
14463,14463,14463,14463,14463,14463,14463,14463,965,Cutis marmorata,HPO,phenotype,PHENOTYPE_14463
14464,14464,14464,14464,14464,14464,14464,14464,10715,2-5 toe syndactyly,HPO,phenotype,PHENOTYPE_14464
14465,14465,14465,14465,14465,14465,14465,14465,9632,Curved proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_14465
14466,14466,14466,14466,14466,14466,14466,14466,9315,Triangular shaped proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_14466
14467,14467,14467,14467,14467,14467,14467,14467,12104,Parietal cortical atrophy,HPO,phenotype,PHENOTYPE_14467
14468,14468,14468,14468,14468,14468,14468,14468,3844,Small epiphyses of the upper limbs,HPO,phenotype,PHENOTYPE_14468
14469,14469,14469,14469,14469,14469,14469,14469,31737,Cicatricial entropion,HPO,phenotype,PHENOTYPE_14469
14470,14470,14470,14470,14470,14470,14470,14470,896,Rib exostoses,HPO,phenotype,PHENOTYPE_14470
14471,14471,14471,14471,14471,14471,14471,14471,9019,Progressive loss of facial adipose tissue,HPO,phenotype,PHENOTYPE_14471
14472,14472,14472,14472,14472,14472,14472,14472,5000014,Anti-GlyR antibody,HPO,phenotype,PHENOTYPE_14472
14473,14473,14473,14473,14473,14473,14473,14473,6000149,Reduced in vitro contracture test threshold,HPO,phenotype,PHENOTYPE_14473
14474,14474,14474,14474,14474,14474,14474,14474,10710,3-5 finger syndactyly,HPO,phenotype,PHENOTYPE_14474
14475,14475,14475,14475,14475,14475,14475,14475,5707,Bilateral triphalangeal thumbs,HPO,phenotype,PHENOTYPE_14475
14476,14476,14476,14476,14476,14476,14476,14476,430150,Positive blood infectious agent test,HPO,phenotype,PHENOTYPE_14476
14477,14477,14477,14477,14477,14477,14477,14477,33582,Pulmonary interstitial lymphocyte infiltration,HPO,phenotype,PHENOTYPE_14477
14478,14478,14478,14478,14478,14478,14478,14478,6000447,Decreased CSF asialotransferrin to transferrin ratio,HPO,phenotype,PHENOTYPE_14478
14479,14479,14479,14479,14479,14479,14479,14479,32403,Asparaginuria,HPO,phenotype,PHENOTYPE_14479
14480,14480,14480,14480,14480,14480,14480,14480,34714,Hepatic melanin-like lysosomal pigmentation,HPO,phenotype,PHENOTYPE_14480
14481,14481,14481,14481,14481,14481,14481,14481,12874,Abnormal male reproductive system physiology,HPO,phenotype,PHENOTYPE_14481
14482,14482,14482,14482,14482,14482,14482,14482,32832,Neonatal bilateral asymmetric myoclonic seizure,HPO,phenotype,PHENOTYPE_14482
14483,14483,14483,14483,14483,14483,14483,14483,3347,Impaired lymphocyte transformation with phytohemagglutinin,HPO,phenotype,PHENOTYPE_14483
14484,14484,14484,14484,14484,14484,14484,14484,200106,Absent/shortened dynein arms,HPO,phenotype,PHENOTYPE_14484
14485,14485,14485,14485,14485,14485,14485,14485,25757,Abnormal nail surface,HPO,phenotype,PHENOTYPE_14485
14486,14486,14486,14486,14486,14486,14486,14486,1741,Phimosis,HPO,phenotype,PHENOTYPE_14486
14487,14487,14487,14487,14487,14487,14487,14487,31978,Increased vertical cup-to-disc ratio - 1.0,HPO,phenotype,PHENOTYPE_14487
14488,14488,14488,14488,14488,14488,14488,14488,40423,Abnormal urinary guanosine level,HPO,phenotype,PHENOTYPE_14488
14489,14489,14489,14489,14489,14489,14489,14489,100377,Aplasia/hypoplasia of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_14489
14490,14490,14490,14490,14490,14490,14490,14490,200071,Peripheral vitreoretinal degeneration,HPO,phenotype,PHENOTYPE_14490
14491,14491,14491,14491,14491,14491,14491,14491,1908,Hypoplastic anemia,HPO,phenotype,PHENOTYPE_14491
14492,14492,14492,14492,14492,14492,14492,14492,30196,Fatigable weakness of respiratory muscles,HPO,phenotype,PHENOTYPE_14492
14493,14493,14493,14493,14493,14493,14493,14493,5928,Synostosis involving the fibula,HPO,phenotype,PHENOTYPE_14493
14494,14494,14494,14494,14494,14494,14494,14494,5876,Progressive flexion contractures,HPO,phenotype,PHENOTYPE_14494
14495,14495,14495,14495,14495,14495,14495,14495,100550,Tendon rupture,HPO,phenotype,PHENOTYPE_14495
14496,14496,14496,14496,14496,14496,14496,14496,11898,Abnormality of circulating fibrinogen,HPO,phenotype,PHENOTYPE_14496
14497,14497,14497,14497,14497,14497,14497,14497,3697,Scapuloperoneal amyotrophy,HPO,phenotype,PHENOTYPE_14497
14498,14498,14498,14498,14498,14498,14498,14498,31311,Middle cerebral artery calcification,HPO,phenotype,PHENOTYPE_14498
14499,14499,14499,14499,14499,14499,14499,14499,32726,Focal impaired awareness hyperkinetic seizure,HPO,phenotype,PHENOTYPE_14499
14500,14500,14500,14500,14500,14500,14500,14500,10837,Decreased circulating ceruloplasmin concentration,HPO,phenotype,PHENOTYPE_14500
14501,14501,14501,14501,14501,14501,14501,14501,410180,Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot,HPO,phenotype,PHENOTYPE_14501
14502,14502,14502,14502,14502,14502,14502,14502,32059,Mild malformation of cortical development,HPO,phenotype,PHENOTYPE_14502
14503,14503,14503,14503,14503,14503,14503,14503,1319,Neonatal hypotonia,HPO,phenotype,PHENOTYPE_14503
14504,14504,14504,14504,14504,14504,14504,14504,30934,Oral erythroplakia,HPO,phenotype,PHENOTYPE_14504
14505,14505,14505,14505,14505,14505,14505,14505,20250,Abnormal lymph node marginal zone morphology,HPO,phenotype,PHENOTYPE_14505
14506,14506,14506,14506,14506,14506,14506,14506,728,Impaired ability to form peer relationships,HPO,phenotype,PHENOTYPE_14506
14507,14507,14507,14507,14507,14507,14507,14507,3186,Inverted nipples,HPO,phenotype,PHENOTYPE_14507
14508,14508,14508,14508,14508,14508,14508,14508,11584,Thoracocervical ectopia cordis,HPO,phenotype,PHENOTYPE_14508
14509,14509,14509,14509,14509,14509,14509,14509,6000006,Holster sign,HPO,phenotype,PHENOTYPE_14509
14510,14510,14510,14510,14510,14510,14510,14510,32239,Increased circulating band cell count,HPO,phenotype,PHENOTYPE_14510
14511,14511,14511,14511,14511,14511,14511,14511,2589,Gastrointestinal atresia,HPO,phenotype,PHENOTYPE_14511
14512,14512,14512,14512,14512,14512,14512,14512,9375,Bullet-shaped phalanges of the 5th finger,HPO,phenotype,PHENOTYPE_14512
14513,14513,14513,14513,14513,14513,14513,14513,20060,Decreased red blood cell count,HPO,phenotype,PHENOTYPE_14513
14514,14514,14514,14514,14514,14514,14514,14514,33032,Triggered by an abusive adult,HPO,phenotype,PHENOTYPE_14514
14515,14515,14515,14515,14515,14515,14515,14515,9182,Triangular shaped middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_14515
14516,14516,14516,14516,14516,14516,14516,14516,200067,Recurrent spontaneous abortion,HPO,phenotype,PHENOTYPE_14516
14517,14517,14517,14517,14517,14517,14517,14517,7648,Punctate cataract,HPO,phenotype,PHENOTYPE_14517
14518,14518,14518,14518,14518,14518,14518,14518,1070,Mottled pigmentation,HPO,phenotype,PHENOTYPE_14518
14519,14519,14519,14519,14519,14519,14519,14519,6000724,Auspitz sign,HPO,phenotype,PHENOTYPE_14519
14520,14520,14520,14520,14520,14520,14520,14520,3045,Abnormal patella morphology,HPO,phenotype,PHENOTYPE_14520
14521,14521,14521,14521,14521,14521,14521,14521,10137,Triangular epiphysis of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_14521
14522,14522,14522,14522,14522,14522,14522,14522,6000587,Bone arteriovenous malformation,HPO,phenotype,PHENOTYPE_14522
14523,14523,14523,14523,14523,14523,14523,14523,9284,Abnormality of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_14523
14524,14524,14524,14524,14524,14524,14524,14524,687,Widely spaced teeth,HPO,phenotype,PHENOTYPE_14524
14525,14525,14525,14525,14525,14525,14525,14525,4023,Sloping radial metaphysis,HPO,phenotype,PHENOTYPE_14525
14526,14526,14526,14526,14526,14526,14526,14526,11033,Impairment of fructose metabolism,HPO,phenotype,PHENOTYPE_14526
14527,14527,14527,14527,14527,14527,14527,14527,1686,Loss of voice,HPO,phenotype,PHENOTYPE_14527
14528,14528,14528,14528,14528,14528,14528,14528,20182,Abnormal circulating A-type atrial natriuretic peptide concentration,HPO,phenotype,PHENOTYPE_14528
14529,14529,14529,14529,14529,14529,14529,14529,7011,Fourth cranial nerve palsy,HPO,phenotype,PHENOTYPE_14529
14530,14530,14530,14530,14530,14530,14530,14530,6136,Bilateral postaxial polydactyly,HPO,phenotype,PHENOTYPE_14530
14531,14531,14531,14531,14531,14531,14531,14531,100306,Muscle fiber hyaline bodies,HPO,phenotype,PHENOTYPE_14531
14532,14532,14532,14532,14532,14532,14532,14532,11322,Right unilambdoid synostosis,HPO,phenotype,PHENOTYPE_14532
14533,14533,14533,14533,14533,14533,14533,14533,20236,Vaguely nodular lymph-node architecture,HPO,phenotype,PHENOTYPE_14533
14534,14534,14534,14534,14534,14534,14534,14534,9706,Synostosis involving the 3rd metacarpal,HPO,phenotype,PHENOTYPE_14534
14535,14535,14535,14535,14535,14535,14535,14535,5318,Cerebral vasculitis,HPO,phenotype,PHENOTYPE_14535
14536,14536,14536,14536,14536,14536,14536,14536,33614,Tracheal bronchus,HPO,phenotype,PHENOTYPE_14536
14537,14537,14537,14537,14537,14537,14537,14537,9430,Broad middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_14537
14538,14538,14538,14538,14538,14538,14538,14538,100421,Partial duplication of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_14538
14539,14539,14539,14539,14539,14539,14539,14539,6000792,Positive lacrimal tract actinomyces culture,HPO,phenotype,PHENOTYPE_14539
14540,14540,14540,14540,14540,14540,14540,14540,2000,Short columella,HPO,phenotype,PHENOTYPE_14540
14541,14541,14541,14541,14541,14541,14541,14541,31690,Opportunistic infection,HPO,phenotype,PHENOTYPE_14541
14542,14542,14542,14542,14542,14542,14542,14542,6000632,Mesenteric torsion,HPO,phenotype,PHENOTYPE_14542
14543,14543,14543,14543,14543,14543,14543,14543,11444,Decorticate rigidity,HPO,phenotype,PHENOTYPE_14543
14544,14544,14544,14544,14544,14544,14544,14544,5000048,Anti-Kv1.4 antibody,HPO,phenotype,PHENOTYPE_14544
14545,14545,14545,14545,14545,14545,14545,14545,32582,Renal interstitial foam cells,HPO,phenotype,PHENOTYPE_14545
14546,14546,14546,14546,14546,14546,14546,14546,32625,Intratubular erythrocyte cast,HPO,phenotype,PHENOTYPE_14546
14547,14547,14547,14547,14547,14547,14547,14547,12265,Ciliary dyskinesia,HPO,phenotype,PHENOTYPE_14547
14548,14548,14548,14548,14548,14548,14548,14548,3149,Hyperuricosuria,HPO,phenotype,PHENOTYPE_14548
14549,14549,14549,14549,14549,14549,14549,14549,2,Abnormality of body height,HPO,phenotype,PHENOTYPE_14549
14550,14550,14550,14550,14550,14550,14550,14550,12203,Onychomycosis,HPO,phenotype,PHENOTYPE_14550
14551,14551,14551,14551,14551,14551,14551,14551,56,Abnormal clitoris morphology,HPO,phenotype,PHENOTYPE_14551
14552,14552,14552,14552,14552,14552,14552,14552,31776,Cyclotropia,HPO,phenotype,PHENOTYPE_14552
14553,14553,14553,14553,14553,14553,14553,14553,9843,Aplasia/Hypoplasia of the middle phalanges of the hand,HPO,phenotype,PHENOTYPE_14553
14554,14554,14554,14554,14554,14554,14554,14554,2419,Molar tooth sign on MRI,HPO,phenotype,PHENOTYPE_14554
14555,14555,14555,14555,14555,14555,14555,14555,3000028,Abnormality of depressor anguli oris muscle,HPO,phenotype,PHENOTYPE_14555
14556,14556,14556,14556,14556,14556,14556,14556,34464,Homocitrullinuria,HPO,phenotype,PHENOTYPE_14556
14557,14557,14557,14557,14557,14557,14557,14557,8030,Retinal arteritis,HPO,phenotype,PHENOTYPE_14557
14558,14558,14558,14558,14558,14558,14558,14558,8478,Scheuermann-like vertebral changes,HPO,phenotype,PHENOTYPE_14558
14559,14559,14559,14559,14559,14559,14559,14559,4915,Impairment of galactose metabolism,HPO,phenotype,PHENOTYPE_14559
14560,14560,14560,14560,14560,14560,14560,14560,1367,Abnormal joint morphology,HPO,phenotype,PHENOTYPE_14560
14561,14561,14561,14561,14561,14561,14561,14561,31670,Continuous heart murmur,HPO,phenotype,PHENOTYPE_14561
14562,14562,14562,14562,14562,14562,14562,14562,31747,Superior rectus muscle underaction,HPO,phenotype,PHENOTYPE_14562
14563,14563,14563,14563,14563,14563,14563,14563,34784,Vasculitis by anatomical site,HPO,phenotype,PHENOTYPE_14563
14564,14564,14564,14564,14564,14564,14564,14564,8729,Absence of labia majora,HPO,phenotype,PHENOTYPE_14564
14565,14565,14565,14565,14565,14565,14565,14565,7812,Herpetiform corneal ulceration,HPO,phenotype,PHENOTYPE_14565
14566,14566,14566,14566,14566,14566,14566,14566,25263,Stiff knee,HPO,phenotype,PHENOTYPE_14566
14567,14567,14567,14567,14567,14567,14567,14567,100737,Abnormal hard palate morphology,HPO,phenotype,PHENOTYPE_14567
14568,14568,14568,14568,14568,14568,14568,14568,34330,Regional right ventricular hypokinesis,HPO,phenotype,PHENOTYPE_14568
14569,14569,14569,14569,14569,14569,14569,14569,34527,Reduced muscle phosphoglycerate kinase activity,HPO,phenotype,PHENOTYPE_14569
14570,14570,14570,14570,14570,14570,14570,14570,33559,Anti-myeloperoxidase antibody positivity,HPO,phenotype,PHENOTYPE_14570
14571,14571,14571,14571,14571,14571,14571,14571,2944,Thoracolumbar scoliosis,HPO,phenotype,PHENOTYPE_14571
14572,14572,14572,14572,14572,14572,14572,14572,32488,Abnormal fecal pH,HPO,phenotype,PHENOTYPE_14572
14573,14573,14573,14573,14573,14573,14573,14573,11143,Age-related cortical cataract,HPO,phenotype,PHENOTYPE_14573
14574,14574,14574,14574,14574,14574,14574,14574,33291,Glomerular karyhorrhectic debris,HPO,phenotype,PHENOTYPE_14574
14575,14575,14575,14575,14575,14575,14575,14575,3358,Elevated intracellular cystine,HPO,phenotype,PHENOTYPE_14575
14576,14576,14576,14576,14576,14576,14576,14576,9504,Cone-shaped epiphysis of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_14576
14577,14577,14577,14577,14577,14577,14577,14577,31804,Premacular hemorrhage,HPO,phenotype,PHENOTYPE_14577
14578,14578,14578,14578,14578,14578,14578,14578,5200013,Ambiguous facial expression,HPO,phenotype,PHENOTYPE_14578
14579,14579,14579,14579,14579,14579,14579,14579,3607,4-hydroxyphenylacetic aciduria,HPO,phenotype,PHENOTYPE_14579
14580,14580,14580,14580,14580,14580,14580,14580,410381,"Abnormal proportion of central memory CD4-positive, alpha-beta T cells",HPO,phenotype,PHENOTYPE_14580
14581,14581,14581,14581,14581,14581,14581,14581,25650,Steroid-dependent nephrotic syndrome,HPO,phenotype,PHENOTYPE_14581
14582,14582,14582,14582,14582,14582,14582,14582,6000091,Postpartum exacerbation,HPO,phenotype,PHENOTYPE_14582
14583,14583,14583,14583,14583,14583,14583,14583,20234,Altered lymph-node tissue architecture,HPO,phenotype,PHENOTYPE_14583
14584,14584,14584,14584,14584,14584,14584,14584,219,Thin upper lip vermilion,HPO,phenotype,PHENOTYPE_14584
14585,14585,14585,14585,14585,14585,14585,14585,34011,Reduced progressive sperm motility,HPO,phenotype,PHENOTYPE_14585
14586,14586,14586,14586,14586,14586,14586,14586,32122,Very low visual acuity,HPO,phenotype,PHENOTYPE_14586
14587,14587,14587,14587,14587,14587,14587,14587,100409,Complete duplication of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_14587
14588,14588,14588,14588,14588,14588,14588,14588,33882,Arcuate vein intima/medial amyloidosis,HPO,phenotype,PHENOTYPE_14588
14589,14589,14589,14589,14589,14589,14589,14589,34348,Subpulmonary stenosis,HPO,phenotype,PHENOTYPE_14589
14590,14590,14590,14590,14590,14590,14590,14590,11746,Secretory adrenocortical adenoma,HPO,phenotype,PHENOTYPE_14590
14591,14591,14591,14591,14591,14591,14591,14591,25396,Decreased attenuation pattern on pulmonary HRCT,HPO,phenotype,PHENOTYPE_14591
14592,14592,14592,14592,14592,14592,14592,14592,6000681,High serum osmolality,HPO,phenotype,PHENOTYPE_14592
14593,14593,14593,14593,14593,14593,14593,14593,5200010,Abnormal Intonation,HPO,phenotype,PHENOTYPE_14593
14594,14594,14594,14594,14594,14594,14594,14594,8323,Abnormal light- and dark-adapted electroretinogram,HPO,phenotype,PHENOTYPE_14594
14595,14595,14595,14595,14595,14595,14595,14595,410232,Increased anti-fungi IgE antibody level,HPO,phenotype,PHENOTYPE_14595
14596,14596,14596,14596,14596,14596,14596,14596,147,Polycystic ovaries,HPO,phenotype,PHENOTYPE_14596
14597,14597,14597,14597,14597,14597,14597,14597,6889,"Intellectual disability, borderline",HPO,phenotype,PHENOTYPE_14597
14598,14598,14598,14598,14598,14598,14598,14598,32485,Abnormal fecal osmolality,HPO,phenotype,PHENOTYPE_14598
14599,14599,14599,14599,14599,14599,14599,14599,6067,Multiple carpal ossification centers,HPO,phenotype,PHENOTYPE_14599
14600,14600,14600,14600,14600,14600,14600,14600,470,Short neck,HPO,phenotype,PHENOTYPE_14600
14601,14601,14601,14601,14601,14601,14601,14601,31082,Impaired growth-hormone response to glucagon stimulation test,HPO,phenotype,PHENOTYPE_14601
14602,14602,14602,14602,14602,14602,14602,14602,6000348,Antistreptolysin O antibody positivity,HPO,phenotype,PHENOTYPE_14602
14603,14603,14603,14603,14603,14603,14603,14603,200119,Acute hepatitis,HPO,phenotype,PHENOTYPE_14603
14604,14604,14604,14604,14604,14604,14604,14604,410272,Vulvar hemangioma,HPO,phenotype,PHENOTYPE_14604
14605,14605,14605,14605,14605,14605,14605,14605,6264,Aplasia/Hypoplasia of the 2nd finger,HPO,phenotype,PHENOTYPE_14605
14606,14606,14606,14606,14606,14606,14606,14606,9262,Bracket epiphysis of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_14606
14607,14607,14607,14607,14607,14607,14607,14607,2152,Hyperproteinemia,HPO,phenotype,PHENOTYPE_14607
14608,14608,14608,14608,14608,14608,14608,14608,33330,Impaired neck-righting reflex,HPO,phenotype,PHENOTYPE_14608
14609,14609,14609,14609,14609,14609,14609,14609,100811,Aplasia/Hypoplasia of the colon,HPO,phenotype,PHENOTYPE_14609
14610,14610,14610,14610,14610,14610,14610,14610,7112,Temporal cortical atrophy,HPO,phenotype,PHENOTYPE_14610
14611,14611,14611,14611,14611,14611,14611,14611,30143,Hyperactive bowel sounds,HPO,phenotype,PHENOTYPE_14611
14612,14612,14612,14612,14612,14612,14612,14612,6477,Abnormal alveolar ridge morphology,HPO,phenotype,PHENOTYPE_14612
14613,14613,14613,14613,14613,14613,14613,14613,4630,Anterior beaking of thoracic vertebrae,HPO,phenotype,PHENOTYPE_14613
14614,14614,14614,14614,14614,14614,14614,14614,32020,Eosinophilic bladder infiltration,HPO,phenotype,PHENOTYPE_14614
14615,14615,14615,14615,14615,14615,14615,14615,32225,Perifollicular fibroma,HPO,phenotype,PHENOTYPE_14615
14616,14616,14616,14616,14616,14616,14616,14616,34907,Increased urine hexacarboxylporphyrin level,HPO,phenotype,PHENOTYPE_14616
14617,14617,14617,14617,14617,14617,14617,14617,6402,Distal shortening of limbs,HPO,phenotype,PHENOTYPE_14617
14618,14618,14618,14618,14618,14618,14618,14618,25601,Inferior rectus muscle weakness,HPO,phenotype,PHENOTYPE_14618
14619,14619,14619,14619,14619,14619,14619,14619,9960,Complete duplication of the phalanges of the 3rd finger,HPO,phenotype,PHENOTYPE_14619
14620,14620,14620,14620,14620,14620,14620,14620,100408,Complete duplication of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_14620
14621,14621,14621,14621,14621,14621,14621,14621,4857,Hyperchromic macrocytic anemia,HPO,phenotype,PHENOTYPE_14621
14622,14622,14622,14622,14622,14622,14622,14622,10394,Abnormal morphology of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_14622
14623,14623,14623,14623,14623,14623,14623,14623,12882,Hyperplastic labia majora,HPO,phenotype,PHENOTYPE_14623
14624,14624,14624,14624,14624,14624,14624,14624,200107,Shortened inner dynein arms,HPO,phenotype,PHENOTYPE_14624
14625,14625,14625,14625,14625,14625,14625,14625,1679,Abnormal aortic morphology,HPO,phenotype,PHENOTYPE_14625
14626,14626,14626,14626,14626,14626,14626,14626,9050,Quadriceps muscle atrophy,HPO,phenotype,PHENOTYPE_14626
14627,14627,14627,14627,14627,14627,14627,14627,30799,Scaphocephaly,HPO,phenotype,PHENOTYPE_14627
14628,14628,14628,14628,14628,14628,14628,14628,25500,Class II obesity,HPO,phenotype,PHENOTYPE_14628
14629,14629,14629,14629,14629,14629,14629,14629,31806,Abnormal basophil count,HPO,phenotype,PHENOTYPE_14629
14630,14630,14630,14630,14630,14630,14630,14630,34016,Anti-HLA antibody positivity,HPO,phenotype,PHENOTYPE_14630
14631,14631,14631,14631,14631,14631,14631,14631,5200361,Prolonged REM sleep,HPO,phenotype,PHENOTYPE_14631
14632,14632,14632,14632,14632,14632,14632,14632,5200412,Allesthesia,HPO,phenotype,PHENOTYPE_14632
14633,14633,14633,14633,14633,14633,14633,14633,4000108,Bone marrow erythroid vacuolization,HPO,phenotype,PHENOTYPE_14633
14634,14634,14634,14634,14634,14634,14634,14634,30255,Large intestinal polyposis,HPO,phenotype,PHENOTYPE_14634
14635,14635,14635,14635,14635,14635,14635,14635,31159,Thinning of Descemet membrane,HPO,phenotype,PHENOTYPE_14635
14636,14636,14636,14636,14636,14636,14636,14636,25463,Abnormality of redox activity,HPO,phenotype,PHENOTYPE_14636
14637,14637,14637,14637,14637,14637,14637,14637,2098,Respiratory distress,HPO,phenotype,PHENOTYPE_14637
14638,14638,14638,14638,14638,14638,14638,14638,2209,Sparse scalp hair,HPO,phenotype,PHENOTYPE_14638
14639,14639,14639,14639,14639,14639,14639,14639,4397,Ectopic anus,HPO,phenotype,PHENOTYPE_14639
14640,14640,14640,14640,14640,14640,14640,14640,3960,Exostoses of the forearm bones,HPO,phenotype,PHENOTYPE_14640
14641,14641,14641,14641,14641,14641,14641,14641,30061,Neuroectodermal neoplasm,HPO,phenotype,PHENOTYPE_14641
14642,14642,14642,14642,14642,14642,14642,14642,1491,Congenital fibrosis of extraocular muscles,HPO,phenotype,PHENOTYPE_14642
14643,14643,14643,14643,14643,14643,14643,14643,34261,Aplasia/Hypoplasia of facial bones,HPO,phenotype,PHENOTYPE_14643
14644,14644,14644,14644,14644,14644,14644,14644,30973,Postexertional symptom exacerbation,HPO,phenotype,PHENOTYPE_14644
14645,14645,14645,14645,14645,14645,14645,14645,31406,Abnormal cytokine signaling,HPO,phenotype,PHENOTYPE_14645
14646,14646,14646,14646,14646,14646,14646,14646,31657,Abnormal heart sound,HPO,phenotype,PHENOTYPE_14646
14647,14647,14647,14647,14647,14647,14647,14647,2781,Upper airway obstruction,HPO,phenotype,PHENOTYPE_14647
14648,14648,14648,14648,14648,14648,14648,14648,45004,Abnormal ossification of the trapezoid bone,HPO,phenotype,PHENOTYPE_14648
14649,14649,14649,14649,14649,14649,14649,14649,2605,Hepatic necrosis,HPO,phenotype,PHENOTYPE_14649
14650,14650,14650,14650,14650,14650,14650,14650,6000659,Elevated muscle fiber laminin alpha 5 expression,HPO,phenotype,PHENOTYPE_14650
14651,14651,14651,14651,14651,14651,14651,14651,8724,Hypoplasia of the ovary,HPO,phenotype,PHENOTYPE_14651
14652,14652,14652,14652,14652,14652,14652,14652,8452,Wafer-thin platyspondyly,HPO,phenotype,PHENOTYPE_14652
14653,14653,14653,14653,14653,14653,14653,14653,31622,Brown anomaly,HPO,phenotype,PHENOTYPE_14653
14654,14654,14654,14654,14654,14654,14654,14654,3025,Metaphyseal irregularity,HPO,phenotype,PHENOTYPE_14654
14655,14655,14655,14655,14655,14655,14655,14655,276,Long face,HPO,phenotype,PHENOTYPE_14655
14656,14656,14656,14656,14656,14656,14656,14656,31144,Coarsened hepatic echotexture,HPO,phenotype,PHENOTYPE_14656
14657,14657,14657,14657,14657,14657,14657,14657,32948,Renal interstitial fibrosis,HPO,phenotype,PHENOTYPE_14657
14658,14658,14658,14658,14658,14658,14658,14658,2101,Abnormal lung lobation,HPO,phenotype,PHENOTYPE_14658
14659,14659,14659,14659,14659,14659,14659,14659,2492,Abnormal corticospinal tract morphology,HPO,phenotype,PHENOTYPE_14659
14660,14660,14660,14660,14660,14660,14660,14660,9276,Contracture of the proximal interphalangeal joint of the 4th finger,HPO,phenotype,PHENOTYPE_14660
14661,14661,14661,14661,14661,14661,14661,14661,31259,Oophoritis,HPO,phenotype,PHENOTYPE_14661
14662,14662,14662,14662,14662,14662,14662,14662,34332,Cognitive regression,HPO,phenotype,PHENOTYPE_14662
14663,14663,14663,14663,14663,14663,14663,14663,6001108,Local anesthetic ineffectiveness,HPO,phenotype,PHENOTYPE_14663
14664,14664,14664,14664,14664,14664,14664,14664,33207,Increased proportion autoreactive unresponsive CD21-/low B cells,HPO,phenotype,PHENOTYPE_14664
14665,14665,14665,14665,14665,14665,14665,14665,216,Broad secondary alveolar ridge,HPO,phenotype,PHENOTYPE_14665
14666,14666,14666,14666,14666,14666,14666,14666,32886,Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia,HPO,phenotype,PHENOTYPE_14666
14667,14667,14667,14667,14667,14667,14667,14667,11507,Macular flecks,HPO,phenotype,PHENOTYPE_14667
14668,14668,14668,14668,14668,14668,14668,14668,40150,Epiblepharon of upper lid,HPO,phenotype,PHENOTYPE_14668
14669,14669,14669,14669,14669,14669,14669,14669,5652,Cortical sclerosis,HPO,phenotype,PHENOTYPE_14669
14670,14670,14670,14670,14670,14670,14670,14670,32631,Intratubular hemoglobin casts,HPO,phenotype,PHENOTYPE_14670
14671,14671,14671,14671,14671,14671,14671,14671,12170,Nail-biting,HPO,phenotype,PHENOTYPE_14671
14672,14672,14672,14672,14672,14672,14672,14672,3355,Aminoaciduria,HPO,phenotype,PHENOTYPE_14672
14673,14673,14673,14673,14673,14673,14673,14673,2236,Frontal upsweep of hair,HPO,phenotype,PHENOTYPE_14673
14674,14674,14674,14674,14674,14674,14674,14674,5349,Hypoplasia of the epiglottis,HPO,phenotype,PHENOTYPE_14674
14675,14675,14675,14675,14675,14675,14675,14675,11810,Impaired two-point discrimination,HPO,phenotype,PHENOTYPE_14675
14676,14676,14676,14676,14676,14676,14676,14676,34432,Intertriginous distribution,HPO,phenotype,PHENOTYPE_14676
14677,14677,14677,14677,14677,14677,14677,14677,6000952,Delayed toe phalanx ossification,HPO,phenotype,PHENOTYPE_14677
14678,14678,14678,14678,14678,14678,14678,14678,12155,Decreased corneal sensation,HPO,phenotype,PHENOTYPE_14678
14679,14679,14679,14679,14679,14679,14679,14679,33942,Arcuate vein medial/intimal necrosis,HPO,phenotype,PHENOTYPE_14679
14680,14680,14680,14680,14680,14680,14680,14680,33394,Anti-carbonic anhydrase II antibody positivity,HPO,phenotype,PHENOTYPE_14680
14681,14681,14681,14681,14681,14681,14681,14681,31371,Rectal perforation,HPO,phenotype,PHENOTYPE_14681
14682,14682,14682,14682,14682,14682,14682,14682,30720,Subchorionic septal cyst,HPO,phenotype,PHENOTYPE_14682
14683,14683,14683,14683,14683,14683,14683,14683,2516,Increased intracranial pressure,HPO,phenotype,PHENOTYPE_14683
14684,14684,14684,14684,14684,14684,14684,14684,1000,Abnormality of skin pigmentation,HPO,phenotype,PHENOTYPE_14684
14685,14685,14685,14685,14685,14685,14685,14685,100016,Abnormal mesentery morphology,HPO,phenotype,PHENOTYPE_14685
14686,14686,14686,14686,14686,14686,14686,14686,6333,Crowded maxillary incisors,HPO,phenotype,PHENOTYPE_14686
14687,14687,14687,14687,14687,14687,14687,14687,32278,2-hydroxyglutarate aciduria,HPO,phenotype,PHENOTYPE_14687
14688,14688,14688,14688,14688,14688,14688,14688,33273,Loss of glomerular endothelial cell fenestration,HPO,phenotype,PHENOTYPE_14688
14689,14689,14689,14689,14689,14689,14689,14689,30540,Unaided visual acuity 0.5 LogMAR,HPO,phenotype,PHENOTYPE_14689
14690,14690,14690,14690,14690,14690,14690,14690,31024,Cylindroma,HPO,phenotype,PHENOTYPE_14690
14691,14691,14691,14691,14691,14691,14691,14691,3996,Flattened radial head,HPO,phenotype,PHENOTYPE_14691
14692,14692,14692,14692,14692,14692,14692,14692,31671,Typical atrial flutter,HPO,phenotype,PHENOTYPE_14692
14693,14693,14693,14693,14693,14693,14693,14693,1949,Hypokalemic alkalosis,HPO,phenotype,PHENOTYPE_14693
14694,14694,14694,14694,14694,14694,14694,14694,31520,Groin pain,HPO,phenotype,PHENOTYPE_14694
14695,14695,14695,14695,14695,14695,14695,14695,410307,Positive stool methadone test,HPO,phenotype,PHENOTYPE_14695
14696,14696,14696,14696,14696,14696,14696,14696,1557,Prenatal movement abnormality,HPO,phenotype,PHENOTYPE_14696
14697,14697,14697,14697,14697,14697,14697,14697,734,Disinhibition,HPO,phenotype,PHENOTYPE_14697
14698,14698,14698,14698,14698,14698,14698,14698,5479,Decreased circulating IgE concentration,HPO,phenotype,PHENOTYPE_14698
14699,14699,14699,14699,14699,14699,14699,14699,6000264,Fetal tachycardia,HPO,phenotype,PHENOTYPE_14699
14700,14700,14700,14700,14700,14700,14700,14700,25291,Lower-body predominance,HPO,phenotype,PHENOTYPE_14700
14701,14701,14701,14701,14701,14701,14701,14701,12126,Stomach cancer,HPO,phenotype,PHENOTYPE_14701
14702,14702,14702,14702,14702,14702,14702,14702,100632,Pulmonary sequestration,HPO,phenotype,PHENOTYPE_14702
14703,14703,14703,14703,14703,14703,14703,14703,25472,Recurrent plantar mycosis,HPO,phenotype,PHENOTYPE_14703
14704,14704,14704,14704,14704,14704,14704,14704,34627,Bone marrow xanthomatosis,HPO,phenotype,PHENOTYPE_14704
14705,14705,14705,14705,14705,14705,14705,14705,9728,Neoplasm of striated muscle,HPO,phenotype,PHENOTYPE_14705
14706,14706,14706,14706,14706,14706,14706,14706,5938,Abnormal respiratory motile cilium morphology,HPO,phenotype,PHENOTYPE_14706
14707,14707,14707,14707,14707,14707,14707,14707,5218,Anoperineal fistula,HPO,phenotype,PHENOTYPE_14707
14708,14708,14708,14708,14708,14708,14708,14708,31685,Abnormal stool composition,HPO,phenotype,PHENOTYPE_14708
14709,14709,14709,14709,14709,14709,14709,14709,3805,Rimmed vacuoles,HPO,phenotype,PHENOTYPE_14709
14710,14710,14710,14710,14710,14710,14710,14710,2028,Chronic diarrhea,HPO,phenotype,PHENOTYPE_14710
14711,14711,14711,14711,14711,14711,14711,14711,6000592,Paraspinal arteriovenous malformation,HPO,phenotype,PHENOTYPE_14711
14712,14712,14712,14712,14712,14712,14712,14712,6790,Cerebral cortex with spongiform changes,HPO,phenotype,PHENOTYPE_14712
14713,14713,14713,14713,14713,14713,14713,14713,9378,Triangular shaped phalanges of the 5th finger,HPO,phenotype,PHENOTYPE_14713
14714,14714,14714,14714,14714,14714,14714,14714,34586,Glutathionuria,HPO,phenotype,PHENOTYPE_14714
14715,14715,14715,14715,14715,14715,14715,14715,32501,Exacerbated by contraceptive medication exposure,HPO,phenotype,PHENOTYPE_14715
14716,14716,14716,14716,14716,14716,14716,14716,410059,Increased level of D-threitol in urine,HPO,phenotype,PHENOTYPE_14716
14717,14717,14717,14717,14717,14717,14717,14717,31873,Early chronotype,HPO,phenotype,PHENOTYPE_14717
14718,14718,14718,14718,14718,14718,14718,14718,10168,Ivory epiphyses of the toes,HPO,phenotype,PHENOTYPE_14718
14719,14719,14719,14719,14719,14719,14719,14719,2277,Horner syndrome,HPO,phenotype,PHENOTYPE_14719
14720,14720,14720,14720,14720,14720,14720,14720,9394,Bracket epiphyses of the 4th finger,HPO,phenotype,PHENOTYPE_14720
14721,14721,14721,14721,14721,14721,14721,14721,6352,Failure of eruption of permanent teeth,HPO,phenotype,PHENOTYPE_14721
14722,14722,14722,14722,14722,14722,14722,14722,41059,Chronic (near) absent circulating IgG4,HPO,phenotype,PHENOTYPE_14722
14723,14723,14723,14723,14723,14723,14723,14723,9054,Scapuloperoneal myopathy,HPO,phenotype,PHENOTYPE_14723
14724,14724,14724,14724,14724,14724,14724,14724,34352,Bile duct polyp,HPO,phenotype,PHENOTYPE_14724
14725,14725,14725,14725,14725,14725,14725,14725,2305,Athetosis,HPO,phenotype,PHENOTYPE_14725
14726,14726,14726,14726,14726,14726,14726,14726,3448,Decreased sensory nerve conduction velocity,HPO,phenotype,PHENOTYPE_14726
14727,14727,14727,14727,14727,14727,14727,14727,100423,Partial duplication of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_14727
14728,14728,14728,14728,14728,14728,14728,14728,12206,Abnormal sperm motility,HPO,phenotype,PHENOTYPE_14728
14729,14729,14729,14729,14729,14729,14729,14729,8967,Exercise-induced muscle stiffness,HPO,phenotype,PHENOTYPE_14729
14730,14730,14730,14730,14730,14730,14730,14730,3274,Hypoplastic acetabulae,HPO,phenotype,PHENOTYPE_14730
14731,14731,14731,14731,14731,14731,14731,14731,31811,Bilirubinuria,HPO,phenotype,PHENOTYPE_14731
14732,14732,14732,14732,14732,14732,14732,14732,34944,Irregularly shaped keratohyaline granules,HPO,phenotype,PHENOTYPE_14732
14733,14733,14733,14733,14733,14733,14733,14733,10083,Triangular shaped distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_14733
14734,14734,14734,14734,14734,14734,14734,14734,12381,Delayed self-feeding during toddler years,HPO,phenotype,PHENOTYPE_14734
14735,14735,14735,14735,14735,14735,14735,14735,33091,Tyrosinuria,HPO,phenotype,PHENOTYPE_14735
14736,14736,14736,14736,14736,14736,14736,14736,25712,Spontaneous chorioamniotic separation,HPO,phenotype,PHENOTYPE_14736
14737,14737,14737,14737,14737,14737,14737,14737,9763,Limb pain,HPO,phenotype,PHENOTYPE_14737
14738,14738,14738,14738,14738,14738,14738,14738,12071,Abnormal circulating acylcarnitine concentration,HPO,phenotype,PHENOTYPE_14738
14739,14739,14739,14739,14739,14739,14739,14739,25387,Pill-rolling tremor,HPO,phenotype,PHENOTYPE_14739
14740,14740,14740,14740,14740,14740,14740,14740,410023,Abnormal distribution of cell junction proteins in buccal mucosal cells,HPO,phenotype,PHENOTYPE_14740
14741,14741,14741,14741,14741,14741,14741,14741,12825,Mild,HPO,phenotype,PHENOTYPE_14741
14742,14742,14742,14742,14742,14742,14742,14742,7537,Severe photosensitivity,HPO,phenotype,PHENOTYPE_14742
14743,14743,14743,14743,14743,14743,14743,14743,33865,Medullary peritubular capillaritis,HPO,phenotype,PHENOTYPE_14743
14744,14744,14744,14744,14744,14744,14744,14744,6000222,Painful defecation,HPO,phenotype,PHENOTYPE_14744
14745,14745,14745,14745,14745,14745,14745,14745,4039,Abnormal ulnar metaphysis morphology,HPO,phenotype,PHENOTYPE_14745
14746,14746,14746,14746,14746,14746,14746,14746,500112,Positive urine amphetamine test,HPO,phenotype,PHENOTYPE_14746
14747,14747,14747,14747,14747,14747,14747,14747,1999,Abnormal facial shape,HPO,phenotype,PHENOTYPE_14747
14748,14748,14748,14748,14748,14748,14748,14748,6366,Adductor longus contractures,HPO,phenotype,PHENOTYPE_14748
14749,14749,14749,14749,14749,14749,14749,14749,34631,Triggered by succinylcholine anesthetic,HPO,phenotype,PHENOTYPE_14749
14750,14750,14750,14750,14750,14750,14750,14750,40265,Upper limb muscle hypertrophy,HPO,phenotype,PHENOTYPE_14750
14751,14751,14751,14751,14751,14751,14751,14751,32520,Masseter muscular weakness,HPO,phenotype,PHENOTYPE_14751
14752,14752,14752,14752,14752,14752,14752,14752,30663,Optically empty vitreous,HPO,phenotype,PHENOTYPE_14752
14753,14753,14753,14753,14753,14753,14753,14753,9714,Abnormal epididymis morphology,HPO,phenotype,PHENOTYPE_14753
14754,14754,14754,14754,14754,14754,14754,14754,30564,Best corrected visual acuity 1.1 LogMAR,HPO,phenotype,PHENOTYPE_14754
14755,14755,14755,14755,14755,14755,14755,14755,5913,Abnormal metacarpal epiphysis morphology,HPO,phenotype,PHENOTYPE_14755
14756,14756,14756,14756,14756,14756,14756,14756,4814,Fava bean-induced hemolytic anemia,HPO,phenotype,PHENOTYPE_14756
14757,14757,14757,14757,14757,14757,14757,14757,12119,Methemoglobinemia,HPO,phenotype,PHENOTYPE_14757
14758,14758,14758,14758,14758,14758,14758,14758,30565,Best corrected visual acuity 1.2 LogMAR,HPO,phenotype,PHENOTYPE_14758
14759,14759,14759,14759,14759,14759,14759,14759,6192,Tapered phalanx of finger,HPO,phenotype,PHENOTYPE_14759
14760,14760,14760,14760,14760,14760,14760,14760,10061,Curved hallux phalanx,HPO,phenotype,PHENOTYPE_14760
14761,14761,14761,14761,14761,14761,14761,14761,9646,Patchy sclerosis of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_14761
14762,14762,14762,14762,14762,14762,14762,14762,237,Small anterior fontanelle,HPO,phenotype,PHENOTYPE_14762
14763,14763,14763,14763,14763,14763,14763,14763,410236,Increased anti-venom IgE antibody level,HPO,phenotype,PHENOTYPE_14763
14764,14764,14764,14764,14764,14764,14764,14764,6717,Peripheral neuroepithelioma,HPO,phenotype,PHENOTYPE_14764
14765,14765,14765,14765,14765,14765,14765,14765,40014,Increased mitochondrial number,HPO,phenotype,PHENOTYPE_14765
14766,14766,14766,14766,14766,14766,14766,14766,4622,Progressive intervertebral space narrowing,HPO,phenotype,PHENOTYPE_14766
14767,14767,14767,14767,14767,14767,14767,14767,10418,Patchy sclerosis of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_14767
14768,14768,14768,14768,14768,14768,14768,14768,9350,Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_14768
14769,14769,14769,14769,14769,14769,14769,14769,32801,Focal impaired awareness cognitive seizure with memory impairment,HPO,phenotype,PHENOTYPE_14769
14770,14770,14770,14770,14770,14770,14770,14770,11227,Elevated circulating C-reactive protein concentration,HPO,phenotype,PHENOTYPE_14770
14771,14771,14771,14771,14771,14771,14771,14771,6775,Multiple myeloma,HPO,phenotype,PHENOTYPE_14771
14772,14772,14772,14772,14772,14772,14772,14772,20273,High lymph node non-germinal center mitotic activity,HPO,phenotype,PHENOTYPE_14772
14773,14773,14773,14773,14773,14773,14773,14773,200066,Ribbonlike corneal degeneration,HPO,phenotype,PHENOTYPE_14773
14774,14774,14774,14774,14774,14774,14774,14774,1052,Nevus flammeus,HPO,phenotype,PHENOTYPE_14774
14775,14775,14775,14775,14775,14775,14775,14775,25436,Elevated serum 11-deoxycortisol,HPO,phenotype,PHENOTYPE_14775
14776,14776,14776,14776,14776,14776,14776,14776,25395,Combined cystic and ground-glass pattern on pulmonary HRCT,HPO,phenotype,PHENOTYPE_14776
14777,14777,14777,14777,14777,14777,14777,14777,2356,Writer's cramp,HPO,phenotype,PHENOTYPE_14777
14778,14778,14778,14778,14778,14778,14778,14778,32583,Renal glomerular foam cells,HPO,phenotype,PHENOTYPE_14778
14779,14779,14779,14779,14779,14779,14779,14779,8541,Superiorly displaced ears,HPO,phenotype,PHENOTYPE_14779
14780,14780,14780,14780,14780,14780,14780,14780,33283,Segmentally thickened glomerular basement membrane,HPO,phenotype,PHENOTYPE_14780
14781,14781,14781,14781,14781,14781,14781,14781,12656,Reduced CSF dopamine concentration,HPO,phenotype,PHENOTYPE_14781
14782,14782,14782,14782,14782,14782,14782,14782,6001141,Anterior shoulder pain,HPO,phenotype,PHENOTYPE_14782
14783,14783,14783,14783,14783,14783,14783,14783,31760,Non-accomodative esotropia,HPO,phenotype,PHENOTYPE_14783
14784,14784,14784,14784,14784,14784,14784,14784,500107,Isolated diastolic hypotension,HPO,phenotype,PHENOTYPE_14784
14785,14785,14785,14785,14785,14785,14785,14785,6467,Limited shoulder movement,HPO,phenotype,PHENOTYPE_14785
14786,14786,14786,14786,14786,14786,14786,14786,11504,Bull's eye maculopathy,HPO,phenotype,PHENOTYPE_14786
14787,14787,14787,14787,14787,14787,14787,14787,3142,Excessive purine production,HPO,phenotype,PHENOTYPE_14787
14788,14788,14788,14788,14788,14788,14788,14788,12440,Abnormal biliary tract morphology,HPO,phenotype,PHENOTYPE_14788
14789,14789,14789,14789,14789,14789,14789,14789,3858,Cortical diaphyseal irregularity of the upper limbs,HPO,phenotype,PHENOTYPE_14789
14790,14790,14790,14790,14790,14790,14790,14790,11669,Left superior vena cava draining directly to the left atrium,HPO,phenotype,PHENOTYPE_14790
14791,14791,14791,14791,14791,14791,14791,14791,9466,Radial deviation of finger,HPO,phenotype,PHENOTYPE_14791
14792,14792,14792,14792,14792,14792,14792,14792,34064,Anti-salivary protein antibody positivity,HPO,phenotype,PHENOTYPE_14792
14793,14793,14793,14793,14793,14793,14793,14793,30202,Favorable response of weakness to acetylcholine esterase inhibitors,HPO,phenotype,PHENOTYPE_14793
14794,14794,14794,14794,14794,14794,14794,14794,2576,Intussusception,HPO,phenotype,PHENOTYPE_14794
14795,14795,14795,14795,14795,14795,14795,14795,10151,Cone-shaped epiphysis of the 1st metatarsal,HPO,phenotype,PHENOTYPE_14795
14796,14796,14796,14796,14796,14796,14796,14796,10857,EEG with periodic abnormalities,HPO,phenotype,PHENOTYPE_14796
14797,14797,14797,14797,14797,14797,14797,14797,12419,Hyperoxemia,HPO,phenotype,PHENOTYPE_14797
14798,14798,14798,14798,14798,14798,14798,14798,40267,Distal upper limb muscle hypertrophy,HPO,phenotype,PHENOTYPE_14798
14799,14799,14799,14799,14799,14799,14799,14799,33793,Triggered by food ingestion,HPO,phenotype,PHENOTYPE_14799
14800,14800,14800,14800,14800,14800,14800,14800,3568,Decreased glucosephosphate isomerase level,HPO,phenotype,PHENOTYPE_14800
14801,14801,14801,14801,14801,14801,14801,14801,25769,Disordered formal thought process,HPO,phenotype,PHENOTYPE_14801
14802,14802,14802,14802,14802,14802,14802,14802,11711,Left anterior fascicular block,HPO,phenotype,PHENOTYPE_14802
14803,14803,14803,14803,14803,14803,14803,14803,25407,Rectourethral fistula,HPO,phenotype,PHENOTYPE_14803
14804,14804,14804,14804,14804,14804,14804,14804,4000150,Multinucleated neuron,HPO,phenotype,PHENOTYPE_14804
14805,14805,14805,14805,14805,14805,14805,14805,33621,Bronchial diverticula,HPO,phenotype,PHENOTYPE_14805
14806,14806,14806,14806,14806,14806,14806,14806,2665,Lymphoma,HPO,phenotype,PHENOTYPE_14806
14807,14807,14807,14807,14807,14807,14807,14807,4000162,Decreased Succinyl-CoA 3-ketoacid CoA transferase activity,HPO,phenotype,PHENOTYPE_14807
14808,14808,14808,14808,14808,14808,14808,14808,34782,Obstipation,HPO,phenotype,PHENOTYPE_14808
14809,14809,14809,14809,14809,14809,14809,14809,100304,Muscle fiber intranuclear inclusion bodies,HPO,phenotype,PHENOTYPE_14809
14810,14810,14810,14810,14810,14810,14810,14810,33744,Global cerebellar dysplasia,HPO,phenotype,PHENOTYPE_14810
14811,14811,14811,14811,14811,14811,14811,14811,10189,Osteolytic defects of the distal phalanges of the toes,HPO,phenotype,PHENOTYPE_14811
14812,14812,14812,14812,14812,14812,14812,14812,7042,Focal white matter lesions,HPO,phenotype,PHENOTYPE_14812
14813,14813,14813,14813,14813,14813,14813,14813,10400,Patchy sclerosis of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_14813
14814,14814,14814,14814,14814,14814,14814,14814,2918,Hypermagnesemia,HPO,phenotype,PHENOTYPE_14814
14815,14815,14815,14815,14815,14815,14815,14815,10943,Echogenic fetal bowel,HPO,phenotype,PHENOTYPE_14815
14816,14816,14816,14816,14816,14816,14816,14816,32454,Labial melanotic macule,HPO,phenotype,PHENOTYPE_14816
14817,14817,14817,14817,14817,14817,14817,14817,33034,Anti-citrullinated protein antibody positivity,HPO,phenotype,PHENOTYPE_14817
14818,14818,14818,14818,14818,14818,14818,14818,8489,Spondylolisthesis at L5-S1,HPO,phenotype,PHENOTYPE_14818
14819,14819,14819,14819,14819,14819,14819,14819,6587,Straight clavicles,HPO,phenotype,PHENOTYPE_14819
14820,14820,14820,14820,14820,14820,14820,14820,12016,EEG with occipital focal spikes,HPO,phenotype,PHENOTYPE_14820
14821,14821,14821,14821,14821,14821,14821,14821,7479,Congenital nonbullous ichthyosiform erythroderma,HPO,phenotype,PHENOTYPE_14821
14822,14822,14822,14822,14822,14822,14822,14822,11145,Symptomatic seizures,HPO,phenotype,PHENOTYPE_14822
14823,14823,14823,14823,14823,14823,14823,14823,34243,Abnormal fetal pulmonary morphology,HPO,phenotype,PHENOTYPE_14823
14824,14824,14824,14824,14824,14824,14824,14824,4450,Preauricular skin furrow,HPO,phenotype,PHENOTYPE_14824
14825,14825,14825,14825,14825,14825,14825,14825,8607,Progressive conductive hearing impairment,HPO,phenotype,PHENOTYPE_14825
14826,14826,14826,14826,14826,14826,14826,14826,410287,Intrathoracic hemangioma,HPO,phenotype,PHENOTYPE_14826
14827,14827,14827,14827,14827,14827,14827,14827,31045,Acral blistering,HPO,phenotype,PHENOTYPE_14827
14828,14828,14828,14828,14828,14828,14828,14828,911,Flat glenoid fossa,HPO,phenotype,PHENOTYPE_14828
14829,14829,14829,14829,14829,14829,14829,14829,25696,Airway casts,HPO,phenotype,PHENOTYPE_14829
14830,14830,14830,14830,14830,14830,14830,14830,30438,Anal canal squamous cell carcinoma,HPO,phenotype,PHENOTYPE_14830
14831,14831,14831,14831,14831,14831,14831,14831,410373,Abnormal proportion of naive CD4 T cells,HPO,phenotype,PHENOTYPE_14831
14832,14832,14832,14832,14832,14832,14832,14832,1248,Short tubular bones of the hand,HPO,phenotype,PHENOTYPE_14832
14833,14833,14833,14833,14833,14833,14833,14833,6685,Endocardial fibrosis,HPO,phenotype,PHENOTYPE_14833
14834,14834,14834,14834,14834,14834,14834,14834,33491,Global mesangial sclerosis,HPO,phenotype,PHENOTYPE_14834
14835,14835,14835,14835,14835,14835,14835,14835,5200362,Short NREM sleep,HPO,phenotype,PHENOTYPE_14835
14836,14836,14836,14836,14836,14836,14836,14836,7774,Hypoplasia of the ciliary body,HPO,phenotype,PHENOTYPE_14836
14837,14837,14837,14837,14837,14837,14837,14837,8372,Abnormal circulating vitamin A concentration,HPO,phenotype,PHENOTYPE_14837
14838,14838,14838,14838,14838,14838,14838,14838,34868,Entamoeba histolytica antibody positive in stool,HPO,phenotype,PHENOTYPE_14838
14839,14839,14839,14839,14839,14839,14839,14839,11409,Abnormal placental membrane morphology,HPO,phenotype,PHENOTYPE_14839
14840,14840,14840,14840,14840,14840,14840,14840,6176,Two carpal ossification centers present at birth,HPO,phenotype,PHENOTYPE_14840
14841,14841,14841,14841,14841,14841,14841,14841,11240,Prominent stem of antihelix,HPO,phenotype,PHENOTYPE_14841
14842,14842,14842,14842,14842,14842,14842,14842,12253,Abnormal respiratory epithelium morphology,HPO,phenotype,PHENOTYPE_14842
14843,14843,14843,14843,14843,14843,14843,14843,34713,Abnormal hepatocyte morphology,HPO,phenotype,PHENOTYPE_14843
14844,14844,14844,14844,14844,14844,14844,14844,10882,Pulmonary valve atresia,HPO,phenotype,PHENOTYPE_14844
14845,14845,14845,14845,14845,14845,14845,14845,12212,Abnormal glomerular filtration rate,HPO,phenotype,PHENOTYPE_14845
14846,14846,14846,14846,14846,14846,14846,14846,32596,Renal tubular epithelial cell cytoplasmic vacuolization,HPO,phenotype,PHENOTYPE_14846
14847,14847,14847,14847,14847,14847,14847,14847,11330,Metopic synostosis,HPO,phenotype,PHENOTYPE_14847
14848,14848,14848,14848,14848,14848,14848,14848,7576,Palmar neurofibroma,HPO,phenotype,PHENOTYPE_14848
14849,14849,14849,14849,14849,14849,14849,14849,4713,Reversible renal failure,HPO,phenotype,PHENOTYPE_14849
14850,14850,14850,14850,14850,14850,14850,14850,32480,Beta-aminoisobutyric aciduria,HPO,phenotype,PHENOTYPE_14850
14851,14851,14851,14851,14851,14851,14851,14851,100040,Broad 2nd toe,HPO,phenotype,PHENOTYPE_14851
14852,14852,14852,14852,14852,14852,14852,14852,100639,Erectile dysfunction,HPO,phenotype,PHENOTYPE_14852
14853,14853,14853,14853,14853,14853,14853,14853,8150,Elevated serum transaminases during infections,HPO,phenotype,PHENOTYPE_14853
14854,14854,14854,14854,14854,14854,14854,14854,500271,Decreased proportion of gamma-delta T cells,HPO,phenotype,PHENOTYPE_14854
14855,14855,14855,14855,14855,14855,14855,14855,32285,Ultra-low vision with retained light projection,HPO,phenotype,PHENOTYPE_14855
14856,14856,14856,14856,14856,14856,14856,14856,32468,History of stillbirth,HPO,phenotype,PHENOTYPE_14856
14857,14857,14857,14857,14857,14857,14857,14857,9396,Enlarged epiphyses of the 4th finger,HPO,phenotype,PHENOTYPE_14857
14858,14858,14858,14858,14858,14858,14858,14858,609,Optic nerve hypoplasia,HPO,phenotype,PHENOTYPE_14858
14859,14859,14859,14859,14859,14859,14859,14859,10926,Aculeiform cataract,HPO,phenotype,PHENOTYPE_14859
14860,14860,14860,14860,14860,14860,14860,14860,6000263,Papillary dermal edema,HPO,phenotype,PHENOTYPE_14860
14861,14861,14861,14861,14861,14861,14861,14861,25083,Elevated dermal desmosine content,HPO,phenotype,PHENOTYPE_14861
14862,14862,14862,14862,14862,14862,14862,14862,6000364,Synovial cyst,HPO,phenotype,PHENOTYPE_14862
14863,14863,14863,14863,14863,14863,14863,14863,8188,Thyroid dysgenesis,HPO,phenotype,PHENOTYPE_14863
14864,14864,14864,14864,14864,14864,14864,14864,7201,Cerebral artery atherosclerosis,HPO,phenotype,PHENOTYPE_14864
14865,14865,14865,14865,14865,14865,14865,14865,31255,Hypothalamic arteriovenous malformation,HPO,phenotype,PHENOTYPE_14865
14866,14866,14866,14866,14866,14866,14866,14866,41075,Chronic partially decreased circulating IgG3,HPO,phenotype,PHENOTYPE_14866
14867,14867,14867,14867,14867,14867,14867,14867,31088,Vaginal dryness,HPO,phenotype,PHENOTYPE_14867
14868,14868,14868,14868,14868,14868,14868,14868,434,Nasal mucosa telangiectasia,HPO,phenotype,PHENOTYPE_14868
14869,14869,14869,14869,14869,14869,14869,14869,500273,Increased proportion of immature gamma-delta T cells,HPO,phenotype,PHENOTYPE_14869
14870,14870,14870,14870,14870,14870,14870,14870,32565,Vaginal mucosal ulceration,HPO,phenotype,PHENOTYPE_14870
14871,14871,14871,14871,14871,14871,14871,14871,9164,Abnormal calcification of the carpal bones,HPO,phenotype,PHENOTYPE_14871
14872,14872,14872,14872,14872,14872,14872,14872,6000289,Epiglottic enlargement,HPO,phenotype,PHENOTYPE_14872
14873,14873,14873,14873,14873,14873,14873,14873,6000877,Anti-dachshund family transcription factor 1 antibody positivity,HPO,phenotype,PHENOTYPE_14873
14874,14874,14874,14874,14874,14874,14874,14874,33774,Impaired renal tubular reabsorption of uric acid,HPO,phenotype,PHENOTYPE_14874
14875,14875,14875,14875,14875,14875,14875,14875,1449,Duplication of metatarsal bones,HPO,phenotype,PHENOTYPE_14875
14876,14876,14876,14876,14876,14876,14876,14876,32248,Persistent viremia,HPO,phenotype,PHENOTYPE_14876
14877,14877,14877,14877,14877,14877,14877,14877,10518,Thyroglossal cyst,HPO,phenotype,PHENOTYPE_14877
14878,14878,14878,14878,14878,14878,14878,14878,8655,Aplasia/Hypoplasia of the fallopian tube,HPO,phenotype,PHENOTYPE_14878
14879,14879,14879,14879,14879,14879,14879,14879,4000153,Cervical squamous cell papilloma,HPO,phenotype,PHENOTYPE_14879
14880,14880,14880,14880,14880,14880,14880,14880,2677,Small foramen magnum,HPO,phenotype,PHENOTYPE_14880
14881,14881,14881,14881,14881,14881,14881,14881,5209,Intrahepatic bile duct cysts,HPO,phenotype,PHENOTYPE_14881
14882,14882,14882,14882,14882,14882,14882,14882,3270,Abdominal distention,HPO,phenotype,PHENOTYPE_14882
14883,14883,14883,14883,14883,14883,14883,14883,1697,Abnormal pericardium morphology,HPO,phenotype,PHENOTYPE_14883
14884,14884,14884,14884,14884,14884,14884,14884,31910,Abnormal cranial nerve physiology,HPO,phenotype,PHENOTYPE_14884
14885,14885,14885,14885,14885,14885,14885,14885,2289,Alopecia universalis,HPO,phenotype,PHENOTYPE_14885
14886,14886,14886,14886,14886,14886,14886,14886,6185,Enlarged proximal interphalangeal joints,HPO,phenotype,PHENOTYPE_14886
14887,14887,14887,14887,14887,14887,14887,14887,7421,Telangiectases of the cheeks,HPO,phenotype,PHENOTYPE_14887
14888,14888,14888,14888,14888,14888,14888,14888,35029,Elevated circulating 3-hydroxyhexanoylcarnitine concentration,HPO,phenotype,PHENOTYPE_14888
14889,14889,14889,14889,14889,14889,14889,14889,9238,Aplasia of the 5th finger,HPO,phenotype,PHENOTYPE_14889
14890,14890,14890,14890,14890,14890,14890,14890,11151,Atypical absence status epilepticus,HPO,phenotype,PHENOTYPE_14890
14891,14891,14891,14891,14891,14891,14891,14891,100903,Sclerosis of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_14891
14892,14892,14892,14892,14892,14892,14892,14892,12496,Reduced maximal inspiratory pressure,HPO,phenotype,PHENOTYPE_14892
14893,14893,14893,14893,14893,14893,14893,14893,34559,Cardiac rhabdoid tumor,HPO,phenotype,PHENOTYPE_14893
14894,14894,14894,14894,14894,14894,14894,14894,20089,Post-vaccination rubella,HPO,phenotype,PHENOTYPE_14894
14895,14895,14895,14895,14895,14895,14895,14895,11918,Clinodactyly of the 4th toe,HPO,phenotype,PHENOTYPE_14895
14896,14896,14896,14896,14896,14896,14896,14896,7881,Central corneal dystrophy,HPO,phenotype,PHENOTYPE_14896
14897,14897,14897,14897,14897,14897,14897,14897,7814,Retinal pigment epithelial mottling,HPO,phenotype,PHENOTYPE_14897
14898,14898,14898,14898,14898,14898,14898,14898,10798,Lip freckle,HPO,phenotype,PHENOTYPE_14898
14899,14899,14899,14899,14899,14899,14899,14899,3083,Dislocated radial head,HPO,phenotype,PHENOTYPE_14899
14900,14900,14900,14900,14900,14900,14900,14900,430120,Nasal secretion neutrophilia,HPO,phenotype,PHENOTYPE_14900
14901,14901,14901,14901,14901,14901,14901,14901,30330,Multinucleated giant chondrocytes in epiphyseal cartilage,HPO,phenotype,PHENOTYPE_14901
14902,14902,14902,14902,14902,14902,14902,14902,1890,Autoimmune hemolytic anemia,HPO,phenotype,PHENOTYPE_14902
14903,14903,14903,14903,14903,14903,14903,14903,1012,Multiple lipomas,HPO,phenotype,PHENOTYPE_14903
14904,14904,14904,14904,14904,14904,14904,14904,12558,Abnormal T3/T4 ratio,HPO,phenotype,PHENOTYPE_14904
14905,14905,14905,14905,14905,14905,14905,14905,1249,Intellectual disability,HPO,phenotype,PHENOTYPE_14905
14906,14906,14906,14906,14906,14906,14906,14906,4000135,5-fluorouracil exposure,HPO,phenotype,PHENOTYPE_14906
14907,14907,14907,14907,14907,14907,14907,14907,30597,Abnormal Humphrey SITA 24-2 perimetry test,HPO,phenotype,PHENOTYPE_14907
14908,14908,14908,14908,14908,14908,14908,14908,957,Cafe-au-lait spot,HPO,phenotype,PHENOTYPE_14908
14909,14909,14909,14909,14909,14909,14909,14909,11036,Abnormality of renal excretion,HPO,phenotype,PHENOTYPE_14909
14910,14910,14910,14910,14910,14910,14910,14910,6000150,Reduced F-wave amplitude,HPO,phenotype,PHENOTYPE_14910
14911,14911,14911,14911,14911,14911,14911,14911,30845,Heliotrope rash of eyelid,HPO,phenotype,PHENOTYPE_14911
14912,14912,14912,14912,14912,14912,14912,14912,2390,Spinal arteriovenous malformation,HPO,phenotype,PHENOTYPE_14912
14913,14913,14913,14913,14913,14913,14913,14913,10214,Contracture of the interphalangeal joint of the hallux,HPO,phenotype,PHENOTYPE_14913
14914,14914,14914,14914,14914,14914,14914,14914,33530,Increased cardiac index,HPO,phenotype,PHENOTYPE_14914
14915,14915,14915,14915,14915,14915,14915,14915,410279,Atrophic pituitary gland,HPO,phenotype,PHENOTYPE_14915
14916,14916,14916,14916,14916,14916,14916,14916,32792,Tonic seizure,HPO,phenotype,PHENOTYPE_14916
14917,14917,14917,14917,14917,14917,14917,14917,11708,Mobitz II atrioventricular block,HPO,phenotype,PHENOTYPE_14917
14918,14918,14918,14918,14918,14918,14918,14918,32531,Elevated CSF gamma-aminobutyric acid concentration,HPO,phenotype,PHENOTYPE_14918
14919,14919,14919,14919,14919,14919,14919,14919,410195,Decreased circulating UDP glucose-4-epimerase concentration,HPO,phenotype,PHENOTYPE_14919
14920,14920,14920,14920,14920,14920,14920,14920,2886,Vagal paraganglioma,HPO,phenotype,PHENOTYPE_14920
14921,14921,14921,14921,14921,14921,14921,14921,25700,Anhydramnios,HPO,phenotype,PHENOTYPE_14921
14922,14922,14922,14922,14922,14922,14922,14922,5200217,Depersonalization,HPO,phenotype,PHENOTYPE_14922
14923,14923,14923,14923,14923,14923,14923,14923,1266,Choreoathetosis,HPO,phenotype,PHENOTYPE_14923
14924,14924,14924,14924,14924,14924,14924,14924,11609,Type III truncus arteriosus,HPO,phenotype,PHENOTYPE_14924
14925,14925,14925,14925,14925,14925,14925,14925,10988,Abnormality of the extrinsic pathway,HPO,phenotype,PHENOTYPE_14925
14926,14926,14926,14926,14926,14926,14926,14926,3654,Reduced dihydropyrimidine dehydrogenase level,HPO,phenotype,PHENOTYPE_14926
14927,14927,14927,14927,14927,14927,14927,14927,33446,Elevated circulating butyrylcarnitine concentration,HPO,phenotype,PHENOTYPE_14927
14928,14928,14928,14928,14928,14928,14928,14928,34084,Anti-phosphatidyl ethanolamine antibody positivity,HPO,phenotype,PHENOTYPE_14928
14929,14929,14929,14929,14929,14929,14929,14929,30901,Pruritis on breast,HPO,phenotype,PHENOTYPE_14929
14930,14930,14930,14930,14930,14930,14930,14930,5200267,Leaden paralysis,HPO,phenotype,PHENOTYPE_14930
14931,14931,14931,14931,14931,14931,14931,14931,33050,Pharyngalgia,HPO,phenotype,PHENOTYPE_14931
14932,14932,14932,14932,14932,14932,14932,14932,32407,Bilateral perisylvian polymicrogyria,HPO,phenotype,PHENOTYPE_14932
14933,14933,14933,14933,14933,14933,14933,14933,31306,Intracranial arterial calcification,HPO,phenotype,PHENOTYPE_14933
14934,14934,14934,14934,14934,14934,14934,14934,30119,Abnormal muscle fiber calpain-3,HPO,phenotype,PHENOTYPE_14934
14935,14935,14935,14935,14935,14935,14935,14935,5278,Hypoplastic nasal tip,HPO,phenotype,PHENOTYPE_14935
14936,14936,14936,14936,14936,14936,14936,14936,8162,Asymptomatic hyperammonemia,HPO,phenotype,PHENOTYPE_14936
14937,14937,14937,14937,14937,14937,14937,14937,10114,Bracket epiphyses of the hallux,HPO,phenotype,PHENOTYPE_14937
14938,14938,14938,14938,14938,14938,14938,14938,6000349,Reduced tissue tissue AICAR transformylase activity,HPO,phenotype,PHENOTYPE_14938
14939,14939,14939,14939,14939,14939,14939,14939,6000070,Cutaneous granuloma,HPO,phenotype,PHENOTYPE_14939
14940,14940,14940,14940,14940,14940,14940,14940,7334,Bilateral tonic-clonic seizure with focal onset,HPO,phenotype,PHENOTYPE_14940
14941,14941,14941,14941,14941,14941,14941,14941,34391,Elbow contracture,HPO,phenotype,PHENOTYPE_14941
14942,14942,14942,14942,14942,14942,14942,14942,3811,Neonatal death,HPO,phenotype,PHENOTYPE_14942
14943,14943,14943,14943,14943,14943,14943,14943,33221,Increased CD4:CD8 ratio,HPO,phenotype,PHENOTYPE_14943
14944,14944,14944,14944,14944,14944,14944,14944,33941,Granulomatous arteriolitis of the arteriolar intima/media,HPO,phenotype,PHENOTYPE_14944
14945,14945,14945,14945,14945,14945,14945,14945,31721,Sensory exotropia,HPO,phenotype,PHENOTYPE_14945
14946,14946,14946,14946,14946,14946,14946,14946,6001165,Abnormal retinal vein morphology,HPO,phenotype,PHENOTYPE_14946
14947,14947,14947,14947,14947,14947,14947,14947,25487,Abnormal bladder morphology,HPO,phenotype,PHENOTYPE_14947
14948,14948,14948,14948,14948,14948,14948,14948,5360,Susceptibility to chickenpox,HPO,phenotype,PHENOTYPE_14948
14949,14949,14949,14949,14949,14949,14949,14949,339,Pugilistic facies,HPO,phenotype,PHENOTYPE_14949
14950,14950,14950,14950,14950,14950,14950,14950,31683,Type VI atherosclerotic lesion,HPO,phenotype,PHENOTYPE_14950
14951,14951,14951,14951,14951,14951,14951,14951,12836,Spatial pattern,HPO,phenotype,PHENOTYPE_14951
14952,14952,14952,14952,14952,14952,14952,14952,100407,Complete duplication of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_14952
14953,14953,14953,14953,14953,14953,14953,14953,9087,Posteriorly placed tongue,HPO,phenotype,PHENOTYPE_14953
14954,14954,14954,14954,14954,14954,14954,14954,2633,Vasculitis,HPO,phenotype,PHENOTYPE_14954
14955,14955,14955,14955,14955,14955,14955,14955,100429,Broad proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_14955
14956,14956,14956,14956,14956,14956,14956,14956,31751,Lateral rectus muscle underaction,HPO,phenotype,PHENOTYPE_14956
14957,14957,14957,14957,14957,14957,14957,14957,33939,Renal arteriole intima/media liquefactive necrosis,HPO,phenotype,PHENOTYPE_14957
14958,14958,14958,14958,14958,14958,14958,14958,8249,Thyroid hyperplasia,HPO,phenotype,PHENOTYPE_14958
14959,14959,14959,14959,14959,14959,14959,14959,33721,EEG with centrotemporal epileptiform discharges,HPO,phenotype,PHENOTYPE_14959
14960,14960,14960,14960,14960,14960,14960,14960,10582,Irregular epiphyses,HPO,phenotype,PHENOTYPE_14960
14961,14961,14961,14961,14961,14961,14961,14961,11876,Abnormal platelet volume,HPO,phenotype,PHENOTYPE_14961
14962,14962,14962,14962,14962,14962,14962,14962,3000011,Abnormality of palatoglossus muscle,HPO,phenotype,PHENOTYPE_14962
14963,14963,14963,14963,14963,14963,14963,14963,2159,Heparan sulfate excretion in urine,HPO,phenotype,PHENOTYPE_14963
14964,14964,14964,14964,14964,14964,14964,14964,10498,Bipartite patella,HPO,phenotype,PHENOTYPE_14964
14965,14965,14965,14965,14965,14965,14965,14965,11888,Bleeding requiring red cell transfusion,HPO,phenotype,PHENOTYPE_14965
14966,14966,14966,14966,14966,14966,14966,14966,5072,Wrist hypermobility,HPO,phenotype,PHENOTYPE_14966
14967,14967,14967,14967,14967,14967,14967,14967,5200216,Abnormal perceptual state,HPO,phenotype,PHENOTYPE_14967
14968,14968,14968,14968,14968,14968,14968,14968,100371,Aplasia/Hypoplasia of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_14968
14969,14969,14969,14969,14969,14969,14969,14969,6000540,History of recent stay in area with inadequate sewage sanitation,HPO,phenotype,PHENOTYPE_14969
14970,14970,14970,14970,14970,14970,14970,14970,48,Bifid scrotum,HPO,phenotype,PHENOTYPE_14970
14971,14971,14971,14971,14971,14971,14971,14971,132,Menorrhagia,HPO,phenotype,PHENOTYPE_14971
14972,14972,14972,14972,14972,14972,14972,14972,32414,Hydroxylysinuria,HPO,phenotype,PHENOTYPE_14972
14973,14973,14973,14973,14973,14973,14973,14973,430021,Abnormal common carotid artery morphology,HPO,phenotype,PHENOTYPE_14973
14974,14974,14974,14974,14974,14974,14974,14974,11177,EEG with 4-5/second background activity,HPO,phenotype,PHENOTYPE_14974
14975,14975,14975,14975,14975,14975,14975,14975,6000888,Elevated urine bismuth level,HPO,phenotype,PHENOTYPE_14975
14976,14976,14976,14976,14976,14976,14976,14976,30838,Hip pain,HPO,phenotype,PHENOTYPE_14976
14977,14977,14977,14977,14977,14977,14977,14977,31365,Macular purpura,HPO,phenotype,PHENOTYPE_14977
14978,14978,14978,14978,14978,14978,14978,14978,8309,Medium chain dicarboxylic aciduria,HPO,phenotype,PHENOTYPE_14978
14979,14979,14979,14979,14979,14979,14979,14979,32015,Dysmetric horizontal saccades,HPO,phenotype,PHENOTYPE_14979
14980,14980,14980,14980,14980,14980,14980,14980,33062,Abnormal factor IX activity,HPO,phenotype,PHENOTYPE_14980
14981,14981,14981,14981,14981,14981,14981,14981,12134,Dysplastic erythropoesis,HPO,phenotype,PHENOTYPE_14981
14982,14982,14982,14982,14982,14982,14982,14982,34996,Reduced hepatic carbamoylphosphate synthetase 1 activity,HPO,phenotype,PHENOTYPE_14982
14983,14983,14983,14983,14983,14983,14983,14983,3849,Flared upper limb metaphysis,HPO,phenotype,PHENOTYPE_14983
14984,14984,14984,14984,14984,14984,14984,14984,7942,Internal ophthalmoplegia,HPO,phenotype,PHENOTYPE_14984
14985,14985,14985,14985,14985,14985,14985,14985,410400,Absent sebaceous glands,HPO,phenotype,PHENOTYPE_14985
14986,14986,14986,14986,14986,14986,14986,14986,11191,Unilateral multifocal epileptiform discharges,HPO,phenotype,PHENOTYPE_14986
14987,14987,14987,14987,14987,14987,14987,14987,1525,Severe failure to thrive,HPO,phenotype,PHENOTYPE_14987
14988,14988,14988,14988,14988,14988,14988,14988,5200263,Abnormally increased volition,HPO,phenotype,PHENOTYPE_14988
14989,14989,14989,14989,14989,14989,14989,14989,3969,Slender forearm bones,HPO,phenotype,PHENOTYPE_14989
14990,14990,14990,14990,14990,14990,14990,14990,10502,Fibular bowing,HPO,phenotype,PHENOTYPE_14990
14991,14991,14991,14991,14991,14991,14991,14991,33866,Medullary peritubular capillary erythrocyte congestion,HPO,phenotype,PHENOTYPE_14991
14992,14992,14992,14992,14992,14992,14992,14992,30239,Hypoplasia of the upper arm musculature,HPO,phenotype,PHENOTYPE_14992
14993,14993,14993,14993,14993,14993,14993,14993,25689,Extra-abdominal umbilical vein varix,HPO,phenotype,PHENOTYPE_14993
14994,14994,14994,14994,14994,14994,14994,14994,30383,Abnormal proportion of marginal zone B cells,HPO,phenotype,PHENOTYPE_14994
14995,14995,14995,14995,14995,14995,14995,14995,3164,Hypothalamic gonadotropin-releasing hormone deficiency,HPO,phenotype,PHENOTYPE_14995
14996,14996,14996,14996,14996,14996,14996,14996,33549,Nodular mesangiosclerosis,HPO,phenotype,PHENOTYPE_14996
14997,14997,14997,14997,14997,14997,14997,14997,45007,Abnormal substantia nigra morphology,HPO,phenotype,PHENOTYPE_14997
14998,14998,14998,14998,14998,14998,14998,14998,34214,Fetal intraventricular hemorrhage without ventriculomegaly,HPO,phenotype,PHENOTYPE_14998
14999,14999,14999,14999,14999,14999,14999,14999,1312,Giant somatosensory evoked potentials,HPO,phenotype,PHENOTYPE_14999
15000,15000,15000,15000,15000,15000,15000,15000,5200212,Amplification of social interactions,HPO,phenotype,PHENOTYPE_15000
15001,15001,15001,15001,15001,15001,15001,15001,32990,Localized pulmonary hemorrhage,HPO,phenotype,PHENOTYPE_15001
15002,15002,15002,15002,15002,15002,15002,15002,10658,Patchy changes of bone mineral density,HPO,phenotype,PHENOTYPE_15002
15003,15003,15003,15003,15003,15003,15003,15003,9470,Contracture of the metacarpophalangeal joint of the 3rd finger,HPO,phenotype,PHENOTYPE_15003
15004,15004,15004,15004,15004,15004,15004,15004,31786,Cogan lid twitch,HPO,phenotype,PHENOTYPE_15004
15005,15005,15005,15005,15005,15005,15005,15005,100742,Vascular neoplasm,HPO,phenotype,PHENOTYPE_15005
15006,15006,15006,15006,15006,15006,15006,15006,100495,Mastocytosis,HPO,phenotype,PHENOTYPE_15006
15007,15007,15007,15007,15007,15007,15007,15007,32337,Monoclonal elevated circulating IgE concentration,HPO,phenotype,PHENOTYPE_15007
15008,15008,15008,15008,15008,15008,15008,15008,12896,Abnormal motor evoked potentials,HPO,phenotype,PHENOTYPE_15008
15009,15009,15009,15009,15009,15009,15009,15009,10128,Bracket epiphysis of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_15009
15010,15010,15010,15010,15010,15010,15010,15010,34453,Hypoplastic umbilicus,HPO,phenotype,PHENOTYPE_15010
15011,15011,15011,15011,15011,15011,15011,15011,10931,Abnormal blood sodium concentration,HPO,phenotype,PHENOTYPE_15011
15012,15012,15012,15012,15012,15012,15012,15012,430112,Coprolalia,HPO,phenotype,PHENOTYPE_15012
15013,15013,15013,15013,15013,15013,15013,15013,8414,Lumbar kyphosis in infancy,HPO,phenotype,PHENOTYPE_15013
15014,15014,15014,15014,15014,15014,15014,15014,10433,Short distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_15014
15015,15015,15015,15015,15015,15015,15015,15015,33536,Reduced platelet alpha granules,HPO,phenotype,PHENOTYPE_15015
15016,15016,15016,15016,15016,15016,15016,15016,12377,Hemianopia,HPO,phenotype,PHENOTYPE_15016
15017,15017,15017,15017,15017,15017,15017,15017,34887,Increased urine phenylacetylglutamine level,HPO,phenotype,PHENOTYPE_15017
15018,15018,15018,15018,15018,15018,15018,15018,33932,Arcuate artery intima/media coagulative necrosis,HPO,phenotype,PHENOTYPE_15018
15019,15019,15019,15019,15019,15019,15019,15019,4347,Weakness of muscles of respiration,HPO,phenotype,PHENOTYPE_15019
15020,15020,15020,15020,15020,15020,15020,15020,4846,Prolonged bleeding after surgery,HPO,phenotype,PHENOTYPE_15020
15021,15021,15021,15021,15021,15021,15021,15021,34862,Reduced leukocyte steroid sulfatase activity,HPO,phenotype,PHENOTYPE_15021
15022,15022,15022,15022,15022,15022,15022,15022,31429,Decreased circulating osteocalcin level,HPO,phenotype,PHENOTYPE_15022
15023,15023,15023,15023,15023,15023,15023,15023,32568,Urinary mulberry cells,HPO,phenotype,PHENOTYPE_15023
15024,15024,15024,15024,15024,15024,15024,15024,699,Diastema,HPO,phenotype,PHENOTYPE_15024
15025,15025,15025,15025,15025,15025,15025,15025,34754,Bilious emesis,HPO,phenotype,PHENOTYPE_15025
15026,15026,15026,15026,15026,15026,15026,15026,34849,Fetal quinine exposure,HPO,phenotype,PHENOTYPE_15026
15027,15027,15027,15027,15027,15027,15027,15027,410061,Increased level of galactitol in plasma,HPO,phenotype,PHENOTYPE_15027
15028,15028,15028,15028,15028,15028,15028,15028,33937,Cortical radial artery intima/media coagulative necrosis,HPO,phenotype,PHENOTYPE_15028
15029,15029,15029,15029,15029,15029,15029,15029,25457,Decreased CSF protein concentration,HPO,phenotype,PHENOTYPE_15029
15030,15030,15030,15030,15030,15030,15030,15030,11757,Posterior pituitary hypoplasia,HPO,phenotype,PHENOTYPE_15030
15031,15031,15031,15031,15031,15031,15031,15031,5639,Hyperextensible hand joints,HPO,phenotype,PHENOTYPE_15031
15032,15032,15032,15032,15032,15032,15032,15032,8496,Multiple rows of eyelashes,HPO,phenotype,PHENOTYPE_15032
15033,15033,15033,15033,15033,15033,15033,15033,4445,Elliptocytosis,HPO,phenotype,PHENOTYPE_15033
15034,15034,15034,15034,15034,15034,15034,15034,2257,Chronic rhinitis,HPO,phenotype,PHENOTYPE_15034
15035,15035,15035,15035,15035,15035,15035,15035,10571,Elevated circulating phytanic acid concentration,HPO,phenotype,PHENOTYPE_15035
15036,15036,15036,15036,15036,15036,15036,15036,10468,Aplasia/Hypoplasia of the testes,HPO,phenotype,PHENOTYPE_15036
15037,15037,15037,15037,15037,15037,15037,15037,500059,Retinopathy of prematurity zone I,HPO,phenotype,PHENOTYPE_15037
15038,15038,15038,15038,15038,15038,15038,15038,34058,Abnormal fetal morphology,HPO,phenotype,PHENOTYPE_15038
15039,15039,15039,15039,15039,15039,15039,15039,32394,Mesial parasagittal subcortical heterotopia,HPO,phenotype,PHENOTYPE_15039
15040,15040,15040,15040,15040,15040,15040,15040,3899,Round humeral epiphyses,HPO,phenotype,PHENOTYPE_15040
15041,15041,15041,15041,15041,15041,15041,15041,34312,Nocturnal hypoxemia,HPO,phenotype,PHENOTYPE_15041
15042,15042,15042,15042,15042,15042,15042,15042,25573,Mild myopia,HPO,phenotype,PHENOTYPE_15042
15043,15043,15043,15043,15043,15043,15043,15043,430091,Marker expression,HPO,phenotype,PHENOTYPE_15043
15044,15044,15044,15044,15044,15044,15044,15044,817,Reduced eye contact,HPO,phenotype,PHENOTYPE_15044
15045,15045,15045,15045,15045,15045,15045,15045,32775,Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration,HPO,phenotype,PHENOTYPE_15045
15046,15046,15046,15046,15046,15046,15046,15046,11160,Focal sensory seizure with gustatory features,HPO,phenotype,PHENOTYPE_15046
15047,15047,15047,15047,15047,15047,15047,15047,4008,Sloping radial epiphyses,HPO,phenotype,PHENOTYPE_15047
15048,15048,15048,15048,15048,15048,15048,15048,12458,Medial calcification of small arteries,HPO,phenotype,PHENOTYPE_15048
15049,15049,15049,15049,15049,15049,15049,15049,32731,Focal aware hyperkinetic seizure,HPO,phenotype,PHENOTYPE_15049
15050,15050,15050,15050,15050,15050,15050,15050,32876,Focal aware cognitive seizure with conduction dysphasia/aphasia,HPO,phenotype,PHENOTYPE_15050
15051,15051,15051,15051,15051,15051,15051,15051,32755,Focal impaired awareness autonomic seizure,HPO,phenotype,PHENOTYPE_15051
15052,15052,15052,15052,15052,15052,15052,15052,33069,Renal interstitial IgG4+ plasma cell infiltration,HPO,phenotype,PHENOTYPE_15052
15053,15053,15053,15053,15053,15053,15053,15053,9785,Triceps aplasia,HPO,phenotype,PHENOTYPE_15053
15054,15054,15054,15054,15054,15054,15054,15054,32780,Focal impaired awareness autonomic seizure with erection,HPO,phenotype,PHENOTYPE_15054
15055,15055,15055,15055,15055,15055,15055,15055,34662,Elevated urine 2-methylcitric acid level,HPO,phenotype,PHENOTYPE_15055
15056,15056,15056,15056,15056,15056,15056,15056,4000109,Triggered by electromagnetic field,HPO,phenotype,PHENOTYPE_15056
15057,15057,15057,15057,15057,15057,15057,15057,4000200,Reduced holocarboxylase synthetase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_15057
15058,15058,15058,15058,15058,15058,15058,15058,33801,Blistering by histological location,HPO,phenotype,PHENOTYPE_15058
15059,15059,15059,15059,15059,15059,15059,15059,34734,Elevated CSF argininosuccinic acid concentration,HPO,phenotype,PHENOTYPE_15059
15060,15060,15060,15060,15060,15060,15060,15060,10395,Aplasia/hypoplasia of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_15060
15061,15061,15061,15061,15061,15061,15061,15061,30348,Increased circulating androgen concentration,HPO,phenotype,PHENOTYPE_15061
15062,15062,15062,15062,15062,15062,15062,15062,7402,Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines,HPO,phenotype,PHENOTYPE_15062
15063,15063,15063,15063,15063,15063,15063,15063,6000569,Midline notching of lower lip,HPO,phenotype,PHENOTYPE_15063
15064,15064,15064,15064,15064,15064,15064,15064,33812,Decreased circulating androstenedione concentration,HPO,phenotype,PHENOTYPE_15064
15065,15065,15065,15065,15065,15065,15065,15065,6986,Upper limb spasticity,HPO,phenotype,PHENOTYPE_15065
15066,15066,15066,15066,15066,15066,15066,15066,32149,Breakthrough pain,HPO,phenotype,PHENOTYPE_15066
15067,15067,15067,15067,15067,15067,15067,15067,410027,Alveolar bone loss around teeth,HPO,phenotype,PHENOTYPE_15067
15068,15068,15068,15068,15068,15068,15068,15068,7490,Linear arrays of macular hyperkeratoses in flexural areas,HPO,phenotype,PHENOTYPE_15068
15069,15069,15069,15069,15069,15069,15069,15069,6000162,Excessive licorice consumption,HPO,phenotype,PHENOTYPE_15069
15070,15070,15070,15070,15070,15070,15070,15070,7505,Progressive hyperpigmentation,HPO,phenotype,PHENOTYPE_15070
15071,15071,15071,15071,15071,15071,15071,15071,12514,Lower limb pain,HPO,phenotype,PHENOTYPE_15071
15072,15072,15072,15072,15072,15072,15072,15072,6000939,Thumb hypoplasia grade 2,HPO,phenotype,PHENOTYPE_15072
15073,15073,15073,15073,15073,15073,15073,15073,10833,Spontaneous pain sensation,HPO,phenotype,PHENOTYPE_15073
15074,15074,15074,15074,15074,15074,15074,15074,1018,Abnormal palmar dermatoglyphics,HPO,phenotype,PHENOTYPE_15074
15075,15075,15075,15075,15075,15075,15075,15075,9904,Prominent ear helix,HPO,phenotype,PHENOTYPE_15075
15076,15076,15076,15076,15076,15076,15076,15076,30006,Single fiber EMG abnormality,HPO,phenotype,PHENOTYPE_15076
15077,15077,15077,15077,15077,15077,15077,15077,100885,Lateral venous anomaly,HPO,phenotype,PHENOTYPE_15077
15078,15078,15078,15078,15078,15078,15078,15078,12545,Reduced circulating aldolase concentration,HPO,phenotype,PHENOTYPE_15078
15079,15079,15079,15079,15079,15079,15079,15079,10437,Short proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_15079
15080,15080,15080,15080,15080,15080,15080,15080,100887,Abnormality of globe size,HPO,phenotype,PHENOTYPE_15080
15081,15081,15081,15081,15081,15081,15081,15081,33823,Mediastinal mass,HPO,phenotype,PHENOTYPE_15081
15082,15082,15082,15082,15082,15082,15082,15082,32736,Focal emotional seizure with anger,HPO,phenotype,PHENOTYPE_15082
15083,15083,15083,15083,15083,15083,15083,15083,7238,Nonarteriosclerotic cerebral calcification,HPO,phenotype,PHENOTYPE_15083
15084,15084,15084,15084,15084,15084,15084,15084,410275,Lumbosacral hemangioma,HPO,phenotype,PHENOTYPE_15084
15085,15085,15085,15085,15085,15085,15085,15085,32123,Ultra-low vision,HPO,phenotype,PHENOTYPE_15085
15086,15086,15086,15086,15086,15086,15086,15086,100230,Ivory epiphysis of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_15086
15087,15087,15087,15087,15087,15087,15087,15087,32752,Focal impaired awareness emotional seizure with fear/anxiety/panic,HPO,phenotype,PHENOTYPE_15087
15088,15088,15088,15088,15088,15088,15088,15088,30321,Abnormal vertebral artery morphology,HPO,phenotype,PHENOTYPE_15088
15089,15089,15089,15089,15089,15089,15089,15089,25666,Very preterm birth,HPO,phenotype,PHENOTYPE_15089
15090,15090,15090,15090,15090,15090,15090,15090,6000954,Positive peritoneal fluid bacterial culture,HPO,phenotype,PHENOTYPE_15090
15091,15091,15091,15091,15091,15091,15091,15091,11030,Abnormal blood transition element cation concentration,HPO,phenotype,PHENOTYPE_15091
15092,15092,15092,15092,15092,15092,15092,15092,2232,Patchy alopecia,HPO,phenotype,PHENOTYPE_15092
15093,15093,15093,15093,15093,15093,15093,15093,7394,Prominent superficial blood vessels,HPO,phenotype,PHENOTYPE_15093
15094,15094,15094,15094,15094,15094,15094,15094,4218,Symphalangism of the 5th finger,HPO,phenotype,PHENOTYPE_15094
15095,15095,15095,15095,15095,15095,15095,15095,34125,Anti-GD1b IgM antibody positivity,HPO,phenotype,PHENOTYPE_15095
15096,15096,15096,15096,15096,15096,15096,15096,40256,Aplastic/Hypoplastic nasopharyngeal adenoids,HPO,phenotype,PHENOTYPE_15096
15097,15097,15097,15097,15097,15097,15097,15097,12515,Hip flexor weakness,HPO,phenotype,PHENOTYPE_15097
15098,15098,15098,15098,15098,15098,15098,15098,2808,Kyphosis,HPO,phenotype,PHENOTYPE_15098
15099,15099,15099,15099,15099,15099,15099,15099,33768,Penile thrush,HPO,phenotype,PHENOTYPE_15099
15100,15100,15100,15100,15100,15100,15100,15100,12752,Focal T2 hypointense basal ganglia lesion,HPO,phenotype,PHENOTYPE_15100
15101,15101,15101,15101,15101,15101,15101,15101,10830,Impaired tactile sensation,HPO,phenotype,PHENOTYPE_15101
15102,15102,15102,15102,15102,15102,15102,15102,25393,Reticulonodular pattern on pulmonary HRCT,HPO,phenotype,PHENOTYPE_15102
15103,15103,15103,15103,15103,15103,15103,15103,100213,Absent epiphysis of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_15103
15104,15104,15104,15104,15104,15104,15104,15104,33053,Pseudoseizure,HPO,phenotype,PHENOTYPE_15104
15105,15105,15105,15105,15105,15105,15105,15105,2986,Radial bowing,HPO,phenotype,PHENOTYPE_15105
15106,15106,15106,15106,15106,15106,15106,15106,5200297,Abnormal hypnopompia,HPO,phenotype,PHENOTYPE_15106
15107,15107,15107,15107,15107,15107,15107,15107,3517,Birth length greater than 97th percentile,HPO,phenotype,PHENOTYPE_15107
15108,15108,15108,15108,15108,15108,15108,15108,34872,Decreased CSF epinephrine concentration,HPO,phenotype,PHENOTYPE_15108
15109,15109,15109,15109,15109,15109,15109,15109,12867,Abnormal sperm mid-piece morphology,HPO,phenotype,PHENOTYPE_15109
15110,15110,15110,15110,15110,15110,15110,15110,45002,Absent ossification of the trapezium,HPO,phenotype,PHENOTYPE_15110
15111,15111,15111,15111,15111,15111,15111,15111,32620,Intrarenal abscess,HPO,phenotype,PHENOTYPE_15111
15112,15112,15112,15112,15112,15112,15112,15112,34264,Postcoital vaginal bleeding,HPO,phenotype,PHENOTYPE_15112
15113,15113,15113,15113,15113,15113,15113,15113,12523,Oral aversion,HPO,phenotype,PHENOTYPE_15113
15114,15114,15114,15114,15114,15114,15114,15114,1405,Periportal fibrosis,HPO,phenotype,PHENOTYPE_15114
15115,15115,15115,15115,15115,15115,15115,15115,31899,Abnormal coagulation factor V activity,HPO,phenotype,PHENOTYPE_15115
15116,15116,15116,15116,15116,15116,15116,15116,3345,Elevated urinary norepinephrine level,HPO,phenotype,PHENOTYPE_15116
15117,15117,15117,15117,15117,15117,15117,15117,20157,Thin zona pellucida,HPO,phenotype,PHENOTYPE_15117
15118,15118,15118,15118,15118,15118,15118,15118,40164,Lipomas of eyelids,HPO,phenotype,PHENOTYPE_15118
15119,15119,15119,15119,15119,15119,15119,15119,5104,Hypoplastic nasal septum,HPO,phenotype,PHENOTYPE_15119
15120,15120,15120,15120,15120,15120,15120,15120,25318,Ovarian carcinoma,HPO,phenotype,PHENOTYPE_15120
15121,15121,15121,15121,15121,15121,15121,15121,6521,Pulmonary lymphangiectasia,HPO,phenotype,PHENOTYPE_15121
15122,15122,15122,15122,15122,15122,15122,15122,31309,Cerebral artery calcification,HPO,phenotype,PHENOTYPE_15122
15123,15123,15123,15123,15123,15123,15123,15123,31342,Duodenal arteriovenous malformation,HPO,phenotype,PHENOTYPE_15123
15124,15124,15124,15124,15124,15124,15124,15124,8890,Severe short-limb dwarfism,HPO,phenotype,PHENOTYPE_15124
15125,15125,15125,15125,15125,15125,15125,15125,10355,Duplication of the phalanges of the 2nd toe,HPO,phenotype,PHENOTYPE_15125
15126,15126,15126,15126,15126,15126,15126,15126,4000070,Fixated interests,HPO,phenotype,PHENOTYPE_15126
15127,15127,15127,15127,15127,15127,15127,15127,4000016,Anti-periplakin antibody positivity,HPO,phenotype,PHENOTYPE_15127
15128,15128,15128,15128,15128,15128,15128,15128,6762,Renal pelvic carcinoma,HPO,phenotype,PHENOTYPE_15128
15129,15129,15129,15129,15129,15129,15129,15129,3848,Cupped metaphyses of the upper limbs,HPO,phenotype,PHENOTYPE_15129
15130,15130,15130,15130,15130,15130,15130,15130,25767,Abnormal positive emotional state,HPO,phenotype,PHENOTYPE_15130
15131,15131,15131,15131,15131,15131,15131,15131,30557,Best corrected visual acuity 0.4 LogMAR,HPO,phenotype,PHENOTYPE_15131
15132,15132,15132,15132,15132,15132,15132,15132,3175,Hypoplastic ischia,HPO,phenotype,PHENOTYPE_15132
15133,15133,15133,15133,15133,15133,15133,15133,9343,Small epiphysis of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_15133
15134,15134,15134,15134,15134,15134,15134,15134,30295,Metaphyseal chondromatosis of femur,HPO,phenotype,PHENOTYPE_15134
15135,15135,15135,15135,15135,15135,15135,15135,3000058,Abnormality of inferior rectus extraocular muscle,HPO,phenotype,PHENOTYPE_15135
15136,15136,15136,15136,15136,15136,15136,15136,6866,Midline central nervous system lipomas,HPO,phenotype,PHENOTYPE_15136
15137,15137,15137,15137,15137,15137,15137,15137,782,Abnormal scapula morphology,HPO,phenotype,PHENOTYPE_15137
15138,15138,15138,15138,15138,15138,15138,15138,31210,Abnormal circulating hyaluronic acid concentration,HPO,phenotype,PHENOTYPE_15138
15139,15139,15139,15139,15139,15139,15139,15139,11624,Apical muscular ventricular septal defect,HPO,phenotype,PHENOTYPE_15139
15140,15140,15140,15140,15140,15140,15140,15140,31484,Cold-induced hemolysis,HPO,phenotype,PHENOTYPE_15140
15141,15141,15141,15141,15141,15141,15141,15141,10548,Percussion myotonia,HPO,phenotype,PHENOTYPE_15141
15142,15142,15142,15142,15142,15142,15142,15142,11875,Abnormal platelet morphology,HPO,phenotype,PHENOTYPE_15142
15143,15143,15143,15143,15143,15143,15143,15143,3202,Skeletal muscle atrophy,HPO,phenotype,PHENOTYPE_15143
15144,15144,15144,15144,15144,15144,15144,15144,1799,Short nail,HPO,phenotype,PHENOTYPE_15144
15145,15145,15145,15145,15145,15145,15145,15145,9951,Partial duplication of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_15145
15146,15146,15146,15146,15146,15146,15146,15146,12363,Decreased sialylation of O-linked protein glycosylation,HPO,phenotype,PHENOTYPE_15146
15147,15147,15147,15147,15147,15147,15147,15147,12490,Panniculitis,HPO,phenotype,PHENOTYPE_15147
15148,15148,15148,15148,15148,15148,15148,15148,34252,Absent corneal reflex,HPO,phenotype,PHENOTYPE_15148
15149,15149,15149,15149,15149,15149,15149,15149,11587,Abnormal branching pattern of the aortic arch,HPO,phenotype,PHENOTYPE_15149
15150,15150,15150,15150,15150,15150,15150,15150,32389,Periventricular laminar heterotopia,HPO,phenotype,PHENOTYPE_15150
15151,15151,15151,15151,15151,15151,15151,15151,5200039,Excessively loud speech,HPO,phenotype,PHENOTYPE_15151
15152,15152,15152,15152,15152,15152,15152,15152,8771,Aplasia/Hypoplasia of the ear,HPO,phenotype,PHENOTYPE_15152
15153,15153,15153,15153,15153,15153,15153,15153,31292,Cutaneous abscess,HPO,phenotype,PHENOTYPE_15153
15154,15154,15154,15154,15154,15154,15154,15154,3872,Humeral exostoses,HPO,phenotype,PHENOTYPE_15154
15155,15155,15155,15155,15155,15155,15155,15155,430116,Primary peritoneal serous papillary adenocarcinoma,HPO,phenotype,PHENOTYPE_15155
15156,15156,15156,15156,15156,15156,15156,15156,10619,Fibroadenoma of the breast,HPO,phenotype,PHENOTYPE_15156
15157,15157,15157,15157,15157,15157,15157,15157,33274,Glomerular endotheliosis,HPO,phenotype,PHENOTYPE_15157
15158,15158,15158,15158,15158,15158,15158,15158,34973,Aplasia of the pyramids of the medulla oblongata,HPO,phenotype,PHENOTYPE_15158
15159,15159,15159,15159,15159,15159,15159,15159,5885,Absent ossification of cervical vertebral bodies,HPO,phenotype,PHENOTYPE_15159
15160,15160,15160,15160,15160,15160,15160,15160,3990,Pointed ulna,HPO,phenotype,PHENOTYPE_15160
15161,15161,15161,15161,15161,15161,15161,15161,4344,Abnormality of cerebrosidase metabolism,HPO,phenotype,PHENOTYPE_15161
15162,15162,15162,15162,15162,15162,15162,15162,6000799,Positive Quantiferon tuberculosis test,HPO,phenotype,PHENOTYPE_15162
15163,15163,15163,15163,15163,15163,15163,15163,32904,Focal verbal automatism seizure,HPO,phenotype,PHENOTYPE_15163
15164,15164,15164,15164,15164,15164,15164,15164,25331,Upgaze palsy,HPO,phenotype,PHENOTYPE_15164
15165,15165,15165,15165,15165,15165,15165,15165,10663,Abnormal thalamus morphology,HPO,phenotype,PHENOTYPE_15165
15166,15166,15166,15166,15166,15166,15166,15166,34095,Anti-endothelin-1 type A receptor antibody positivity,HPO,phenotype,PHENOTYPE_15166
15167,15167,15167,15167,15167,15167,15167,15167,100619,Sertoli cell neoplasm,HPO,phenotype,PHENOTYPE_15167
15168,15168,15168,15168,15168,15168,15168,15168,8163,Decreased circulating cortisol level,HPO,phenotype,PHENOTYPE_15168
15169,15169,15169,15169,15169,15169,15169,15169,3000015,Abnormality of risorius muscle,HPO,phenotype,PHENOTYPE_15169
15170,15170,15170,15170,15170,15170,15170,15170,33202,Brachioradialis hyporeflexia,HPO,phenotype,PHENOTYPE_15170
15171,15171,15171,15171,15171,15171,15171,15171,11418,Abnormal insertion of umbilical cord,HPO,phenotype,PHENOTYPE_15171
15172,15172,15172,15172,15172,15172,15172,15172,5562,Multiple renal cysts,HPO,phenotype,PHENOTYPE_15172
15173,15173,15173,15173,15173,15173,15173,15173,6205,Irregular phalanges,HPO,phenotype,PHENOTYPE_15173
15174,15174,15174,15174,15174,15174,15174,15174,5944,Bilateral lung agenesis,HPO,phenotype,PHENOTYPE_15174
15175,15175,15175,15175,15175,15175,15175,15175,6000404,Reduced circulating insulin-like growth factor 2 concentration,HPO,phenotype,PHENOTYPE_15175
15176,15176,15176,15176,15176,15176,15176,15176,6001191,Forward displacement of posterior cervical dura mater on neck flexion,HPO,phenotype,PHENOTYPE_15176
15177,15177,15177,15177,15177,15177,15177,15177,10203,Aplasia/hypoplasia of proximal toe phalanx,HPO,phenotype,PHENOTYPE_15177
15178,15178,15178,15178,15178,15178,15178,15178,4000122,History of exclusive breast feeding,HPO,phenotype,PHENOTYPE_15178
15179,15179,15179,15179,15179,15179,15179,15179,430101,CD19 expression,HPO,phenotype,PHENOTYPE_15179
15180,15180,15180,15180,15180,15180,15180,15180,8440,C1-C2 vertebral abnormality,HPO,phenotype,PHENOTYPE_15180
15181,15181,15181,15181,15181,15181,15181,15181,9403,Triangular epiphyses of the 4th finger,HPO,phenotype,PHENOTYPE_15181
15182,15182,15182,15182,15182,15182,15182,15182,25475,Erythematous macule,HPO,phenotype,PHENOTYPE_15182
15183,15183,15183,15183,15183,15183,15183,15183,25686,Abnormal amyloid beta 40 peptide CSF concentration,HPO,phenotype,PHENOTYPE_15183
15184,15184,15184,15184,15184,15184,15184,15184,8486,Lumbar interpedicular narrowing,HPO,phenotype,PHENOTYPE_15184
15185,15185,15185,15185,15185,15185,15185,15185,2131,Episodic ataxia,HPO,phenotype,PHENOTYPE_15185
15186,15186,15186,15186,15186,15186,15186,15186,9752,Cleft in skull base,HPO,phenotype,PHENOTYPE_15186
15187,15187,15187,15187,15187,15187,15187,15187,32499,Giant neutrophil granules,HPO,phenotype,PHENOTYPE_15187
15188,15188,15188,15188,15188,15188,15188,15188,6000971,Elevated tissue alpha-N-acetylglucosaminidase activity,HPO,phenotype,PHENOTYPE_15188
15189,15189,15189,15189,15189,15189,15189,15189,1677,Coronary artery atherosclerosis,HPO,phenotype,PHENOTYPE_15189
15190,15190,15190,15190,15190,15190,15190,15190,34980,Synkinesis,HPO,phenotype,PHENOTYPE_15190
15191,15191,15191,15191,15191,15191,15191,15191,2317,Unsteady gait,HPO,phenotype,PHENOTYPE_15191
15192,15192,15192,15192,15192,15192,15192,15192,1001,Abnormality of subcutaneous fat tissue,HPO,phenotype,PHENOTYPE_15192
15193,15193,15193,15193,15193,15193,15193,15193,10340,Polydactyly affecting the 4th toe,HPO,phenotype,PHENOTYPE_15193
15194,15194,15194,15194,15194,15194,15194,15194,25596,Abnormal inferior oblique muscle physiology,HPO,phenotype,PHENOTYPE_15194
15195,15195,15195,15195,15195,15195,15195,15195,1402,Hepatocellular carcinoma,HPO,phenotype,PHENOTYPE_15195
15196,15196,15196,15196,15196,15196,15196,15196,33815,Bronchocentric,HPO,phenotype,PHENOTYPE_15196
15197,15197,15197,15197,15197,15197,15197,15197,6000427,Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_15197
15198,15198,15198,15198,15198,15198,15198,15198,10363,Osteolytic defects of the phalanges of the 3rd toe,HPO,phenotype,PHENOTYPE_15198
15199,15199,15199,15199,15199,15199,15199,15199,3418,Back pain,HPO,phenotype,PHENOTYPE_15199
15200,15200,15200,15200,15200,15200,15200,15200,10256,Triangular epiphyses of the distal phalanges of the hand,HPO,phenotype,PHENOTYPE_15200
15201,15201,15201,15201,15201,15201,15201,15201,100568,Neoplasm of the endocrine system,HPO,phenotype,PHENOTYPE_15201
15202,15202,15202,15202,15202,15202,15202,15202,33390,Bronchial artery dilatation,HPO,phenotype,PHENOTYPE_15202
15203,15203,15203,15203,15203,15203,15203,15203,218,High palate,HPO,phenotype,PHENOTYPE_15203
15204,15204,15204,15204,15204,15204,15204,15204,34378,Urethrovesical occlusion,HPO,phenotype,PHENOTYPE_15204
15205,15205,15205,15205,15205,15205,15205,15205,40123,Impairment of the reflex of the tensor tympani muscle,HPO,phenotype,PHENOTYPE_15205
15206,15206,15206,15206,15206,15206,15206,15206,9185,Contracture of the proximal interphalangeal joint of the 5th finger,HPO,phenotype,PHENOTYPE_15206
15207,15207,15207,15207,15207,15207,15207,15207,6000496,Anti-factor X antibody positivity,HPO,phenotype,PHENOTYPE_15207
15208,15208,15208,15208,15208,15208,15208,15208,32160,Cryptococcal meningitis,HPO,phenotype,PHENOTYPE_15208
15209,15209,15209,15209,15209,15209,15209,15209,6000658,Medium vessel vasculitis,HPO,phenotype,PHENOTYPE_15209
15210,15210,15210,15210,15210,15210,15210,15210,31223,Focal pancreatic islet hyperplasia,HPO,phenotype,PHENOTYPE_15210
15211,15211,15211,15211,15211,15211,15211,15211,3163,Elevated urinary delta-aminolevulinic acid,HPO,phenotype,PHENOTYPE_15211
15212,15212,15212,15212,15212,15212,15212,15212,12133,Erythroid hypoplasia,HPO,phenotype,PHENOTYPE_15212
15213,15213,15213,15213,15213,15213,15213,15213,8330,Reduced von Willebrand factor activity,HPO,phenotype,PHENOTYPE_15213
15214,15214,15214,15214,15214,15214,15214,15214,25103,Umbilicated nodule,HPO,phenotype,PHENOTYPE_15214
15215,15215,15215,15215,15215,15215,15215,15215,30756,Erythrodontia,HPO,phenotype,PHENOTYPE_15215
15216,15216,15216,15216,15216,15216,15216,15216,34929,Reduced hepatic cystathionine gamma-lyase activity,HPO,phenotype,PHENOTYPE_15216
15217,15217,15217,15217,15217,15217,15217,15217,5144,Ventricular septal hypertrophy,HPO,phenotype,PHENOTYPE_15217
15218,15218,15218,15218,15218,15218,15218,15218,4743,Chronic tubulointerstitial nephritis,HPO,phenotype,PHENOTYPE_15218
15219,15219,15219,15219,15219,15219,15219,15219,2445,Tetraplegia,HPO,phenotype,PHENOTYPE_15219
15220,15220,15220,15220,15220,15220,15220,15220,30710,Lipomeningocele,HPO,phenotype,PHENOTYPE_15220
15221,15221,15221,15221,15221,15221,15221,15221,34682,Extension contracture of finger,HPO,phenotype,PHENOTYPE_15221
15222,15222,15222,15222,15222,15222,15222,15222,32784,Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole,HPO,phenotype,PHENOTYPE_15222
15223,15223,15223,15223,15223,15223,15223,15223,3890,Prominent deltoid tuberosities,HPO,phenotype,PHENOTYPE_15223
15224,15224,15224,15224,15224,15224,15224,15224,9991,Complete duplication of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_15224
15225,15225,15225,15225,15225,15225,15225,15225,10174,Broad phalanx of the toes,HPO,phenotype,PHENOTYPE_15225
15226,15226,15226,15226,15226,15226,15226,15226,5200015,Muted facial expression,HPO,phenotype,PHENOTYPE_15226
15227,15227,15227,15227,15227,15227,15227,15227,11365,Patchy hypopigmentation of hair,HPO,phenotype,PHENOTYPE_15227
15228,15228,15228,15228,15228,15228,15228,15228,11698,Supraventricular tachycardia with a manifest accessory pathway on the septum,HPO,phenotype,PHENOTYPE_15228
15229,15229,15229,15229,15229,15229,15229,15229,711,Restlessness,HPO,phenotype,PHENOTYPE_15229
15230,15230,15230,15230,15230,15230,15230,15230,10282,Thin lower lip vermilion,HPO,phenotype,PHENOTYPE_15230
15231,15231,15231,15231,15231,15231,15231,15231,33903,Arcuate artery endoarterial hypercellularity,HPO,phenotype,PHENOTYPE_15231
15232,15232,15232,15232,15232,15232,15232,15232,33079,Aplasia/Hypoplasia of the thyroid gland,HPO,phenotype,PHENOTYPE_15232
15233,15233,15233,15233,15233,15233,15233,15233,548,Cone/cone-rod dystrophy,HPO,phenotype,PHENOTYPE_15233
15234,15234,15234,15234,15234,15234,15234,15234,9007,Biceps hypoplasia,HPO,phenotype,PHENOTYPE_15234
15235,15235,15235,15235,15235,15235,15235,15235,10102,Aplasia of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_15235
15236,15236,15236,15236,15236,15236,15236,15236,31729,Moderate hypermetropia,HPO,phenotype,PHENOTYPE_15236
15237,15237,15237,15237,15237,15237,15237,15237,12026,Hyperornithinemia,HPO,phenotype,PHENOTYPE_15237
15238,15238,15238,15238,15238,15238,15238,15238,9830,Peripheral neuropathy,HPO,phenotype,PHENOTYPE_15238
15239,15239,15239,15239,15239,15239,15239,15239,698,Conical tooth,HPO,phenotype,PHENOTYPE_15239
15240,15240,15240,15240,15240,15240,15240,15240,6000927,Positive CSF Borrelia burgdorferi antibody positivity,HPO,phenotype,PHENOTYPE_15240
15241,15241,15241,15241,15241,15241,15241,15241,33398,Pleural plaque,HPO,phenotype,PHENOTYPE_15241
15242,15242,15242,15242,15242,15242,15242,15242,31882,Agyria,HPO,phenotype,PHENOTYPE_15242
15243,15243,15243,15243,15243,15243,15243,15243,31518,Absent posterior alpha rhythm,HPO,phenotype,PHENOTYPE_15243
15244,15244,15244,15244,15244,15244,15244,15244,30688,Increased glucagon level,HPO,phenotype,PHENOTYPE_15244
15245,15245,15245,15245,15245,15245,15245,15245,7795,Anterior cortical cataract,HPO,phenotype,PHENOTYPE_15245
15246,15246,15246,15246,15246,15246,15246,15246,10075,Duplication of the 1st metatarsal,HPO,phenotype,PHENOTYPE_15246
15247,15247,15247,15247,15247,15247,15247,15247,5929,Synostosis involving the tibia,HPO,phenotype,PHENOTYPE_15247
15248,15248,15248,15248,15248,15248,15248,15248,33507,Decreased esterified to free carnitine ratio,HPO,phenotype,PHENOTYPE_15248
15249,15249,15249,15249,15249,15249,15249,15249,6000401,Reduced circulating protein Z concentration,HPO,phenotype,PHENOTYPE_15249
15250,15250,15250,15250,15250,15250,15250,15250,3000004,Abnormal frontalis muscle physiology,HPO,phenotype,PHENOTYPE_15250
15251,15251,15251,15251,15251,15251,15251,15251,32387,Reduced circulating transferrin concentration,HPO,phenotype,PHENOTYPE_15251
15252,15252,15252,15252,15252,15252,15252,15252,12125,Prostate cancer,HPO,phenotype,PHENOTYPE_15252
15253,15253,15253,15253,15253,15253,15253,15253,30545,Unaided visual acuity 1.0 LogMAR,HPO,phenotype,PHENOTYPE_15253
15254,15254,15254,15254,15254,15254,15254,15254,33218,Glomerular hyalinosis at the tubular pole,HPO,phenotype,PHENOTYPE_15254
15255,15255,15255,15255,15255,15255,15255,15255,6000334,Reduced hepatic ornithine transcarbamylase activity,HPO,phenotype,PHENOTYPE_15255
15256,15256,15256,15256,15256,15256,15256,15256,9121,Abnormal axial skeleton morphology,HPO,phenotype,PHENOTYPE_15256
15257,15257,15257,15257,15257,15257,15257,15257,31363,Palpable purpura,HPO,phenotype,PHENOTYPE_15257
15258,15258,15258,15258,15258,15258,15258,15258,3324,Generalized muscle weakness,HPO,phenotype,PHENOTYPE_15258
15259,15259,15259,15259,15259,15259,15259,15259,9129,Upper limb amyotrophy,HPO,phenotype,PHENOTYPE_15259
15260,15260,15260,15260,15260,15260,15260,15260,100052,Small epiphyses of the 2nd toe,HPO,phenotype,PHENOTYPE_15260
15261,15261,15261,15261,15261,15261,15261,15261,4428,Elfin facies,HPO,phenotype,PHENOTYPE_15261
15262,15262,15262,15262,15262,15262,15262,15262,3338,Focal necrosis of right ventricular muscle cells,HPO,phenotype,PHENOTYPE_15262
15263,15263,15263,15263,15263,15263,15263,15263,8945,Loss of ability to walk in early childhood,HPO,phenotype,PHENOTYPE_15263
15264,15264,15264,15264,15264,15264,15264,15264,606,Abnormality of the periorbital region,HPO,phenotype,PHENOTYPE_15264
15265,15265,15265,15265,15265,15265,15265,15265,4052,Delayed ossification of the hand bones,HPO,phenotype,PHENOTYPE_15265
15266,15266,15266,15266,15266,15266,15266,15266,10838,High nonceruloplasmin-bound serum copper,HPO,phenotype,PHENOTYPE_15266
15267,15267,15267,15267,15267,15267,15267,15267,410207,Positive methadone plasma/serum test,HPO,phenotype,PHENOTYPE_15267
15268,15268,15268,15268,15268,15268,15268,15268,430000,Abnormal frontal bone morphology,HPO,phenotype,PHENOTYPE_15268
15269,15269,15269,15269,15269,15269,15269,15269,12144,Abnormal monocyte morphology,HPO,phenotype,PHENOTYPE_15269
15270,15270,15270,15270,15270,15270,15270,15270,6934,Congenital nystagmus,HPO,phenotype,PHENOTYPE_15270
15271,15271,15271,15271,15271,15271,15271,15271,25058,Hypothalamic atrophy,HPO,phenotype,PHENOTYPE_15271
15272,15272,15272,15272,15272,15272,15272,15272,12878,Retarded ejaculation,HPO,phenotype,PHENOTYPE_15272
15273,15273,15273,15273,15273,15273,15273,15273,9193,Metacarpal pseudoepiphysis,HPO,phenotype,PHENOTYPE_15273
15274,15274,15274,15274,15274,15274,15274,15274,3000037,Abnormal neck blood vessel morphology,HPO,phenotype,PHENOTYPE_15274
15275,15275,15275,15275,15275,15275,15275,15275,34170,Abnormal circulating interleukin 23 concentration,HPO,phenotype,PHENOTYPE_15275
15276,15276,15276,15276,15276,15276,15276,15276,32051,Focal cortical dysplasia type II,HPO,phenotype,PHENOTYPE_15276
15277,15277,15277,15277,15277,15277,15277,15277,30263,Torsion of the penis,HPO,phenotype,PHENOTYPE_15277
15278,15278,15278,15278,15278,15278,15278,15278,20006,Ciliary body coloboma,HPO,phenotype,PHENOTYPE_15278
15279,15279,15279,15279,15279,15279,15279,15279,31572,Tessier number 1 facial cleft,HPO,phenotype,PHENOTYPE_15279
15280,15280,15280,15280,15280,15280,15280,15280,30758,Periapical tooth abscess,HPO,phenotype,PHENOTYPE_15280
15281,15281,15281,15281,15281,15281,15281,15281,9741,Nephrosclerosis,HPO,phenotype,PHENOTYPE_15281
15282,15282,15282,15282,15282,15282,15282,15282,11723,Congenital malformation of the right heart,HPO,phenotype,PHENOTYPE_15282
15283,15283,15283,15283,15283,15283,15283,15283,30326,Abnormal macrophage count,HPO,phenotype,PHENOTYPE_15283
15284,15284,15284,15284,15284,15284,15284,15284,30050,Narcolepsy,HPO,phenotype,PHENOTYPE_15284
15285,15285,15285,15285,15285,15285,15285,15285,31582,Tessier number 10 facial cleft,HPO,phenotype,PHENOTYPE_15285
15286,15286,15286,15286,15286,15286,15286,15286,33764,Death in middle age,HPO,phenotype,PHENOTYPE_15286
15287,15287,15287,15287,15287,15287,15287,15287,30149,Cardiogenic shock,HPO,phenotype,PHENOTYPE_15287
15288,15288,15288,15288,15288,15288,15288,15288,2352,Leukoencephalopathy,HPO,phenotype,PHENOTYPE_15288
15289,15289,15289,15289,15289,15289,15289,15289,100072,Ivory epiphyses of the 4th toe,HPO,phenotype,PHENOTYPE_15289
15290,15290,15290,15290,15290,15290,15290,15290,25231,Abnormal synovial bursa morphology,HPO,phenotype,PHENOTYPE_15290
15291,15291,15291,15291,15291,15291,15291,15291,10349,Bullet-shaped 2nd toe phalanx,HPO,phenotype,PHENOTYPE_15291
15292,15292,15292,15292,15292,15292,15292,15292,32292,Monoclonal elevation of IgG light chain,HPO,phenotype,PHENOTYPE_15292
15293,15293,15293,15293,15293,15293,15293,15293,10241,Short proximal phalanx of finger,HPO,phenotype,PHENOTYPE_15293
15294,15294,15294,15294,15294,15294,15294,15294,4278,Synostosis involving bones of the hand,HPO,phenotype,PHENOTYPE_15294
15295,15295,15295,15295,15295,15295,15295,15295,30489,Abnormal paracentral response of multifocal electroretinogram,HPO,phenotype,PHENOTYPE_15295
15296,15296,15296,15296,15296,15296,15296,15296,32473,Decreased urine urobilinogen,HPO,phenotype,PHENOTYPE_15296
15297,15297,15297,15297,15297,15297,15297,15297,2980,Femoral bowing,HPO,phenotype,PHENOTYPE_15297
15298,15298,15298,15298,15298,15298,15298,15298,100581,Dilatation of renal calices,HPO,phenotype,PHENOTYPE_15298
15299,15299,15299,15299,15299,15299,15299,15299,6000113,Elevated urinary succinyladenosine level,HPO,phenotype,PHENOTYPE_15299
15300,15300,15300,15300,15300,15300,15300,15300,11060,Dentinogenesis imperfecta limited to primary teeth,HPO,phenotype,PHENOTYPE_15300
15301,15301,15301,15301,15301,15301,15301,15301,2167,Abnormal speech pattern,HPO,phenotype,PHENOTYPE_15301
15302,15302,15302,15302,15302,15302,15302,15302,1488,Bilateral ptosis,HPO,phenotype,PHENOTYPE_15302
15303,15303,15303,15303,15303,15303,15303,15303,34194,Suprabasal cleavage,HPO,phenotype,PHENOTYPE_15303
15304,15304,15304,15304,15304,15304,15304,15304,567,Chorioretinal coloboma,HPO,phenotype,PHENOTYPE_15304
15305,15305,15305,15305,15305,15305,15305,15305,6772,Renal angiomyolipoma,HPO,phenotype,PHENOTYPE_15305
15306,15306,15306,15306,15306,15306,15306,15306,2659,Increased susceptibility to fractures,HPO,phenotype,PHENOTYPE_15306
15307,15307,15307,15307,15307,15307,15307,15307,100915,Sclerosis of distal finger phalanx,HPO,phenotype,PHENOTYPE_15307
15308,15308,15308,15308,15308,15308,15308,15308,10489,Absent palmar crease,HPO,phenotype,PHENOTYPE_15308
15309,15309,15309,15309,15309,15309,15309,15309,32882,Focal impaired awareness cognitive seizure with deja vu/jamais vu,HPO,phenotype,PHENOTYPE_15309
15310,15310,15310,15310,15310,15310,15310,15310,6000913,Swelling of inguinal region,HPO,phenotype,PHENOTYPE_15310
15311,15311,15311,15311,15311,15311,15311,15311,34728,Abnormal circulating alpha-L-fucosidase activity,HPO,phenotype,PHENOTYPE_15311
15312,15312,15312,15312,15312,15312,15312,15312,83,Renal insufficiency,HPO,phenotype,PHENOTYPE_15312
15313,15313,15313,15313,15313,15313,15313,15313,1848,Calcaneovalgus deformity,HPO,phenotype,PHENOTYPE_15313
15314,15314,15314,15314,15314,15314,15314,15314,30461,Abnormal timing of flash visual evoked potentials,HPO,phenotype,PHENOTYPE_15314
15315,15315,15315,15315,15315,15315,15315,15315,12220,Non-caseating epithelioid cell granulomatosis,HPO,phenotype,PHENOTYPE_15315
15316,15316,15316,15316,15316,15316,15316,15316,7489,Diffuse telangiectasia,HPO,phenotype,PHENOTYPE_15316
15317,15317,15317,15317,15317,15317,15317,15317,10628,Facial palsy,HPO,phenotype,PHENOTYPE_15317
15318,15318,15318,15318,15318,15318,15318,15318,294,Low anterior hairline,HPO,phenotype,PHENOTYPE_15318
15319,15319,15319,15319,15319,15319,15319,15319,100186,Ivory epiphysis of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_15319
15320,15320,15320,15320,15320,15320,15320,15320,410008,Abnormality of the peripheral nervous system,HPO,phenotype,PHENOTYPE_15320
15321,15321,15321,15321,15321,15321,15321,15321,623,Supranuclear ophthalmoplegia,HPO,phenotype,PHENOTYPE_15321
15322,15322,15322,15322,15322,15322,15322,15322,41173,Fractured metacarpophalangeal joint,HPO,phenotype,PHENOTYPE_15322
15323,15323,15323,15323,15323,15323,15323,15323,100196,Irregular epiphysis of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_15323
15324,15324,15324,15324,15324,15324,15324,15324,30637,Congenital stationary cone dysfunction,HPO,phenotype,PHENOTYPE_15324
15325,15325,15325,15325,15325,15325,15325,15325,430094,CD5 expression,HPO,phenotype,PHENOTYPE_15325
15326,15326,15326,15326,15326,15326,15326,15326,8998,Pectoralis hypoplasia,HPO,phenotype,PHENOTYPE_15326
15327,15327,15327,15327,15327,15327,15327,15327,4819,Normocytic hypoplastic anemia,HPO,phenotype,PHENOTYPE_15327
15328,15328,15328,15328,15328,15328,15328,15328,410326,Feather allergy,HPO,phenotype,PHENOTYPE_15328
15329,15329,15329,15329,15329,15329,15329,15329,7665,Curly eyelashes,HPO,phenotype,PHENOTYPE_15329
15330,15330,15330,15330,15330,15330,15330,15330,32567,Lipiduria,HPO,phenotype,PHENOTYPE_15330
15331,15331,15331,15331,15331,15331,15331,15331,33916,Medial/intimal arcuate venosclerosis,HPO,phenotype,PHENOTYPE_15331
15332,15332,15332,15332,15332,15332,15332,15332,1547,Abnormal rib cage morphology,HPO,phenotype,PHENOTYPE_15332
15333,15333,15333,15333,15333,15333,15333,15333,32887,Generalized atonic seizure,HPO,phenotype,PHENOTYPE_15333
15334,15334,15334,15334,15334,15334,15334,15334,6000881,Anti-DCC netrin 1 receptor antibody positivity,HPO,phenotype,PHENOTYPE_15334
15335,15335,15335,15335,15335,15335,15335,15335,4000123,Nutrition history,HPO,phenotype,PHENOTYPE_15335
15336,15336,15336,15336,15336,15336,15336,15336,3870,Crumpled humerus,HPO,phenotype,PHENOTYPE_15336
15337,15337,15337,15337,15337,15337,15337,15337,100474,Symphalangism affecting the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_15337
15338,15338,15338,15338,15338,15338,15338,15338,1920,Renal artery stenosis,HPO,phenotype,PHENOTYPE_15338
15339,15339,15339,15339,15339,15339,15339,15339,6261,Abnormal phalangeal joint morphology of the hand,HPO,phenotype,PHENOTYPE_15339
15340,15340,15340,15340,15340,15340,15340,15340,34640,Skin infectious agent,HPO,phenotype,PHENOTYPE_15340
15341,15341,15341,15341,15341,15341,15341,15341,6000910,Diminished tissue alpha-L-iduronidase activity,HPO,phenotype,PHENOTYPE_15341
15342,15342,15342,15342,15342,15342,15342,15342,6344,Abnormal primary molar morphology,HPO,phenotype,PHENOTYPE_15342
15343,15343,15343,15343,15343,15343,15343,15343,33640,Acetabular erosions,HPO,phenotype,PHENOTYPE_15343
15344,15344,15344,15344,15344,15344,15344,15344,31310,Basilar artery calcification,HPO,phenotype,PHENOTYPE_15344
15345,15345,15345,15345,15345,15345,15345,15345,20038,Vertebrobasilar dolichoectasia,HPO,phenotype,PHENOTYPE_15345
15346,15346,15346,15346,15346,15346,15346,15346,6000407,Elevated circulating fibroblast growth factor 23 concentration,HPO,phenotype,PHENOTYPE_15346
15347,15347,15347,15347,15347,15347,15347,15347,6000360,Reduced tissue alpha-N-acetylglucosaminidase activity,HPO,phenotype,PHENOTYPE_15347
15348,15348,15348,15348,15348,15348,15348,15348,7708,Absent inner eyelashes,HPO,phenotype,PHENOTYPE_15348
15349,15349,15349,15349,15349,15349,15349,15349,100313,Cerebral granulomatosis,HPO,phenotype,PHENOTYPE_15349
15350,15350,15350,15350,15350,15350,15350,15350,100857,Flat sella turcica,HPO,phenotype,PHENOTYPE_15350
15351,15351,15351,15351,15351,15351,15351,15351,33297,Multinucleated visceral epithelial cells,HPO,phenotype,PHENOTYPE_15351
15352,15352,15352,15352,15352,15352,15352,15352,6000638,Reduced hepatic glyoxylate reductase activity,HPO,phenotype,PHENOTYPE_15352
15353,15353,15353,15353,15353,15353,15353,15353,11911,Abnormal metacarpophalangeal joint morphology,HPO,phenotype,PHENOTYPE_15353
15354,15354,15354,15354,15354,15354,15354,15354,6944,Abolished vibration sense,HPO,phenotype,PHENOTYPE_15354
15355,15355,15355,15355,15355,15355,15355,15355,1234,Hitchhiker thumb,HPO,phenotype,PHENOTYPE_15355
15356,15356,15356,15356,15356,15356,15356,15356,33905,Arcuate artery intima/media arteriosclerosis,HPO,phenotype,PHENOTYPE_15356
15357,15357,15357,15357,15357,15357,15357,15357,4000127,Exacerbated by sodium channel blocking agent exposure,HPO,phenotype,PHENOTYPE_15357
15358,15358,15358,15358,15358,15358,15358,15358,25325,Sparse medial eyebrow,HPO,phenotype,PHENOTYPE_15358
15359,15359,15359,15359,15359,15359,15359,15359,31566,Abnormal pulmonary valve cusp morphology,HPO,phenotype,PHENOTYPE_15359
15360,15360,15360,15360,15360,15360,15360,15360,30826,Eyelid fasciculation,HPO,phenotype,PHENOTYPE_15360
15361,15361,15361,15361,15361,15361,15361,15361,32050,Focal cortical dysplasia type Ic,HPO,phenotype,PHENOTYPE_15361
15362,15362,15362,15362,15362,15362,15362,15362,34804,Corneal foreign body sensation,HPO,phenotype,PHENOTYPE_15362
15363,15363,15363,15363,15363,15363,15363,15363,10192,Triangular shaped distal phalanges of the toes,HPO,phenotype,PHENOTYPE_15363
15364,15364,15364,15364,15364,15364,15364,15364,3878,Periosteal new bone of humerus,HPO,phenotype,PHENOTYPE_15364
15365,15365,15365,15365,15365,15365,15365,15365,2275,Poor motor coordination,HPO,phenotype,PHENOTYPE_15365
15366,15366,15366,15366,15366,15366,15366,15366,11113,Abnormality of cytokine secretion,HPO,phenotype,PHENOTYPE_15366
15367,15367,15367,15367,15367,15367,15367,15367,12439,Abnormal biliary tract physiology,HPO,phenotype,PHENOTYPE_15367
15368,15368,15368,15368,15368,15368,15368,15368,6000676,Anti-von Willebrand factor antibody positivity,HPO,phenotype,PHENOTYPE_15368
15369,15369,15369,15369,15369,15369,15369,15369,12617,Erythrocyte cylindruria,HPO,phenotype,PHENOTYPE_15369
15370,15370,15370,15370,15370,15370,15370,15370,10699,Triangular nuclear cataract,HPO,phenotype,PHENOTYPE_15370
15371,15371,15371,15371,15371,15371,15371,15371,10793,Bifid nail,HPO,phenotype,PHENOTYPE_15371
15372,15372,15372,15372,15372,15372,15372,15372,5200024,Abnormal relationship,HPO,phenotype,PHENOTYPE_15372
15373,15373,15373,15373,15373,15373,15373,15373,10404,Aplasia/Hypoplasia of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_15373
15374,15374,15374,15374,15374,15374,15374,15374,12235,Drug-induced agranulocytosis,HPO,phenotype,PHENOTYPE_15374
15375,15375,15375,15375,15375,15375,15375,15375,33061,Increased factor IX activity,HPO,phenotype,PHENOTYPE_15375
15376,15376,15376,15376,15376,15376,15376,15376,6000354,Reduced aspartoacylase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_15376
15377,15377,15377,15377,15377,15377,15377,15377,6000899,Positive skin scabies test,HPO,phenotype,PHENOTYPE_15377
15378,15378,15378,15378,15378,15378,15378,15378,32661,Generalized convulsive status epilepticus,HPO,phenotype,PHENOTYPE_15378
15379,15379,15379,15379,15379,15379,15379,15379,31378,Abnormal lymphocyte proliferation,HPO,phenotype,PHENOTYPE_15379
15380,15380,15380,15380,15380,15380,15380,15380,31595,Abnormal P wave,HPO,phenotype,PHENOTYPE_15380
15381,15381,15381,15381,15381,15381,15381,15381,9280,Short 4th finger,HPO,phenotype,PHENOTYPE_15381
15382,15382,15382,15382,15382,15382,15382,15382,100144,Stippling of the epiphysis of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_15382
15383,15383,15383,15383,15383,15383,15383,15383,12727,Thoracic aortic aneurysm,HPO,phenotype,PHENOTYPE_15383
15384,15384,15384,15384,15384,15384,15384,15384,100787,Prostate neoplasm,HPO,phenotype,PHENOTYPE_15384
15385,15385,15385,15385,15385,15385,15385,15385,34001,Anti-Complement factor H antibody positivity,HPO,phenotype,PHENOTYPE_15385
15386,15386,15386,15386,15386,15386,15386,15386,9273,Deviation of the 4th finger,HPO,phenotype,PHENOTYPE_15386
15387,15387,15387,15387,15387,15387,15387,15387,25226,Triggered by stress,HPO,phenotype,PHENOTYPE_15387
15388,15388,15388,15388,15388,15388,15388,15388,31019,Pyknotic bone marrow neutrophils,HPO,phenotype,PHENOTYPE_15388
15389,15389,15389,15389,15389,15389,15389,15389,12720,Neoplasm of the nose,HPO,phenotype,PHENOTYPE_15389
15390,15390,15390,15390,15390,15390,15390,15390,32312,Decreased circulating globulin level,HPO,phenotype,PHENOTYPE_15390
15391,15391,15391,15391,15391,15391,15391,15391,34033,Peripheral cyanosis,HPO,phenotype,PHENOTYPE_15391
15392,15392,15392,15392,15392,15392,15392,15392,500189,Abnormal CSF leucine concentration,HPO,phenotype,PHENOTYPE_15392
15393,15393,15393,15393,15393,15393,15393,15393,34491,Increased circulating interleukin 5 concentration,HPO,phenotype,PHENOTYPE_15393
15394,15394,15394,15394,15394,15394,15394,15394,25290,Upper-body predominance,HPO,phenotype,PHENOTYPE_15394
15395,15395,15395,15395,15395,15395,15395,15395,478,Abnormality of the eye,HPO,phenotype,PHENOTYPE_15395
15396,15396,15396,15396,15396,15396,15396,15396,2024,Malabsorption,HPO,phenotype,PHENOTYPE_15396
15397,15397,15397,15397,15397,15397,15397,15397,10338,Deviation of the 4th toe,HPO,phenotype,PHENOTYPE_15397
15398,15398,15398,15398,15398,15398,15398,15398,31548,Follicular infundibulum tumor,HPO,phenotype,PHENOTYPE_15398
15399,15399,15399,15399,15399,15399,15399,15399,1257,Spasticity,HPO,phenotype,PHENOTYPE_15399
15400,15400,15400,15400,15400,15400,15400,15400,34051,Hypoplastic anterior limbs of the internal capsule,HPO,phenotype,PHENOTYPE_15400
15401,15401,15401,15401,15401,15401,15401,15401,9117,Aplasia/Hypoplasia of the maxilla,HPO,phenotype,PHENOTYPE_15401
15402,15402,15402,15402,15402,15402,15402,15402,92,Renal tubular atrophy,HPO,phenotype,PHENOTYPE_15402
15403,15403,15403,15403,15403,15403,15403,15403,30449,Therapeutic abortion,HPO,phenotype,PHENOTYPE_15403
15404,15404,15404,15404,15404,15404,15404,15404,33055,Impaired ability to plan,HPO,phenotype,PHENOTYPE_15404
15405,15405,15405,15405,15405,15405,15405,15405,6000037,Reduced circulating aromatic L-amino acid decarboxylase activity,HPO,phenotype,PHENOTYPE_15405
15406,15406,15406,15406,15406,15406,15406,15406,30454,Abnormal electrooculogram,HPO,phenotype,PHENOTYPE_15406
15407,15407,15407,15407,15407,15407,15407,15407,25082,Abnormal cutaneous elastic fiber morphology,HPO,phenotype,PHENOTYPE_15407
15408,15408,15408,15408,15408,15408,15408,15408,9700,Finger symphalangism,HPO,phenotype,PHENOTYPE_15408
15409,15409,15409,15409,15409,15409,15409,15409,12209,Juvenile myelomonocytic leukemia,HPO,phenotype,PHENOTYPE_15409
15410,15410,15410,15410,15410,15410,15410,15410,25294,Dermatomal,HPO,phenotype,PHENOTYPE_15410
15411,15411,15411,15411,15411,15411,15411,15411,33982,Celiac artery dissection,HPO,phenotype,PHENOTYPE_15411
15412,15412,15412,15412,15412,15412,15412,15412,7006,Dorsal column degeneration,HPO,phenotype,PHENOTYPE_15412
15413,15413,15413,15413,15413,15413,15413,15413,4000047,Compression fracture,HPO,phenotype,PHENOTYPE_15413
15414,15414,15414,15414,15414,15414,15414,15414,6000560,Decreased circulating carboxypeptidase N activity,HPO,phenotype,PHENOTYPE_15414
15415,15415,15415,15415,15415,15415,15415,15415,11780,Thyroid hemiagenesis,HPO,phenotype,PHENOTYPE_15415
15416,15416,15416,15416,15416,15416,15416,15416,6563,Malformation of the hepatic ductal plate,HPO,phenotype,PHENOTYPE_15416
15417,15417,15417,15417,15417,15417,15417,15417,10019,Fragmentation of the epiphysis of the 1st metacarpal,HPO,phenotype,PHENOTYPE_15417
15418,15418,15418,15418,15418,15418,15418,15418,6001012,Erythema marginatum,HPO,phenotype,PHENOTYPE_15418
15419,15419,15419,15419,15419,15419,15419,15419,32447,Pulmonary bleb,HPO,phenotype,PHENOTYPE_15419
15420,15420,15420,15420,15420,15420,15420,15420,10924,Posterior cortical cataract,HPO,phenotype,PHENOTYPE_15420
15421,15421,15421,15421,15421,15421,15421,15421,5042,"Irregular, rachitic-like metaphyses",HPO,phenotype,PHENOTYPE_15421
15422,15422,15422,15422,15422,15422,15422,15422,33969,Interlobular vein intima/media necrosis,HPO,phenotype,PHENOTYPE_15422
15423,15423,15423,15423,15423,15423,15423,15423,100692,Increased corneal curvature,HPO,phenotype,PHENOTYPE_15423
15424,15424,15424,15424,15424,15424,15424,15424,100141,Ivory epiphysis of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_15424
15425,15425,15425,15425,15425,15425,15425,15425,6000335,Elevated urinary quinolinic acid level,HPO,phenotype,PHENOTYPE_15425
15426,15426,15426,15426,15426,15426,15426,15426,30539,Unaided visual acuity 0.4 LogMAR,HPO,phenotype,PHENOTYPE_15426
15427,15427,15427,15427,15427,15427,15427,15427,4289,Sclerotic foci in hand bones,HPO,phenotype,PHENOTYPE_15427
15428,15428,15428,15428,15428,15428,15428,15428,479,Abnormal retinal morphology,HPO,phenotype,PHENOTYPE_15428
15429,15429,15429,15429,15429,15429,15429,15429,6000581,Positive synonvial fluid infectious agent test,HPO,phenotype,PHENOTYPE_15429
15430,15430,15430,15430,15430,15430,15430,15430,3102,Increased carrying angle,HPO,phenotype,PHENOTYPE_15430
15431,15431,15431,15431,15431,15431,15431,15431,10033,Triangular shaped 1st metacarpal,HPO,phenotype,PHENOTYPE_15431
15432,15432,15432,15432,15432,15432,15432,15432,11717,Atrioventricular reentrant tachycardia,HPO,phenotype,PHENOTYPE_15432
15433,15433,15433,15433,15433,15433,15433,15433,31544,Elevated circulating palmitoleylcarnitine concentration,HPO,phenotype,PHENOTYPE_15433
15434,15434,15434,15434,15434,15434,15434,15434,6001068,Thickened tricuspid valve cusp,HPO,phenotype,PHENOTYPE_15434
15435,15435,15435,15435,15435,15435,15435,15435,30793,Jaw swelling,HPO,phenotype,PHENOTYPE_15435
15436,15436,15436,15436,15436,15436,15436,15436,2066,Gait ataxia,HPO,phenotype,PHENOTYPE_15436
15437,15437,15437,15437,15437,15437,15437,15437,34821,Bussaca nodules,HPO,phenotype,PHENOTYPE_15437
15438,15438,15438,15438,15438,15438,15438,15438,8278,Cerebellar cortical atrophy,HPO,phenotype,PHENOTYPE_15438
15439,15439,15439,15439,15439,15439,15439,15439,25657,Abnormal umbilical blood flow measurement,HPO,phenotype,PHENOTYPE_15439
15440,15440,15440,15440,15440,15440,15440,15440,11705,First degree atrioventricular block,HPO,phenotype,PHENOTYPE_15440
15441,15441,15441,15441,15441,15441,15441,15441,6742,Congenital neuroblastoma,HPO,phenotype,PHENOTYPE_15441
15442,15442,15442,15442,15442,15442,15442,15442,4586,Biconcave vertebral bodies,HPO,phenotype,PHENOTYPE_15442
15443,15443,15443,15443,15443,15443,15443,15443,6001097,Dorsal flexion contracture of the ankle,HPO,phenotype,PHENOTYPE_15443
15444,15444,15444,15444,15444,15444,15444,15444,410208,Positive plasma/serum cotinine test,HPO,phenotype,PHENOTYPE_15444
15445,15445,15445,15445,15445,15445,15445,15445,6000186,Anti-soluble liver antigen/liver pancreas antibody positivity,HPO,phenotype,PHENOTYPE_15445
15446,15446,15446,15446,15446,15446,15446,15446,34035,Pharyngeal exudate,HPO,phenotype,PHENOTYPE_15446
15447,15447,15447,15447,15447,15447,15447,15447,6001102,Inability to puff cheeks,HPO,phenotype,PHENOTYPE_15447
15448,15448,15448,15448,15448,15448,15448,15448,35016,Elevated circulating C4 acylcarnitine concentration,HPO,phenotype,PHENOTYPE_15448
15449,15449,15449,15449,15449,15449,15449,15449,100312,Cerebral germinoma,HPO,phenotype,PHENOTYPE_15449
15450,15450,15450,15450,15450,15450,15450,15450,25278,Cold-induced sweating,HPO,phenotype,PHENOTYPE_15450
15451,15451,15451,15451,15451,15451,15451,15451,6001033,Bone marrow cystine accumulation,HPO,phenotype,PHENOTYPE_15451
15452,15452,15452,15452,15452,15452,15452,15452,31475,Status epilepticus without prominent motor symptoms,HPO,phenotype,PHENOTYPE_15452
15453,15453,15453,15453,15453,15453,15453,15453,25522,Elongated chordae tendinae of the mitral valve,HPO,phenotype,PHENOTYPE_15453
15454,15454,15454,15454,15454,15454,15454,15454,5273,Absent nasal septal cartilage,HPO,phenotype,PHENOTYPE_15454
15455,15455,15455,15455,15455,15455,15455,15455,10155,Ivory epiphysis of the 1st metatarsal,HPO,phenotype,PHENOTYPE_15455
15456,15456,15456,15456,15456,15456,15456,15456,3224,Increased cellular sensitivity to UV light,HPO,phenotype,PHENOTYPE_15456
15457,15457,15457,15457,15457,15457,15457,15457,3000013,Abnormal platysma muscle morphology,HPO,phenotype,PHENOTYPE_15457
15458,15458,15458,15458,15458,15458,15458,15458,32765,Focal autonomic seizure with urge to urinate/defecate,HPO,phenotype,PHENOTYPE_15458
15459,15459,15459,15459,15459,15459,15459,15459,32857,Focal aware motor seizure with negative myoclonus,HPO,phenotype,PHENOTYPE_15459
15460,15460,15460,15460,15460,15460,15460,15460,100674,Vaginal hematocele,HPO,phenotype,PHENOTYPE_15460
15461,15461,15461,15461,15461,15461,15461,15461,6001106,Exposure to repetitive hand impact,HPO,phenotype,PHENOTYPE_15461
15462,15462,15462,15462,15462,15462,15462,15462,430029,Hyperplasia of the premaxilla,HPO,phenotype,PHENOTYPE_15462
15463,15463,15463,15463,15463,15463,15463,15463,32282,Contact dermatitis,HPO,phenotype,PHENOTYPE_15463
15464,15464,15464,15464,15464,15464,15464,15464,11523,Iris cyst,HPO,phenotype,PHENOTYPE_15464
15465,15465,15465,15465,15465,15465,15465,15465,32569,Temporal bossing,HPO,phenotype,PHENOTYPE_15465
15466,15466,15466,15466,15466,15466,15466,15466,2248,Hematemesis,HPO,phenotype,PHENOTYPE_15466
15467,15467,15467,15467,15467,15467,15467,15467,12156,Hemophagocytosis,HPO,phenotype,PHENOTYPE_15467
15468,15468,15468,15468,15468,15468,15468,15468,410378,Decreased proportion of naive CD4 T cells,HPO,phenotype,PHENOTYPE_15468
15469,15469,15469,15469,15469,15469,15469,15469,12645,Enlarged peripheral nerve,HPO,phenotype,PHENOTYPE_15469
15470,15470,15470,15470,15470,15470,15470,15470,410245,Decreased circulating IgD concentration,HPO,phenotype,PHENOTYPE_15470
15471,15471,15471,15471,15471,15471,15471,15471,40269,Blocked Eustachian tube,HPO,phenotype,PHENOTYPE_15471
15472,15472,15472,15472,15472,15472,15472,15472,2088,Abnormal lung morphology,HPO,phenotype,PHENOTYPE_15472
15473,15473,15473,15473,15473,15473,15473,15473,30285,Splayed superior cerebellar peduncle,HPO,phenotype,PHENOTYPE_15473
15474,15474,15474,15474,15474,15474,15474,15474,410073,Increased CSF ribose concentration,HPO,phenotype,PHENOTYPE_15474
15475,15475,15475,15475,15475,15475,15475,15475,6597,Diaphragmatic paralysis,HPO,phenotype,PHENOTYPE_15475
15476,15476,15476,15476,15476,15476,15476,15476,7100,Progressive ventriculomegaly,HPO,phenotype,PHENOTYPE_15476
15477,15477,15477,15477,15477,15477,15477,15477,100545,Arterial stenosis,HPO,phenotype,PHENOTYPE_15477
15478,15478,15478,15478,15478,15478,15478,15478,410386,"Decreased proportion of CD4-positive, alpha-beta memory T cells",HPO,phenotype,PHENOTYPE_15478
15479,15479,15479,15479,15479,15479,15479,15479,33634,Increased alveolar volume,HPO,phenotype,PHENOTYPE_15479
15480,15480,15480,15480,15480,15480,15480,15480,6000519,Elevated circulating inhibin A concentration,HPO,phenotype,PHENOTYPE_15480
15481,15481,15481,15481,15481,15481,15481,15481,34068,Anti-plasminogen binding peptide antibody positivity,HPO,phenotype,PHENOTYPE_15481
15482,15482,15482,15482,15482,15482,15482,15482,33753,Reduced residual volume,HPO,phenotype,PHENOTYPE_15482
15483,15483,15483,15483,15483,15483,15483,15483,892,Bifid ribs,HPO,phenotype,PHENOTYPE_15483
15484,15484,15484,15484,15484,15484,15484,15484,1733,Pancreatitis,HPO,phenotype,PHENOTYPE_15484
15485,15485,15485,15485,15485,15485,15485,15485,8752,Laryngeal cartilage malformation,HPO,phenotype,PHENOTYPE_15485
15486,15486,15486,15486,15486,15486,15486,15486,11358,Generalized hypopigmentation of hair,HPO,phenotype,PHENOTYPE_15486
15487,15487,15487,15487,15487,15487,15487,15487,500037,Nasolacrimal sac epithelial papillary carcinoma,HPO,phenotype,PHENOTYPE_15487
15488,15488,15488,15488,15488,15488,15488,15488,5200426,Delusions of infestation,HPO,phenotype,PHENOTYPE_15488
15489,15489,15489,15489,15489,15489,15489,15489,3435,Cold-induced hand cramps,HPO,phenotype,PHENOTYPE_15489
15490,15490,15490,15490,15490,15490,15490,15490,722,Compulsive behaviors,HPO,phenotype,PHENOTYPE_15490
15491,15491,15491,15491,15491,15491,15491,15491,3038,Fibular hypoplasia,HPO,phenotype,PHENOTYPE_15491
15492,15492,15492,15492,15492,15492,15492,15492,11621,Gerbode ventricular septal defect,HPO,phenotype,PHENOTYPE_15492
15493,15493,15493,15493,15493,15493,15493,15493,3282,Decreased circulating alkaline phosphatase activity,HPO,phenotype,PHENOTYPE_15493
15494,15494,15494,15494,15494,15494,15494,15494,33846,Spinal hypomyelination,HPO,phenotype,PHENOTYPE_15494
15495,15495,15495,15495,15495,15495,15495,15495,100468,Patchy sclerosis of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_15495
15496,15496,15496,15496,15496,15496,15496,15496,200055,Small hand,HPO,phenotype,PHENOTYPE_15496
15497,15497,15497,15497,15497,15497,15497,15497,30333,Abnormal alpha-beta T cell morphology,HPO,phenotype,PHENOTYPE_15497
15498,15498,15498,15498,15498,15498,15498,15498,100644,Melanonychia,HPO,phenotype,PHENOTYPE_15498
15499,15499,15499,15499,15499,15499,15499,15499,6487,Bowing of the long bones,HPO,phenotype,PHENOTYPE_15499
15500,15500,15500,15500,15500,15500,15500,15500,9840,Patchy sclerosis of distal phalanx of finger,HPO,phenotype,PHENOTYPE_15500
15501,15501,15501,15501,15501,15501,15501,15501,7944,Intermittent microsaccadic pursuits,HPO,phenotype,PHENOTYPE_15501
15502,15502,15502,15502,15502,15502,15502,15502,40119,Unilateral conductive hearing impairment,HPO,phenotype,PHENOTYPE_15502
15503,15503,15503,15503,15503,15503,15503,15503,100498,Deviation of toes,HPO,phenotype,PHENOTYPE_15503
15504,15504,15504,15504,15504,15504,15504,15504,30370,Abnormal proportion of naive B cells,HPO,phenotype,PHENOTYPE_15504
15505,15505,15505,15505,15505,15505,15505,15505,100622,Maternal seizure,HPO,phenotype,PHENOTYPE_15505
15506,15506,15506,15506,15506,15506,15506,15506,7768,Central retinal vessel vascular tortuosity,HPO,phenotype,PHENOTYPE_15506
15507,15507,15507,15507,15507,15507,15507,15507,34091,Anti-platelet derived growth factor receptor,HPO,phenotype,PHENOTYPE_15507
15508,15508,15508,15508,15508,15508,15508,15508,5000003,Anti-ARHGAP26 antibody,HPO,phenotype,PHENOTYPE_15508
15509,15509,15509,15509,15509,15509,15509,15509,631,Retinal arterial tortuosity,HPO,phenotype,PHENOTYPE_15509
15510,15510,15510,15510,15510,15510,15510,15510,20215,Thinking-induced seizure,HPO,phenotype,PHENOTYPE_15510
15511,15511,15511,15511,15511,15511,15511,15511,33249,Focal substantia nigra T2 hyperintensity,HPO,phenotype,PHENOTYPE_15511
15512,15512,15512,15512,15512,15512,15512,15512,100326,Immunologic hypersensitivity,HPO,phenotype,PHENOTYPE_15512
15513,15513,15513,15513,15513,15513,15513,15513,2450,Abnormal motor neuron morphology,HPO,phenotype,PHENOTYPE_15513
15514,15514,15514,15514,15514,15514,15514,15514,32546,Abdominal guarding,HPO,phenotype,PHENOTYPE_15514
15515,15515,15515,15515,15515,15515,15515,15515,9823,Aplasia involving bones of the upper limbs,HPO,phenotype,PHENOTYPE_15515
15516,15516,15516,15516,15516,15516,15516,15516,4969,Peripheral pulmonary artery stenosis,HPO,phenotype,PHENOTYPE_15516
15517,15517,15517,15517,15517,15517,15517,15517,1290,Generalized hypotonia,HPO,phenotype,PHENOTYPE_15517
15518,15518,15518,15518,15518,15518,15518,15518,33037,Migratory arthritis,HPO,phenotype,PHENOTYPE_15518
15519,15519,15519,15519,15519,15519,15519,15519,3842,Irregular epiphyses of the upper limbs,HPO,phenotype,PHENOTYPE_15519
15520,15520,15520,15520,15520,15520,15520,15520,33282,Abnormal glomerular basement membrane morphology,HPO,phenotype,PHENOTYPE_15520
15521,15521,15521,15521,15521,15521,15521,15521,10275,Pseudoepiphyses of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_15521
15522,15522,15522,15522,15522,15522,15522,15522,5868,Metaphyseal enchondromatosis,HPO,phenotype,PHENOTYPE_15522
15523,15523,15523,15523,15523,15523,15523,15523,9455,Symphalangism affecting the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_15523
15524,15524,15524,15524,15524,15524,15524,15524,5776,Carpal bone malsegmentation,HPO,phenotype,PHENOTYPE_15524
15525,15525,15525,15525,15525,15525,15525,15525,5000030,Anti-Ri antibody,HPO,phenotype,PHENOTYPE_15525
15526,15526,15526,15526,15526,15526,15526,15526,11942,Increased urinary sulfite level,HPO,phenotype,PHENOTYPE_15526
15527,15527,15527,15527,15527,15527,15527,15527,33643,Increased circulating very long-chain fatty acid concentration,HPO,phenotype,PHENOTYPE_15527
15528,15528,15528,15528,15528,15528,15528,15528,100587,Abnormal preputium morphology,HPO,phenotype,PHENOTYPE_15528
15529,15529,15529,15529,15529,15529,15529,15529,31272,Pulmonary arterial atherosclerosis,HPO,phenotype,PHENOTYPE_15529
15530,15530,15530,15530,15530,15530,15530,15530,32933,Airway hyperresponsiveness,HPO,phenotype,PHENOTYPE_15530
15531,15531,15531,15531,15531,15531,15531,15531,11295,EEG with parietal sharp waves,HPO,phenotype,PHENOTYPE_15531
15532,15532,15532,15532,15532,15532,15532,15532,6001031,Cystine nephrolithiasis,HPO,phenotype,PHENOTYPE_15532
15533,15533,15533,15533,15533,15533,15533,15533,7605,Excessive wrinkling of palmar skin,HPO,phenotype,PHENOTYPE_15533
15534,15534,15534,15534,15534,15534,15534,15534,32581,Abnormal renal insterstitial morphology,HPO,phenotype,PHENOTYPE_15534
15535,15535,15535,15535,15535,15535,15535,15535,11540,Congenitally corrected transposition of the great arteries,HPO,phenotype,PHENOTYPE_15535
15536,15536,15536,15536,15536,15536,15536,15536,1268,Mental deterioration,HPO,phenotype,PHENOTYPE_15536
15537,15537,15537,15537,15537,15537,15537,15537,6193,Thimble-shaped middle phalanges of hand,HPO,phenotype,PHENOTYPE_15537
15538,15538,15538,15538,15538,15538,15538,15538,34366,Fracture blister,HPO,phenotype,PHENOTYPE_15538
15539,15539,15539,15539,15539,15539,15539,15539,5365,Severe B lymphocytopenia,HPO,phenotype,PHENOTYPE_15539
15540,15540,15540,15540,15540,15540,15540,15540,33804,Subepidermal blistering,HPO,phenotype,PHENOTYPE_15540
15541,15541,15541,15541,15541,15541,15541,15541,100315,Lewy bodies,HPO,phenotype,PHENOTYPE_15541
15542,15542,15542,15542,15542,15542,15542,15542,9486,Radial deviation of the hand,HPO,phenotype,PHENOTYPE_15542
15543,15543,15543,15543,15543,15543,15543,15543,6064,Limited interphalangeal movement,HPO,phenotype,PHENOTYPE_15543
15544,15544,15544,15544,15544,15544,15544,15544,4443,Lambdoidal craniosynostosis,HPO,phenotype,PHENOTYPE_15544
15545,15545,15545,15545,15545,15545,15545,15545,34783,Posttussive emesis,HPO,phenotype,PHENOTYPE_15545
15546,15546,15546,15546,15546,15546,15546,15546,30601,Abnormal posterior segment imaging,HPO,phenotype,PHENOTYPE_15546
15547,15547,15547,15547,15547,15547,15547,15547,10267,Triangular epiphyses of the middle phalanges of the hand,HPO,phenotype,PHENOTYPE_15547
15548,15548,15548,15548,15548,15548,15548,15548,410070,Increased level of ribitol in urine,HPO,phenotype,PHENOTYPE_15548
15549,15549,15549,15549,15549,15549,15549,15549,33727,Diffuse lupus nephritis,HPO,phenotype,PHENOTYPE_15549
15550,15550,15550,15550,15550,15550,15550,15550,9614,Bifid proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_15550
15551,15551,15551,15551,15551,15551,15551,15551,10694,Lamellar pulverulent cataract,HPO,phenotype,PHENOTYPE_15551
15552,15552,15552,15552,15552,15552,15552,15552,9491,Enlarged epiphyses of the 2nd finger,HPO,phenotype,PHENOTYPE_15552
15553,15553,15553,15553,15553,15553,15553,15553,40100,Abnormality of the vestibular window,HPO,phenotype,PHENOTYPE_15553
15554,15554,15554,15554,15554,15554,15554,15554,7289,Limb fasciculations,HPO,phenotype,PHENOTYPE_15554
15555,15555,15555,15555,15555,15555,15555,15555,3496,Increased circulating IgM level,HPO,phenotype,PHENOTYPE_15555
15556,15556,15556,15556,15556,15556,15556,15556,40302,Hyperglycerolemia,HPO,phenotype,PHENOTYPE_15556
15557,15557,15557,15557,15557,15557,15557,15557,100732,Pancreatic fibrosis,HPO,phenotype,PHENOTYPE_15557
15558,15558,15558,15558,15558,15558,15558,15558,40191,Rectus femoris muscle atrophy,HPO,phenotype,PHENOTYPE_15558
15559,15559,15559,15559,15559,15559,15559,15559,6000889,Distal radioulnar joint dislocation,HPO,phenotype,PHENOTYPE_15559
15560,15560,15560,15560,15560,15560,15560,15560,7513,Generalized hypopigmentation,HPO,phenotype,PHENOTYPE_15560
15561,15561,15561,15561,15561,15561,15561,15561,262,Turricephaly,HPO,phenotype,PHENOTYPE_15561
15562,15562,15562,15562,15562,15562,15562,15562,11116,Abnormal circulating interferon concentration,HPO,phenotype,PHENOTYPE_15562
15563,15563,15563,15563,15563,15563,15563,15563,2451,Limb dystonia,HPO,phenotype,PHENOTYPE_15563
15564,15564,15564,15564,15564,15564,15564,15564,6634,Osteosclerosis of ribs,HPO,phenotype,PHENOTYPE_15564
15565,15565,15565,15565,15565,15565,15565,15565,7721,Saccular conjunctival dilatations,HPO,phenotype,PHENOTYPE_15565
15566,15566,15566,15566,15566,15566,15566,15566,33512,Addictive stimulant use,HPO,phenotype,PHENOTYPE_15566
15567,15567,15567,15567,15567,15567,15567,15567,6000314,Perimenopausal onset,HPO,phenotype,PHENOTYPE_15567
15568,15568,15568,15568,15568,15568,15568,15568,6000151,Enlarged peroxisomes,HPO,phenotype,PHENOTYPE_15568
15569,15569,15569,15569,15569,15569,15569,15569,10481,Urethral valve,HPO,phenotype,PHENOTYPE_15569
15570,15570,15570,15570,15570,15570,15570,15570,100060,Irregular epiphyses of the 3rd toe,HPO,phenotype,PHENOTYPE_15570
15571,15571,15571,15571,15571,15571,15571,15571,34984,Fetal alcohol exposure,HPO,phenotype,PHENOTYPE_15571
15572,15572,15572,15572,15572,15572,15572,15572,3232,Mitochondrial malic enzyme reduced,HPO,phenotype,PHENOTYPE_15572
15573,15573,15573,15573,15573,15573,15573,15573,30474,Undetectable dark-adapted electroretinogram,HPO,phenotype,PHENOTYPE_15573
15574,15574,15574,15574,15574,15574,15574,15574,34965,Hypoplastic trochlear nerve,HPO,phenotype,PHENOTYPE_15574
15575,15575,15575,15575,15575,15575,15575,15575,12025,Abnormal circulating ornithine concentration,HPO,phenotype,PHENOTYPE_15575
15576,15576,15576,15576,15576,15576,15576,15576,6767,Pituitary prolactin cell adenoma,HPO,phenotype,PHENOTYPE_15576
15577,15577,15577,15577,15577,15577,15577,15577,3550,Predominantly lower limb lymphedema,HPO,phenotype,PHENOTYPE_15577
15578,15578,15578,15578,15578,15578,15578,15578,12375,Chemosis,HPO,phenotype,PHENOTYPE_15578
15579,15579,15579,15579,15579,15579,15579,15579,41061,Fractured calcaneus,HPO,phenotype,PHENOTYPE_15579
15580,15580,15580,15580,15580,15580,15580,15580,6000419,Elevated circulating proinsulin concentration,HPO,phenotype,PHENOTYPE_15580
15581,15581,15581,15581,15581,15581,15581,15581,32946,Renal cortical interstitial inflammation,HPO,phenotype,PHENOTYPE_15581
15582,15582,15582,15582,15582,15582,15582,15582,6000506,Radioulnar subluxation,HPO,phenotype,PHENOTYPE_15582
15583,15583,15583,15583,15583,15583,15583,15583,100935,Sclerosis of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_15583
15584,15584,15584,15584,15584,15584,15584,15584,34553,Absence of peroxisomes,HPO,phenotype,PHENOTYPE_15584
15585,15585,15585,15585,15585,15585,15585,15585,34262,Absent lanugo,HPO,phenotype,PHENOTYPE_15585
15586,15586,15586,15586,15586,15586,15586,15586,12404,Abnormal urine citrate concentration,HPO,phenotype,PHENOTYPE_15586
15587,15587,15587,15587,15587,15587,15587,15587,31637,Right coronary artery ostial atresia,HPO,phenotype,PHENOTYPE_15587
15588,15588,15588,15588,15588,15588,15588,15588,31386,Increased micromegakaryocyte count,HPO,phenotype,PHENOTYPE_15588
15589,15589,15589,15589,15589,15589,15589,15589,6001063,Sweaty foot-like odor,HPO,phenotype,PHENOTYPE_15589
15590,15590,15590,15590,15590,15590,15590,15590,6380,Knee flexion contracture,HPO,phenotype,PHENOTYPE_15590
15591,15591,15591,15591,15591,15591,15591,15591,31178,Fixed head retroflexion,HPO,phenotype,PHENOTYPE_15591
15592,15592,15592,15592,15592,15592,15592,15592,7146,Bilateral basal ganglia lesions,HPO,phenotype,PHENOTYPE_15592
15593,15593,15593,15593,15593,15593,15593,15593,32815,Neonatal electro-clinical myoclonic seizure,HPO,phenotype,PHENOTYPE_15593
15594,15594,15594,15594,15594,15594,15594,15594,7262,Symmetric peripheral demyelination,HPO,phenotype,PHENOTYPE_15594
15595,15595,15595,15595,15595,15595,15595,15595,3367,Abnormal femoral neck morphology,HPO,phenotype,PHENOTYPE_15595
15596,15596,15596,15596,15596,15596,15596,15596,430051,Bloodstream pathogen-specific antibody positivity,HPO,phenotype,PHENOTYPE_15596
15597,15597,15597,15597,15597,15597,15597,15597,100831,Abnormality of vitamin K metabolism,HPO,phenotype,PHENOTYPE_15597
15598,15598,15598,15598,15598,15598,15598,15598,40415,Diffuse breast nodularity,HPO,phenotype,PHENOTYPE_15598
15599,15599,15599,15599,15599,15599,15599,15599,1967,Diffuse mesangial sclerosis,HPO,phenotype,PHENOTYPE_15599
15600,15600,15600,15600,15600,15600,15600,15600,721,Lack of spontaneous play,HPO,phenotype,PHENOTYPE_15600
15601,15601,15601,15601,15601,15601,15601,15601,31710,Compensatory head tilt to the left shoulder,HPO,phenotype,PHENOTYPE_15601
15602,15602,15602,15602,15602,15602,15602,15602,46506,Pain in head and neck region,HPO,phenotype,PHENOTYPE_15602
15603,15603,15603,15603,15603,15603,15603,15603,9088,Speech articulation difficulties,HPO,phenotype,PHENOTYPE_15603
15604,15604,15604,15604,15604,15604,15604,15604,341,Narrow forehead,HPO,phenotype,PHENOTYPE_15604
15605,15605,15605,15605,15605,15605,15605,15605,2691,Platybasia,HPO,phenotype,PHENOTYPE_15605
15606,15606,15606,15606,15606,15606,15606,15606,100176,Pseudoepiphysis of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_15606
15607,15607,15607,15607,15607,15607,15607,15607,5905,Abnormal cervical curvature,HPO,phenotype,PHENOTYPE_15607
15608,15608,15608,15608,15608,15608,15608,15608,12533,Allodynia,HPO,phenotype,PHENOTYPE_15608
15609,15609,15609,15609,15609,15609,15609,15609,32761,Focal aware autonomic seizure with pallor/flushing,HPO,phenotype,PHENOTYPE_15609
15610,15610,15610,15610,15610,15610,15610,15610,4000069,Persistent preoccupation with parts of objects,HPO,phenotype,PHENOTYPE_15610
15611,15611,15611,15611,15611,15611,15611,15611,5060,Limited elbow flexion/extension,HPO,phenotype,PHENOTYPE_15611
15612,15612,15612,15612,15612,15612,15612,15612,9903,Conjunctival nodule,HPO,phenotype,PHENOTYPE_15612
15613,15613,15613,15613,15613,15613,15613,15613,31405,Poroma,HPO,phenotype,PHENOTYPE_15613
15614,15614,15614,15614,15614,15614,15614,15614,3867,Humeral cortical irregularity,HPO,phenotype,PHENOTYPE_15614
15615,15615,15615,15615,15615,15615,15615,15615,12081,Enlarged cerebellum,HPO,phenotype,PHENOTYPE_15615
15616,15616,15616,15616,15616,15616,15616,15616,7398,"Asymmetric, linear skin defects",HPO,phenotype,PHENOTYPE_15616
15617,15617,15617,15617,15617,15617,15617,15617,6000686,Mucus in stool,HPO,phenotype,PHENOTYPE_15617
15618,15618,15618,15618,15618,15618,15618,15618,25068,Incomitant strabismus,HPO,phenotype,PHENOTYPE_15618
15619,15619,15619,15619,15619,15619,15619,15619,30685,Decreased adiponectin level,HPO,phenotype,PHENOTYPE_15619
15620,15620,15620,15620,15620,15620,15620,15620,7950,Peripapillary chorioretinal atrophy,HPO,phenotype,PHENOTYPE_15620
15621,15621,15621,15621,15621,15621,15621,15621,4000033,Non-spinning vertigo,HPO,phenotype,PHENOTYPE_15621
15622,15622,15622,15622,15622,15622,15622,15622,32180,Abnormal circulating metabolite concentration,HPO,phenotype,PHENOTYPE_15622
15623,15623,15623,15623,15623,15623,15623,15623,9668,Fragmentation of the epiphysis of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_15623
15624,15624,15624,15624,15624,15624,15624,15624,11625,Multiple muscular ventricular septal defects,HPO,phenotype,PHENOTYPE_15624
15625,15625,15625,15625,15625,15625,15625,15625,12494,Anterior cerebral artery stenosis,HPO,phenotype,PHENOTYPE_15625
15626,15626,15626,15626,15626,15626,15626,15626,777,Abnormal thymus morphology,HPO,phenotype,PHENOTYPE_15626
15627,15627,15627,15627,15627,15627,15627,15627,33733,Low-grade vesicoureteral reflux,HPO,phenotype,PHENOTYPE_15627
15628,15628,15628,15628,15628,15628,15628,15628,3000059,Abnormal inferior thyroid vein morphology,HPO,phenotype,PHENOTYPE_15628
15629,15629,15629,15629,15629,15629,15629,15629,6000859,Dermal foam cells,HPO,phenotype,PHENOTYPE_15629
15630,15630,15630,15630,15630,15630,15630,15630,33114,Quadruple gallop rhythm,HPO,phenotype,PHENOTYPE_15630
15631,15631,15631,15631,15631,15631,15631,15631,12268,Myxoid liposarcoma,HPO,phenotype,PHENOTYPE_15631
15632,15632,15632,15632,15632,15632,15632,15632,10938,Abnormal external nose morphology,HPO,phenotype,PHENOTYPE_15632
15633,15633,15633,15633,15633,15633,15633,15633,32728,Focal impaired awareness atonic seizure,HPO,phenotype,PHENOTYPE_15633
15634,15634,15634,15634,15634,15634,15634,15634,8114,Metatarsal diaphyseal endosteal sclerosis,HPO,phenotype,PHENOTYPE_15634
15635,15635,15635,15635,15635,15635,15635,15635,33789,Triggered by cheese ingestion,HPO,phenotype,PHENOTYPE_15635
15636,15636,15636,15636,15636,15636,15636,15636,2207,Diffuse reticular or finely nodular infiltrations,HPO,phenotype,PHENOTYPE_15636
15637,15637,15637,15637,15637,15637,15637,15637,5494,Premature posterior fontanelle closure,HPO,phenotype,PHENOTYPE_15637
15638,15638,15638,15638,15638,15638,15638,15638,1147,Retinal exudate,HPO,phenotype,PHENOTYPE_15638
15639,15639,15639,15639,15639,15639,15639,15639,5825,Mixed sclerosis of humeral metaphyses,HPO,phenotype,PHENOTYPE_15639
15640,15640,15640,15640,15640,15640,15640,15640,12845,Single trichilemmoma,HPO,phenotype,PHENOTYPE_15640
15641,15641,15641,15641,15641,15641,15641,15641,5200065,Tactile sensory seeking,HPO,phenotype,PHENOTYPE_15641
15642,15642,15642,15642,15642,15642,15642,15642,31807,Increased basophil count,HPO,phenotype,PHENOTYPE_15642
15643,15643,15643,15643,15643,15643,15643,15643,2213,Fine hair,HPO,phenotype,PHENOTYPE_15643
15644,15644,15644,15644,15644,15644,15644,15644,9188,Pseudoepiphysis of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_15644
15645,15645,15645,15645,15645,15645,15645,15645,4414,Abnormality of the pulmonary artery,HPO,phenotype,PHENOTYPE_15645
15646,15646,15646,15646,15646,15646,15646,15646,2057,Prominent glabella,HPO,phenotype,PHENOTYPE_15646
15647,15647,15647,15647,15647,15647,15647,15647,12129,Abnormality of bone marrow stromal cells,HPO,phenotype,PHENOTYPE_15647
15648,15648,15648,15648,15648,15648,15648,15648,6000929,Neutralizing anti-rabies virus antibody positivity,HPO,phenotype,PHENOTYPE_15648
15649,15649,15649,15649,15649,15649,15649,15649,5200409,Delusional memory,HPO,phenotype,PHENOTYPE_15649
15650,15650,15650,15650,15650,15650,15650,15650,31982,Abnormal putamen morphology,HPO,phenotype,PHENOTYPE_15650
15651,15651,15651,15651,15651,15651,15651,15651,33763,Death in adulthood,HPO,phenotype,PHENOTYPE_15651
15652,15652,15652,15652,15652,15652,15652,15652,3986,Exostoses of the radius,HPO,phenotype,PHENOTYPE_15652
15653,15653,15653,15653,15653,15653,15653,15653,31282,Malalignment of the great toenail,HPO,phenotype,PHENOTYPE_15653
15654,15654,15654,15654,15654,15654,15654,15654,7620,Cutaneous leiomyoma,HPO,phenotype,PHENOTYPE_15654
15655,15655,15655,15655,15655,15655,15655,15655,10191,Symphalangism affecting the distal phalanges of the toes,HPO,phenotype,PHENOTYPE_15655
15656,15656,15656,15656,15656,15656,15656,15656,4808,Acute myeloid leukemia,HPO,phenotype,PHENOTYPE_15656
15657,15657,15657,15657,15657,15657,15657,15657,6782,Malignant eosinophil proliferation,HPO,phenotype,PHENOTYPE_15657
15658,15658,15658,15658,15658,15658,15658,15658,9649,Aplasia of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_15658
15659,15659,15659,15659,15659,15659,15659,15659,5070,Proximal radial head dislocation,HPO,phenotype,PHENOTYPE_15659
15660,15660,15660,15660,15660,15660,15660,15660,2508,Brainstem dysplasia,HPO,phenotype,PHENOTYPE_15660
15661,15661,15661,15661,15661,15661,15661,15661,10342,Abnormality of the phalanges of the 5th toe,HPO,phenotype,PHENOTYPE_15661
15662,15662,15662,15662,15662,15662,15662,15662,8788,Delayed pubic bone ossification,HPO,phenotype,PHENOTYPE_15662
15663,15663,15663,15663,15663,15663,15663,15663,6485,Agenesis of incisor,HPO,phenotype,PHENOTYPE_15663
15664,15664,15664,15664,15664,15664,15664,15664,11981,Pigment gallstones,HPO,phenotype,PHENOTYPE_15664
15665,15665,15665,15665,15665,15665,15665,15665,25496,Abnormal coronary artery physiology,HPO,phenotype,PHENOTYPE_15665
15666,15666,15666,15666,15666,15666,15666,15666,3225,Reduced coagulation factor V activity,HPO,phenotype,PHENOTYPE_15666
15667,15667,15667,15667,15667,15667,15667,15667,205,Pursed lips,HPO,phenotype,PHENOTYPE_15667
15668,15668,15668,15668,15668,15668,15668,15668,32656,Febrile status epilepticus,HPO,phenotype,PHENOTYPE_15668
15669,15669,15669,15669,15669,15669,15669,15669,36,Abnormal penis morphology,HPO,phenotype,PHENOTYPE_15669
15670,15670,15670,15670,15670,15670,15670,15670,410043,Abnormal neural tube morphology,HPO,phenotype,PHENOTYPE_15670
15671,15671,15671,15671,15671,15671,15671,15671,45082,Decreased body mass index,HPO,phenotype,PHENOTYPE_15671
15672,15672,15672,15672,15672,15672,15672,15672,5256,Unilateral absence of pectoralis major muscle,HPO,phenotype,PHENOTYPE_15672
15673,15673,15673,15673,15673,15673,15673,15673,34860,Reduced leukocyte alpha-L-fucosidase activity,HPO,phenotype,PHENOTYPE_15673
15674,15674,15674,15674,15674,15674,15674,15674,1169,Broad palm,HPO,phenotype,PHENOTYPE_15674
15675,15675,15675,15675,15675,15675,15675,15675,2149,Hyperuricemia,HPO,phenotype,PHENOTYPE_15675
15676,15676,15676,15676,15676,15676,15676,15676,347,Micrognathia,HPO,phenotype,PHENOTYPE_15676
15677,15677,15677,15677,15677,15677,15677,15677,34997,Reduced intraepidermal small nerve fiber density,HPO,phenotype,PHENOTYPE_15677
15678,15678,15678,15678,15678,15678,15678,15678,11759,Pituitary gonadotropic cell adenoma,HPO,phenotype,PHENOTYPE_15678
15679,15679,15679,15679,15679,15679,15679,15679,6000996,Intraspinal extradural lipoma,HPO,phenotype,PHENOTYPE_15679
15680,15680,15680,15680,15680,15680,15680,15680,41167,Fractured cervical vertebra,HPO,phenotype,PHENOTYPE_15680
15681,15681,15681,15681,15681,15681,15681,15681,33976,Volar fingernail,HPO,phenotype,PHENOTYPE_15681
15682,15682,15682,15682,15682,15682,15682,15682,45060,Aplasia/hypoplasia involving bones of the extremities,HPO,phenotype,PHENOTYPE_15682
15683,15683,15683,15683,15683,15683,15683,15683,6488,Bowing of the arm,HPO,phenotype,PHENOTYPE_15683
15684,15684,15684,15684,15684,15684,15684,15684,9688,Cone-shaped epiphysis of the thumb,HPO,phenotype,PHENOTYPE_15684
15685,15685,15685,15685,15685,15685,15685,15685,4372,Reduced consciousness,HPO,phenotype,PHENOTYPE_15685
15686,15686,15686,15686,15686,15686,15686,15686,6000904,Positive Vibrio cholerae stool culture,HPO,phenotype,PHENOTYPE_15686
15687,15687,15687,15687,15687,15687,15687,15687,10600,Abnormal distal ulnar epiphysis morphology,HPO,phenotype,PHENOTYPE_15687
15688,15688,15688,15688,15688,15688,15688,15688,571,Hypometric saccades,HPO,phenotype,PHENOTYPE_15688
15689,15689,15689,15689,15689,15689,15689,15689,8410,Subungual hyperkeratotic fragments,HPO,phenotype,PHENOTYPE_15689
15690,15690,15690,15690,15690,15690,15690,15690,6000704,Elevated circulating CXCL9 concentration,HPO,phenotype,PHENOTYPE_15690
15691,15691,15691,15691,15691,15691,15691,15691,6106,Absent trapezoid bone,HPO,phenotype,PHENOTYPE_15691
15692,15692,15692,15692,15692,15692,15692,15692,12139,Granulocytic hypoplasia,HPO,phenotype,PHENOTYPE_15692
15693,15693,15693,15693,15693,15693,15693,15693,6000418,Rheumatoid nodule,HPO,phenotype,PHENOTYPE_15693
15694,15694,15694,15694,15694,15694,15694,15694,34233,Disc kidney,HPO,phenotype,PHENOTYPE_15694
15695,15695,15695,15695,15695,15695,15695,15695,11109,Chronic sinusitis,HPO,phenotype,PHENOTYPE_15695
15696,15696,15696,15696,15696,15696,15696,15696,25116,Fetal distress,HPO,phenotype,PHENOTYPE_15696
15697,15697,15697,15697,15697,15697,15697,15697,5201015,Craniofacial cleft,HPO,phenotype,PHENOTYPE_15697
15698,15698,15698,15698,15698,15698,15698,15698,11432,Elevated maternal circulating alpha-fetoprotein concentration,HPO,phenotype,PHENOTYPE_15698
15699,15699,15699,15699,15699,15699,15699,15699,3864,Bifid humerus,HPO,phenotype,PHENOTYPE_15699
15700,15700,15700,15700,15700,15700,15700,15700,10976,B lymphocytopenia,HPO,phenotype,PHENOTYPE_15700
15701,15701,15701,15701,15701,15701,15701,15701,100942,Sclerosis of the distal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_15701
15702,15702,15702,15702,15702,15702,15702,15702,10995,Abnormal circulating dicarboxylic acid concentration,HPO,phenotype,PHENOTYPE_15702
15703,15703,15703,15703,15703,15703,15703,15703,25020,Elevated prostate-specific antigen level,HPO,phenotype,PHENOTYPE_15703
15704,15704,15704,15704,15704,15704,15704,15704,32446,Pulmonary bulla,HPO,phenotype,PHENOTYPE_15704
15705,15705,15705,15705,15705,15705,15705,15705,410153,Increased level of methylsuccinic acid in urine,HPO,phenotype,PHENOTYPE_15705
15706,15706,15706,15706,15706,15706,15706,15706,35025,Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration,HPO,phenotype,PHENOTYPE_15706
15707,15707,15707,15707,15707,15707,15707,15707,3533,Reduced acetaldehyde dehydrogenase level,HPO,phenotype,PHENOTYPE_15707
15708,15708,15708,15708,15708,15708,15708,15708,100901,Sclerosis of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_15708
15709,15709,15709,15709,15709,15709,15709,15709,6234,Osteolysis involving tarsal bones,HPO,phenotype,PHENOTYPE_15709
15710,15710,15710,15710,15710,15710,15710,15710,6000228,Failure to increase oxygen saturation on hyperoxia test,HPO,phenotype,PHENOTYPE_15710
15711,15711,15711,15711,15711,15711,15711,15711,6492,Aplasia/Hypoplasia of the fibula,HPO,phenotype,PHENOTYPE_15711
15712,15712,15712,15712,15712,15712,15712,15712,5616,Accelerated skeletal maturation,HPO,phenotype,PHENOTYPE_15712
15713,15713,15713,15713,15713,15713,15713,15713,9508,Ivory epiphysis of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_15713
15714,15714,15714,15714,15714,15714,15714,15714,9292,Broad distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_15714
15715,15715,15715,15715,15715,15715,15715,15715,680,Delayed eruption of primary teeth,HPO,phenotype,PHENOTYPE_15715
15716,15716,15716,15716,15716,15716,15716,15716,25710,Late young adult onset,HPO,phenotype,PHENOTYPE_15716
15717,15717,15717,15717,15717,15717,15717,15717,31599,P mitrale,HPO,phenotype,PHENOTYPE_15717
15718,15718,15718,15718,15718,15718,15718,15718,7465,Honeycomb palmoplantar hyperkeratosis,HPO,phenotype,PHENOTYPE_15718
15719,15719,15719,15719,15719,15719,15719,15719,6000108,Abnormal urethral discharge,HPO,phenotype,PHENOTYPE_15719
15720,15720,15720,15720,15720,15720,15720,15720,12405,Hypocitraturia,HPO,phenotype,PHENOTYPE_15720
15721,15721,15721,15721,15721,15721,15721,15721,33064,Renal interstitial globotriaosylceramide inclusions,HPO,phenotype,PHENOTYPE_15721
15722,15722,15722,15722,15722,15722,15722,15722,8318,Elevated leukocyte alkaline phosphatase,HPO,phenotype,PHENOTYPE_15722
15723,15723,15723,15723,15723,15723,15723,15723,25326,Retinal arterial occlusion,HPO,phenotype,PHENOTYPE_15723
15724,15724,15724,15724,15724,15724,15724,15724,11508,Macular hole,HPO,phenotype,PHENOTYPE_15724
15725,15725,15725,15725,15725,15725,15725,15725,33592,Anti-H3-H4 antibody positivity,HPO,phenotype,PHENOTYPE_15725
15726,15726,15726,15726,15726,15726,15726,15726,31594,PR segment depression,HPO,phenotype,PHENOTYPE_15726
15727,15727,15727,15727,15727,15727,15727,15727,12355,Abnormal mannosylation of N-linked protein glycosylation,HPO,phenotype,PHENOTYPE_15727
15728,15728,15728,15728,15728,15728,15728,15728,9392,Triangular epiphyses of the 5th finger,HPO,phenotype,PHENOTYPE_15728
15729,15729,15729,15729,15729,15729,15729,15729,1167,Abnormal finger morphology,HPO,phenotype,PHENOTYPE_15729
15730,15730,15730,15730,15730,15730,15730,15730,30217,Limb apraxia,HPO,phenotype,PHENOTYPE_15730
15731,15731,15731,15731,15731,15731,15731,15731,31222,Increased circulating thyroxine-binding globulin level,HPO,phenotype,PHENOTYPE_15731
15732,15732,15732,15732,15732,15732,15732,15732,12391,Hyporeflexia of upper limbs,HPO,phenotype,PHENOTYPE_15732
15733,15733,15733,15733,15733,15733,15733,15733,33275,Glomerular endothelial tubuloreticular inclusion,HPO,phenotype,PHENOTYPE_15733
15734,15734,15734,15734,15734,15734,15734,15734,6000448,Anti-desmocollin antibody positivity,HPO,phenotype,PHENOTYPE_15734
15735,15735,15735,15735,15735,15735,15735,15735,34517,Pretibial hyperpigmentation,HPO,phenotype,PHENOTYPE_15735
15736,15736,15736,15736,15736,15736,15736,15736,6000761,Positive CSF cryptococcal antigen test,HPO,phenotype,PHENOTYPE_15736
15737,15737,15737,15737,15737,15737,15737,15737,7109,Periventricular cysts,HPO,phenotype,PHENOTYPE_15737
15738,15738,15738,15738,15738,15738,15738,15738,2700,Large foramen magnum,HPO,phenotype,PHENOTYPE_15738
15739,15739,15739,15739,15739,15739,15739,15739,3000012,Abnormality of palatopharyngeus muscle,HPO,phenotype,PHENOTYPE_15739
15740,15740,15740,15740,15740,15740,15740,15740,8094,Widely spaced toes,HPO,phenotype,PHENOTYPE_15740
15741,15741,15741,15741,15741,15741,15741,15741,25081,Darier's sign,HPO,phenotype,PHENOTYPE_15741
15742,15742,15742,15742,15742,15742,15742,15742,33299,Reduced circulating complement factor H related protein 1 concentration,HPO,phenotype,PHENOTYPE_15742
15743,15743,15743,15743,15743,15743,15743,15743,222,Gingival hyperkeratosis,HPO,phenotype,PHENOTYPE_15743
15744,15744,15744,15744,15744,15744,15744,15744,33707,Perioral hyperkeratosis,HPO,phenotype,PHENOTYPE_15744
15745,15745,15745,15745,15745,15745,15745,15745,350,Small forehead,HPO,phenotype,PHENOTYPE_15745
15746,15746,15746,15746,15746,15746,15746,15746,41249,Fractured nose,HPO,phenotype,PHENOTYPE_15746
15747,15747,15747,15747,15747,15747,15747,15747,627,Posterior embryotoxon,HPO,phenotype,PHENOTYPE_15747
15748,15748,15748,15748,15748,15748,15748,15748,10263,Ivory epiphyses of the middle phalanges of the hand,HPO,phenotype,PHENOTYPE_15748
15749,15749,15749,15749,15749,15749,15749,15749,9826,Limb undergrowth,HPO,phenotype,PHENOTYPE_15749
15750,15750,15750,15750,15750,15750,15750,15750,31954,Dystonic gait,HPO,phenotype,PHENOTYPE_15750
15751,15751,15751,15751,15751,15751,15751,15751,10771,Pilonidal abscess,HPO,phenotype,PHENOTYPE_15751
15752,15752,15752,15752,15752,15752,15752,15752,33120,Nummular eczema,HPO,phenotype,PHENOTYPE_15752
15753,15753,15753,15753,15753,15753,15753,15753,33951,Cortical radial artery intraluminal organized thrombi,HPO,phenotype,PHENOTYPE_15753
15754,15754,15754,15754,15754,15754,15754,15754,6000739,Positive bloodstream adenovirus nucleic acid test,HPO,phenotype,PHENOTYPE_15754
15755,15755,15755,15755,15755,15755,15755,15755,9817,Aplasia involving bones of the lower limbs,HPO,phenotype,PHENOTYPE_15755
15756,15756,15756,15756,15756,15756,15756,15756,6000741,Positive bloodstream MERS coronavirus nucleic acid test,HPO,phenotype,PHENOTYPE_15756
15757,15757,15757,15757,15757,15757,15757,15757,8445,Cervical spinal canal stenosis,HPO,phenotype,PHENOTYPE_15757
15758,15758,15758,15758,15758,15758,15758,15758,10145,Pseudoepiphysis of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_15758
15759,15759,15759,15759,15759,15759,15759,15759,10920,Zonular cataract,HPO,phenotype,PHENOTYPE_15759
15760,15760,15760,15760,15760,15760,15760,15760,2604,Gastrointestinal telangiectasia,HPO,phenotype,PHENOTYPE_15760
15761,15761,15761,15761,15761,15761,15761,15761,6000378,Delayed scintigraphic gallbladder filling,HPO,phenotype,PHENOTYPE_15761
15762,15762,15762,15762,15762,15762,15762,15762,10205,Bullet-shaped proximal toe phalanx,HPO,phenotype,PHENOTYPE_15762
15763,15763,15763,15763,15763,15763,15763,15763,5532,Macrocytic dyserythropoietic anemia,HPO,phenotype,PHENOTYPE_15763
15764,15764,15764,15764,15764,15764,15764,15764,32986,Smoker-inclusions in alveolar macrophages,HPO,phenotype,PHENOTYPE_15764
15765,15765,15765,15765,15765,15765,15765,15765,31165,Multifocal seizures,HPO,phenotype,PHENOTYPE_15765
15766,15766,15766,15766,15766,15766,15766,15766,34859,Reduced tissue beta-glucuronidase activity,HPO,phenotype,PHENOTYPE_15766
15767,15767,15767,15767,15767,15767,15767,15767,30692,Brain neoplasm,HPO,phenotype,PHENOTYPE_15767
15768,15768,15768,15768,15768,15768,15768,15768,3994,Dislocated wrist,HPO,phenotype,PHENOTYPE_15768
15769,15769,15769,15769,15769,15769,15769,15769,2632,Low-to-normal blood pressure,HPO,phenotype,PHENOTYPE_15769
15770,15770,15770,15770,15770,15770,15770,15770,9275,Contracture of the distal interphalangeal joint of the 4th finger,HPO,phenotype,PHENOTYPE_15770
15771,15771,15771,15771,15771,15771,15771,15771,2123,Generalized myoclonic seizure,HPO,phenotype,PHENOTYPE_15771
15772,15772,15772,15772,15772,15772,15772,15772,3400,Basal lamina onion bulb formation,HPO,phenotype,PHENOTYPE_15772
15773,15773,15773,15773,15773,15773,15773,15773,6001013,Mechanic's hands,HPO,phenotype,PHENOTYPE_15773
15774,15774,15774,15774,15774,15774,15774,15774,25405,Visual fixation instability,HPO,phenotype,PHENOTYPE_15774
15775,15775,15775,15775,15775,15775,15775,15775,31035,Chronic infection,HPO,phenotype,PHENOTYPE_15775
15776,15776,15776,15776,15776,15776,15776,15776,7903,Paravenous chorioretinal atrophy,HPO,phenotype,PHENOTYPE_15776
15777,15777,15777,15777,15777,15777,15777,15777,10975,Abnormal B cell count,HPO,phenotype,PHENOTYPE_15777
15778,15778,15778,15778,15778,15778,15778,15778,11767,Abnormality of the parathyroid physiology,HPO,phenotype,PHENOTYPE_15778
15779,15779,15779,15779,15779,15779,15779,15779,117,Renal phosphate wasting,HPO,phenotype,PHENOTYPE_15779
15780,15780,15780,15780,15780,15780,15780,15780,10030,Osteolytic defects of the 1st metacarpal,HPO,phenotype,PHENOTYPE_15780
15781,15781,15781,15781,15781,15781,15781,15781,7258,Severe demyelination of the white matter,HPO,phenotype,PHENOTYPE_15781
15782,15782,15782,15782,15782,15782,15782,15782,7265,Absent mesencephalon,HPO,phenotype,PHENOTYPE_15782
15783,15783,15783,15783,15783,15783,15783,15783,10514,Hyperpituitarism,HPO,phenotype,PHENOTYPE_15783
15784,15784,15784,15784,15784,15784,15784,15784,10284,Intra-oral hyperpigmentation,HPO,phenotype,PHENOTYPE_15784
15785,15785,15785,15785,15785,15785,15785,15785,12574,Mesangial hypercellularity,HPO,phenotype,PHENOTYPE_15785
15786,15786,15786,15786,15786,15786,15786,15786,4000052,Avulsion fracture,HPO,phenotype,PHENOTYPE_15786
15787,15787,15787,15787,15787,15787,15787,15787,2140,Ischemic stroke,HPO,phenotype,PHENOTYPE_15787
15788,15788,15788,15788,15788,15788,15788,15788,10864,"Intellectual disability, severe",HPO,phenotype,PHENOTYPE_15788
15789,15789,15789,15789,15789,15789,15789,15789,33835,Abnormal renal vascular morphology,HPO,phenotype,PHENOTYPE_15789
15790,15790,15790,15790,15790,15790,15790,15790,31577,Tessier number 5 facial cleft,HPO,phenotype,PHENOTYPE_15790
15791,15791,15791,15791,15791,15791,15791,15791,32399,Dysgyria with normal cortical thickness,HPO,phenotype,PHENOTYPE_15791
15792,15792,15792,15792,15792,15792,15792,15792,6000844,Nematode in retina,HPO,phenotype,PHENOTYPE_15792
15793,15793,15793,15793,15793,15793,15793,15793,34698,Abnormal aromatase activity,HPO,phenotype,PHENOTYPE_15793
15794,15794,15794,15794,15794,15794,15794,15794,34018,Anti-class II HLA antibody positivity,HPO,phenotype,PHENOTYPE_15794
15795,15795,15795,15795,15795,15795,15795,15795,100682,Tracheal atresia,HPO,phenotype,PHENOTYPE_15795
15796,15796,15796,15796,15796,15796,15796,15796,31912,Trigeminal anesthesia,HPO,phenotype,PHENOTYPE_15796
15797,15797,15797,15797,15797,15797,15797,15797,34242,Abnormal fetal genitourinary system morphology,HPO,phenotype,PHENOTYPE_15797
15798,15798,15798,15798,15798,15798,15798,15798,8750,Laryngeal atresia,HPO,phenotype,PHENOTYPE_15798
15799,15799,15799,15799,15799,15799,15799,15799,6470,Thin long bone diaphyses,HPO,phenotype,PHENOTYPE_15799
15800,15800,15800,15800,15800,15800,15800,15800,640,Gaze-evoked nystagmus,HPO,phenotype,PHENOTYPE_15800
15801,15801,15801,15801,15801,15801,15801,15801,4000038,Infantile hydrocele,HPO,phenotype,PHENOTYPE_15801
15802,15802,15802,15802,15802,15802,15802,15802,33165,Necrotizing enterocolitis,HPO,phenotype,PHENOTYPE_15802
15803,15803,15803,15803,15803,15803,15803,15803,410354,Increased sialylated N-glycan level,HPO,phenotype,PHENOTYPE_15803
15804,15804,15804,15804,15804,15804,15804,15804,12733,Macule,HPO,phenotype,PHENOTYPE_15804
15805,15805,15805,15805,15805,15805,15805,15805,430082,Anti-Dengue virus antibody positivity,HPO,phenotype,PHENOTYPE_15805
15806,15806,15806,15806,15806,15806,15806,15806,9805,Low-output congestive heart failure,HPO,phenotype,PHENOTYPE_15806
15807,15807,15807,15807,15807,15807,15807,15807,4925,Chronic lactic acidosis,HPO,phenotype,PHENOTYPE_15807
15808,15808,15808,15808,15808,15808,15808,15808,20202,Abnormal Z disk morphology,HPO,phenotype,PHENOTYPE_15808
15809,15809,15809,15809,15809,15809,15809,15809,12457,Medial calcification of medium-sized arteries,HPO,phenotype,PHENOTYPE_15809
15810,15810,15810,15810,15810,15810,15810,15810,9642,Broad distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_15810
15811,15811,15811,15811,15811,15811,15811,15811,3278,Square pelvis bone,HPO,phenotype,PHENOTYPE_15811
15812,15812,15812,15812,15812,15812,15812,15812,12050,Anasarca,HPO,phenotype,PHENOTYPE_15812
15813,15813,15813,15813,15813,15813,15813,15813,34697,Cutaneous telangiectasia,HPO,phenotype,PHENOTYPE_15813
15814,15814,15814,15814,15814,15814,15814,15814,9244,Distal/middle symphalangism of 5th finger,HPO,phenotype,PHENOTYPE_15814
15815,15815,15815,15815,15815,15815,15815,15815,8915,Childhood-onset truncal obesity,HPO,phenotype,PHENOTYPE_15815
15816,15816,15816,15816,15816,15816,15816,15816,32633,Intratubular hyaline casts,HPO,phenotype,PHENOTYPE_15816
15817,15817,15817,15817,15817,15817,15817,15817,11885,Hemorrhage of the eye,HPO,phenotype,PHENOTYPE_15817
15818,15818,15818,15818,15818,15818,15818,15818,33476,Extractable nuclear antigen positivity,HPO,phenotype,PHENOTYPE_15818
15819,15819,15819,15819,15819,15819,15819,15819,9217,Enlarged epiphysis of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_15819
15820,15820,15820,15820,15820,15820,15820,15820,33376,Alveolar septal thickening,HPO,phenotype,PHENOTYPE_15820
15821,15821,15821,15821,15821,15821,15821,15821,33349,Seizure cluster,HPO,phenotype,PHENOTYPE_15821
15822,15822,15822,15822,15822,15822,15822,15822,4389,Intestinal pseudo-obstruction,HPO,phenotype,PHENOTYPE_15822
15823,15823,15823,15823,15823,15823,15823,15823,33658,Rounded atelectasis,HPO,phenotype,PHENOTYPE_15823
15824,15824,15824,15824,15824,15824,15824,15824,100382,Aplasia of the middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_15824
15825,15825,15825,15825,15825,15825,15825,15825,9699,Osteolytic defects of the hand bones,HPO,phenotype,PHENOTYPE_15825
15826,15826,15826,15826,15826,15826,15826,15826,32929,Abnormal chondrocyte morphology,HPO,phenotype,PHENOTYPE_15826
15827,15827,15827,15827,15827,15827,15827,15827,1911,Abnormal granulocyte morphology,HPO,phenotype,PHENOTYPE_15827
15828,15828,15828,15828,15828,15828,15828,15828,20110,Bone fracture,HPO,phenotype,PHENOTYPE_15828
15829,15829,15829,15829,15829,15829,15829,15829,25303,Episodic,HPO,phenotype,PHENOTYPE_15829
15830,15830,15830,15830,15830,15830,15830,15830,25186,Marcus Gunn jaw winking synkinesis,HPO,phenotype,PHENOTYPE_15830
15831,15831,15831,15831,15831,15831,15831,15831,6000209,Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration,HPO,phenotype,PHENOTYPE_15831
15832,15832,15832,15832,15832,15832,15832,15832,5200321,Amplification of sexual behavior,HPO,phenotype,PHENOTYPE_15832
15833,15833,15833,15833,15833,15833,15833,15833,614,Abnormal nasolacrimal system morphology,HPO,phenotype,PHENOTYPE_15833
15834,15834,15834,15834,15834,15834,15834,15834,1141,Severely reduced visual acuity,HPO,phenotype,PHENOTYPE_15834
15835,15835,15835,15835,15835,15835,15835,15835,32626,Intratubular vancomycin casts,HPO,phenotype,PHENOTYPE_15835
15836,15836,15836,15836,15836,15836,15836,15836,3493,Antinuclear antibody positivity,HPO,phenotype,PHENOTYPE_15836
15837,15837,15837,15837,15837,15837,15837,15837,33647,Silhouette sign,HPO,phenotype,PHENOTYPE_15837
15838,15838,15838,15838,15838,15838,15838,15838,6000526,Failure to elevate lactate upon ischemic exercise test,HPO,phenotype,PHENOTYPE_15838
15839,15839,15839,15839,15839,15839,15839,15839,11694,Supraventricular tachycardia with a manifest accessory pathway,HPO,phenotype,PHENOTYPE_15839
15840,15840,15840,15840,15840,15840,15840,15840,1530,Mild postnatal growth retardation,HPO,phenotype,PHENOTYPE_15840
15841,15841,15841,15841,15841,15841,15841,15841,33682,Pleomorphic xanthoastrocytoma,HPO,phenotype,PHENOTYPE_15841
15842,15842,15842,15842,15842,15842,15842,15842,6851,Symmetric spinal nerve root neurofibromas,HPO,phenotype,PHENOTYPE_15842
15843,15843,15843,15843,15843,15843,15843,15843,10743,Short metatarsal,HPO,phenotype,PHENOTYPE_15843
15844,15844,15844,15844,15844,15844,15844,15844,4935,Pulmonary artery atresia,HPO,phenotype,PHENOTYPE_15844
15845,15845,15845,15845,15845,15845,15845,15845,31467,Abnormal negative emotional state,HPO,phenotype,PHENOTYPE_15845
15846,15846,15846,15846,15846,15846,15846,15846,25150,Hypoganglionosis,HPO,phenotype,PHENOTYPE_15846
15847,15847,15847,15847,15847,15847,15847,15847,100109,Stippling of the epiphysis of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_15847
15848,15848,15848,15848,15848,15848,15848,15848,55,Abnormal female external genitalia morphology,HPO,phenotype,PHENOTYPE_15848
15849,15849,15849,15849,15849,15849,15849,15849,6574,Hepatic arteriovenous malformation,HPO,phenotype,PHENOTYPE_15849
15850,15850,15850,15850,15850,15850,15850,15850,7267,Chronic axonal neuropathy,HPO,phenotype,PHENOTYPE_15850
15851,15851,15851,15851,15851,15851,15851,15851,31096,Delayed vertebral ossification,HPO,phenotype,PHENOTYPE_15851
15852,15852,15852,15852,15852,15852,15852,15852,9302,Bullet-shaped distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_15852
15853,15853,15853,15853,15853,15853,15853,15853,100830,Round ear,HPO,phenotype,PHENOTYPE_15853
15854,15854,15854,15854,15854,15854,15854,15854,34385,Abnormal left ventricular endsystolic diameter,HPO,phenotype,PHENOTYPE_15854
15855,15855,15855,15855,15855,15855,15855,15855,212,Gingival overgrowth,HPO,phenotype,PHENOTYPE_15855
15856,15856,15856,15856,15856,15856,15856,15856,3484,Upper limb muscle weakness,HPO,phenotype,PHENOTYPE_15856
15857,15857,15857,15857,15857,15857,15857,15857,11372,Aplasia of the inner ear,HPO,phenotype,PHENOTYPE_15857
15858,15858,15858,15858,15858,15858,15858,15858,10512,Adrenal calcification,HPO,phenotype,PHENOTYPE_15858
15859,15859,15859,15859,15859,15859,15859,15859,125,Pelvic kidney,HPO,phenotype,PHENOTYPE_15859
15860,15860,15860,15860,15860,15860,15860,15860,8291,Pituitary corticotropic cell adenoma,HPO,phenotype,PHENOTYPE_15860
15861,15861,15861,15861,15861,15861,15861,15861,25311,Anterior chamber cyst,HPO,phenotype,PHENOTYPE_15861
15862,15862,15862,15862,15862,15862,15862,15862,33092,Increased urine succinate level,HPO,phenotype,PHENOTYPE_15862
15863,15863,15863,15863,15863,15863,15863,15863,1300,Parkinsonism,HPO,phenotype,PHENOTYPE_15863
15864,15864,15864,15864,15864,15864,15864,15864,32606,Renal tubular epithelial lipofuscin,HPO,phenotype,PHENOTYPE_15864
15865,15865,15865,15865,15865,15865,15865,15865,100748,Muscular edema,HPO,phenotype,PHENOTYPE_15865
15866,15866,15866,15866,15866,15866,15866,15866,31092,Spindle-shaped finger,HPO,phenotype,PHENOTYPE_15866
15867,15867,15867,15867,15867,15867,15867,15867,410139,Exercise induced anaphylaxis,HPO,phenotype,PHENOTYPE_15867
15868,15868,15868,15868,15868,15868,15868,15868,31696,Disseminated viral infection,HPO,phenotype,PHENOTYPE_15868
15869,15869,15869,15869,15869,15869,15869,15869,34961,Gallbladder biliary sludging,HPO,phenotype,PHENOTYPE_15869
15870,15870,15870,15870,15870,15870,15870,15870,6159,Mesoaxial hand polydactyly,HPO,phenotype,PHENOTYPE_15870
15871,15871,15871,15871,15871,15871,15871,15871,5798,Posterior radial head dislocation,HPO,phenotype,PHENOTYPE_15871
15872,15872,15872,15872,15872,15872,15872,15872,6000454,Pneumobilia,HPO,phenotype,PHENOTYPE_15872
15873,15873,15873,15873,15873,15873,15873,15873,34552,Abnormal peroxisomal morphology,HPO,phenotype,PHENOTYPE_15873
15874,15874,15874,15874,15874,15874,15874,15874,11112,Abnormal circulating cytokine concentration,HPO,phenotype,PHENOTYPE_15874
15875,15875,15875,15875,15875,15875,15875,15875,6000229,High-set nipples,HPO,phenotype,PHENOTYPE_15875
15876,15876,15876,15876,15876,15876,15876,15876,34883,Decreased portal vein velocity,HPO,phenotype,PHENOTYPE_15876
15877,15877,15877,15877,15877,15877,15877,15877,41168,Fractured lumbar vertebra,HPO,phenotype,PHENOTYPE_15877
15878,15878,15878,15878,15878,15878,15878,15878,32146,HbC hemoglobin,HPO,phenotype,PHENOTYPE_15878
15879,15879,15879,15879,15879,15879,15879,15879,33945,Arcuate intimal/medial granulomatous venulitis,HPO,phenotype,PHENOTYPE_15879
15880,15880,15880,15880,15880,15880,15880,15880,410362,Decreased O-mannosyl glycans on alpha-dystroglycan,HPO,phenotype,PHENOTYPE_15880
15881,15881,15881,15881,15881,15881,15881,15881,4980,Metaphyseal rarefaction,HPO,phenotype,PHENOTYPE_15881
15882,15882,15882,15882,15882,15882,15882,15882,9685,Triangular epiphysis of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_15882
15883,15883,15883,15883,15883,15883,15883,15883,10638,Elevated alkaline phosphatase of hepatic origin,HPO,phenotype,PHENOTYPE_15883
15884,15884,15884,15884,15884,15884,15884,15884,30729,Frontoethmoidal meningocele,HPO,phenotype,PHENOTYPE_15884
15885,15885,15885,15885,15885,15885,15885,15885,34888,Decreased urine guanidinoacetic acid level,HPO,phenotype,PHENOTYPE_15885
15886,15886,15886,15886,15886,15886,15886,15886,2486,Myotonia,HPO,phenotype,PHENOTYPE_15886
15887,15887,15887,15887,15887,15887,15887,15887,4000068,Abnormal interest,HPO,phenotype,PHENOTYPE_15887
15888,15888,15888,15888,15888,15888,15888,15888,25309,Abnormal pupil shape,HPO,phenotype,PHENOTYPE_15888
15889,15889,15889,15889,15889,15889,15889,15889,11833,Overhanging nasal tip,HPO,phenotype,PHENOTYPE_15889
15890,15890,15890,15890,15890,15890,15890,15890,32632,Renal papillary necrosis,HPO,phenotype,PHENOTYPE_15890
15891,15891,15891,15891,15891,15891,15891,15891,10487,Small hypothenar eminence,HPO,phenotype,PHENOTYPE_15891
15892,15892,15892,15892,15892,15892,15892,15892,11224,Ablepharon,HPO,phenotype,PHENOTYPE_15892
15893,15893,15893,15893,15893,15893,15893,15893,34057,Fetal anomaly,HPO,phenotype,PHENOTYPE_15893
15894,15894,15894,15894,15894,15894,15894,15894,4000107,Positive lupus band test,HPO,phenotype,PHENOTYPE_15894
15895,15895,15895,15895,15895,15895,15895,15895,6000055,Exposure to aquatic animals,HPO,phenotype,PHENOTYPE_15895
15896,15896,15896,15896,15896,15896,15896,15896,2060,Abnormal cerebral morphology,HPO,phenotype,PHENOTYPE_15896
15897,15897,15897,15897,15897,15897,15897,15897,2707,Palate telangiectasia,HPO,phenotype,PHENOTYPE_15897
15898,15898,15898,15898,15898,15898,15898,15898,4459,Exostosis of the external auditory canal,HPO,phenotype,PHENOTYPE_15898
15899,15899,15899,15899,15899,15899,15899,15899,20199,Decreased circulating 18-hydroxycortisone level,HPO,phenotype,PHENOTYPE_15899
15900,15900,15900,15900,15900,15900,15900,15900,31575,Tessier number 3 facial cleft,HPO,phenotype,PHENOTYPE_15900
15901,15901,15901,15901,15901,15901,15901,15901,34723,Elevated CSF hydroxyproline concentration,HPO,phenotype,PHENOTYPE_15901
15902,15902,15902,15902,15902,15902,15902,15902,6119,Proximal tapering of metacarpals,HPO,phenotype,PHENOTYPE_15902
15903,15903,15903,15903,15903,15903,15903,15903,10193,Duplication of distal phalanx of toe,HPO,phenotype,PHENOTYPE_15903
15904,15904,15904,15904,15904,15904,15904,15904,194,Open mouth,HPO,phenotype,PHENOTYPE_15904
15905,15905,15905,15905,15905,15905,15905,15905,6150,Swan neck-like deformities of the fingers,HPO,phenotype,PHENOTYPE_15905
15906,15906,15906,15906,15906,15906,15906,15906,7889,Iridescent posterior subcapsular cataract,HPO,phenotype,PHENOTYPE_15906
15907,15907,15907,15907,15907,15907,15907,15907,6665,Coat hanger sign of ribs,HPO,phenotype,PHENOTYPE_15907
15908,15908,15908,15908,15908,15908,15908,15908,1648,Cor pulmonale,HPO,phenotype,PHENOTYPE_15908
15909,15909,15909,15909,15909,15909,15909,15909,5249,Functional intestinal obstruction,HPO,phenotype,PHENOTYPE_15909
15910,15910,15910,15910,15910,15910,15910,15910,30360,Large cell lung carcinoma,HPO,phenotype,PHENOTYPE_15910
15911,15911,15911,15911,15911,15911,15911,15911,6000132,Reduced erythrocyte gamma-glutamyl cysteine synthetase activity,HPO,phenotype,PHENOTYPE_15911
15912,15912,15912,15912,15912,15912,15912,15912,31391,Elevated MHC II cell surface expression,HPO,phenotype,PHENOTYPE_15912
15913,15913,15913,15913,15913,15913,15913,15913,33383,Decreased compound muscle action potential amplitude,HPO,phenotype,PHENOTYPE_15913
15914,15914,15914,15914,15914,15914,15914,15914,420,Short nasal septum,HPO,phenotype,PHENOTYPE_15914
15915,15915,15915,15915,15915,15915,15915,15915,408,Progressive sensorineural hearing impairment,HPO,phenotype,PHENOTYPE_15915
15916,15916,15916,15916,15916,15916,15916,15916,12630,Abnormal trabecular meshwork morphology,HPO,phenotype,PHENOTYPE_15916
15917,15917,15917,15917,15917,15917,15917,15917,25265,Stiff toe,HPO,phenotype,PHENOTYPE_15917
15918,15918,15918,15918,15918,15918,15918,15918,30789,Excessive cerumen,HPO,phenotype,PHENOTYPE_15918
15919,15919,15919,15919,15919,15919,15919,15919,8113,Multiple plantar creases,HPO,phenotype,PHENOTYPE_15919
15920,15920,15920,15920,15920,15920,15920,15920,410377,Decreased proportion of naive CD8 T cells,HPO,phenotype,PHENOTYPE_15920
15921,15921,15921,15921,15921,15921,15921,15921,3655,Reduced level of N-acetylglucosaminyltransferase II,HPO,phenotype,PHENOTYPE_15921
15922,15922,15922,15922,15922,15922,15922,15922,32517,Majocchi's granuloma,HPO,phenotype,PHENOTYPE_15922
15923,15923,15923,15923,15923,15923,15923,15923,112,Nephropathy,HPO,phenotype,PHENOTYPE_15923
15924,15924,15924,15924,15924,15924,15924,15924,6386,Hypoplastic distal radial epiphyses,HPO,phenotype,PHENOTYPE_15924
15925,15925,15925,15925,15925,15925,15925,15925,35022,Elevated circulating very long-chain acylcarnitine concentration,HPO,phenotype,PHENOTYPE_15925
15926,15926,15926,15926,15926,15926,15926,15926,4015,Abnormal radial metaphysis morphology,HPO,phenotype,PHENOTYPE_15926
15927,15927,15927,15927,15927,15927,15927,15927,3886,Wide humerus,HPO,phenotype,PHENOTYPE_15927
15928,15928,15928,15928,15928,15928,15928,15928,6932,Transient psychotic episodes,HPO,phenotype,PHENOTYPE_15928
15929,15929,15929,15929,15929,15929,15929,15929,33861,Multilamellation of cortical peritubular capillary basement membranes,HPO,phenotype,PHENOTYPE_15929
15930,15930,15930,15930,15930,15930,15930,15930,32715,Focal bilateral motor seizure,HPO,phenotype,PHENOTYPE_15930
15931,15931,15931,15931,15931,15931,15931,15931,11270,Duplicated tragus,HPO,phenotype,PHENOTYPE_15931
15932,15932,15932,15932,15932,15932,15932,15932,100068,Cone-shaped epiphyses of the 4th toe,HPO,phenotype,PHENOTYPE_15932
15933,15933,15933,15933,15933,15933,15933,15933,430047,Large joint hypermobilty,HPO,phenotype,PHENOTYPE_15933
15934,15934,15934,15934,15934,15934,15934,15934,11439,Anesthetic-induced rhabdomylosis,HPO,phenotype,PHENOTYPE_15934
15935,15935,15935,15935,15935,15935,15935,15935,12788,Reticulate pigmentation of oral mucosa,HPO,phenotype,PHENOTYPE_15935
15936,15936,15936,15936,15936,15936,15936,15936,3073,Hypoalbuminemia,HPO,phenotype,PHENOTYPE_15936
15937,15937,15937,15937,15937,15937,15937,15937,30819,Ski jump nail,HPO,phenotype,PHENOTYPE_15937
15938,15938,15938,15938,15938,15938,15938,15938,3828,Variable expressivity,HPO,phenotype,PHENOTYPE_15938
15939,15939,15939,15939,15939,15939,15939,15939,33655,Pulmonary cavity,HPO,phenotype,PHENOTYPE_15939
15940,15940,15940,15940,15940,15940,15940,15940,7508,Punctate palmar hyperkeratosis,HPO,phenotype,PHENOTYPE_15940
15941,15941,15941,15941,15941,15941,15941,15941,100232,Small epiphysis of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_15941
15942,15942,15942,15942,15942,15942,15942,15942,4000178,Anti-retroviral therapy exposure,HPO,phenotype,PHENOTYPE_15942
15943,15943,15943,15943,15943,15943,15943,15943,191,Accessory oral frenulum,HPO,phenotype,PHENOTYPE_15943
15944,15944,15944,15944,15944,15944,15944,15944,3376,Steppage gait,HPO,phenotype,PHENOTYPE_15944
15945,15945,15945,15945,15945,15945,15945,15945,7776,Sparse lower eyelashes,HPO,phenotype,PHENOTYPE_15945
15946,15946,15946,15946,15946,15946,15946,15946,33609,Solid pulmonary nodule,HPO,phenotype,PHENOTYPE_15946
15947,15947,15947,15947,15947,15947,15947,15947,12438,Abnormal gallbladder physiology,HPO,phenotype,PHENOTYPE_15947
15948,15948,15948,15948,15948,15948,15948,15948,864,Abnormality of the hypothalamus-pituitary axis,HPO,phenotype,PHENOTYPE_15948
15949,15949,15949,15949,15949,15949,15949,15949,30962,Abnormal morphology of the great vessels,HPO,phenotype,PHENOTYPE_15949
15950,15950,15950,15950,15950,15950,15950,15950,6001199,FInger pulp localization,HPO,phenotype,PHENOTYPE_15950
15951,15951,15951,15951,15951,15951,15951,15951,100105,Irregular epiphysis of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_15951
15952,15952,15952,15952,15952,15952,15952,15952,4000211,Reduced glycerol kinase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_15952
15953,15953,15953,15953,15953,15953,15953,15953,1953,Diabetic ketoacidosis,HPO,phenotype,PHENOTYPE_15953
15954,15954,15954,15954,15954,15954,15954,15954,100594,Esophageal web,HPO,phenotype,PHENOTYPE_15954
15955,15955,15955,15955,15955,15955,15955,15955,3552,Muscle stiffness,HPO,phenotype,PHENOTYPE_15955
15956,15956,15956,15956,15956,15956,15956,15956,11289,EEG with temporal sharp slow waves,HPO,phenotype,PHENOTYPE_15956
15957,15957,15957,15957,15957,15957,15957,15957,31871,Abnormal Langerhans cell morphology,HPO,phenotype,PHENOTYPE_15957
15958,15958,15958,15958,15958,15958,15958,15958,30604,Abnormal fundus fluorescein angiography,HPO,phenotype,PHENOTYPE_15958
15959,15959,15959,15959,15959,15959,15959,15959,500005,Anal pain,HPO,phenotype,PHENOTYPE_15959
15960,15960,15960,15960,15960,15960,15960,15960,25006,Abnormal glomerular capillary morphology,HPO,phenotype,PHENOTYPE_15960
15961,15961,15961,15961,15961,15961,15961,15961,33995,Microvillus inclusions,HPO,phenotype,PHENOTYPE_15961
15962,15962,15962,15962,15962,15962,15962,15962,12364,Decreased urinary potassium,HPO,phenotype,PHENOTYPE_15962
15963,15963,15963,15963,15963,15963,15963,15963,10124,Abnormality of the epiphysis of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_15963
15964,15964,15964,15964,15964,15964,15964,15964,30243,Hepatic vein thrombosis,HPO,phenotype,PHENOTYPE_15964
15965,15965,15965,15965,15965,15965,15965,15965,100112,Bracket epiphysis of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_15965
15966,15966,15966,15966,15966,15966,15966,15966,30972,Abnormal systemic blood pressure,HPO,phenotype,PHENOTYPE_15966
15967,15967,15967,15967,15967,15967,15967,15967,20138,History of recent animal bite,HPO,phenotype,PHENOTYPE_15967
15968,15968,15968,15968,15968,15968,15968,15968,25403,Stooped posture,HPO,phenotype,PHENOTYPE_15968
15969,15969,15969,15969,15969,15969,15969,15969,11190,Uni- and bilateral multifocal epileptiform discharges,HPO,phenotype,PHENOTYPE_15969
15970,15970,15970,15970,15970,15970,15970,15970,4529,"Atrophic, patchy alopecia",HPO,phenotype,PHENOTYPE_15970
15971,15971,15971,15971,15971,15971,15971,15971,30257,Freckled genitalia,HPO,phenotype,PHENOTYPE_15971
15972,15972,15972,15972,15972,15972,15972,15972,31660,Loud first heart sound,HPO,phenotype,PHENOTYPE_15972
15973,15973,15973,15973,15973,15973,15973,15973,11974,Myelofibrosis,HPO,phenotype,PHENOTYPE_15973
15974,15974,15974,15974,15974,15974,15974,15974,11676,Tetralogy of Fallot with absent subarterial conus,HPO,phenotype,PHENOTYPE_15974
15975,15975,15975,15975,15975,15975,15975,15975,31139,Frog-leg posture,HPO,phenotype,PHENOTYPE_15975
15976,15976,15976,15976,15976,15976,15976,15976,4446,Stomatocytosis,HPO,phenotype,PHENOTYPE_15976
15977,15977,15977,15977,15977,15977,15977,15977,3000070,Abnormality of levator anguli oris,HPO,phenotype,PHENOTYPE_15977
15978,15978,15978,15978,15978,15978,15978,15978,5857,Cervical spina bifida,HPO,phenotype,PHENOTYPE_15978
15979,15979,15979,15979,15979,15979,15979,15979,32808,Neonatal seizure with electrographic correlate,HPO,phenotype,PHENOTYPE_15979
15980,15980,15980,15980,15980,15980,15980,15980,7208,Irregular myelin loops,HPO,phenotype,PHENOTYPE_15980
15981,15981,15981,15981,15981,15981,15981,15981,1800,Hypoplastic toenails,HPO,phenotype,PHENOTYPE_15981
15982,15982,15982,15982,15982,15982,15982,15982,7556,Plantar hyperkeratosis,HPO,phenotype,PHENOTYPE_15982
15983,15983,15983,15983,15983,15983,15983,15983,12097,Intracranial dermoid cyst,HPO,phenotype,PHENOTYPE_15983
15984,15984,15984,15984,15984,15984,15984,15984,32710,Focal aware cognitive seizure with receptive dysphasia/aphasia,HPO,phenotype,PHENOTYPE_15984
15985,15985,15985,15985,15985,15985,15985,15985,185,Cleft soft palate,HPO,phenotype,PHENOTYPE_15985
15986,15986,15986,15986,15986,15986,15986,15986,25009,Forward slanting upper incisors,HPO,phenotype,PHENOTYPE_15986
15987,15987,15987,15987,15987,15987,15987,15987,30182,Tetraplegia/tetraparesis,HPO,phenotype,PHENOTYPE_15987
15988,15988,15988,15988,15988,15988,15988,15988,32858,Focal impaired awareness motor seizure with negative myoclonus,HPO,phenotype,PHENOTYPE_15988
15989,15989,15989,15989,15989,15989,15989,15989,3125,Reduced factor VIII activity,HPO,phenotype,PHENOTYPE_15989
15990,15990,15990,15990,15990,15990,15990,15990,4319,Decreased circulating aldosterone concentration,HPO,phenotype,PHENOTYPE_15990
15991,15991,15991,15991,15991,15991,15991,15991,591,Abnormal sclera morphology,HPO,phenotype,PHENOTYPE_15991
15992,15992,15992,15992,15992,15992,15992,15992,860,Parathyroid hypoplasia,HPO,phenotype,PHENOTYPE_15992
15993,15993,15993,15993,15993,15993,15993,15993,914,Shield chest,HPO,phenotype,PHENOTYPE_15993
15994,15994,15994,15994,15994,15994,15994,15994,10681,Elevated intestinal alkaline phosphatase,HPO,phenotype,PHENOTYPE_15994
15995,15995,15995,15995,15995,15995,15995,15995,9655,Patchy sclerosis of thumb phalanx,HPO,phenotype,PHENOTYPE_15995
15996,15996,15996,15996,15996,15996,15996,15996,12666,Severely reduced left ventricular ejection fraction,HPO,phenotype,PHENOTYPE_15996
15997,15997,15997,15997,15997,15997,15997,15997,100809,Scalp tenderness,HPO,phenotype,PHENOTYPE_15997
15998,15998,15998,15998,15998,15998,15998,15998,32457,2-3-layered lissencephaly,HPO,phenotype,PHENOTYPE_15998
15999,15999,15999,15999,15999,15999,15999,15999,32112,Abnormal Pelli Robson contrast sensitivity chart test,HPO,phenotype,PHENOTYPE_15999
16000,16000,16000,16000,16000,16000,16000,16000,3140,T-wave inversion in the right precordial leads,HPO,phenotype,PHENOTYPE_16000
16001,16001,16001,16001,16001,16001,16001,16001,6949,Episodic peripheral neuropathy,HPO,phenotype,PHENOTYPE_16001
16002,16002,16002,16002,16002,16002,16002,16002,33544,Mesangial fibril deposition,HPO,phenotype,PHENOTYPE_16002
16003,16003,16003,16003,16003,16003,16003,16003,8311,Spinal cord posterior columns myelin loss,HPO,phenotype,PHENOTYPE_16003
16004,16004,16004,16004,16004,16004,16004,16004,410357,Increased high-mannose N-glycan level,HPO,phenotype,PHENOTYPE_16004
16005,16005,16005,16005,16005,16005,16005,16005,32490,Decreased fecal pH,HPO,phenotype,PHENOTYPE_16005
16006,16006,16006,16006,16006,16006,16006,16006,33663,Air trapping,HPO,phenotype,PHENOTYPE_16006
16007,16007,16007,16007,16007,16007,16007,16007,32133,Transient decreased circulating total IgG,HPO,phenotype,PHENOTYPE_16007
16008,16008,16008,16008,16008,16008,16008,16008,8850,Severe postnatal growth retardation,HPO,phenotype,PHENOTYPE_16008
16009,16009,16009,16009,16009,16009,16009,16009,34279,"2,8-dihydroxyadenine crystalluria",HPO,phenotype,PHENOTYPE_16009
16010,16010,16010,16010,16010,16010,16010,16010,100260,Mesoaxial polydactyly,HPO,phenotype,PHENOTYPE_16010
16011,16011,16011,16011,16011,16011,16011,16011,3444,EMG: chronic denervation signs,HPO,phenotype,PHENOTYPE_16011
16012,16012,16012,16012,16012,16012,16012,16012,33378,Increased airway neuroepithelial bodies,HPO,phenotype,PHENOTYPE_16012
16013,16013,16013,16013,16013,16013,16013,16013,34275,Verrucous epidermal nevus,HPO,phenotype,PHENOTYPE_16013
16014,16014,16014,16014,16014,16014,16014,16014,12676,Copper accumulation in brain,HPO,phenotype,PHENOTYPE_16014
16015,16015,16015,16015,16015,16015,16015,16015,8458,Progressive congenital scoliosis,HPO,phenotype,PHENOTYPE_16015
16016,16016,16016,16016,16016,16016,16016,16016,5200120,Abnormal social emotional interactions,HPO,phenotype,PHENOTYPE_16016
16017,16017,16017,16017,16017,16017,16017,16017,11103,Abnormal left ventricular outflow tract morphology,HPO,phenotype,PHENOTYPE_16017
16018,16018,16018,16018,16018,16018,16018,16018,6000180,Triggered by volatile organic compounds,HPO,phenotype,PHENOTYPE_16018
16019,16019,16019,16019,16019,16019,16019,16019,4432,Agammaglobulinemia,HPO,phenotype,PHENOTYPE_16019
16020,16020,16020,16020,16020,16020,16020,16020,30722,Ectopic liver,HPO,phenotype,PHENOTYPE_16020
16021,16021,16021,16021,16021,16021,16021,16021,12638,Abnormal nervous system physiology,HPO,phenotype,PHENOTYPE_16021
16022,16022,16022,16022,16022,16022,16022,16022,30076,Lobular carcinoma in situ,HPO,phenotype,PHENOTYPE_16022
16023,16023,16023,16023,16023,16023,16023,16023,20095,Prolonged need of intravenous antibiotic therapy,HPO,phenotype,PHENOTYPE_16023
16024,16024,16024,16024,16024,16024,16024,16024,11299,Partial absence of finger,HPO,phenotype,PHENOTYPE_16024
16025,16025,16025,16025,16025,16025,16025,16025,660,Lipemia retinalis,HPO,phenotype,PHENOTYPE_16025
16026,16026,16026,16026,16026,16026,16026,16026,31287,Seborrheic keratosis,HPO,phenotype,PHENOTYPE_16026
16027,16027,16027,16027,16027,16027,16027,16027,32890,Focal impaired awareness sensory seizure with somatosensory features,HPO,phenotype,PHENOTYPE_16027
16028,16028,16028,16028,16028,16028,16028,16028,9094,Cleft lower alveolar ridge,HPO,phenotype,PHENOTYPE_16028
16029,16029,16029,16029,16029,16029,16029,16029,6442,Hypoplasia of proximal fibula,HPO,phenotype,PHENOTYPE_16029
16030,16030,16030,16030,16030,16030,16030,16030,3540,Impaired platelet aggregation,HPO,phenotype,PHENOTYPE_16030
16031,16031,16031,16031,16031,16031,16031,16031,25118,Lip discoloration,HPO,phenotype,PHENOTYPE_16031
16032,16032,16032,16032,16032,16032,16032,16032,12328,Cementoma,HPO,phenotype,PHENOTYPE_16032
16033,16033,16033,16033,16033,16033,16033,16033,10594,Abnormality of the proximal fibular epiphysis,HPO,phenotype,PHENOTYPE_16033
16034,16034,16034,16034,16034,16034,16034,16034,4000209,Abnormal erythrocyte adenosine deaminase activity,HPO,phenotype,PHENOTYPE_16034
16035,16035,16035,16035,16035,16035,16035,16035,500181,Hypertaurinemia,HPO,phenotype,PHENOTYPE_16035
16036,16036,16036,16036,16036,16036,16036,16036,25362,Renal medullary pyramid hypoplasia,HPO,phenotype,PHENOTYPE_16036
16037,16037,16037,16037,16037,16037,16037,16037,34311,Hypoplastic optic chiasm,HPO,phenotype,PHENOTYPE_16037
16038,16038,16038,16038,16038,16038,16038,16038,9167,Irregular epiphysis of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_16038
16039,16039,16039,16039,16039,16039,16039,16039,6001098,Metaphyseal undermodelling,HPO,phenotype,PHENOTYPE_16039
16040,16040,16040,16040,16040,16040,16040,16040,6001143,Posterior fat pad sign of the elbow,HPO,phenotype,PHENOTYPE_16040
16041,16041,16041,16041,16041,16041,16041,16041,5000036,Anti-TRIM9/TRIM67 antibody,HPO,phenotype,PHENOTYPE_16041
16042,16042,16042,16042,16042,16042,16042,16042,3000071,Abnormality of levator labii superioris,HPO,phenotype,PHENOTYPE_16042
16043,16043,16043,16043,16043,16043,16043,16043,32046,Focal cortical dysplasia,HPO,phenotype,PHENOTYPE_16043
16044,16044,16044,16044,16044,16044,16044,16044,1976,Reduced antithrombin III activity,HPO,phenotype,PHENOTYPE_16044
16045,16045,16045,16045,16045,16045,16045,16045,500264,Increased helper T cell proportion,HPO,phenotype,PHENOTYPE_16045
16046,16046,16046,16046,16046,16046,16046,16046,41197,Fractured proximal epiphysis of first metacarpal bone,HPO,phenotype,PHENOTYPE_16046
16047,16047,16047,16047,16047,16047,16047,16047,6000821,Elevated circulating bile alcohol concentration,HPO,phenotype,PHENOTYPE_16047
16048,16048,16048,16048,16048,16048,16048,16048,4822,Atypical elliptocytosis,HPO,phenotype,PHENOTYPE_16048
16049,16049,16049,16049,16049,16049,16049,16049,5446,Obtuse angle of mandible,HPO,phenotype,PHENOTYPE_16049
16050,16050,16050,16050,16050,16050,16050,16050,700,Periapical bone loss,HPO,phenotype,PHENOTYPE_16050
16051,16051,16051,16051,16051,16051,16051,16051,3000044,Abnormality of frontal process of maxilla,HPO,phenotype,PHENOTYPE_16051
16052,16052,16052,16052,16052,16052,16052,16052,3000074,Abnormal lingual artery morphology,HPO,phenotype,PHENOTYPE_16052
16053,16053,16053,16053,16053,16053,16053,16053,67,"Urethral atresia, female",HPO,phenotype,PHENOTYPE_16053
16054,16054,16054,16054,16054,16054,16054,16054,11323,Cleft of chin,HPO,phenotype,PHENOTYPE_16054
16055,16055,16055,16055,16055,16055,16055,16055,100396,Short proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_16055
16056,16056,16056,16056,16056,16056,16056,16056,500228,Decreased CSF serine concentration,HPO,phenotype,PHENOTYPE_16056
16057,16057,16057,16057,16057,16057,16057,16057,4254,Delayed ossification of the trapezium,HPO,phenotype,PHENOTYPE_16057
16058,16058,16058,16058,16058,16058,16058,16058,31134,Cor triatriatum sinister,HPO,phenotype,PHENOTYPE_16058
16059,16059,16059,16059,16059,16059,16059,16059,100229,Irregular epiphysis of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_16059
16060,16060,16060,16060,16060,16060,16060,16060,4195,Osteolytic defects of the phalanges of the 4th finger,HPO,phenotype,PHENOTYPE_16060
16061,16061,16061,16061,16061,16061,16061,16061,8707,Absent scrotum,HPO,phenotype,PHENOTYPE_16061
16062,16062,16062,16062,16062,16062,16062,16062,9534,Triangular epiphysis of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_16062
16063,16063,16063,16063,16063,16063,16063,16063,10212,Flexion contracture of the hallux,HPO,phenotype,PHENOTYPE_16063
16064,16064,16064,16064,16064,16064,16064,16064,7975,Hypometric horizontal saccades,HPO,phenotype,PHENOTYPE_16064
16065,16065,16065,16065,16065,16065,16065,16065,31908,Micrographia,HPO,phenotype,PHENOTYPE_16065
16066,16066,16066,16066,16066,16066,16066,16066,20135,Myofibromatosis,HPO,phenotype,PHENOTYPE_16066
16067,16067,16067,16067,16067,16067,16067,16067,32747,Focal impaired awareness emotional seizure with pleasure,HPO,phenotype,PHENOTYPE_16067
16068,16068,16068,16068,16068,16068,16068,16068,33637,Anti-endomysial antibody positivity,HPO,phenotype,PHENOTYPE_16068
16069,16069,16069,16069,16069,16069,16069,16069,33685,Fiber type grouping,HPO,phenotype,PHENOTYPE_16069
16070,16070,16070,16070,16070,16070,16070,16070,10195,Broad middle phalanges of the toes,HPO,phenotype,PHENOTYPE_16070
16071,16071,16071,16071,16071,16071,16071,16071,33172,Increased triceps skinfold thickness,HPO,phenotype,PHENOTYPE_16071
16072,16072,16072,16072,16072,16072,16072,16072,151,Aplasia of the uterus,HPO,phenotype,PHENOTYPE_16072
16073,16073,16073,16073,16073,16073,16073,16073,8240,Secondary growth hormone deficiency,HPO,phenotype,PHENOTYPE_16073
16074,16074,16074,16074,16074,16074,16074,16074,4307,Abnormal anatomic location of the heart,HPO,phenotype,PHENOTYPE_16074
16075,16075,16075,16075,16075,16075,16075,16075,34896,History of recent anticoagulant ingestion,HPO,phenotype,PHENOTYPE_16075
16076,16076,16076,16076,16076,16076,16076,16076,4000043,Greenstick fracture,HPO,phenotype,PHENOTYPE_16076
16077,16077,16077,16077,16077,16077,16077,16077,6906,Congenital intracerebral calcification,HPO,phenotype,PHENOTYPE_16077
16078,16078,16078,16078,16078,16078,16078,16078,7572,Hyperpigmented streaks,HPO,phenotype,PHENOTYPE_16078
16079,16079,16079,16079,16079,16079,16079,16079,6000552,Positive CSF JC-virus nucleic acid test,HPO,phenotype,PHENOTYPE_16079
16080,16080,16080,16080,16080,16080,16080,16080,25548,Increased mean corpuscular hemoglobin concentration,HPO,phenotype,PHENOTYPE_16080
16081,16081,16081,16081,16081,16081,16081,16081,12362,Abnormal sialylation of O-linked protein glycosylation,HPO,phenotype,PHENOTYPE_16081
16082,16082,16082,16082,16082,16082,16082,16082,500136,Hypothreoninemia,HPO,phenotype,PHENOTYPE_16082
16083,16083,16083,16083,16083,16083,16083,16083,500111,Positive urine benzodiazepines test,HPO,phenotype,PHENOTYPE_16083
16084,16084,16084,16084,16084,16084,16084,16084,8940,Generalized lymphadenopathy,HPO,phenotype,PHENOTYPE_16084
16085,16085,16085,16085,16085,16085,16085,16085,919,Abnormality of the costochondral junction,HPO,phenotype,PHENOTYPE_16085
16086,16086,16086,16086,16086,16086,16086,16086,10959,Congenital pulmonary airway malformation,HPO,phenotype,PHENOTYPE_16086
16087,16087,16087,16087,16087,16087,16087,16087,33913,Cortical radial artery medial/intimal arteriitis,HPO,phenotype,PHENOTYPE_16087
16088,16088,16088,16088,16088,16088,16088,16088,41195,Fractured epiphysis of third metatarsal bone,HPO,phenotype,PHENOTYPE_16088
16089,16089,16089,16089,16089,16089,16089,16089,410322,Bacteria allergy,HPO,phenotype,PHENOTYPE_16089
16090,16090,16090,16090,16090,16090,16090,16090,100444,Curved middle phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_16090
16091,16091,16091,16091,16091,16091,16091,16091,1653,Mitral regurgitation,HPO,phenotype,PHENOTYPE_16091
16092,16092,16092,16092,16092,16092,16092,16092,933,Posterior fossa cyst at the fourth ventricle,HPO,phenotype,PHENOTYPE_16092
16093,16093,16093,16093,16093,16093,16093,16093,6690,Myocardial calcification,HPO,phenotype,PHENOTYPE_16093
16094,16094,16094,16094,16094,16094,16094,16094,31204,Bacterial cell casts,HPO,phenotype,PHENOTYPE_16094
16095,16095,16095,16095,16095,16095,16095,16095,1029,Poikiloderma,HPO,phenotype,PHENOTYPE_16095
16096,16096,16096,16096,16096,16096,16096,16096,34964,Wide cavum septum pellucidum,HPO,phenotype,PHENOTYPE_16096
16097,16097,16097,16097,16097,16097,16097,16097,100110,Triangular epiphysis of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_16097
16098,16098,16098,16098,16098,16098,16098,16098,100694,Tibial torsion,HPO,phenotype,PHENOTYPE_16098
16099,16099,16099,16099,16099,16099,16099,16099,9236,Rhomboid or triangular shaped 5th finger proximal phalanx,HPO,phenotype,PHENOTYPE_16099
16100,16100,16100,16100,16100,16100,16100,16100,10141,Enlarged epiphysis of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_16100
16101,16101,16101,16101,16101,16101,16101,16101,30090,Abnormal muscle fiber merosin expression,HPO,phenotype,PHENOTYPE_16101
16102,16102,16102,16102,16102,16102,16102,16102,11468,Facial tics,HPO,phenotype,PHENOTYPE_16102
16103,16103,16103,16103,16103,16103,16103,16103,12337,Abnormal homeostasis,HPO,phenotype,PHENOTYPE_16103
16104,16104,16104,16104,16104,16104,16104,16104,34606,Elevated circulating porphyrin concentration,HPO,phenotype,PHENOTYPE_16104
16105,16105,16105,16105,16105,16105,16105,16105,12110,Hypoplasia of the pons,HPO,phenotype,PHENOTYPE_16105
16106,16106,16106,16106,16106,16106,16106,16106,12132,Erythroid hyperplasia,HPO,phenotype,PHENOTYPE_16106
16107,16107,16107,16107,16107,16107,16107,16107,32147,Erythromelalgia,HPO,phenotype,PHENOTYPE_16107
16108,16108,16108,16108,16108,16108,16108,16108,2797,Osteolysis,HPO,phenotype,PHENOTYPE_16108
16109,16109,16109,16109,16109,16109,16109,16109,3712,Skeletal muscle hypertrophy,HPO,phenotype,PHENOTYPE_16109
16110,16110,16110,16110,16110,16110,16110,16110,34124,Anti-GD1b antibody positivity,HPO,phenotype,PHENOTYPE_16110
16111,16111,16111,16111,16111,16111,16111,16111,7277,Paucity of anterior horn motor neurons,HPO,phenotype,PHENOTYPE_16111
16112,16112,16112,16112,16112,16112,16112,16112,6000878,Anti-potassium channel tetramerization domain containing 16 antibody positivity,HPO,phenotype,PHENOTYPE_16112
16113,16113,16113,16113,16113,16113,16113,16113,6915,Inability to walk by childhood/adolescence,HPO,phenotype,PHENOTYPE_16113
16114,16114,16114,16114,16114,16114,16114,16114,8722,Urethral diverticulum,HPO,phenotype,PHENOTYPE_16114
16115,16115,16115,16115,16115,16115,16115,16115,805,Enuresis,HPO,phenotype,PHENOTYPE_16115
16116,16116,16116,16116,16116,16116,16116,16116,11316,Left unicoronal synostosis,HPO,phenotype,PHENOTYPE_16116
16117,16117,16117,16117,16117,16117,16117,16117,2927,Histidinuria,HPO,phenotype,PHENOTYPE_16117
16118,16118,16118,16118,16118,16118,16118,16118,30659,Velamentous cord insertion,HPO,phenotype,PHENOTYPE_16118
16119,16119,16119,16119,16119,16119,16119,16119,11511,Macular schisis,HPO,phenotype,PHENOTYPE_16119
16120,16120,16120,16120,16120,16120,16120,16120,11773,Uninodular goiter,HPO,phenotype,PHENOTYPE_16120
16121,16121,16121,16121,16121,16121,16121,16121,31333,Myocardial sarcomeric disarray,HPO,phenotype,PHENOTYPE_16121
16122,16122,16122,16122,16122,16122,16122,16122,41070,Chronic partially decreased circulating IgG1,HPO,phenotype,PHENOTYPE_16122
16123,16123,16123,16123,16123,16123,16123,16123,5000034,Anti-Tr/DNER antibody,HPO,phenotype,PHENOTYPE_16123
16124,16124,16124,16124,16124,16124,16124,16124,4007,Sclerotic radial epiphyses,HPO,phenotype,PHENOTYPE_16124
16125,16125,16125,16125,16125,16125,16125,16125,3001,Glomus jugular tumor,HPO,phenotype,PHENOTYPE_16125
16126,16126,16126,16126,16126,16126,16126,16126,9742,Stiff shoulders,HPO,phenotype,PHENOTYPE_16126
16127,16127,16127,16127,16127,16127,16127,16127,32130,Mycobacterium abscessus abscessus infection,HPO,phenotype,PHENOTYPE_16127
16128,16128,16128,16128,16128,16128,16128,16128,6000826,"Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts",HPO,phenotype,PHENOTYPE_16128
16129,16129,16129,16129,16129,16129,16129,16129,12880,Abnormal labia minora morphology,HPO,phenotype,PHENOTYPE_16129
16130,16130,16130,16130,16130,16130,16130,16130,1301,Chronic sensorineural polyneuropathy,HPO,phenotype,PHENOTYPE_16130
16131,16131,16131,16131,16131,16131,16131,16131,32069,Anti-thyroglobulin antibody positivity,HPO,phenotype,PHENOTYPE_16131
16132,16132,16132,16132,16132,16132,16132,16132,3795,Short middle phalanx of toe,HPO,phenotype,PHENOTYPE_16132
16133,16133,16133,16133,16133,16133,16133,16133,32395,Curvilinear subcortical heterotopia,HPO,phenotype,PHENOTYPE_16133
16134,16134,16134,16134,16134,16134,16134,16134,40189,Scaling skin,HPO,phenotype,PHENOTYPE_16134
16135,16135,16135,16135,16135,16135,16135,16135,31708,Compensatory face turn to the left,HPO,phenotype,PHENOTYPE_16135
16136,16136,16136,16136,16136,16136,16136,16136,5335,Sleepy facial expression,HPO,phenotype,PHENOTYPE_16136
16137,16137,16137,16137,16137,16137,16137,16137,33802,Intra-epidermal blistering,HPO,phenotype,PHENOTYPE_16137
16138,16138,16138,16138,16138,16138,16138,16138,4000182,Positionally dependent pain,HPO,phenotype,PHENOTYPE_16138
16139,16139,16139,16139,16139,16139,16139,16139,11527,Lentiglobus,HPO,phenotype,PHENOTYPE_16139
16140,16140,16140,16140,16140,16140,16140,16140,6000911,Reduced tissue neuraminidase activity,HPO,phenotype,PHENOTYPE_16140
16141,16141,16141,16141,16141,16141,16141,16141,40043,Hypoplasia of the eccrine sweat glands,HPO,phenotype,PHENOTYPE_16141
16142,16142,16142,16142,16142,16142,16142,16142,100351,Contractures of the proximal interphalangeal joint of the 5th toe,HPO,phenotype,PHENOTYPE_16142
16143,16143,16143,16143,16143,16143,16143,16143,10492,Osseous finger syndactyly,HPO,phenotype,PHENOTYPE_16143
16144,16144,16144,16144,16144,16144,16144,16144,500028,Cotton wool plaques,HPO,phenotype,PHENOTYPE_16144
16145,16145,16145,16145,16145,16145,16145,16145,11940,Anterior wedging of T12,HPO,phenotype,PHENOTYPE_16145
16146,16146,16146,16146,16146,16146,16146,16146,12606,Renal sodium wasting,HPO,phenotype,PHENOTYPE_16146
16147,16147,16147,16147,16147,16147,16147,16147,12746,Thin toenail,HPO,phenotype,PHENOTYPE_16147
16148,16148,16148,16148,16148,16148,16148,16148,12598,Abnormal urine potassium concentration,HPO,phenotype,PHENOTYPE_16148
16149,16149,16149,16149,16149,16149,16149,16149,30536,Unaided visual acuity 0.1 LogMAR,HPO,phenotype,PHENOTYPE_16149
16150,16150,16150,16150,16150,16150,16150,16150,8703,Gonadal calcification,HPO,phenotype,PHENOTYPE_16150
16151,16151,16151,16151,16151,16151,16151,16151,1706,Endocardial fibroelastosis,HPO,phenotype,PHENOTYPE_16151
16152,16152,16152,16152,16152,16152,16152,16152,5537,Decreased mean platelet volume,HPO,phenotype,PHENOTYPE_16152
16153,16153,16153,16153,16153,16153,16153,16153,32942,Avoidance of stimuli associated with traumatic event,HPO,phenotype,PHENOTYPE_16153
16154,16154,16154,16154,16154,16154,16154,16154,5620,Hypermobility of interphalangeal joints,HPO,phenotype,PHENOTYPE_16154
16155,16155,16155,16155,16155,16155,16155,16155,34096,Anti-phosphatidic acid antibody positivity,HPO,phenotype,PHENOTYPE_16155
16156,16156,16156,16156,16156,16156,16156,16156,4850,Recurrent deep vein thrombosis,HPO,phenotype,PHENOTYPE_16156
16157,16157,16157,16157,16157,16157,16157,16157,6723,Intestinal carcinoid,HPO,phenotype,PHENOTYPE_16157
16158,16158,16158,16158,16158,16158,16158,16158,100283,EMG: continuous motor unit activity at rest,HPO,phenotype,PHENOTYPE_16158
16159,16159,16159,16159,16159,16159,16159,16159,6000377,Intramural intestinal gas,HPO,phenotype,PHENOTYPE_16159
16160,16160,16160,16160,16160,16160,16160,16160,6000767,CSF treponemal antibody positivity,HPO,phenotype,PHENOTYPE_16160
16161,16161,16161,16161,16161,16161,16161,16161,1053,Hypopigmented skin patches,HPO,phenotype,PHENOTYPE_16161
16162,16162,16162,16162,16162,16162,16162,16162,4053,Dysharmonic maturation of the hand bones,HPO,phenotype,PHENOTYPE_16162
16163,16163,16163,16163,16163,16163,16163,16163,33831,Cavitating pulmonary mass,HPO,phenotype,PHENOTYPE_16163
16164,16164,16164,16164,16164,16164,16164,16164,20229,Abnormal lymph-node biospecimen,HPO,phenotype,PHENOTYPE_16164
16165,16165,16165,16165,16165,16165,16165,16165,2548,Parkinsonism with favorable response to dopaminergic medication,HPO,phenotype,PHENOTYPE_16165
16166,16166,16166,16166,16166,16166,16166,16166,7633,Bilateral microphthalmos,HPO,phenotype,PHENOTYPE_16166
16167,16167,16167,16167,16167,16167,16167,16167,500205,Abnormal CSF aspartate family amino acid concentration,HPO,phenotype,PHENOTYPE_16167
16168,16168,16168,16168,16168,16168,16168,16168,33555,Anti-Ro/SS-A antibody positivity,HPO,phenotype,PHENOTYPE_16168
16169,16169,16169,16169,16169,16169,16169,16169,32242,Cervical intraepithelial neoplasia,HPO,phenotype,PHENOTYPE_16169
16170,16170,16170,16170,16170,16170,16170,16170,9974,Partial duplication of the phalanges of the 4th finger,HPO,phenotype,PHENOTYPE_16170
16171,16171,16171,16171,16171,16171,16171,16171,8275,Abnormal light-adapted electroretinogram,HPO,phenotype,PHENOTYPE_16171
16172,16172,16172,16172,16172,16172,16172,16172,40222,Maternal thrombophilia,HPO,phenotype,PHENOTYPE_16172
16173,16173,16173,16173,16173,16173,16173,16173,30112,Abnormal muscle fiber alpha dystroglycan,HPO,phenotype,PHENOTYPE_16173
16174,16174,16174,16174,16174,16174,16174,16174,10389,Symphalangism affecting the phalanges of the 5th toe,HPO,phenotype,PHENOTYPE_16174
16175,16175,16175,16175,16175,16175,16175,16175,2617,Vascular dilatation,HPO,phenotype,PHENOTYPE_16175
16176,16176,16176,16176,16176,16176,16176,16176,33098,Increased urinary non-proteinogenic amino acid level,HPO,phenotype,PHENOTYPE_16176
16177,16177,16177,16177,16177,16177,16177,16177,6000479,Elevated urine N-acetyltyrosine level,HPO,phenotype,PHENOTYPE_16177
16178,16178,16178,16178,16178,16178,16178,16178,6489,Abnormal femoral metaphysis morphology,HPO,phenotype,PHENOTYPE_16178
16179,16179,16179,16179,16179,16179,16179,16179,4912,Hypophosphatemic rickets,HPO,phenotype,PHENOTYPE_16179
16180,16180,16180,16180,16180,16180,16180,16180,31279,Abnormal response to gonadotropin-releasing hormone stimulation test,HPO,phenotype,PHENOTYPE_16180
16181,16181,16181,16181,16181,16181,16181,16181,31564,Bronchial isomerism,HPO,phenotype,PHENOTYPE_16181
16182,16182,16182,16182,16182,16182,16182,16182,4379,Abnormality of alkaline phosphatase level,HPO,phenotype,PHENOTYPE_16182
16183,16183,16183,16183,16183,16183,16183,16183,9234,Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal,HPO,phenotype,PHENOTYPE_16183
16184,16184,16184,16184,16184,16184,16184,16184,33127,Abnormality of the musculoskeletal system,HPO,phenotype,PHENOTYPE_16184
16185,16185,16185,16185,16185,16185,16185,16185,11286,Total colonic aganglionosis,HPO,phenotype,PHENOTYPE_16185
16186,16186,16186,16186,16186,16186,16186,16186,789,Infertility,HPO,phenotype,PHENOTYPE_16186
16187,16187,16187,16187,16187,16187,16187,16187,5348,Inspiratory stridor,HPO,phenotype,PHENOTYPE_16187
16188,16188,16188,16188,16188,16188,16188,16188,5425,Recurrent sinopulmonary infections,HPO,phenotype,PHENOTYPE_16188
16189,16189,16189,16189,16189,16189,16189,16189,3765,Psoriasiform dermatitis,HPO,phenotype,PHENOTYPE_16189
16190,16190,16190,16190,16190,16190,16190,16190,30363,Primary Caesarian section,HPO,phenotype,PHENOTYPE_16190
16191,16191,16191,16191,16191,16191,16191,16191,40204,Elevated CSF neopterin level,HPO,phenotype,PHENOTYPE_16191
16192,16192,16192,16192,16192,16192,16192,16192,12392,Jaw hyporeflexia,HPO,phenotype,PHENOTYPE_16192
16193,16193,16193,16193,16193,16193,16193,16193,7777,Chorioretinal scar,HPO,phenotype,PHENOTYPE_16193
16194,16194,16194,16194,16194,16194,16194,16194,200116,Distal ileal atresia,HPO,phenotype,PHENOTYPE_16194
16195,16195,16195,16195,16195,16195,16195,16195,538,Pseudopapilledema,HPO,phenotype,PHENOTYPE_16195
16196,16196,16196,16196,16196,16196,16196,16196,32559,Short sperm flagella,HPO,phenotype,PHENOTYPE_16196
16197,16197,16197,16197,16197,16197,16197,16197,8305,Exercise-induced myoglobinuria,HPO,phenotype,PHENOTYPE_16197
16198,16198,16198,16198,16198,16198,16198,16198,3326,Myalgia,HPO,phenotype,PHENOTYPE_16198
16199,16199,16199,16199,16199,16199,16199,16199,31692,Severe cytomegalovirus infection,HPO,phenotype,PHENOTYPE_16199
16200,16200,16200,16200,16200,16200,16200,16200,20201,Abnormal sarcomere morphology,HPO,phenotype,PHENOTYPE_16200
16201,16201,16201,16201,16201,16201,16201,16201,12027,Laryngeal edema,HPO,phenotype,PHENOTYPE_16201
16202,16202,16202,16202,16202,16202,16202,16202,705,Amelogenesis imperfecta,HPO,phenotype,PHENOTYPE_16202
16203,16203,16203,16203,16203,16203,16203,16203,32141,Precordial pain,HPO,phenotype,PHENOTYPE_16203
16204,16204,16204,16204,16204,16204,16204,16204,32699,Focal cognitive seizure with dysgraphia/agraphia,HPO,phenotype,PHENOTYPE_16204
16205,16205,16205,16205,16205,16205,16205,16205,25363,Glomerular endocapillary hypercellularity,HPO,phenotype,PHENOTYPE_16205
16206,16206,16206,16206,16206,16206,16206,16206,34069,Anti-parotid secretory protein antibody positivity,HPO,phenotype,PHENOTYPE_16206
16207,16207,16207,16207,16207,16207,16207,16207,32629,Intratubular dihydroxyadenuria crystals,HPO,phenotype,PHENOTYPE_16207
16208,16208,16208,16208,16208,16208,16208,16208,100472,Symphalangism affecting the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_16208
16209,16209,16209,16209,16209,16209,16209,16209,625,Eyelid coloboma,HPO,phenotype,PHENOTYPE_16209
16210,16210,16210,16210,16210,16210,16210,16210,776,Congenital diaphragmatic hernia,HPO,phenotype,PHENOTYPE_16210
16211,16211,16211,16211,16211,16211,16211,16211,40293,Right hemiplegia,HPO,phenotype,PHENOTYPE_16211
16212,16212,16212,16212,16212,16212,16212,16212,5547,Myeloproliferative disorder,HPO,phenotype,PHENOTYPE_16212
16213,16213,16213,16213,16213,16213,16213,16213,3956,Bowed forearm bones,HPO,phenotype,PHENOTYPE_16213
16214,16214,16214,16214,16214,16214,16214,16214,12548,Fatty replacement of skeletal muscle,HPO,phenotype,PHENOTYPE_16214
16215,16215,16215,16215,16215,16215,16215,16215,10411,Triangular shaped middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_16215
16216,16216,16216,16216,16216,16216,16216,16216,34276,Elevated circulating thymidine concentration,HPO,phenotype,PHENOTYPE_16216
16217,16217,16217,16217,16217,16217,16217,16217,6794,Loss of ability to walk in first decade,HPO,phenotype,PHENOTYPE_16217
16218,16218,16218,16218,16218,16218,16218,16218,9569,Broad middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_16218
16219,16219,16219,16219,16219,16219,16219,16219,9835,Aplasia/Hypoplasia of the distal phalanges of the hand,HPO,phenotype,PHENOTYPE_16219
16220,16220,16220,16220,16220,16220,16220,16220,12861,Ovotestis,HPO,phenotype,PHENOTYPE_16220
16221,16221,16221,16221,16221,16221,16221,16221,33875,Abnormal arcuate vein lumen morphology,HPO,phenotype,PHENOTYPE_16221
16222,16222,16222,16222,16222,16222,16222,16222,34070,Anti-enterocyte antibody positivity,HPO,phenotype,PHENOTYPE_16222
16223,16223,16223,16223,16223,16223,16223,16223,7291,Posterior fossa cyst,HPO,phenotype,PHENOTYPE_16223
16224,16224,16224,16224,16224,16224,16224,16224,2406,Limb dysmetria,HPO,phenotype,PHENOTYPE_16224
16225,16225,16225,16225,16225,16225,16225,16225,34452,Rectoureteral fistula,HPO,phenotype,PHENOTYPE_16225
16226,16226,16226,16226,16226,16226,16226,16226,11075,Green teeth,HPO,phenotype,PHENOTYPE_16226
16227,16227,16227,16227,16227,16227,16227,16227,1937,Microangiopathic hemolytic anemia,HPO,phenotype,PHENOTYPE_16227
16228,16228,16228,16228,16228,16228,16228,16228,30502,Retinoschisis,HPO,phenotype,PHENOTYPE_16228
16229,16229,16229,16229,16229,16229,16229,16229,7885,Slowed horizontal saccades,HPO,phenotype,PHENOTYPE_16229
16230,16230,16230,16230,16230,16230,16230,16230,34708,Superior pubic ramus hypoplasia,HPO,phenotype,PHENOTYPE_16230
16231,16231,16231,16231,16231,16231,16231,16231,40300,Abnormal circulating free fatty acid concentration,HPO,phenotype,PHENOTYPE_16231
16232,16232,16232,16232,16232,16232,16232,16232,11755,Ectopic posterior pituitary,HPO,phenotype,PHENOTYPE_16232
16233,16233,16233,16233,16233,16233,16233,16233,4000015,Anti-envoplakin antibody positivity,HPO,phenotype,PHENOTYPE_16233
16234,16234,16234,16234,16234,16234,16234,16234,34238,Closed neural tube defect,HPO,phenotype,PHENOTYPE_16234
16235,16235,16235,16235,16235,16235,16235,16235,3474,Somatic sensory dysfunction,HPO,phenotype,PHENOTYPE_16235
16236,16236,16236,16236,16236,16236,16236,16236,25525,Scaling skin on fingertip,HPO,phenotype,PHENOTYPE_16236
16237,16237,16237,16237,16237,16237,16237,16237,32159,Fungal meningitis,HPO,phenotype,PHENOTYPE_16237
16238,16238,16238,16238,16238,16238,16238,16238,11558,Double inlet to single ventricle with common atrioventricular orifice,HPO,phenotype,PHENOTYPE_16238
16239,16239,16239,16239,16239,16239,16239,16239,34161,Reduced circulating interleukin 9 concentration,HPO,phenotype,PHENOTYPE_16239
16240,16240,16240,16240,16240,16240,16240,16240,2644,Abnormal pelvic girdle bone morphology,HPO,phenotype,PHENOTYPE_16240
16241,16241,16241,16241,16241,16241,16241,16241,8909,Lethal short-limbed short stature,HPO,phenotype,PHENOTYPE_16241
16242,16242,16242,16242,16242,16242,16242,16242,6000254,Abnormal proximal convoluted tubule morphology,HPO,phenotype,PHENOTYPE_16242
16243,16243,16243,16243,16243,16243,16243,16243,10968,Abnormality of liposaccharide metabolism,HPO,phenotype,PHENOTYPE_16243
16244,16244,16244,16244,16244,16244,16244,16244,269,Prominent occiput,HPO,phenotype,PHENOTYPE_16244
16245,16245,16245,16245,16245,16245,16245,16245,30967,Abnormal pulmonary artery physiology,HPO,phenotype,PHENOTYPE_16245
16246,16246,16246,16246,16246,16246,16246,16246,11350,Mild receptive language delay,HPO,phenotype,PHENOTYPE_16246
16247,16247,16247,16247,16247,16247,16247,16247,11962,Obstructive azoospermia,HPO,phenotype,PHENOTYPE_16247
16248,16248,16248,16248,16248,16248,16248,16248,4287,Pointed hand bones,HPO,phenotype,PHENOTYPE_16248
16249,16249,16249,16249,16249,16249,16249,16249,3498,Disproportionate short stature,HPO,phenotype,PHENOTYPE_16249
16250,16250,16250,16250,16250,16250,16250,16250,2816,Genu recurvatum,HPO,phenotype,PHENOTYPE_16250
16251,16251,16251,16251,16251,16251,16251,16251,5520,Chronic disseminated intravascular coagulation,HPO,phenotype,PHENOTYPE_16251
16252,16252,16252,16252,16252,16252,16252,16252,31100,Decreased circulating inhibin B concentration,HPO,phenotype,PHENOTYPE_16252
16253,16253,16253,16253,16253,16253,16253,16253,500260,Triggered by head trauma,HPO,phenotype,PHENOTYPE_16253
16254,16254,16254,16254,16254,16254,16254,16254,12245,Sex reversal,HPO,phenotype,PHENOTYPE_16254
16255,16255,16255,16255,16255,16255,16255,16255,4000085,Reduced object sharing,HPO,phenotype,PHENOTYPE_16255
16256,16256,16256,16256,16256,16256,16256,16256,410280,Pediatric onset,HPO,phenotype,PHENOTYPE_16256
16257,16257,16257,16257,16257,16257,16257,16257,3261,Increased circulating IgA concentration,HPO,phenotype,PHENOTYPE_16257
16258,16258,16258,16258,16258,16258,16258,16258,6000812,Thickened cortex of the ulna,HPO,phenotype,PHENOTYPE_16258
16259,16259,16259,16259,16259,16259,16259,16259,9654,Osteolytic defect of thumb phalanx,HPO,phenotype,PHENOTYPE_16259
16260,16260,16260,16260,16260,16260,16260,16260,6000890,Proximal radioulnar joint dislocation,HPO,phenotype,PHENOTYPE_16260
16261,16261,16261,16261,16261,16261,16261,16261,1397,Hepatic steatosis,HPO,phenotype,PHENOTYPE_16261
16262,16262,16262,16262,16262,16262,16262,16262,9849,Symphalangism of middle phalanx of finger,HPO,phenotype,PHENOTYPE_16262
16263,16263,16263,16263,16263,16263,16263,16263,12884,Fallopian tube torsion,HPO,phenotype,PHENOTYPE_16263
16264,16264,16264,16264,16264,16264,16264,16264,31079,Impaired growth-hormone response to insulin stimulation test,HPO,phenotype,PHENOTYPE_16264
16265,16265,16265,16265,16265,16265,16265,16265,4050,Absent hand,HPO,phenotype,PHENOTYPE_16265
16266,16266,16266,16266,16266,16266,16266,16266,9686,Absent epiphyses of the thumb,HPO,phenotype,PHENOTYPE_16266
16267,16267,16267,16267,16267,16267,16267,16267,30088,Increased serum testosterone level,HPO,phenotype,PHENOTYPE_16267
16268,16268,16268,16268,16268,16268,16268,16268,632,Lacrimation abnormality,HPO,phenotype,PHENOTYPE_16268
16269,16269,16269,16269,16269,16269,16269,16269,100916,Sclerosis of middle finger phalanx,HPO,phenotype,PHENOTYPE_16269
16270,16270,16270,16270,16270,16270,16270,16270,5586,Hyperpigmentation in sun-exposed areas,HPO,phenotype,PHENOTYPE_16270
16271,16271,16271,16271,16271,16271,16271,16271,5790,Short mandibular condyles,HPO,phenotype,PHENOTYPE_16271
16272,16272,16272,16272,16272,16272,16272,16272,100449,Curved distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_16272
16273,16273,16273,16273,16273,16273,16273,16273,25301,Nocturnal,HPO,phenotype,PHENOTYPE_16273
16274,16274,16274,16274,16274,16274,16274,16274,5000032,Anti-SEZ6L2 antibody,HPO,phenotype,PHENOTYPE_16274
16275,16275,16275,16275,16275,16275,16275,16275,2404,Thickened superior cerebellar peduncle,HPO,phenotype,PHENOTYPE_16275
16276,16276,16276,16276,16276,16276,16276,16276,9809,Abnormal upper limb metaphysis morphology,HPO,phenotype,PHENOTYPE_16276
16277,16277,16277,16277,16277,16277,16277,16277,46502,Anorgasmia,HPO,phenotype,PHENOTYPE_16277
16278,16278,16278,16278,16278,16278,16278,16278,32462,Increased circulating palmitate level,HPO,phenotype,PHENOTYPE_16278
16279,16279,16279,16279,16279,16279,16279,16279,7115,Naso-orbital encephalocele,HPO,phenotype,PHENOTYPE_16279
16280,16280,16280,16280,16280,16280,16280,16280,5200066,Vestibular sensory seeking,HPO,phenotype,PHENOTYPE_16280
16281,16281,16281,16281,16281,16281,16281,16281,25391,Crazy paving pattern,HPO,phenotype,PHENOTYPE_16281
16282,16282,16282,16282,16282,16282,16282,16282,6000330,Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine,HPO,phenotype,PHENOTYPE_16282
16283,16283,16283,16283,16283,16283,16283,16283,6000803,"Elevated urinary 2,8-dihydroxyadenine level",HPO,phenotype,PHENOTYPE_16283
16284,16284,16284,16284,16284,16284,16284,16284,430126,Abnormal circulating plasminogen activator inhibitor 1 activity,HPO,phenotype,PHENOTYPE_16284
16285,16285,16285,16285,16285,16285,16285,16285,200138,Bilateral choanal atresia/stenosis,HPO,phenotype,PHENOTYPE_16285
16286,16286,16286,16286,16286,16286,16286,16286,410346,Increased urinary galactosylated oligosaccharide,HPO,phenotype,PHENOTYPE_16286
16287,16287,16287,16287,16287,16287,16287,16287,30289,Flattened femoral epiphysis,HPO,phenotype,PHENOTYPE_16287
16288,16288,16288,16288,16288,16288,16288,16288,215,Thick upper lip vermilion,HPO,phenotype,PHENOTYPE_16288
16289,16289,16289,16289,16289,16289,16289,16289,11822,Broad chin,HPO,phenotype,PHENOTYPE_16289
16290,16290,16290,16290,16290,16290,16290,16290,30164,Jaw claudication,HPO,phenotype,PHENOTYPE_16290
16291,16291,16291,16291,16291,16291,16291,16291,25788,Radiographic modifier,HPO,phenotype,PHENOTYPE_16291
16292,16292,16292,16292,16292,16292,16292,16292,3875,Humeral lytic defects,HPO,phenotype,PHENOTYPE_16292
16293,16293,16293,16293,16293,16293,16293,16293,11118,Abnormality of tumor necrosis factor secretion,HPO,phenotype,PHENOTYPE_16293
16294,16294,16294,16294,16294,16294,16294,16294,31075,Abnormal response to insulin tolerance test,HPO,phenotype,PHENOTYPE_16294
16295,16295,16295,16295,16295,16295,16295,16295,33800,Blistering by anatomical location,HPO,phenotype,PHENOTYPE_16295
16296,16296,16296,16296,16296,16296,16296,16296,500227,Increased CSF serine concentration,HPO,phenotype,PHENOTYPE_16296
16297,16297,16297,16297,16297,16297,16297,16297,9926,Epiphora,HPO,phenotype,PHENOTYPE_16297
16298,16298,16298,16298,16298,16298,16298,16298,7717,Chronic irritative conjunctivitis,HPO,phenotype,PHENOTYPE_16298
16299,16299,16299,16299,16299,16299,16299,16299,6596,Restricted chest movement,HPO,phenotype,PHENOTYPE_16299
16300,16300,16300,16300,16300,16300,16300,16300,1592,Selective tooth agenesis,HPO,phenotype,PHENOTYPE_16300
16301,16301,16301,16301,16301,16301,16301,16301,4000074,Involuntary vocalization,HPO,phenotype,PHENOTYPE_16301
16302,16302,16302,16302,16302,16302,16302,16302,410145,Decreased circulating biotinidase concentration,HPO,phenotype,PHENOTYPE_16302
16303,16303,16303,16303,16303,16303,16303,16303,11789,Impaired sensitivity to thyroid stimulating hormone,HPO,phenotype,PHENOTYPE_16303
16304,16304,16304,16304,16304,16304,16304,16304,1929,Reduced factor XI activity,HPO,phenotype,PHENOTYPE_16304
16305,16305,16305,16305,16305,16305,16305,16305,32350,Sulfocysteinuria,HPO,phenotype,PHENOTYPE_16305
16306,16306,16306,16306,16306,16306,16306,16306,12372,Abnormal eye morphology,HPO,phenotype,PHENOTYPE_16306
16307,16307,16307,16307,16307,16307,16307,16307,12118,Laryngeal carcinoma,HPO,phenotype,PHENOTYPE_16307
16308,16308,16308,16308,16308,16308,16308,16308,8955,Progressive distal muscular atrophy,HPO,phenotype,PHENOTYPE_16308
16309,16309,16309,16309,16309,16309,16309,16309,410317,Increased urinary 3-methylhistidine,HPO,phenotype,PHENOTYPE_16309
16310,16310,16310,16310,16310,16310,16310,16310,7766,Optic disc hypoplasia,HPO,phenotype,PHENOTYPE_16310
16311,16311,16311,16311,16311,16311,16311,16311,30338,Abnormal circulating gonadotropin concentration,HPO,phenotype,PHENOTYPE_16311
16312,16312,16312,16312,16312,16312,16312,16312,6000478,"Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration",HPO,phenotype,PHENOTYPE_16312
16313,16313,16313,16313,16313,16313,16313,16313,5900,Fifth metacarpal with ulnar notch,HPO,phenotype,PHENOTYPE_16313
16314,16314,16314,16314,16314,16314,16314,16314,4467,Preauricular pit,HPO,phenotype,PHENOTYPE_16314
16315,16315,16315,16315,16315,16315,16315,16315,34560,Malignant rhabdoid tumor of the bladder,HPO,phenotype,PHENOTYPE_16315
16316,16316,16316,16316,16316,16316,16316,16316,500108,Positive urine cocaine test,HPO,phenotype,PHENOTYPE_16316
16317,16317,16317,16317,16317,16317,16317,16317,6000951,Flared proximal tibial metaphysis,HPO,phenotype,PHENOTYPE_16317
16318,16318,16318,16318,16318,16318,16318,16318,5190,Proximal finger joint hyperextensibility,HPO,phenotype,PHENOTYPE_16318
16319,16319,16319,16319,16319,16319,16319,16319,410188,Decreased glucose-6-phosphate dehydrogenase level in red blood cells,HPO,phenotype,PHENOTYPE_16319
16320,16320,16320,16320,16320,16320,16320,16320,100390,Short distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_16320
16321,16321,16321,16321,16321,16321,16321,16321,12437,Abnormal gallbladder morphology,HPO,phenotype,PHENOTYPE_16321
16322,16322,16322,16322,16322,16322,16322,16322,100712,Abnormal lumbar spine morphology,HPO,phenotype,PHENOTYPE_16322
16323,16323,16323,16323,16323,16323,16323,16323,33611,Part-solid pulmonary nodule,HPO,phenotype,PHENOTYPE_16323
16324,16324,16324,16324,16324,16324,16324,16324,30681,Abnormal morphology of myocardial trabeculae,HPO,phenotype,PHENOTYPE_16324
16325,16325,16325,16325,16325,16325,16325,16325,6000182,Absent otoacoustic emissions,HPO,phenotype,PHENOTYPE_16325
16326,16326,16326,16326,16326,16326,16326,16326,6571,Reduced number of intrahepatic bile ducts,HPO,phenotype,PHENOTYPE_16326
16327,16327,16327,16327,16327,16327,16327,16327,11018,Abnormality of the cell cycle,HPO,phenotype,PHENOTYPE_16327
16328,16328,16328,16328,16328,16328,16328,16328,6000891,Absent toe phalanx flexion crease,HPO,phenotype,PHENOTYPE_16328
16329,16329,16329,16329,16329,16329,16329,16329,41231,Fractured metatarsal bone of digit 1,HPO,phenotype,PHENOTYPE_16329
16330,16330,16330,16330,16330,16330,16330,16330,30054,Perifollicular fibrosis,HPO,phenotype,PHENOTYPE_16330
16331,16331,16331,16331,16331,16331,16331,16331,6000490,Impaired heel-walking ability,HPO,phenotype,PHENOTYPE_16331
16332,16332,16332,16332,16332,16332,16332,16332,10197,Curved middle toe phalanx,HPO,phenotype,PHENOTYPE_16332
16333,16333,16333,16333,16333,16333,16333,16333,5147,Bidirectional ventricular ectopy,HPO,phenotype,PHENOTYPE_16333
16334,16334,16334,16334,16334,16334,16334,16334,34044,Trident pelvis,HPO,phenotype,PHENOTYPE_16334
16335,16335,16335,16335,16335,16335,16335,16335,10912,Abnormal circulating isoleucine concentration,HPO,phenotype,PHENOTYPE_16335
16336,16336,16336,16336,16336,16336,16336,16336,6230,Unilateral oligodactyly,HPO,phenotype,PHENOTYPE_16336
16337,16337,16337,16337,16337,16337,16337,16337,8078,Thin metatarsal cortices,HPO,phenotype,PHENOTYPE_16337
16338,16338,16338,16338,16338,16338,16338,16338,33923,Renal arteriole foam cell endoarterial hypercellularity,HPO,phenotype,PHENOTYPE_16338
16339,16339,16339,16339,16339,16339,16339,16339,33960,Cortical radial artery intimal mucoid edema,HPO,phenotype,PHENOTYPE_16339
16340,16340,16340,16340,16340,16340,16340,16340,410133,Chronic idiopathic urticaria,HPO,phenotype,PHENOTYPE_16340
16341,16341,16341,16341,16341,16341,16341,16341,30118,Reduced muscle fiber emerin,HPO,phenotype,PHENOTYPE_16341
16342,16342,16342,16342,16342,16342,16342,16342,33859,Abnormal peritubular capillary morphology,HPO,phenotype,PHENOTYPE_16342
16343,16343,16343,16343,16343,16343,16343,16343,34422,Cryofibrinogenemia,HPO,phenotype,PHENOTYPE_16343
16344,16344,16344,16344,16344,16344,16344,16344,242,Parietal bossing,HPO,phenotype,PHENOTYPE_16344
16345,16345,16345,16345,16345,16345,16345,16345,4000175,Ameliorated by niacin,HPO,phenotype,PHENOTYPE_16345
16346,16346,16346,16346,16346,16346,16346,16346,5213,Pancreatic calcification,HPO,phenotype,PHENOTYPE_16346
16347,16347,16347,16347,16347,16347,16347,16347,6799,Basal ganglia cysts,HPO,phenotype,PHENOTYPE_16347
16348,16348,16348,16348,16348,16348,16348,16348,758,Abnormal nonverbal communicative behavior,HPO,phenotype,PHENOTYPE_16348
16349,16349,16349,16349,16349,16349,16349,16349,1631,Atrial septal defect,HPO,phenotype,PHENOTYPE_16349
16350,16350,16350,16350,16350,16350,16350,16350,608,Macular degeneration,HPO,phenotype,PHENOTYPE_16350
16351,16351,16351,16351,16351,16351,16351,16351,1345,Psychotic mentation,HPO,phenotype,PHENOTYPE_16351
16352,16352,16352,16352,16352,16352,16352,16352,30192,Fatigable weakness of bulbar muscles,HPO,phenotype,PHENOTYPE_16352
16353,16353,16353,16353,16353,16353,16353,16353,30051,Tip-toe gait,HPO,phenotype,PHENOTYPE_16353
16354,16354,16354,16354,16354,16354,16354,16354,100398,Duplication of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_16354
16355,16355,16355,16355,16355,16355,16355,16355,920,Enlargement of the costochondral junction,HPO,phenotype,PHENOTYPE_16355
16356,16356,16356,16356,16356,16356,16356,16356,31039,Spermatocyte maturation arrest,HPO,phenotype,PHENOTYPE_16356
16357,16357,16357,16357,16357,16357,16357,16357,100381,Absent middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_16357
16358,16358,16358,16358,16358,16358,16358,16358,6000961,Positive brain-tissue rabies nucleic acid test,HPO,phenotype,PHENOTYPE_16358
16359,16359,16359,16359,16359,16359,16359,16359,8390,Recurrent loss of toenails and fingernails,HPO,phenotype,PHENOTYPE_16359
16360,16360,16360,16360,16360,16360,16360,16360,8708,Partial development of the penile shaft,HPO,phenotype,PHENOTYPE_16360
16361,16361,16361,16361,16361,16361,16361,16361,9335,Absent epiphysis of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_16361
16362,16362,16362,16362,16362,16362,16362,16362,500040,Dermolipoma of the conjunctiva,HPO,phenotype,PHENOTYPE_16362
16363,16363,16363,16363,16363,16363,16363,16363,8067,Abnormally lax or hyperextensible skin,HPO,phenotype,PHENOTYPE_16363
16364,16364,16364,16364,16364,16364,16364,16364,31654,Abnormal pulmonary valve physiology,HPO,phenotype,PHENOTYPE_16364
16365,16365,16365,16365,16365,16365,16365,16365,32174,Tree-in-bud pattern,HPO,phenotype,PHENOTYPE_16365
16366,16366,16366,16366,16366,16366,16366,16366,9922,Vascular remnant arising from the disk,HPO,phenotype,PHENOTYPE_16366
16367,16367,16367,16367,16367,16367,16367,16367,12208,Immotile sperm,HPO,phenotype,PHENOTYPE_16367
16368,16368,16368,16368,16368,16368,16368,16368,31945,"Elevated circulating N,N-dimethylglycine concentration",HPO,phenotype,PHENOTYPE_16368
16369,16369,16369,16369,16369,16369,16369,16369,11937,Hypoplastic fifth toenail,HPO,phenotype,PHENOTYPE_16369
16370,16370,16370,16370,16370,16370,16370,16370,12849,Small intestinal bleeding,HPO,phenotype,PHENOTYPE_16370
16371,16371,16371,16371,16371,16371,16371,16371,6000102,Breast intraductal papilloma,HPO,phenotype,PHENOTYPE_16371
16372,16372,16372,16372,16372,16372,16372,16372,1269,Hemiparesis,HPO,phenotype,PHENOTYPE_16372
16373,16373,16373,16373,16373,16373,16373,16373,3000053,Abnormal hypopharynx morphology,HPO,phenotype,PHENOTYPE_16373
16374,16374,16374,16374,16374,16374,16374,16374,6346,Screwdriver-shaped incisors,HPO,phenotype,PHENOTYPE_16374
16375,16375,16375,16375,16375,16375,16375,16375,32932,Increased circulating pancreatic triacylglycerol lipase level,HPO,phenotype,PHENOTYPE_16375
16376,16376,16376,16376,16376,16376,16376,16376,12109,Angle closure glaucoma,HPO,phenotype,PHENOTYPE_16376
16377,16377,16377,16377,16377,16377,16377,16377,100193,Cone-shaped epiphysis of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_16377
16378,16378,16378,16378,16378,16378,16378,16378,6781,Hurthle cell thyroid adenoma,HPO,phenotype,PHENOTYPE_16378
16379,16379,16379,16379,16379,16379,16379,16379,3952,Sclerotic foci of metaphyses of the elbow,HPO,phenotype,PHENOTYPE_16379
16380,16380,16380,16380,16380,16380,16380,16380,410363,Increased monosialylated core 1 O-glycan level,HPO,phenotype,PHENOTYPE_16380
16381,16381,16381,16381,16381,16381,16381,16381,11203,EEG with abnormally slow frequencies,HPO,phenotype,PHENOTYPE_16381
16382,16382,16382,16382,16382,16382,16382,16382,430079,Anti-mycoplasma antibody positivity,HPO,phenotype,PHENOTYPE_16382
16383,16383,16383,16383,16383,16383,16383,16383,4535,Anterior cervical hypertrichosis,HPO,phenotype,PHENOTYPE_16383
16384,16384,16384,16384,16384,16384,16384,16384,6000874,Delayed ossification of the clavicle,HPO,phenotype,PHENOTYPE_16384
16385,16385,16385,16385,16385,16385,16385,16385,1482,Subcutaneous nodule,HPO,phenotype,PHENOTYPE_16385
16386,16386,16386,16386,16386,16386,16386,16386,4757,Paroxysmal atrial fibrillation,HPO,phenotype,PHENOTYPE_16386
16387,16387,16387,16387,16387,16387,16387,16387,5856,Ulnar radial head dislocation,HPO,phenotype,PHENOTYPE_16387
16388,16388,16388,16388,16388,16388,16388,16388,34267,Pelvic pain,HPO,phenotype,PHENOTYPE_16388
16389,16389,16389,16389,16389,16389,16389,16389,1305,Dandy-Walker malformation,HPO,phenotype,PHENOTYPE_16389
16390,16390,16390,16390,16390,16390,16390,16390,10740,Osteopathia striata,HPO,phenotype,PHENOTYPE_16390
16391,16391,16391,16391,16391,16391,16391,16391,11352,Severe receptive language delay,HPO,phenotype,PHENOTYPE_16391
16392,16392,16392,16392,16392,16392,16392,16392,6000313,Incomplete right bundle branch block,HPO,phenotype,PHENOTYPE_16392
16393,16393,16393,16393,16393,16393,16393,16393,3160,Abnormal isoelectric focusing of serum transferrin,HPO,phenotype,PHENOTYPE_16393
16394,16394,16394,16394,16394,16394,16394,16394,9997,Duplication of phalanx of hand,HPO,phenotype,PHENOTYPE_16394
16395,16395,16395,16395,16395,16395,16395,16395,12729,Saccular descending thoracic aortic aneurysm,HPO,phenotype,PHENOTYPE_16395
16396,16396,16396,16396,16396,16396,16396,16396,32105,Macrosaccadic oscillations,HPO,phenotype,PHENOTYPE_16396
16397,16397,16397,16397,16397,16397,16397,16397,6486,Abnormal dental root morphology,HPO,phenotype,PHENOTYPE_16397
16398,16398,16398,16398,16398,16398,16398,16398,11906,Reduced beta/alpha synthesis ratio,HPO,phenotype,PHENOTYPE_16398
16399,16399,16399,16399,16399,16399,16399,16399,10603,Odontogenic keratocysts of the jaw,HPO,phenotype,PHENOTYPE_16399
16400,16400,16400,16400,16400,16400,16400,16400,1989,Fetal akinesia sequence,HPO,phenotype,PHENOTYPE_16400
16401,16401,16401,16401,16401,16401,16401,16401,34585,Cochlear nerve hypoplasia,HPO,phenotype,PHENOTYPE_16401
16402,16402,16402,16402,16402,16402,16402,16402,31539,Linear IgA deposits along the epidermal basement membrane zone,HPO,phenotype,PHENOTYPE_16402
16403,16403,16403,16403,16403,16403,16403,16403,9597,Short proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_16403
16404,16404,16404,16404,16404,16404,16404,16404,7335,Recurrent encephalopathy,HPO,phenotype,PHENOTYPE_16404
16405,16405,16405,16405,16405,16405,16405,16405,30693,Supratentorial neoplasm,HPO,phenotype,PHENOTYPE_16405
16406,16406,16406,16406,16406,16406,16406,16406,8211,Parathyroid agenesis,HPO,phenotype,PHENOTYPE_16406
16407,16407,16407,16407,16407,16407,16407,16407,4568,Beaking of vertebral bodies,HPO,phenotype,PHENOTYPE_16407
16408,16408,16408,16408,16408,16408,16408,16408,25659,Decreased circulating creatine kinase concentration,HPO,phenotype,PHENOTYPE_16408
16409,16409,16409,16409,16409,16409,16409,16409,10826,Abnormality of the twelfth cranial nerve,HPO,phenotype,PHENOTYPE_16409
16410,16410,16410,16410,16410,16410,16410,16410,9063,Progressive distal muscle weakness,HPO,phenotype,PHENOTYPE_16410
16411,16411,16411,16411,16411,16411,16411,16411,1433,Hepatosplenomegaly,HPO,phenotype,PHENOTYPE_16411
16412,16412,16412,16412,16412,16412,16412,16412,11230,Laterally extended eyebrow,HPO,phenotype,PHENOTYPE_16412
16413,16413,16413,16413,16413,16413,16413,16413,12010,EEG with frontal focal spike waves,HPO,phenotype,PHENOTYPE_16413
16414,16414,16414,16414,16414,16414,16414,16414,193,Bifid uvula,HPO,phenotype,PHENOTYPE_16414
16415,16415,16415,16415,16415,16415,16415,16415,34098,Anti-phosphatidyl glycerol antibody positivity,HPO,phenotype,PHENOTYPE_16415
16416,16416,16416,16416,16416,16416,16416,16416,34515,Ameloblastoma,HPO,phenotype,PHENOTYPE_16416
16417,16417,16417,16417,16417,16417,16417,16417,40325,Bull's eye rash,HPO,phenotype,PHENOTYPE_16417
16418,16418,16418,16418,16418,16418,16418,16418,100146,Absent epiphysis of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_16418
16419,16419,16419,16419,16419,16419,16419,16419,3559,Muscle hyperirritability,HPO,phenotype,PHENOTYPE_16419
16420,16420,16420,16420,16420,16420,16420,16420,9833,Abnormal middle phalanx morphology of the hand,HPO,phenotype,PHENOTYPE_16420
16421,16421,16421,16421,16421,16421,16421,16421,2453,Abnormal globus pallidus morphology,HPO,phenotype,PHENOTYPE_16421
16422,16422,16422,16422,16422,16422,16422,16422,12536,Maternal anticardiolipin antibody positive,HPO,phenotype,PHENOTYPE_16422
16423,16423,16423,16423,16423,16423,16423,16423,10027,Broad 1st metacarpal,HPO,phenotype,PHENOTYPE_16423
16424,16424,16424,16424,16424,16424,16424,16424,1041,Facial erythema,HPO,phenotype,PHENOTYPE_16424
16425,16425,16425,16425,16425,16425,16425,16425,1739,Abnormal nasopharynx morphology,HPO,phenotype,PHENOTYPE_16425
16426,16426,16426,16426,16426,16426,16426,16426,6000177,Uvular swelling,HPO,phenotype,PHENOTYPE_16426
16427,16427,16427,16427,16427,16427,16427,16427,5164,Dysplastic pulmonary valve,HPO,phenotype,PHENOTYPE_16427
16428,16428,16428,16428,16428,16428,16428,16428,10591,Abnormality of the proximal tibial epiphysis,HPO,phenotype,PHENOTYPE_16428
16429,16429,16429,16429,16429,16429,16429,16429,30905,Snout reflex,HPO,phenotype,PHENOTYPE_16429
16430,16430,16430,16430,16430,16430,16430,16430,10978,Abnormality of immune system physiology,HPO,phenotype,PHENOTYPE_16430
16431,16431,16431,16431,16431,16431,16431,16431,2025,Anal stenosis,HPO,phenotype,PHENOTYPE_16431
16432,16432,16432,16432,16432,16432,16432,16432,12742,Thin fingernail,HPO,phenotype,PHENOTYPE_16432
16433,16433,16433,16433,16433,16433,16433,16433,430107,Sputum infectious agent,HPO,phenotype,PHENOTYPE_16433
16434,16434,16434,16434,16434,16434,16434,16434,6575,Intrahepatic cholestasis with episodic jaundice,HPO,phenotype,PHENOTYPE_16434
16435,16435,16435,16435,16435,16435,16435,16435,25744,Elevated urine dodecanedioic acid level,HPO,phenotype,PHENOTYPE_16435
16436,16436,16436,16436,16436,16436,16436,16436,5600,Congenital giant melanocytic nevus,HPO,phenotype,PHENOTYPE_16436
16437,16437,16437,16437,16437,16437,16437,16437,7209,Facial paralysis,HPO,phenotype,PHENOTYPE_16437
16438,16438,16438,16438,16438,16438,16438,16438,4469,Chronic bronchitis,HPO,phenotype,PHENOTYPE_16438
16439,16439,16439,16439,16439,16439,16439,16439,5715,Flattened knee epiphyses,HPO,phenotype,PHENOTYPE_16439
16440,16440,16440,16440,16440,16440,16440,16440,6000602,Elevated urinary isovalerylglycine level,HPO,phenotype,PHENOTYPE_16440
16441,16441,16441,16441,16441,16441,16441,16441,25264,Stiff ankle,HPO,phenotype,PHENOTYPE_16441
16442,16442,16442,16442,16442,16442,16442,16442,11013,Abnormal circulating carbohydrate concentration,HPO,phenotype,PHENOTYPE_16442
16443,16443,16443,16443,16443,16443,16443,16443,34319,CNS vasculitis with reactivation of varicella-zoster virus,HPO,phenotype,PHENOTYPE_16443
16444,16444,16444,16444,16444,16444,16444,16444,34815,Extreme oligozoospermia,HPO,phenotype,PHENOTYPE_16444
16445,16445,16445,16445,16445,16445,16445,16445,10058,Aplasia/Hypoplasia of the phalanges of the hallux,HPO,phenotype,PHENOTYPE_16445
16446,16446,16446,16446,16446,16446,16446,16446,33372,Abnormal KCO,HPO,phenotype,PHENOTYPE_16446
16447,16447,16447,16447,16447,16447,16447,16447,30281,Cervical C3/C4 vertebral fusion,HPO,phenotype,PHENOTYPE_16447
16448,16448,16448,16448,16448,16448,16448,16448,12292,Fusion of gums,HPO,phenotype,PHENOTYPE_16448
16449,16449,16449,16449,16449,16449,16449,16449,25206,Triggered by cold,HPO,phenotype,PHENOTYPE_16449
16450,16450,16450,16450,16450,16450,16450,16450,960,Sacral dimple,HPO,phenotype,PHENOTYPE_16450
16451,16451,16451,16451,16451,16451,16451,16451,6000107,Cervical motion tenderness,HPO,phenotype,PHENOTYPE_16451
16452,16452,16452,16452,16452,16452,16452,16452,34704,Parotid gland adenocarcinoma,HPO,phenotype,PHENOTYPE_16452
16453,16453,16453,16453,16453,16453,16453,16453,100528,Pleuropulmonary blastoma,HPO,phenotype,PHENOTYPE_16453
16454,16454,16454,16454,16454,16454,16454,16454,6000215,Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity,HPO,phenotype,PHENOTYPE_16454
16455,16455,16455,16455,16455,16455,16455,16455,10017,Cone-shaped epiphysis of the 1st metacarpal,HPO,phenotype,PHENOTYPE_16455
16456,16456,16456,16456,16456,16456,16456,16456,34575,Reduced epidermal collagen IV protein expression,HPO,phenotype,PHENOTYPE_16456
16457,16457,16457,16457,16457,16457,16457,16457,510,Rod-cone dystrophy,HPO,phenotype,PHENOTYPE_16457
16458,16458,16458,16458,16458,16458,16458,16458,30829,Abnormal breath sound,HPO,phenotype,PHENOTYPE_16458
16459,16459,16459,16459,16459,16459,16459,16459,11463,Childhood onset,HPO,phenotype,PHENOTYPE_16459
16460,16460,16460,16460,16460,16460,16460,16460,31533,Multifocal sub-RPE deposits,HPO,phenotype,PHENOTYPE_16460
16461,16461,16461,16461,16461,16461,16461,16461,2917,Hypomagnesemia,HPO,phenotype,PHENOTYPE_16461
16462,16462,16462,16462,16462,16462,16462,16462,33896,Abnormal arcuate artery lumen morphology,HPO,phenotype,PHENOTYPE_16462
16463,16463,16463,16463,16463,16463,16463,16463,31913,Rhombencephalosynapsis,HPO,phenotype,PHENOTYPE_16463
16464,16464,16464,16464,16464,16464,16464,16464,33587,Vulvar abscess,HPO,phenotype,PHENOTYPE_16464
16465,16465,16465,16465,16465,16465,16465,16465,4281,Irregular sclerosis of hand bones,HPO,phenotype,PHENOTYPE_16465
16466,16466,16466,16466,16466,16466,16466,16466,9526,Cone-shaped epiphysis of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_16466
16467,16467,16467,16467,16467,16467,16467,16467,5200213,Diminishment of emotional responsiveness,HPO,phenotype,PHENOTYPE_16467
16468,16468,16468,16468,16468,16468,16468,16468,6001186,Optic disc hemorrhage,HPO,phenotype,PHENOTYPE_16468
16469,16469,16469,16469,16469,16469,16469,16469,25297,Prolonged,HPO,phenotype,PHENOTYPE_16469
16470,16470,16470,16470,16470,16470,16470,16470,20061,Abnormal hemoglobin concentration,HPO,phenotype,PHENOTYPE_16470
16471,16471,16471,16471,16471,16471,16471,16471,25773,Abnormal semantics,HPO,phenotype,PHENOTYPE_16471
16472,16472,16472,16472,16472,16472,16472,16472,20046,Accommodative esotropia,HPO,phenotype,PHENOTYPE_16472
16473,16473,16473,16473,16473,16473,16473,16473,11123,Inflammatory abnormality of the skin,HPO,phenotype,PHENOTYPE_16473
16474,16474,16474,16474,16474,16474,16474,16474,2227,White eyelashes,HPO,phenotype,PHENOTYPE_16474
16475,16475,16475,16475,16475,16475,16475,16475,10655,Epiphyseal stippling,HPO,phenotype,PHENOTYPE_16475
16476,16476,16476,16476,16476,16476,16476,16476,1699,Sudden death,HPO,phenotype,PHENOTYPE_16476
16477,16477,16477,16477,16477,16477,16477,16477,12017,EEG with parietal focal spikes,HPO,phenotype,PHENOTYPE_16477
16478,16478,16478,16478,16478,16478,16478,16478,6000210,Elevated CSF N-carbamyl-beta-alanine concentration,HPO,phenotype,PHENOTYPE_16478
16479,16479,16479,16479,16479,16479,16479,16479,859,Increased circulating aldosterone concentration,HPO,phenotype,PHENOTYPE_16479
16480,16480,16480,16480,16480,16480,16480,16480,5294,Arterial dissection,HPO,phenotype,PHENOTYPE_16480
16481,16481,16481,16481,16481,16481,16481,16481,11180,Partial beta-EEG,HPO,phenotype,PHENOTYPE_16481
16482,16482,16482,16482,16482,16482,16482,16482,6000559,Reduced erythrocyte hexokinase activity,HPO,phenotype,PHENOTYPE_16482
16483,16483,16483,16483,16483,16483,16483,16483,33270,Glomerular capillary congestion,HPO,phenotype,PHENOTYPE_16483
16484,16484,16484,16484,16484,16484,16484,16484,20294,Increased lymph-node cellular CD19 expression,HPO,phenotype,PHENOTYPE_16484
16485,16485,16485,16485,16485,16485,16485,16485,1615,Hoarse cry,HPO,phenotype,PHENOTYPE_16485
16486,16486,16486,16486,16486,16486,16486,16486,4095,Curved fingers,HPO,phenotype,PHENOTYPE_16486
16487,16487,16487,16487,16487,16487,16487,16487,1410,Decreased liver function,HPO,phenotype,PHENOTYPE_16487
16488,16488,16488,16488,16488,16488,16488,16488,11533,Snowflake vitreoretinal degeneration,HPO,phenotype,PHENOTYPE_16488
16489,16489,16489,16489,16489,16489,16489,16489,6000802,Positive bloodstream Tropheryma whippelii nucleic acid test,HPO,phenotype,PHENOTYPE_16489
16490,16490,16490,16490,16490,16490,16490,16490,33873,Cortical peritubular capillary intraluminal thrombi,HPO,phenotype,PHENOTYPE_16490
16491,16491,16491,16491,16491,16491,16491,16491,11652,Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis,HPO,phenotype,PHENOTYPE_16491
16492,16492,16492,16492,16492,16492,16492,16492,2653,Bone pain,HPO,phenotype,PHENOTYPE_16492
16493,16493,16493,16493,16493,16493,16493,16493,579,Nasolacrimal duct obstruction,HPO,phenotype,PHENOTYPE_16493
16494,16494,16494,16494,16494,16494,16494,16494,2803,Congenital contracture,HPO,phenotype,PHENOTYPE_16494
16495,16495,16495,16495,16495,16495,16495,16495,33101,Elevated urine aconitic acid level,HPO,phenotype,PHENOTYPE_16495
16496,16496,16496,16496,16496,16496,16496,16496,9165,Stippling of the epiphysis of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_16496
16497,16497,16497,16497,16497,16497,16497,16497,25592,Superior oblique muscle weakness,HPO,phenotype,PHENOTYPE_16497
16498,16498,16498,16498,16498,16498,16498,16498,500166,Abnormal circulating gastrin concentration,HPO,phenotype,PHENOTYPE_16498
16499,16499,16499,16499,16499,16499,16499,16499,5200233,Anticipatory anxiety,HPO,phenotype,PHENOTYPE_16499
16500,16500,16500,16500,16500,16500,16500,16500,1304,Torsion dystonia,HPO,phenotype,PHENOTYPE_16500
16501,16501,16501,16501,16501,16501,16501,16501,32914,Focal aware perseverative automatism seizure,HPO,phenotype,PHENOTYPE_16501
16502,16502,16502,16502,16502,16502,16502,16502,30928,1-minute APGAR score of 1,HPO,phenotype,PHENOTYPE_16502
16503,16503,16503,16503,16503,16503,16503,16503,1076,Glabellar hemangioma,HPO,phenotype,PHENOTYPE_16503
16504,16504,16504,16504,16504,16504,16504,16504,9945,Duplication of phalanx of 2nd finger,HPO,phenotype,PHENOTYPE_16504
16505,16505,16505,16505,16505,16505,16505,16505,5145,Coronary artery stenosis,HPO,phenotype,PHENOTYPE_16505
16506,16506,16506,16506,16506,16506,16506,16506,11393,Aplasia of the vestibular nerve.,HPO,phenotype,PHENOTYPE_16506
16507,16507,16507,16507,16507,16507,16507,16507,31252,Dilated left subclavian artery,HPO,phenotype,PHENOTYPE_16507
16508,16508,16508,16508,16508,16508,16508,16508,10253,Pseudoepiphyses of the distal phalanges of the hand,HPO,phenotype,PHENOTYPE_16508
16509,16509,16509,16509,16509,16509,16509,16509,6000421,Collarettes,HPO,phenotype,PHENOTYPE_16509
16510,16510,16510,16510,16510,16510,16510,16510,10325,Aplasia/Hypoplasia of the 2nd toe,HPO,phenotype,PHENOTYPE_16510
16511,16511,16511,16511,16511,16511,16511,16511,33908,Renal arteriole medial atrophy,HPO,phenotype,PHENOTYPE_16511
16512,16512,16512,16512,16512,16512,16512,16512,32032,Horizontal eyelid laxity,HPO,phenotype,PHENOTYPE_16512
16513,16513,16513,16513,16513,16513,16513,16513,6515,Interstitial pneumonitis,HPO,phenotype,PHENOTYPE_16513
16514,16514,16514,16514,16514,16514,16514,16514,410368,Increased globoside Gb3 level,HPO,phenotype,PHENOTYPE_16514
16515,16515,16515,16515,16515,16515,16515,16515,9566,Short distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_16515
16516,16516,16516,16516,16516,16516,16516,16516,25526,Psoriasiform lesion,HPO,phenotype,PHENOTYPE_16516
16517,16517,16517,16517,16517,16517,16517,16517,455,Broad nasal tip,HPO,phenotype,PHENOTYPE_16517
16518,16518,16518,16518,16518,16518,16518,16518,30774,Mitochondrial swelling,HPO,phenotype,PHENOTYPE_16518
16519,16519,16519,16519,16519,16519,16519,16519,5625,Osteoporosis of vertebrae,HPO,phenotype,PHENOTYPE_16519
16520,16520,16520,16520,16520,16520,16520,16520,10958,Bilateral renal agenesis,HPO,phenotype,PHENOTYPE_16520
16521,16521,16521,16521,16521,16521,16521,16521,9490,Cone-shaped epiphyses of the 2nd finger,HPO,phenotype,PHENOTYPE_16521
16522,16522,16522,16522,16522,16522,16522,16522,6001148,Pain exacerbated by passive flexion at joint,HPO,phenotype,PHENOTYPE_16522
16523,16523,16523,16523,16523,16523,16523,16523,1798,Anonychia,HPO,phenotype,PHENOTYPE_16523
16524,16524,16524,16524,16524,16524,16524,16524,31714,Distance exotropia,HPO,phenotype,PHENOTYPE_16524
16525,16525,16525,16525,16525,16525,16525,16525,32713,Focal impaired awareness motor seizure with version,HPO,phenotype,PHENOTYPE_16525
16526,16526,16526,16526,16526,16526,16526,16526,500057,Retinopathy of prematurity stage 5a,HPO,phenotype,PHENOTYPE_16526
16527,16527,16527,16527,16527,16527,16527,16527,12738,Agenesis of canine,HPO,phenotype,PHENOTYPE_16527
16528,16528,16528,16528,16528,16528,16528,16528,12843,Hair follicle neoplasm,HPO,phenotype,PHENOTYPE_16528
16529,16529,16529,16529,16529,16529,16529,16529,240,Abnormality of skull size,HPO,phenotype,PHENOTYPE_16529
16530,16530,16530,16530,16530,16530,16530,16530,2750,Delayed skeletal maturation,HPO,phenotype,PHENOTYPE_16530
16531,16531,16531,16531,16531,16531,16531,16531,32416,Retinal microaneurysm,HPO,phenotype,PHENOTYPE_16531
16532,16532,16532,16532,16532,16532,16532,16532,6001179,Positive CSF anti-measles antibody test,HPO,phenotype,PHENOTYPE_16532
16533,16533,16533,16533,16533,16533,16533,16533,10756,Aplasia/Hypoplasia of the premaxilla,HPO,phenotype,PHENOTYPE_16533
16534,16534,16534,16534,16534,16534,16534,16534,3895,Flattened humeral epiphyses,HPO,phenotype,PHENOTYPE_16534
16535,16535,16535,16535,16535,16535,16535,16535,9543,Abnormality of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_16535
16536,16536,16536,16536,16536,16536,16536,16536,34534,Triggered by serotonin reuptake inhibitor,HPO,phenotype,PHENOTYPE_16536
16537,16537,16537,16537,16537,16537,16537,16537,34620,Elevated circulating membrane cofactor protein concentration,HPO,phenotype,PHENOTYPE_16537
16538,16538,16538,16538,16538,16538,16538,16538,33457,Elevated urine 3-methyl-2-oxovaleric acid level,HPO,phenotype,PHENOTYPE_16538
16539,16539,16539,16539,16539,16539,16539,16539,33635,Post-capillary pulmonary hypertension,HPO,phenotype,PHENOTYPE_16539
16540,16540,16540,16540,16540,16540,16540,16540,5200298,Abnormal sleep architecture,HPO,phenotype,PHENOTYPE_16540
16541,16541,16541,16541,16541,16541,16541,16541,6000562,Reduced circulating adenosine deaminase-2 activity,HPO,phenotype,PHENOTYPE_16541
16542,16542,16542,16542,16542,16542,16542,16542,9616,Bifid first metacarpal,HPO,phenotype,PHENOTYPE_16542
16543,16543,16543,16543,16543,16543,16543,16543,7016,Corticospinal tract hypoplasia,HPO,phenotype,PHENOTYPE_16543
16544,16544,16544,16544,16544,16544,16544,16544,4872,Incisional hernia,HPO,phenotype,PHENOTYPE_16544
16545,16545,16545,16545,16545,16545,16545,16545,1284,Areflexia,HPO,phenotype,PHENOTYPE_16545
16546,16546,16546,16546,16546,16546,16546,16546,33741,Grade IV vesicoureteral reflux,HPO,phenotype,PHENOTYPE_16546
16547,16547,16547,16547,16547,16547,16547,16547,3445,EMG: neuropathic changes,HPO,phenotype,PHENOTYPE_16547
16548,16548,16548,16548,16548,16548,16548,16548,10684,Low alkaline phosphatase of bone origin,HPO,phenotype,PHENOTYPE_16548
16549,16549,16549,16549,16549,16549,16549,16549,6897,Abducens palsy,HPO,phenotype,PHENOTYPE_16549
16550,16550,16550,16550,16550,16550,16550,16550,11923,Decreased activity of mitochondrial complex I,HPO,phenotype,PHENOTYPE_16550
16551,16551,16551,16551,16551,16551,16551,16551,200158,Agenesis of permanent mandibular lateral incisor,HPO,phenotype,PHENOTYPE_16551
16552,16552,16552,16552,16552,16552,16552,16552,6000141,Cerebral contusion,HPO,phenotype,PHENOTYPE_16552
16553,16553,16553,16553,16553,16553,16553,16553,6000309,Menstruating female between menarche and menopause,HPO,phenotype,PHENOTYPE_16553
16554,16554,16554,16554,16554,16554,16554,16554,6055,Ulnar deviated club hands,HPO,phenotype,PHENOTYPE_16554
16555,16555,16555,16555,16555,16555,16555,16555,32205,Increased circulating galectin-3 level,HPO,phenotype,PHENOTYPE_16555
16556,16556,16556,16556,16556,16556,16556,16556,33818,Reticular,HPO,phenotype,PHENOTYPE_16556
16557,16557,16557,16557,16557,16557,16557,16557,33001,Laryngeal papilloma,HPO,phenotype,PHENOTYPE_16557
16558,16558,16558,16558,16558,16558,16558,16558,6000711,Triggering by ocular trauma,HPO,phenotype,PHENOTYPE_16558
16559,16559,16559,16559,16559,16559,16559,16559,5000001,Anti-AMPAR antibody positivity,HPO,phenotype,PHENOTYPE_16559
16560,16560,16560,16560,16560,16560,16560,16560,6000700,Reduced breast milk zinc concentration,HPO,phenotype,PHENOTYPE_16560
16561,16561,16561,16561,16561,16561,16561,16561,8689,Bilateral cryptorchidism,HPO,phenotype,PHENOTYPE_16561
16562,16562,16562,16562,16562,16562,16562,16562,45006,Aplasia of lymphatic vessels,HPO,phenotype,PHENOTYPE_16562
16563,16563,16563,16563,16563,16563,16563,16563,8107,Plantar crease between first and second toes,HPO,phenotype,PHENOTYPE_16563
16564,16564,16564,16564,16564,16564,16564,16564,20076,Wrist ganglion,HPO,phenotype,PHENOTYPE_16564
16565,16565,16565,16565,16565,16565,16565,16565,100721,Mediastinal lymphadenopathy,HPO,phenotype,PHENOTYPE_16565
16566,16566,16566,16566,16566,16566,16566,16566,11799,Abnormality of facial soft tissue,HPO,phenotype,PHENOTYPE_16566
16567,16567,16567,16567,16567,16567,16567,16567,6121,Acral ulceration,HPO,phenotype,PHENOTYPE_16567
16568,16568,16568,16568,16568,16568,16568,16568,8497,Congenital craniofacial dysostosis,HPO,phenotype,PHENOTYPE_16568
16569,16569,16569,16569,16569,16569,16569,16569,40248,Reduced plasminogen activator inhibitor 1 activity,HPO,phenotype,PHENOTYPE_16569
16570,16570,16570,16570,16570,16570,16570,16570,31490,Hemangioma of the lip,HPO,phenotype,PHENOTYPE_16570
16571,16571,16571,16571,16571,16571,16571,16571,30602,Abnormal fundus autofluorescence imaging,HPO,phenotype,PHENOTYPE_16571
16572,16572,16572,16572,16572,16572,16572,16572,8523,Posterior helix pit,HPO,phenotype,PHENOTYPE_16572
16573,16573,16573,16573,16573,16573,16573,16573,11391,Abnormal inner ear nerve morphology,HPO,phenotype,PHENOTYPE_16573
16574,16574,16574,16574,16574,16574,16574,16574,12883,Fallopian tube cyst,HPO,phenotype,PHENOTYPE_16574
16575,16575,16575,16575,16575,16575,16575,16575,32849,Aphasic status epilepticus,HPO,phenotype,PHENOTYPE_16575
16576,16576,16576,16576,16576,16576,16576,16576,8110,Equinovarus deformity,HPO,phenotype,PHENOTYPE_16576
16577,16577,16577,16577,16577,16577,16577,16577,9196,Absent metacarpal epiphyses,HPO,phenotype,PHENOTYPE_16577
16578,16578,16578,16578,16578,16578,16578,16578,1586,Vesicovaginal fistula,HPO,phenotype,PHENOTYPE_16578
16579,16579,16579,16579,16579,16579,16579,16579,9957,Complete duplication of the phalanges of the 2nd finger,HPO,phenotype,PHENOTYPE_16579
16580,16580,16580,16580,16580,16580,16580,16580,32422,Abnormal HDL2b concentration,HPO,phenotype,PHENOTYPE_16580
16581,16581,16581,16581,16581,16581,16581,16581,4395,Malnutrition,HPO,phenotype,PHENOTYPE_16581
16582,16582,16582,16582,16582,16582,16582,16582,9027,Foot dorsiflexor weakness,HPO,phenotype,PHENOTYPE_16582
16583,16583,16583,16583,16583,16583,16583,16583,6507,Aplasia/hypoplasia of the humerus,HPO,phenotype,PHENOTYPE_16583
16584,16584,16584,16584,16584,16584,16584,16584,4292,Undermodelled hand bones,HPO,phenotype,PHENOTYPE_16584
16585,16585,16585,16585,16585,16585,16585,16585,7811,Horizontal pendular nystagmus,HPO,phenotype,PHENOTYPE_16585
16586,16586,16586,16586,16586,16586,16586,16586,31164,Growth arrest lines,HPO,phenotype,PHENOTYPE_16586
16587,16587,16587,16587,16587,16587,16587,16587,8227,Pituitary resistance to thyroid hormone,HPO,phenotype,PHENOTYPE_16587
16588,16588,16588,16588,16588,16588,16588,16588,25119,Violet lip discoloration,HPO,phenotype,PHENOTYPE_16588
16589,16589,16589,16589,16589,16589,16589,16589,12744,Femoral aplasia,HPO,phenotype,PHENOTYPE_16589
16590,16590,16590,16590,16590,16590,16590,16590,31275,Distributive shock,HPO,phenotype,PHENOTYPE_16590
16591,16591,16591,16591,16591,16591,16591,16591,2582,Atrophic gastritis,HPO,phenotype,PHENOTYPE_16591
16592,16592,16592,16592,16592,16592,16592,16592,9316,Abnormal 3rd finger phalanx morphology,HPO,phenotype,PHENOTYPE_16592
16593,16593,16593,16593,16593,16593,16593,16593,10917,Abnormal circulating tyrosine concentration,HPO,phenotype,PHENOTYPE_16593
16594,16594,16594,16594,16594,16594,16594,16594,33404,Intestinal ischemia,HPO,phenotype,PHENOTYPE_16594
16595,16595,16595,16595,16595,16595,16595,16595,6000584,Anti Parvovirus antibody positivity,HPO,phenotype,PHENOTYPE_16595
16596,16596,16596,16596,16596,16596,16596,16596,2901,Hypocalcemia,HPO,phenotype,PHENOTYPE_16596
16597,16597,16597,16597,16597,16597,16597,16597,500024,Aplasia of the musculature of the pelvis,HPO,phenotype,PHENOTYPE_16597
16598,16598,16598,16598,16598,16598,16598,16598,20226,Nipple tenderness,HPO,phenotype,PHENOTYPE_16598
16599,16599,16599,16599,16599,16599,16599,16599,6000706,New medication added in recent weeks,HPO,phenotype,PHENOTYPE_16599
16600,16600,16600,16600,16600,16600,16600,16600,7464,Sparse facial hair,HPO,phenotype,PHENOTYPE_16600
16601,16601,16601,16601,16601,16601,16601,16601,10635,Partial hyposmia,HPO,phenotype,PHENOTYPE_16601
16602,16602,16602,16602,16602,16602,16602,16602,33999,Bronchial hemorrhage,HPO,phenotype,PHENOTYPE_16602
16603,16603,16603,16603,16603,16603,16603,16603,6000159,Hepatic lipid-laden macrophage infiltration,HPO,phenotype,PHENOTYPE_16603
16604,16604,16604,16604,16604,16604,16604,16604,34649,Elevated urine N-acetylaspartic acid level,HPO,phenotype,PHENOTYPE_16604
16605,16605,16605,16605,16605,16605,16605,16605,7482,Generalized papillary lesions,HPO,phenotype,PHENOTYPE_16605
16606,16606,16606,16606,16606,16606,16606,16606,12378,Fatigue,HPO,phenotype,PHENOTYPE_16606
16607,16607,16607,16607,16607,16607,16607,16607,12055,Ciliary body melanoma,HPO,phenotype,PHENOTYPE_16607
16608,16608,16608,16608,16608,16608,16608,16608,30417,Squamous cell carcinoma of the vulva,HPO,phenotype,PHENOTYPE_16608
16609,16609,16609,16609,16609,16609,16609,16609,3606,Absent urinary urothione,HPO,phenotype,PHENOTYPE_16609
16610,16610,16610,16610,16610,16610,16610,16610,34529,Reduced muscle myoadenylate deaminase activity,HPO,phenotype,PHENOTYPE_16610
16611,16611,16611,16611,16611,16611,16611,16611,40314,Blind vagina,HPO,phenotype,PHENOTYPE_16611
16612,16612,16612,16612,16612,16612,16612,16612,4000075,Reduced frequency of facial expressions,HPO,phenotype,PHENOTYPE_16612
16613,16613,16613,16613,16613,16613,16613,16613,3941,Stippled calcification of the elbow,HPO,phenotype,PHENOTYPE_16613
16614,16614,16614,16614,16614,16614,16614,16614,33525,Absent sperm axoneme central pair complex,HPO,phenotype,PHENOTYPE_16614
16615,16615,16615,16615,16615,16615,16615,16615,20245,Crowded lymph-node follicles,HPO,phenotype,PHENOTYPE_16615
16616,16616,16616,16616,16616,16616,16616,16616,2942,Thoracic kyphosis,HPO,phenotype,PHENOTYPE_16616
16617,16617,16617,16617,16617,16617,16617,16617,1574,Abnormality of the integument,HPO,phenotype,PHENOTYPE_16617
16618,16618,16618,16618,16618,16618,16618,16618,6000279,Elevated urinary N-carbamoyl-beta-alanine level,HPO,phenotype,PHENOTYPE_16618
16619,16619,16619,16619,16619,16619,16619,16619,12382,Left-to-right shunt,HPO,phenotype,PHENOTYPE_16619
16620,16620,16620,16620,16620,16620,16620,16620,5200417,Grandiose delusion,HPO,phenotype,PHENOTYPE_16620
16621,16621,16621,16621,16621,16621,16621,16621,33817,Miliary,HPO,phenotype,PHENOTYPE_16621
16622,16622,16622,16622,16622,16622,16622,16622,7302,Bipolar affective disorder,HPO,phenotype,PHENOTYPE_16622
16623,16623,16623,16623,16623,16623,16623,16623,7900,Hypoplastic lacrimal duct,HPO,phenotype,PHENOTYPE_16623
16624,16624,16624,16624,16624,16624,16624,16624,4598,Supernumerary vertebral ossification centers,HPO,phenotype,PHENOTYPE_16624
16625,16625,16625,16625,16625,16625,16625,16625,30984,Abnormal serum bile acid concentration,HPO,phenotype,PHENOTYPE_16625
16626,16626,16626,16626,16626,16626,16626,16626,1782,Bulbous tips of toes,HPO,phenotype,PHENOTYPE_16626
16627,16627,16627,16627,16627,16627,16627,16627,6607,Precocious costochondral ossification,HPO,phenotype,PHENOTYPE_16627
16628,16628,16628,16628,16628,16628,16628,16628,200015,Symmetric great toe depigmentation,HPO,phenotype,PHENOTYPE_16628
16629,16629,16629,16629,16629,16629,16629,16629,79,Abnormality of the urinary system,HPO,phenotype,PHENOTYPE_16629
16630,16630,16630,16630,16630,16630,16630,16630,6001076,Exacerbated by heat,HPO,phenotype,PHENOTYPE_16630
16631,16631,16631,16631,16631,16631,16631,16631,100010,Spinal meningioma,HPO,phenotype,PHENOTYPE_16631
16632,16632,16632,16632,16632,16632,16632,16632,6000936,Thickened cortex of the clavicle,HPO,phenotype,PHENOTYPE_16632
16633,16633,16633,16633,16633,16633,16633,16633,4000140,Fetal bowel dilatation,HPO,phenotype,PHENOTYPE_16633
16634,16634,16634,16634,16634,16634,16634,16634,5356,Decreased circulating complement factor I concentration,HPO,phenotype,PHENOTYPE_16634
16635,16635,16635,16635,16635,16635,16635,16635,33072,Abnormal macroscopic urine appearance,HPO,phenotype,PHENOTYPE_16635
16636,16636,16636,16636,16636,16636,16636,16636,31495,Mucinous neoplasm,HPO,phenotype,PHENOTYPE_16636
16637,16637,16637,16637,16637,16637,16637,16637,33482,Limited shoulder flexion,HPO,phenotype,PHENOTYPE_16637
16638,16638,16638,16638,16638,16638,16638,16638,32187,Anal intraepithelial neoplasia,HPO,phenotype,PHENOTYPE_16638
16639,16639,16639,16639,16639,16639,16639,16639,2256,Small bowel diverticula,HPO,phenotype,PHENOTYPE_16639
16640,16640,16640,16640,16640,16640,16640,16640,7663,Reduced visual acuity,HPO,phenotype,PHENOTYPE_16640
16641,16641,16641,16641,16641,16641,16641,16641,8133,Distal tapering of metatarsals,HPO,phenotype,PHENOTYPE_16641
16642,16642,16642,16642,16642,16642,16642,16642,1707,Abnormal right ventricle morphology,HPO,phenotype,PHENOTYPE_16642
16643,16643,16643,16643,16643,16643,16643,16643,30133,Abnormal presence of ultra-large von Willebrand factor multimers,HPO,phenotype,PHENOTYPE_16643
16644,16644,16644,16644,16644,16644,16644,16644,45084,Limb myoclonus,HPO,phenotype,PHENOTYPE_16644
16645,16645,16645,16645,16645,16645,16645,16645,3877,Oval transradiancy of humerus,HPO,phenotype,PHENOTYPE_16645
16646,16646,16646,16646,16646,16646,16646,16646,11197,EEG with focal spike waves,HPO,phenotype,PHENOTYPE_16646
16647,16647,16647,16647,16647,16647,16647,16647,9028,Generalized weakness of limb muscles,HPO,phenotype,PHENOTYPE_16647
16648,16648,16648,16648,16648,16648,16648,16648,430100,FMC7 expression,HPO,phenotype,PHENOTYPE_16648
16649,16649,16649,16649,16649,16649,16649,16649,2216,Premature graying of hair,HPO,phenotype,PHENOTYPE_16649
16650,16650,16650,16650,16650,16650,16650,16650,594,Shallow anterior chamber,HPO,phenotype,PHENOTYPE_16650
16651,16651,16651,16651,16651,16651,16651,16651,33355,Increased urine deoxypyridinoline level,HPO,phenotype,PHENOTYPE_16651
16652,16652,16652,16652,16652,16652,16652,16652,30816,Gingival recession,HPO,phenotype,PHENOTYPE_16652
16653,16653,16653,16653,16653,16653,16653,16653,1182,Tapered finger,HPO,phenotype,PHENOTYPE_16653
16654,16654,16654,16654,16654,16654,16654,16654,430123,Positive CSF infectious agent test,HPO,phenotype,PHENOTYPE_16654
16655,16655,16655,16655,16655,16655,16655,16655,10021,Ivory epiphysis of the 1st metacarpal,HPO,phenotype,PHENOTYPE_16655
16656,16656,16656,16656,16656,16656,16656,16656,6465,Periosteal thickening of long tubular bones,HPO,phenotype,PHENOTYPE_16656
16657,16657,16657,16657,16657,16657,16657,16657,25335,Delayed ability to stand,HPO,phenotype,PHENOTYPE_16657
16658,16658,16658,16658,16658,16658,16658,16658,10758,Abnormality of the premaxilla,HPO,phenotype,PHENOTYPE_16658
16659,16659,16659,16659,16659,16659,16659,16659,6000273,Elevated circulating decanoylcarnitine concentration,HPO,phenotype,PHENOTYPE_16659
16660,16660,16660,16660,16660,16660,16660,16660,500241,Abnormal CSF homocarnosine concentration,HPO,phenotype,PHENOTYPE_16660
16661,16661,16661,16661,16661,16661,16661,16661,25125,White lesion of the oral mucosa,HPO,phenotype,PHENOTYPE_16661
16662,16662,16662,16662,16662,16662,16662,16662,6459,Dorsal subluxation of ulna,HPO,phenotype,PHENOTYPE_16662
16663,16663,16663,16663,16663,16663,16663,16663,31387,Increased multinucleated megakaryocyte count,HPO,phenotype,PHENOTYPE_16663
16664,16664,16664,16664,16664,16664,16664,16664,100921,Sclerosis of 5th finger phalanx,HPO,phenotype,PHENOTYPE_16664
16665,16665,16665,16665,16665,16665,16665,16665,100588,Paraphimosis,HPO,phenotype,PHENOTYPE_16665
16666,16666,16666,16666,16666,16666,16666,16666,10243,Abnormality of the epiphyses of the distal phalanx of finger,HPO,phenotype,PHENOTYPE_16666
16667,16667,16667,16667,16667,16667,16667,16667,3281,Increased circulating ferritin concentration,HPO,phenotype,PHENOTYPE_16667
16668,16668,16668,16668,16668,16668,16668,16668,9257,Pseudoepiphysis of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_16668
16669,16669,16669,16669,16669,16669,16669,16669,6000120,Elevated urinary sulfatide level,HPO,phenotype,PHENOTYPE_16669
16670,16670,16670,16670,16670,16670,16670,16670,7913,Reticular retinal dystrophy,HPO,phenotype,PHENOTYPE_16670
16671,16671,16671,16671,16671,16671,16671,16671,40245,Reduced alpha-2-antiplasmin activity,HPO,phenotype,PHENOTYPE_16671
16672,16672,16672,16672,16672,16672,16672,16672,9584,Osteolytic defects of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_16672
16673,16673,16673,16673,16673,16673,16673,16673,33891,Renal arteriolar lumen cholesterol emboli,HPO,phenotype,PHENOTYPE_16673
16674,16674,16674,16674,16674,16674,16674,16674,34435,Abnormal eye contact,HPO,phenotype,PHENOTYPE_16674
16675,16675,16675,16675,16675,16675,16675,16675,500090,Periocular capillary hemangioma,HPO,phenotype,PHENOTYPE_16675
16676,16676,16676,16676,16676,16676,16676,16676,31058,Impairment of activities of daily living,HPO,phenotype,PHENOTYPE_16676
16677,16677,16677,16677,16677,16677,16677,16677,3787,Type 1 and type 2 muscle fiber minicore regions,HPO,phenotype,PHENOTYPE_16677
16678,16678,16678,16678,16678,16678,16678,16678,100243,Leiomyosarcoma,HPO,phenotype,PHENOTYPE_16678
16679,16679,16679,16679,16679,16679,16679,16679,5004,Flattened proximal radial epiphyses,HPO,phenotype,PHENOTYPE_16679
16680,16680,16680,16680,16680,16680,16680,16680,6000393,Elevated urine trihydroxycholestanoic acid level,HPO,phenotype,PHENOTYPE_16680
16681,16681,16681,16681,16681,16681,16681,16681,6000035,Palpitations terminated by Valsava maneuver,HPO,phenotype,PHENOTYPE_16681
16682,16682,16682,16682,16682,16682,16682,16682,33346,Psychic epileptic aura,HPO,phenotype,PHENOTYPE_16682
16683,16683,16683,16683,16683,16683,16683,16683,4262,Abnormal capitate bone morphology,HPO,phenotype,PHENOTYPE_16683
16684,16684,16684,16684,16684,16684,16684,16684,12052,Low serum calcitriol,HPO,phenotype,PHENOTYPE_16684
16685,16685,16685,16685,16685,16685,16685,16685,6001099,Iliac vein compression,HPO,phenotype,PHENOTYPE_16685
16686,16686,16686,16686,16686,16686,16686,16686,10009,Abnormal 1st metacarpal morphology,HPO,phenotype,PHENOTYPE_16686
16687,16687,16687,16687,16687,16687,16687,16687,5768,2-4 toe cutaneous syndactyly,HPO,phenotype,PHENOTYPE_16687
16688,16688,16688,16688,16688,16688,16688,16688,25701,Distended jugular lymphatic sacs,HPO,phenotype,PHENOTYPE_16688
16689,16689,16689,16689,16689,16689,16689,16689,7704,Paroxysmal involuntary eye movements,HPO,phenotype,PHENOTYPE_16689
16690,16690,16690,16690,16690,16690,16690,16690,9326,Irregular epiphysis of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_16690
16691,16691,16691,16691,16691,16691,16691,16691,10126,Abnormality of the epiphysis of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_16691
16692,16692,16692,16692,16692,16692,16692,16692,4342,Abnormal galactosidase enyzme activity,HPO,phenotype,PHENOTYPE_16692
16693,16693,16693,16693,16693,16693,16693,16693,6000558,Reduced erythrocyte adenylate kinase activity,HPO,phenotype,PHENOTYPE_16693
16694,16694,16694,16694,16694,16694,16694,16694,31357,Glomeruloid hemangioma,HPO,phenotype,PHENOTYPE_16694
16695,16695,16695,16695,16695,16695,16695,16695,180,Lobulated tongue,HPO,phenotype,PHENOTYPE_16695
16696,16696,16696,16696,16696,16696,16696,16696,9837,Bullet-shaped distal phalanges of the hand,HPO,phenotype,PHENOTYPE_16696
16697,16697,16697,16697,16697,16697,16697,16697,6389,Limited knee flexion,HPO,phenotype,PHENOTYPE_16697
16698,16698,16698,16698,16698,16698,16698,16698,5275,Cartilaginous ossification of nose,HPO,phenotype,PHENOTYPE_16698
16699,16699,16699,16699,16699,16699,16699,16699,6420,Asymmetric radial dysplasia,HPO,phenotype,PHENOTYPE_16699
16700,16700,16700,16700,16700,16700,16700,16700,10644,Midnasal stenosis,HPO,phenotype,PHENOTYPE_16700
16701,16701,16701,16701,16701,16701,16701,16701,6964,Cerebral cortical neurodegeneration,HPO,phenotype,PHENOTYPE_16701
16702,16702,16702,16702,16702,16702,16702,16702,172,Abnormal uvula morphology,HPO,phenotype,PHENOTYPE_16702
16703,16703,16703,16703,16703,16703,16703,16703,25276,Abnormality of skin adnexa physiology,HPO,phenotype,PHENOTYPE_16703
16704,16704,16704,16704,16704,16704,16704,16704,4000133,Triggered by angiotensin-converting enzyme inhibitor,HPO,phenotype,PHENOTYPE_16704
16705,16705,16705,16705,16705,16705,16705,16705,20278,Abnormal lymph-node lymphoctye nuclear morphology,HPO,phenotype,PHENOTYPE_16705
16706,16706,16706,16706,16706,16706,16706,16706,31878,Acromicria,HPO,phenotype,PHENOTYPE_16706
16707,16707,16707,16707,16707,16707,16707,16707,12285,Abnormal hypothalamus physiology,HPO,phenotype,PHENOTYPE_16707
16708,16708,16708,16708,16708,16708,16708,16708,10202,Duplication of middle phalanx of toe,HPO,phenotype,PHENOTYPE_16708
16709,16709,16709,16709,16709,16709,16709,16709,7373,Motor neuron atrophy,HPO,phenotype,PHENOTYPE_16709
16710,16710,16710,16710,16710,16710,16710,16710,10079,Curved distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_16710
16711,16711,16711,16711,16711,16711,16711,16711,224,Hypogeusia,HPO,phenotype,PHENOTYPE_16711
16712,16712,16712,16712,16712,16712,16712,16712,9638,Short proximal phalanx of thumb,HPO,phenotype,PHENOTYPE_16712
16713,16713,16713,16713,16713,16713,16713,16713,4000014,Anti-desmoglein-3 antibody positivity,HPO,phenotype,PHENOTYPE_16713
16714,16714,16714,16714,16714,16714,16714,16714,3693,Distal amyotrophy,HPO,phenotype,PHENOTYPE_16714
16715,16715,16715,16715,16715,16715,16715,16715,1125,Transient unilateral blurring of vision,HPO,phenotype,PHENOTYPE_16715
16716,16716,16716,16716,16716,16716,16716,16716,34363,Corneal pterygium,HPO,phenotype,PHENOTYPE_16716
16717,16717,16717,16717,16717,16717,16717,16717,6145,Central Y-shaped metacarpal,HPO,phenotype,PHENOTYPE_16717
16718,16718,16718,16718,16718,16718,16718,16718,7862,Retinal calcification,HPO,phenotype,PHENOTYPE_16718
16719,16719,16719,16719,16719,16719,16719,16719,7670,Abnormal vestibulo-ocular reflex,HPO,phenotype,PHENOTYPE_16719
16720,16720,16720,16720,16720,16720,16720,16720,9774,Triangular shaped phalanges of the hand,HPO,phenotype,PHENOTYPE_16720
16721,16721,16721,16721,16721,16721,16721,16721,31969,Reduced blood urea nitrogen,HPO,phenotype,PHENOTYPE_16721
16722,16722,16722,16722,16722,16722,16722,16722,33576,Anti-H2B antibody positivity,HPO,phenotype,PHENOTYPE_16722
16723,16723,16723,16723,16723,16723,16723,16723,32413,Diffuse subcortical band heterotopia,HPO,phenotype,PHENOTYPE_16723
16724,16724,16724,16724,16724,16724,16724,16724,31299,Elevated left atrial pressure,HPO,phenotype,PHENOTYPE_16724
16725,16725,16725,16725,16725,16725,16725,16725,500051,Retinopathy of prematurity stage 2,HPO,phenotype,PHENOTYPE_16725
16726,16726,16726,16726,16726,16726,16726,16726,4968,Recurrent cerebral hemorrhage,HPO,phenotype,PHENOTYPE_16726
16727,16727,16727,16727,16727,16727,16727,16727,11107,Recurrent aphthous stomatitis,HPO,phenotype,PHENOTYPE_16727
16728,16728,16728,16728,16728,16728,16728,16728,3110,Abnormality of urine homeostasis,HPO,phenotype,PHENOTYPE_16728
16729,16729,16729,16729,16729,16729,16729,16729,30345,Abnormal circulating luteinizing hormone concentration,HPO,phenotype,PHENOTYPE_16729
16730,16730,16730,16730,16730,16730,16730,16730,3405,Diffuse axonal swelling,HPO,phenotype,PHENOTYPE_16730
16731,16731,16731,16731,16731,16731,16731,16731,7230,Decreased distal sensory nerve action potential,HPO,phenotype,PHENOTYPE_16731
16732,16732,16732,16732,16732,16732,16732,16732,100536,Abnormal fascia morphology,HPO,phenotype,PHENOTYPE_16732
16733,16733,16733,16733,16733,16733,16733,16733,1560,Abnormality of the amniotic fluid,HPO,phenotype,PHENOTYPE_16733
16734,16734,16734,16734,16734,16734,16734,16734,6001093,Exposure to vaginal douching,HPO,phenotype,PHENOTYPE_16734
16735,16735,16735,16735,16735,16735,16735,16735,34503,Ovarian torsion,HPO,phenotype,PHENOTYPE_16735
16736,16736,16736,16736,16736,16736,16736,16736,4000146,History of recent dental procedure,HPO,phenotype,PHENOTYPE_16736
16737,16737,16737,16737,16737,16737,16737,16737,430144,Frontalis muscle overactivity,HPO,phenotype,PHENOTYPE_16737
16738,16738,16738,16738,16738,16738,16738,16738,11775,Thyroid macrofollicular adenoma,HPO,phenotype,PHENOTYPE_16738
16739,16739,16739,16739,16739,16739,16739,16739,11486,Abnormal corneal thickness,HPO,phenotype,PHENOTYPE_16739
16740,16740,16740,16740,16740,16740,16740,16740,32955,Renal tubular polyoma virus inclusions,HPO,phenotype,PHENOTYPE_16740
16741,16741,16741,16741,16741,16741,16741,16741,11226,Aplasia/Hypoplasia of the eyelid,HPO,phenotype,PHENOTYPE_16741
16742,16742,16742,16742,16742,16742,16742,16742,1992,Organic aciduria,HPO,phenotype,PHENOTYPE_16742
16743,16743,16743,16743,16743,16743,16743,16743,32547,Low intraocular pressure,HPO,phenotype,PHENOTYPE_16743
16744,16744,16744,16744,16744,16744,16744,16744,10554,Cutaneous finger syndactyly,HPO,phenotype,PHENOTYPE_16744
16745,16745,16745,16745,16745,16745,16745,16745,33269,Glomerular capillary collapse,HPO,phenotype,PHENOTYPE_16745
16746,16746,16746,16746,16746,16746,16746,16746,32548,Increased placental thickness,HPO,phenotype,PHENOTYPE_16746
16747,16747,16747,16747,16747,16747,16747,16747,500013,Lack of gonadotropin-releasing hormone pulsatility,HPO,phenotype,PHENOTYPE_16747
16748,16748,16748,16748,16748,16748,16748,16748,5200,Retroperitoneal fibrosis,HPO,phenotype,PHENOTYPE_16748
16749,16749,16749,16749,16749,16749,16749,16749,2286,Fair hair,HPO,phenotype,PHENOTYPE_16749
16750,16750,16750,16750,16750,16750,16750,16750,500255,Increased level of hexanoylglycine in urine,HPO,phenotype,PHENOTYPE_16750
16751,16751,16751,16751,16751,16751,16751,16751,410258,Neutrophilia in absence of infection,HPO,phenotype,PHENOTYPE_16751
16752,16752,16752,16752,16752,16752,16752,16752,11499,Mydriasis,HPO,phenotype,PHENOTYPE_16752
16753,16753,16753,16753,16753,16753,16753,16753,1969,Abnormal tubulointerstitial morphology,HPO,phenotype,PHENOTYPE_16753
16754,16754,16754,16754,16754,16754,16754,16754,6000101,Corneopalpebral synechiae,HPO,phenotype,PHENOTYPE_16754
16755,16755,16755,16755,16755,16755,16755,16755,31682,Type V atherosclerotic lesion,HPO,phenotype,PHENOTYPE_16755
16756,16756,16756,16756,16756,16756,16756,16756,31278,Abnormal thoracic duct morphology,HPO,phenotype,PHENOTYPE_16756
16757,16757,16757,16757,16757,16757,16757,16757,1043,Prominent scalp veins,HPO,phenotype,PHENOTYPE_16757
16758,16758,16758,16758,16758,16758,16758,16758,1362,Calvarial skull defect,HPO,phenotype,PHENOTYPE_16758
16759,16759,16759,16759,16759,16759,16759,16759,8193,Primary gonadal insufficiency,HPO,phenotype,PHENOTYPE_16759
16760,16760,16760,16760,16760,16760,16760,16760,2084,Encephalocele,HPO,phenotype,PHENOTYPE_16760
16761,16761,16761,16761,16761,16761,16761,16761,4898,Persistent lactic acidosis,HPO,phenotype,PHENOTYPE_16761
16762,16762,16762,16762,16762,16762,16762,16762,10829,Impaired temperature sensation,HPO,phenotype,PHENOTYPE_16762
16763,16763,16763,16763,16763,16763,16763,16763,12398,Peripheral edema,HPO,phenotype,PHENOTYPE_16763
16764,16764,16764,16764,16764,16764,16764,16764,410148,Idiopathic anaphylaxis,HPO,phenotype,PHENOTYPE_16764
16765,16765,16765,16765,16765,16765,16765,16765,834,Abnormality of the adrenal glands,HPO,phenotype,PHENOTYPE_16765
16766,16766,16766,16766,16766,16766,16766,16766,8441,Herniation of intervertebral nuclei,HPO,phenotype,PHENOTYPE_16766
16767,16767,16767,16767,16767,16767,16767,16767,40328,Focal hyperintensity of cerebral white matter on MRI,HPO,phenotype,PHENOTYPE_16767
16768,16768,16768,16768,16768,16768,16768,16768,100783,Breast aplasia,HPO,phenotype,PHENOTYPE_16768
16769,16769,16769,16769,16769,16769,16769,16769,6000116,Elevated urinary deoxyuridine level,HPO,phenotype,PHENOTYPE_16769
16770,16770,16770,16770,16770,16770,16770,16770,1473,Metatarsal osteolysis,HPO,phenotype,PHENOTYPE_16770
16771,16771,16771,16771,16771,16771,16771,16771,31603,Impaired nasal mucociliary clearance,HPO,phenotype,PHENOTYPE_16771
16772,16772,16772,16772,16772,16772,16772,16772,9208,Irregular epiphysis of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_16772
16773,16773,16773,16773,16773,16773,16773,16773,30787,Cerumen abnormality,HPO,phenotype,PHENOTYPE_16773
16774,16774,16774,16774,16774,16774,16774,16774,10789,Abnormality of the Leydig cells,HPO,phenotype,PHENOTYPE_16774
16775,16775,16775,16775,16775,16775,16775,16775,7239,Congenital encephalopathy,HPO,phenotype,PHENOTYPE_16775
16776,16776,16776,16776,16776,16776,16776,16776,34106,Anti-Su antigen/argonaute 2 antibody positivity,HPO,phenotype,PHENOTYPE_16776
16777,16777,16777,16777,16777,16777,16777,16777,30024,Pretragal ectopia,HPO,phenotype,PHENOTYPE_16777
16778,16778,16778,16778,16778,16778,16778,16778,500020,Abnormal cardiac biomarker test,HPO,phenotype,PHENOTYPE_16778
16779,16779,16779,16779,16779,16779,16779,16779,34477,Perihepatic adhesions,HPO,phenotype,PHENOTYPE_16779
16780,16780,16780,16780,16780,16780,16780,16780,11650,Bilateral ductus arteriosus,HPO,phenotype,PHENOTYPE_16780
16781,16781,16781,16781,16781,16781,16781,16781,100720,Hypoplasia of the ear cartilage,HPO,phenotype,PHENOTYPE_16781
16782,16782,16782,16782,16782,16782,16782,16782,40133,Abnormal circulating ferritin concentration,HPO,phenotype,PHENOTYPE_16782
16783,16783,16783,16783,16783,16783,16783,16783,100045,Bracket epiphyses of the 2nd toe,HPO,phenotype,PHENOTYPE_16783
16784,16784,16784,16784,16784,16784,16784,16784,33138,Right atrial thrombus,HPO,phenotype,PHENOTYPE_16784
16785,16785,16785,16785,16785,16785,16785,16785,8062,Aplasia/Hypoplasia affecting the anterior segment of the eye,HPO,phenotype,PHENOTYPE_16785
16786,16786,16786,16786,16786,16786,16786,16786,46505,Hand pain,HPO,phenotype,PHENOTYPE_16786
16787,16787,16787,16787,16787,16787,16787,16787,30713,Vein of Galen aneurysmal malformation,HPO,phenotype,PHENOTYPE_16787
16788,16788,16788,16788,16788,16788,16788,16788,20194,IgA heavy chain paraproteinemia,HPO,phenotype,PHENOTYPE_16788
16789,16789,16789,16789,16789,16789,16789,16789,6000862,Parotid adenoma,HPO,phenotype,PHENOTYPE_16789
16790,16790,16790,16790,16790,16790,16790,16790,20246,Lymph-node follicular lysis,HPO,phenotype,PHENOTYPE_16790
16791,16791,16791,16791,16791,16791,16791,16791,199,Tongue nodules,HPO,phenotype,PHENOTYPE_16791
16792,16792,16792,16792,16792,16792,16792,16792,11497,Rubeosis iridis,HPO,phenotype,PHENOTYPE_16792
16793,16793,16793,16793,16793,16793,16793,16793,20190,Perisylvian predominant thick cortex pachygyria,HPO,phenotype,PHENOTYPE_16793
16794,16794,16794,16794,16794,16794,16794,16794,25690,Fetal intra-abdominal umbilical vein varix,HPO,phenotype,PHENOTYPE_16794
16795,16795,16795,16795,16795,16795,16795,16795,31388,Megakaryocyte nucleus hyperlobulation,HPO,phenotype,PHENOTYPE_16795
16796,16796,16796,16796,16796,16796,16796,16796,11166,Focal myoclonic seizure,HPO,phenotype,PHENOTYPE_16796
16797,16797,16797,16797,16797,16797,16797,16797,10099,Partial duplication of the 1st metatarsal,HPO,phenotype,PHENOTYPE_16797
16798,16798,16798,16798,16798,16798,16798,16798,30802,Lower eyelid retraction,HPO,phenotype,PHENOTYPE_16798
16799,16799,16799,16799,16799,16799,16799,16799,1983,Reduced lymphocyte surface expression of CD43,HPO,phenotype,PHENOTYPE_16799
16800,16800,16800,16800,16800,16800,16800,16800,6818,4-layered lissencephaly,HPO,phenotype,PHENOTYPE_16800
16801,16801,16801,16801,16801,16801,16801,16801,32396,Transmantle columnar heterotopia,HPO,phenotype,PHENOTYPE_16801
16802,16802,16802,16802,16802,16802,16802,16802,33197,Hepatic lobular inflammation,HPO,phenotype,PHENOTYPE_16802
16803,16803,16803,16803,16803,16803,16803,16803,25754,Reduced beta-hexosaminidase A activity,HPO,phenotype,PHENOTYPE_16803
16804,16804,16804,16804,16804,16804,16804,16804,10622,Neoplasm of the skeletal system,HPO,phenotype,PHENOTYPE_16804
16805,16805,16805,16805,16805,16805,16805,16805,5613,Aplasia/hypoplasia of the femur,HPO,phenotype,PHENOTYPE_16805
16806,16806,16806,16806,16806,16806,16806,16806,740,Episodic paroxysmal anxiety,HPO,phenotype,PHENOTYPE_16806
16807,16807,16807,16807,16807,16807,16807,16807,5979,Metabolic ketoacidosis,HPO,phenotype,PHENOTYPE_16807
16808,16808,16808,16808,16808,16808,16808,16808,20184,Decreased circulating A-type natriuretic peptide concentration,HPO,phenotype,PHENOTYPE_16808
16809,16809,16809,16809,16809,16809,16809,16809,6000099,Airway mucosal thickening,HPO,phenotype,PHENOTYPE_16809
16810,16810,16810,16810,16810,16810,16810,16810,5200027,Infrequent social initiations,HPO,phenotype,PHENOTYPE_16810
16811,16811,16811,16811,16811,16811,16811,16811,6000324,Positive stool Giardia antigen test,HPO,phenotype,PHENOTYPE_16811
16812,16812,16812,16812,16812,16812,16812,16812,10491,Digital constriction ring,HPO,phenotype,PHENOTYPE_16812
16813,16813,16813,16813,16813,16813,16813,16813,9060,Scapular muscle atrophy,HPO,phenotype,PHENOTYPE_16813
16814,16814,16814,16814,16814,16814,16814,16814,1876,Pancytopenia,HPO,phenotype,PHENOTYPE_16814
16815,16815,16815,16815,16815,16815,16815,16815,30247,Splanchnic vein thrombosis,HPO,phenotype,PHENOTYPE_16815
16816,16816,16816,16816,16816,16816,16816,16816,6000588,Periosteal elevation,HPO,phenotype,PHENOTYPE_16816
16817,16817,16817,16817,16817,16817,16817,16817,33533,Increased cardiac output,HPO,phenotype,PHENOTYPE_16817
16818,16818,16818,16818,16818,16818,16818,16818,9237,Short 5th finger,HPO,phenotype,PHENOTYPE_16818
16819,16819,16819,16819,16819,16819,16819,16819,4736,Crossed fused renal ectopia,HPO,phenotype,PHENOTYPE_16819
16820,16820,16820,16820,16820,16820,16820,16820,430056,Anti-chikungunya virus antibody positivity,HPO,phenotype,PHENOTYPE_16820
16821,16821,16821,16821,16821,16821,16821,16821,10614,Fibroma,HPO,phenotype,PHENOTYPE_16821
16822,16822,16822,16822,16822,16822,16822,16822,6001132,Elbow lateral collateral ligament tear,HPO,phenotype,PHENOTYPE_16822
16823,16823,16823,16823,16823,16823,16823,16823,6000639,PAS-positive lymphocyte vacuolization,HPO,phenotype,PHENOTYPE_16823
16824,16824,16824,16824,16824,16824,16824,16824,2464,Spastic dysarthria,HPO,phenotype,PHENOTYPE_16824
16825,16825,16825,16825,16825,16825,16825,16825,9384,Cone-shaped epiphyses of the 5th finger,HPO,phenotype,PHENOTYPE_16825
16826,16826,16826,16826,16826,16826,16826,16826,6886,Impaired distal vibration sensation,HPO,phenotype,PHENOTYPE_16826
16827,16827,16827,16827,16827,16827,16827,16827,30559,Best corrected visual acuity 0.7 LogMAR,HPO,phenotype,PHENOTYPE_16827
16828,16828,16828,16828,16828,16828,16828,16828,5201006,Incomplete cleft soft palate,HPO,phenotype,PHENOTYPE_16828
16829,16829,16829,16829,16829,16829,16829,16829,34288,Elevated circulating reverse T3 concentration,HPO,phenotype,PHENOTYPE_16829
16830,16830,16830,16830,16830,16830,16830,16830,5432,Transient hypogammaglobulinemia of infancy,HPO,phenotype,PHENOTYPE_16830
16831,16831,16831,16831,16831,16831,16831,16831,11217,Abnormal shape of the occiput,HPO,phenotype,PHENOTYPE_16831
16832,16832,16832,16832,16832,16832,16832,16832,34421,Ejection click,HPO,phenotype,PHENOTYPE_16832
16833,16833,16833,16833,16833,16833,16833,16833,37,Male pseudohermaphroditism,HPO,phenotype,PHENOTYPE_16833
16834,16834,16834,16834,16834,16834,16834,16834,2743,Recurrent enteroviral infections,HPO,phenotype,PHENOTYPE_16834
16835,16835,16835,16835,16835,16835,16835,16835,10116,Enlarged epiphyses of the hallux,HPO,phenotype,PHENOTYPE_16835
16836,16836,16836,16836,16836,16836,16836,16836,243,Trigonocephaly,HPO,phenotype,PHENOTYPE_16836
16837,16837,16837,16837,16837,16837,16837,16837,4809,Neonatal alloimmune thrombocytopenia,HPO,phenotype,PHENOTYPE_16837
16838,16838,16838,16838,16838,16838,16838,16838,5941,Intermittent hyperpnea at rest,HPO,phenotype,PHENOTYPE_16838
16839,16839,16839,16839,16839,16839,16839,16839,1540,Diastasis recti,HPO,phenotype,PHENOTYPE_16839
16840,16840,16840,16840,16840,16840,16840,16840,12532,Chronic pain,HPO,phenotype,PHENOTYPE_16840
16841,16841,16841,16841,16841,16841,16841,16841,30622,Abnormal foveal pit on macular OCT,HPO,phenotype,PHENOTYPE_16841
16842,16842,16842,16842,16842,16842,16842,16842,6001067,Triggered by high protein intake,HPO,phenotype,PHENOTYPE_16842
16843,16843,16843,16843,16843,16843,16843,16843,5525,Spontaneous hemolytic crises,HPO,phenotype,PHENOTYPE_16843
16844,16844,16844,16844,16844,16844,16844,16844,100282,Acute colitis,HPO,phenotype,PHENOTYPE_16844
16845,16845,16845,16845,16845,16845,16845,16845,7401,Macular atrophy,HPO,phenotype,PHENOTYPE_16845
16846,16846,16846,16846,16846,16846,16846,16846,6000395,Positive CSF VDRL test,HPO,phenotype,PHENOTYPE_16846
16847,16847,16847,16847,16847,16847,16847,16847,9115,Aplasia/hypoplasia involving the skeleton,HPO,phenotype,PHENOTYPE_16847
16848,16848,16848,16848,16848,16848,16848,16848,25175,Honeycomb lung,HPO,phenotype,PHENOTYPE_16848
16849,16849,16849,16849,16849,16849,16849,16849,34259,Hypoplasia of the midbrain,HPO,phenotype,PHENOTYPE_16849
16850,16850,16850,16850,16850,16850,16850,16850,33528,Abnormal cardiac output,HPO,phenotype,PHENOTYPE_16850
16851,16851,16851,16851,16851,16851,16851,16851,11057,Agenesis of second permanent molar,HPO,phenotype,PHENOTYPE_16851
16852,16852,16852,16852,16852,16852,16852,16852,100269,Paramedian lip pit,HPO,phenotype,PHENOTYPE_16852
16853,16853,16853,16853,16853,16853,16853,16853,32271,Extrapulmonary tuberculosis,HPO,phenotype,PHENOTYPE_16853
16854,16854,16854,16854,16854,16854,16854,16854,1533,Slender build,HPO,phenotype,PHENOTYPE_16854
16855,16855,16855,16855,16855,16855,16855,16855,40033,Aplasia/Hypoplasia of the fifth metatarsal bone,HPO,phenotype,PHENOTYPE_16855
16856,16856,16856,16856,16856,16856,16856,16856,1080,Biliary tract abnormality,HPO,phenotype,PHENOTYPE_16856
16857,16857,16857,16857,16857,16857,16857,16857,200049,Upper limb hypertonia,HPO,phenotype,PHENOTYPE_16857
16858,16858,16858,16858,16858,16858,16858,16858,410231,Increased anti-egg IgE antibody level,HPO,phenotype,PHENOTYPE_16858
16859,16859,16859,16859,16859,16859,16859,16859,30277,Abnormal vertebral pedicle morphology,HPO,phenotype,PHENOTYPE_16859
16860,16860,16860,16860,16860,16860,16860,16860,41239,Fractured thumb phalanx,HPO,phenotype,PHENOTYPE_16860
16861,16861,16861,16861,16861,16861,16861,16861,10162,Absent epiphyses of the toes,HPO,phenotype,PHENOTYPE_16861
16862,16862,16862,16862,16862,16862,16862,16862,40148,Cortical myoclonus,HPO,phenotype,PHENOTYPE_16862
16863,16863,16863,16863,16863,16863,16863,16863,32667,Myoclonic status epilepticus,HPO,phenotype,PHENOTYPE_16863
16864,16864,16864,16864,16864,16864,16864,16864,33065,Mild albuminuria,HPO,phenotype,PHENOTYPE_16864
16865,16865,16865,16865,16865,16865,16865,16865,9138,Synostosis involving bones of the lower limbs,HPO,phenotype,PHENOTYPE_16865
16866,16866,16866,16866,16866,16866,16866,16866,1886,Foot osteomyelitis,HPO,phenotype,PHENOTYPE_16866
16867,16867,16867,16867,16867,16867,16867,16867,20174,Refractory drug response,HPO,phenotype,PHENOTYPE_16867
16868,16868,16868,16868,16868,16868,16868,16868,6000957,Oral mucosal papule,HPO,phenotype,PHENOTYPE_16868
16869,16869,16869,16869,16869,16869,16869,16869,6994,Diffuse leukoencephalopathy,HPO,phenotype,PHENOTYPE_16869
16870,16870,16870,16870,16870,16870,16870,16870,100170,Bracket epiphysis of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_16870
16871,16871,16871,16871,16871,16871,16871,16871,31085,Decreased circulating prealbumin concentration,HPO,phenotype,PHENOTYPE_16871
16872,16872,16872,16872,16872,16872,16872,16872,430086,Anti-rubella antibody positivity,HPO,phenotype,PHENOTYPE_16872
16873,16873,16873,16873,16873,16873,16873,16873,410017,Otitis externa,HPO,phenotype,PHENOTYPE_16873
16874,16874,16874,16874,16874,16874,16874,16874,11223,Metopic depression,HPO,phenotype,PHENOTYPE_16874
16875,16875,16875,16875,16875,16875,16875,16875,6000723,Reduced erythrocyte galactokinase activity,HPO,phenotype,PHENOTYPE_16875
16876,16876,16876,16876,16876,16876,16876,16876,31389,Abnormal MHC II cell surface expression,HPO,phenotype,PHENOTYPE_16876
16877,16877,16877,16877,16877,16877,16877,16877,4000106,Spleen hamartoma,HPO,phenotype,PHENOTYPE_16877
16878,16878,16878,16878,16878,16878,16878,16878,20235,Effaced lymph-node architecture,HPO,phenotype,PHENOTYPE_16878
16879,16879,16879,16879,16879,16879,16879,16879,9255,Irregular epiphysis of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_16879
16880,16880,16880,16880,16880,16880,16880,16880,34344,Female-limited expression,HPO,phenotype,PHENOTYPE_16880
16881,16881,16881,16881,16881,16881,16881,16881,30405,Pancreatic endocrine tumor,HPO,phenotype,PHENOTYPE_16881
16882,16882,16882,16882,16882,16882,16882,16882,30018,Decreased female libido,HPO,phenotype,PHENOTYPE_16882
16883,16883,16883,16883,16883,16883,16883,16883,430134,Bartholin cyst,HPO,phenotype,PHENOTYPE_16883
16884,16884,16884,16884,16884,16884,16884,16884,100729,Large face,HPO,phenotype,PHENOTYPE_16884
16885,16885,16885,16885,16885,16885,16885,16885,275,Narrow face,HPO,phenotype,PHENOTYPE_16885
16886,16886,16886,16886,16886,16886,16886,16886,2982,Tibial bowing,HPO,phenotype,PHENOTYPE_16886
16887,16887,16887,16887,16887,16887,16887,16887,3808,Abnormal muscle tone,HPO,phenotype,PHENOTYPE_16887
16888,16888,16888,16888,16888,16888,16888,16888,31997,Early inspiratory crackles,HPO,phenotype,PHENOTYPE_16888
16889,16889,16889,16889,16889,16889,16889,16889,5101,High-frequency hearing impairment,HPO,phenotype,PHENOTYPE_16889
16890,16890,16890,16890,16890,16890,16890,16890,40243,Prolonged euglobulin clot lysis time,HPO,phenotype,PHENOTYPE_16890
16891,16891,16891,16891,16891,16891,16891,16891,30218,Punding,HPO,phenotype,PHENOTYPE_16891
16892,16892,16892,16892,16892,16892,16892,16892,30472,Abnormal light-adapted single flash electroretinogram,HPO,phenotype,PHENOTYPE_16892
16893,16893,16893,16893,16893,16893,16893,16893,31615,Hypopyon,HPO,phenotype,PHENOTYPE_16893
16894,16894,16894,16894,16894,16894,16894,16894,10942,Echogenic intracardiac focus,HPO,phenotype,PHENOTYPE_16894
16895,16895,16895,16895,16895,16895,16895,16895,34596,Elevated ciculating 5-hydroxymethyluracil concentration,HPO,phenotype,PHENOTYPE_16895
16896,16896,16896,16896,16896,16896,16896,16896,11696,Supraventricular tachycardia with a manifest accessory pathway on the left free wall,HPO,phenotype,PHENOTYPE_16896
16897,16897,16897,16897,16897,16897,16897,16897,3000016,Abnormality of styloglossus muscle,HPO,phenotype,PHENOTYPE_16897
16898,16898,16898,16898,16898,16898,16898,16898,9300,Aplasia/Hypoplasia of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_16898
16899,16899,16899,16899,16899,16899,16899,16899,5548,Megakaryocytopenia,HPO,phenotype,PHENOTYPE_16899
16900,16900,16900,16900,16900,16900,16900,16900,2846,Abnormal B cell morphology,HPO,phenotype,PHENOTYPE_16900
16901,16901,16901,16901,16901,16901,16901,16901,2349,Focal aware seizure,HPO,phenotype,PHENOTYPE_16901
16902,16902,16902,16902,16902,16902,16902,16902,11035,Abnormal renal cortex morphology,HPO,phenotype,PHENOTYPE_16902
16903,16903,16903,16903,16903,16903,16903,16903,6001170,Limited shoulder internal rotation,HPO,phenotype,PHENOTYPE_16903
16904,16904,16904,16904,16904,16904,16904,16904,7390,Hyperkeratosis with erythema,HPO,phenotype,PHENOTYPE_16904
16905,16905,16905,16905,16905,16905,16905,16905,12187,Increased erythrocyte protoporphyrin concentration,HPO,phenotype,PHENOTYPE_16905
16906,16906,16906,16906,16906,16906,16906,16906,500050,Retinopathy of prematurity stage 1,HPO,phenotype,PHENOTYPE_16906
16907,16907,16907,16907,16907,16907,16907,16907,8434,Hypoplastic cervical vertebrae,HPO,phenotype,PHENOTYPE_16907
16908,16908,16908,16908,16908,16908,16908,16908,3948,Irregular epiphyses of the elbow,HPO,phenotype,PHENOTYPE_16908
16909,16909,16909,16909,16909,16909,16909,16909,2410,Aqueductal stenosis,HPO,phenotype,PHENOTYPE_16909
16910,16910,16910,16910,16910,16910,16910,16910,410191,Increased glucose-6-phosphate dehydrogenase level in leukocytes,HPO,phenotype,PHENOTYPE_16910
16911,16911,16911,16911,16911,16911,16911,16911,410274,Paraspinal hemangioma,HPO,phenotype,PHENOTYPE_16911
16912,16912,16912,16912,16912,16912,16912,16912,3466,Paradoxical increased cortisol secretion on dexamethasone suppression test,HPO,phenotype,PHENOTYPE_16912
16913,16913,16913,16913,16913,16913,16913,16913,34227,Aortic isthmus hypoplasia,HPO,phenotype,PHENOTYPE_16913
16914,16914,16914,16914,16914,16914,16914,16914,8843,Hip osteoarthritis,HPO,phenotype,PHENOTYPE_16914
16915,16915,16915,16915,16915,16915,16915,16915,11215,Hemihypsarrhythmia,HPO,phenotype,PHENOTYPE_16915
16916,16916,16916,16916,16916,16916,16916,16916,100650,Vaginal neoplasm,HPO,phenotype,PHENOTYPE_16916
16917,16917,16917,16917,16917,16917,16917,16917,8142,Delayed calcaneal ossification,HPO,phenotype,PHENOTYPE_16917
16918,16918,16918,16918,16918,16918,16918,16918,2181,Cerebral edema,HPO,phenotype,PHENOTYPE_16918
16919,16919,16919,16919,16919,16919,16919,16919,4041,Cupped ulnar metaphysis,HPO,phenotype,PHENOTYPE_16919
16920,16920,16920,16920,16920,16920,16920,16920,31726,Incyclotropia,HPO,phenotype,PHENOTYPE_16920
16921,16921,16921,16921,16921,16921,16921,16921,33039,Increased circulating precipitin level,HPO,phenotype,PHENOTYPE_16921
16922,16922,16922,16922,16922,16922,16922,16922,100540,Palpebral edema,HPO,phenotype,PHENOTYPE_16922
16923,16923,16923,16923,16923,16923,16923,16923,12889,Cervical endometriosis,HPO,phenotype,PHENOTYPE_16923
16924,16924,16924,16924,16924,16924,16924,16924,100625,Enlarged thorax,HPO,phenotype,PHENOTYPE_16924
16925,16925,16925,16925,16925,16925,16925,16925,33149,Intrahepatic bile duct dilatation,HPO,phenotype,PHENOTYPE_16925
16926,16926,16926,16926,16926,16926,16926,16926,32113,Semidominant inheritance,HPO,phenotype,PHENOTYPE_16926
16927,16927,16927,16927,16927,16927,16927,16927,2959,Impaired Ig class switch recombination,HPO,phenotype,PHENOTYPE_16927
16928,16928,16928,16928,16928,16928,16928,16928,12597,Heavy proteinuria,HPO,phenotype,PHENOTYPE_16928
16929,16929,16929,16929,16929,16929,16929,16929,34522,Eosinophilic lymph node infiltration,HPO,phenotype,PHENOTYPE_16929
16930,16930,16930,16930,16930,16930,16930,16930,4589,Dysplasia of second lumbar vertebra,HPO,phenotype,PHENOTYPE_16930
16931,16931,16931,16931,16931,16931,16931,16931,30150,Plasmacytosis,HPO,phenotype,PHENOTYPE_16931
16932,16932,16932,16932,16932,16932,16932,16932,11131,Perianal dermatitis,HPO,phenotype,PHENOTYPE_16932
16933,16933,16933,16933,16933,16933,16933,16933,11840,Abnormality of T cell physiology,HPO,phenotype,PHENOTYPE_16933
16934,16934,16934,16934,16934,16934,16934,16934,6000636,Exposure to cosmetic fragrances,HPO,phenotype,PHENOTYPE_16934
16935,16935,16935,16935,16935,16935,16935,16935,6001194,Limited shoulder external rotation,HPO,phenotype,PHENOTYPE_16935
16936,16936,16936,16936,16936,16936,16936,16936,34785,Vasculitis by histology,HPO,phenotype,PHENOTYPE_16936
16937,16937,16937,16937,16937,16937,16937,16937,11265,Cleft earlobe,HPO,phenotype,PHENOTYPE_16937
16938,16938,16938,16938,16938,16938,16938,16938,32507,Labiomental fasciculations,HPO,phenotype,PHENOTYPE_16938
16939,16939,16939,16939,16939,16939,16939,16939,12807,High insertion of columella,HPO,phenotype,PHENOTYPE_16939
16940,16940,16940,16940,16940,16940,16940,16940,30428,Cutaneous myxoma,HPO,phenotype,PHENOTYPE_16940
16941,16941,16941,16941,16941,16941,16941,16941,45057,Decreased circulating alpha-fetoprotein concentration,HPO,phenotype,PHENOTYPE_16941
16942,16942,16942,16942,16942,16942,16942,16942,2733,Abnormal lymph node morphology,HPO,phenotype,PHENOTYPE_16942
16943,16943,16943,16943,16943,16943,16943,16943,2007,Frontal bossing,HPO,phenotype,PHENOTYPE_16943
16944,16944,16944,16944,16944,16944,16944,16944,100676,Vaginal lymphocele,HPO,phenotype,PHENOTYPE_16944
16945,16945,16945,16945,16945,16945,16945,16945,2681,Deformed sella turcica,HPO,phenotype,PHENOTYPE_16945
16946,16946,16946,16946,16946,16946,16946,16946,34915,Abnormal anus morphology,HPO,phenotype,PHENOTYPE_16946
16947,16947,16947,16947,16947,16947,16947,16947,410351,Abnormal complex N-glycan level,HPO,phenotype,PHENOTYPE_16947
16948,16948,16948,16948,16948,16948,16948,16948,3642,Type I transferrin isoform profile,HPO,phenotype,PHENOTYPE_16948
16949,16949,16949,16949,16949,16949,16949,16949,34118,Anti-GM1 IgM antibody positivity,HPO,phenotype,PHENOTYPE_16949
16950,16950,16950,16950,16950,16950,16950,16950,430062,Anti-Japanese encephalitis virus-specific antibody positivity,HPO,phenotype,PHENOTYPE_16950
16951,16951,16951,16951,16951,16951,16951,16951,2206,Pulmonary fibrosis,HPO,phenotype,PHENOTYPE_16951
16952,16952,16952,16952,16952,16952,16952,16952,9443,Osteolytic defects of the phalanges of the 3rd finger,HPO,phenotype,PHENOTYPE_16952
16953,16953,16953,16953,16953,16953,16953,16953,10501,Limitation of knee mobility,HPO,phenotype,PHENOTYPE_16953
16954,16954,16954,16954,16954,16954,16954,16954,436,Abnormal nasal tip morphology,HPO,phenotype,PHENOTYPE_16954
16955,16955,16955,16955,16955,16955,16955,16955,32027,Retinal dots,HPO,phenotype,PHENOTYPE_16955
16956,16956,16956,16956,16956,16956,16956,16956,10291,Prominent palatine ridges,HPO,phenotype,PHENOTYPE_16956
16957,16957,16957,16957,16957,16957,16957,16957,4000034,Infection-associated lymphopenia,HPO,phenotype,PHENOTYPE_16957
16958,16958,16958,16958,16958,16958,16958,16958,500267,Abnormal proportion of CD4-positive helper T cells,HPO,phenotype,PHENOTYPE_16958
16959,16959,16959,16959,16959,16959,16959,16959,8845,Mesomelic short stature,HPO,phenotype,PHENOTYPE_16959
16960,16960,16960,16960,16960,16960,16960,16960,34209,Fetal subependymal hemorrhage,HPO,phenotype,PHENOTYPE_16960
16961,16961,16961,16961,16961,16961,16961,16961,33420,Pulmonary arterial plexiform lesion,HPO,phenotype,PHENOTYPE_16961
16962,16962,16962,16962,16962,16962,16962,16962,9598,Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal,HPO,phenotype,PHENOTYPE_16962
16963,16963,16963,16963,16963,16963,16963,16963,6573,Acute hepatic steatosis,HPO,phenotype,PHENOTYPE_16963
16964,16964,16964,16964,16964,16964,16964,16964,9713,Spinal hemangioblastoma,HPO,phenotype,PHENOTYPE_16964
16965,16965,16965,16965,16965,16965,16965,16965,4000094,Corpus cavernosum hypoplasia,HPO,phenotype,PHENOTYPE_16965
16966,16966,16966,16966,16966,16966,16966,16966,2465,Poor speech,HPO,phenotype,PHENOTYPE_16966
16967,16967,16967,16967,16967,16967,16967,16967,9965,Complete duplication of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_16967
16968,16968,16968,16968,16968,16968,16968,16968,5180,Tricuspid regurgitation,HPO,phenotype,PHENOTYPE_16968
16969,16969,16969,16969,16969,16969,16969,16969,2630,Fat malabsorption,HPO,phenotype,PHENOTYPE_16969
16970,16970,16970,16970,16970,16970,16970,16970,10877,Monocular strabismus,HPO,phenotype,PHENOTYPE_16970
16971,16971,16971,16971,16971,16971,16971,16971,31212,Abnormal circulating progesterone level,HPO,phenotype,PHENOTYPE_16971
16972,16972,16972,16972,16972,16972,16972,16972,34112,Anti-GM1 IgG antibody positivity,HPO,phenotype,PHENOTYPE_16972
16973,16973,16973,16973,16973,16973,16973,16973,30577,Pinhole visual acuity 0.9 LogMAR,HPO,phenotype,PHENOTYPE_16973
16974,16974,16974,16974,16974,16974,16974,16974,33014,Decreased salivary cortisol level,HPO,phenotype,PHENOTYPE_16974
16975,16975,16975,16975,16975,16975,16975,16975,11410,Caesarean section,HPO,phenotype,PHENOTYPE_16975
16976,16976,16976,16976,16976,16976,16976,16976,34926,Perivascular small intestinal hyaline deposition,HPO,phenotype,PHENOTYPE_16976
16977,16977,16977,16977,16977,16977,16977,16977,7866,Retinal infarction,HPO,phenotype,PHENOTYPE_16977
16978,16978,16978,16978,16978,16978,16978,16978,10314,Premature thelarche,HPO,phenotype,PHENOTYPE_16978
16979,16979,16979,16979,16979,16979,16979,16979,3393,Thenar muscle atrophy,HPO,phenotype,PHENOTYPE_16979
16980,16980,16980,16980,16980,16980,16980,16980,9184,Contracture of the distal interphalangeal joint of the 5th finger,HPO,phenotype,PHENOTYPE_16980
16981,16981,16981,16981,16981,16981,16981,16981,9026,Hypoplasia of latissimus dorsi muscle,HPO,phenotype,PHENOTYPE_16981
16982,16982,16982,16982,16982,16982,16982,16982,410199,Increased CSF urate concentration,HPO,phenotype,PHENOTYPE_16982
16983,16983,16983,16983,16983,16983,16983,16983,2079,Hypoplasia of the corpus callosum,HPO,phenotype,PHENOTYPE_16983
16984,16984,16984,16984,16984,16984,16984,16984,12695,Decreased thalamic volume,HPO,phenotype,PHENOTYPE_16984
16985,16985,16985,16985,16985,16985,16985,16985,20183,Increased circulating A-type natriuretic peptide concentration,HPO,phenotype,PHENOTYPE_16985
16986,16986,16986,16986,16986,16986,16986,16986,31707,Compensatory face turn to the right,HPO,phenotype,PHENOTYPE_16986
16987,16987,16987,16987,16987,16987,16987,16987,9171,Triangular epiphyses of the metacarpals,HPO,phenotype,PHENOTYPE_16987
16988,16988,16988,16988,16988,16988,16988,16988,32693,Focal cognitive seizure with neglect,HPO,phenotype,PHENOTYPE_16988
16989,16989,16989,16989,16989,16989,16989,16989,6606,Irregular chondrocostal junctions,HPO,phenotype,PHENOTYPE_16989
16990,16990,16990,16990,16990,16990,16990,16990,40046,Abnormal left hemidiaphragm morphology,HPO,phenotype,PHENOTYPE_16990
16991,16991,16991,16991,16991,16991,16991,16991,34256,Absent dermoepidermal hemidesmosomes,HPO,phenotype,PHENOTYPE_16991
16992,16992,16992,16992,16992,16992,16992,16992,10422,Complete duplication of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_16992
16993,16993,16993,16993,16993,16993,16993,16993,34893,Elevated brain glycine level by MRS,HPO,phenotype,PHENOTYPE_16993
16994,16994,16994,16994,16994,16994,16994,16994,7460,Autoamputation of digits,HPO,phenotype,PHENOTYPE_16994
16995,16995,16995,16995,16995,16995,16995,16995,32607,Renal tubular epithelial cell swelling,HPO,phenotype,PHENOTYPE_16995
16996,16996,16996,16996,16996,16996,16996,16996,7941,Limited extraocular movements,HPO,phenotype,PHENOTYPE_16996
16997,16997,16997,16997,16997,16997,16997,16997,100763,Abnormality of the lymphatic system,HPO,phenotype,PHENOTYPE_16997
16998,16998,16998,16998,16998,16998,16998,16998,25709,Intermediate young adult onset,HPO,phenotype,PHENOTYPE_16998
16999,16999,16999,16999,16999,16999,16999,16999,33081,Absent TSH response to thyrotrophin-releasing hormone stimulation test,HPO,phenotype,PHENOTYPE_16999
17000,17000,17000,17000,17000,17000,17000,17000,1980,Megaloblastic bone marrow,HPO,phenotype,PHENOTYPE_17000
17001,17001,17001,17001,17001,17001,17001,17001,34703,Keratinocyte vacuolization,HPO,phenotype,PHENOTYPE_17001
17002,17002,17002,17002,17002,17002,17002,17002,7554,Confetti hypopigmentation pattern of lower leg skin,HPO,phenotype,PHENOTYPE_17002
17003,17003,17003,17003,17003,17003,17003,17003,6956,Lateral ventricle dilatation,HPO,phenotype,PHENOTYPE_17003
17004,17004,17004,17004,17004,17004,17004,17004,33045,Bipedal edema,HPO,phenotype,PHENOTYPE_17004
17005,17005,17005,17005,17005,17005,17005,17005,30311,Lower extremity joint dislocation,HPO,phenotype,PHENOTYPE_17005
17006,17006,17006,17006,17006,17006,17006,17006,32018,Multiple mononeuropathy,HPO,phenotype,PHENOTYPE_17006
17007,17007,17007,17007,17007,17007,17007,17007,6000000,Left-right disorientation,HPO,phenotype,PHENOTYPE_17007
17008,17008,17008,17008,17008,17008,17008,17008,6001181,Choroid thickening,HPO,phenotype,PHENOTYPE_17008
17009,17009,17009,17009,17009,17009,17009,17009,6000909,Positive stool Cryptosporidium antigen test,HPO,phenotype,PHENOTYPE_17009
17010,17010,17010,17010,17010,17010,17010,17010,1934,Persistent bleeding after trauma,HPO,phenotype,PHENOTYPE_17010
17011,17011,17011,17011,17011,17011,17011,17011,331,Short chin,HPO,phenotype,PHENOTYPE_17011
17012,17012,17012,17012,17012,17012,17012,17012,30849,Hepatojugular reflux,HPO,phenotype,PHENOTYPE_17012
17013,17013,17013,17013,17013,17013,17013,17013,34592,Elevated circulating beta-aminoisobutyric acid concentration,HPO,phenotype,PHENOTYPE_17013
17014,17014,17014,17014,17014,17014,17014,17014,10593,Abnormal fibular epiphysis morphology,HPO,phenotype,PHENOTYPE_17014
17015,17015,17015,17015,17015,17015,17015,17015,2454,Eye of the tiger anomaly of globus pallidus,HPO,phenotype,PHENOTYPE_17015
17016,17016,17016,17016,17016,17016,17016,17016,500265,"Increased proportion of CD8-positive, alpha-beta TEMRA T cells",HPO,phenotype,PHENOTYPE_17016
17017,17017,17017,17017,17017,17017,17017,17017,1241,Capitate-hamate fusion,HPO,phenotype,PHENOTYPE_17017
17018,17018,17018,17018,17018,17018,17018,17018,7069,Profound static encephalopathy,HPO,phenotype,PHENOTYPE_17018
17019,17019,17019,17019,17019,17019,17019,17019,6000121,Elevated urinary xanthurenic acid level,HPO,phenotype,PHENOTYPE_17019
17020,17020,17020,17020,17020,17020,17020,17020,8153,Periodic hypokalemic paresis,HPO,phenotype,PHENOTYPE_17020
17021,17021,17021,17021,17021,17021,17021,17021,4274,Deficient ossification of hand bones,HPO,phenotype,PHENOTYPE_17021
17022,17022,17022,17022,17022,17022,17022,17022,12678,Iron accumulation in substantia nigra,HPO,phenotype,PHENOTYPE_17022
17023,17023,17023,17023,17023,17023,17023,17023,31450,Polycyclic,HPO,phenotype,PHENOTYPE_17023
17024,17024,17024,17024,17024,17024,17024,17024,32238,Increased circulating metamyelocyte count,HPO,phenotype,PHENOTYPE_17024
17025,17025,17025,17025,17025,17025,17025,17025,7054,Proximal hyperreflexia,HPO,phenotype,PHENOTYPE_17025
17026,17026,17026,17026,17026,17026,17026,17026,31796,Recurrent,HPO,phenotype,PHENOTYPE_17026
17027,17027,17027,17027,17027,17027,17027,17027,4016,Cupped radial metaphyses,HPO,phenotype,PHENOTYPE_17027
17028,17028,17028,17028,17028,17028,17028,17028,33268,Deflation of the glomerular tuft,HPO,phenotype,PHENOTYPE_17028
17029,17029,17029,17029,17029,17029,17029,17029,1633,Abnormal mitral valve morphology,HPO,phenotype,PHENOTYPE_17029
17030,17030,17030,17030,17030,17030,17030,17030,500095,Food-induced anaphylaxis,HPO,phenotype,PHENOTYPE_17030
17031,17031,17031,17031,17031,17031,17031,17031,5495,Metopic suture patent to nasal root,HPO,phenotype,PHENOTYPE_17031
17032,17032,17032,17032,17032,17032,17032,17032,30258,Hyperpigmented genitalia,HPO,phenotype,PHENOTYPE_17032
17033,17033,17033,17033,17033,17033,17033,17033,11301,Absent foot,HPO,phenotype,PHENOTYPE_17033
17034,17034,17034,17034,17034,17034,17034,17034,32082,Translamellar mucoid extracellular matrix accumulation,HPO,phenotype,PHENOTYPE_17034
17035,17035,17035,17035,17035,17035,17035,17035,100235,Synostosis involving bones of the toes,HPO,phenotype,PHENOTYPE_17035
17036,17036,17036,17036,17036,17036,17036,17036,8045,Enlarged flash visual evoked potentials,HPO,phenotype,PHENOTYPE_17036
17037,17037,17037,17037,17037,17037,17037,17037,25388,Thyroid nodule,HPO,phenotype,PHENOTYPE_17037
17038,17038,17038,17038,17038,17038,17038,17038,10420,Triangular shaped distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_17038
17039,17039,17039,17039,17039,17039,17039,17039,500245,Abnormal CSF citrulline concentration,HPO,phenotype,PHENOTYPE_17039
17040,17040,17040,17040,17040,17040,17040,17040,40013,Decreased mitochondrial number,HPO,phenotype,PHENOTYPE_17040
17041,17041,17041,17041,17041,17041,17041,17041,6000067,Increased myocardial pyrophosphate uptake,HPO,phenotype,PHENOTYPE_17041
17042,17042,17042,17042,17042,17042,17042,17042,32336,Increased circulating specific IgE antibody concentration,HPO,phenotype,PHENOTYPE_17042
17043,17043,17043,17043,17043,17043,17043,17043,100731,Transverse facial cleft,HPO,phenotype,PHENOTYPE_17043
17044,17044,17044,17044,17044,17044,17044,17044,7599,Generalized reticulate brown pigmentation,HPO,phenotype,PHENOTYPE_17044
17045,17045,17045,17045,17045,17045,17045,17045,100538,Abnormality of the supraorbital ridges,HPO,phenotype,PHENOTYPE_17045
17046,17046,17046,17046,17046,17046,17046,17046,1161,Hand polydactyly,HPO,phenotype,PHENOTYPE_17046
17047,17047,17047,17047,17047,17047,17047,17047,4275,Duplication of hand bones,HPO,phenotype,PHENOTYPE_17047
17048,17048,17048,17048,17048,17048,17048,17048,34756,Fetal exposure history,HPO,phenotype,PHENOTYPE_17048
17049,17049,17049,17049,17049,17049,17049,17049,34129,Anti-GT1a IgM antibody positivity,HPO,phenotype,PHENOTYPE_17049
17050,17050,17050,17050,17050,17050,17050,17050,5943,Respiratory arrest,HPO,phenotype,PHENOTYPE_17050
17051,17051,17051,17051,17051,17051,17051,17051,12401,Abnormal urine alpha-ketoglutarate concentration,HPO,phenotype,PHENOTYPE_17051
17052,17052,17052,17052,17052,17052,17052,17052,5200116,Difficulty understanding nonliteral meaning of conversation,HPO,phenotype,PHENOTYPE_17052
17053,17053,17053,17053,17053,17053,17053,17053,6896,Hypnopompic hallucination,HPO,phenotype,PHENOTYPE_17053
17054,17054,17054,17054,17054,17054,17054,17054,32310,Granulocytosis,HPO,phenotype,PHENOTYPE_17054
17055,17055,17055,17055,17055,17055,17055,17055,12593,Nephrotic range proteinuria,HPO,phenotype,PHENOTYPE_17055
17056,17056,17056,17056,17056,17056,17056,17056,5200040,Excessively quiet speech,HPO,phenotype,PHENOTYPE_17056
17057,17057,17057,17057,17057,17057,17057,17057,10759,Prominence of the premaxilla,HPO,phenotype,PHENOTYPE_17057
17058,17058,17058,17058,17058,17058,17058,17058,31145,Starry sky appearance on hepatic sonography,HPO,phenotype,PHENOTYPE_17058
17059,17059,17059,17059,17059,17059,17059,17059,32630,Intratubular light-chain casts,HPO,phenotype,PHENOTYPE_17059
17060,17060,17060,17060,17060,17060,17060,17060,500138,Hyperserinemia,HPO,phenotype,PHENOTYPE_17060
17061,17061,17061,17061,17061,17061,17061,17061,6000336,Rectal duplication,HPO,phenotype,PHENOTYPE_17061
17062,17062,17062,17062,17062,17062,17062,17062,930,Elevated imprint of the transverse sinuses,HPO,phenotype,PHENOTYPE_17062
17063,17063,17063,17063,17063,17063,17063,17063,835,Adrenal hypoplasia,HPO,phenotype,PHENOTYPE_17063
17064,17064,17064,17064,17064,17064,17064,17064,2058,Myopathic facies,HPO,phenotype,PHENOTYPE_17064
17065,17065,17065,17065,17065,17065,17065,17065,6000103,Precipitous labor,HPO,phenotype,PHENOTYPE_17065
17066,17066,17066,17066,17066,17066,17066,17066,3764,Nevus,HPO,phenotype,PHENOTYPE_17066
17067,17067,17067,17067,17067,17067,17067,17067,9937,Facial hirsutism,HPO,phenotype,PHENOTYPE_17067
17068,17068,17068,17068,17068,17068,17068,17068,971,Abnormal sweat gland morphology,HPO,phenotype,PHENOTYPE_17068
17069,17069,17069,17069,17069,17069,17069,17069,31932,Aorto-left ventricular tunnel,HPO,phenotype,PHENOTYPE_17069
17070,17070,17070,17070,17070,17070,17070,17070,25370,Abnormal ossification of the sacrum,HPO,phenotype,PHENOTYPE_17070
17071,17071,17071,17071,17071,17071,17071,17071,9098,Chronic oral candidiasis,HPO,phenotype,PHENOTYPE_17071
17072,17072,17072,17072,17072,17072,17072,17072,6000999,Elevated urinary mandelic acid,HPO,phenotype,PHENOTYPE_17072
17073,17073,17073,17073,17073,17073,17073,17073,7064,Progressive language deterioration,HPO,phenotype,PHENOTYPE_17073
17074,17074,17074,17074,17074,17074,17074,17074,410296,Complete or near-complete absence of specific antibody response to hepatitis B vaccine,HPO,phenotype,PHENOTYPE_17074
17075,17075,17075,17075,17075,17075,17075,17075,7646,Absent lower eyelashes,HPO,phenotype,PHENOTYPE_17075
17076,17076,17076,17076,17076,17076,17076,17076,34012,Palmoplantar hypohidrosis,HPO,phenotype,PHENOTYPE_17076
17077,17077,17077,17077,17077,17077,17077,17077,8326,Reduced circulating vitamin B6 circulating,HPO,phenotype,PHENOTYPE_17077
17078,17078,17078,17078,17078,17078,17078,17078,10993,Abnormal cerebral subcortex morphology,HPO,phenotype,PHENOTYPE_17078
17079,17079,17079,17079,17079,17079,17079,17079,1417,X-linked inheritance,HPO,phenotype,PHENOTYPE_17079
17080,17080,17080,17080,17080,17080,17080,17080,32201,Rotator cuff tear,HPO,phenotype,PHENOTYPE_17080
17081,17081,17081,17081,17081,17081,17081,17081,34448,Abnormal phytanic acid:pristanic acid ratio,HPO,phenotype,PHENOTYPE_17081
17082,17082,17082,17082,17082,17082,17082,17082,7566,Index finger dermatoglyphic radial loop,HPO,phenotype,PHENOTYPE_17082
17083,17083,17083,17083,17083,17083,17083,17083,8420,Punctate vertebral calcifications,HPO,phenotype,PHENOTYPE_17083
17084,17084,17084,17084,17084,17084,17084,17084,4000062,3-4 metacarpal synostosis,HPO,phenotype,PHENOTYPE_17084
17085,17085,17085,17085,17085,17085,17085,17085,30262,Narrow penis,HPO,phenotype,PHENOTYPE_17085
17086,17086,17086,17086,17086,17086,17086,17086,40241,Increased RIPA,HPO,phenotype,PHENOTYPE_17086
17087,17087,17087,17087,17087,17087,17087,17087,32527,Inferiorly positioned umbilicus,HPO,phenotype,PHENOTYPE_17087
17088,17088,17088,17088,17088,17088,17088,17088,7440,Generalized hyperpigmentation,HPO,phenotype,PHENOTYPE_17088
17089,17089,17089,17089,17089,17089,17089,17089,3853,Sclerosis with transverse striations in metaphyses of the upper limbs,HPO,phenotype,PHENOTYPE_17089
17090,17090,17090,17090,17090,17090,17090,17090,11519,Anomalous trichromacy,HPO,phenotype,PHENOTYPE_17090
17091,17091,17091,17091,17091,17091,17091,17091,4000177,Bleeding ameliorated by vitamin K,HPO,phenotype,PHENOTYPE_17091
17092,17092,17092,17092,17092,17092,17092,17092,410289,Hypoamylasemia,HPO,phenotype,PHENOTYPE_17092
17093,17093,17093,17093,17093,17093,17093,17093,3678,Rapidly progressive,HPO,phenotype,PHENOTYPE_17093
17094,17094,17094,17094,17094,17094,17094,17094,3880,Sclerotic foci of the humerus,HPO,phenotype,PHENOTYPE_17094
17095,17095,17095,17095,17095,17095,17095,17095,5093,Absent proximal radial epiphyses,HPO,phenotype,PHENOTYPE_17095
17096,17096,17096,17096,17096,17096,17096,17096,815,Hypergonadotropic hypogonadism,HPO,phenotype,PHENOTYPE_17096
17097,17097,17097,17097,17097,17097,17097,17097,10763,Low insertion of columella,HPO,phenotype,PHENOTYPE_17097
17098,17098,17098,17098,17098,17098,17098,17098,916,Broad clavicles,HPO,phenotype,PHENOTYPE_17098
17099,17099,17099,17099,17099,17099,17099,17099,4000124,High dietary oxalate intake,HPO,phenotype,PHENOTYPE_17099
17100,17100,17100,17100,17100,17100,17100,17100,5000022,Anti-Ma2 antibody positivity,HPO,phenotype,PHENOTYPE_17100
17101,17101,17101,17101,17101,17101,17101,17101,12433,Abnormal social behavior,HPO,phenotype,PHENOTYPE_17101
17102,17102,17102,17102,17102,17102,17102,17102,12854,Midshaft hypospadias,HPO,phenotype,PHENOTYPE_17102
17103,17103,17103,17103,17103,17103,17103,17103,25242,Dot-and-blot retinal hemorrhage,HPO,phenotype,PHENOTYPE_17103
17104,17104,17104,17104,17104,17104,17104,17104,10429,Complete duplication of the phalanges of the 2nd toe,HPO,phenotype,PHENOTYPE_17104
17105,17105,17105,17105,17105,17105,17105,17105,1837,Broad toe,HPO,phenotype,PHENOTYPE_17105
17106,17106,17106,17106,17106,17106,17106,17106,31752,Lateral rectus muscle overaction,HPO,phenotype,PHENOTYPE_17106
17107,17107,17107,17107,17107,17107,17107,17107,1788,Premature rupture of membranes,HPO,phenotype,PHENOTYPE_17107
17108,17108,17108,17108,17108,17108,17108,17108,25104,Capillary malformation,HPO,phenotype,PHENOTYPE_17108
17109,17109,17109,17109,17109,17109,17109,17109,40253,Increased size of the clitoris,HPO,phenotype,PHENOTYPE_17109
17110,17110,17110,17110,17110,17110,17110,17110,100094,Abnormality of the epiphysis of the distal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_17110
17111,17111,17111,17111,17111,17111,17111,17111,500032,Abnormal neuron branching,HPO,phenotype,PHENOTYPE_17111
17112,17112,17112,17112,17112,17112,17112,17112,34067,Tonofilament clumping,HPO,phenotype,PHENOTYPE_17112
17113,17113,17113,17113,17113,17113,17113,17113,41215,Fractured fused metatarsal bones 2-4,HPO,phenotype,PHENOTYPE_17113
17114,17114,17114,17114,17114,17114,17114,17114,33583,Follicular bronchiolitis,HPO,phenotype,PHENOTYPE_17114
17115,17115,17115,17115,17115,17115,17115,17115,121,Nephrocalcinosis,HPO,phenotype,PHENOTYPE_17115
17116,17116,17116,17116,17116,17116,17116,17116,25584,Hypotropia,HPO,phenotype,PHENOTYPE_17116
17117,17117,17117,17117,17117,17117,17117,17117,3572,Low plasma citrulline,HPO,phenotype,PHENOTYPE_17117
17118,17118,17118,17118,17118,17118,17118,17118,4010,Small radial epiphyses,HPO,phenotype,PHENOTYPE_17118
17119,17119,17119,17119,17119,17119,17119,17119,10650,Hypoplasia of the premaxilla,HPO,phenotype,PHENOTYPE_17119
17120,17120,17120,17120,17120,17120,17120,17120,6610,Wide intermamillary distance,HPO,phenotype,PHENOTYPE_17120
17121,17121,17121,17121,17121,17121,17121,17121,100216,Enlarged epiphysis of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_17121
17122,17122,17122,17122,17122,17122,17122,17122,31046,Absent soft palate,HPO,phenotype,PHENOTYPE_17122
17123,17123,17123,17123,17123,17123,17123,17123,4214,Curved phalanges of the 5th finger,HPO,phenotype,PHENOTYPE_17123
17124,17124,17124,17124,17124,17124,17124,17124,11359,Dry hair,HPO,phenotype,PHENOTYPE_17124
17125,17125,17125,17125,17125,17125,17125,17125,11991,Abnormal neutrophil count,HPO,phenotype,PHENOTYPE_17125
17126,17126,17126,17126,17126,17126,17126,17126,430090,Anti-Powassan virus antibody positivity,HPO,phenotype,PHENOTYPE_17126
17127,17127,17127,17127,17127,17127,17127,17127,32597,Renal tubular epithelial cell sloughing,HPO,phenotype,PHENOTYPE_17127
17128,17128,17128,17128,17128,17128,17128,17128,8483,Cervical vertebral bodies with decreased anteroposterior diameter,HPO,phenotype,PHENOTYPE_17128
17129,17129,17129,17129,17129,17129,17129,17129,30048,Colpocephaly,HPO,phenotype,PHENOTYPE_17129
17130,17130,17130,17130,17130,17130,17130,17130,551,Color vision defect,HPO,phenotype,PHENOTYPE_17130
17131,17131,17131,17131,17131,17131,17131,17131,6729,Retroperitoneal paraganglioma,HPO,phenotype,PHENOTYPE_17131
17132,17132,17132,17132,17132,17132,17132,17132,25606,Abnormal medial rectus muscle physiology,HPO,phenotype,PHENOTYPE_17132
17133,17133,17133,17133,17133,17133,17133,17133,2557,Hypoplastic nipples,HPO,phenotype,PHENOTYPE_17133
17134,17134,17134,17134,17134,17134,17134,17134,5769,Fifth finger distal phalanx clinodactyly,HPO,phenotype,PHENOTYPE_17134
17135,17135,17135,17135,17135,17135,17135,17135,5000025,Anti-mGluR5 antibody,HPO,phenotype,PHENOTYPE_17135
17136,17136,17136,17136,17136,17136,17136,17136,9913,Aplasia/Hypoplasia of the tragus,HPO,phenotype,PHENOTYPE_17136
17137,17137,17137,17137,17137,17137,17137,17137,25609,Anterior blepharitis,HPO,phenotype,PHENOTYPE_17137
17138,17138,17138,17138,17138,17138,17138,17138,11956,Intestinal lymphoid nodular hyperplasia,HPO,phenotype,PHENOTYPE_17138
17139,17139,17139,17139,17139,17139,17139,17139,8009,Three rows of eyelashes,HPO,phenotype,PHENOTYPE_17139
17140,17140,17140,17140,17140,17140,17140,17140,10425,Partial duplication of the distal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_17140
17141,17141,17141,17141,17141,17141,17141,17141,938,Osteopenia,HPO,phenotype,PHENOTYPE_17141
17142,17142,17142,17142,17142,17142,17142,17142,400003,Focal absence of the external ear,HPO,phenotype,PHENOTYPE_17142
17143,17143,17143,17143,17143,17143,17143,17143,3677,Slowly progressive,HPO,phenotype,PHENOTYPE_17143
17144,17144,17144,17144,17144,17144,17144,17144,10066,Duplication of phalanx of hallux,HPO,phenotype,PHENOTYPE_17144
17145,17145,17145,17145,17145,17145,17145,17145,400,Macrotia,HPO,phenotype,PHENOTYPE_17145
17146,17146,17146,17146,17146,17146,17146,17146,20081,Pappenheimer bodies,HPO,phenotype,PHENOTYPE_17146
17147,17147,17147,17147,17147,17147,17147,17147,5200117,Poor recognition of injustice,HPO,phenotype,PHENOTYPE_17147
17148,17148,17148,17148,17148,17148,17148,17148,30099,Reduced muscle fiber alpha dystroglycan,HPO,phenotype,PHENOTYPE_17148
17149,17149,17149,17149,17149,17149,17149,17149,7272,Progressive psychomotor deterioration,HPO,phenotype,PHENOTYPE_17149
17150,17150,17150,17150,17150,17150,17150,17150,2331,Recurrent paroxysmal headache,HPO,phenotype,PHENOTYPE_17150
17151,17151,17151,17151,17151,17151,17151,17151,4691,2-3 toe syndactyly,HPO,phenotype,PHENOTYPE_17151
17152,17152,17152,17152,17152,17152,17152,17152,34904,Decreased circulating thyrotropin releasing hormone concentration,HPO,phenotype,PHENOTYPE_17152
17153,17153,17153,17153,17153,17153,17153,17153,9240,Broad distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_17153
17154,17154,17154,17154,17154,17154,17154,17154,6334,Hypoplasia of the primary teeth,HPO,phenotype,PHENOTYPE_17154
17155,17155,17155,17155,17155,17155,17155,17155,3812,Phenotypic variability,HPO,phenotype,PHENOTYPE_17155
17156,17156,17156,17156,17156,17156,17156,17156,34674,Abnormal ankle physiology,HPO,phenotype,PHENOTYPE_17156
17157,17157,17157,17157,17157,17157,17157,17157,9358,Abnormality of the proximal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_17157
17158,17158,17158,17158,17158,17158,17158,17158,34270,Serrated incisors,HPO,phenotype,PHENOTYPE_17158
17159,17159,17159,17159,17159,17159,17159,17159,430093,BCL6 expression,HPO,phenotype,PHENOTYPE_17159
17160,17160,17160,17160,17160,17160,17160,17160,91,Abnormal renal tubule morphology,HPO,phenotype,PHENOTYPE_17160
17161,17161,17161,17161,17161,17161,17161,17161,100603,Toxemia of pregnancy,HPO,phenotype,PHENOTYPE_17161
17162,17162,17162,17162,17162,17162,17162,17162,1710,Conotruncal defect,HPO,phenotype,PHENOTYPE_17162
17163,17163,17163,17163,17163,17163,17163,17163,1548,Overgrowth,HPO,phenotype,PHENOTYPE_17163
17164,17164,17164,17164,17164,17164,17164,17164,7494,Discrete 2 to 5-mm hyper- and hypopigmented macules,HPO,phenotype,PHENOTYPE_17164
17165,17165,17165,17165,17165,17165,17165,17165,32352,Methioninuria,HPO,phenotype,PHENOTYPE_17165
17166,17166,17166,17166,17166,17166,17166,17166,32669,Myoclonic status epilepticus with coma,HPO,phenotype,PHENOTYPE_17166
17167,17167,17167,17167,17167,17167,17167,17167,2839,Urinary bladder sphincter dysfunction,HPO,phenotype,PHENOTYPE_17167
17168,17168,17168,17168,17168,17168,17168,17168,927,Abnormality of skeletal maturation,HPO,phenotype,PHENOTYPE_17168
17169,17169,17169,17169,17169,17169,17169,17169,11202,EEG with diffuse acceleration,HPO,phenotype,PHENOTYPE_17169
17170,17170,17170,17170,17170,17170,17170,17170,6595,Scapulohumeral synostosis,HPO,phenotype,PHENOTYPE_17170
17171,17171,17171,17171,17171,17171,17171,17171,5200011,Abnormal speech rate,HPO,phenotype,PHENOTYPE_17171
17172,17172,17172,17172,17172,17172,17172,17172,500201,Decreased CSF glutamate concentration,HPO,phenotype,PHENOTYPE_17172
17173,17173,17173,17173,17173,17173,17173,17173,6773,Cutaneous angiolipomas,HPO,phenotype,PHENOTYPE_17173
17174,17174,17174,17174,17174,17174,17174,17174,1827,Genital tract atresia,HPO,phenotype,PHENOTYPE_17174
17175,17175,17175,17175,17175,17175,17175,17175,11039,Abnormal helix morphology,HPO,phenotype,PHENOTYPE_17175
17176,17176,17176,17176,17176,17176,17176,17176,32838,Neonatal unilateral epileptic spasm,HPO,phenotype,PHENOTYPE_17176
17177,17177,17177,17177,17177,17177,17177,17177,30733,Vesicoallantoic abdominal wall defect,HPO,phenotype,PHENOTYPE_17177
17178,17178,17178,17178,17178,17178,17178,17178,20144,Calcium phosphate crystalluria,HPO,phenotype,PHENOTYPE_17178
17179,17179,17179,17179,17179,17179,17179,17179,9726,Renal neoplasm,HPO,phenotype,PHENOTYPE_17179
17180,17180,17180,17180,17180,17180,17180,17180,6000306,Autonomic-voluntary dissociation of facial movements,HPO,phenotype,PHENOTYPE_17180
17181,17181,17181,17181,17181,17181,17181,17181,11634,Partial left sided absence of pericardium,HPO,phenotype,PHENOTYPE_17181
17182,17182,17182,17182,17182,17182,17182,17182,831,Insulin-resistant diabetes mellitus,HPO,phenotype,PHENOTYPE_17182
17183,17183,17183,17183,17183,17183,17183,17183,30611,Retinal pigment epithelial loss on macular OCT,HPO,phenotype,PHENOTYPE_17183
17184,17184,17184,17184,17184,17184,17184,17184,682,Abnormal dental enamel morphology,HPO,phenotype,PHENOTYPE_17184
17185,17185,17185,17185,17185,17185,17185,17185,11639,Anomalous origin of right coronary artery from the pulmonary artery,HPO,phenotype,PHENOTYPE_17185
17186,17186,17186,17186,17186,17186,17186,17186,34442,Abnormal circulating erythropoietin concentration,HPO,phenotype,PHENOTYPE_17186
17187,17187,17187,17187,17187,17187,17187,17187,9202,Fragmentation of the epiphysis of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_17187
17188,17188,17188,17188,17188,17188,17188,17188,500225,Abnormal CSF serine family amino acid concentration,HPO,phenotype,PHENOTYPE_17188
17189,17189,17189,17189,17189,17189,17189,17189,743,Frontal release signs,HPO,phenotype,PHENOTYPE_17189
17190,17190,17190,17190,17190,17190,17190,17190,30669,Abnormal ocular adnexa morphology,HPO,phenotype,PHENOTYPE_17190
17191,17191,17191,17191,17191,17191,17191,17191,34134,Anti-GM4 antibody positivity,HPO,phenotype,PHENOTYPE_17191
17192,17192,17192,17192,17192,17192,17192,17192,30028,Absent nasal cartilage,HPO,phenotype,PHENOTYPE_17192
17193,17193,17193,17193,17193,17193,17193,17193,6248,Limited wrist movement,HPO,phenotype,PHENOTYPE_17193
17194,17194,17194,17194,17194,17194,17194,17194,33294,Glomerular lipoprotein thrombus,HPO,phenotype,PHENOTYPE_17194
17195,17195,17195,17195,17195,17195,17195,17195,100121,Triangular epiphysis of the middle phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_17195
17196,17196,17196,17196,17196,17196,17196,17196,31457,Pulmonary opacity,HPO,phenotype,PHENOTYPE_17196
17197,17197,17197,17197,17197,17197,17197,17197,10994,Abnormal corpus striatum morphology,HPO,phenotype,PHENOTYPE_17197
17198,17198,17198,17198,17198,17198,17198,17198,34371,Reduced circulating prekallikrein concentration,HPO,phenotype,PHENOTYPE_17198
17199,17199,17199,17199,17199,17199,17199,17199,7937,Reticular pigmentary degeneration,HPO,phenotype,PHENOTYPE_17199
17200,17200,17200,17200,17200,17200,17200,17200,3182,Shallow acetabular fossae,HPO,phenotype,PHENOTYPE_17200
17201,17201,17201,17201,17201,17201,17201,17201,3882,Slender humerus,HPO,phenotype,PHENOTYPE_17201
17202,17202,17202,17202,17202,17202,17202,17202,33449,Decreased mid-arm muscle circumference,HPO,phenotype,PHENOTYPE_17202
17203,17203,17203,17203,17203,17203,17203,17203,100057,Cone-shaped epiphyses of the 3rd toe,HPO,phenotype,PHENOTYPE_17203
17204,17204,17204,17204,17204,17204,17204,17204,6000650,Distal tibiofibular synostosis,HPO,phenotype,PHENOTYPE_17204
17205,17205,17205,17205,17205,17205,17205,17205,34903,Decreased circulating calcitonin concentration,HPO,phenotype,PHENOTYPE_17205
17206,17206,17206,17206,17206,17206,17206,17206,1123,Visual field defect,HPO,phenotype,PHENOTYPE_17206
17207,17207,17207,17207,17207,17207,17207,17207,5000015,Anti-Homer-3 antibody,HPO,phenotype,PHENOTYPE_17207
17208,17208,17208,17208,17208,17208,17208,17208,33691,Procedural memory loss,HPO,phenotype,PHENOTYPE_17208
17209,17209,17209,17209,17209,17209,17209,17209,10287,Abnormality of the submandibular glands,HPO,phenotype,PHENOTYPE_17209
17210,17210,17210,17210,17210,17210,17210,17210,25454,Abnormal CSF metabolite concentration,HPO,phenotype,PHENOTYPE_17210
17211,17211,17211,17211,17211,17211,17211,17211,31803,Fundus hemorrhage,HPO,phenotype,PHENOTYPE_17211
17212,17212,17212,17212,17212,17212,17212,17212,6000738,Positive bloodstream parainfluenza virus nucleic acid test,HPO,phenotype,PHENOTYPE_17212
17213,17213,17213,17213,17213,17213,17213,17213,30215,Inappropriate crying,HPO,phenotype,PHENOTYPE_17213
17214,17214,17214,17214,17214,17214,17214,17214,32300,Increased circulating IgG4 level,HPO,phenotype,PHENOTYPE_17214
17215,17215,17215,17215,17215,17215,17215,17215,31410,Abnormal distribution of CD56 bright/dim natural killer cells,HPO,phenotype,PHENOTYPE_17215
17216,17216,17216,17216,17216,17216,17216,17216,31794,Decreased circulating glycerol level,HPO,phenotype,PHENOTYPE_17216
17217,17217,17217,17217,17217,17217,17217,17217,9218,Fragmentation of the epiphysis of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_17217
17218,17218,17218,17218,17218,17218,17218,17218,12573,Global proximal tubulopathy,HPO,phenotype,PHENOTYPE_17218
17219,17219,17219,17219,17219,17219,17219,17219,4746,Glomerular subendothelial electron-dense deposits,HPO,phenotype,PHENOTYPE_17219
17220,17220,17220,17220,17220,17220,17220,17220,34886,Decreased urinary uromodulin level,HPO,phenotype,PHENOTYPE_17220
17221,17221,17221,17221,17221,17221,17221,17221,11351,Moderate receptive language delay,HPO,phenotype,PHENOTYPE_17221
17222,17222,17222,17222,17222,17222,17222,17222,9488,Absent epiphyses of the 2nd finger,HPO,phenotype,PHENOTYPE_17222
17223,17223,17223,17223,17223,17223,17223,17223,31350,Cardiac sarcoma,HPO,phenotype,PHENOTYPE_17223
17224,17224,17224,17224,17224,17224,17224,17224,3966,Sclerotic foci in forearm bones,HPO,phenotype,PHENOTYPE_17224
17225,17225,17225,17225,17225,17225,17225,17225,1259,Coma,HPO,phenotype,PHENOTYPE_17225
17226,17226,17226,17226,17226,17226,17226,17226,11689,Supraventricular tachycardia with a concealed accessory connection,HPO,phenotype,PHENOTYPE_17226
17227,17227,17227,17227,17227,17227,17227,17227,500096,Venom-induced anaphylaxis,HPO,phenotype,PHENOTYPE_17227
17228,17228,17228,17228,17228,17228,17228,17228,5974,Episodic ketoacidosis,HPO,phenotype,PHENOTYPE_17228
17229,17229,17229,17229,17229,17229,17229,17229,10268,Absent epiphyses of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_17229
17230,17230,17230,17230,17230,17230,17230,17230,25260,Stiff wrist,HPO,phenotype,PHENOTYPE_17230
17231,17231,17231,17231,17231,17231,17231,17231,410343,Decreased circulating heparan sulfate level,HPO,phenotype,PHENOTYPE_17231
17232,17232,17232,17232,17232,17232,17232,17232,6390,Anterior tibial bowing,HPO,phenotype,PHENOTYPE_17232
17233,17233,17233,17233,17233,17233,17233,17233,3860,Diaphyseal sclerosis of the upper limbs,HPO,phenotype,PHENOTYPE_17233
17234,17234,17234,17234,17234,17234,17234,17234,6000930,Impaired hepatobiliary scintigraphy tracer uptake,HPO,phenotype,PHENOTYPE_17234
17235,17235,17235,17235,17235,17235,17235,17235,30134,Total absence von Willebrand factor multimers,HPO,phenotype,PHENOTYPE_17235
17236,17236,17236,17236,17236,17236,17236,17236,9415,Irregular epiphyses of the 3rd finger,HPO,phenotype,PHENOTYPE_17236
17237,17237,17237,17237,17237,17237,17237,17237,1883,Talipes,HPO,phenotype,PHENOTYPE_17237
17238,17238,17238,17238,17238,17238,17238,17238,2363,Abnormal brainstem morphology,HPO,phenotype,PHENOTYPE_17238
17239,17239,17239,17239,17239,17239,17239,17239,4000056,Abnormal apoptosis,HPO,phenotype,PHENOTYPE_17239
17240,17240,17240,17240,17240,17240,17240,17240,30203,Unfavorable response of muscle weakness to acetylcholine esterase inhibitors,HPO,phenotype,PHENOTYPE_17240
17241,17241,17241,17241,17241,17241,17241,17241,200007,Abnormal size of the palpebral fissures,HPO,phenotype,PHENOTYPE_17241
17242,17242,17242,17242,17242,17242,17242,17242,5300,Nodular inflammatory vasculitis,HPO,phenotype,PHENOTYPE_17242
17243,17243,17243,17243,17243,17243,17243,17243,30083,Salt craving,HPO,phenotype,PHENOTYPE_17243
17244,17244,17244,17244,17244,17244,17244,17244,4000158,Typified by high penetrance,HPO,phenotype,PHENOTYPE_17244
17245,17245,17245,17245,17245,17245,17245,17245,6000350,Ameliorated by gastric acid-reducing therapy,HPO,phenotype,PHENOTYPE_17245
17246,17246,17246,17246,17246,17246,17246,17246,1877,Abnormal erythrocyte morphology,HPO,phenotype,PHENOTYPE_17246
17247,17247,17247,17247,17247,17247,17247,17247,32071,Eosinophilic pneumonia,HPO,phenotype,PHENOTYPE_17247
17248,17248,17248,17248,17248,17248,17248,17248,9663,Abnormality of the epiphysis of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_17248
17249,17249,17249,17249,17249,17249,17249,17249,32935,Posterior crocodile shagreen of the cornea,HPO,phenotype,PHENOTYPE_17249
17250,17250,17250,17250,17250,17250,17250,17250,100389,Short distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_17250
17251,17251,17251,17251,17251,17251,17251,17251,11297,Abnormal digit morphology,HPO,phenotype,PHENOTYPE_17251
17252,17252,17252,17252,17252,17252,17252,17252,30009,Cervical insufficiency,HPO,phenotype,PHENOTYPE_17252
17253,17253,17253,17253,17253,17253,17253,17253,25563,Anterior chamber cells grade 0,HPO,phenotype,PHENOTYPE_17253
17254,17254,17254,17254,17254,17254,17254,17254,11417,Long umbilical cord,HPO,phenotype,PHENOTYPE_17254
17255,17255,17255,17255,17255,17255,17255,17255,11459,Esophageal carcinoma,HPO,phenotype,PHENOTYPE_17255
17256,17256,17256,17256,17256,17256,17256,17256,31322,Myocardial lymphocytic infiltration,HPO,phenotype,PHENOTYPE_17256
17257,17257,17257,17257,17257,17257,17257,17257,6000093,Propylthiouracil exposure,HPO,phenotype,PHENOTYPE_17257
17258,17258,17258,17258,17258,17258,17258,17258,34717,Swollen achromatic neurons in the cerebral cortex,HPO,phenotype,PHENOTYPE_17258
17259,17259,17259,17259,17259,17259,17259,17259,12250,ST segment depression,HPO,phenotype,PHENOTYPE_17259
17260,17260,17260,17260,17260,17260,17260,17260,5946,Ventilator dependence with inability to wean,HPO,phenotype,PHENOTYPE_17260
17261,17261,17261,17261,17261,17261,17261,17261,25114,Hypergranulosis,HPO,phenotype,PHENOTYPE_17261
17262,17262,17262,17262,17262,17262,17262,17262,7457,Prominent veins on trunk,HPO,phenotype,PHENOTYPE_17262
17263,17263,17263,17263,17263,17263,17263,17263,8691,Solitary bladder diverticulum,HPO,phenotype,PHENOTYPE_17263
17264,17264,17264,17264,17264,17264,17264,17264,6585,Congenital pseudoarthrosis of the clavicle,HPO,phenotype,PHENOTYPE_17264
17265,17265,17265,17265,17265,17265,17265,17265,10092,Triangular shaped proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_17265
17266,17266,17266,17266,17266,17266,17266,17266,9461,Short 3rd finger,HPO,phenotype,PHENOTYPE_17266
17267,17267,17267,17267,17267,17267,17267,17267,34642,Dermal papillary IgA deposition,HPO,phenotype,PHENOTYPE_17267
17268,17268,17268,17268,17268,17268,17268,17268,3088,Premature osteoarthritis,HPO,phenotype,PHENOTYPE_17268
17269,17269,17269,17269,17269,17269,17269,17269,7731,Chorioretinal dysplasia,HPO,phenotype,PHENOTYPE_17269
17270,17270,17270,17270,17270,17270,17270,17270,80,Abnormality of reproductive system physiology,HPO,phenotype,PHENOTYPE_17270
17271,17271,17271,17271,17271,17271,17271,17271,500158,Abnormal circulating aspartic acid concentration,HPO,phenotype,PHENOTYPE_17271
17272,17272,17272,17272,17272,17272,17272,17272,10783,Erythema,HPO,phenotype,PHENOTYPE_17272
17273,17273,17273,17273,17273,17273,17273,17273,30053,Stiff skin,HPO,phenotype,PHENOTYPE_17273
17274,17274,17274,17274,17274,17274,17274,17274,9293,Broad middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_17274
17275,17275,17275,17275,17275,17275,17275,17275,9190,Irregular epiphyses of the metacarpals,HPO,phenotype,PHENOTYPE_17275
17276,17276,17276,17276,17276,17276,17276,17276,3949,Abnormal elbow metaphysis morphology,HPO,phenotype,PHENOTYPE_17276
17277,17277,17277,17277,17277,17277,17277,17277,32275,Recurrent shingles,HPO,phenotype,PHENOTYPE_17277
17278,17278,17278,17278,17278,17278,17278,17278,11154,Focal autonomic seizure,HPO,phenotype,PHENOTYPE_17278
17279,17279,17279,17279,17279,17279,17279,17279,905,Progressive clavicular acroosteolysis,HPO,phenotype,PHENOTYPE_17279
17280,17280,17280,17280,17280,17280,17280,17280,11975,Aminoglycoside-induced hearing loss,HPO,phenotype,PHENOTYPE_17280
17281,17281,17281,17281,17281,17281,17281,17281,40070,Abnormal upper limb bone morphology,HPO,phenotype,PHENOTYPE_17281
17282,17282,17282,17282,17282,17282,17282,17282,25419,Pulmonary pneumatocele,HPO,phenotype,PHENOTYPE_17282
17283,17283,17283,17283,17283,17283,17283,17283,1457,Abnormality of the musculature of the upper arm,HPO,phenotype,PHENOTYPE_17283
17284,17284,17284,17284,17284,17284,17284,17284,12210,Abnormal renal morphology,HPO,phenotype,PHENOTYPE_17284
17285,17285,17285,17285,17285,17285,17285,17285,40149,Woolly scalp hair,HPO,phenotype,PHENOTYPE_17285
17286,17286,17286,17286,17286,17286,17286,17286,40279,Frequency,HPO,phenotype,PHENOTYPE_17286
17287,17287,17287,17287,17287,17287,17287,17287,12508,Metamorphopsia,HPO,phenotype,PHENOTYPE_17287
17288,17288,17288,17288,17288,17288,17288,17288,34916,Abnormal anus physiology,HPO,phenotype,PHENOTYPE_17288
17289,17289,17289,17289,17289,17289,17289,17289,7033,Cerebellar dysplasia,HPO,phenotype,PHENOTYPE_17289
17290,17290,17290,17290,17290,17290,17290,17290,100270,Abnormality of dorsoventral patterning of the limbs,HPO,phenotype,PHENOTYPE_17290
17291,17291,17291,17291,17291,17291,17291,17291,32140,Decreased specific antibody response to vaccination,HPO,phenotype,PHENOTYPE_17291
17292,17292,17292,17292,17292,17292,17292,17292,30997,Atretic vas deferens,HPO,phenotype,PHENOTYPE_17292
17293,17293,17293,17293,17293,17293,17293,17293,34598,Elevated urinary creatine level,HPO,phenotype,PHENOTYPE_17293
17294,17294,17294,17294,17294,17294,17294,17294,410337,Parasite allergy,HPO,phenotype,PHENOTYPE_17294
17295,17295,17295,17295,17295,17295,17295,17295,10624,Aplastic/hypoplastic toenail,HPO,phenotype,PHENOTYPE_17295
17296,17296,17296,17296,17296,17296,17296,17296,34812,Spermiation failure,HPO,phenotype,PHENOTYPE_17296
17297,17297,17297,17297,17297,17297,17297,17297,25569,Polypoidal choroidal vasculopathy,HPO,phenotype,PHENOTYPE_17297
17298,17298,17298,17298,17298,17298,17298,17298,6000912,Nummular keratitis,HPO,phenotype,PHENOTYPE_17298
17299,17299,17299,17299,17299,17299,17299,17299,34226,Champagne cork sign,HPO,phenotype,PHENOTYPE_17299
17300,17300,17300,17300,17300,17300,17300,17300,5341,Autonomic bladder dysfunction,HPO,phenotype,PHENOTYPE_17300
17301,17301,17301,17301,17301,17301,17301,17301,9426,Distal/middle symphalangism of 3rd finger,HPO,phenotype,PHENOTYPE_17301
17302,17302,17302,17302,17302,17302,17302,17302,33151,Abnormal pharynx morphology,HPO,phenotype,PHENOTYPE_17302
17303,17303,17303,17303,17303,17303,17303,17303,9990,Duplication of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_17303
17304,17304,17304,17304,17304,17304,17304,17304,3694,Late-onset proximal muscle weakness,HPO,phenotype,PHENOTYPE_17304
17305,17305,17305,17305,17305,17305,17305,17305,100736,Abnormal soft palate morphology,HPO,phenotype,PHENOTYPE_17305
17306,17306,17306,17306,17306,17306,17306,17306,11623,Muscular ventricular septal defect,HPO,phenotype,PHENOTYPE_17306
17307,17307,17307,17307,17307,17307,17307,17307,6000154,Bone marrow granuloma,HPO,phenotype,PHENOTYPE_17307
17308,17308,17308,17308,17308,17308,17308,17308,33853,Abnormal arcuate vein morphology,HPO,phenotype,PHENOTYPE_17308
17309,17309,17309,17309,17309,17309,17309,17309,31293,Digital pitting scar,HPO,phenotype,PHENOTYPE_17309
17310,17310,17310,17310,17310,17310,17310,17310,12674,Aplasia of the lower vagina,HPO,phenotype,PHENOTYPE_17310
17311,17311,17311,17311,17311,17311,17311,17311,33845,Sense of impending doom,HPO,phenotype,PHENOTYPE_17311
17312,17312,17312,17312,17312,17312,17312,17312,3000045,Abnormality of genioglossus muscle,HPO,phenotype,PHENOTYPE_17312
17313,17313,17313,17313,17313,17313,17313,17313,31822,Elevated hypoxanthine-guanine phosphoribosyltransferase level,HPO,phenotype,PHENOTYPE_17313
17314,17314,17314,17314,17314,17314,17314,17314,33384,Elevated urinary collagen degradation products,HPO,phenotype,PHENOTYPE_17314
17315,17315,17315,17315,17315,17315,17315,17315,11096,Peripheral demyelination,HPO,phenotype,PHENOTYPE_17315
17316,17316,17316,17316,17316,17316,17316,17316,9447,Aplasia/Hypoplasia of the phalanges of the 3rd finger,HPO,phenotype,PHENOTYPE_17316
17317,17317,17317,17317,17317,17317,17317,17317,11953,Pulmonary lymphoma,HPO,phenotype,PHENOTYPE_17317
17318,17318,17318,17318,17318,17318,17318,17318,2719,Recurrent infections,HPO,phenotype,PHENOTYPE_17318
17319,17319,17319,17319,17319,17319,17319,17319,10971,Absence of Lutheran antigen on erythrocytes,HPO,phenotype,PHENOTYPE_17319
17320,17320,17320,17320,17320,17320,17320,17320,6000518,Low maternal vitamin B12 concentration,HPO,phenotype,PHENOTYPE_17320
17321,17321,17321,17321,17321,17321,17321,17321,9226,Short proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_17321
17322,17322,17322,17322,17322,17322,17322,17322,6000759,Positive CSF West Nile virus nucleic acid test,HPO,phenotype,PHENOTYPE_17322
17323,17323,17323,17323,17323,17323,17323,17323,31171,Femoral spur,HPO,phenotype,PHENOTYPE_17323
17324,17324,17324,17324,17324,17324,17324,17324,3000030,Abnormal morphology of bony orbit of skull,HPO,phenotype,PHENOTYPE_17324
17325,17325,17325,17325,17325,17325,17325,17325,100879,Enlarged ovaries,HPO,phenotype,PHENOTYPE_17325
17326,17326,17326,17326,17326,17326,17326,17326,25321,Copper accumulation in liver,HPO,phenotype,PHENOTYPE_17326
17327,17327,17327,17327,17327,17327,17327,17327,8518,Aplasia/Hypoplasia involving the vertebral column,HPO,phenotype,PHENOTYPE_17327
17328,17328,17328,17328,17328,17328,17328,17328,10787,Genital neoplasm,HPO,phenotype,PHENOTYPE_17328
17329,17329,17329,17329,17329,17329,17329,17329,11091,Gemination,HPO,phenotype,PHENOTYPE_17329
17330,17330,17330,17330,17330,17330,17330,17330,40109,Abnormal utricle morphology,HPO,phenotype,PHENOTYPE_17330
17331,17331,17331,17331,17331,17331,17331,17331,10576,Intracranial cystic lesion,HPO,phenotype,PHENOTYPE_17331
17332,17332,17332,17332,17332,17332,17332,17332,30367,Finger hyperphalangy,HPO,phenotype,PHENOTYPE_17332
17333,17333,17333,17333,17333,17333,17333,17333,40144,L-2-hydroxyglutaric aciduria,HPO,phenotype,PHENOTYPE_17333
17334,17334,17334,17334,17334,17334,17334,17334,3551,Difficulty climbing stairs,HPO,phenotype,PHENOTYPE_17334
17335,17335,17335,17335,17335,17335,17335,17335,2226,White eyebrow,HPO,phenotype,PHENOTYPE_17335
17336,17336,17336,17336,17336,17336,17336,17336,5105,Abnormal nasal morphology,HPO,phenotype,PHENOTYPE_17336
17337,17337,17337,17337,17337,17337,17337,17337,6508,Abnormality of tibial epiphyses,HPO,phenotype,PHENOTYPE_17337
17338,17338,17338,17338,17338,17338,17338,17338,31456,Ectopic pregnancy,HPO,phenotype,PHENOTYPE_17338
17339,17339,17339,17339,17339,17339,17339,17339,12310,Abnormal monocyte count,HPO,phenotype,PHENOTYPE_17339
17340,17340,17340,17340,17340,17340,17340,17340,7872,Choroidal hemangioma,HPO,phenotype,PHENOTYPE_17340
17341,17341,17341,17341,17341,17341,17341,17341,9395,Cone-shaped epiphyses of the 4th finger,HPO,phenotype,PHENOTYPE_17341
17342,17342,17342,17342,17342,17342,17342,17342,1119,Keratoglobus,HPO,phenotype,PHENOTYPE_17342
17343,17343,17343,17343,17343,17343,17343,17343,31243,Decreased VLDL cholesterol concentration,HPO,phenotype,PHENOTYPE_17343
17344,17344,17344,17344,17344,17344,17344,17344,500064,Retinopathy of prematurity threshold,HPO,phenotype,PHENOTYPE_17344
17345,17345,17345,17345,17345,17345,17345,17345,34863,Reduced leukocyte arylsulfatase A activity,HPO,phenotype,PHENOTYPE_17345
17346,17346,17346,17346,17346,17346,17346,17346,33909,Arcuate vein medial hypertrophy,HPO,phenotype,PHENOTYPE_17346
17347,17347,17347,17347,17347,17347,17347,17347,30503,Macular telangiectasia,HPO,phenotype,PHENOTYPE_17347
17348,17348,17348,17348,17348,17348,17348,17348,12835,Left,HPO,phenotype,PHENOTYPE_17348
17349,17349,17349,17349,17349,17349,17349,17349,4000030,Anti-reticulin antibody positivity,HPO,phenotype,PHENOTYPE_17349
17350,17350,17350,17350,17350,17350,17350,17350,25481,Cervical hemivertebrae,HPO,phenotype,PHENOTYPE_17350
17351,17351,17351,17351,17351,17351,17351,17351,7948,Dense posterior cortical cataract,HPO,phenotype,PHENOTYPE_17351
17352,17352,17352,17352,17352,17352,17352,17352,20283,Clumping of lymph node lymphocyte chromatin,HPO,phenotype,PHENOTYPE_17352
17353,17353,17353,17353,17353,17353,17353,17353,45081,Abnormality of body mass index,HPO,phenotype,PHENOTYPE_17353
17354,17354,17354,17354,17354,17354,17354,17354,31936,Delayed ability to walk,HPO,phenotype,PHENOTYPE_17354
17355,17355,17355,17355,17355,17355,17355,17355,11934,Dilatation of mesenteric artery,HPO,phenotype,PHENOTYPE_17355
17356,17356,17356,17356,17356,17356,17356,17356,6590,Premature sternal synostosis,HPO,phenotype,PHENOTYPE_17356
17357,17357,17357,17357,17357,17357,17357,17357,232,Everted lower lip vermilion,HPO,phenotype,PHENOTYPE_17357
17358,17358,17358,17358,17358,17358,17358,17358,736,Short attention span,HPO,phenotype,PHENOTYPE_17358
17359,17359,17359,17359,17359,17359,17359,17359,9570,Bullet-shaped middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_17359
17360,17360,17360,17360,17360,17360,17360,17360,33887,Cortical radial artery intimal/medial amyloidosis,HPO,phenotype,PHENOTYPE_17360
17361,17361,17361,17361,17361,17361,17361,17361,11210,EEG with occipital slowing,HPO,phenotype,PHENOTYPE_17361
17362,17362,17362,17362,17362,17362,17362,17362,11000,Aplasia/Hypoplasia of the optic tract,HPO,phenotype,PHENOTYPE_17362
17363,17363,17363,17363,17363,17363,17363,17363,32897,Focal impaired awareness sensory seizure with gustatory features,HPO,phenotype,PHENOTYPE_17363
17364,17364,17364,17364,17364,17364,17364,17364,11133,Increased sensitivity to ionizing radiation,HPO,phenotype,PHENOTYPE_17364
17365,17365,17365,17365,17365,17365,17365,17365,2913,Myoglobinuria,HPO,phenotype,PHENOTYPE_17365
17366,17366,17366,17366,17366,17366,17366,17366,31065,Abnormal ovarian morphology,HPO,phenotype,PHENOTYPE_17366
17367,17367,17367,17367,17367,17367,17367,17367,25536,V-sign,HPO,phenotype,PHENOTYPE_17367
17368,17368,17368,17368,17368,17368,17368,17368,2841,Recurrent fungal infections,HPO,phenotype,PHENOTYPE_17368
17369,17369,17369,17369,17369,17369,17369,17369,11653,Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis,HPO,phenotype,PHENOTYPE_17369
17370,17370,17370,17370,17370,17370,17370,17370,31772,Abnormal posterior circulating artery morphology,HPO,phenotype,PHENOTYPE_17370
17371,17371,17371,17371,17371,17371,17371,17371,31232,Increased incisura width,HPO,phenotype,PHENOTYPE_17371
17372,17372,17372,17372,17372,17372,17372,17372,9317,Deviation of the 3rd finger,HPO,phenotype,PHENOTYPE_17372
17373,17373,17373,17373,17373,17373,17373,17373,11129,Bilateral fetal pyelectasis,HPO,phenotype,PHENOTYPE_17373
17374,17374,17374,17374,17374,17374,17374,17374,1326,EEG with irregular generalized spike and wave complexes,HPO,phenotype,PHENOTYPE_17374
17375,17375,17375,17375,17375,17375,17375,17375,100578,Lipoatrophy,HPO,phenotype,PHENOTYPE_17375
17376,17376,17376,17376,17376,17376,17376,17376,25549,Eccentric visual fixation,HPO,phenotype,PHENOTYPE_17376
17377,17377,17377,17377,17377,17377,17377,17377,100029,Lingual thyroid,HPO,phenotype,PHENOTYPE_17377
17378,17378,17378,17378,17378,17378,17378,17378,6001095,Elevated circulating pristanic acid concentration following branched-chain fatty acid ingestion,HPO,phenotype,PHENOTYPE_17378
17379,17379,17379,17379,17379,17379,17379,17379,500184,Abnormal CSF amino acid concentration,HPO,phenotype,PHENOTYPE_17379
17380,17380,17380,17380,17380,17380,17380,17380,11749,Adrenocorticotropic hormone excess,HPO,phenotype,PHENOTYPE_17380
17381,17381,17381,17381,17381,17381,17381,17381,1776,Bilateral talipes equinovarus,HPO,phenotype,PHENOTYPE_17381
17382,17382,17382,17382,17382,17382,17382,17382,4000199,Reduced erythrocyte porphobilinogen deaminase activity,HPO,phenotype,PHENOTYPE_17382
17383,17383,17383,17383,17383,17383,17383,17383,3967,Sclerotic forearm bones,HPO,phenotype,PHENOTYPE_17383
17384,17384,17384,17384,17384,17384,17384,17384,9439,Short middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_17384
17385,17385,17385,17385,17385,17385,17385,17385,30000,EMG: repetitive nerve stimulation abnormality,HPO,phenotype,PHENOTYPE_17385
17386,17386,17386,17386,17386,17386,17386,17386,100878,Enlarged uterus,HPO,phenotype,PHENOTYPE_17386
17387,17387,17387,17387,17387,17387,17387,17387,329,Facial hemangioma,HPO,phenotype,PHENOTYPE_17387
17388,17388,17388,17388,17388,17388,17388,17388,9852,Broad proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_17388
17389,17389,17389,17389,17389,17389,17389,17389,12482,Frontal venous angioma,HPO,phenotype,PHENOTYPE_17389
17390,17390,17390,17390,17390,17390,17390,17390,2904,Hyperbilirubinemia,HPO,phenotype,PHENOTYPE_17390
17391,17391,17391,17391,17391,17391,17391,17391,5824,Clinodactyly of the 2nd toe,HPO,phenotype,PHENOTYPE_17391
17392,17392,17392,17392,17392,17392,17392,17392,31170,Female fetal virilization,HPO,phenotype,PHENOTYPE_17392
17393,17393,17393,17393,17393,17393,17393,17393,32327,Interhemispheric cyst,HPO,phenotype,PHENOTYPE_17393
17394,17394,17394,17394,17394,17394,17394,17394,8401,Onychogryphosis of toenails,HPO,phenotype,PHENOTYPE_17394
17395,17395,17395,17395,17395,17395,17395,17395,10199,Patchy sclerosis of middle toe phalanx,HPO,phenotype,PHENOTYPE_17395
17396,17396,17396,17396,17396,17396,17396,17396,11509,Macular hyperpigmentation,HPO,phenotype,PHENOTYPE_17396
17397,17397,17397,17397,17397,17397,17397,17397,8089,Abnormality of the fifth metatarsal bone,HPO,phenotype,PHENOTYPE_17397
17398,17398,17398,17398,17398,17398,17398,17398,12008,Focal cognitive seizure with illusion,HPO,phenotype,PHENOTYPE_17398
17399,17399,17399,17399,17399,17399,17399,17399,34978,Interrupted pituitary stalk,HPO,phenotype,PHENOTYPE_17399
17400,17400,17400,17400,17400,17400,17400,17400,34525,Adamantinoma,HPO,phenotype,PHENOTYPE_17400
17401,17401,17401,17401,17401,17401,17401,17401,4764,Myxomatous mitral valve degeneration,HPO,phenotype,PHENOTYPE_17401
17402,17402,17402,17402,17402,17402,17402,17402,34677,Ankle contracture,HPO,phenotype,PHENOTYPE_17402
17403,17403,17403,17403,17403,17403,17403,17403,33871,Medullary peritubular capillary lumen organized thrombi,HPO,phenotype,PHENOTYPE_17403
17404,17404,17404,17404,17404,17404,17404,17404,31236,Predominantly dermal neutrophilic infiltrate,HPO,phenotype,PHENOTYPE_17404
17405,17405,17405,17405,17405,17405,17405,17405,500266,"Decreased proportion of CD8-positive, alpha-beta TEMRA T cells",HPO,phenotype,PHENOTYPE_17405
17406,17406,17406,17406,17406,17406,17406,17406,31601,P pulmonale,HPO,phenotype,PHENOTYPE_17406
17407,17407,17407,17407,17407,17407,17407,17407,4944,Dilatation of the cerebral artery,HPO,phenotype,PHENOTYPE_17407
17408,17408,17408,17408,17408,17408,17408,17408,3468,Abnormal vertebral morphology,HPO,phenotype,PHENOTYPE_17408
17409,17409,17409,17409,17409,17409,17409,17409,8476,Irregular sclerotic endplates,HPO,phenotype,PHENOTYPE_17409
17410,17410,17410,17410,17410,17410,17410,17410,7471,Axillary and groin hyperpigmentation and hypopigmentation,HPO,phenotype,PHENOTYPE_17410
17411,17411,17411,17411,17411,17411,17411,17411,1467,Aplasia/Hypoplasia involving the musculature of the upper limbs,HPO,phenotype,PHENOTYPE_17411
17412,17412,17412,17412,17412,17412,17412,17412,33077,Increased circulating free T4 concentration,HPO,phenotype,PHENOTYPE_17412
17413,17413,17413,17413,17413,17413,17413,17413,34946,Multiple eyelid margin cysts,HPO,phenotype,PHENOTYPE_17413
17414,17414,17414,17414,17414,17414,17414,17414,31201,Granular casts,HPO,phenotype,PHENOTYPE_17414
17415,17415,17415,17415,17415,17415,17415,17415,410168,Abnormality of the back musculature,HPO,phenotype,PHENOTYPE_17415
17416,17416,17416,17416,17416,17416,17416,17416,6376,Limited elbow flexion,HPO,phenotype,PHENOTYPE_17416
17417,17417,17417,17417,17417,17417,17417,17417,11703,Sinus tachycardia,HPO,phenotype,PHENOTYPE_17417
17418,17418,17418,17418,17418,17418,17418,17418,32037,Mildly reduced visual acuity,HPO,phenotype,PHENOTYPE_17418
17419,17419,17419,17419,17419,17419,17419,17419,3977,Deformed radius,HPO,phenotype,PHENOTYPE_17419
17420,17420,17420,17420,17420,17420,17420,17420,33551,Non-necrotizing pulmonary granulomatosis,HPO,phenotype,PHENOTYPE_17420
17421,17421,17421,17421,17421,17421,17421,17421,486,Strabismus,HPO,phenotype,PHENOTYPE_17421
17422,17422,17422,17422,17422,17422,17422,17422,34127,Anti-GQ1b IgG antibody positivity,HPO,phenotype,PHENOTYPE_17422
17423,17423,17423,17423,17423,17423,17423,17423,3040,Arthropathy,HPO,phenotype,PHENOTYPE_17423
17424,17424,17424,17424,17424,17424,17424,17424,10074,Triangular shaped 1st metatarsal,HPO,phenotype,PHENOTYPE_17424
17425,17425,17425,17425,17425,17425,17425,17425,100014,Epiretinal membrane,HPO,phenotype,PHENOTYPE_17425
17426,17426,17426,17426,17426,17426,17426,17426,34126,Anti-GD1b IgG antibody positivity,HPO,phenotype,PHENOTYPE_17426
17427,17427,17427,17427,17427,17427,17427,17427,40188,Osteochondrosis,HPO,phenotype,PHENOTYPE_17427
17428,17428,17428,17428,17428,17428,17428,17428,31379,Abnormal T cell proliferation,HPO,phenotype,PHENOTYPE_17428
17429,17429,17429,17429,17429,17429,17429,17429,3403,EMG: decremental response of compound muscle action potential to repetitive nerve stimulation,HPO,phenotype,PHENOTYPE_17429
17430,17430,17430,17430,17430,17430,17430,17430,12448,Delayed myelination,HPO,phenotype,PHENOTYPE_17430
17431,17431,17431,17431,17431,17431,17431,17431,34050,Elevated urinary prostaglandin E2 metabolite level,HPO,phenotype,PHENOTYPE_17431
17432,17432,17432,17432,17432,17432,17432,17432,8952,Shoulder muscle hypoplasia,HPO,phenotype,PHENOTYPE_17432
17433,17433,17433,17433,17433,17433,17433,17433,34389,Pulmonary vein varix,HPO,phenotype,PHENOTYPE_17433
17434,17434,17434,17434,17434,17434,17434,17434,3084,Recurrent long bone fractures,HPO,phenotype,PHENOTYPE_17434
17435,17435,17435,17435,17435,17435,17435,17435,34892,Positive enterovirus urine nucleic acid test,HPO,phenotype,PHENOTYPE_17435
17436,17436,17436,17436,17436,17436,17436,17436,34202,Abnormal iduronate sulfatase concentration,HPO,phenotype,PHENOTYPE_17436
17437,17437,17437,17437,17437,17437,17437,17437,7348,Hypoplasia of the pyramidal tract,HPO,phenotype,PHENOTYPE_17437
17438,17438,17438,17438,17438,17438,17438,17438,7383,Congenital localized absence of skin,HPO,phenotype,PHENOTYPE_17438
17439,17439,17439,17439,17439,17439,17439,17439,31401,"Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells",HPO,phenotype,PHENOTYPE_17439
17440,17440,17440,17440,17440,17440,17440,17440,34179,Vertebral artery aneurysm,HPO,phenotype,PHENOTYPE_17440
17441,17441,17441,17441,17441,17441,17441,17441,11374,Incomplete partition of the cochlea type I,HPO,phenotype,PHENOTYPE_17441
17442,17442,17442,17442,17442,17442,17442,17442,100220,Pseudoepiphysis of the middle phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_17442
17443,17443,17443,17443,17443,17443,17443,17443,33633,Decreased alveolar volume,HPO,phenotype,PHENOTYPE_17443
17444,17444,17444,17444,17444,17444,17444,17444,30642,Fundus albipunctatus,HPO,phenotype,PHENOTYPE_17444
17445,17445,17445,17445,17445,17445,17445,17445,1117,Sudden loss of visual acuity,HPO,phenotype,PHENOTYPE_17445
17446,17446,17446,17446,17446,17446,17446,17446,41223,Fractured metatarsal bone of digit 5,HPO,phenotype,PHENOTYPE_17446
17447,17447,17447,17447,17447,17447,17447,17447,9428,Curved distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_17447
17448,17448,17448,17448,17448,17448,17448,17448,30858,Addictive behavior,HPO,phenotype,PHENOTYPE_17448
17449,17449,17449,17449,17449,17449,17449,17449,9637,Absent proximal phalanx of thumb,HPO,phenotype,PHENOTYPE_17449
17450,17450,17450,17450,17450,17450,17450,17450,25561,Anterior chamber cells grade 1+,HPO,phenotype,PHENOTYPE_17450
17451,17451,17451,17451,17451,17451,17451,17451,3477,Peripheral axonal neuropathy,HPO,phenotype,PHENOTYPE_17451
17452,17452,17452,17452,17452,17452,17452,17452,11685,Infra-aortic superior vena cava,HPO,phenotype,PHENOTYPE_17452
17453,17453,17453,17453,17453,17453,17453,17453,8269,Increased red cell hemolysis by shear stress,HPO,phenotype,PHENOTYPE_17453
17454,17454,17454,17454,17454,17454,17454,17454,11389,Functional abnormality of the inner ear,HPO,phenotype,PHENOTYPE_17454
17455,17455,17455,17455,17455,17455,17455,17455,6000966,Diminished tissue dihydropteridine reductase activity,HPO,phenotype,PHENOTYPE_17455
17456,17456,17456,17456,17456,17456,17456,17456,6001022,Elevated bone scintigraphy uptake,HPO,phenotype,PHENOTYPE_17456
17457,17457,17457,17457,17457,17457,17457,17457,30402,Abnormal platelet aggregation,HPO,phenotype,PHENOTYPE_17457
17458,17458,17458,17458,17458,17458,17458,17458,10186,Broad distal phalanx of the toes,HPO,phenotype,PHENOTYPE_17458
17459,17459,17459,17459,17459,17459,17459,17459,31652,Abnormal aortic valve physiology,HPO,phenotype,PHENOTYPE_17459
17460,17460,17460,17460,17460,17460,17460,17460,11427,Enlarged fetal cisterna magna,HPO,phenotype,PHENOTYPE_17460
17461,17461,17461,17461,17461,17461,17461,17461,11282,Abnormal hindbrain morphology,HPO,phenotype,PHENOTYPE_17461
17462,17462,17462,17462,17462,17462,17462,17462,6888,Meningoencephalocele,HPO,phenotype,PHENOTYPE_17462
17463,17463,17463,17463,17463,17463,17463,17463,34623,Splenic xanthomatosis,HPO,phenotype,PHENOTYPE_17463
17464,17464,17464,17464,17464,17464,17464,17464,6000654,Abnormal ischium ossification,HPO,phenotype,PHENOTYPE_17464
17465,17465,17465,17465,17465,17465,17465,17465,410009,Abnormality of the somatic nervous system,HPO,phenotype,PHENOTYPE_17465
17466,17466,17466,17466,17466,17466,17466,17466,2191,Progressive spasticity,HPO,phenotype,PHENOTYPE_17466
17467,17467,17467,17467,17467,17467,17467,17467,2762,Multiple exostoses,HPO,phenotype,PHENOTYPE_17467
17468,17468,17468,17468,17468,17468,17468,17468,410166,Defective interstrand cross-link repair,HPO,phenotype,PHENOTYPE_17468
17469,17469,17469,17469,17469,17469,17469,17469,8079,Absent fifth metatarsal,HPO,phenotype,PHENOTYPE_17469
17470,17470,17470,17470,17470,17470,17470,17470,1880,Eosinophilia,HPO,phenotype,PHENOTYPE_17470
17471,17471,17471,17471,17471,17471,17471,17471,30497,Macular cotton wool spot,HPO,phenotype,PHENOTYPE_17471
17472,17472,17472,17472,17472,17472,17472,17472,9160,Absent epiphysis of the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_17472
17473,17473,17473,17473,17473,17473,17473,17473,511,Vertical supranuclear gaze palsy,HPO,phenotype,PHENOTYPE_17473
17474,17474,17474,17474,17474,17474,17474,17474,32912,Focal aware manual automatism seizure,HPO,phenotype,PHENOTYPE_17474
17475,17475,17475,17475,17475,17475,17475,17475,377,Abnormal pinna morphology,HPO,phenotype,PHENOTYPE_17475
17476,17476,17476,17476,17476,17476,17476,17476,500274,Decreased proportion of immature gamma-delta T cells,HPO,phenotype,PHENOTYPE_17476
17477,17477,17477,17477,17477,17477,17477,17477,430087,Anti-cytomegalovirus antibody positivity,HPO,phenotype,PHENOTYPE_17477
17478,17478,17478,17478,17478,17478,17478,17478,2418,Abnormal midbrain morphology,HPO,phenotype,PHENOTYPE_17478
17479,17479,17479,17479,17479,17479,17479,17479,31169,Postterm pregnancy,HPO,phenotype,PHENOTYPE_17479
17480,17480,17480,17480,17480,17480,17480,17480,4009,Medially sloping radial epiphyses,HPO,phenotype,PHENOTYPE_17480
17481,17481,17481,17481,17481,17481,17481,17481,100284,EMG: myotonic discharges,HPO,phenotype,PHENOTYPE_17481
17482,17482,17482,17482,17482,17482,17482,17482,2837,Recurrent bronchitis,HPO,phenotype,PHENOTYPE_17482
17483,17483,17483,17483,17483,17483,17483,17483,3010,Prolonged bleeding time,HPO,phenotype,PHENOTYPE_17483
17484,17484,17484,17484,17484,17484,17484,17484,32017,Sputum eosinophilia,HPO,phenotype,PHENOTYPE_17484
17485,17485,17485,17485,17485,17485,17485,17485,30301,Abnormality of the anterior commissure,HPO,phenotype,PHENOTYPE_17485
17486,17486,17486,17486,17486,17486,17486,17486,3883,Tapered humerus,HPO,phenotype,PHENOTYPE_17486
17487,17487,17487,17487,17487,17487,17487,17487,3839,Abnormal upper limb epiphysis morphology,HPO,phenotype,PHENOTYPE_17487
17488,17488,17488,17488,17488,17488,17488,17488,6000305,Proximal to distal progression,HPO,phenotype,PHENOTYPE_17488
17489,17489,17489,17489,17489,17489,17489,17489,25210,Triggered by glucose ingestion,HPO,phenotype,PHENOTYPE_17489
17490,17490,17490,17490,17490,17490,17490,17490,6000692,Abnormal circulating atrial natriuretic peptide pro-hormone concentration,HPO,phenotype,PHENOTYPE_17490
17491,17491,17491,17491,17491,17491,17491,17491,30871,Facet joint arthrosis,HPO,phenotype,PHENOTYPE_17491
17492,17492,17492,17492,17492,17492,17492,17492,200037,Skin vesicle,HPO,phenotype,PHENOTYPE_17492
17493,17493,17493,17493,17493,17493,17493,17493,11922,Abnormal activity of mitochondrial respiratory chain,HPO,phenotype,PHENOTYPE_17493
17494,17494,17494,17494,17494,17494,17494,17494,12673,Aplasia of the upper vagina,HPO,phenotype,PHENOTYPE_17494
17495,17495,17495,17495,17495,17495,17495,17495,25032,Abnormality of digestive system physiology,HPO,phenotype,PHENOTYPE_17495
17496,17496,17496,17496,17496,17496,17496,17496,6001150,Positive Speed's test,HPO,phenotype,PHENOTYPE_17496
17497,17497,17497,17497,17497,17497,17497,17497,6000204,Elevated CSF apolipoprotein B concentration,HPO,phenotype,PHENOTYPE_17497
17498,17498,17498,17498,17498,17498,17498,17498,34820,Koeppe nodules,HPO,phenotype,PHENOTYPE_17498
17499,17499,17499,17499,17499,17499,17499,17499,10351,Osteolytic defects of the phalanges of the 2nd toe,HPO,phenotype,PHENOTYPE_17499
17500,17500,17500,17500,17500,17500,17500,17500,3000068,Abnormality of lateral pterygoid muscle,HPO,phenotype,PHENOTYPE_17500
17501,17501,17501,17501,17501,17501,17501,17501,5084,Anterior radial head dislocation,HPO,phenotype,PHENOTYPE_17501
17502,17502,17502,17502,17502,17502,17502,17502,4132,Dimple on nasal tip,HPO,phenotype,PHENOTYPE_17502
17503,17503,17503,17503,17503,17503,17503,17503,5200101,Limited Repertoire of gestures,HPO,phenotype,PHENOTYPE_17503
17504,17504,17504,17504,17504,17504,17504,17504,4000087,Abnormal communicative facial expressions,HPO,phenotype,PHENOTYPE_17504
17505,17505,17505,17505,17505,17505,17505,17505,9793,Presacral teratoma,HPO,phenotype,PHENOTYPE_17505
17506,17506,17506,17506,17506,17506,17506,17506,8043,Retinal arteriolar constriction,HPO,phenotype,PHENOTYPE_17506
17507,17507,17507,17507,17507,17507,17507,17507,11979,Elevated urinary dopamine level,HPO,phenotype,PHENOTYPE_17507
17508,17508,17508,17508,17508,17508,17508,17508,4219,Abnormality of the middle phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_17508
17509,17509,17509,17509,17509,17509,17509,17509,31119,Bicuspid aortic valve with right-left cusp fusion,HPO,phenotype,PHENOTYPE_17509
17510,17510,17510,17510,17510,17510,17510,17510,100653,Optic neuritis,HPO,phenotype,PHENOTYPE_17510
17511,17511,17511,17511,17511,17511,17511,17511,30619,Reduced OCT-measured foveal thickness,HPO,phenotype,PHENOTYPE_17511
17512,17512,17512,17512,17512,17512,17512,17512,3680,Nonprogressive,HPO,phenotype,PHENOTYPE_17512
17513,17513,17513,17513,17513,17513,17513,17513,34345,Mendelian inheritance,HPO,phenotype,PHENOTYPE_17513
17514,17514,17514,17514,17514,17514,17514,17514,8569,"Microtia, second degree",HPO,phenotype,PHENOTYPE_17514
17515,17515,17515,17515,17515,17515,17515,17515,33370,Bronchial telangiectasia,HPO,phenotype,PHENOTYPE_17515
17516,17516,17516,17516,17516,17516,17516,17516,31281,Sialadenitis,HPO,phenotype,PHENOTYPE_17516
17517,17517,17517,17517,17517,17517,17517,17517,7485,Absence of subcutaneous fat,HPO,phenotype,PHENOTYPE_17517
17518,17518,17518,17518,17518,17518,17518,17518,8988,Pelvic girdle muscle atrophy,HPO,phenotype,PHENOTYPE_17518
17519,17519,17519,17519,17519,17519,17519,17519,9587,Triangular shaped proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_17519
17520,17520,17520,17520,17520,17520,17520,17520,2778,Abnormal tracheal morphology,HPO,phenotype,PHENOTYPE_17520
17521,17521,17521,17521,17521,17521,17521,17521,31208,Increased pituitary glycoprotein hormone alpha subunit level,HPO,phenotype,PHENOTYPE_17521
17522,17522,17522,17522,17522,17522,17522,17522,30475,Abnormal timing of dark-adapted dim flash electroretinogram,HPO,phenotype,PHENOTYPE_17522
17523,17523,17523,17523,17523,17523,17523,17523,9618,Abnormality of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_17523
17524,17524,17524,17524,17524,17524,17524,17524,32129,Decreased proportion of plasmablasts,HPO,phenotype,PHENOTYPE_17524
17525,17525,17525,17525,17525,17525,17525,17525,4000010,Impaired renal tubular reabsorption of bicarbonate,HPO,phenotype,PHENOTYPE_17525
17526,17526,17526,17526,17526,17526,17526,17526,32318,Family history of heart disease,HPO,phenotype,PHENOTYPE_17526
17527,17527,17527,17527,17527,17527,17527,17527,410138,Vibratory urticaria,HPO,phenotype,PHENOTYPE_17527
17528,17528,17528,17528,17528,17528,17528,17528,2071,Abnormality of extrapyramidal motor function,HPO,phenotype,PHENOTYPE_17528
17529,17529,17529,17529,17529,17529,17529,17529,2427,Expressive aphasia,HPO,phenotype,PHENOTYPE_17529
17530,17530,17530,17530,17530,17530,17530,17530,34303,Notched T wave,HPO,phenotype,PHENOTYPE_17530
17531,17531,17531,17531,17531,17531,17531,17531,8082,Medial deviation of the foot,HPO,phenotype,PHENOTYPE_17531
17532,17532,17532,17532,17532,17532,17532,17532,34673,Abnormal ankle morphology,HPO,phenotype,PHENOTYPE_17532
17533,17533,17533,17533,17533,17533,17533,17533,33977,Talar aplasia,HPO,phenotype,PHENOTYPE_17533
17534,17534,17534,17534,17534,17534,17534,17534,31437,Pregnancy exposure,HPO,phenotype,PHENOTYPE_17534
17535,17535,17535,17535,17535,17535,17535,17535,9933,Narrow naris,HPO,phenotype,PHENOTYPE_17535
17536,17536,17536,17536,17536,17536,17536,17536,12251,ST segment elevation,HPO,phenotype,PHENOTYPE_17536
17537,17537,17537,17537,17537,17537,17537,17537,2341,Cervical cord compression,HPO,phenotype,PHENOTYPE_17537
17538,17538,17538,17538,17538,17538,17538,17538,5200058,Sensory hypersensitivity,HPO,phenotype,PHENOTYPE_17538
17539,17539,17539,17539,17539,17539,17539,17539,1344,Absent speech,HPO,phenotype,PHENOTYPE_17539
17540,17540,17540,17540,17540,17540,17540,17540,30021,Auricular tag,HPO,phenotype,PHENOTYPE_17540
17541,17541,17541,17541,17541,17541,17541,17541,6000114,Elevated urinary 5-hydroxymethyluracil level,HPO,phenotype,PHENOTYPE_17541
17542,17542,17542,17542,17542,17542,17542,17542,100755,Abnormality of salivation,HPO,phenotype,PHENOTYPE_17542
17543,17543,17543,17543,17543,17543,17543,17543,32549,Persistent asymmetrical tonic neck reflex,HPO,phenotype,PHENOTYPE_17543
17544,17544,17544,17544,17544,17544,17544,17544,11314,Abnormal long bone morphology,HPO,phenotype,PHENOTYPE_17544
17545,17545,17545,17545,17545,17545,17545,17545,7236,Recurrent subcortical infarcts,HPO,phenotype,PHENOTYPE_17545
17546,17546,17546,17546,17546,17546,17546,17546,4886,Congenital laryngeal stridor,HPO,phenotype,PHENOTYPE_17546
17547,17547,17547,17547,17547,17547,17547,17547,11762,Pituitary thyrotropic cell adenoma,HPO,phenotype,PHENOTYPE_17547
17548,17548,17548,17548,17548,17548,17548,17548,2416,Subependymal cysts,HPO,phenotype,PHENOTYPE_17548
17549,17549,17549,17549,17549,17549,17549,17549,1948,Alkalosis,HPO,phenotype,PHENOTYPE_17549
17550,17550,17550,17550,17550,17550,17550,17550,34925,Perivascular dermis hyaline deposition,HPO,phenotype,PHENOTYPE_17550
17551,17551,17551,17551,17551,17551,17551,17551,9045,Exercise-induced rhabdomyolysis,HPO,phenotype,PHENOTYPE_17551
17552,17552,17552,17552,17552,17552,17552,17552,2039,Anorexia,HPO,phenotype,PHENOTYPE_17552
17553,17553,17553,17553,17553,17553,17553,17553,6000236,Inappropriately low concentration of beta-hydroxybutyrate,HPO,phenotype,PHENOTYPE_17553
17554,17554,17554,17554,17554,17554,17554,17554,12504,Abnormal size of pituitary gland,HPO,phenotype,PHENOTYPE_17554
17555,17555,17555,17555,17555,17555,17555,17555,25134,Increased serum estradiol,HPO,phenotype,PHENOTYPE_17555
17556,17556,17556,17556,17556,17556,17556,17556,12745,Short palpebral fissure,HPO,phenotype,PHENOTYPE_17556
17557,17557,17557,17557,17557,17557,17557,17557,6000984,Coved type ST segment elevation,HPO,phenotype,PHENOTYPE_17557
17558,17558,17558,17558,17558,17558,17558,17558,34054,Probst bundles,HPO,phenotype,PHENOTYPE_17558
17559,17559,17559,17559,17559,17559,17559,17559,34173,Abnormal circulating interleukin 27 concentration,HPO,phenotype,PHENOTYPE_17559
17560,17560,17560,17560,17560,17560,17560,17560,10044,Short 4th metacarpal,HPO,phenotype,PHENOTYPE_17560
17561,17561,17561,17561,17561,17561,17561,17561,11228,Horizontal eyebrow,HPO,phenotype,PHENOTYPE_17561
17562,17562,17562,17562,17562,17562,17562,17562,100611,Multiple glomerular cysts,HPO,phenotype,PHENOTYPE_17562
17563,17563,17563,17563,17563,17563,17563,17563,34225,Reversed end-diastolic umbilical artery flow,HPO,phenotype,PHENOTYPE_17563
17564,17564,17564,17564,17564,17564,17564,17564,5200073,Excessive cleaning,HPO,phenotype,PHENOTYPE_17564
17565,17565,17565,17565,17565,17565,17565,17565,45055,Tiger tail banding,HPO,phenotype,PHENOTYPE_17565
17566,17566,17566,17566,17566,17566,17566,17566,11905,Reduced hemoglobin A,HPO,phenotype,PHENOTYPE_17566
17567,17567,17567,17567,17567,17567,17567,17567,30153,Cholangiocarcinoma,HPO,phenotype,PHENOTYPE_17567
17568,17568,17568,17568,17568,17568,17568,17568,12111,Abnormality of circulating glucocorticoid level,HPO,phenotype,PHENOTYPE_17568
17569,17569,17569,17569,17569,17569,17569,17569,25455,Decreased CSF 5-hydroxyindolacetic acid concentration,HPO,phenotype,PHENOTYPE_17569
17570,17570,17570,17570,17570,17570,17570,17570,200054,Foot monodactyly,HPO,phenotype,PHENOTYPE_17570
17571,17571,17571,17571,17571,17571,17571,17571,5134,Absence of the pulmonary valve,HPO,phenotype,PHENOTYPE_17571
17572,17572,17572,17572,17572,17572,17572,17572,2120,Cerebral cortical atrophy,HPO,phenotype,PHENOTYPE_17572
17573,17573,17573,17573,17573,17573,17573,17573,100300,Desmin bodies,HPO,phenotype,PHENOTYPE_17573
17574,17574,17574,17574,17574,17574,17574,17574,5200425,Hypochondriac delusion,HPO,phenotype,PHENOTYPE_17574
17575,17575,17575,17575,17575,17575,17575,17575,40051,Abnormality of upper eyelashes,HPO,phenotype,PHENOTYPE_17575
17576,17576,17576,17576,17576,17576,17576,17576,33898,Arcuate artery intraluminal thrombi,HPO,phenotype,PHENOTYPE_17576
17577,17577,17577,17577,17577,17577,17577,17577,12764,Orthopnea,HPO,phenotype,PHENOTYPE_17577
17578,17578,17578,17578,17578,17578,17578,17578,34570,Thickened intrahepatic portal venules,HPO,phenotype,PHENOTYPE_17578
17579,17579,17579,17579,17579,17579,17579,17579,3634,Amyoplasia,HPO,phenotype,PHENOTYPE_17579
17580,17580,17580,17580,17580,17580,17580,17580,6748,Adrenal pheochromocytoma,HPO,phenotype,PHENOTYPE_17580
17581,17581,17581,17581,17581,17581,17581,17581,813,Bicornuate uterus,HPO,phenotype,PHENOTYPE_17581
17582,17582,17582,17582,17582,17582,17582,17582,8659,Multiple small medullary renal cysts,HPO,phenotype,PHENOTYPE_17582
17583,17583,17583,17583,17583,17583,17583,17583,410366,Increased globoside Gb4 level,HPO,phenotype,PHENOTYPE_17583
17584,17584,17584,17584,17584,17584,17584,17584,5200214,Somatic hallucination,HPO,phenotype,PHENOTYPE_17584
17585,17585,17585,17585,17585,17585,17585,17585,4000020,Anti-BP180 antibody positivity,HPO,phenotype,PHENOTYPE_17585
17586,17586,17586,17586,17586,17586,17586,17586,32361,Decreased post-bronchodilator forced expiratory flow 25-75%,HPO,phenotype,PHENOTYPE_17586
17587,17587,17587,17587,17587,17587,17587,17587,34158,Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity,HPO,phenotype,PHENOTYPE_17587
17588,17588,17588,17588,17588,17588,17588,17588,11288,EEG with parietal sharp slow waves,HPO,phenotype,PHENOTYPE_17588
17589,17589,17589,17589,17589,17589,17589,17589,31609,Geographic atrophy,HPO,phenotype,PHENOTYPE_17589
17590,17590,17590,17590,17590,17590,17590,17590,4303,Abnormal muscle fiber morphology,HPO,phenotype,PHENOTYPE_17590
17591,17591,17591,17591,17591,17591,17591,17591,30399,Abnormal platelet alpha granule secretion,HPO,phenotype,PHENOTYPE_17591
17592,17592,17592,17592,17592,17592,17592,17592,570,Abnormal saccadic eye movements,HPO,phenotype,PHENOTYPE_17592
17593,17593,17593,17593,17593,17593,17593,17593,6016,Delayed phalangeal epiphyseal ossification,HPO,phenotype,PHENOTYPE_17593
17594,17594,17594,17594,17594,17594,17594,17594,31179,Nuchal rigidity,HPO,phenotype,PHENOTYPE_17594
17595,17595,17595,17595,17595,17595,17595,17595,34395,Forearm pronation contracture,HPO,phenotype,PHENOTYPE_17595
17596,17596,17596,17596,17596,17596,17596,17596,837,Increased circulating gonadotropin level,HPO,phenotype,PHENOTYPE_17596
17597,17597,17597,17597,17597,17597,17597,17597,4245,Comma-shaped scaphoid,HPO,phenotype,PHENOTYPE_17597
17598,17598,17598,17598,17598,17598,17598,17598,25155,Abnormality of hepatobiliary system physiology,HPO,phenotype,PHENOTYPE_17598
17599,17599,17599,17599,17599,17599,17599,17599,34155,Anti-sp100 antibody positivity,HPO,phenotype,PHENOTYPE_17599
17600,17600,17600,17600,17600,17600,17600,17600,6001016,Inappropriate normal or low erythropoietin,HPO,phenotype,PHENOTYPE_17600
17601,17601,17601,17601,17601,17601,17601,17601,25129,Abnormal small intestinal mucosa morphology,HPO,phenotype,PHENOTYPE_17601
17602,17602,17602,17602,17602,17602,17602,17602,3467,Atlantoaxial instability,HPO,phenotype,PHENOTYPE_17602
17603,17603,17603,17603,17603,17603,17603,17603,30853,Heterotaxy,HPO,phenotype,PHENOTYPE_17603
17604,17604,17604,17604,17604,17604,17604,17604,9253,Enlarged epiphysis of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_17604
17605,17605,17605,17605,17605,17605,17605,17605,2251,Aganglionic megacolon,HPO,phenotype,PHENOTYPE_17605
17606,17606,17606,17606,17606,17606,17606,17606,100158,Bracket epiphysis of the proximal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_17606
17607,17607,17607,17607,17607,17607,17607,17607,6000827,Diminished tissue fumarylacetoacetate hydrolase activity,HPO,phenotype,PHENOTYPE_17607
17608,17608,17608,17608,17608,17608,17608,17608,12390,Anal fissure,HPO,phenotype,PHENOTYPE_17608
17609,17609,17609,17609,17609,17609,17609,17609,32689,Focal cognitive seizure with dissociation,HPO,phenotype,PHENOTYPE_17609
17610,17610,17610,17610,17610,17610,17610,17610,32382,Uniparental disomy,HPO,phenotype,PHENOTYPE_17610
17611,17611,17611,17611,17611,17611,17611,17611,100711,Abnormal thoracic spine morphology,HPO,phenotype,PHENOTYPE_17611
17612,17612,17612,17612,17612,17612,17612,17612,11284,Short-segment aganglionic megacolon,HPO,phenotype,PHENOTYPE_17612
17613,17613,17613,17613,17613,17613,17613,17613,11697,Supraventricular tachycardia with a manifest accessory pathway on the right free wall,HPO,phenotype,PHENOTYPE_17613
17614,17614,17614,17614,17614,17614,17614,17614,31504,Foamy urine,HPO,phenotype,PHENOTYPE_17614
17615,17615,17615,17615,17615,17615,17615,17615,410242,Abnormal circulating IgG concentration,HPO,phenotype,PHENOTYPE_17615
17616,17616,17616,17616,17616,17616,17616,17616,33130,Abnormal renal echogenicity,HPO,phenotype,PHENOTYPE_17616
17617,17617,17617,17617,17617,17617,17617,17617,1331,Absent septum pellucidum,HPO,phenotype,PHENOTYPE_17617
17618,17618,17618,17618,17618,17618,17618,17618,11471,Gastrostomy tube feeding in infancy,HPO,phenotype,PHENOTYPE_17618
17619,17619,17619,17619,17619,17619,17619,17619,30211,Slow pupillary light response,HPO,phenotype,PHENOTYPE_17619
17620,17620,17620,17620,17620,17620,17620,17620,9299,Aplasia/Hypoplasia of the middle phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_17620
17621,17621,17621,17621,17621,17621,17621,17621,10430,Aplasia of the phalanges of the 2nd toe,HPO,phenotype,PHENOTYPE_17621
17622,17622,17622,17622,17622,17622,17622,17622,34513,Increased circulating Interferon-alpha concentration,HPO,phenotype,PHENOTYPE_17622
17623,17623,17623,17623,17623,17623,17623,17623,6000501,Ruffled acrosome,HPO,phenotype,PHENOTYPE_17623
17624,17624,17624,17624,17624,17624,17624,17624,1772,Talipes equinovalgus,HPO,phenotype,PHENOTYPE_17624
17625,17625,17625,17625,17625,17625,17625,17625,30986,Biliary epithelial hyperplasia,HPO,phenotype,PHENOTYPE_17625
17626,17626,17626,17626,17626,17626,17626,17626,100267,Lip pit,HPO,phenotype,PHENOTYPE_17626
17627,17627,17627,17627,17627,17627,17627,17627,30356,Increased circulating interferon-gamma concentration,HPO,phenotype,PHENOTYPE_17627
17628,17628,17628,17628,17628,17628,17628,17628,9124,Abnormal adipose tissue morphology,HPO,phenotype,PHENOTYPE_17628
17629,17629,17629,17629,17629,17629,17629,17629,8182,Adrenocortical hypoplasia,HPO,phenotype,PHENOTYPE_17629
17630,17630,17630,17630,17630,17630,17630,17630,5200359,Prolonged N3 sleep,HPO,phenotype,PHENOTYPE_17630
17631,17631,17631,17631,17631,17631,17631,17631,30516,Homonymous hemianopia,HPO,phenotype,PHENOTYPE_17631
17632,17632,17632,17632,17632,17632,17632,17632,3080,Hydroxyprolinuria,HPO,phenotype,PHENOTYPE_17632
17633,17633,17633,17633,17633,17633,17633,17633,7420,Spontaneous hematomas,HPO,phenotype,PHENOTYPE_17633
17634,17634,17634,17634,17634,17634,17634,17634,40008,Aplasia of facial bones,HPO,phenotype,PHENOTYPE_17634
17635,17635,17635,17635,17635,17635,17635,17635,32111,Abnormal Vistech contrast sensitivity test,HPO,phenotype,PHENOTYPE_17635
17636,17636,17636,17636,17636,17636,17636,17636,12631,Pigment deposition in the trabecular meshwork,HPO,phenotype,PHENOTYPE_17636
17637,17637,17637,17637,17637,17637,17637,17637,9719,Hypomelanotic macule,HPO,phenotype,PHENOTYPE_17637
17638,17638,17638,17638,17638,17638,17638,17638,12760,Reduced social responsiveness,HPO,phenotype,PHENOTYPE_17638
17639,17639,17639,17639,17639,17639,17639,17639,34661,Elevated urine 3-hydroxypropionic acid level,HPO,phenotype,PHENOTYPE_17639
17640,17640,17640,17640,17640,17640,17640,17640,3000078,Abnormal mandible coronoid process morphology,HPO,phenotype,PHENOTYPE_17640
17641,17641,17641,17641,17641,17641,17641,17641,6000523,Increased urinary bile acid level,HPO,phenotype,PHENOTYPE_17641
17642,17642,17642,17642,17642,17642,17642,17642,8755,Laryngotracheomalacia,HPO,phenotype,PHENOTYPE_17642
17643,17643,17643,17643,17643,17643,17643,17643,430145,Nasal dermoid cyst,HPO,phenotype,PHENOTYPE_17643
17644,17644,17644,17644,17644,17644,17644,17644,11065,Conical incisor,HPO,phenotype,PHENOTYPE_17644
17645,17645,17645,17645,17645,17645,17645,17645,201,Pierre-Robin sequence,HPO,phenotype,PHENOTYPE_17645
17646,17646,17646,17646,17646,17646,17646,17646,34040,Bidirectional ventricular tachycardia,HPO,phenotype,PHENOTYPE_17646
17647,17647,17647,17647,17647,17647,17647,17647,6000933,Koebner Phenomenon,HPO,phenotype,PHENOTYPE_17647
17648,17648,17648,17648,17648,17648,17648,17648,5148,Pulmonary valve defects,HPO,phenotype,PHENOTYPE_17648
17649,17649,17649,17649,17649,17649,17649,17649,6429,Broad femoral neck,HPO,phenotype,PHENOTYPE_17649
17650,17650,17650,17650,17650,17650,17650,17650,100147,Bracket epiphysis of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_17650
17651,17651,17651,17651,17651,17651,17651,17651,10967,Abnormal circulating carnitine concentration,HPO,phenotype,PHENOTYPE_17651
17652,17652,17652,17652,17652,17652,17652,17652,6134,Enlarged metacarpal epiphyses,HPO,phenotype,PHENOTYPE_17652
17653,17653,17653,17653,17653,17653,17653,17653,25772,Abnormal lexical patterns,HPO,phenotype,PHENOTYPE_17653
17654,17654,17654,17654,17654,17654,17654,17654,31921,Gastrocnemius myalgia,HPO,phenotype,PHENOTYPE_17654
17655,17655,17655,17655,17655,17655,17655,17655,34521,Periorificial hyperkeratosis,HPO,phenotype,PHENOTYPE_17655
17656,17656,17656,17656,17656,17656,17656,17656,9611,Bifid distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_17656
17657,17657,17657,17657,17657,17657,17657,17657,4024,Medially sloping radial metaphysis,HPO,phenotype,PHENOTYPE_17657
17658,17658,17658,17658,17658,17658,17658,17658,12537,Food intolerance,HPO,phenotype,PHENOTYPE_17658
17659,17659,17659,17659,17659,17659,17659,17659,6000882,Anti-recoverin antibody positivity,HPO,phenotype,PHENOTYPE_17659
17660,17660,17660,17660,17660,17660,17660,17660,454,Flared nostrils,HPO,phenotype,PHENOTYPE_17660
17661,17661,17661,17661,17661,17661,17661,17661,25268,Stuttering,HPO,phenotype,PHENOTYPE_17661
17662,17662,17662,17662,17662,17662,17662,17662,100884,Compensatory scoliosis,HPO,phenotype,PHENOTYPE_17662
17663,17663,17663,17663,17663,17663,17663,17663,182,Movement abnormality of the tongue,HPO,phenotype,PHENOTYPE_17663
17664,17664,17664,17664,17664,17664,17664,17664,503,Tortuosity of conjunctival vessels,HPO,phenotype,PHENOTYPE_17664
17665,17665,17665,17665,17665,17665,17665,17665,32587,Renal interstitial calcium oxalate,HPO,phenotype,PHENOTYPE_17665
17666,17666,17666,17666,17666,17666,17666,17666,32060,Epithelioid hemangioma,HPO,phenotype,PHENOTYPE_17666
17667,17667,17667,17667,17667,17667,17667,17667,25482,Positive perchlorate discharge test,HPO,phenotype,PHENOTYPE_17667
17668,17668,17668,17668,17668,17668,17668,17668,34005,Decreased dendritic spine number,HPO,phenotype,PHENOTYPE_17668
17669,17669,17669,17669,17669,17669,17669,17669,10921,Coralliform cataract,HPO,phenotype,PHENOTYPE_17669
17670,17670,17670,17670,17670,17670,17670,17670,8247,Euthyroid hyperthyroxinemia,HPO,phenotype,PHENOTYPE_17670
17671,17671,17671,17671,17671,17671,17671,17671,30094,Reduced muscle fiber laminin beta 1,HPO,phenotype,PHENOTYPE_17671
17672,17672,17672,17672,17672,17672,17672,17672,10537,Wide cranial sutures,HPO,phenotype,PHENOTYPE_17672
17673,17673,17673,17673,17673,17673,17673,17673,34498,Hepatic focal nodular hyperplasia,HPO,phenotype,PHENOTYPE_17673
17674,17674,17674,17674,17674,17674,17674,17674,10575,Dysplasia of the femoral head,HPO,phenotype,PHENOTYPE_17674
17675,17675,17675,17675,17675,17675,17675,17675,6438,Enlargement of the distal femoral epiphysis,HPO,phenotype,PHENOTYPE_17675
17676,17676,17676,17676,17676,17676,17676,17676,7035,Anterior encephalocele,HPO,phenotype,PHENOTYPE_17676
17677,17677,17677,17677,17677,17677,17677,17677,9659,Partial absence of thumb,HPO,phenotype,PHENOTYPE_17677
17678,17678,17678,17678,17678,17678,17678,17678,25547,Decreased mean corpuscular hemoglobin concentration,HPO,phenotype,PHENOTYPE_17678
17679,17679,17679,17679,17679,17679,17679,17679,500142,Hypolysinemia,HPO,phenotype,PHENOTYPE_17679
17680,17680,17680,17680,17680,17680,17680,17680,30576,Pinhole visual acuity 0.8 LogMAR,HPO,phenotype,PHENOTYPE_17680
17681,17681,17681,17681,17681,17681,17681,17681,8087,Nonossified fifth metatarsal,HPO,phenotype,PHENOTYPE_17681
17682,17682,17682,17682,17682,17682,17682,17682,34048,Decreased circulating chenodeoxycholic acid concentration,HPO,phenotype,PHENOTYPE_17682
17683,17683,17683,17683,17683,17683,17683,17683,4732,Impaired renal uric acid clearance,HPO,phenotype,PHENOTYPE_17683
17684,17684,17684,17684,17684,17684,17684,17684,31702,Anterior chamber red blood cells,HPO,phenotype,PHENOTYPE_17684
17685,17685,17685,17685,17685,17685,17685,17685,12770,Reduced arm span,HPO,phenotype,PHENOTYPE_17685
17686,17686,17686,17686,17686,17686,17686,17686,34492,Salpingitis,HPO,phenotype,PHENOTYPE_17686
17687,17687,17687,17687,17687,17687,17687,17687,1211,Abnormal fingertip morphology,HPO,phenotype,PHENOTYPE_17687
17688,17688,17688,17688,17688,17688,17688,17688,8223,Compensated hypothyroidism,HPO,phenotype,PHENOTYPE_17688
17689,17689,17689,17689,17689,17689,17689,17689,11108,Recurrent sinusitis,HPO,phenotype,PHENOTYPE_17689
17690,17690,17690,17690,17690,17690,17690,17690,2173,Hypoglycemic seizures,HPO,phenotype,PHENOTYPE_17690
17691,17691,17691,17691,17691,17691,17691,17691,10562,Keloids,HPO,phenotype,PHENOTYPE_17691
17692,17692,17692,17692,17692,17692,17692,17692,32335,Monoclonal elevation of circulating IgA,HPO,phenotype,PHENOTYPE_17692
17693,17693,17693,17693,17693,17693,17693,17693,10005,Partial duplication of the middle phalanges of the hand,HPO,phenotype,PHENOTYPE_17693
17694,17694,17694,17694,17694,17694,17694,17694,31890,Increased urine urobilinogen,HPO,phenotype,PHENOTYPE_17694
17695,17695,17695,17695,17695,17695,17695,17695,878,11 pairs of ribs,HPO,phenotype,PHENOTYPE_17695
17696,17696,17696,17696,17696,17696,17696,17696,4434,Decreased circulating complement C8 concentration,HPO,phenotype,PHENOTYPE_17696
17697,17697,17697,17697,17697,17697,17697,17697,11916,Toe extensor amyotrophy,HPO,phenotype,PHENOTYPE_17697
17698,17698,17698,17698,17698,17698,17698,17698,873,Diabetes insipidus,HPO,phenotype,PHENOTYPE_17698
17699,17699,17699,17699,17699,17699,17699,17699,34328,Fibro-obliterative bile-duct lesion,HPO,phenotype,PHENOTYPE_17699
17700,17700,17700,17700,17700,17700,17700,17700,34633,Reduced muscle enolase activity,HPO,phenotype,PHENOTYPE_17700
17701,17701,17701,17701,17701,17701,17701,17701,5201012,Incomplete bilateral cleft lip,HPO,phenotype,PHENOTYPE_17701
17702,17702,17702,17702,17702,17702,17702,17702,31883,Increased proinsulin:insulin ratio,HPO,phenotype,PHENOTYPE_17702
17703,17703,17703,17703,17703,17703,17703,17703,2490,Increased CSF lactate,HPO,phenotype,PHENOTYPE_17703
17704,17704,17704,17704,17704,17704,17704,17704,2530,Axial dystonia,HPO,phenotype,PHENOTYPE_17704
17705,17705,17705,17705,17705,17705,17705,17705,32224,ABO blood group,HPO,phenotype,PHENOTYPE_17705
17706,17706,17706,17706,17706,17706,17706,17706,7418,Alopecia totalis,HPO,phenotype,PHENOTYPE_17706
17707,17707,17707,17707,17707,17707,17707,17707,500191,Increased CSF leucine concentration,HPO,phenotype,PHENOTYPE_17707
17708,17708,17708,17708,17708,17708,17708,17708,31723,Secondary esotropia,HPO,phenotype,PHENOTYPE_17708
17709,17709,17709,17709,17709,17709,17709,17709,30327,Abnormal osteoclast count,HPO,phenotype,PHENOTYPE_17709
17710,17710,17710,17710,17710,17710,17710,17710,11535,Abnormal atrial arrangement,HPO,phenotype,PHENOTYPE_17710
17711,17711,17711,17711,17711,17711,17711,17711,7010,Poor fine motor coordination,HPO,phenotype,PHENOTYPE_17711
17712,17712,17712,17712,17712,17712,17712,17712,25382,Hypodipsia,HPO,phenotype,PHENOTYPE_17712
17713,17713,17713,17713,17713,17713,17713,17713,100705,Abnormal glial cell morphology,HPO,phenotype,PHENOTYPE_17713
17714,17714,17714,17714,17714,17714,17714,17714,9738,Abnormal antihelix morphology,HPO,phenotype,PHENOTYPE_17714
17715,17715,17715,17715,17715,17715,17715,17715,33093,Increased glutamine family amino acid level in urine,HPO,phenotype,PHENOTYPE_17715
17716,17716,17716,17716,17716,17716,17716,17716,11873,Abnormal platelet count,HPO,phenotype,PHENOTYPE_17716
17717,17717,17717,17717,17717,17717,17717,17717,11933,Elongated superior cerebellar peduncle,HPO,phenotype,PHENOTYPE_17717
17718,17718,17718,17718,17718,17718,17718,17718,20143,Tracheal duplication cyst,HPO,phenotype,PHENOTYPE_17718
17719,17719,17719,17719,17719,17719,17719,17719,2971,Absent microvilli on the surface of peripheral blood lymphocytes,HPO,phenotype,PHENOTYPE_17719
17720,17720,17720,17720,17720,17720,17720,17720,31758,Lateral rectus muscle restriction,HPO,phenotype,PHENOTYPE_17720
17721,17721,17721,17721,17721,17721,17721,17721,33200,Triceps hyporeflexia,HPO,phenotype,PHENOTYPE_17721
17722,17722,17722,17722,17722,17722,17722,17722,25781,Abnormally rapid thought process,HPO,phenotype,PHENOTYPE_17722
17723,17723,17723,17723,17723,17723,17723,17723,8490,Sacral segmentation defect,HPO,phenotype,PHENOTYPE_17723
17724,17724,17724,17724,17724,17724,17724,17724,2097,Emphysema,HPO,phenotype,PHENOTYPE_17724
17725,17725,17725,17725,17725,17725,17725,17725,5688,Dysplastic distal thumb phalanges with a central hole,HPO,phenotype,PHENOTYPE_17725
17726,17726,17726,17726,17726,17726,17726,17726,33829,Posterior mediastinal mass,HPO,phenotype,PHENOTYPE_17726
17727,17727,17727,17727,17727,17727,17727,17727,4961,Pulmonary artery sling,HPO,phenotype,PHENOTYPE_17727
17728,17728,17728,17728,17728,17728,17728,17728,30740,Anomalous muscle bundle of the right ventricle,HPO,phenotype,PHENOTYPE_17728
17729,17729,17729,17729,17729,17729,17729,17729,25745,Abnormal urine amino acid level,HPO,phenotype,PHENOTYPE_17729
17730,17730,17730,17730,17730,17730,17730,17730,6000361,Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_17730
17731,17731,17731,17731,17731,17731,17731,17731,30325,Cervicomedullary schisis,HPO,phenotype,PHENOTYPE_17731
17732,17732,17732,17732,17732,17732,17732,17732,10131,Fragmentation of the epiphysis of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_17732
17733,17733,17733,17733,17733,17733,17733,17733,2055,Curved linear dimple below the lower lip,HPO,phenotype,PHENOTYPE_17733
17734,17734,17734,17734,17734,17734,17734,17734,10691,Mirror image foot polydactyly,HPO,phenotype,PHENOTYPE_17734
17735,17735,17735,17735,17735,17735,17735,17735,33254,Anorectal stricture,HPO,phenotype,PHENOTYPE_17735
17736,17736,17736,17736,17736,17736,17736,17736,20268,Compressed lymph-node sinuses,HPO,phenotype,PHENOTYPE_17736
17737,17737,17737,17737,17737,17737,17737,17737,12609,Hypomagnesiuria,HPO,phenotype,PHENOTYPE_17737
17738,17738,17738,17738,17738,17738,17738,17738,20211,Proprioceptive-induced seizure,HPO,phenotype,PHENOTYPE_17738
17739,17739,17739,17739,17739,17739,17739,17739,34162,Abnormal circulating interleukin 10 concentration,HPO,phenotype,PHENOTYPE_17739
17740,17740,17740,17740,17740,17740,17740,17740,25099,Dysgenesis of the thalamus,HPO,phenotype,PHENOTYPE_17740
17741,17741,17741,17741,17741,17741,17741,17741,11702,Abnormal electrophysiology of sinoatrial node origin,HPO,phenotype,PHENOTYPE_17741
17742,17742,17742,17742,17742,17742,17742,17742,100069,Enlarged epiphyses of the 4th toe,HPO,phenotype,PHENOTYPE_17742
17743,17743,17743,17743,17743,17743,17743,17743,31133,Increased annexin V binding to platelet phosphatidylserine,HPO,phenotype,PHENOTYPE_17743
17744,17744,17744,17744,17744,17744,17744,17744,430146,Elevated circulating complement C3 concentration,HPO,phenotype,PHENOTYPE_17744
17745,17745,17745,17745,17745,17745,17745,17745,12105,Occipital cortical atrophy,HPO,phenotype,PHENOTYPE_17745
17746,17746,17746,17746,17746,17746,17746,17746,9671,Pseudoepiphysis of the proximal phalanx of the thumb,HPO,phenotype,PHENOTYPE_17746
17747,17747,17747,17747,17747,17747,17747,17747,7819,Presenile cataracts,HPO,phenotype,PHENOTYPE_17747
17748,17748,17748,17748,17748,17748,17748,17748,11608,Type II truncus arteriosus,HPO,phenotype,PHENOTYPE_17748
17749,17749,17749,17749,17749,17749,17749,17749,33577,In situ pulmonary artery thrombosis,HPO,phenotype,PHENOTYPE_17749
17750,17750,17750,17750,17750,17750,17750,17750,40194,Increased head circumference,HPO,phenotype,PHENOTYPE_17750
17751,17751,17751,17751,17751,17751,17751,17751,2577,Abnormal stomach morphology,HPO,phenotype,PHENOTYPE_17751
17752,17752,17752,17752,17752,17752,17752,17752,12627,Pseudoexfoliation,HPO,phenotype,PHENOTYPE_17752
17753,17753,17753,17753,17753,17753,17753,17753,31086,Ectopic ovary,HPO,phenotype,PHENOTYPE_17753
17754,17754,17754,17754,17754,17754,17754,17754,2392,EEG with polyspike wave complexes,HPO,phenotype,PHENOTYPE_17754
17755,17755,17755,17755,17755,17755,17755,17755,8751,Laryngeal cleft,HPO,phenotype,PHENOTYPE_17755
17756,17756,17756,17756,17756,17756,17756,17756,7973,Retinal dysplasia,HPO,phenotype,PHENOTYPE_17756
17757,17757,17757,17757,17757,17757,17757,17757,20189,Posterior predominant thick cortex pachygyria,HPO,phenotype,PHENOTYPE_17757
17758,17758,17758,17758,17758,17758,17758,17758,9684,Stippling of the epiphysis of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_17758
17759,17759,17759,17759,17759,17759,17759,17759,2953,Vertebral compression fracture,HPO,phenotype,PHENOTYPE_17759
17760,17760,17760,17760,17760,17760,17760,17760,25133,Abnormal serum estradiol,HPO,phenotype,PHENOTYPE_17760
17761,17761,17761,17761,17761,17761,17761,17761,10732,Nodular changes affecting the eyelids,HPO,phenotype,PHENOTYPE_17761
17762,17762,17762,17762,17762,17762,17762,17762,9602,Abnormality of thumb phalanx,HPO,phenotype,PHENOTYPE_17762
17763,17763,17763,17763,17763,17763,17763,17763,2922,Increased CSF protein concentration,HPO,phenotype,PHENOTYPE_17763
17764,17764,17764,17764,17764,17764,17764,17764,25248,Eruptive vellus hair cyst,HPO,phenotype,PHENOTYPE_17764
17765,17765,17765,17765,17765,17765,17765,17765,33922,Renal arteriole leukocytic endoarterial hypercellularity,HPO,phenotype,PHENOTYPE_17765
17766,17766,17766,17766,17766,17766,17766,17766,31006,Acroparesthesia,HPO,phenotype,PHENOTYPE_17766
17767,17767,17767,17767,17767,17767,17767,17767,4378,Abnormality of the anus,HPO,phenotype,PHENOTYPE_17767
17768,17768,17768,17768,17768,17768,17768,17768,500270,Increased proportion of gamma-delta T cells,HPO,phenotype,PHENOTYPE_17768
17769,17769,17769,17769,17769,17769,17769,17769,943,Dysostosis multiplex,HPO,phenotype,PHENOTYPE_17769
17770,17770,17770,17770,17770,17770,17770,17770,2694,Sclerosis of skull base,HPO,phenotype,PHENOTYPE_17770
17771,17771,17771,17771,17771,17771,17771,17771,7976,Cerulean cataract,HPO,phenotype,PHENOTYPE_17771
17772,17772,17772,17772,17772,17772,17772,17772,629,Periorbital fullness,HPO,phenotype,PHENOTYPE_17772
17773,17773,17773,17773,17773,17773,17773,17773,11635,Partial diaphragmatic absence of pericardium,HPO,phenotype,PHENOTYPE_17773
17774,17774,17774,17774,17774,17774,17774,17774,40324,Heliotrope rash,HPO,phenotype,PHENOTYPE_17774
17775,17775,17775,17775,17775,17775,17775,17775,20220,Focal atonic seizure,HPO,phenotype,PHENOTYPE_17775
17776,17776,17776,17776,17776,17776,17776,17776,6581,Depletion of mitochondrial DNA in liver,HPO,phenotype,PHENOTYPE_17776
17777,17777,17777,17777,17777,17777,17777,17777,34599,Decreased circulating biotin concentration,HPO,phenotype,PHENOTYPE_17777
17778,17778,17778,17778,17778,17778,17778,17778,1133,Constriction of peripheral visual field,HPO,phenotype,PHENOTYPE_17778
17779,17779,17779,17779,17779,17779,17779,17779,6000356,Reduced tissue medium-chain acyl-CoA dehydrogenase activity,HPO,phenotype,PHENOTYPE_17779
17780,17780,17780,17780,17780,17780,17780,17780,10470,Supernumerary testes,HPO,phenotype,PHENOTYPE_17780
17781,17781,17781,17781,17781,17781,17781,17781,343,Long philtrum,HPO,phenotype,PHENOTYPE_17781
17782,17782,17782,17782,17782,17782,17782,17782,33660,Hand paresthesia,HPO,phenotype,PHENOTYPE_17782
17783,17783,17783,17783,17783,17783,17783,17783,4933,Ascending aortic dissection,HPO,phenotype,PHENOTYPE_17783
17784,17784,17784,17784,17784,17784,17784,17784,10719,Abnormality of hair texture,HPO,phenotype,PHENOTYPE_17784
17785,17785,17785,17785,17785,17785,17785,17785,9845,Bullet-shaped middle phalanges of the hand,HPO,phenotype,PHENOTYPE_17785
17786,17786,17786,17786,17786,17786,17786,17786,6000322,Absent axon flare response after intradermal histamine injection,HPO,phenotype,PHENOTYPE_17786
17787,17787,17787,17787,17787,17787,17787,17787,33784,Dentin dysplasia,HPO,phenotype,PHENOTYPE_17787
17788,17788,17788,17788,17788,17788,17788,17788,1895,Normochromic anemia,HPO,phenotype,PHENOTYPE_17788
17789,17789,17789,17789,17789,17789,17789,17789,34574,Reduced epidermal keratin 10 protein expression,HPO,phenotype,PHENOTYPE_17789
17790,17790,17790,17790,17790,17790,17790,17790,12289,Facial neoplasm,HPO,phenotype,PHENOTYPE_17790
17791,17791,17791,17791,17791,17791,17791,17791,100129,Pseudoepiphysis of the proximal phalanx of the 2nd toe,HPO,phenotype,PHENOTYPE_17791
17792,17792,17792,17792,17792,17792,17792,17792,30614,Foveal photoreceptor layer loss on macular OCT,HPO,phenotype,PHENOTYPE_17792
17793,17793,17793,17793,17793,17793,17793,17793,4000051,Closed fracture,HPO,phenotype,PHENOTYPE_17793
17794,17794,17794,17794,17794,17794,17794,17794,11912,Abnormality of the glenoid fossa,HPO,phenotype,PHENOTYPE_17794
17795,17795,17795,17795,17795,17795,17795,17795,11831,Deviated nasal tip,HPO,phenotype,PHENOTYPE_17795
17796,17796,17796,17796,17796,17796,17796,17796,34164,Abnormal circulating interleukin 21 concentration,HPO,phenotype,PHENOTYPE_17796
17797,17797,17797,17797,17797,17797,17797,17797,41044,Low neutrophil alkaline phosphatase,HPO,phenotype,PHENOTYPE_17797
17798,17798,17798,17798,17798,17798,17798,17798,6000546,Positive human Immunodeficiency virus nucleic acid test in the blood circulation,HPO,phenotype,PHENOTYPE_17798
17799,17799,17799,17799,17799,17799,17799,17799,11501,Anterior lenticonus,HPO,phenotype,PHENOTYPE_17799
17800,17800,17800,17800,17800,17800,17800,17800,6000497,Anti-factor XI antibody positivity,HPO,phenotype,PHENOTYPE_17800
17801,17801,17801,17801,17801,17801,17801,17801,6000106,Costovertebral angle tenderness,HPO,phenotype,PHENOTYPE_17801
17802,17802,17802,17802,17802,17802,17802,17802,1501,6 metacarpals,HPO,phenotype,PHENOTYPE_17802
17803,17803,17803,17803,17803,17803,17803,17803,31254,Thalamic arteriovenous malformation,HPO,phenotype,PHENOTYPE_17803
17804,17804,17804,17804,17804,17804,17804,17804,12368,Flat face,HPO,phenotype,PHENOTYPE_17804
17805,17805,17805,17805,17805,17805,17805,17805,30951,Skeletal muscle fibrosis,HPO,phenotype,PHENOTYPE_17805
17806,17806,17806,17806,17806,17806,17806,17806,7380,Facial telangiectasia,HPO,phenotype,PHENOTYPE_17806
17807,17807,17807,17807,17807,17807,17807,17807,10318,Aplasia/Hypoplasia of the abdominal wall musculature,HPO,phenotype,PHENOTYPE_17807
17808,17808,17808,17808,17808,17808,17808,17808,542,Impaired ocular adduction,HPO,phenotype,PHENOTYPE_17808
17809,17809,17809,17809,17809,17809,17809,17809,10,Recurrent urinary tract infections,HPO,phenotype,PHENOTYPE_17809
17810,17810,17810,17810,17810,17810,17810,17810,11303,Convex contour of sole,HPO,phenotype,PHENOTYPE_17810
17811,17811,17811,17811,17811,17811,17811,17811,1620,Abnormally high-pitched voice,HPO,phenotype,PHENOTYPE_17811
17812,17812,17812,17812,17812,17812,17812,17812,9421,Aplasia/Hypoplasia of the distal phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_17812
17813,17813,17813,17813,17813,17813,17813,17813,410376,Increased proportion of naive CD8 T cells,HPO,phenotype,PHENOTYPE_17813
17814,17814,17814,17814,17814,17814,17814,17814,31438,Abnormal sex hormone-binding globulin level,HPO,phenotype,PHENOTYPE_17814
17815,17815,17815,17815,17815,17815,17815,17815,32636,Tubulointerstitial viral infiltration,HPO,phenotype,PHENOTYPE_17815
17816,17816,17816,17816,17816,17816,17816,17816,100011,Scleral schwannoma,HPO,phenotype,PHENOTYPE_17816
17817,17817,17817,17817,17817,17817,17817,17817,6001167,Discoid adrenal gland,HPO,phenotype,PHENOTYPE_17817
17818,17818,17818,17818,17818,17818,17818,17818,7552,Abnormal subcutaneous fat tissue distribution,HPO,phenotype,PHENOTYPE_17818
17819,17819,17819,17819,17819,17819,17819,17819,25249,Comedo,HPO,phenotype,PHENOTYPE_17819
17820,17820,17820,17820,17820,17820,17820,17820,100760,Clubbing of toes,HPO,phenotype,PHENOTYPE_17820
17821,17821,17821,17821,17821,17821,17821,17821,5236,Chronic calcifying pancreatitis,HPO,phenotype,PHENOTYPE_17821
17822,17822,17822,17822,17822,17822,17822,17822,993,Molluscoid pseudotumors,HPO,phenotype,PHENOTYPE_17822
17823,17823,17823,17823,17823,17823,17823,17823,10675,Abnormal foot bone ossification,HPO,phenotype,PHENOTYPE_17823
17824,17824,17824,17824,17824,17824,17824,17824,32643,Renal interstitial non-necrotizing granulomas,HPO,phenotype,PHENOTYPE_17824
17825,17825,17825,17825,17825,17825,17825,17825,9520,Pseudoepiphysis of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_17825
17826,17826,17826,17826,17826,17826,17826,17826,34131,Anti-GT1b antibody positivity,HPO,phenotype,PHENOTYPE_17826
17827,17827,17827,17827,17827,17827,17827,17827,9310,Broad proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_17827
17828,17828,17828,17828,17828,17828,17828,17828,6001124,Sphenoid wing dysplasia,HPO,phenotype,PHENOTYPE_17828
17829,17829,17829,17829,17829,17829,17829,17829,10936,Abnormality of the lower urinary tract,HPO,phenotype,PHENOTYPE_17829
17830,17830,17830,17830,17830,17830,17830,17830,12224,Circulating immune complexes,HPO,phenotype,PHENOTYPE_17830
17831,17831,17831,17831,17831,17831,17831,17831,6001101,crossed brainstem sign,HPO,phenotype,PHENOTYPE_17831
17832,17832,17832,17832,17832,17832,17832,17832,410365,Increased disialylated core 1 O-glycan level,HPO,phenotype,PHENOTYPE_17832
17833,17833,17833,17833,17833,17833,17833,17833,8290,Partial complement factor H deficiency,HPO,phenotype,PHENOTYPE_17833
17834,17834,17834,17834,17834,17834,17834,17834,31441,Abnormal tricuspid valve annulus morphology,HPO,phenotype,PHENOTYPE_17834
17835,17835,17835,17835,17835,17835,17835,17835,32701,Focal cognitive seizure with anomia,HPO,phenotype,PHENOTYPE_17835
17836,17836,17836,17836,17836,17836,17836,17836,5011,Mesomelic arm shortening,HPO,phenotype,PHENOTYPE_17836
17837,17837,17837,17837,17837,17837,17837,17837,25676,Fetal pleural effusion,HPO,phenotype,PHENOTYPE_17837
17838,17838,17838,17838,17838,17838,17838,17838,9489,Bracket epiphyses of the 2nd finger,HPO,phenotype,PHENOTYPE_17838
17839,17839,17839,17839,17839,17839,17839,17839,32711,Focal aware clonic seizure,HPO,phenotype,PHENOTYPE_17839
17840,17840,17840,17840,17840,17840,17840,17840,6000634,Exacerbated by opiate medication,HPO,phenotype,PHENOTYPE_17840
17841,17841,17841,17841,17841,17841,17841,17841,6000627,Rest limb pain,HPO,phenotype,PHENOTYPE_17841
17842,17842,17842,17842,17842,17842,17842,17842,11841,Ventricular flutter,HPO,phenotype,PHENOTYPE_17842
17843,17843,17843,17843,17843,17843,17843,17843,34232,Unilateral lump kidney,HPO,phenotype,PHENOTYPE_17843
17844,17844,17844,17844,17844,17844,17844,17844,34101,Anti-annexin-V antibody positivity,HPO,phenotype,PHENOTYPE_17844
17845,17845,17845,17845,17845,17845,17845,17845,6431,Abnormal proximal femoral metaphysis morphology,HPO,phenotype,PHENOTYPE_17845
17846,17846,17846,17846,17846,17846,17846,17846,25090,Abnormal large intestinal mucosa morphology,HPO,phenotype,PHENOTYPE_17846
17847,17847,17847,17847,17847,17847,17847,17847,7400,Irregular hyperpigmentation,HPO,phenotype,PHENOTYPE_17847
17848,17848,17848,17848,17848,17848,17848,17848,33205,Biceps hyperreflexia,HPO,phenotype,PHENOTYPE_17848
17849,17849,17849,17849,17849,17849,17849,17849,9883,Duplication of the distal phalanx of hand,HPO,phenotype,PHENOTYPE_17849
17850,17850,17850,17850,17850,17850,17850,17850,30834,Shoulder pain,HPO,phenotype,PHENOTYPE_17850
17851,17851,17851,17851,17851,17851,17851,17851,34184,Increased insulin like growth factor binding protein acid labile subunit concentration,HPO,phenotype,PHENOTYPE_17851
17852,17852,17852,17852,17852,17852,17852,17852,32444,Status post organ transplantation,HPO,phenotype,PHENOTYPE_17852
17853,17853,17853,17853,17853,17853,17853,17853,100319,Cerebral hyaline bodies,HPO,phenotype,PHENOTYPE_17853
17854,17854,17854,17854,17854,17854,17854,17854,430058,Anti-herpes simplex antibody positivity,HPO,phenotype,PHENOTYPE_17854
17855,17855,17855,17855,17855,17855,17855,17855,10444,Pulmonic regurgitation,HPO,phenotype,PHENOTYPE_17855
17856,17856,17856,17856,17856,17856,17856,17856,10727,Spontaneous rupture of the globe,HPO,phenotype,PHENOTYPE_17856
17857,17857,17857,17857,17857,17857,17857,17857,25417,Patulous urethra,HPO,phenotype,PHENOTYPE_17857
17858,17858,17858,17858,17858,17858,17858,17858,6000337,Thinned small intestinal mucosa,HPO,phenotype,PHENOTYPE_17858
17859,17859,17859,17859,17859,17859,17859,17859,5323,Hemifacial hypertrophy,HPO,phenotype,PHENOTYPE_17859
17860,17860,17860,17860,17860,17860,17860,17860,33869,Medullary peritubular capillary lumen cholesterol emboli,HPO,phenotype,PHENOTYPE_17860
17861,17861,17861,17861,17861,17861,17861,17861,7459,Generalized anhidrosis,HPO,phenotype,PHENOTYPE_17861
17862,17862,17862,17862,17862,17862,17862,17862,11119,Abnormal nasal dorsum morphology,HPO,phenotype,PHENOTYPE_17862
17863,17863,17863,17863,17863,17863,17863,17863,1955,Unexplained fevers,HPO,phenotype,PHENOTYPE_17863
17864,17864,17864,17864,17864,17864,17864,17864,11464,Aganglionosis of the small intestine,HPO,phenotype,PHENOTYPE_17864
17865,17865,17865,17865,17865,17865,17865,17865,6000268,Elevated circulating pipecolic acid concentration,HPO,phenotype,PHENOTYPE_17865
17866,17866,17866,17866,17866,17866,17866,17866,11658,Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis,HPO,phenotype,PHENOTYPE_17866
17867,17867,17867,17867,17867,17867,17867,17867,8424,Hypoplastic 5th lumbar vertebrae,HPO,phenotype,PHENOTYPE_17867
17868,17868,17868,17868,17868,17868,17868,17868,11042,Abnormal circulating potassium concentration,HPO,phenotype,PHENOTYPE_17868
17869,17869,17869,17869,17869,17869,17869,17869,6000168,History of recent central venous catheter,HPO,phenotype,PHENOTYPE_17869
17870,17870,17870,17870,17870,17870,17870,17870,11074,Localized hypoplasia of dental enamel,HPO,phenotype,PHENOTYPE_17870
17871,17871,17871,17871,17871,17871,17871,17871,33636,Combined pre- and post-capillary pulmonary hypertension,HPO,phenotype,PHENOTYPE_17871
17872,17872,17872,17872,17872,17872,17872,17872,12242,Superior rectus atrophy,HPO,phenotype,PHENOTYPE_17872
17873,17873,17873,17873,17873,17873,17873,17873,887,Cupped ribs,HPO,phenotype,PHENOTYPE_17873
17874,17874,17874,17874,17874,17874,17874,17874,5200309,Short N3 sleep,HPO,phenotype,PHENOTYPE_17874
17875,17875,17875,17875,17875,17875,17875,17875,32023,Eosinophilic gallbladder infiltration,HPO,phenotype,PHENOTYPE_17875
17876,17876,17876,17876,17876,17876,17876,17876,7542,Absent pigmentation of the ventral chest,HPO,phenotype,PHENOTYPE_17876
17877,17877,17877,17877,17877,17877,17877,17877,33133,Renal cortical hypoechogeneity,HPO,phenotype,PHENOTYPE_17877
17878,17878,17878,17878,17878,17878,17878,17878,8348,Decreased circulating IgG2 concentration,HPO,phenotype,PHENOTYPE_17878
17879,17879,17879,17879,17879,17879,17879,17879,9677,Cone-shaped epiphysis of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_17879
17880,17880,17880,17880,17880,17880,17880,17880,11077,Abnormality of molar,HPO,phenotype,PHENOTYPE_17880
17881,17881,17881,17881,17881,17881,17881,17881,5200019,Stereotypic whole-body movements,HPO,phenotype,PHENOTYPE_17881
17882,17882,17882,17882,17882,17882,17882,17882,107,Renal cyst,HPO,phenotype,PHENOTYPE_17882
17883,17883,17883,17883,17883,17883,17883,17883,2494,Abnormal rapid eye movement sleep,HPO,phenotype,PHENOTYPE_17883
17884,17884,17884,17884,17884,17884,17884,17884,32663,Focal motor status epilepticus,HPO,phenotype,PHENOTYPE_17884
17885,17885,17885,17885,17885,17885,17885,17885,25223,Triggered by smoking,HPO,phenotype,PHENOTYPE_17885
17886,17886,17886,17886,17886,17886,17886,17886,30011,Imperforate hymen,HPO,phenotype,PHENOTYPE_17886
17887,17887,17887,17887,17887,17887,17887,17887,20261,Poorly defined primary lymph-node follicles,HPO,phenotype,PHENOTYPE_17887
17888,17888,17888,17888,17888,17888,17888,17888,33153,Elevated circulating dodecenoylcarnitine concentration,HPO,phenotype,PHENOTYPE_17888
17889,17889,17889,17889,17889,17889,17889,17889,40282,Frequent,HPO,phenotype,PHENOTYPE_17889
17890,17890,17890,17890,17890,17890,17890,17890,32702,Focal cognitive seizure with expressive dysphasia/aphasia,HPO,phenotype,PHENOTYPE_17890
17891,17891,17891,17891,17891,17891,17891,17891,6625,Multifocal breast carcinoma,HPO,phenotype,PHENOTYPE_17891
17892,17892,17892,17892,17892,17892,17892,17892,10136,Stippling of the epiphysis of the proximal phalanx of the hallux,HPO,phenotype,PHENOTYPE_17892
17893,17893,17893,17893,17893,17893,17893,17893,25039,Basal ganglia edema,HPO,phenotype,PHENOTYPE_17893
17894,17894,17894,17894,17894,17894,17894,17894,20210,Praxis-induced seizure,HPO,phenotype,PHENOTYPE_17894
17895,17895,17895,17895,17895,17895,17895,17895,6233,Osteoarthritis of the distal interphalangeal joint,HPO,phenotype,PHENOTYPE_17895
17896,17896,17896,17896,17896,17896,17896,17896,34773,Oscillopsia,HPO,phenotype,PHENOTYPE_17896
17897,17897,17897,17897,17897,17897,17897,17897,430077,Anti-coccidioidal antibody positivity,HPO,phenotype,PHENOTYPE_17897
17898,17898,17898,17898,17898,17898,17898,17898,11263,Forward facing earlobe,HPO,phenotype,PHENOTYPE_17898
17899,17899,17899,17899,17899,17899,17899,17899,10963,Absence of stomach bubble on fetal sonography,HPO,phenotype,PHENOTYPE_17899
17900,17900,17900,17900,17900,17900,17900,17900,32240,Elevated circulating E selectin level,HPO,phenotype,PHENOTYPE_17900
17901,17901,17901,17901,17901,17901,17901,17901,11924,Decreased activity of mitochondrial complex III,HPO,phenotype,PHENOTYPE_17901
17902,17902,17902,17902,17902,17902,17902,17902,4029,Lytic defects of radial diaphysis,HPO,phenotype,PHENOTYPE_17902
17903,17903,17903,17903,17903,17903,17903,17903,30929,1-minute APGAR score of 2,HPO,phenotype,PHENOTYPE_17903
17904,17904,17904,17904,17904,17904,17904,17904,6000352,Tachyphagia,HPO,phenotype,PHENOTYPE_17904
17905,17905,17905,17905,17905,17905,17905,17905,100155,Stippling of the epiphysis of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_17905
17906,17906,17906,17906,17906,17906,17906,17906,10815,Nevus sebaceous,HPO,phenotype,PHENOTYPE_17906
17907,17907,17907,17907,17907,17907,17907,17907,11537,Left atrial isomerism,HPO,phenotype,PHENOTYPE_17907
17908,17908,17908,17908,17908,17908,17908,17908,11714,Libman-Sacks lesions,HPO,phenotype,PHENOTYPE_17908
17909,17909,17909,17909,17909,17909,17909,17909,10354,Triangular shaped phalanges of the 2nd toe,HPO,phenotype,PHENOTYPE_17909
17910,17910,17910,17910,17910,17910,17910,17910,25764,Nasoethmoidal encephalocele,HPO,phenotype,PHENOTYPE_17910
17911,17911,17911,17911,17911,17911,17911,17911,100225,Bracket epiphysis of the proximal phalanx of the 5th toe,HPO,phenotype,PHENOTYPE_17911
17912,17912,17912,17912,17912,17912,17912,17912,12626,Stage 4 chronic kidney disease,HPO,phenotype,PHENOTYPE_17912
17913,17913,17913,17913,17913,17913,17913,17913,8066,Abnormal blistering of the skin,HPO,phenotype,PHENOTYPE_17913
17914,17914,17914,17914,17914,17914,17914,17914,500199,Abnormal CSF glutamate concentration,HPO,phenotype,PHENOTYPE_17914
17915,17915,17915,17915,17915,17915,17915,17915,31488,Arteriovenous malformation of the lip,HPO,phenotype,PHENOTYPE_17915
17916,17916,17916,17916,17916,17916,17916,17916,34408,Solitary angiokeratoma,HPO,phenotype,PHENOTYPE_17916
17917,17917,17917,17917,17917,17917,17917,17917,6337,Premature eruption of permanent teeth,HPO,phenotype,PHENOTYPE_17917
17918,17918,17918,17918,17918,17918,17918,17918,3215,Dicarboxylic aciduria,HPO,phenotype,PHENOTYPE_17918
17919,17919,17919,17919,17919,17919,17919,17919,33231,Abnormal glomerular mesangial cellularity,HPO,phenotype,PHENOTYPE_17919
17920,17920,17920,17920,17920,17920,17920,17920,9765,Low hanging columella,HPO,phenotype,PHENOTYPE_17920
17921,17921,17921,17921,17921,17921,17921,17921,34019,Anti-HLA-A antibody positivity,HPO,phenotype,PHENOTYPE_17921
17922,17922,17922,17922,17922,17922,17922,17922,12103,Abnormality of the mitochondrion,HPO,phenotype,PHENOTYPE_17922
17923,17923,17923,17923,17923,17923,17923,17923,20176,Cholesterol crystalluria,HPO,phenotype,PHENOTYPE_17923
17924,17924,17924,17924,17924,17924,17924,17924,6000829,Reduced tissue glycine cleavage enzyme activity,HPO,phenotype,PHENOTYPE_17924
17925,17925,17925,17925,17925,17925,17925,17925,348,High forehead,HPO,phenotype,PHENOTYPE_17925
17926,17926,17926,17926,17926,17926,17926,17926,4017,Exostoses of the radial metaphysis,HPO,phenotype,PHENOTYPE_17926
17927,17927,17927,17927,17927,17927,17927,17927,34455,Increased CSF taurine concentration,HPO,phenotype,PHENOTYPE_17927
17928,17928,17928,17928,17928,17928,17928,17928,30047,Abnormal lateral ventricle morphology,HPO,phenotype,PHENOTYPE_17928
17929,17929,17929,17929,17929,17929,17929,17929,4812,B Acute Lymphoblastic Leukemia,HPO,phenotype,PHENOTYPE_17929
17930,17930,17930,17930,17930,17930,17930,17930,729,Autistic behavior,HPO,phenotype,PHENOTYPE_17930
17931,17931,17931,17931,17931,17931,17931,17931,2376,Developmental regression,HPO,phenotype,PHENOTYPE_17931
17932,17932,17932,17932,17932,17932,17932,17932,9831,Mononeuropathy,HPO,phenotype,PHENOTYPE_17932
17933,17933,17933,17933,17933,17933,17933,17933,30365,Vaginal birth after Caesarean,HPO,phenotype,PHENOTYPE_17933
17934,17934,17934,17934,17934,17934,17934,17934,11487,Increased corneal thickness,HPO,phenotype,PHENOTYPE_17934
17935,17935,17935,17935,17935,17935,17935,17935,11250,Bifid antitragus,HPO,phenotype,PHENOTYPE_17935
17936,17936,17936,17936,17936,17936,17936,17936,5764,Polyarticular arthritis,HPO,phenotype,PHENOTYPE_17936
17937,17937,17937,17937,17937,17937,17937,17937,1669,Transposition of the great arteries,HPO,phenotype,PHENOTYPE_17937
17938,17938,17938,17938,17938,17938,17938,17938,4466,Delayed brainstem auditory evoked response conduction time,HPO,phenotype,PHENOTYPE_17938
17939,17939,17939,17939,17939,17939,17939,17939,41221,Fractured head of femur,HPO,phenotype,PHENOTYPE_17939
17940,17940,17940,17940,17940,17940,17940,17940,11683,Restrictive ventricular septal defect,HPO,phenotype,PHENOTYPE_17940
17941,17941,17941,17941,17941,17941,17941,17941,9313,Patchy sclerosis of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_17941
17942,17942,17942,17942,17942,17942,17942,17942,9518,Irregular epiphysis of the middle phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_17942
17943,17943,17943,17943,17943,17943,17943,17943,3323,Progressive muscle weakness,HPO,phenotype,PHENOTYPE_17943
17944,17944,17944,17944,17944,17944,17944,17944,6000563,Reduced sepiapterin reductase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_17944
17945,17945,17945,17945,17945,17945,17945,17945,12207,Reduced sperm motility,HPO,phenotype,PHENOTYPE_17945
17946,17946,17946,17946,17946,17946,17946,17946,2139,Arrhinencephaly,HPO,phenotype,PHENOTYPE_17946
17947,17947,17947,17947,17947,17947,17947,17947,33852,Abnormal intrarenal vein morphology,HPO,phenotype,PHENOTYPE_17947
17948,17948,17948,17948,17948,17948,17948,17948,1034,Hypermelanotic macule,HPO,phenotype,PHENOTYPE_17948
17949,17949,17949,17949,17949,17949,17949,17949,4000210,Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_17949
17950,17950,17950,17950,17950,17950,17950,17950,527,Long eyelashes,HPO,phenotype,PHENOTYPE_17950
17951,17951,17951,17951,17951,17951,17951,17951,34076,Anti-ribosome Po antibody positivity,HPO,phenotype,PHENOTYPE_17951
17952,17952,17952,17952,17952,17952,17952,17952,34646,Urinary bladder neurofibroma,HPO,phenotype,PHENOTYPE_17952
17953,17953,17953,17953,17953,17953,17953,17953,5000019,Anti-Kelch like protein 11 antibody positivity,HPO,phenotype,PHENOTYPE_17953
17954,17954,17954,17954,17954,17954,17954,17954,10276,Small epiphyses of the proximal phalanges of the hand,HPO,phenotype,PHENOTYPE_17954
17955,17955,17955,17955,17955,17955,17955,17955,10372,Broad phalanges of the 4th toe,HPO,phenotype,PHENOTYPE_17955
17956,17956,17956,17956,17956,17956,17956,17956,100419,Partial duplication of the middle phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_17956
17957,17957,17957,17957,17957,17957,17957,17957,200017,Cerebral white matter agenesis,HPO,phenotype,PHENOTYPE_17957
17958,17958,17958,17958,17958,17958,17958,17958,20145,Calcium oxalate crystalluria,HPO,phenotype,PHENOTYPE_17958
17959,17959,17959,17959,17959,17959,17959,17959,4000006,Elevated myocardial native T1,HPO,phenotype,PHENOTYPE_17959
17960,17960,17960,17960,17960,17960,17960,17960,200011,Abnormal length of corpus callosum,HPO,phenotype,PHENOTYPE_17960
17961,17961,17961,17961,17961,17961,17961,17961,10239,Aplasia of the middle phalanx of the hand,HPO,phenotype,PHENOTYPE_17961
17962,17962,17962,17962,17962,17962,17962,17962,1892,Abnormal bleeding,HPO,phenotype,PHENOTYPE_17962
17963,17963,17963,17963,17963,17963,17963,17963,6000456,Sleep drunkeness,HPO,phenotype,PHENOTYPE_17963
17964,17964,17964,17964,17964,17964,17964,17964,11582,Abdominal ectopia cordis,HPO,phenotype,PHENOTYPE_17964
17965,17965,17965,17965,17965,17965,17965,17965,25747,Tongue spasticity,HPO,phenotype,PHENOTYPE_17965
17966,17966,17966,17966,17966,17966,17966,17966,32291,Monoclonal elevation of intact IgG,HPO,phenotype,PHENOTYPE_17966
17967,17967,17967,17967,17967,17967,17967,17967,100385,Aplasia of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_17967
17968,17968,17968,17968,17968,17968,17968,17968,6000065,Esophageal fibrosis,HPO,phenotype,PHENOTYPE_17968
17969,17969,17969,17969,17969,17969,17969,17969,31010,Hyperphalangy of the 3rd finger,HPO,phenotype,PHENOTYPE_17969
17970,17970,17970,17970,17970,17970,17970,17970,7453,Flexural lichenification,HPO,phenotype,PHENOTYPE_17970
17971,17971,17971,17971,17971,17971,17971,17971,31507,Decreased circulating T4 concentration,HPO,phenotype,PHENOTYPE_17971
17972,17972,17972,17972,17972,17972,17972,17972,11915,Cardiovascular calcification,HPO,phenotype,PHENOTYPE_17972
17973,17973,17973,17973,17973,17973,17973,17973,10662,Abnormal diencephalon morphology,HPO,phenotype,PHENOTYPE_17973
17974,17974,17974,17974,17974,17974,17974,17974,3000002,Abnormal inner ear epithelium morphology,HPO,phenotype,PHENOTYPE_17974
17975,17975,17975,17975,17975,17975,17975,17975,3213,Deficient excision of UV-induced pyrimidine dimers in DNA,HPO,phenotype,PHENOTYPE_17975
17976,17976,17976,17976,17976,17976,17976,17976,33048,Substantia nigra hypointensity on susceptibility-weighted imaging,HPO,phenotype,PHENOTYPE_17976
17977,17977,17977,17977,17977,17977,17977,17977,33054,Myoclonic tremor,HPO,phenotype,PHENOTYPE_17977
17978,17978,17978,17978,17978,17978,17978,17978,35014,Extrahepatic bile duct fibrosis,HPO,phenotype,PHENOTYPE_17978
17979,17979,17979,17979,17979,17979,17979,17979,10456,Abnormal greater sciatic notch morphology,HPO,phenotype,PHENOTYPE_17979
17980,17980,17980,17980,17980,17980,17980,17980,1320,Cerebellar vermis hypoplasia,HPO,phenotype,PHENOTYPE_17980
17981,17981,17981,17981,17981,17981,17981,17981,12813,Unilateral breast hypoplasia,HPO,phenotype,PHENOTYPE_17981
17982,17982,17982,17982,17982,17982,17982,17982,31581,Tessier number 9 facial cleft,HPO,phenotype,PHENOTYPE_17982
17983,17983,17983,17983,17983,17983,17983,17983,100035,Phonic tics,HPO,phenotype,PHENOTYPE_17983
17984,17984,17984,17984,17984,17984,17984,17984,890,Long clavicles,HPO,phenotype,PHENOTYPE_17984
17985,17985,17985,17985,17985,17985,17985,17985,1374,Congenital hip dislocation,HPO,phenotype,PHENOTYPE_17985
17986,17986,17986,17986,17986,17986,17986,17986,3613,Antiphospholipid antibody positivity,HPO,phenotype,PHENOTYPE_17986
17987,17987,17987,17987,17987,17987,17987,17987,12311,Monocytosis,HPO,phenotype,PHENOTYPE_17987
17988,17988,17988,17988,17988,17988,17988,17988,31511,Diagonal earlobe crease,HPO,phenotype,PHENOTYPE_17988
17989,17989,17989,17989,17989,17989,17989,17989,1998,Neonatal hypoglycemia,HPO,phenotype,PHENOTYPE_17989
17990,17990,17990,17990,17990,17990,17990,17990,4993,Slender long bones with narrow diaphyses,HPO,phenotype,PHENOTYPE_17990
17991,17991,17991,17991,17991,17991,17991,17991,11363,Abnormality of hair growth rate,HPO,phenotype,PHENOTYPE_17991
17992,17992,17992,17992,17992,17992,17992,17992,4570,Increased vertebral height,HPO,phenotype,PHENOTYPE_17992
17993,17993,17993,17993,17993,17993,17993,17993,4000166,Post-vaccination varicella zoster virus infection,HPO,phenotype,PHENOTYPE_17993
17994,17994,17994,17994,17994,17994,17994,17994,10264,Pseudoepiphyses of the middle phalanges of the hand,HPO,phenotype,PHENOTYPE_17994
17995,17995,17995,17995,17995,17995,17995,17995,11379,Dilated vestibule of the inner ear,HPO,phenotype,PHENOTYPE_17995
17996,17996,17996,17996,17996,17996,17996,17996,30046,Hypoglycosylation of alpha-dystroglycan,HPO,phenotype,PHENOTYPE_17996
17997,17997,17997,17997,17997,17997,17997,17997,6247,Enlarged interphalangeal joints,HPO,phenotype,PHENOTYPE_17997
17998,17998,17998,17998,17998,17998,17998,17998,25383,Dorsocervical fat pad,HPO,phenotype,PHENOTYPE_17998
17999,17999,17999,17999,17999,17999,17999,17999,7098,Paroxysmal choreoathetosis,HPO,phenotype,PHENOTYPE_17999
18000,18000,18000,18000,18000,18000,18000,18000,20214,Startle-induced seizure,HPO,phenotype,PHENOTYPE_18000
18001,18001,18001,18001,18001,18001,18001,18001,10950,Abnormal fourth ventricle morphology,HPO,phenotype,PHENOTYPE_18001
18002,18002,18002,18002,18002,18002,18002,18002,11211,EEG with photoparoxysmal response grade I,HPO,phenotype,PHENOTYPE_18002
18003,18003,18003,18003,18003,18003,18003,18003,31084,Excessive insulin response to glucagon test,HPO,phenotype,PHENOTYPE_18003
18004,18004,18004,18004,18004,18004,18004,18004,30581,Pinhole visual acuity 1.3 LogMAR,HPO,phenotype,PHENOTYPE_18004
18005,18005,18005,18005,18005,18005,18005,18005,25033,Abnormal digestive system morphology,HPO,phenotype,PHENOTYPE_18005
18006,18006,18006,18006,18006,18006,18006,18006,10469,Absent testis,HPO,phenotype,PHENOTYPE_18006
18007,18007,18007,18007,18007,18007,18007,18007,1746,Asplenia,HPO,phenotype,PHENOTYPE_18007
18008,18008,18008,18008,18008,18008,18008,18008,32829,Neonatal electro-clinical motor seizure with automatism,HPO,phenotype,PHENOTYPE_18008
18009,18009,18009,18009,18009,18009,18009,18009,410331,Nut food product allergy,HPO,phenotype,PHENOTYPE_18009
18010,18010,18010,18010,18010,18010,18010,18010,6692,Short chordae tendineae of the tricuspid valve,HPO,phenotype,PHENOTYPE_18010
18011,18011,18011,18011,18011,18011,18011,18011,30357,Small cell lung carcinoma,HPO,phenotype,PHENOTYPE_18011
18012,18012,18012,18012,18012,18012,18012,18012,6000049,Chest pain described as ripping or tearing,HPO,phenotype,PHENOTYPE_18012
18013,18013,18013,18013,18013,18013,18013,18013,964,Eczematoid dermatitis,HPO,phenotype,PHENOTYPE_18013
18014,18014,18014,18014,18014,18014,18014,18014,25135,Abnormal serum estriol,HPO,phenotype,PHENOTYPE_18014
18015,18015,18015,18015,18015,18015,18015,18015,6339,Conical mandibular incisor,HPO,phenotype,PHENOTYPE_18015
18016,18016,18016,18016,18016,18016,18016,18016,4329,Abnormal posterior eye segment morphology,HPO,phenotype,PHENOTYPE_18016
18017,18017,18017,18017,18017,18017,18017,18017,3571,Propionic acidemia,HPO,phenotype,PHENOTYPE_18017
18018,18018,18018,18018,18018,18018,18018,18018,12422,Villous hypertrophy of choroid plexus,HPO,phenotype,PHENOTYPE_18018
18019,18019,18019,18019,18019,18019,18019,18019,32724,Focal impaired awareness tonic seizure,HPO,phenotype,PHENOTYPE_18019
18020,18020,18020,18020,18020,18020,18020,18020,8468,Abnormal sacral segmentation,HPO,phenotype,PHENOTYPE_18020
18021,18021,18021,18021,18021,18021,18021,18021,10312,Asymmetry of the breasts,HPO,phenotype,PHENOTYPE_18021
18022,18022,18022,18022,18022,18022,18022,18022,2722,Recurrent abscess formation,HPO,phenotype,PHENOTYPE_18022
18023,18023,18023,18023,18023,18023,18023,18023,7437,Multiple cutaneous leiomyomas,HPO,phenotype,PHENOTYPE_18023
18024,18024,18024,18024,18024,18024,18024,18024,34053,Decreased acid ceramidase activity,HPO,phenotype,PHENOTYPE_18024
18025,18025,18025,18025,18025,18025,18025,18025,9617,Abnormality of the distal phalanx of the thumb,HPO,phenotype,PHENOTYPE_18025
18026,18026,18026,18026,18026,18026,18026,18026,100836,Malignant neoplasm of the central nervous system,HPO,phenotype,PHENOTYPE_18026
18027,18027,18027,18027,18027,18027,18027,18027,6000716,Terminal hepatic lobular vascular occlusion,HPO,phenotype,PHENOTYPE_18027
18028,18028,18028,18028,18028,18028,18028,18028,32384,Uniparental isodisomy,HPO,phenotype,PHENOTYPE_18028
18029,18029,18029,18029,18029,18029,18029,18029,12600,Abnormal urine chloride concentration,HPO,phenotype,PHENOTYPE_18029
18030,18030,18030,18030,18030,18030,18030,18030,11784,Thyrotoxicosis with diffuse goiter,HPO,phenotype,PHENOTYPE_18030
18031,18031,18031,18031,18031,18031,18031,18031,4000013,Anti-desmoglein-1 antibody positivity,HPO,phenotype,PHENOTYPE_18031
18032,18032,18032,18032,18032,18032,18032,18032,9820,Lower limb peromelia,HPO,phenotype,PHENOTYPE_18032
18033,18033,18033,18033,18033,18033,18033,18033,100058,Enlarged epiphyses of the 3rd toe,HPO,phenotype,PHENOTYPE_18033
18034,18034,18034,18034,18034,18034,18034,18034,31266,Podocyte foot process effacement,HPO,phenotype,PHENOTYPE_18034
18035,18035,18035,18035,18035,18035,18035,18035,3387,Decreased number of large peripheral myelinated nerve fibers,HPO,phenotype,PHENOTYPE_18035
18036,18036,18036,18036,18036,18036,18036,18036,32782,Focal impaired awareness autonomic seizure with lacrimation,HPO,phenotype,PHENOTYPE_18036
18037,18037,18037,18037,18037,18037,18037,18037,821,Hypothyroidism,HPO,phenotype,PHENOTYPE_18037
18038,18038,18038,18038,18038,18038,18038,18038,5314,Anomalous branches of internal carotid artery,HPO,phenotype,PHENOTYPE_18038
18039,18039,18039,18039,18039,18039,18039,18039,25674,Meconium pseudocyst,HPO,phenotype,PHENOTYPE_18039
18040,18040,18040,18040,18040,18040,18040,18040,5560,Imbalanced hemoglobin synthesis,HPO,phenotype,PHENOTYPE_18040
18041,18041,18041,18041,18041,18041,18041,18041,6591,Absent glenoid fossa,HPO,phenotype,PHENOTYPE_18041
18042,18042,18042,18042,18042,18042,18042,18042,11983,Brown pigment gallstones,HPO,phenotype,PHENOTYPE_18042
18043,18043,18043,18043,18043,18043,18043,18043,10574,Abnormality of the epiphysis of the femoral head,HPO,phenotype,PHENOTYPE_18043
18044,18044,18044,18044,18044,18044,18044,18044,3745,Sporadic,HPO,phenotype,PHENOTYPE_18044
18045,18045,18045,18045,18045,18045,18045,18045,5232,Pancreatic dysplasia,HPO,phenotype,PHENOTYPE_18045
18046,18046,18046,18046,18046,18046,18046,18046,12281,Chylous ascites,HPO,phenotype,PHENOTYPE_18046
18047,18047,18047,18047,18047,18047,18047,18047,6000098,Contact lens wearer,HPO,phenotype,PHENOTYPE_18047
18048,18048,18048,18048,18048,18048,18048,18048,5200276,Decreased need for sleep,HPO,phenotype,PHENOTYPE_18048
18049,18049,18049,18049,18049,18049,18049,18049,3378,Axonal degeneration/regeneration,HPO,phenotype,PHENOTYPE_18049
18050,18050,18050,18050,18050,18050,18050,18050,32803,Focal impaired awareness cognitive seizure with dysgraphia/agraphia,HPO,phenotype,PHENOTYPE_18050
18051,18051,18051,18051,18051,18051,18051,18051,32510,Tendon pain,HPO,phenotype,PHENOTYPE_18051
18052,18052,18052,18052,18052,18052,18052,18052,34565,Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level,HPO,phenotype,PHENOTYPE_18052
18053,18053,18053,18053,18053,18053,18053,18053,2871,Central apnea,HPO,phenotype,PHENOTYPE_18053
18054,18054,18054,18054,18054,18054,18054,18054,30117,Absent muscle fiber emerin,HPO,phenotype,PHENOTYPE_18054
18055,18055,18055,18055,18055,18055,18055,18055,32554,Absent pulse,HPO,phenotype,PHENOTYPE_18055
18056,18056,18056,18056,18056,18056,18056,18056,10366,Triangular shaped phalanges of the 3rd toe,HPO,phenotype,PHENOTYPE_18056
18057,18057,18057,18057,18057,18057,18057,18057,33656,Juxtaphrenic peak,HPO,phenotype,PHENOTYPE_18057
18058,18058,18058,18058,18058,18058,18058,18058,1531,Failure to thrive in infancy,HPO,phenotype,PHENOTYPE_18058
18059,18059,18059,18059,18059,18059,18059,18059,6000085,Angulation of penis,HPO,phenotype,PHENOTYPE_18059
18060,18060,18060,18060,18060,18060,18060,18060,757,Lack of insight,HPO,phenotype,PHENOTYPE_18060
18061,18061,18061,18061,18061,18061,18061,18061,7301,Oromotor apraxia,HPO,phenotype,PHENOTYPE_18061
18062,18062,18062,18062,18062,18062,18062,18062,100709,Reduction of oligodendroglia,HPO,phenotype,PHENOTYPE_18062
18063,18063,18063,18063,18063,18063,18063,18063,5200005,Abnormal pitch,HPO,phenotype,PHENOTYPE_18063
18064,18064,18064,18064,18064,18064,18064,18064,100816,Lip hyperpigmentation,HPO,phenotype,PHENOTYPE_18064
18065,18065,18065,18065,18065,18065,18065,18065,9232,Symphalangism affecting the proximal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_18065
18066,18066,18066,18066,18066,18066,18066,18066,32000,Pleural rub,HPO,phenotype,PHENOTYPE_18066
18067,18067,18067,18067,18067,18067,18067,18067,9270,Stippling of the epiphysis of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_18067
18068,18068,18068,18068,18068,18068,18068,18068,33619,Typical perifissural nodule,HPO,phenotype,PHENOTYPE_18068
18069,18069,18069,18069,18069,18069,18069,18069,6000612,Squamosal suture synostosis,HPO,phenotype,PHENOTYPE_18069
18070,18070,18070,18070,18070,18070,18070,18070,9988,Duplication of the distal phalanx of the 5th finger,HPO,phenotype,PHENOTYPE_18070
18071,18071,18071,18071,18071,18071,18071,18071,33703,Dysembryoplastic neuroepithelial tumor,HPO,phenotype,PHENOTYPE_18071
18072,18072,18072,18072,18072,18072,18072,18072,34952,Gangliocytoma,HPO,phenotype,PHENOTYPE_18072
18073,18073,18073,18073,18073,18073,18073,18073,30089,Abnormal muscle fiber protein expression,HPO,phenotype,PHENOTYPE_18073
18074,18074,18074,18074,18074,18074,18074,18074,5107,Abnormal sacrum morphology,HPO,phenotype,PHENOTYPE_18074
18075,18075,18075,18075,18075,18075,18075,18075,10987,Abnormal cellular immune system morphology,HPO,phenotype,PHENOTYPE_18075
18076,18076,18076,18076,18076,18076,18076,18076,33302,Elevated circulating 4-hydroxyphenylacetic acid concentration,HPO,phenotype,PHENOTYPE_18076
18077,18077,18077,18077,18077,18077,18077,18077,4000042,Fracture type,HPO,phenotype,PHENOTYPE_18077
18078,18078,18078,18078,18078,18078,18078,18078,41118,Fractured upper limb segment,HPO,phenotype,PHENOTYPE_18078
18079,18079,18079,18079,18079,18079,18079,18079,12160,Intracranial internal carotid artery dissection,HPO,phenotype,PHENOTYPE_18079
18080,18080,18080,18080,18080,18080,18080,18080,6490,Abnormal lower-limb metaphysis morphology,HPO,phenotype,PHENOTYPE_18080
18081,18081,18081,18081,18081,18081,18081,18081,6000081,Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts,HPO,phenotype,PHENOTYPE_18081
18082,18082,18082,18082,18082,18082,18082,18082,20191,Anterior predominant thick cortex pachygyria,HPO,phenotype,PHENOTYPE_18082
18083,18083,18083,18083,18083,18083,18083,18083,4252,Abnormal trapezium morphology,HPO,phenotype,PHENOTYPE_18083
18084,18084,18084,18084,18084,18084,18084,18084,32138,Decreased circulating IgG4 concentration,HPO,phenotype,PHENOTYPE_18084
18085,18085,18085,18085,18085,18085,18085,18085,32221,Periportal emperipolesis,HPO,phenotype,PHENOTYPE_18085
18086,18086,18086,18086,18086,18086,18086,18086,33309,Ileoileal intussusception,HPO,phenotype,PHENOTYPE_18086
18087,18087,18087,18087,18087,18087,18087,18087,12802,Broad jaw,HPO,phenotype,PHENOTYPE_18087
18088,18088,18088,18088,18088,18088,18088,18088,400008,Menometrorrhagia,HPO,phenotype,PHENOTYPE_18088
18089,18089,18089,18089,18089,18089,18089,18089,637,Long palpebral fissure,HPO,phenotype,PHENOTYPE_18089
18090,18090,18090,18090,18090,18090,18090,18090,9530,Ivory epiphysis of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_18090
18091,18091,18091,18091,18091,18091,18091,18091,100047,Enlarged epiphyses of the 2nd toe,HPO,phenotype,PHENOTYPE_18091
18092,18092,18092,18092,18092,18092,18092,18092,33631,Spondylitis,HPO,phenotype,PHENOTYPE_18092
18093,18093,18093,18093,18093,18093,18093,18093,11462,Young adult onset,HPO,phenotype,PHENOTYPE_18093
18094,18094,18094,18094,18094,18094,18094,18094,12082,Cerebellar Purkinje layer atrophy,HPO,phenotype,PHENOTYPE_18094
18095,18095,18095,18095,18095,18095,18095,18095,12468,Chronic acidosis,HPO,phenotype,PHENOTYPE_18095
18096,18096,18096,18096,18096,18096,18096,18096,25192,Subtentorial periventricular white matter hyperdensity,HPO,phenotype,PHENOTYPE_18096
18097,18097,18097,18097,18097,18097,18097,18097,32920,Focal impaired awareness manual automatism seizure,HPO,phenotype,PHENOTYPE_18097
18098,18098,18098,18098,18098,18098,18098,18098,40080,Anteverted ears,HPO,phenotype,PHENOTYPE_18098
18099,18099,18099,18099,18099,18099,18099,18099,3000056,Abnormality of artery of lower lip,HPO,phenotype,PHENOTYPE_18099
18100,18100,18100,18100,18100,18100,18100,18100,9707,Synostosis involving the 4th metacarpal,HPO,phenotype,PHENOTYPE_18100
18101,18101,18101,18101,18101,18101,18101,18101,1054,Numerous nevi,HPO,phenotype,PHENOTYPE_18101
18102,18102,18102,18102,18102,18102,18102,18102,6361,Irregular femoral epiphysis,HPO,phenotype,PHENOTYPE_18102
18103,18103,18103,18103,18103,18103,18103,18103,30270,Elevated red cell adenosine deaminase activity,HPO,phenotype,PHENOTYPE_18103
18104,18104,18104,18104,18104,18104,18104,18104,31480,Abnormal mitral valve leaflet morphology,HPO,phenotype,PHENOTYPE_18104
18105,18105,18105,18105,18105,18105,18105,18105,34911,Decreased circulating apolipoprotein E concentration,HPO,phenotype,PHENOTYPE_18105
18106,18106,18106,18106,18106,18106,18106,18106,6000372,Elevated CSF D-glyceric acid concentration,HPO,phenotype,PHENOTYPE_18106
18107,18107,18107,18107,18107,18107,18107,18107,12603,Abnormal urine sodium concentration,HPO,phenotype,PHENOTYPE_18107
18108,18108,18108,18108,18108,18108,18108,18108,6000359,Reduced muscle 6-phosphofructokinase activity,HPO,phenotype,PHENOTYPE_18108
18109,18109,18109,18109,18109,18109,18109,18109,12591,Abnormal urinary electrolyte concentration,HPO,phenotype,PHENOTYPE_18109
18110,18110,18110,18110,18110,18110,18110,18110,30451,Mesenteric cyst,HPO,phenotype,PHENOTYPE_18110
18111,18111,18111,18111,18111,18111,18111,18111,10220,Abnormality of the epiphysis of the 2nd metacarpal,HPO,phenotype,PHENOTYPE_18111
18112,18112,18112,18112,18112,18112,18112,18112,25219,Triggered by vaccination,HPO,phenotype,PHENOTYPE_18112
18113,18113,18113,18113,18113,18113,18113,18113,31975,Increased vertical cup-to-disc ratio - 0.7,HPO,phenotype,PHENOTYPE_18113
18114,18114,18114,18114,18114,18114,18114,18114,410301,Partial absence of specific antibody response to unconjugated pneumococcus vaccine,HPO,phenotype,PHENOTYPE_18114
18115,18115,18115,18115,18115,18115,18115,18115,3337,Reduced prothrombin consumption,HPO,phenotype,PHENOTYPE_18115
18116,18116,18116,18116,18116,18116,18116,18116,33043,Edematous chorionic villi,HPO,phenotype,PHENOTYPE_18116
18117,18117,18117,18117,18117,18117,18117,18117,4635,Cervical C5/C6 vertebrae fusion,HPO,phenotype,PHENOTYPE_18117
18118,18118,18118,18118,18118,18118,18118,18118,12319,Absent pigmentation of the abdomen,HPO,phenotype,PHENOTYPE_18118
18119,18119,18119,18119,18119,18119,18119,18119,31606,Retinal cotton wool spot,HPO,phenotype,PHENOTYPE_18119
18120,18120,18120,18120,18120,18120,18120,18120,768,Pectus carinatum,HPO,phenotype,PHENOTYPE_18120
18121,18121,18121,18121,18121,18121,18121,18121,33722,Autonomic epileptic aura,HPO,phenotype,PHENOTYPE_18121
18122,18122,18122,18122,18122,18122,18122,18122,30445,Pulmonary carcinoid tumor,HPO,phenotype,PHENOTYPE_18122
18123,18123,18123,18123,18123,18123,18123,18123,33769,Fundic gland polyposis,HPO,phenotype,PHENOTYPE_18123
18124,18124,18124,18124,18124,18124,18124,18124,1252,Hypotonia,HPO,phenotype,PHENOTYPE_18124
18125,18125,18125,18125,18125,18125,18125,18125,12762,Cerebral white matter atrophy,HPO,phenotype,PHENOTYPE_18125
18126,18126,18126,18126,18126,18126,18126,18126,1912,Abnormal basophil morphology,HPO,phenotype,PHENOTYPE_18126
18127,18127,18127,18127,18127,18127,18127,18127,33121,Barking cough,HPO,phenotype,PHENOTYPE_18127
18128,18128,18128,18128,18128,18128,18128,18128,8049,Abnormality of the extraocular muscles,HPO,phenotype,PHENOTYPE_18128
18129,18129,18129,18129,18129,18129,18129,18129,6000822,Elevated CSF tetrahydrobiopterin level,HPO,phenotype,PHENOTYPE_18129
18130,18130,18130,18130,18130,18130,18130,18130,40209,Decreased CSF biopterin level,HPO,phenotype,PHENOTYPE_18130
18131,18131,18131,18131,18131,18131,18131,18131,33748,Hypoesthesia,HPO,phenotype,PHENOTYPE_18131
18132,18132,18132,18132,18132,18132,18132,18132,32729,Focal emotional seizure with pleasure,HPO,phenotype,PHENOTYPE_18132
18133,18133,18133,18133,18133,18133,18133,18133,6000745,Flexural reticulate hyperpigmentation,HPO,phenotype,PHENOTYPE_18133
18134,18134,18134,18134,18134,18134,18134,18134,9260,Triangular epiphysis of the distal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_18134
18135,18135,18135,18135,18135,18135,18135,18135,4919,Galactose intolerance,HPO,phenotype,PHENOTYPE_18135
18136,18136,18136,18136,18136,18136,18136,18136,31693,Severe Epstein Barr virus infection,HPO,phenotype,PHENOTYPE_18136
18137,18137,18137,18137,18137,18137,18137,18137,12594,Moderate albuminuria,HPO,phenotype,PHENOTYPE_18137
18138,18138,18138,18138,18138,18138,18138,18138,11551,Right sided atrium to left ventricle and absent left sided atrioventricular connection,HPO,phenotype,PHENOTYPE_18138
18139,18139,18139,18139,18139,18139,18139,18139,2943,Thoracic scoliosis,HPO,phenotype,PHENOTYPE_18139
18140,18140,18140,18140,18140,18140,18140,18140,40087,Abnormal blood folate concentration,HPO,phenotype,PHENOTYPE_18140
18141,18141,18141,18141,18141,18141,18141,18141,12550,Colonic varices,HPO,phenotype,PHENOTYPE_18141
18142,18142,18142,18142,18142,18142,18142,18142,6000640,Lipid-laden bone-marrow macrophages,HPO,phenotype,PHENOTYPE_18142
18143,18143,18143,18143,18143,18143,18143,18143,31302,Lower extremity peripheral arterial calcification,HPO,phenotype,PHENOTYPE_18143
18144,18144,18144,18144,18144,18144,18144,18144,34418,Erythematous oral mucosa,HPO,phenotype,PHENOTYPE_18144
18145,18145,18145,18145,18145,18145,18145,18145,4022,Sclerotic radial metaphysis with longitudinal striations,HPO,phenotype,PHENOTYPE_18145
18146,18146,18146,18146,18146,18146,18146,18146,3357,Thymic hormone decreased,HPO,phenotype,PHENOTYPE_18146
18147,18147,18147,18147,18147,18147,18147,18147,4313,Decreased circulating antibody concentration,HPO,phenotype,PHENOTYPE_18147
18148,18148,18148,18148,18148,18148,18148,18148,1946,Ketosis,HPO,phenotype,PHENOTYPE_18148
18149,18149,18149,18149,18149,18149,18149,18149,25379,Anti-thyroid peroxidase antibody positivity,HPO,phenotype,PHENOTYPE_18149
18150,18150,18150,18150,18150,18150,18150,18150,7657,Diffuse nuclear cataract,HPO,phenotype,PHENOTYPE_18150
18151,18151,18151,18151,18151,18151,18151,18151,6560,Biliary hyperplasia,HPO,phenotype,PHENOTYPE_18151
18152,18152,18152,18152,18152,18152,18152,18152,45040,Abnormal circulating lactate dehydrogenase concentration,HPO,phenotype,PHENOTYPE_18152
18153,18153,18153,18153,18153,18153,18153,18153,33162,Abnormal urinary pyrimidine level,HPO,phenotype,PHENOTYPE_18153
18154,18154,18154,18154,18154,18154,18154,18154,739,Anxiety,HPO,phenotype,PHENOTYPE_18154
18155,18155,18155,18155,18155,18155,18155,18155,100076,Triangular epiphyses of the 4th toe,HPO,phenotype,PHENOTYPE_18155
18156,18156,18156,18156,18156,18156,18156,18156,4897,Stress/infection-induced lactic acidosis,HPO,phenotype,PHENOTYPE_18156
18157,18157,18157,18157,18157,18157,18157,18157,33460,Increased circulating apolipoprotein circulation,HPO,phenotype,PHENOTYPE_18157
18158,18158,18158,18158,18158,18158,18158,18158,9972,Duplication of phalanx of 4th finger,HPO,phenotype,PHENOTYPE_18158
18159,18159,18159,18159,18159,18159,18159,18159,6000439,Increased circulating interleukin 15 concentration,HPO,phenotype,PHENOTYPE_18159
18160,18160,18160,18160,18160,18160,18160,18160,34760,Reduced epidermal extracellular matrix protein 1 protein expression,HPO,phenotype,PHENOTYPE_18160
18161,18161,18161,18161,18161,18161,18161,18161,6000545,Positive treponema pallidum PCR test in the blood circulation,HPO,phenotype,PHENOTYPE_18161
18162,18162,18162,18162,18162,18162,18162,18162,100660,Dyskinesia,HPO,phenotype,PHENOTYPE_18162
18163,18163,18163,18163,18163,18163,18163,18163,100880,Nephrogenic rest,HPO,phenotype,PHENOTYPE_18163
18164,18164,18164,18164,18164,18164,18164,18164,4000110,Exposure history,HPO,phenotype,PHENOTYPE_18164
18165,18165,18165,18165,18165,18165,18165,18165,20141,Blood pressure substantially higher in legs than arms,HPO,phenotype,PHENOTYPE_18165
18166,18166,18166,18166,18166,18166,18166,18166,161,Median cleft upper lip,HPO,phenotype,PHENOTYPE_18166
18167,18167,18167,18167,18167,18167,18167,18167,5306,Capillary hemangioma,HPO,phenotype,PHENOTYPE_18167
18168,18168,18168,18168,18168,18168,18168,18168,32155,Abdominal cramps,HPO,phenotype,PHENOTYPE_18168
18169,18169,18169,18169,18169,18169,18169,18169,381,Stapes ankylosis,HPO,phenotype,PHENOTYPE_18169
18170,18170,18170,18170,18170,18170,18170,18170,410333,Seafood allergy,HPO,phenotype,PHENOTYPE_18170
18171,18171,18171,18171,18171,18171,18171,18171,32371,Isoleucinuria,HPO,phenotype,PHENOTYPE_18171
18172,18172,18172,18172,18172,18172,18172,18172,2381,Aphasia,HPO,phenotype,PHENOTYPE_18172
18173,18173,18173,18173,18173,18173,18173,18173,5595,Generalized hyperkeratosis,HPO,phenotype,PHENOTYPE_18173
18174,18174,18174,18174,18174,18174,18174,18174,100015,Stahl ear,HPO,phenotype,PHENOTYPE_18174
18175,18175,18175,18175,18175,18175,18175,18175,3927,Cortical irregularity of humeral diaphysis,HPO,phenotype,PHENOTYPE_18175
18176,18176,18176,18176,18176,18176,18176,18176,4523,Long eyebrows,HPO,phenotype,PHENOTYPE_18176
18177,18177,18177,18177,18177,18177,18177,18177,8515,Aplasia/Hypoplasia of the vertebrae,HPO,phenotype,PHENOTYPE_18177
18178,18178,18178,18178,18178,18178,18178,18178,11076,Abnormality of premolar,HPO,phenotype,PHENOTYPE_18178
18179,18179,18179,18179,18179,18179,18179,18179,3621,Juvenile onset,HPO,phenotype,PHENOTYPE_18179
18180,18180,18180,18180,18180,18180,18180,18180,40113,Old-aged sensorineural hearing impairment,HPO,phenotype,PHENOTYPE_18180
18181,18181,18181,18181,18181,18181,18181,18181,4057,Mitten deformity,HPO,phenotype,PHENOTYPE_18181
18182,18182,18182,18182,18182,18182,18182,18182,20125,Spontaneous conjunctival filtering bleb,HPO,phenotype,PHENOTYPE_18182
18183,18183,18183,18183,18183,18183,18183,18183,1944,Dehydration,HPO,phenotype,PHENOTYPE_18183
18184,18184,18184,18184,18184,18184,18184,18184,30906,Suck reflex,HPO,phenotype,PHENOTYPE_18184
18185,18185,18185,18185,18185,18185,18185,18185,32102,Wilson sign,HPO,phenotype,PHENOTYPE_18185
18186,18186,18186,18186,18186,18186,18186,18186,32455,Reduced granulocyte CD18 level,HPO,phenotype,PHENOTYPE_18186
18187,18187,18187,18187,18187,18187,18187,18187,31051,Tarsal sclerosis,HPO,phenotype,PHENOTYPE_18187
18188,18188,18188,18188,18188,18188,18188,18188,41056,Hot cross bun sign,HPO,phenotype,PHENOTYPE_18188
18189,18189,18189,18189,18189,18189,18189,18189,410224,Increased anti-bacteria IgE antibody level,HPO,phenotype,PHENOTYPE_18189
18190,18190,18190,18190,18190,18190,18190,18190,1464,Aplasia/Hypoplasia involving the shoulder musculature,HPO,phenotype,PHENOTYPE_18190
18191,18191,18191,18191,18191,18191,18191,18191,12222,Arachnoid hemangiomatosis,HPO,phenotype,PHENOTYPE_18191
18192,18192,18192,18192,18192,18192,18192,18192,100860,Dilatation of Inferior mesenteric artery,HPO,phenotype,PHENOTYPE_18192
18193,18193,18193,18193,18193,18193,18193,18193,34220,Temporal lobe megalencephaly,HPO,phenotype,PHENOTYPE_18193
18194,18194,18194,18194,18194,18194,18194,18194,10391,Duplication of the phalanges of the 5th toe,HPO,phenotype,PHENOTYPE_18194
18195,18195,18195,18195,18195,18195,18195,18195,2850,Decreased circulating total IgM,HPO,phenotype,PHENOTYPE_18195
18196,18196,18196,18196,18196,18196,18196,18196,34568,Ameliorated by naloxone,HPO,phenotype,PHENOTYPE_18196
18197,18197,18197,18197,18197,18197,18197,18197,32452,Oral melanoacanthoma,HPO,phenotype,PHENOTYPE_18197
18198,18198,18198,18198,18198,18198,18198,18198,4632,Cervical segmentation defect,HPO,phenotype,PHENOTYPE_18198
18199,18199,18199,18199,18199,18199,18199,18199,100360,Upper-limb joint contracture,HPO,phenotype,PHENOTYPE_18199
18200,18200,18200,18200,18200,18200,18200,18200,410042,Abnormal liver morphology,HPO,phenotype,PHENOTYPE_18200
18201,18201,18201,18201,18201,18201,18201,18201,31329,Interstitial cardiac fibrosis,HPO,phenotype,PHENOTYPE_18201
18202,18202,18202,18202,18202,18202,18202,18202,34356,Impaired renal tubular reabsorption of low molecular weight protein,HPO,phenotype,PHENOTYPE_18202
18203,18203,18203,18203,18203,18203,18203,18203,2684,Thickened calvaria,HPO,phenotype,PHENOTYPE_18203
18204,18204,18204,18204,18204,18204,18204,18204,9312,Osteolytic defects of the proximal phalanx of the 4th finger,HPO,phenotype,PHENOTYPE_18204
18205,18205,18205,18205,18205,18205,18205,18205,33524,Abnormal sperm axoneme morphology,HPO,phenotype,PHENOTYPE_18205
18206,18206,18206,18206,18206,18206,18206,18206,643,Blepharospasm,HPO,phenotype,PHENOTYPE_18206
18207,18207,18207,18207,18207,18207,18207,18207,32210,Decreased circulating free T3,HPO,phenotype,PHENOTYPE_18207
18208,18208,18208,18208,18208,18208,18208,18208,32836,Neonatal bilateral symmetric myoclonic seizure,HPO,phenotype,PHENOTYPE_18208
18209,18209,18209,18209,18209,18209,18209,18209,25739,Optic nerve mass,HPO,phenotype,PHENOTYPE_18209
18210,18210,18210,18210,18210,18210,18210,18210,25167,Fragmented elastic fibers in the dermis,HPO,phenotype,PHENOTYPE_18210
18211,18211,18211,18211,18211,18211,18211,18211,30976,Abnormal factor VIII activity,HPO,phenotype,PHENOTYPE_18211
18212,18212,18212,18212,18212,18212,18212,18212,32981,Absent bronchoalveolar dimeric surfactant-protein B,HPO,phenotype,PHENOTYPE_18212
18213,18213,18213,18213,18213,18213,18213,18213,33958,Cortical radial artery foam cell hypercellularity,HPO,phenotype,PHENOTYPE_18213
18214,18214,18214,18214,18214,18214,18214,18214,5200055,Reduced co-speech gestures,HPO,phenotype,PHENOTYPE_18214
18215,18215,18215,18215,18215,18215,18215,18215,12747,Abnormal brainstem MRI signal intensity,HPO,phenotype,PHENOTYPE_18215
18216,18216,18216,18216,18216,18216,18216,18216,5339,Abnormality of complement system,HPO,phenotype,PHENOTYPE_18216
18217,18217,18217,18217,18217,18217,18217,18217,4238,Lytic defects of carpal bones,HPO,phenotype,PHENOTYPE_18217
18218,18218,18218,18218,18218,18218,18218,18218,34199,Late first trimester onset,HPO,phenotype,PHENOTYPE_18218
18219,18219,18219,18219,18219,18219,18219,18219,32019,Muscle eosinophilia,HPO,phenotype,PHENOTYPE_18219
18220,18220,18220,18220,18220,18220,18220,18220,6000431,Elevated urinary glycolic acid level,HPO,phenotype,PHENOTYPE_18220
18221,18221,18221,18221,18221,18221,18221,18221,31107,Decreased fibular diameter,HPO,phenotype,PHENOTYPE_18221
18222,18222,18222,18222,18222,18222,18222,18222,25478,Atrial standstill,HPO,phenotype,PHENOTYPE_18222
18223,18223,18223,18223,18223,18223,18223,18223,944,Abnormal metaphysis morphology,HPO,phenotype,PHENOTYPE_18223
18224,18224,18224,18224,18224,18224,18224,18224,34891,Positive Neisseria gonorrhoeae urine nucleic acid test,HPO,phenotype,PHENOTYPE_18224
18225,18225,18225,18225,18225,18225,18225,18225,11068,Odontoma,HPO,phenotype,PHENOTYPE_18225
18226,18226,18226,18226,18226,18226,18226,18226,34186,Patella alta,HPO,phenotype,PHENOTYPE_18226
18227,18227,18227,18227,18227,18227,18227,18227,100947,Sclerosis of middle toe phalanx,HPO,phenotype,PHENOTYPE_18227
18228,18228,18228,18228,18228,18228,18228,18228,100251,Multiple central nervous system lipomas,HPO,phenotype,PHENOTYPE_18228
18229,18229,18229,18229,18229,18229,18229,18229,1927,Acanthocytosis,HPO,phenotype,PHENOTYPE_18229
18230,18230,18230,18230,18230,18230,18230,18230,5602,Progressive vitiligo,HPO,phenotype,PHENOTYPE_18230
18231,18231,18231,18231,18231,18231,18231,18231,410196,Abnormal erythrocyte UDP glucose-4-epimerase concentration,HPO,phenotype,PHENOTYPE_18231
18232,18232,18232,18232,18232,18232,18232,18232,200134,Epileptic encephalopathy,HPO,phenotype,PHENOTYPE_18232
18233,18233,18233,18233,18233,18233,18233,18233,3526,Orotic acid crystalluria,HPO,phenotype,PHENOTYPE_18233
18234,18234,18234,18234,18234,18234,18234,18234,34465,2-hydroxyadipic aciduria,HPO,phenotype,PHENOTYPE_18234
18235,18235,18235,18235,18235,18235,18235,18235,33591,Staghorn calculus,HPO,phenotype,PHENOTYPE_18235
18236,18236,18236,18236,18236,18236,18236,18236,3623,Neonatal onset,HPO,phenotype,PHENOTYPE_18236
18237,18237,18237,18237,18237,18237,18237,18237,11594,Right aortic arch with retroesophageal diverticulum of Kommerell,HPO,phenotype,PHENOTYPE_18237
18238,18238,18238,18238,18238,18238,18238,18238,2267,Exaggerated startle response,HPO,phenotype,PHENOTYPE_18238
18239,18239,18239,18239,18239,18239,18239,18239,20197,Increased circulating arachidonic acid concentration,HPO,phenotype,PHENOTYPE_18239
18240,18240,18240,18240,18240,18240,18240,18240,11416,Placental infarction,HPO,phenotype,PHENOTYPE_18240
18241,18241,18241,18241,18241,18241,18241,18241,9715,Papillary cystadenoma of the epididymis,HPO,phenotype,PHENOTYPE_18241
18242,18242,18242,18242,18242,18242,18242,18242,34223,Elevated umbilical artery pulsatility,HPO,phenotype,PHENOTYPE_18242
18243,18243,18243,18243,18243,18243,18243,18243,10643,Midnasal atresia,HPO,phenotype,PHENOTYPE_18243
18244,18244,18244,18244,18244,18244,18244,18244,100826,Neoplasm of the nail,HPO,phenotype,PHENOTYPE_18244
18245,18245,18245,18245,18245,18245,18245,18245,33860,Abnormal cortical peritubular capillary morphology,HPO,phenotype,PHENOTYPE_18245
18246,18246,18246,18246,18246,18246,18246,18246,32913,Focal aware pedal automatism seizure,HPO,phenotype,PHENOTYPE_18246
18247,18247,18247,18247,18247,18247,18247,18247,12039,Descemet Membrane Folds,HPO,phenotype,PHENOTYPE_18247
18248,18248,18248,18248,18248,18248,18248,18248,246,Sinusitis,HPO,phenotype,PHENOTYPE_18248
18249,18249,18249,18249,18249,18249,18249,18249,30235,Extremely elevated creatine kinase,HPO,phenotype,PHENOTYPE_18249
18250,18250,18250,18250,18250,18250,18250,18250,9583,Curved proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_18250
18251,18251,18251,18251,18251,18251,18251,18251,10011,Abnormal 3rd metacarpal morphology,HPO,phenotype,PHENOTYPE_18251
18252,18252,18252,18252,18252,18252,18252,18252,33175,Elevated circulating 5-oxoproline concentration,HPO,phenotype,PHENOTYPE_18252
18253,18253,18253,18253,18253,18253,18253,18253,6001018,Mediastinal lymph node calcification,HPO,phenotype,PHENOTYPE_18253
18254,18254,18254,18254,18254,18254,18254,18254,30755,Craniofacial teratoma,HPO,phenotype,PHENOTYPE_18254
18255,18255,18255,18255,18255,18255,18255,18255,32031,Medial canthal tendon laxity,HPO,phenotype,PHENOTYPE_18255
18256,18256,18256,18256,18256,18256,18256,18256,32592,Aplasia of the right hemidiaphragm,HPO,phenotype,PHENOTYPE_18256
18257,18257,18257,18257,18257,18257,18257,18257,410374,Abnormal proportion of naive CD8 T cells,HPO,phenotype,PHENOTYPE_18257
18258,18258,18258,18258,18258,18258,18258,18258,6129,Drumstick terminal phalanges,HPO,phenotype,PHENOTYPE_18258
18259,18259,18259,18259,18259,18259,18259,18259,410320,Animal protein allergy,HPO,phenotype,PHENOTYPE_18259
18260,18260,18260,18260,18260,18260,18260,18260,40049,Macular edema,HPO,phenotype,PHENOTYPE_18260
18261,18261,18261,18261,18261,18261,18261,18261,1193,Ulnar deviation of the hand or of fingers of the hand,HPO,phenotype,PHENOTYPE_18261
18262,18262,18262,18262,18262,18262,18262,18262,33954,Cortical radial artery hypercellularity,HPO,phenotype,PHENOTYPE_18262
18263,18263,18263,18263,18263,18263,18263,18263,34361,Redundant umbilical skin,HPO,phenotype,PHENOTYPE_18263
18264,18264,18264,18264,18264,18264,18264,18264,10871,Sensory ataxia,HPO,phenotype,PHENOTYPE_18264
18265,18265,18265,18265,18265,18265,18265,18265,6000332,Elevated urinary indoleacetic acid level,HPO,phenotype,PHENOTYPE_18265
18266,18266,18266,18266,18266,18266,18266,18266,2842,Recurrent Burkholderia cepacia infections,HPO,phenotype,PHENOTYPE_18266
18267,18267,18267,18267,18267,18267,18267,18267,8822,Hypoplastic ischiopubic ramus,HPO,phenotype,PHENOTYPE_18267
18268,18268,18268,18268,18268,18268,18268,18268,40233,Factor XIII subunit A deficiency,HPO,phenotype,PHENOTYPE_18268
18269,18269,18269,18269,18269,18269,18269,18269,10140,Cone-shaped epiphysis of the distal phalanx of the hallux,HPO,phenotype,PHENOTYPE_18269
18270,18270,18270,18270,18270,18270,18270,18270,5000038,Anti-titin antibody positivity,HPO,phenotype,PHENOTYPE_18270
18271,18271,18271,18271,18271,18271,18271,18271,2528,Granulovacuolar degeneration,HPO,phenotype,PHENOTYPE_18271
18272,18272,18272,18272,18272,18272,18272,18272,31579,Tessier number 7 facial cleft,HPO,phenotype,PHENOTYPE_18272
18273,18273,18273,18273,18273,18273,18273,18273,31394,Abnormal CD4:CD8 ratio,HPO,phenotype,PHENOTYPE_18273
18274,18274,18274,18274,18274,18274,18274,18274,8439,Lumbar hemivertebrae,HPO,phenotype,PHENOTYPE_18274
18275,18275,18275,18275,18275,18275,18275,18275,20113,Decreased proportion of CD4+CD25+ regulatory T cells,HPO,phenotype,PHENOTYPE_18275
18276,18276,18276,18276,18276,18276,18276,18276,31711,Asymmetric abdominal aortic aneurysm,HPO,phenotype,PHENOTYPE_18276
18277,18277,18277,18277,18277,18277,18277,18277,5765,Sacral meningocele,HPO,phenotype,PHENOTYPE_18277
18278,18278,18278,18278,18278,18278,18278,18278,3021,Metaphyseal cupping,HPO,phenotype,PHENOTYPE_18278
18279,18279,18279,18279,18279,18279,18279,18279,4000055,Intestinal inflammation,HPO,phenotype,PHENOTYPE_18279
18280,18280,18280,18280,18280,18280,18280,18280,4799,Jejunoileal diverticula,HPO,phenotype,PHENOTYPE_18280
18281,18281,18281,18281,18281,18281,18281,18281,30476,Abnormal amplitude of dark-adapted dim flash electroretinogram,HPO,phenotype,PHENOTYPE_18281
18282,18282,18282,18282,18282,18282,18282,18282,34778,Maternal hyperthyroidism,HPO,phenotype,PHENOTYPE_18282
18283,18283,18283,18283,18283,18283,18283,18283,1040,Multiple pterygia,HPO,phenotype,PHENOTYPE_18283
18284,18284,18284,18284,18284,18284,18284,18284,8233,Decreased circulating progesterone,HPO,phenotype,PHENOTYPE_18284
18285,18285,18285,18285,18285,18285,18285,18285,40418,Abnormal urine guanidinoacetic acid level,HPO,phenotype,PHENOTYPE_18285
18286,18286,18286,18286,18286,18286,18286,18286,32043,Odynophagia,HPO,phenotype,PHENOTYPE_18286
18287,18287,18287,18287,18287,18287,18287,18287,100927,Sclerosis of 3rd toe phalanx,HPO,phenotype,PHENOTYPE_18287
18288,18288,18288,18288,18288,18288,18288,18288,34595,Elevated circulating N-carbamoyl-beta-alanine concentration,HPO,phenotype,PHENOTYPE_18288
18289,18289,18289,18289,18289,18289,18289,18289,20044,Horizontal incomitant strabismus,HPO,phenotype,PHENOTYPE_18289
18290,18290,18290,18290,18290,18290,18290,18290,5268,Miscarriage,HPO,phenotype,PHENOTYPE_18290
18291,18291,18291,18291,18291,18291,18291,18291,9574,Symphalangism of middle phalanx of 2nd finger,HPO,phenotype,PHENOTYPE_18291
18292,18292,18292,18292,18292,18292,18292,18292,34168,Reduced circulating interleukin 22 concentration,HPO,phenotype,PHENOTYPE_18292
18293,18293,18293,18293,18293,18293,18293,18293,1806,Onycholysis,HPO,phenotype,PHENOTYPE_18293
18294,18294,18294,18294,18294,18294,18294,18294,32213,Increased urinary renal tubular epithelial cell count,HPO,phenotype,PHENOTYPE_18294
18295,18295,18295,18295,18295,18295,18295,18295,31454,Apocrine hidrocystoma,HPO,phenotype,PHENOTYPE_18295
18296,18296,18296,18296,18296,18296,18296,18296,9542,Abnormality of the distal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_18296
18297,18297,18297,18297,18297,18297,18297,18297,12761,Absent mastoid,HPO,phenotype,PHENOTYPE_18297
18298,18298,18298,18298,18298,18298,18298,18298,31332,Cardiomyocyte degeneration,HPO,phenotype,PHENOTYPE_18298
18299,18299,18299,18299,18299,18299,18299,18299,30329,Retinal thinning,HPO,phenotype,PHENOTYPE_18299
18300,18300,18300,18300,18300,18300,18300,18300,4409,Hyposmia,HPO,phenotype,PHENOTYPE_18300
18301,18301,18301,18301,18301,18301,18301,18301,33094,Increased urine glutamate level,HPO,phenotype,PHENOTYPE_18301
18302,18302,18302,18302,18302,18302,18302,18302,12522,Spider hemangioma,HPO,phenotype,PHENOTYPE_18302
18303,18303,18303,18303,18303,18303,18303,18303,6253,Swelling of proximal interphalangeal joints,HPO,phenotype,PHENOTYPE_18303
18304,18304,18304,18304,18304,18304,18304,18304,25314,Choroidal nevus,HPO,phenotype,PHENOTYPE_18304
18305,18305,18305,18305,18305,18305,18305,18305,11617,Pulmonary situs ambiguus,HPO,phenotype,PHENOTYPE_18305
18306,18306,18306,18306,18306,18306,18306,18306,4768,Sparse anterior scalp hair,HPO,phenotype,PHENOTYPE_18306
18307,18307,18307,18307,18307,18307,18307,18307,6000441,Abnormal circulating interleukin 6 concentration,HPO,phenotype,PHENOTYPE_18307
18308,18308,18308,18308,18308,18308,18308,18308,8732,Renal hypophosphatemia,HPO,phenotype,PHENOTYPE_18308
18309,18309,18309,18309,18309,18309,18309,18309,1942,Metabolic acidosis,HPO,phenotype,PHENOTYPE_18309
18310,18310,18310,18310,18310,18310,18310,18310,100951,Enlarged fossa interpeduncularis,HPO,phenotype,PHENOTYPE_18310
18311,18311,18311,18311,18311,18311,18311,18311,100510,Decreased circulating vitamin C concentration,HPO,phenotype,PHENOTYPE_18311
18312,18312,18312,18312,18312,18312,18312,18312,9592,Astrocytoma,HPO,phenotype,PHENOTYPE_18312
18313,18313,18313,18313,18313,18313,18313,18313,11167,Focal tonic seizure,HPO,phenotype,PHENOTYPE_18313
18314,18314,18314,18314,18314,18314,18314,18314,20208,Eating-induced seizure,HPO,phenotype,PHENOTYPE_18314
18315,18315,18315,18315,18315,18315,18315,18315,5472,Orbital craniosynostosis,HPO,phenotype,PHENOTYPE_18315
18316,18316,18316,18316,18316,18316,18316,18316,33402,Digital ischemia,HPO,phenotype,PHENOTYPE_18316
18317,18317,18317,18317,18317,18317,18317,18317,11610,Type IV truncus arteriosus,HPO,phenotype,PHENOTYPE_18317
18318,18318,18318,18318,18318,18318,18318,18318,34490,Increased circulating interleukin 4 concentration,HPO,phenotype,PHENOTYPE_18318
18319,18319,18319,18319,18319,18319,18319,18319,6441,Lateral humeral condyle aplasia,HPO,phenotype,PHENOTYPE_18319
18320,18320,18320,18320,18320,18320,18320,18320,4236,Irregular carpal bones,HPO,phenotype,PHENOTYPE_18320
18321,18321,18321,18321,18321,18321,18321,18321,30952,Birdshot retinochoroidopathy,HPO,phenotype,PHENOTYPE_18321
18322,18322,18322,18322,18322,18322,18322,18322,34603,Elevated circulating CA19-9 concentration,HPO,phenotype,PHENOTYPE_18322
18323,18323,18323,18323,18323,18323,18323,18323,6000894,Breast adenoma,HPO,phenotype,PHENOTYPE_18323
18324,18324,18324,18324,18324,18324,18324,18324,31327,Transthyretin cardiac amyloidosis,HPO,phenotype,PHENOTYPE_18324
18325,18325,18325,18325,18325,18325,18325,18325,6000088,"Reduced muscle alpha-1,4-glucosidase activity",HPO,phenotype,PHENOTYPE_18325
18326,18326,18326,18326,18326,18326,18326,18326,3,Multicystic kidney dysplasia,HPO,phenotype,PHENOTYPE_18326
18327,18327,18327,18327,18327,18327,18327,18327,31226,Perinephric fluid collection,HPO,phenotype,PHENOTYPE_18327
18328,18328,18328,18328,18328,18328,18328,18328,6001034,Desmoid tumor,HPO,phenotype,PHENOTYPE_18328
18329,18329,18329,18329,18329,18329,18329,18329,7097,Cranial nerve motor loss,HPO,phenotype,PHENOTYPE_18329
18330,18330,18330,18330,18330,18330,18330,18330,8672,Calcium oxalate nephrolithiasis,HPO,phenotype,PHENOTYPE_18330
18331,18331,18331,18331,18331,18331,18331,18331,5449,Bridged sella turcica,HPO,phenotype,PHENOTYPE_18331
18332,18332,18332,18332,18332,18332,18332,18332,430114,Aplasia/hypoplasia of the uterine cervix,HPO,phenotype,PHENOTYPE_18332
18333,18333,18333,18333,18333,18333,18333,18333,33912,Cortical radial artery medial atrophy,HPO,phenotype,PHENOTYPE_18333
18334,18334,18334,18334,18334,18334,18334,18334,1748,Polysplenia,HPO,phenotype,PHENOTYPE_18334
18335,18335,18335,18335,18335,18335,18335,18335,30744,Hyaloid vascular remnant and retrolental mass,HPO,phenotype,PHENOTYPE_18335
18336,18336,18336,18336,18336,18336,18336,18336,34355,White cerebellum sign,HPO,phenotype,PHENOTYPE_18336
18337,18337,18337,18337,18337,18337,18337,18337,12800,Accessory cranial suture,HPO,phenotype,PHENOTYPE_18337
18338,18338,18338,18338,18338,18338,18338,18338,9179,Deviation of the 5th finger,HPO,phenotype,PHENOTYPE_18338
18339,18339,18339,18339,18339,18339,18339,18339,1671,Abnormal cardiac septum morphology,HPO,phenotype,PHENOTYPE_18339
18340,18340,18340,18340,18340,18340,18340,18340,33469,10-minute APGAR score of 1,HPO,phenotype,PHENOTYPE_18340
18341,18341,18341,18341,18341,18341,18341,18341,12682,Pineal gland calcification,HPO,phenotype,PHENOTYPE_18341
18342,18342,18342,18342,18342,18342,18342,18342,1151,Impaired horizontal smooth pursuit,HPO,phenotype,PHENOTYPE_18342
18343,18343,18343,18343,18343,18343,18343,18343,31055,Abnormal branching pattern of left aortic arch,HPO,phenotype,PHENOTYPE_18343
18344,18344,18344,18344,18344,18344,18344,18344,31412,Abnormal telomere morphology,HPO,phenotype,PHENOTYPE_18344
18345,18345,18345,18345,18345,18345,18345,18345,31885,Hyperglycorrhachia,HPO,phenotype,PHENOTYPE_18345
18346,18346,18346,18346,18346,18346,18346,18346,31965,Increased RBC distribution width,HPO,phenotype,PHENOTYPE_18346
18347,18347,18347,18347,18347,18347,18347,18347,8363,Aplasia/Hypoplasia of the tarsal bones,HPO,phenotype,PHENOTYPE_18347
18348,18348,18348,18348,18348,18348,18348,18348,5200413,Autotopagnosia,HPO,phenotype,PHENOTYPE_18348
18349,18349,18349,18349,18349,18349,18349,18349,410132,Increased level of L-pyroglutamic acid in urine,HPO,phenotype,PHENOTYPE_18349
18350,18350,18350,18350,18350,18350,18350,18350,5200334,Addictive gambling behavior,HPO,phenotype,PHENOTYPE_18350
18351,18351,18351,18351,18351,18351,18351,18351,30302,Agenesis of the anterior commissure,HPO,phenotype,PHENOTYPE_18351
18352,18352,18352,18352,18352,18352,18352,18352,30437,Anal canal neoplasm,HPO,phenotype,PHENOTYPE_18352
18353,18353,18353,18353,18353,18353,18353,18353,33234,Mesangial hyaline deposition,HPO,phenotype,PHENOTYPE_18353
18354,18354,18354,18354,18354,18354,18354,18354,11572,Supramitral ring,HPO,phenotype,PHENOTYPE_18354
18355,18355,18355,18355,18355,18355,18355,18355,100031,Neoplasm of the thyroid gland,HPO,phenotype,PHENOTYPE_18355
18356,18356,18356,18356,18356,18356,18356,18356,31746,Superior rectus muscle restriction,HPO,phenotype,PHENOTYPE_18356
18357,18357,18357,18357,18357,18357,18357,18357,100369,Aplasia/Hypoplasia of the distal phalanx of the 3rd toe,HPO,phenotype,PHENOTYPE_18357
18358,18358,18358,18358,18358,18358,18358,18358,32450,Positive blood arsenic test,HPO,phenotype,PHENOTYPE_18358
18359,18359,18359,18359,18359,18359,18359,18359,445,Wide nose,HPO,phenotype,PHENOTYPE_18359
18360,18360,18360,18360,18360,18360,18360,18360,286,Epicanthus,HPO,phenotype,PHENOTYPE_18360
18361,18361,18361,18361,18361,18361,18361,18361,9323,Cone-shaped epiphysis of the middle phalanx of the 3rd finger,HPO,phenotype,PHENOTYPE_18361
18362,18362,18362,18362,18362,18362,18362,18362,32436,Abnormal circulating C-reactive protein concentration,HPO,phenotype,PHENOTYPE_18362
18363,18363,18363,18363,18363,18363,18363,18363,430103,Past surgical history,HPO,phenotype,PHENOTYPE_18363
18364,18364,18364,18364,18364,18364,18364,18364,6000688,Elevated circulating CCL4 concentration,HPO,phenotype,PHENOTYPE_18364
18365,18365,18365,18365,18365,18365,18365,18365,31795,Abnormal circulating glycerol level,HPO,phenotype,PHENOTYPE_18365
18366,18366,18366,18366,18366,18366,18366,18366,9896,Abnormal antitragus morphology,HPO,phenotype,PHENOTYPE_18366
18367,18367,18367,18367,18367,18367,18367,18367,33821,Pulmonary mass,HPO,phenotype,PHENOTYPE_18367
18368,18368,18368,18368,18368,18368,18368,18368,34691,Reduced 3-phosphoglycerate dehydrogenase activity,HPO,phenotype,PHENOTYPE_18368
18369,18369,18369,18369,18369,18369,18369,18369,3204,Intracellular accumulation of autofluorescent lipopigment storage material,HPO,phenotype,PHENOTYPE_18369
18370,18370,18370,18370,18370,18370,18370,18370,6000710,Dalen Fuchs nodules,HPO,phenotype,PHENOTYPE_18370
18371,18371,18371,18371,18371,18371,18371,18371,4936,Venous thrombosis,HPO,phenotype,PHENOTYPE_18371
18372,18372,18372,18372,18372,18372,18372,18372,6000573,Reduced tissue aspartylglucosaminidase activity,HPO,phenotype,PHENOTYPE_18372
18373,18373,18373,18373,18373,18373,18373,18373,3391,Gowers sign,HPO,phenotype,PHENOTYPE_18373
18374,18374,18374,18374,18374,18374,18374,18374,100752,Abnormal liver lobulation,HPO,phenotype,PHENOTYPE_18374
18375,18375,18375,18375,18375,18375,18375,18375,3217,Hyperglutaminemia,HPO,phenotype,PHENOTYPE_18375
18376,18376,18376,18376,18376,18376,18376,18376,6000857,Symmetric distribution,HPO,phenotype,PHENOTYPE_18376
18377,18377,18377,18377,18377,18377,18377,18377,25108,Angioma serpentinum,HPO,phenotype,PHENOTYPE_18377
18378,18378,18378,18378,18378,18378,18378,18378,25425,Laryngospasm,HPO,phenotype,PHENOTYPE_18378
18379,18379,18379,18379,18379,18379,18379,18379,4889,Intermittent episodes of respiratory insufficiency due to muscle weakness,HPO,phenotype,PHENOTYPE_18379
18380,18380,18380,18380,18380,18380,18380,18380,30886,Abnormal lymphocyte apoptosis,HPO,phenotype,PHENOTYPE_18380
18381,18381,18381,18381,18381,18381,18381,18381,25304,Periodic,HPO,phenotype,PHENOTYPE_18381
18382,18382,18382,18382,18382,18382,18382,18382,7651,Ectropion of lower eyelids,HPO,phenotype,PHENOTYPE_18382
18383,18383,18383,18383,18383,18383,18383,18383,32593,Myoglobin casts,HPO,phenotype,PHENOTYPE_18383
18384,18384,18384,18384,18384,18384,18384,18384,11090,Fused teeth,HPO,phenotype,PHENOTYPE_18384
18385,18385,18385,18385,18385,18385,18385,18385,33470,10-minute APGAR score of 2,HPO,phenotype,PHENOTYPE_18385
18386,18386,18386,18386,18386,18386,18386,18386,11124,Abnormal epidermal morphology,HPO,phenotype,PHENOTYPE_18386
18387,18387,18387,18387,18387,18387,18387,18387,410,Mixed hearing impairment,HPO,phenotype,PHENOTYPE_18387
18388,18388,18388,18388,18388,18388,18388,18388,9716,Subependymal nodules,HPO,phenotype,PHENOTYPE_18388
18389,18389,18389,18389,18389,18389,18389,18389,4298,Abnormality of the abdominal wall,HPO,phenotype,PHENOTYPE_18389
18390,18390,18390,18390,18390,18390,18390,18390,30566,Best corrected visual acuity 1.3 LogMAR,HPO,phenotype,PHENOTYPE_18390
18391,18391,18391,18391,18391,18391,18391,18391,1751,Abnormal vestibular function,HPO,phenotype,PHENOTYPE_18391
18392,18392,18392,18392,18392,18392,18392,18392,4000142,Fetal trigonocephaly,HPO,phenotype,PHENOTYPE_18392
18393,18393,18393,18393,18393,18393,18393,18393,33224,Glomerular parietal epithelial cell hyperplasia,HPO,phenotype,PHENOTYPE_18393
18394,18394,18394,18394,18394,18394,18394,18394,7658,Large hyperpigmented retinal spots,HPO,phenotype,PHENOTYPE_18394
18395,18395,18395,18395,18395,18395,18395,18395,12098,Edema of the dorsum of feet,HPO,phenotype,PHENOTYPE_18395
18396,18396,18396,18396,18396,18396,18396,18396,31198,Renal tubular epithelial cell casts,HPO,phenotype,PHENOTYPE_18396
18397,18397,18397,18397,18397,18397,18397,18397,25306,Acute emergence over minutes,HPO,phenotype,PHENOTYPE_18397
18398,18398,18398,18398,18398,18398,18398,18398,5200270,Grandiosity,HPO,phenotype,PHENOTYPE_18398
18399,18399,18399,18399,18399,18399,18399,18399,20,Urinary incontinence,HPO,phenotype,PHENOTYPE_18399
18400,18400,18400,18400,18400,18400,18400,18400,32750,Focal impaired awareness emotional seizure with laughing,HPO,phenotype,PHENOTYPE_18400
18401,18401,18401,18401,18401,18401,18401,18401,883,Thin ribs,HPO,phenotype,PHENOTYPE_18401
18402,18402,18402,18402,18402,18402,18402,18402,6850,Hypoplasia of the ventral pons,HPO,phenotype,PHENOTYPE_18402
18403,18403,18403,18403,18403,18403,18403,18403,200050,Bracket metacarpal epiphyses,HPO,phenotype,PHENOTYPE_18403
18404,18404,18404,18404,18404,18404,18404,18404,25611,Epicanthus superciliaris,HPO,phenotype,PHENOTYPE_18404
18405,18405,18405,18405,18405,18405,18405,18405,11659,Tetralogy of Fallot with absent pulmonary valve,HPO,phenotype,PHENOTYPE_18405
18406,18406,18406,18406,18406,18406,18406,18406,30421,Epididymal neoplasm,HPO,phenotype,PHENOTYPE_18406
18407,18407,18407,18407,18407,18407,18407,18407,33301,Elevated circulating 1-methylhistidine concentration,HPO,phenotype,PHENOTYPE_18407
18408,18408,18408,18408,18408,18408,18408,18408,41186,Fractured middle phalanx of pedal digit 3,HPO,phenotype,PHENOTYPE_18408
18409,18409,18409,18409,18409,18409,18409,18409,30682,Left ventricular noncompaction,HPO,phenotype,PHENOTYPE_18409
18410,18410,18410,18410,18410,18410,18410,18410,33654,Beaded septum sign,HPO,phenotype,PHENOTYPE_18410
18411,18411,18411,18411,18411,18411,18411,18411,6001080,Reduced urine retrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio,HPO,phenotype,PHENOTYPE_18411
18412,18412,18412,18412,18412,18412,18412,18412,1792,Small nail,HPO,phenotype,PHENOTYPE_18412
18413,18413,18413,18413,18413,18413,18413,18413,3301,Irregular vertebral endplates,HPO,phenotype,PHENOTYPE_18413
18414,18414,18414,18414,18414,18414,18414,18414,10234,Ivory epiphyses of the phalanges of the hand,HPO,phenotype,PHENOTYPE_18414
18415,18415,18415,18415,18415,18415,18415,18415,34615,Reduced circulating matrix metalloproteinase 2 concentration,HPO,phenotype,PHENOTYPE_18415
18416,18416,18416,18416,18416,18416,18416,18416,9556,Absent tibia,HPO,phenotype,PHENOTYPE_18416
18417,18417,18417,18417,18417,18417,18417,18417,7979,Gaze-evoked horizontal nystagmus,HPO,phenotype,PHENOTYPE_18417
18418,18418,18418,18418,18418,18418,18418,18418,11467,Absent gallbladder,HPO,phenotype,PHENOTYPE_18418
18419,18419,18419,18419,18419,18419,18419,18419,3265,Neonatal hyperbilirubinemia,HPO,phenotype,PHENOTYPE_18419
18420,18420,18420,18420,18420,18420,18420,18420,10972,Anemia of inadequate production,HPO,phenotype,PHENOTYPE_18420
18421,18421,18421,18421,18421,18421,18421,18421,4734,Renal cortical microcysts,HPO,phenotype,PHENOTYPE_18421
18422,18422,18422,18422,18422,18422,18422,18422,34045,Angulated muscle fibers,HPO,phenotype,PHENOTYPE_18422
18423,18423,18423,18423,18423,18423,18423,18423,11184,EEG with hyperventilation-induced generalized epileptiform discharges,HPO,phenotype,PHENOTYPE_18423
18424,18424,18424,18424,18424,18424,18424,18424,10330,Abnormality of the phalanges of the 3rd toe,HPO,phenotype,PHENOTYPE_18424
18425,18425,18425,18425,18425,18425,18425,18425,33239,Visceral epithelial cell capping,HPO,phenotype,PHENOTYPE_18425
18426,18426,18426,18426,18426,18426,18426,18426,32236,Increased circulating immature neutrophil count,HPO,phenotype,PHENOTYPE_18426
18427,18427,18427,18427,18427,18427,18427,18427,34664,Elevated urine 2-hydroxy-3-methylvaleric acid level,HPO,phenotype,PHENOTYPE_18427
18428,18428,18428,18428,18428,18428,18428,18428,40020,Radial deviation of the 5th finger,HPO,phenotype,PHENOTYPE_18428
18429,18429,18429,18429,18429,18429,18429,18429,30173,Peripheral hypermyelination,HPO,phenotype,PHENOTYPE_18429
18430,18430,18430,18430,18430,18430,18430,18430,2686,Pregnancy history,HPO,phenotype,PHENOTYPE_18430
18431,18431,18431,18431,18431,18431,18431,18431,158,Macroglossia,HPO,phenotype,PHENOTYPE_18431
18432,18432,18432,18432,18432,18432,18432,18432,500077,Alternating hyperphoria,HPO,phenotype,PHENOTYPE_18432
18433,18433,18433,18433,18433,18433,18433,18433,6000438,Reduced urinary iodine level,HPO,phenotype,PHENOTYPE_18433
18434,18434,18434,18434,18434,18434,18434,18434,8783,Wide proximal femoral metaphysis,HPO,phenotype,PHENOTYPE_18434
18435,18435,18435,18435,18435,18435,18435,18435,1500,Broad finger,HPO,phenotype,PHENOTYPE_18435
18436,18436,18436,18436,18436,18436,18436,18436,1691,Muscular subvalvular aortic stenosis,HPO,phenotype,PHENOTYPE_18436
18437,18437,18437,18437,18437,18437,18437,18437,4383,Hypoplastic left heart,HPO,phenotype,PHENOTYPE_18437
18438,18438,18438,18438,18438,18438,18438,18438,5609,Gallbladder dysfunction,HPO,phenotype,PHENOTYPE_18438
18439,18439,18439,18439,18439,18439,18439,18439,6707,Abnormality of the hepatic vasculature,HPO,phenotype,PHENOTYPE_18439
18440,18440,18440,18440,18440,18440,18440,18440,10568,Hamartoma of the eye,HPO,phenotype,PHENOTYPE_18440
18441,18441,18441,18441,18441,18441,18441,18441,3170,Abnormal acetabulum morphology,HPO,phenotype,PHENOTYPE_18441
18442,18442,18442,18442,18442,18442,18442,18442,8972,Decreased activity of mitochondrial respiratory chain,HPO,phenotype,PHENOTYPE_18442
18443,18443,18443,18443,18443,18443,18443,18443,6000733,Positive streptococcus A rapid antigen detection test,HPO,phenotype,PHENOTYPE_18443
18444,18444,18444,18444,18444,18444,18444,18444,30385,Increased proportion of marginal zone B cells,HPO,phenotype,PHENOTYPE_18444
18445,18445,18445,18445,18445,18445,18445,18445,25512,Skin-colored papule,HPO,phenotype,PHENOTYPE_18445
18446,18446,18446,18446,18446,18446,18446,18446,33169,Reduced total lung capacity,HPO,phenotype,PHENOTYPE_18446
18447,18447,18447,18447,18447,18447,18447,18447,430045,Radiation into right arm,HPO,phenotype,PHENOTYPE_18447
18448,18448,18448,18448,18448,18448,18448,18448,25413,Fossa navicularis urethral stricture,HPO,phenotype,PHENOTYPE_18448
18449,18449,18449,18449,18449,18449,18449,18449,3939,Humeroulnar synostosis,HPO,phenotype,PHENOTYPE_18449
18450,18450,18450,18450,18450,18450,18450,18450,33433,Ileocecal ulcer,HPO,phenotype,PHENOTYPE_18450
18451,18451,18451,18451,18451,18451,18451,18451,546,Retinal degeneration,HPO,phenotype,PHENOTYPE_18451
18452,18452,18452,18452,18452,18452,18452,18452,4255,Small trapezium,HPO,phenotype,PHENOTYPE_18452
18453,18453,18453,18453,18453,18453,18453,18453,30491,Choriocapillaris atrophy,HPO,phenotype,PHENOTYPE_18453
18454,18454,18454,18454,18454,18454,18454,18454,100933,Sclerosis of the proximal phalanx of the 4th toe,HPO,phenotype,PHENOTYPE_18454
18455,18455,18455,18455,18455,18455,18455,18455,30059,Mitochondrial depletion,HPO,phenotype,PHENOTYPE_18455
18456,18456,18456,18456,18456,18456,18456,18456,25112,Auditory sensitivity,HPO,phenotype,PHENOTYPE_18456
18457,18457,18457,18457,18457,18457,18457,18457,5200331,Addictive sedative use,HPO,phenotype,PHENOTYPE_18457
18458,18458,18458,18458,18458,18458,18458,18458,10965,Abnormal circulating phytanic acid concentration,HPO,phenotype,PHENOTYPE_18458
18459,18459,18459,18459,18459,18459,18459,18459,34511,Reduced muscle aconitase activity,HPO,phenotype,PHENOTYPE_18459
18460,18460,18460,18460,18460,18460,18460,18460,33600,Fibrillary glomerular subepithelial deposits,HPO,phenotype,PHENOTYPE_18460
18461,18461,18461,18461,18461,18461,18461,18461,8115,Clinodactyly of the 3rd toe,HPO,phenotype,PHENOTYPE_18461
18462,18462,18462,18462,18462,18462,18462,18462,3279,Coxa magna,HPO,phenotype,PHENOTYPE_18462
18463,18463,18463,18463,18463,18463,18463,18463,200118,Malabsorption of Vitamin B12,HPO,phenotype,PHENOTYPE_18463
18464,18464,18464,18464,18464,18464,18464,18464,11280,Abnormality of urine calcium concentration,HPO,phenotype,PHENOTYPE_18464
18465,18465,18465,18465,18465,18465,18465,18465,10290,Short hard palate,HPO,phenotype,PHENOTYPE_18465
18466,18466,18466,18466,18466,18466,18466,18466,7379,Neoplasm of the genitourinary tract,HPO,phenotype,PHENOTYPE_18466
18467,18467,18467,18467,18467,18467,18467,18467,12316,Fibrous tissue neoplasm,HPO,phenotype,PHENOTYPE_18467
18468,18468,18468,18468,18468,18468,18468,18468,11353,Arterial intimal fibrosis,HPO,phenotype,PHENOTYPE_18468
18469,18469,18469,18469,18469,18469,18469,18469,31301,Peripheral arterial calcification,HPO,phenotype,PHENOTYPE_18469
18470,18470,18470,18470,18470,18470,18470,18470,100486,Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal,HPO,phenotype,PHENOTYPE_18470
18471,18471,18471,18471,18471,18471,18471,18471,11044,Abnormal number of permanent teeth,HPO,phenotype,PHENOTYPE_18471
18472,18472,18472,18472,18472,18472,18472,18472,25284,Sleep-interrupting,HPO,phenotype,PHENOTYPE_18472
18473,18473,18473,18473,18473,18473,18473,18473,25499,Class I obesity,HPO,phenotype,PHENOTYPE_18473
18474,18474,18474,18474,18474,18474,18474,18474,32432,Increased HDL3c concentration,HPO,phenotype,PHENOTYPE_18474
18475,18475,18475,18475,18475,18475,18475,18475,20147,2-Methylbutyryl glycinuria,HPO,phenotype,PHENOTYPE_18475
18476,18476,18476,18476,18476,18476,18476,18476,989,Pruritus,HPO,phenotype,PHENOTYPE_18476
18477,18477,18477,18477,18477,18477,18477,18477,3431,Decreased motor nerve conduction velocity,HPO,phenotype,PHENOTYPE_18477
18478,18478,18478,18478,18478,18478,18478,18478,40107,Abnormal posterior semicircular canal morphology,HPO,phenotype,PHENOTYPE_18478
18479,18479,18479,18479,18479,18479,18479,18479,33641,Aortic valve leaflet calcification,HPO,phenotype,PHENOTYPE_18479
18480,18480,18480,18480,18480,18480,18480,18480,9746,Thick nasal septum,HPO,phenotype,PHENOTYPE_18480
18481,18481,18481,18481,18481,18481,18481,18481,11655,Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis,HPO,phenotype,PHENOTYPE_18481
18482,18482,18482,18482,18482,18482,18482,18482,100908,Sclerosis of the proximal phalanx of the 2nd finger,HPO,phenotype,PHENOTYPE_18482
18483,18483,18483,18483,18483,18483,18483,18483,430124,Positive CSF toxoplasma gondii nucleic acid test,HPO,phenotype,PHENOTYPE_18483
18484,18484,18484,18484,18484,18484,18484,18484,2828,Multiple joint contractures,HPO,phenotype,PHENOTYPE_18484
18485,18485,18485,18485,18485,18485,18485,18485,25672,Fetal skin edema,HPO,phenotype,PHENOTYPE_18485
18486,18486,18486,18486,18486,18486,18486,18486,34185,Median pseudocleft lip,HPO,phenotype,PHENOTYPE_18486
18487,18487,18487,18487,18487,18487,18487,18487,33539,Bilateral apical pulmonary fibrosis,HPO,phenotype,PHENOTYPE_18487
18488,18488,18488,18488,18488,18488,18488,18488,1528,Hemihypertrophy,HPO,phenotype,PHENOTYPE_18488
18489,18489,18489,18489,18489,18489,18489,18489,31049,Heavy-chain paraproteinemia,HPO,phenotype,PHENOTYPE_18489
18490,18490,18490,18490,18490,18490,18490,18490,8470,Lower thoracic interpediculate narrowness,HPO,phenotype,PHENOTYPE_18490
18491,18491,18491,18491,18491,18491,18491,18491,31102,Increased circulating antimullerian hormone concentration,HPO,phenotype,PHENOTYPE_18491
18492,18492,18492,18492,18492,18492,18492,18492,34293,Temporal lobe calcification,HPO,phenotype,PHENOTYPE_18492
18493,18493,18493,18493,18493,18493,18493,18493,12576,Glomerular C3 deposition,HPO,phenotype,PHENOTYPE_18493
18494,18494,18494,18494,18494,18494,18494,18494,32134,Chronic decreased circulating total IgG,HPO,phenotype,PHENOTYPE_18494
18495,18495,18495,18495,18495,18495,18495,18495,33316,Glomerular crescent formation,HPO,phenotype,PHENOTYPE_18495
18496,18496,18496,18496,18496,18496,18496,18496,33645,Midline brainstem cleft,HPO,phenotype,PHENOTYPE_18496
18497,18497,18497,18497,18497,18497,18497,18497,11955,Hepatic granulomatosis,HPO,phenotype,PHENOTYPE_18497
18498,18498,18498,18498,18498,18498,18498,18498,6278,Ectopic pancreatic tissue,HPO,phenotype,PHENOTYPE_18498
18499,18499,18499,18499,18499,18499,18499,18499,2815,Abnormality of the knee,HPO,phenotype,PHENOTYPE_18499
18500,18500,18500,18500,18500,18500,18500,18500,31843,Abnormally slow thought process,HPO,phenotype,PHENOTYPE_18500
18501,18501,18501,18501,18501,18501,18501,18501,30599,Abnormal Esterman grid perimetry test,HPO,phenotype,PHENOTYPE_18501
18502,18502,18502,18502,18502,18502,18502,18502,3365,Arthralgia of the hip,HPO,phenotype,PHENOTYPE_18502
18503,18503,18503,18503,18503,18503,18503,18503,20142,Blood pressure substantially higher in arms than legs,HPO,phenotype,PHENOTYPE_18503
18504,18504,18504,18504,18504,18504,18504,18504,4000105,Abnormal four chamber view of the fetal heart,HPO,phenotype,PHENOTYPE_18504
18505,18505,18505,18505,18505,18505,18505,18505,12184,Increased HDL cholesterol concentration,HPO,phenotype,PHENOTYPE_18505