diff --git "a/clinphen_src/data/hpo_synonyms.txt" "b/clinphen_src/data/hpo_synonyms.txt" new file mode 100644--- /dev/null +++ "b/clinphen_src/data/hpo_synonyms.txt" @@ -0,0 +1,29425 @@ +HP:0003566 e2 elevated prostaglandin +HP:0003566 e2 increased prostaglandin serum +HP:0004246 delayed ossification scaphoid +HP:0004246 delayed maturation scaphoid +HP:0003296 hyperthreoninuria +HP:0003296 high levels threonine urine +HP:0003297 lysinuria +HP:0003297 high levels lysine urine +HP:0003297 hyperlysinuria +HP:0003562 abnormal invasion metaphyseal vascular +HP:0003563 hypobetalipoproteinemia +HP:0003563 decreased ldl +HP:0003563 cholesterol concentration decreased ldl +HP:0003563 circulating decreased density levels lipoprotein low +HP:0003292 decreased leptin serum +HP:0003292 circulating leptin level reduced +HP:0003561 3rd birth length percentile +HP:0003561 3rd birth length less percentile than +HP:0000978 bruising susceptibility +HP:0000978 bruising easy +HP:0000978 bruisability easy +HP:0000978 bruise easily +HP:0000978 bruisability +HP:0003298 bifida occulta spina +HP:0003564 at dependent folate fragile site xq28 +HP:0003568 deficiency isomerase phosphohexose +HP:0003568 activity decreased glucosephosphate isomerase +HP:0003568 activity decreased glucose isomerase phosphate +HP:0003568 deficiency glucosephosphate isomerase +HP:0004249 accessory lunate +HP:0030010 hydrometrocolpos +HP:0003565 elevated erythrocyte rate sedimentation +HP:0003565 elevated rate sedimentation +HP:0003565 erythrocyte increased rate sedimentation +HP:0003565 erythrocyte raised rate sedimentation +HP:0003565 erythrocyte high rate sedimentation +HP:0003565 esr high +HP:0200017 agenesis cerebral matter white +HP:0200017 agenesis matter white +HP:0012392 hyporeflexia mandibular +HP:0012392 hyporeflexia jaw +HP:0004242 bones wide wrist +HP:0004242 bones broad carpal +HP:0004242 bones carpal wide +HP:0031133 annexin binding increased phosphatidylserine platelet to v +HP:0030012 abnormal female physiology reproductive system +HP:0030012 abnormal female genital physiology system +HP:0004243 abnormality scaphoid +HP:0003560 dystrophy muscular +HP:0003560 biopsy changes dystrophic muscle shows +HP:0030014 dysfunction female sexual +HP:0004241 bones calcification carpal stippled +HP:0004241 calcifications carpals punctate +HP:0030015 disorder female orgasmic +HP:0030015 anorgasmia female +HP:0004689 fourth metatarsals short +HP:0004689 bilateral fourth metatarsal shortening +HP:0004689 fourth metatarsus short +HP:0004689 4th bone foot long short +HP:0004689 fourth metatarsal short +HP:0030016 dyspareunia +HP:0012394 allergy contrast iodine +HP:0010979 abnormality cholesterol level lipoprotein +HP:0010979 abnormality cholesterol concentration lipoprotein +HP:0010978 abnormality immune physiology system +HP:0004248 abnormality bone lunate +HP:0410056 cerebrospinal decreased erythritol fluid level +HP:0410056 csf decreased erythritol level +HP:0410057 d increased level plasma threitol +HP:0410054 decreased gaba level serum +HP:0410054 acid aminobutyric decreased gamma level serum +HP:0410055 decreased erythritol level urine +HP:0410052 allantoin increased level serum +HP:0100319 bodies cerebral colloid +HP:0100319 bodies cerebral hyaline +HP:0410050 1 5 anhydro d decreased glucitol level serum +HP:0410050 1 5 anhydroglucitol decreased level serum +HP:0410050 1 5 ag decreased level serum +HP:0410051 3 acid hydroxy increased level methylglutaric urine +HP:0410051 3 acid an hydroxy increase level methylglutaric urine +HP:0410058 csf d increased level threitol +HP:0410058 cerebrospinal d fluid increased level threitol +HP:0410059 d increased level threitol urine +HP:0011402 demyelinating neuropathy sensory +HP:0011403 abnormal blood cord umbilical vessels +HP:0011400 abnormal formation myelin sheaths +HP:0011400 abnormal cns myelination +HP:0011401 delayed myelination peripheral +HP:0011158 auditory focal seizure sensory +HP:0011158 auditory aura +HP:0011159 auras epigastric +HP:0011159 abdominal aura +HP:0011159 aura visceral +HP:0011404 lethal short stature trunk +HP:0011404 dwarfism lethal short trunk +HP:0011405 childhood limb onset short stature +HP:0011405 childhood during dwarfism identifiable limb short +HP:0011154 autonomic focal seizure +HP:0011154 autonomic focal seizures +HP:0011155 altered autonomic localized responsiveness seizures with +HP:0011155 altered autonomic focal responsiveness seizures with +HP:0011155 altered autonomic partial responsiveness seizures with +HP:0011156 altered autonomic partial responsiveness seizures without +HP:0011156 altered autonomic focal responsiveness seizures without +HP:0011156 altered autonomic localized responsiveness seizures without +HP:0011157 focal seizure sensory +HP:0011157 aura epileptic +HP:0011150 absences myoclonic +HP:0011150 absence myoclonic +HP:0011151 obtundation status +HP:0011152 early mal onset petit seizures +HP:0011152 absence early onset seizures +HP:0011153 focal motor seizures +HP:0011153 focal motor seizure +HP:0011153 localized motor seizures +HP:0011153 motor partial seizures +HP:0009878 associated ataxia cerebellar gait quadrupedal with +HP:0009879 cortical gyral simplification +HP:0009879 gyral pattern simplified +HP:0009875 bone hand outermost shaped triangular +HP:0009875 distal hand phalanges shaped triangular +HP:0002165 nails pterygium +HP:0002164 dysplasia nail +HP:0002164 onychodysplasia +HP:0002164 dysplastic nails +HP:0002164 atypical growth nail +HP:0002167 disorder speech +HP:0002167 impairment neurological speech +HP:0002167 impediment speech +HP:0002167 impairment speech +HP:0002166 distal impairment limbs lower vibratory +HP:0002166 decreased extremities lower sense vibratory +HP:0002166 distal especially loss sense sensory vibratory +HP:0002166 decreased limb lower sense vibratory +HP:0002166 impaired limbs lower sensation vibration +HP:0002166 diminished legs sensation vibratory +HP:0002166 decreased limbs lower sense vibratory +HP:0002161 hyperlysinemia +HP:0002161 blood elevated lysine +HP:0002160 homocystinemia +HP:0002160 hyperhomocystinemia +HP:0002160 blood elevated homocystine +HP:0002162 at back hairline low neck +HP:0002162 hair line low posterior +HP:0002162 hairline low posterior +HP:0410135 cold urticaria +HP:0410134 physical urticaria +HP:0410137 solar urticaria +HP:0410136 aquagenic urticaria +HP:0002169 clonus +HP:0002169 contractions involuntary muscular relaxations rhythmic +HP:0002168 explosive speech +HP:0002168 scanning speech +HP:0410133 chronic idiopathic urticaria +HP:0410133 chronic spontaneous urticaria +HP:0410132 5 increased l level oxo proline urine +HP:0410132 acid increased l level pyroglutamic urine +HP:0030285 cerebellar peduncle splayed superior +HP:0030284 tongue triangular +HP:0030284 shaped tongue triangle +HP:0030286 atrophic cerebellar peduncle superior +HP:0030281 c3 c4 cervical fusion vertebral +HP:0030280 gap rib +HP:0030283 absence partial pellucidum septum +HP:0030282 gap posterior rib +HP:0030282 defect dorsal rib +HP:0007535 hypopigmented streaks +HP:0007534 alopecia occipital posterior +HP:0007537 photosensitivity severe +HP:0007537 sensitivity severe sun +HP:0007536 aplasia congenita cutis midline scalp vertex +HP:0030289 epiphysis femoral flattened +HP:0030289 bone end flattended part thigh +HP:0007530 hyperkeratosis palmoplantar punctate +HP:0007592 aplasia eccrine glands hypoplastia sweat +HP:0007592 absent eccrine glands hypoplastic sweat +HP:0030139 a after bleeding excessive venipuncture +HP:0030138 bleeding cuts excessive from superficial +HP:0030137 bleeding circumcision following prolonged +HP:0030136 activity assay cofactor enhanced ristocetin +HP:0030135 absence factor intermediate multimers von willibrand +HP:0030134 absence factor multimers total von willebrand +HP:0030133 abnormal factor large multimers presence ultra von willebrand +HP:0030132 absence factor large multimers von willibrand +HP:0030131 abnormal distribution factor multimer von willebrand +HP:0030130 activity binding collagen factor impaired von willibrand +HP:0006837 horner syndrome +HP:0006768 localized neuroblastoma +HP:0008497 craniofacial dysostosis +HP:0006855 atrophy cerebellar vermis +HP:0008496 double eyelashes row +HP:0008496 eyelashes rows two +HP:0008496 extra eyelashes rows +HP:0008496 eyelashes multiple rows +HP:0025078 alternans electrical +HP:0025079 abscess pancreatic +HP:0025079 abscess pancreas +HP:0011671 azygous cava continuation inferior interrupted vena with +HP:0025070 abnormal u wave +HP:0025071 inversion u wave +HP:0025072 prominent u wave +HP:0025072 amplitude increased u wave +HP:0025073 exercise induced inversion u wave +HP:0025074 abnormal complex qrs +HP:0025075 increased qrs voltage +HP:0025076 abnormal qrs voltage +HP:0025077 decreased qrs voltage +HP:0006660 aplastic clavicle +HP:0006660 absent clavicles +HP:0006660 absent collarbone +HP:0006660 aplastic clavicles +HP:0006913 atrophy cortical frontal +HP:0006913 cortex degeneration frontal +HP:0006597 diaphragmatic paralysis +HP:0006597 diaphragm paralyzed +HP:0006915 adolescence by childhood inability to walk +HP:0006916 accumulation autofluorescent curvilinear intraaxonal lipopigment material storage +HP:0006916 accumulation curvilinear intraaxonal profiles +HP:0006665 coat hanger ribs sign +HP:0006918 cerebral diffuse sclerosis +HP:0006919 aggressive behavior violent +HP:0006919 abnormal aggressive behavior impulsive or violent +HP:0006668 rib twelfth underdeveloped +HP:0006668 rib small twelfth +HP:0006668 hypoplasia rib twelfth +HP:0011670 cava coronary draining left sinus superior to vena +HP:0003417 clefts coronal +HP:0003417 clefts coronal vertebral +HP:0003417 cleft coronal vertebrae +HP:0200128 biventricular hypertrophy +HP:0031668 diastolic heart murmur +HP:0031669 middiastolic murmur +HP:0031664 heart murmur systolic +HP:0031665 midsystolic murmur +HP:0031666 late murmur systolic +HP:0200122 atypical hepatitis or prolonged +HP:0200122 atypical inflammation liver or prolonged +HP:0031660 first heart loud sound +HP:0031661 abnormal heart second sound +HP:0031662 fixed s2 splitting +HP:0031662 fixed heart second sound splitting +HP:0031663 reversed s2 splitting +HP:0031663 heart reversed second sound splitting +HP:0031663 heart paradoxical second sound splitting +HP:0031663 paradoxical s2 splitting +HP:0006006 degeneration hand muscles small +HP:0006006 hand hypotrophy muscles small +HP:0006000 obstruction ureteral +HP:0003219 aciduria ethylmalonic +HP:0006099 hyperextensibility joint metacarpophalangeal +HP:0006008 brachydactyly unilateral +HP:0006008 digits on one short side +HP:0006009 bones digital wide +HP:0006009 broad phalanges +HP:0006009 phalanges wide +HP:0006009 phalanges widened +HP:0006009 broad phalanx +HP:0005297 occlusive premature stenosis vascular +HP:0005294 arterial dissection +HP:0005295 aorta pseudocoarctation +HP:0005292 arteries coronary intimal thickening +HP:0005293 insufficiency venous +HP:0005293 functioning poorly veins +HP:0005290 artery carotid hypotrophic internal +HP:0005290 aplasia artery carotid internal +HP:0005290 artery carotid decreased internal size +HP:0005290 artery carotid hypoplasia internal +HP:0005290 artery carotid internal small +HP:0005290 artery carotid deficiency internal +HP:0005291 arteriopathy inflammatory +HP:0011674 cardiac teratoma +HP:0031259 inflammed ovary +HP:0031259 oophoritis +HP:0031258 delirium +HP:0031255 arteriovenous hypothalamic malformation +HP:0031254 arteriovenous malformation thalamic +HP:0031257 arteriovenous malformation maxilla +HP:0031256 arteriovenous malformation nerve optic +HP:0031251 abnormal artery morphology subclavian +HP:0031250 fissure lip +HP:0031253 anomalous artery left origin subclavian +HP:0031252 artery dilated left subclavian +HP:0008185 early males onset puberty +HP:0008185 males precocious puberty +HP:0008185 male precocious puberty +HP:0004749 atrial flutter +HP:0008186 adrenocortical cytomegaly +HP:0008181 abetalipoproteinemia +HP:0008180 creatine increased kinase moderately serum +HP:0008180 creatine increased kinase mildly serum +HP:0008180 creatine increased kinase mildly +HP:0008180 creatine elevated mildly phosphokinase +HP:0008182 adrenal cortex small +HP:0008182 adrenocortical hypoplasia +HP:0004743 chronic nephritis tubulointerstitial +HP:0004742 abnormality collecting renal system +HP:0004742 anomalies collecting renal system +HP:0004742 abnormal collecting system +HP:0008189 insensitivity insulin +HP:0008188 dysplasia thyroid +HP:0008188 dysgenesis thyroid +HP:0009595 neurofibromas occasional +HP:0009594 hamartoma retinal +HP:0009597 finger index phalanx proximal short +HP:0009597 2nd finger hypoplastic phalanx proximal small +HP:0009597 finger phalanx proximal second short +HP:0009597 2nd finger phalanx proximal short +HP:0009596 absent bone finger index innermost +HP:0009596 2nd aplasia finger phalanx proximal +HP:0009591 abnormality cranial eighth nerve +HP:0009591 abnormality cranial nerve viiith +HP:0009591 abnormality nerve vestibulocochlear +HP:0009590 schwannoma unilateral vestibular +HP:0009593 peripheral schwannoma +HP:0009592 astrocytoma +HP:0009599 abnormality epiphyses thumb +HP:0009599 abnormality bone end long part thumb +HP:0009599 abnormality epiphysis thumb +HP:0009598 2nd bone finger fused hand index innermost long with +HP:0009598 2nd finger metacarpal phalanx proximal symphalangism with +HP:0000408 hearing loss progressive sensorineural +HP:0000408 bilateral hearing loss progressive sensorineural +HP:0000408 hearing impairment progressive sensorineural +HP:0000158 hyperplasia lingual +HP:0000158 large tongue +HP:0000158 hyperplasia tongue +HP:0000158 macroglossia +HP:0000158 glossal hypertrophy +HP:0000158 hypertrophy lingual +HP:0000158 hypertrophy tongue +HP:0000158 abnormally large tongue +HP:0000158 increased size tongue +HP:0000159 deformity lip +HP:0000159 anomaly lip +HP:0000159 abnormal lip +HP:0000159 abnormality lip +HP:0000159 lip malformation +HP:0000159 abnormal lip morphology +HP:0005432 hypogammaglobulinemia infancy transient +HP:0005432 deficiency gammaglobulin newborn +HP:0000153 abnormality mouth +HP:0000153 abnormal mouth +HP:0000402 auditory external meatus narrow +HP:0000402 auditory canals external narrow +HP:0000402 ear from middle narrowing outer passageway to +HP:0000402 auditory canal external stenosis +HP:0000402 auditory canals narrow +HP:0000402 auditory canal external stenotic +HP:0000402 canal ear narrow +HP:0000151 aplasia uterus +HP:0000151 absent uterus +HP:0005437 childhood early infancy infections recurrent +HP:0000154 aperture large oral +HP:0000154 mouth wide +HP:0000154 macrostomia +HP:0000154 broad mouth +HP:0000154 large mouth +HP:0005435 cell function impaired t +HP:0005435 cell dysfunction t +HP:0100638 pharynx tumor +HP:0100638 neoplasm pharyngeal +HP:0100638 neoplasm pharynx +HP:0100638 neoplasia pharynx +HP:0100639 abnormalities erectile +HP:0100639 abnormal erection +HP:0011369 blue mongolian spot +HP:0011368 epidermal thickening +HP:0011368 abnormality keratinization +HP:0008239 adrenal hypoplasia medullary +HP:0008239 adrenal medulla small +HP:0008237 hypothyroidism tertiary +HP:0008237 hypothalamic hypothyroidism +HP:0008236 isosexual precocious puberty +HP:0011361 abnormal birth hair pattern since +HP:0011361 abnormal hair pattern +HP:0011360 abnormal acquired hair pattern +HP:0011367 nails yellow +HP:0008232 circulating follicle hormone increased level stimulating +HP:0008232 elevated fsh level +HP:0008232 elevated follicle hormone plasma stimulating +HP:0008232 elevated follicle hormone stimulating +HP:0008232 circulating elevated follicle hormone level stimulating +HP:0008231 adrenal hyperplasia macronodular +HP:0008230 decreased males testosterone +HP:0012249 abnormal segment st +HP:0004529 alopecia atrophic patchy +HP:0004528 generalized hypotrichosis +HP:0004527 along clumps distributed hair irregularly large pigment shaft +HP:0009046 difficulty running +HP:0009045 exercise induced rhabdomyolysis +HP:0009045 exercise rhabdomyolysis with +HP:0004524 growth hair reduced region temporal +HP:0004524 hypotrichosis temporal +HP:0004523 eyebrows long +HP:0004523 eyebrow horizontal increased length +HP:0004523 eyebrow increased length transverse +HP:0004523 elongated eyebrow +HP:0009042 hypertrophy marked muscular +HP:0003164 deficiency gonadotropin hormone hypothalamic releasing +HP:0003164 deficiency gnrh hypothalamic +HP:0003165 elevated pth serum +HP:0003165 circulating elevated level pth +HP:0003165 elevated hormone level parathyroid serum +HP:0003165 circulating elevated hormone level parathyroid +HP:0003165 elevated hormone parathyroid serum +HP:0003165 hormone increased parathyroid serum +HP:0031879 abnormal eyelid physiology +HP:0031878 acromicria +HP:0002318 cervical myelopathy +HP:0031871 abnormal cell langerhans morphology +HP:0031870 phosphohydroxylysinuria +HP:0031873 chronotype early +HP:0031873 early onset sleep +HP:0031872 absent birbeck cells granules langerhans +HP:0031875 abnormal hepcidin level +HP:0031874 chronotype late +HP:0031874 late onset sleep +HP:0031877 elevated hepcidin level +HP:0031876 decreased hepcidin level +HP:0012717 conductive hearing impairment severe +HP:0012717 conductive hearing loss severe +HP:0011099 hemiplegia spastic +HP:0011099 hemiparesis spastic +HP:0011098 dyspraxia verbal +HP:0011098 apraxia speech +HP:0012716 conductive hearing loss moderate +HP:0012716 conductive hearing impairment moderate +HP:0011095 front lower protrusion teeth upper +HP:0011095 buck teeth +HP:0011095 incisors maxillary protrusion +HP:0011095 forward out sticking teeth upper +HP:0011095 abnormality horizontal incisor relationship +HP:0011095 overjet +HP:0011094 overbite +HP:0011094 bite scissors +HP:0011094 deep overbite +HP:0011094 bite deep +HP:0011094 incisors increased lower overlap upper +HP:0011097 convulsions salaam +HP:0011097 epileptic spasms +HP:0011097 salaam seizures +HP:0011097 syndrome west +HP:0011096 demyelination +HP:0011096 demyelination peripheral +HP:0011091 gemination +HP:0011091 crown splitting tooth +HP:0011091 gemination tooth +HP:0011090 fusion teeth +HP:0011090 fused teeth +HP:0011090 joined teeth +HP:0011093 molar premolar shape +HP:0011093 enlarged premolar +HP:0011093 increased premolar size +HP:0011093 bicuspid molarization +HP:0011093 molarization premolar +HP:0011093 bicuspid molar shape +HP:0011092 first molar permanent syphilitic +HP:0011092 molar mulberry +HP:0400003 absence ear external focal +HP:0012713 hearing impairment moderate +HP:0012244 abnormal determination sex +HP:0012247 anosmia specific +HP:0400007 polymenorrhea +HP:0003179 acetabulae protrusio +HP:0003179 acetabuli protrusio +HP:0011894 a2 aggregation agonist impaired induced platelet thromboxane +HP:0011897 neutrophilia +HP:0011897 blood counts increased neutrophil +HP:0011896 haemorrhage subconjunctival +HP:0011896 hemorrhage subconjunctival +HP:0011891 hemorrhage partum post +HP:0011891 bleeding delivery poost +HP:0011891 haemorrhage partum post +HP:0011890 bleeding following procedure prolonged +HP:0011893 abnormal count leukocyte +HP:0011893 abnormal blood cell count white +HP:0011892 deficiency k vitamin +HP:0003170 abnormality hipbone socket +HP:0003170 abnormality acetabulum +HP:0003170 abnormality acetabular +HP:0003173 bones hypoplastic pubic +HP:0003173 hypoplastic pubis +HP:0003173 bone hypoplastic pubic +HP:0003172 abnormality pubis +HP:0003172 abnormality bones pubic +HP:0003172 abnormality bone pubic +HP:0003175 bones hypoplastic ischial +HP:0003175 hypoplastic ischia +HP:0003175 hypoplastic ischium +HP:0003175 hypoplastic ischii +HP:0003174 abnormality bones ischial +HP:0003174 anomaly ischium +HP:0003174 abnormality ischium +HP:0003177 bones iliac square +HP:0003177 bones iliac squared +HP:0003177 bones iliac squaring +HP:0002370 coordination poor +HP:0002371 loss speech +HP:0002372 eeg interictal normal +HP:0002373 fever induced seizures +HP:0002373 associated fever generalized seizures with +HP:0002373 febrile seizures +HP:0002373 childhood early febrile seizures +HP:0002373 convulsions febrile +HP:0002374 diminished movement +HP:0002375 decreased movements spontaneous +HP:0002375 hypokinesia +HP:0002375 decreased movement muscle +HP:0002375 decreased movement spontaneous +HP:0002376 progressive psychomotor regression +HP:0002376 psychomotor regression +HP:0002376 infants psychomotor regression +HP:0002376 developmental loss milestones +HP:0002376 developmental regression +HP:0002376 childhood deterioration mental +HP:0002376 neurodevelopmental regression +HP:0002376 beginning infancy psychomotor regression +HP:0002805 accelerated after age bone puberty +HP:0002378 hand tremor +HP:0002378 hands tremor +HP:0002378 hands tremors +HP:0010413 2nd absent bone outermost small toe +HP:0010413 2nd absent bone outermost toe underdeveloped +HP:0010413 2nd aplasia distal hypoplasia phalanx toe +HP:0002808 kyphosis +HP:0002808 deformity gibbus +HP:0002808 hyperkyphosis +HP:0002808 back hunched +HP:0002808 back round +HP:0010411 2nd middle phalanx shaped toe triangular +HP:0010411 2nd bone middle shaped toe triangular +HP:0010416 2nd bone curved outermost toe +HP:0010416 2nd curved distal phalanx toe +HP:0010417 2nd defects distal osteolytic phalanx toe +HP:0010414 2nd bone outermost toe wide +HP:0010414 2nd bone broad outermost toe +HP:0010414 2nd broad distal phalanx toe +HP:0010415 2nd bullet distal phalanx shaped toe +HP:0010415 2nd bone bullet outermost shaped toe +HP:0004679 ankle bones large +HP:0004679 bones large tarsal +HP:0011408 growth intrauterine moderate retardation +HP:0011409 abnormality membranes placental +HP:0002340 atrophy caudate +HP:0002340 caudate degeneration +HP:0003953 aplasia bones forearm +HP:0003953 absent bone forearm +HP:0031419 androgen binding level protein reduced +HP:0031419 binding hormone level protein reduced sex +HP:0031418 bmi increased +HP:0031418 body increased index mass +HP:0031413 length short telomere +HP:0031412 abnormal morphology telomere +HP:0031411 abnormal chromosome morphology +HP:0031410 abnormal bright cd56 cells dim distribution nk +HP:0031410 abnormal bright cd56 cells dim distribution killer natural +HP:0031417 rhinorrhea +HP:0031417 nose runny +HP:0031417 discharge nasal +HP:0031416 abnormal mucus nasal secretion +HP:0031415 1 25 dihydroxycholecalciferol high serum +HP:0031415 calcitriol high serum +HP:0031415 1 25 d3 dihydroxyvitamin high serum +HP:0031414 calcidiol high serum +HP:0031414 calcifediol high serum +HP:0031414 25 high hydroxycholecalciferol serum +HP:0011534 abnormal cardiac orientation segments spatial +HP:0006279 beta cell dysfunction +HP:0006278 ectopic pancreatic tissue +HP:0006278 abnormal location pancreas +HP:0006274 beta cells pancreatic reduced +HP:0006277 hyperplasia pancreatic +HP:0006276 hyperechogenic pancreas +HP:0006270 spleen underdeveloped +HP:0006270 hypoplastic spleen +HP:0006273 lymphangiectasis pancreatic +HP:0011935 decreased urate urinary +HP:0005278 hypotrophic nasal tip +HP:0005278 hypoplastic nasal tip +HP:0005278 nose small tip +HP:0005278 nasal tip underdevelopment +HP:0005278 decreased nasal size tip +HP:0005278 nasal small tip +HP:0005278 nose tip underdevelopment +HP:0005278 hypoplasia nose tip +HP:0005278 decreased nose size tip +HP:0005278 hypotrophic nose tip +HP:0005278 deficient nasal tip +HP:0005278 aplasia nasal tip +HP:0100163 3rd epiphysis ivory phalanx proximal toe +HP:0100163 3rd bone density end increased innermost part toe +HP:0004947 arteriovenous fistula +HP:0004947 arteriovenous fistulas +HP:0005275 cartilaginous nasal ossification +HP:0005275 cartilaginous nose ossification +HP:0006932 episodes psychotic transient +HP:0009606 distal duplication phalanx thumb +HP:0009606 duplicated phalanx terminal thumb +HP:0009606 bone complete duplication outermost thumb +HP:0009606 complete distal duplication phalanx thumb +HP:0009606 distal double phalanges thumb +HP:0009606 duplication phalanx terminal thumb +HP:0009601 absent thumb underdeveloped +HP:0009601 absent hypoplastic thumbs +HP:0009601 aplasia hypoplasia thumbs +HP:0009601 aplastic hypoplastic thumbs +HP:0009601 absent small thumb +HP:0009601 absent hypoplastic thumb +HP:0009601 aplasia hypoplasia thumb +HP:0009601 absent hypoplastic or thumbs +HP:0009601 aplastic hypoplastic thumbs to +HP:0009600 contracture thumb +HP:0009600 contracture flexion thumb +HP:0009600 deformities flexion thumbs +HP:0009600 contractures joint thumb +HP:0009603 deviated thumb +HP:0009603 deviation thumb +HP:0009603 abnormal placement thumb +HP:0009603 displacement thumb +HP:0009602 abnormality phalanx thumb +HP:0009602 abnormality bones thumb +HP:0009602 abnormality phalanges thumb +HP:0009609 1st bone complete duplication hand long partial +HP:0009609 1st duplication metacarpal +HP:0009609 1st complete duplication metacarpal partial +HP:0009608 bone complete duplication innermost thumb +HP:0009608 complete duplication phalanx proximal thumb +HP:0012313 heberden node s +HP:0012312 monocytopenia +HP:0012312 blood low monocyte number +HP:0012311 blood high monocyte number +HP:0012311 monocytosis +HP:0008959 distal limb muscle upper weakness +HP:0012317 arthritis sacroiliac +HP:0012317 sacroiliitis +HP:0012316 fibrous neoplasm tissue +HP:0012315 histiocytoma +HP:0012314 bouchard node s +HP:0007272 deterioration progressive psychomotor +HP:0007272 deterioration mental motor progressive +HP:0008953 hypoplasia major pectoralis +HP:0008953 hypoplasia major muscle pectoralis +HP:0007270 atypical mal petit seizures +HP:0007270 absence atypical seizures +HP:0007270 absence atypical seizure +HP:0007271 myelomeningocele occipital +HP:0008956 atrophy limb lower muscle proximal +HP:0008956 amyotrophy musculature thigh +HP:0008956 muscle thigh wasting +HP:0008956 amyotrophy involving thigh +HP:0008956 amyotrophy limb lower proximal +HP:0008956 atrophy muscle thigh +HP:0007277 anterior horn motor neurons paucity +HP:0007274 bacterial meningitis recurrent +HP:0008955 atrophy distal muscular progressive +HP:0006499 abnormality epiphysis femoral +HP:0006499 abnormality end part thighbone +HP:0006498 aplastic hypoplastic or patellae +HP:0006498 aplasia hypoplasia patellar +HP:0006498 absent hypoplastic patella +HP:0006498 absent hypoplastic or patella +HP:0006498 absent kneecap small +HP:0006498 aplasia hypoplasia patella +HP:0006498 absent kneecap underdeveloped +HP:0006498 absent hypoplastic or patellae +HP:0006498 absent patellae small to +HP:0006693 myocardial steatosis +HP:0006491 abnormality portion shinbone wide +HP:0006491 abnormality metaphysis tibial +HP:0006491 abnormality portion shankbone wide +HP:0006490 abnormality bone limb lower portion wide +HP:0006490 abnormality limb lower metaphyses +HP:0006493 absent bones limb lower small +HP:0006493 aplasia bones hypoplasia involving limbs lower +HP:0006493 absent bones limb lower underdeveloped +HP:0006492 absent bone calf underdeveloped +HP:0006492 aplasia fibular hypoplasia +HP:0006492 absent bone calf small +HP:0006492 aplasia fibula hypoplasia +HP:0006492 aplastic fibulae hypoplastic +HP:0006495 absence bone forearm inner underdevelopment +HP:0006495 aplasia hypoplasia ulnar +HP:0006495 absent hypoplastic ulnae +HP:0006495 absent small ulna +HP:0006495 aplasia hypoplasia ulna +HP:0006495 absence bilateral hypoplasia or ulna unilateral +HP:0000028 cryptorchidism +HP:0000028 testis undescended +HP:0000028 testes undescended +HP:0000028 cryptorchism +HP:0006496 aplasia bones hypoplasia involving limbs upper +HP:0006496 absent bones limbs small upper +HP:0006496 absent bones limbs underdeveloped upper +HP:0004050 absent hand +HP:0004050 acheiria +HP:0004057 pseudosyndactyly +HP:0004057 deformity mitten +HP:0001722 congestive failure heart high output +HP:0001051 seborrhea +HP:0001051 dermatitis dysseborrheic +HP:0001051 dermatitis seborrheic +HP:0001051 eczema seborrheic +HP:0001052 nevus simplex +HP:0001052 port stain wine +HP:0001052 flammeus nevus +HP:0001053 hypopigmented patches skin +HP:0001053 color loss patchy skin +HP:0001054 multiple nevi pigmented +HP:0001054 nevi numerous +HP:0001054 moles numerous +HP:0001727 stroke thromboembolic +HP:0001056 cyst millium +HP:0001056 milk spot +HP:0001056 milia +HP:0001057 aplasia cutis +HP:0001057 scars +HP:0001057 absence skin +HP:0001057 aplasia congenita cutis +HP:0001057 absence at birth part skin +HP:0001058 healing poor wound +HP:0001059 eye s surfer +HP:0001059 pterygium +HP:0001059 pterygia +HP:0004054 bone density hand increased +HP:0004054 bone hand sclerosis +HP:0004054 bones generalized hand sclerosis +HP:0005502 cell fragility increased red +HP:0005502 erythrocyte fragility increased osmotic +HP:0005502 cell fragility increased osmotic red +HP:0000023 hernia inguinal +HP:0006147 2nd 5th fusion joints pip progressive +HP:0000020 bladder control loss +HP:0000020 bladder incontinence +HP:0000020 incontinence urinary +HP:0006414 bowing distal tibial +HP:0006414 bowing distal tibia +HP:0006414 ankle at bowing tibial +HP:0100847 palmoplantar pustulosis +HP:0100847 palms pustulosis soles +HP:0100847 palmoplantar pustules +HP:0100847 et palmaris plantaris pustulosis +HP:0100845 anaphylaxis +HP:0100845 anaphylactic shock +HP:0100844 fistula pancreatic +HP:0006145 bones central hand long shaped y +HP:0006145 central metacarpal shaped y +HP:0100841 microgastria +HP:0100840 aplasia eyebrow hypoplasia +HP:0100840 eyebrow lack +HP:0100840 absent eyebrows sparse +HP:0100840 absent eyebrows or sparse +HP:0100840 absent eyebrows sparse to +HP:0100840 agenesis eyebrow +HP:0100840 eyebrow hypotrophic +HP:0100840 absence eyebrow +HP:0100840 eyebrow missing +HP:0000026 hypogonadism male +HP:0000026 decreased function gonad male +HP:0100849 neoplasm scrotum +HP:0100849 neoplasia scrotum +HP:0100849 scrotum tumor +HP:0100848 external genitalia male neoplasm +HP:0100848 external genitalia male neoplasia +HP:0000024 inflammation prostate +HP:0000024 prostatitis +HP:0007413 forehead on port stain wine +HP:0007413 flammeus forehead nevus +HP:0005505 anemia refractory +HP:0007410 hyperhidrosis palms soles +HP:0007410 hyperhidrosis palmoplantar +HP:0007410 excessive palms soles sweating +HP:0030421 epididymal neoplasm +HP:0030420 adenocarcinoma vulvar +HP:0030423 cyst splenic +HP:0030423 cyst on spleen +HP:0030934 erythroplasia oral +HP:0030934 erythroplakia oral +HP:0030933 1 6 apgar minute score +HP:0030932 1 5 apgar minute score +HP:0030427 fibroma jaw ossifying +HP:0030426 fibroma ossifying +HP:0030429 angiofibroma juvenile nasopharyngeal +HP:0030428 cutaneous myxoma +HP:0030939 palpebral thickening +HP:0030939 but eyelids nonswollen thickened +HP:0030938 bodies enteric inclusion intraneuronal nuclear +HP:0007414 feet hands newborn skin wrinkled +HP:0007414 feet hands neonatal skin wrinkled +HP:0040035 abnormality bone fourth metatarsal +HP:0040035 4th abnormality bone foot long +HP:0040034 2nd abnormality bone foot long +HP:0040034 abnormality bone metatarsal second +HP:0040036 fingernail onychogryposis +HP:0040036 curving fingernail overgrowth +HP:0040031 chorioretinal hyperpigmentation +HP:0040030 chorioretinal hypopigmentation +HP:0040033 5th absent bone foot long underdeveloped +HP:0040033 aplasia bone fifth hypoplasia metatarsal +HP:0040033 5th absent bone foot long small +HP:0040032 eyelid short upper +HP:0040032 eyelid small upper +HP:0040032 eyelid hypotrophic upper +HP:0040032 decreased eyelid size upper +HP:0040032 eyelids hypoplasia upper +HP:0040032 eyelid underdevelopment upper +HP:0040039 fingernail onycholysis +HP:0040039 fingernails onycholysis +HP:0040039 detachment fingernails +HP:0011211 eeg grade i photoparoxysmal response with +HP:0011210 eeg occipital slowing with +HP:0011217 abnormal occiput shape +HP:0011217 abnormal back shape skull +HP:0011217 abnormal cranium posterior shape +HP:0011217 abnormal head posterior shape +HP:0011217 abnormal posterior shape skull +HP:0011217 abnormal back head shape +HP:0000893 bulging costochondral junction +HP:0000892 bifid ribs +HP:0000892 cleft ribs +HP:0000892 ribs split +HP:0000891 cervical ribs +HP:0000234 abnormality head +HP:0000234 abnormal head +HP:0000233 borders thin vermilion +HP:0000233 thin vermillion +HP:0000233 border thin vermilion +HP:0000233 decreased lip vermillion volume +HP:0000233 decreased lip volume +HP:0000233 lips thin +HP:0000232 lip lower protruding +HP:0000232 everted lip lower +HP:0000232 lip lower outward turned +HP:0000232 drooping lip lower +HP:0000232 everted lip lower vermilion +HP:0000232 eclabium lip lower +HP:0000232 everted lip lower prominent +HP:0000895 clavicle hook lateral +HP:0000895 clavicle hook shaped +HP:0000895 clavicle handlebar +HP:0000895 clavicle hooked +HP:0000895 collarbone hook shaped +HP:0000230 gingival inflammation +HP:0000230 gums red swollen +HP:0000230 gingivitis +HP:0000230 gums inflamed +HP:0005609 dysfunction gallbladder +HP:0005608 bilobate gallbladder +HP:0005608 duplication gallbladder +HP:0005608 double gallbladder +HP:0005608 bilobed gallbladder +HP:0011214 eeg grade iv photoparoxysmal response with +HP:0000239 fontanel large +HP:0000239 bregma sutures wide +HP:0000239 fontanelles wide +HP:0000239 enlarged fontanelles +HP:0000239 fontanelles large +HP:0000239 fontanel persistent wide +HP:0000239 bregma large sutures +HP:0000239 fontanelle large +HP:0000239 closing fontanelle large late +HP:0000239 fontanels large +HP:0000238 hydrocephalus +HP:0000238 brain cerebrospinal fluid much too +HP:0000238 hydrocephalus nonsyndromal +HP:0000238 hydrocephaly +HP:0003764 nevus +HP:0003764 naevus +HP:0003764 naevi +HP:0003765 psoriasis +HP:0003765 dermatitis psoriasiform +HP:0003760 contractions induced muscle percussion rapid rolling +HP:0003761 body buildup calcium soft tissues +HP:0003761 calcinosis +HP:0003762 double uterus +HP:0003762 didelphys uterus +HP:0003763 bruxism +HP:0003763 grinding teeth +HP:0003768 episodic paralysis +HP:0003768 paralysis periodic +HP:0001946 bodies high ketone levels +HP:0001946 ketosis +HP:0001947 acidosis renal tubular +HP:0001947 accumulation acid body due kidney problem to +HP:0001944 dehydration +HP:0001945 hyperthermia +HP:0001945 fever +HP:0001945 pyrexia +HP:0001942 acidosis metabolic +HP:0001943 hypoglycaemia +HP:0001943 hypoglycemia +HP:0001943 blood low sugar +HP:0001941 acidosis +HP:0001941 acidemia +HP:0001948 alkalosis +HP:0001949 alkalosis hypokalemic +HP:0010777 bronchomegaly +HP:0010776 tracheobronchmegaly +HP:0000099 glomerular nephritis +HP:0000099 glomerulonephritis +HP:0000098 body height increased +HP:0000098 growth increased linear +HP:0000098 accelerated growth linear +HP:0000098 stature tall +HP:0010773 anomalous partial pulmonary return venous +HP:0010773 anomalous connection partial pulmonary venous +HP:0010772 anomalous pulmonary return venous +HP:0010771 fistula sacrococcygeal +HP:0010771 abscess pilonidal +HP:0010770 fistula pilonidal +HP:0000093 protein urine +HP:0000093 high levels protein urine +HP:0000093 proteinuria +HP:0000092 atrophy tubular +HP:0000092 atrophy cell renal tubular +HP:0000091 abnormality renal tubule +HP:0000090 nephronophthisis +HP:0000090 juvenile nephronophthisis +HP:0000097 focal glomerulosclerosis segmental +HP:0000097 focal glomerular sclerosis segmental +HP:0000097 focal glomerulosclerosis +HP:0000096 fibrosis glomerular renal +HP:0000096 glomerulosclerosis +HP:0000095 abnormality glomerulus morphology renal +HP:0010778 tracheomegaly +HP:0009523 2nd epiphysis finger middle phalanx triangular +HP:0009523 bone end finger index middle part triangular +HP:0004804 anemia haemolytic +HP:0004804 anemia hemolytic +HP:0004804 anemia hemolytic neonatal +HP:0003487 babinski sign +HP:0003487 extensor plantar responses +HP:0003487 extensor plantar reflexes +HP:0003487 extensor plantar response +HP:0009525 2nd bracket epiphysis finger phalanx proximal +HP:0009525 bracket epiphyses finger index phalanx proximal +HP:0009525 bone bracket end finger index innermost long part shaped +HP:0004454 abnormal ear middle reflexes +HP:0009526 2nd cone epiphysis finger phalanx proximal shaped +HP:0009526 bone cone end finger index innermost long part shaped +HP:0009526 cone epiphysis finger index phalanx proximal shaped +HP:0003481 demyelination peripheral remyelination segmental +HP:0003481 demyelination remyelination segmental +HP:0009527 2nd enlarged epiphysis finger phalanx proximal +HP:0009527 epiphysis finger index large phalanx proximal +HP:0009527 bone end enlarged finger index innermost long part +HP:0009172 4th abnormal bones finger +HP:0009172 4th abnormal finger morphology phalanx +HP:0009172 abnormality finger phalanges ring +HP:0004808 acute leukemia myeloblastic +HP:0004808 acute leukemia myeloid +HP:0004808 acute leukemia myelogenous +HP:0004808 acute leukemia myelocytic +HP:0004451 fibroepithelial polyp postauricular +HP:0004451 behind ear skin tag +HP:0004451 postauricular skin tag +HP:0004451 acrochordon postauricular +HP:0004809 alloimmune neonatal thrombocytopenia +HP:0003482 abnormality axonal emg +HP:0005357 b cell defective differentiation +HP:0002495 impaired sensation vibratory +HP:0002495 impaired sense vibratory +HP:0002495 decreased sense vibration +HP:0002495 diminished sense vibratory +HP:0002495 decreased sense vibratory +HP:0002494 abnormal eye movement rapid sleep +HP:0002494 abnormal rem sleep +HP:0002497 ataxia spastic +HP:0002491 facial muscles spasticity +HP:0002491 facial increased muscles tone +HP:0002491 facial increased muscles stiffness +HP:0002490 cerebrospinal fluid increased lactate +HP:0002490 csf increased lactate +HP:0002490 acid csf increased lactic +HP:0002493 corticospinal dysfunction tract +HP:0002493 dysfunction motor neuron upper +HP:0002493 dysfunction pyramidal tract +HP:0002492 abnormality corticospinal tract +HP:0002492 corticospinal involvement pathways +HP:0410070 increased level ribitol urine +HP:0410071 csf increased level ribitol +HP:0410071 cerebrospinal fluid increased level ribitol +HP:0410072 increased level ribose urine +HP:0410073 cerebrospinal fluid increased level ribose +HP:0410073 csf increased level ribose +HP:0410074 increased level urine xylitol +HP:0410075 csf increased level xylitol +HP:0410075 cerebrospinal fluid increased level xylitol +HP:0005857 bifida cervical spina +HP:0004268 hand joints osteoarthritis small +HP:0011137 hives itchy non +HP:0011137 non pruritic urticaria +HP:0011134 fever mild +HP:0011134 fever grade low +HP:0011135 absent glands sweat underdeveloped +HP:0011135 absent glands small sweat +HP:0011135 aplasia glands hypoplasia sweat +HP:0011132 chronic furunculosis +HP:0011133 increased ionising radiation sensitivity to +HP:0011133 increased ionizing radiation sensitivity to +HP:0011130 abnormality calyx morphology renal +HP:0011131 perianal rash +HP:0003540 aggregation deficient platelet +HP:0003540 aggregation defect platelet +HP:0003540 aggregation defective platelet +HP:0003540 aggregation impaired platelet +HP:0004261 bone broad hamate +HP:0004261 bone unciform wide +HP:0004261 bone hamate wide +HP:0003542 increased pyruvate serum +HP:0003542 acid increased pyruvic serum +HP:0004263 bone capitate large +HP:0004264 angles carpal decreased joint +HP:0004264 carpal joint narrow spaces +HP:0011429 fetal humerus length short +HP:0011429 arm bone fetal length long short upper +HP:0003546 exercise intolerance +HP:0003546 exercise poor tolerance +HP:0003547 shoulder weakness +HP:0003547 muscles shoulder weak +HP:0003547 girdle muscle shoulder weakness +HP:0003547 girdle shoulder weakness +HP:0002639 budd chiari syndrome +HP:0002638 superficial thrombophlebitis +HP:0009852 broad hand phalanges proximal +HP:0009852 bones broad finger hand innermost +HP:0009852 bones finger hand innermost wide +HP:0009853 bones bullet finger hand innermost shaped +HP:0009853 bullet hand phalanges proximal shaped +HP:0009854 curved hand phalanges proximal +HP:0009854 bones curved finger hand innermost +HP:0009855 defects hand osteolytic phalanges proximal +HP:0009855 osteolysis phalanges proximal +HP:0002149 hyperuricemia +HP:0002149 hyperuricaemia +HP:0002149 acid blood high level uric +HP:0002148 blood level low phosphate +HP:0002148 hypophosphataemia +HP:0002148 hypophosphatemia +HP:0009858 hand phalanges proximal shaped triangular +HP:0009858 bone finger innermost shaped triangular +HP:0002630 fat malabsorption +HP:0002633 blood inflammation vessel +HP:0002633 angiitis +HP:0002633 vasculitis +HP:0002144 dysraphism occult spinal +HP:0002144 cord tethered +HP:0002143 cord disease spinal +HP:0002143 abnormality cord spinal +HP:0002143 cord pathology spinal +HP:0002634 artery hardened wall +HP:0002634 arteriosclerosis +HP:0002141 abnormality equilibrium +HP:0002141 gait imbalance +HP:0002141 imbalanced walk +HP:0002141 abnormality balance +HP:0002140 ischemic stroke +HP:0030791 abnormal jaw morphology +HP:0030790 abnormal cerumen colour +HP:0030790 abnormal cerumen pigmentation +HP:0030790 abnormal cerumen color +HP:0100542 abnormal kidney localization +HP:0100542 abnormal kidneys localisation +HP:0007516 extra fingers on skin +HP:0007516 fingers on redundant skin +HP:0007515 hypoplastic pilosebaceous units +HP:0007514 dorsum edema hands +HP:0007514 dorsum edema feet hands +HP:0100546 artery carotid narrowing +HP:0100546 carotid stenosis +HP:0100546 artery carotid stenosis +HP:0008724 ovary underdeveloped +HP:0008724 hypoplastic ovary +HP:0008724 hypoplasia ovary +HP:0100544 heart neoplasm +HP:0100544 cardiac neoplasia +HP:0100544 cardiac neoplasm +HP:0100544 heart tumor +HP:0100545 arterial stenosis +HP:0100545 an artery narrowing +HP:0008729 absent lips vaginal +HP:0008729 absence labia majora +HP:0007048 basal ganglia large +HP:0100548 exstrophy +HP:0007519 below fatty lack skin tissue +HP:0007519 fatty lack subcutaneous tissue +HP:0006263 abnormality bone end finger index part +HP:0006263 2nd abnormality epiphyses finger +HP:0032139 isohemagglutinin level reduced +HP:0032138 circulating decreased igg4 level +HP:0032131 cervical dysplasia +HP:0032130 abscessus infection mycobacterium +HP:0032133 circulating decreased igg total transient +HP:0032132 circulating decreased igg total +HP:0032135 circulating decreased igg level subclass +HP:0032134 chronic circulating decreased igg total +HP:0032137 circulating decreased igg3 level +HP:0032136 circulating decreased igg1 level +HP:0005352 cell immunodeficiency severe t +HP:0008890 dwarfism limb severe short +HP:0008897 deceleration growth postnatal +HP:0008897 as children growth retardation +HP:0008897 deficiency growth postnatal +HP:0008897 growth postnatal retardation +HP:0008897 as children delay growth +HP:0008897 failure growth postnatal +HP:0100094 4th abnormality distal epiphysis phalanx toe +HP:0100094 4th abnormality bone end outermost part toe +HP:0100095 4th abnormality epiphysis middle phalanx toe +HP:0100095 4th abnormality bone end middle part toe +HP:0100096 4th abnormality bone end innermost part toe +HP:0100096 4th abnormality epiphysis phalanx proximal toe +HP:0100097 abnormality bone end little outermost part toe +HP:0100097 abnormality bone end outermost part pinky toe +HP:0100097 abnormality bone end outermost part pinkie toe +HP:0100097 5th abnormality distal epiphysis phalanx toe +HP:0100090 2nd abnormality epiphysis phalanx proximal toe +HP:0100090 2nd abnormality bone end innermost part toe +HP:0100091 3rd abnormality distal epiphysis phalanx toe +HP:0100091 3rd abnormality bone end outermost part toe +HP:0025278 cold induced sweating +HP:0100093 3rd abnormality epiphysis phalanx proximal toe +HP:0100093 3rd abnormality bone end innermost part toe +HP:0025276 abnormality adnexa physiology skin +HP:0025277 gustatory sweating +HP:0025274 cyst dermoid ovarian +HP:0025274 cystic mature ovarian teratoma +HP:0100098 abnormality bone end middle part pinky toe +HP:0100098 5th abnormality epiphysis middle phalanx toe +HP:0100098 abnormality bone end middle part pinkie toe +HP:0100098 abnormality bone end little middle part toe +HP:0100099 abnormality bone end innermost little part toe +HP:0100099 5th abnormality epiphysis phalanx proximal toe +HP:0100099 abnormality bone end innermost part pinkie toe +HP:0100099 abnormality bone end innermost part pinky toe +HP:0025270 abnormality esophagus functional +HP:0025270 abnormality esophagus physiology +HP:0025271 esophageal spasms +HP:0003444 chronic denervation emg signs +HP:0012768 asphyxia neonatal +HP:0012768 asphyxia neonatorum +HP:0012769 abnormal arm span +HP:0012762 atrophy cerebral matter white +HP:0012763 dyspnea paroxysmal +HP:0012760 impaired reciprocity social +HP:0012761 absent mastoid +HP:0012761 agenesis mastoid +HP:0012761 development failure mastoid +HP:0012761 absent mastoids +HP:0012766 cerebral space subarachnoid widened +HP:0012767 abnormal placental size +HP:0012764 orthopnea +HP:0012765 cerebellar space subarachnoid widened +HP:0025092 acanthotic epidermis +HP:0025092 acanthosis +HP:0025092 acanthosis epidermal +HP:0025093 exudation peripapillary +HP:0025093 exudate peripapillary +HP:0025090 abnormal intestinal large morphology mucosa +HP:0025096 paroxysmal sneezing +HP:0025097 eyelid myoclonia +HP:0025097 eyelid myoclonus +HP:0025097 blepharoclonus +HP:0025094 disciform macular scar +HP:0025095 sneeze +HP:0025098 dysgenesis hypothalamic +HP:0025098 dysgenesis hypothalamus +HP:0025099 dysgenesis thalamus +HP:0025099 dysgenesis thalamic +HP:0006644 dysplasia thoracic +HP:0006397 displacement lateral patellae +HP:0006394 forearm limited pronation supination +HP:0006647 microthorax +HP:0006392 bones density increased long +HP:0006641 floating prominent ribs +HP:0006390 anterior bowing tibia +HP:0006390 anterior bowing tibial +HP:0006391 bones long overtubulated +HP:0006649 costochondral junction pain +HP:0006649 costochondral pain +HP:0006398 end flat outermost part thighbone +HP:0006398 distal epiphyses femoral flattened +HP:0006398 distal epiphysis femoral flat +HP:0006028 bone cupping hand long portion wide +HP:0006028 cupping metacarpals metaphyseal +HP:0006028 cupping metacarpal metaphyseal +HP:0031607 organ pelvic prolapse +HP:0031604 agenesis canal carotid +HP:0031604 agenesis bony canal carotid +HP:0031605 abnormality fundus pigmentation +HP:0031602 abnormal mucociliary transport +HP:0031602 abnormal clearance mucociliary +HP:0031603 abnormal saccharine test +HP:0031603 clearance impaired mucociliary nasal +HP:0031600 inversion p wave +HP:0200104 absent fifth fingernail +HP:0200104 absent fifth finger nail +HP:0200109 absent arms dynein outer shortened +HP:0200109 absent arms cilia dynein have or outer respiratory shortened +HP:0200108 arms dynein outer shortened +HP:0006026 bone end part rounded +HP:0006026 epiphyses rounded +HP:0031609 atrophy geographic +HP:0012454 contracture flexion unilateral wrist +HP:0012454 contracture unilateral wrist +HP:0030793 jaw swelling +HP:0000399 hearing impairment prelingual sensorineural +HP:0000399 deafness prelingual sensorineural +HP:0000391 helices thickened +HP:0000391 helix thick +HP:0000394 ear lop +HP:0000395 antihelix prominent +HP:0000396 helix overfolded +HP:0000396 folded helices over +HP:0000396 helices overfolded +HP:0000396 ears overfolded +HP:0031276 obstructive shock +HP:0031275 distributive shock +HP:0031274 hypovolemic shock +HP:0031273 shock +HP:0031272 arterial atherosclerosis pulmonary +HP:0031271 absent ankle pulse +HP:0031270 activation cd25 poor tcr upon upregulation +HP:0031270 activation il2ra reduced tcr upon upregulation +HP:0031270 activation cd25 decreased tcr upon upregulation +HP:0011695 cerebellar hemorrhage +HP:0031279 abnormal gnrh response stimulation test to +HP:0031279 abnormal gonadotropin hormone releasing response stimulation test to +HP:0031278 abnormal duct morphology thoracic +HP:0011694 a accessory manifest pathway supraventricular tachycardia with +HP:0004729 acute nephritis tubulointerstitial +HP:0004898 acidosis lactic persistent +HP:0004897 acidosis induced infection lactic stress +HP:0004724 calcium kidney stone +HP:0004724 calcium nephrolithiasis +HP:0004727 ability concentrating impaired renal +HP:0004727 concentration defect urine +HP:0004727 concentrating defect urine +HP:0004894 laryngotracheal stenosis +HP:0004891 aspiration due infections recurrent to +HP:0004722 basement glomerular membrane thickening +HP:0030898 abdomen on pruritis +HP:0001558 10 12 fetal hours less movements than +HP:0001558 decreased fetal movement +HP:0001558 fetal movement reduced +HP:0001558 decreased fetal movements +HP:0001558 fetal movements reduced +HP:0001558 fetal hypokinesia +HP:0001558 activity decreased fetal +HP:0001558 decreased movement utero +HP:0011691 a accessory concealed free left on pathway supraventricular tachycardia wall with +HP:0001551 abnormal umbilicus +HP:0001551 abnormality umbilicus +HP:0001551 abnormal belly button +HP:0001551 abnormal navel +HP:0030891 cerebral hyperdensities matter periventricular white +HP:0030891 pvwmh +HP:0030891 hyperdensities matter periventricular white +HP:0030891 hyperintensities matter periventricular white +HP:0030892 cerebral deep hyperdensities matter white +HP:0030892 deep hyperintensities matter white +HP:0001552 barrel chest shaped +HP:0001552 barrel chest +HP:0001555 asymmetric chest +HP:0001555 asymmetry thorax +HP:0030895 abnormal gastrointestinal motility +HP:0001557 abnormality movement prenatal +HP:0001557 abnormal intrauterine movements +HP:0030897 decreased intestinal time transit +HP:0000178 lip lower malformation +HP:0000178 anomaly lip lower +HP:0000178 deformity lip lower +HP:0000178 abnormality lip lower +HP:0000179 height increased lip lower vermilion +HP:0000179 full lip lower +HP:0000179 full lip lower vermilion +HP:0000179 lip lower prominent +HP:0000179 lip lower plump +HP:0000179 lip lower prominent vermilion +HP:0000179 lip lower thick +HP:0000179 border lip lower thick vermilion +HP:0000179 lip lower thick vermilion +HP:0000179 lip lower part red thick +HP:0000179 increased lip lower vermilion volume +HP:0000179 increased lip lower volume +HP:0000174 anomaly palatal +HP:0000174 abnormality mouth roof +HP:0000174 abnormal morphology palate +HP:0000174 abnormality palate +HP:0005415 cd8 cells decreased proportion t +HP:0005415 cd8 cell lymphopenia t +HP:0005415 cd8 cells decreased positive proportion t +HP:0000176 clefting submucous +HP:0000176 cleft hard palate submucous +HP:0000176 cleft palate submucosal +HP:0000176 cleft hard palate partial thickness +HP:0000177 lip malformation upper +HP:0000177 anomaly lip upper +HP:0000177 deformity lip upper +HP:0000177 abnormality lip upper +HP:0000171 microglossia +HP:0000171 hypoglossia +HP:0000171 small tongue +HP:0000171 decreased size tongue +HP:0000171 rudimentary tongue +HP:0000171 hypoplasia lingual +HP:0000171 abnormally small tongue +HP:0000171 hypoplasia tongue +HP:0000171 hypoplastic tongue +HP:0000171 tongue underdevelopment +HP:0000172 abnormality uvula +HP:0000172 abnormality palatine uvula +HP:0005413 alpha globulin increased +HP:0011309 tapered toe +HP:0011309 tapering toes +HP:0011308 narrow toe +HP:0011308 slender toe +HP:0011305 absence partial toe +HP:0011305 hypophalangy toes +HP:0011304 broad phalanges thumb wide +HP:0011304 broad thumb wide +HP:0011304 broad thumbs +HP:0011304 broad phalanges thumb +HP:0011304 broad thumb +HP:0011307 splayed toes +HP:0011301 aplasia foot +HP:0011301 absent foot +HP:0011301 apodia +HP:0011300 broad fingertip +HP:0011300 broad fingertips +HP:0011303 contour convex sole +HP:0011302 long palm +HP:0004097 deviated fingers +HP:0004097 deviation finger +HP:0004097 atypical finger position +HP:0004095 curved fingers +HP:0000138 cystic ovaries +HP:0000138 abnormality cystic ovarian +HP:0000138 abnormalities cystic ovaries +HP:0000138 cyst ovarian +HP:0004099 megalodactyly +HP:0004099 macrodactyly +HP:0004099 finger overgrowth +HP:0025239 heme subhyaloid +HP:0025239 hemorrhage subhyaloid +HP:0031853 isomerism +HP:0031851 hematocrit reduced +HP:0031851 hematocrit low +HP:0031850 abnormal hematocrit +HP:0031857 esophageal ineffective peristalsis +HP:0031856 gait hobby horse +HP:0031855 isomerism right +HP:0031855 isomerism right sided +HP:0031854 isomerism left sided +HP:0031854 isomerism left +HP:0031858 esophageal furrows +HP:0003557 fiber increased muscle size variation +HP:0003557 diameter fiber increased muscle variability +HP:0003557 fiber increased size variation +HP:0003557 fiber increased muscle size variability +HP:0003557 fiber muscle size variation +HP:0011697 a accessory free manifest on pathway right supraventricular tachycardia wall with +HP:0003153 cystathionine high levels urine +HP:0003153 cystathioninuria +HP:0003152 calcitriol increased serum +HP:0003152 1 25 d3 dihydroxyvitamin increased serum +HP:0003150 glutarate increased level urine +HP:0003150 glutaricaciduria +HP:0003150 aciduria glutaric +HP:0003150 aciduria glutarate +HP:0003155 alkaline elevated phosphatase +HP:0003155 hyperphosphatasemia +HP:0003155 alkaline high phosphatase serum +HP:0003155 alkaline increased phosphatase +HP:0003155 hyperphosphatasia +HP:0003155 alkaline elevated greatly phosphatase +HP:0003155 alkaline increased phosphatase serum +HP:0003154 blood corticotropin high levels +HP:0003154 acth circulating increased level +HP:0003154 acth increased plasma +HP:0003159 increased level oxalate urine +HP:0003159 high levels oxalate urine +HP:0003159 hyperoxaluria +HP:0003158 osmolality reduced urinary +HP:0003158 hyposthenuria +HP:0025407 fistula rectourethral +HP:0025407 fistula urethrorectal +HP:0003225 deficiency factor v +HP:0003225 activity coagulation factor reduced v +HP:0003225 activity factor reduced v +HP:0025400 hrct nodular on pattern pulmonary random +HP:0002825 human tail +HP:0002825 coccygeal tail +HP:0002825 appendage caudal +HP:0002826 bone halberd pelvis shaped +HP:0002826 halberd pelvis shaped +HP:0002827 dislocation hip +HP:0002827 dislocated hips +HP:0010438 abnormal interventricular morphology septum +HP:0010438 abnormal morphology septum ventricular +HP:0010438 abnormality septum ventricular +HP:0002821 arthropathy charcot +HP:0002821 arthropathy neuropathic +HP:0002821 charcot joint +HP:0002822 femoral hyperplasia trochanters +HP:0002822 femoral hyperplastic trochanters +HP:0002823 abnormality femur morphology +HP:0002823 abnormality femora +HP:0002823 abnormality thighbone +HP:0010434 2nd absent bone middle toe +HP:0010434 2nd aplasia middle phalanx toe +HP:0010435 2nd bone middle short toe +HP:0010435 2nd hypoplastic middle phalanx small toe +HP:0010435 middle phalanx second short toe +HP:0010435 2nd middle phalanx short toe +HP:0010436 2nd absent bone innermost toe +HP:0010436 2nd aplasia phalanx proximal toe +HP:0010437 phalanx proximal second short toe +HP:0010437 2nd phalanx proximal short toe +HP:0010437 2nd bone innermost short toe +HP:0010437 2nd hypoplastic phalanx proximal small toe +HP:0002828 contractures joint multiple +HP:0002829 arthralgia +HP:0002829 arthritic pain +HP:0002829 joint pains +HP:0002829 joint pain +HP:0002829 arthralgias +HP:0010432 absent distal phalanx second toe +HP:0010432 2nd absent bone outermost toe +HP:0010432 2nd absent distal phalanx toe +HP:0010432 2nd aplasia distal phalanx toe +HP:0010433 2nd bone outermost short toe +HP:0010433 distal phalanx second short toe +HP:0010433 2nd distal hypoplastic phalanx small toe +HP:0010433 2nd distal phalanx short toe +HP:0004459 auditory canal exostosis external +HP:0004459 auditory canal exostoses external +HP:0005238 discrete intestinal polyps +HP:0011693 a accessory concealed on pathway septum supraventricular tachycardia with +HP:0001818 paronychia +HP:0031479 annulus dilatation mitral +HP:0031478 abnormal annulus mitral morphology valve +HP:0031475 epilepticus nonconvulsive status +HP:0031474 chondroma pulmonary +HP:0031476 abnormal buccal cell morphology mucosa +HP:0031473 hostility +HP:0031472 risk taking +HP:0006257 abnormality bone carpal ossification +HP:0006257 abnormal ankle bone maturation +HP:0006256 abnormality hand joint mobility +HP:0006254 alpha fetoprotein increased serum +HP:0006254 alpha fetoprotein increased levels +HP:0006254 abnormal alpha fetoprotein +HP:0006254 alpha elevated fetoprotein +HP:0006253 interphalangeal joints proximal swelling +HP:0006253 hinge innermost joints swelling +HP:0006252 erosions interphalangeal joint +HP:0006251 extension limited wrist +HP:0012008 auras illusory +HP:0001810 formation poor toenail +HP:0001810 dystrophic toenail +HP:0001810 changes dystrophic toenail +HP:0001810 dystrophic toenails +HP:0012151 hemothorax +HP:0012150 lineage myelodysplasia single +HP:0012153 hypotriglyceridemia +HP:0012153 circulating decreased levels tg +HP:0012153 blood levels low triglyceride +HP:0012153 decreased levels plasma tg +HP:0012152 foveoschisis +HP:0012152 fovea involving retinoschisis +HP:0012155 corneal hypaesthesia +HP:0012155 corneal reduced sensation +HP:0012155 corneal decreased sensitivity +HP:0012155 corneal hypesthesia +HP:0012155 corneal decreased sensation +HP:0012154 anhedonia +HP:0012157 atrophy cerebral subcortical +HP:0012156 hemophagocytosis +HP:0012159 artery carotid dissection internal +HP:0012158 artery carotid dissection +HP:0045025 between eyelids opening small +HP:0045025 eyelid narrow opening +HP:0045025 decreased fissure palpebral size +HP:0045025 fissures palpebral small +HP:0045025 fissures narrow palpebral +HP:0045025 fissure narrow palpebral +HP:0011690 junctional permanent reciprocating tachycardia +HP:0045027 abnormality cavity thoracic +HP:0045026 abnormality mediastinum +HP:0045029 eosinophilic fasciitis +HP:0045028 3 lissencephaly type +HP:0045028 iii lissencephaly type +HP:0009353 3rd finger phalanx proximal pseudoepiphysis +HP:0009629 aplasia hypoplasia phalanx proximal thumb +HP:0009629 absent bone innermost small thumb +HP:0009629 absent bone innermost thumb underdeveloped +HP:0009626 contractures extension interphalangeal thumbs +HP:0009626 contractures interphalangeal joint thumb +HP:0009625 contractures joint metacarpophalangeal thumb +HP:0009624 carpometacarpal contractures joint thumb +HP:0009623 implantation low thumb +HP:0009623 placement proximal thumb +HP:0009623 attachment close thumb to wrist +HP:0009623 placed proximally thumbs +HP:0009622 distally placed thumb +HP:0030078 adenocarcinoma lung +HP:0012488 arachnoid cyst intraventricular +HP:0012483 abnormal alpha granules +HP:0012482 angioma frontal venous +HP:0012481 anomaly developmental venous +HP:0012481 angioma cerebral venous +HP:0012480 abnormality cerebral veins +HP:0012487 angle arachnoid cerebellopontine cyst +HP:0030077 bronchial neoplasm +HP:0012485 abnormal canalicular connected open surface system +HP:0012484 abnormal dense granules +HP:0012375 chemosis +HP:0100378 3rd absent distal phalanx toe +HP:0100378 absent distal phalanx third toe +HP:0100378 3rd aplasia distal phalanx toe +HP:0100378 3rd absent bone outermost toe +HP:0007700 anterior dysgenesis ocular segment +HP:0007700 anterior chamber malformation +HP:0007700 anterior chamber cleavage defect +HP:0007700 abnormality anterior developmental segment +HP:0007700 anterior dysgenesis segment +HP:0007700 anterior dysgenesis mesencyhmal segment +HP:0007700 anterior chamber cleavage disorder +HP:0007700 anomalies anterior chamber mesodermal +HP:0012376 lens small +HP:0012376 microphakia +HP:0008978 myopathy necrotizing +HP:0007707 aphakia +HP:0007707 agenesis lens +HP:0007704 abnormal eye movements paroxysmal +HP:0007704 eye involuntary movements paroxysmal +HP:0007705 corneal degeneration +HP:0100371 5th aplasia distal hypoplasia phalanx toe +HP:0100371 absent bone outermost pinkie small toe +HP:0100371 absent bone outermost pinky toe underdeveloped +HP:0100371 absent bone little outermost small toe +HP:0100371 absent bone outermost pinky small toe +HP:0100370 4th aplasia distal hypoplasia phalanx toe +HP:0100370 4th absent bone outermost small toe +HP:0100370 4th absent bone outermost toe underdeveloped +HP:0007256 abnormal pyramidal sign +HP:0007256 pyramidal signs +HP:0007256 pyramidal signs tract +HP:0007256 corticospinal signs +HP:0100372 3rd absent bone middle small toe +HP:0100372 3rd aplasia hypoplasia middle phalanx toe +HP:0100372 3rd absent bone middle toe underdeveloped +HP:0007250 external ophthalmoplegia recurrent +HP:0012378 malaise +HP:0012378 fatigue +HP:0012378 tiredness +HP:0012378 tired +HP:0008972 activity complexes decreased mitochondrial respiratory +HP:0008972 activity chain decreased mitochondrial respiratory +HP:0008972 activities chain complexes decreased encoded mitochondrial respiratory +HP:0100376 4th aplasia hypoplasia phalanx proximal toe +HP:0100376 4th absent bone innermost toe underdeveloped +HP:0100376 4th absent bone innermost small toe +HP:0009306 bone finger outermost ring shaped triangular +HP:0009306 4th distal finger phalanx shaped triangular +HP:0001704 prolapse tricuspid valve +HP:0001705 obstruction outlet right ventricular +HP:0001705 obstruction outlet right tract ventricular +HP:0001706 endocardial fibroelastosis +HP:0001707 abnormality right ventricular +HP:0001707 abnormality right ventricle +HP:0001707 abnormal morphology right ventricle +HP:0001700 myocardial necrosis +HP:0001701 pericarditis +HP:0001701 around heart irritation membrane or swelling +HP:0001702 abnormality tricuspid valve +HP:0001702 abnormal morphology tricuspid valve +HP:0005312 aterial fibrosis intimal pulmonary +HP:0001708 failure heart right sided +HP:0001708 impairment right ventricular +HP:0001708 function impaired right ventricular +HP:0001708 failure right ventricular +HP:0001709 block complete heart +HP:0001709 block degree heart third +HP:0001709 atrioventricular block degree third +HP:0002060 abnormality cerebrum +HP:0002060 abnormality telencephalon +HP:0005310 large vasculitis vessel +HP:0002061 limb lower spasticity +HP:0005317 increased pulmonary resistance vascular +HP:0002062 disease pyramidal tract +HP:0002062 abnormality morphological pyramidal tract +HP:0002062 abnormality pyramidal tracts +HP:0005316 aplasia peripheral pulmonary vessel +HP:0002063 rigidity +HP:0002063 muscle rigidity +HP:0002064 gait spastic +HP:0002064 spastic walk +HP:0005314 anomalous artery branches carotid internal +HP:0030409 carcinoma renal urothelial +HP:0030409 carcinoma cell renal transitional +HP:0030409 renal tcc +HP:0030408 pinealoblastoma +HP:0030408 pineoblastoma +HP:0002066 ataxia gait +HP:0002066 ataxic gait +HP:0002066 coordinate inability movements to walking when +HP:0030403 aggregation platelet spontaneous +HP:0030402 abnormal aggregation platelet +HP:0030401 abnormal adp atp dense granule platelet ratio +HP:0030400 abnormal lysosome platelet secretion +HP:0030407 pineocytoma +HP:0030406 carcinoma peritoneal primary +HP:0030405 endocrine pancreatic tumor +HP:0030404 glucagonoma +HP:0000137 abnormality ovaries +HP:0000137 disease ovarian +HP:0000137 abnormality ovary +HP:0200120 active chronic hepatitis +HP:0003533 acetaldehyde delayed oxidation +HP:0200123 chronic hepatitis +HP:0200123 chronic inflammation liver +HP:0004376 neuroblastic tumors +HP:0031667 holosystolic murmur +HP:0040019 curvature finger +HP:0040019 clinodactyly finger +HP:0040018 clinodactyly hallux +HP:0040018 big curvature toe +HP:0040017 protruding tailbone +HP:0040017 coccyx protruding +HP:0040016 prominent tailbone +HP:0040016 coccyx prominent +HP:0040015 activity chain increased mitochondrial respiratory +HP:0040014 increased mitochondrial number +HP:0040013 decreased mitochondrial number +HP:0003414 atlanto axial subluxation +HP:0003414 atlantoaxial subluxation +HP:0003414 atlantoaxial dislocation +HP:0040011 flat fossa posterior +HP:0040010 fossa posterior small +HP:0012891 hairline high posterior +HP:0012891 at back hairline head high +HP:0031999 crackles expiratory +HP:0200127 atrial cardiomyopathy +HP:0004373 dystonia focal +HP:0010803 everted lip upper vermilion +HP:0010803 everted lip upper +HP:0010803 drooping lip upper +HP:0010803 lip protruding upper +HP:0010803 lip outward turned upper +HP:0010803 eclabium lip upper +HP:0010803 everted lip prominent upper +HP:0005442 coronal patent suture widely +HP:0005623 absent calvaria ossification +HP:0005623 absent ossification skull vault +HP:0005623 absent bone maturation skullcap +HP:0005622 bones long widened +HP:0005622 bones broad long +HP:0005622 bones long wide +HP:0005621 bodies shaped trapezoidal vertebral +HP:0005620 hinge increased joints mobility +HP:0005620 hypermobility interphalangeal joints +HP:0005627 brachydactyly d type +HP:0005626 fusion lumbosacral posterior vertebrae +HP:0005625 osteoporosis vertebrae +HP:0031992 apical cardiomyopathy hypertrophic +HP:0031993 hoffmann sign +HP:0031990 chvostek sign +HP:0001969 nephropathy tubulointerstitial +HP:0001969 abnormality tubulointerstitial +HP:0031991 excretion galactosyl hydroxylysine increased urinary +HP:0007651 everted eyelids lower +HP:0007651 eyelid folded lower out +HP:0007651 ectropion eyelids lower +HP:0007651 eyelid lower out turned +HP:0001960 alkalosis hypokalemic metabolic +HP:0001961 heart small +HP:0001961 heart underdeveloped +HP:0001961 heart hypoplastic +HP:0001962 beat heart missed +HP:0001962 palpitations +HP:0001962 heart palpitations +HP:0001962 beat heart skipped +HP:0001963 abnormal discrimination speech +HP:0001963 discrimination poor speech +HP:0001964 absent hypoplastic metatarsals +HP:0001964 absent bone foot long small +HP:0001964 absent hypoplastic metatarsal or +HP:0001964 aplastic hypoplastic metatarsals +HP:0001964 aplasia bones hypoplasia metatarsal +HP:0001964 absent bone foot long underdeveloped +HP:0001964 absent hypoplastic metacarpals +HP:0001965 anomaly scalp +HP:0001965 abnormality scalp +HP:0001966 abnormality mesangial +HP:0001967 mesangial sclerosis +HP:0001967 diffuse mesangial sclerosis +HP:0001967 diffuse glomerulopathy mesangial sclerosis +HP:0004378 abnormality anus +HP:0008606 pit supraauricular +HP:0008606 above ear pit +HP:0008606 sinuses supraauricular +HP:0008606 sinus supraauricular +HP:0008606 fistula supraauricular +HP:0003419 back low pain +HP:0003419 back lower pain +HP:0008607 conductive hearing impairment progressive +HP:0008607 conductive deafness progressive +HP:0009198 abnormality epiphysis finger little phalanx terminal +HP:0009198 5th abnormality distal epiphysis finger phalanx +HP:0009198 abnormality bone end finger innermost part pinkie +HP:0009198 abnormality bone end finger innermost part pinky +HP:0009198 abnormality bone end finger innermost little part +HP:0100144 3rd bone calcifications end outermost part speckled toe +HP:0100144 3rd distal epiphysis phalanx stippling toe +HP:0008608 auricular cartilage hypertrophic +HP:0008057 affecting aplasia fundus hypoplasia +HP:0008057 absent fundus small +HP:0007129 cerebellar medulloblastoma +HP:0008056 absent eye underdeveloped +HP:0008056 absent eye small +HP:0008056 affecting aplasia eye hypoplasia +HP:0008055 affecting aplasia hypoplasia uvea +HP:0008055 absent underdeveloped uvea +HP:0008054 abnormal conjunctiva morphology vasculature +HP:0008054 abnormality conjunctiva vasculature +HP:0008053 absent iris underdeveloped +HP:0008053 absent iris small +HP:0008053 aplasia hypoplasia iris +HP:0030792 jaw neoplasm +HP:0008052 folds retinal +HP:0008052 fold retinal +HP:0008372 a abnormality metabolism vitamin +HP:0008373 disorders gonadal puberty +HP:0008371 abnormal bones involving metatarsal ossification +HP:0008371 abnormal metatarsal ossification +HP:0008371 abnormal bone foot long maturation +HP:0008376 dysarthic nasal speech +HP:0008376 breathy speech +HP:0003707 calf muscle pseudohypertrophy +HP:0003707 calves pseudohypertrophy +HP:0003704 scapuloperoneal weakness +HP:0003704 neurogenic scapuloperoneal syndrome +HP:0003700 amyotrophy diffuse +HP:0003700 degeneration generalized muscle +HP:0003700 diffuse muscle skeletal wasting +HP:0003700 diffuse muscle wasting +HP:0003700 atrophy diffuse muscle +HP:0003700 atrophy generalized muscle +HP:0003700 amyotrophy generalized +HP:0003700 atrophy generalized muscular +HP:0003701 arms legs muscles upper weakness +HP:0003701 muscle neurogenic proximal weakness +HP:0003701 limb muscle proximal weakness +HP:0003701 muscle proximal weakness +HP:0003701 limb proximal weakness +HP:0000150 gonadoblastoma +HP:0000619 convergence impaired +HP:0000619 convergence insufficiency +HP:0000618 loss total vision +HP:0000618 blindness +HP:0000618 blindness legal +HP:0000610 abnormal choroid morphology +HP:0000610 abnormality choroid +HP:0000610 choroid disease +HP:0000613 hypersensitivity light +HP:0000613 photophobia +HP:0000613 photodysphoria +HP:0000613 extreme eyes light sensitivity to +HP:0000612 coloboma iris +HP:0000612 cat eye +HP:0000612 iris keyhole +HP:0000615 abnormality pupil +HP:0000615 abnormality pupillary +HP:0000615 abnormal morphology pupil +HP:0000615 abnormal morphology pupillary +HP:0000615 abnormalities pupillary +HP:0000614 abnormal morphology nasolacrimal system +HP:0000614 abnormality nasolacrimal system +HP:0000617 impaired movements ocular pursuit smooth +HP:0000617 abnormal pursuits smooth +HP:0000617 irregular movements pursuit visual +HP:0000617 disrupted movements ocular pursuit +HP:0000617 abnormality ocular pursuit smooth +HP:0000616 constricted pupils +HP:0000616 miosis +HP:0000616 constriction pupillary +HP:0011118 abnormality factor necrosis secretion tumor +HP:0011118 abnormality cachectin secretion +HP:0011118 abnormality cachexin secretion +HP:0011119 anomaly nasal ridge +HP:0011119 deformity dorsum nasal +HP:0011119 malformation nasal ridge +HP:0011119 crooked dorsum nasal +HP:0011119 crooked nasal ridge +HP:0011119 abnormality dorsum nose +HP:0011119 abnormality nasal ridge +HP:0011119 abnormality dorsum nasal +HP:0011119 dorsum malformation nose +HP:0011119 deformity nasal ridge +HP:0011119 deformity dorsum nose +HP:0011119 dorsum malformation nasal +HP:0011119 crooked dorsum nose +HP:0011119 abnormal dorsum morphology nose +HP:0011448 abnormal ankle movements rhythmic +HP:0011448 ankle clonus +HP:0011449 clonus patellar +HP:0011449 clonus knee +HP:0011110 inflammation tonsils +HP:0011110 tonsillitis +HP:0011111 abnormality immune physiology protein serum +HP:0011112 abnormality cytokine level serum +HP:0011113 abnormality cytokine secretion +HP:0011114 cytokines defective dependent nfkb1 production +HP:0011115 abnormality chemokine secretion +HP:0011116 abnormality interferon secretion +HP:0011117 abnormality interleukin secretion +HP:0004283 hands narrow +HP:0004283 narrow palm +HP:0004283 hand narrow +HP:0004280 bones hand irregular maturation +HP:0004280 bones hand irregular ossification +HP:0004281 bone bones density hand increased +HP:0004281 bones hand irregular sclerosis +HP:0004286 bone bones density hand increase uneven +HP:0004286 bones hand patchy sclerosis +HP:0003839 abnormal bones end limb long part shape upper +HP:0003839 abnormality epihyseal limbs plate upper +HP:0003839 abnormality epiphyses involving limbs upper +HP:0003839 abnormality epiphysis limb morphology upper +HP:0004284 bones hand notched +HP:0004285 bones hand overmodelled +HP:0003834 dislocation shoulder +HP:0003835 shoulder subluxation +HP:0003835 dislocation partial shoulder +HP:0003836 calcification shoulder stippled +HP:0004289 bones foci hand sclerotic +HP:0003832 abnormality plateaux tibial +HP:0003833 deficient laterally plateaux tibial +HP:0002613 biliary cirrhosis +HP:0002613 biliary cirrhosis primary +HP:0002612 fibrosis hepatic +HP:0002612 at birth buildup connective excessive liver scarring tissue +HP:0002611 cholestatic disease liver +HP:0002617 aneurysms +HP:0002617 aneurysmal disease +HP:0002617 gap opening or than typical wider +HP:0002617 dilatation +HP:0002617 aneurysm +HP:0002617 aneurysmal dilatation +HP:0002616 aneurysm aortic root +HP:0002616 artery away blood bulge carries from heart large root that wall +HP:0002616 aortic dilatation root +HP:0002616 aortic diameter increased root +HP:0002615 blood low pressure +HP:0002615 hypotension +HP:0002615 arterial hypotension +HP:0002614 hepatic necrosis periportal +HP:0002619 varicose veins +HP:0009260 4th distal epiphysis finger phalanx triangular +HP:0009260 4th delta distal epiphysis finger phalanx shaped +HP:0009260 bone end finger outermost part ring triangular +HP:0030241 deltoid hypoplasia muscle +HP:0007069 encephalopathy profound static +HP:0007068 hypoplasia inferior vermis +HP:0030245 during fever labor maternal +HP:0030245 fever intrapartum +HP:0030244 during fever maternal pregnancy +HP:0030244 fever maternal pregnancy +HP:0030247 splanchnic thrombosis vein +HP:0030247 blood clot splanchnic vein +HP:0030246 fever first maternal trimester +HP:0007063 aplasia cerebellar half inferior vermis +HP:0007063 absent cerebellar half inferior vermis +HP:0008702 absent genitalia internal +HP:0007067 distal neuropathy peripheral sensory +HP:0007066 limb muscle proximal stiffness +HP:0007065 anterior cerebellar disorganization vermis +HP:0007064 deterioration language progressive +HP:0100564 triplomyelia +HP:0100564 cord spinal triplication +HP:0100565 hydromyelia +HP:0100566 amyelia +HP:0100566 absent cord spinal +HP:0100560 arms size unequal +HP:0100560 asymmetry limb upper +HP:0100561 cord lesion spinal +HP:0100562 diplomyelia +HP:0100562 cord duplication spinal +HP:0100563 diastomatomyelia +HP:0100568 endocrine neoplasia +HP:0100568 endocrine neoplasm system +HP:0100569 abnormally ossified vertebrae +HP:0100569 abnormal ossification vertebral +HP:0100569 abnormal bone maturation vertebra +HP:0100569 abnormality mineralisation ossification vertebrae +HP:0032112 abnormal chart contrast pelli robson sensitivity test +HP:0032111 abnormal contrast sensitivity test vistech +HP:0032110 contrast reduced sensitivity severely +HP:0032117 macrosaccadic oscillation +HP:0032116 jerks macrosquare wave +HP:0032114 intrusion saccadic +HP:0032119 angle glaucoma narrow +HP:0032118 retinitis +HP:0008278 atrophy cerebellar cortical +HP:0008278 cerebellar cortex degeneration +HP:0030432 chondroblastoma +HP:0030921 1 5 apgar minute score +HP:0005579 chloride impaired reabsorption +HP:0030430 nerve tumor +HP:0030430 neuroma +HP:0030430 nerve pinched +HP:0007376 abnormality choroid plexus +HP:0030431 osteochondroma +HP:0030431 exostoses osteocartilaginous +HP:0030431 osteochondromas +HP:0007398 asymmetric defects linear skin +HP:0007395 ichthyosis onset postnatal +HP:0007395 erythroderma ichthyosiform onset postnatal +HP:0007394 blood prominent superficial vessels +HP:0007394 prominent superficial vasculature +HP:0007397 apocrine axillary gland hypoplasia +HP:0007396 early life occurring sensitivity sun +HP:0007396 cutaneous early photosensitivity +HP:0007390 erythema hyperkeratosis with +HP:0007392 excessive skin wrinkled +HP:0025250 whitehead +HP:0025250 closed comedo +HP:0025251 blackhead +HP:0025251 comedo open +HP:0025252 areata exfoliativa glossitis +HP:0025252 geographic tongue +HP:0025253 claustrophobia +HP:0025526 lesion like psoriatic +HP:0025526 lesion psoriasiform +HP:0025526 erythemato plaque squamous +HP:0025526 erythematosquamous plaque +HP:0025527 eruption serpiginous +HP:0025527 cutaneous lesion serpiginous +HP:0025524 palmoplantar psoriasis +HP:0025524 palmoplantar scaling skin +HP:0025525 fingertip on scaling skin +HP:0025258 neck stiffness +HP:0025258 neck stiff +HP:0025259 elbow stiff +HP:0025259 elbow stiffness +HP:0025528 annular cutaneous lesion +HP:0025529 hyperpigmented nodule +HP:0001289 disorientation mental +HP:0001289 confusion +HP:0001289 confused easily +HP:0001289 disorientation +HP:0001288 disturbance gait +HP:0001288 abnormalities gait +HP:0001288 abnormal gait +HP:0001288 difficulties gait +HP:0001288 disturbances gait +HP:0001288 gait impaired +HP:0001288 abnormal walk +HP:0012748 brainstem focal hyperintense lesion t2 +HP:0012749 brainstem focal hypointense lesion t2 +HP:0012744 absent thighbone +HP:0012744 aplasia femoral +HP:0012744 absent femur +HP:0012744 aplasia femur +HP:0012745 fissure palpebral short +HP:0012745 between eyelids opening short +HP:0012745 decreased fissure height palpebral +HP:0012745 fissures palpebral short +HP:0012746 thin toenail +HP:0012746 thin toenails +HP:0012747 abnormal brainstem intensity mri signal +HP:0012740 papilloma +HP:0012741 cryptorchidism unilateral +HP:0012742 fingernail thin +HP:0012743 central obesity +HP:0012743 abdominal obesity +HP:0031596 abnormal pr segment +HP:0031597 elevation pta +HP:0031597 elevation pr segment +HP:0031597 elevation interval pr +HP:0031594 depression pr segment +HP:0031594 depression interval pr +HP:0031594 depression pta +HP:0031595 abnormal p wave +HP:0031592 inversus levocardia situs with +HP:0031593 abnormal interval pr +HP:0006628 absent ossification sternal +HP:0006628 absent bone maturation sternum +HP:0006628 lack ossification sternal +HP:0006628 absent mineralization sternal +HP:0031591 eustachian giant valve +HP:0031591 enlarged eustachian valve +HP:0031591 cava enlarged inferior valve vena +HP:0006625 breast carcinoma multifocal +HP:0006625 breast cancer multifocal +HP:0006623 costochondral joints sclerotic +HP:0006623 costochondral joint sclerosis +HP:0031598 notched p wave +HP:0031599 mitrale p +HP:0007939 cone monochromacy s +HP:0007939 blue cone monochromacy +HP:0007939 achromatopsia incomplete +HP:0007939 blue cone monochromatism +HP:0100191 4th absent bone end innermost part toe +HP:0100191 4th absent epiphysis phalanx proximal toe +HP:0007933 eyebrow lateral wide +HP:0007933 broad eyebrow lateral +HP:0007932 bilateral mydriasis +HP:0007935 juvenile lenticular opacities posterior subcapsular +HP:0005878 canal cervical diameter enlarged sagittal +HP:0007937 degeneration pigmentary reticular +HP:0007937 degeneration honeycomb retinal +HP:0007937 fishnet pigmentation retinal +HP:0007936 bilateral external ophthalmoplegia restrictive +HP:0007936 ophthalmoplegia restrictive +HP:0007936 external ophthalmoplegia restrictive +HP:0031628 aborted cardiac death sudden +HP:0031629 clumsy tandem walking +HP:0031629 gait impaired tandem +HP:0100192 4th bone bracket end innermost part shaped toe +HP:0100192 4th bracket epiphysis phalanx proximal toe +HP:0031620 3 anterior chamber flare grade +HP:0031621 4 anterior chamber flare grade +HP:0031622 anomaly brown +HP:0031622 brown syndrome +HP:0031623 brow drooping +HP:0031623 brow ptosis +HP:0031624 moderate myopia +HP:0031625 3 a all an arterial artery contained disruption layers rupture wall with +HP:0031625 pseudoaneurysm +HP:0031626 atresia coronary ostium +HP:0031626 atresia coronary ostial +HP:0031627 calcification globus pallidus +HP:0200161 absence front lower tooth +HP:0200161 agenesis incisor lower +HP:0200161 front lower missing tooth +HP:0200161 absence incisor mandibular +HP:0200161 absence incisor lower +HP:0200161 incisor lower missing +HP:0200161 development failure incisor mandibular +HP:0200161 agenesis incisor mandibular +HP:0200160 incisor missing upper +HP:0200160 development failure incisor upper +HP:0200160 front missing tooth upper +HP:0200160 agenesis incisor maxillary +HP:0200160 absence incisor maxillary +HP:0200160 absence front tooth upper +HP:0200160 development failure incisor maxillary +HP:0100199 4th bone end innermost part small toe +HP:0100199 4th epiphysis phalanx proximal small toe +HP:0100198 4th phalanx proximal pseudoepiphysis toe +HP:0005871 chondrodysplasia metaphyseal +HP:0002937 hemivertebra +HP:0002937 hemivertebrae +HP:0002937 hemi vertebrae +HP:0002937 missing part vertebrae +HP:0005876 contractures joint progressive +HP:0005876 contractures flexion progressive +HP:0005877 fractures multiple small vertebral +HP:0003431 decreased motor ncv +HP:0003431 conduction decreased motor nerve velocity +HP:0003431 conduction motor nerve reduced velocity +HP:0003431 conduction decreased motor nerve velocities +HP:0100102 2nd cone distal epiphysis phalanx shaped toe +HP:0100102 2nd bone cone end outermost part shaped toe +HP:0004918 acidosis hyperchloremic metabolic +HP:0004919 galactose intolerance +HP:0004912 hypophosphatemic rickets +HP:0004913 acidemia intermittent lactic +HP:0004910 bicarbonate renal wasting +HP:0004910 acidosis bicarbonate renal tubular wasting +HP:0004911 acidosis episodic metabolic +HP:0004911 acidosis episodes recurrent +HP:0004916 acidosis distal generalized tubular +HP:0004914 blood infant low recurrent sugar +HP:0004914 hypoglycemia infantile recurrent +HP:0004914 episodic hypoglycemia infantile +HP:0004915 galactose impairment metabolism +HP:0004915 galactose impaired metabolism +HP:0001399 failure liver +HP:0001399 failure hepatic +HP:0001397 liver steatosis +HP:0001397 fatty liver +HP:0001397 fatty infiltration liver +HP:0001397 hepatic steatosis +HP:0001397 steatosis +HP:0001396 bile blocked flow from liver or slowed +HP:0001396 cholestasis +HP:0001395 fibrosis hepatic +HP:0001394 healthy liver replaces scar tissue +HP:0001394 cirrhosis liver +HP:0001394 cirrhosis hepatic +HP:0001394 cirrhosis +HP:0001392 abnormality liver +HP:0001392 abnormal liver +HP:0001392 disease liver +HP:0000372 abnormality auditory canal +HP:0000370 abnormality ear middle +HP:0000370 abnormalities ear middle +HP:0000371 acute ear infection middle +HP:0000371 acute media otitis +HP:0000376 malformation mondini +HP:0000376 cochlea ii incomplete partition type +HP:0000377 ears simple +HP:0000377 ears malformed +HP:0000377 abnormally ears shaped +HP:0000377 auricles malformed +HP:0000377 auricles malformation minor +HP:0000377 ears external malformed +HP:0000377 abnormality pinna +HP:0000377 conchae defined poorly +HP:0000377 auricular malformation +HP:0000377 deformed ears +HP:0000377 dysplastic ears +HP:0000377 auricles deformed +HP:0000377 auricle malformation +HP:0000377 abnormal ears form +HP:0000375 abnormal cochlea morphology +HP:0000375 abnormality cochlea +HP:0500141 blood low phenylalanine +HP:0500141 hypophenylalaninemia +HP:0500141 blood decreased phenylalanine +HP:0000378 capuchin ears +HP:0000378 cup ears shaped +HP:0000378 cup ears shaped simple +HP:0000378 cupped ear +HP:0000378 cupped ears +HP:0008141 dislocation toes +HP:0008142 calcaneal delayed ossification +HP:0008142 bone delayed heel maturation +HP:0008144 dome flattening talar +HP:0008148 aggregation epinephrine impaired induced platelet +HP:0004871 fistula perineal +HP:0004870 anemia chronic hemolytic +HP:0009553 abnormality hairline +HP:0004872 hernia incisional +HP:0004872 abdominal hernia recurrent +HP:0004875 inspiratory neonatal stridor +HP:0009554 cheek down growing hair to +HP:0009554 cheek hair lateral onto projection scalp +HP:0009557 absent bone finger index outermost small +HP:0009557 2nd aplasia distal finger hypoplasia phalanx +HP:0009557 absent bone finger index outermost underdeveloped +HP:0004876 neonatal pneumothorax +HP:0004876 neonatal pneumothorax spontaneous +HP:0004879 episodic hyperventilation +HP:0004879 intermittent overbreathing +HP:0004879 hyperventilation intermittent +HP:0004878 between muscle ribs weakness +HP:0004878 intercostal muscle weakness +HP:0003434 ataxic neuropathy sensory +HP:0030872 abnormal cardiac function ventricular +HP:0001572 excess mass tooth +HP:0001572 large tooth +HP:0001572 macrodontia +HP:0001572 hyperplasia tooth +HP:0001572 large teeth +HP:0001572 increased size tooth +HP:0001572 increased tooth width +HP:0001572 hypertrophy tooth +HP:0001571 impacted teeth +HP:0001571 impacted multiple teeth +HP:0001571 multiple retained teeth +HP:0001571 buried multiple teeth +HP:0030871 arthritis facet +HP:0030871 arthrosis facet joint +HP:0030876 arterial increased pressure pulmonary wedge +HP:0030876 artery increased occlusion pressure pulmonary +HP:0030876 capillary increased pressure pulmonary wedge +HP:0030877 deficit function obstructive on pulmonary testing +HP:0030877 deficit function obstructive on pulmonary test +HP:0001575 changes mood +HP:0001575 alterations mood +HP:0001575 moody +HP:0001574 abnormality integument +HP:0001579 hypercortisolism primary +HP:0001579 acth hypercortisolemia independent +HP:0030879 hrct interlobular on pulmonary septal thickening +HP:0005476 patent sagittal suture widely +HP:0005477 base progressive sclerosis skull +HP:0000114 defect proximal renal tubule +HP:0000114 defect proximal tubular +HP:0000114 proximal tubulopathy +HP:0000114 damage proximal selective tubular +HP:0000114 proximal renal tubulopathy +HP:0000114 dysfunction proximal tubule +HP:0005472 craniosynostosis orbital +HP:0000113 disease kidney polycystic +HP:0000113 kidneys polycystic +HP:0000113 dysplasia kidney polycystic +HP:0000113 enlarged kidneys polycystic +HP:0000110 adysplasia renal +HP:0000110 dysplasia renal +HP:0000110 dysplastic kidneys +HP:0000111 cell hyperplasia hypertrophy juxtaglomerular renal +HP:0000118 abnormality organ +HP:0000118 abnormality phenotypic +HP:0000119 anomalies genitourinary tract +HP:0000119 disease genitourinary +HP:0000119 genitourinary malformation tract +HP:0000119 abnormality genitourinary system +HP:0000119 abnormality genitourinary +HP:0000119 abnormalities urogenital +HP:0000119 dysplasia genitourinary +HP:0000119 anomalies urogenital +HP:0011327 plagiocephaly posterior +HP:0011327 occipital plagiocephaly +HP:0011327 deformational plagiocephaly posterior +HP:0011326 deformational frontal plagiocephaly +HP:0011326 anterior plagiocephaly +HP:0011326 coronal synostosis +HP:0011326 craniosynostosis unicoronal +HP:0011326 anterior deformational plagiocephaly +HP:0011326 frontal plagiocephaly +HP:0011326 anterior plagiocephaly positional +HP:0011326 anterior flat head syndrome +HP:0011326 frontal plagiocephaly positional +HP:0011325 pansynostosis +HP:0011325 all cranial sutures sysnostosis +HP:0009088 articulation difficulties speech +HP:0011323 chin defect midline +HP:0011323 chin cleft +HP:0011322 right synostosis unilambdoid +HP:0011321 left synostosis unilambdoid +HP:0011320 synostosis unilambdoid +HP:0011320 lambdoid suture synostosis unilateral +HP:0011320 craniosynostosis lambdoid unilateral +HP:0009087 placed posteriorly tongue +HP:0002938 curvature excessive inward lower spine +HP:0002938 exaggerated lordosis lumbar +HP:0002938 hyperlordosis lumbar +HP:0002938 lordosis lumbar +HP:0002938 increased lordosis lumbar +HP:0002938 lordosis lumbar prominent +HP:0009085 alveolar ridges thickened +HP:0009085 alveolar excess ridge +HP:0009085 gum overgrowth ridge +HP:0009085 alveolar hyperplasia ridge +HP:0009085 alveolar enlarged ridge +HP:0009085 alveolar hyperplasia jaw process +HP:0009085 alveolar ridges thick +HP:0009085 gum increased ridge size +HP:0009085 alveolar increased ridge size +HP:0009085 alveolar hypertrophied ridge +HP:0009085 alveolar overgrowth ridge +HP:0009084 gum midline notch ridge upper +HP:0009084 alveolar cleft maxillary midline process +HP:0009084 alveolar maxillary midline notch ridge +HP:0009084 alveolar cleft midline ridge upper +HP:0009084 alveolar midline notch ridge upper +HP:0009084 alveolar maxillary midline notch process +HP:0011532 exudate subretinal +HP:0011533 degeneration retinal snowflake +HP:0011533 degeneration snowflake vitreoretinal +HP:0011530 holes retinal +HP:0011530 hole retinal +HP:0100103 2nd distal enlarged epiphysis phalanx toe +HP:0100103 2nd bone end enlarged outermost part toe +HP:0011531 vitritis +HP:0011531 vitreitis +HP:0011531 hyalitis +HP:0011536 atrial isomerism right +HP:0011537 atrial isomerism left +HP:0031835 abnormal activity oxidoreductase superoxide +HP:0031835 abnormal activity dismutase superoxide +HP:0031834 aortopulmonary arteries collateral +HP:0031837 activity decreased oxidoreductase superoxide +HP:0031837 activity decreased dismutase superoxide +HP:0031836 activity increased oxidoreductase superoxide +HP:0031836 activity dismutase increased superoxide +HP:0031831 decreased serum zinc +HP:0031830 pinguecula +HP:0031833 hypometric saccades upward +HP:0031832 downward hypermetric saccades +HP:0011535 abnormal arrangement atrial +HP:0011535 abnormal atrium heart location +HP:0008187 at characteristics no puberty secondary sexual +HP:0008187 absence characteristics secondary sex +HP:0003459 elevation igm polyclonal +HP:0011284 aganglionic megacolon segment short +HP:0040208 biopterin csf elevated level +HP:0040209 bh4 csf low tetrahydrobiopterin +HP:0040209 biopterin csf decreased level +HP:0011285 aganglionic long megacolon segment +HP:0040202 abnormal behavior consumption +HP:0040203 abnormal csf level neopterin +HP:0040200 impersistence motor +HP:0040200 chorea negative +HP:0040201 simultanapraxia +HP:0040206 abnormal level neopterin +HP:0040207 abnormal biopterin csf level +HP:0040204 csf elevated level neopterin +HP:0040205 csf decreased level neopterin +HP:0011287 eeg occipital sharp slow waves with +HP:0006502 absent bones underdeveloped wrist +HP:0006502 aplasia bones carpal hypoplasia involving +HP:0006502 absent bones small wrist +HP:0010632 anosmia total +HP:0010633 anosmia partial +HP:0010630 abnormality epiphyses metatarsals +HP:0010630 abnormality epiphysis metatarsal +HP:0010630 abnormality bone end foot long part +HP:0010631 abnormality bone end foot part +HP:0010631 abnormality epiphyses feet +HP:0010188 bone curved outermost toe +HP:0010188 curved distal phalanx toe +HP:0010188 curved distal phalanges toes +HP:0010189 defects distal osteolytic phalanges toes +HP:0010634 hyposmia total +HP:0010635 hyposmia partial +HP:0010184 abnormality phalanx proximal toe +HP:0010184 abnormal bone innermost toe +HP:0010184 abnormality phalanges proximal toes +HP:0010185 absent bones outermost toe underdeveloped +HP:0010185 absent bones outermost small toe +HP:0010185 agenesis distal hypoplasia phalanges toes +HP:0010185 aplasia distal hypoplasia phalanges toes +HP:0010185 absent hypoplastic phalanges terminal toes +HP:0010638 alkaline elevated hepatic origin phosphatase +HP:0010187 bullet distal phalanges shaped toes +HP:0010187 bullet distal phalanx shaped toe +HP:0010187 bone bullet outermost shaped toe +HP:0010180 phalanges shaped toes triangular +HP:0010180 bones shaped toe triangular +HP:0010181 duplication phalanx toe +HP:0010181 bone duplicated toe +HP:0010181 complete duplication partial phalanges toes +HP:0010182 abnormality bone outermost toes +HP:0010182 abnormality distal phalanges toes +HP:0010183 abnormal bones middle toe +HP:0010183 abnormality middle phalanges toes +HP:0011583 cervical cordis ectopia +HP:0011582 abdominal cordis ectopia +HP:0011581 double left outlet ventricle +HP:0011580 chordae mitral short tendineae valve +HP:0011587 abnormal aortic arch branching pattern +HP:0011586 cordis ectopia thoracoabdominal +HP:0011585 cordis ectopia thoracic +HP:0011584 cordis ectopia thoracocervical +HP:0011859 keratitis punctate +HP:0011858 activity factor ix reduced +HP:0011858 activity factor ix low +HP:0011589 brachiocephalic common trunk +HP:0011589 artery brachiocephalic carotid common left origin right +HP:0011589 arch bovine +HP:0011589 arch ovine +HP:0011588 aortic arch cervical +HP:0004746 dense deposit disease +HP:0004746 dense deposits electron glomerular subendothelial +HP:0004746 glomerulonephritis ii membranoproliferative type +HP:0003134 abnormality conduction nerve peripheral +HP:0003134 abnormal nerve peripheral transmission +HP:0003134 abnormalities conduction motor nerve sensory +HP:0003137 prolinuria +HP:0003131 cystine high levels urine +HP:0003131 cystinuria +HP:0003130 abnormal myelination peripheral +HP:0003133 abnormality spinocerebellar tracts +HP:0003139 panypogammaglobulinemia +HP:0003139 panhypogammaglobulinemia +HP:0003138 blood increased nitrogen urea +HP:0003138 bun increased +HP:0000220 incompetence velopharyngeal +HP:0000220 insufficiency velopharyngeal +HP:0000220 dysfunction velopharyngeal +HP:0002848 antibody antigens depressed polysaccharide response to +HP:0002848 anti antibody deficiency polysaccharide specific +HP:0005613 absent femora hypoplastic to +HP:0005613 aplastic femora hypoplastic +HP:0005613 absent thighbone underdeveloped +HP:0005613 aplasia femur hypoplasia +HP:0005613 absent small thighbone +HP:0002846 abnormality b cells +HP:0002846 abnormal b cells +HP:0002846 abnormal b cell morphology +HP:0002847 b cell generation impaired memory +HP:0002842 burkholderia cepacia infections recurrent +HP:0002843 abnormality cells t +HP:0002843 cellular defective immunity +HP:0002843 abnormal cell morphology t +HP:0002843 cellular defect immune +HP:0002843 abnormal cells t +HP:0002840 inflammation lymph nodes +HP:0002840 lymphadenitis +HP:0002841 fungal infections recurrent +HP:0010456 abnormality greater notch sacrosciatic +HP:0010457 notch sacrosciatic widening +HP:0010454 acetabular spurs +HP:0010455 acetabular roof steep +HP:0010452 ectopic spleen +HP:0010452 ectopia spleen +HP:0010452 abnormal location spleen +HP:0010453 asymmetry pelvic +HP:0010453 asymmetric pelvis +HP:0010453 asymmetry bone pelvic +HP:0010450 esophageal stenosis +HP:0010450 esophagus narrowing +HP:0010451 absent spleen underdeveloped +HP:0010451 aplasia hypoplasia spleen +HP:0010451 absent small spleen +HP:0005616 accelerated maturation skeletal +HP:0005616 advanced age bone +HP:0005616 bone early maturation +HP:0008838 arm bone calcifications end innermost long part speckled upper +HP:0008838 calcification epiphyses humeral proximal stippled +HP:0010988 abnormality extrinsic pathway +HP:0010989 abnormality intrinsic pathway +HP:0010458 female pseudohermaphroditism +HP:0005617 bilateral camptodactyly +HP:0005890 bones inner skull surface thick +HP:0005890 bones inner overgrowth skull surface +HP:0005890 bones cranial hyperostosis internal surface +HP:0005890 inside overgrowth skull +HP:0005890 bones enlargement inner skull surface +HP:0005890 cranialis hyperostosis interna +HP:0005890 bones cranial internal surface thick +HP:0005890 bone cranial hyperostosis internal surface +HP:0005890 bones excessive growth inner skull surface +HP:0005890 bones cranial increased internal ossification surface +HP:0005890 bones cranial hypertrophy internal surface +HP:0005891 bowing forearm progressive +HP:0005891 curvature forearm progressive +HP:0005892 bone calf fusion innermost shinbone +HP:0005892 fibular fusion proximal tibial +HP:0005894 double first metacarpals +HP:0005894 1st bones double hand long +HP:0005895 deviation phalanx radial terminal thumb +HP:0005897 generalized osteoporosis severe +HP:0005899 dysostosis metaphyseal +HP:0009267 4th epiphysis finger ivory phalanx proximal +HP:0009267 bone density end finger increased innermost part ring +HP:0008970 dystrophy muscular scapulohumeral +HP:0000884 protrusion sternal +HP:0000884 prominent sternum +HP:0030499 accumulation lipid macula +HP:0030499 drusen macular +HP:0000887 cupped ribs +HP:0000887 cupping rib +HP:0000887 flaring rib +HP:0030066 ependymoblastoma +HP:0004625 biconvex bodies vertebral +HP:0031353 behind eardrum fluid +HP:0031353 effusion media otitis with +HP:0031457 opacity pulmonary +HP:0031456 ectopic pregnancy +HP:0031455 ganglioneuroma presacral +HP:0031454 apocrine hidrocystoma +HP:0031453 lesion lichenoid oral +HP:0031452 lesion lichenoid skin +HP:0031451 extremity fat hypertrophy lower subcutanous +HP:0002232 alopecia patchy +HP:0031459 neoplasm soft tissue +HP:0031458 adenoiditis +HP:0025548 concentration corpuscular hemoglobin increased mean +HP:0025548 corpuscular haemoglobin increased mean +HP:0025548 increased mch +HP:0002268 dystonia episodic +HP:0002268 dystonia paroxysmal +HP:0002269 abnormal heterotopias migration +HP:0002269 brain disorder migrational +HP:0002269 abnormality migration neuronal +HP:0002269 disorder migration neuronal +HP:0002269 abnormal migration neuronal +HP:0003325 girdle limb muscle weakness +HP:0003325 girdle limb weakness +HP:0003325 girdle limb muscular weakness +HP:0002263 accentuated bow cupid s +HP:0002263 bow cupid lip shaped upper +HP:0002263 bow cupid lip prominent upper +HP:0002263 bow cupid exaggerated s +HP:0002263 bow cupid lip upper +HP:0002266 clonic localized seizure +HP:0002266 clonic partial seizure +HP:0002266 clonic focal seizures +HP:0002267 exaggerated response startle +HP:0002267 hyperekplexia +HP:0002267 increased response startle +HP:0002267 acoustic exaggerated response startle +HP:0002265 ears fleshy large +HP:0005575 hemolytic syndrome uremic +HP:0006293 central incisor missing upper +HP:0006293 central incisor maxillary missing +HP:0006293 absence central incisor maxillary +HP:0006293 agenesis central incisor maxillary +HP:0006293 central development failure incisor maxillary +HP:0012179 craniofacial dystonia +HP:0012179 abnormal craniofacial posture +HP:0012179 dystonia facial +HP:0012179 abnormal craniofacial muscle tone +HP:0012179 craniofacial distorted posture +HP:0012179 abnormal facial muscle tone +HP:0012178 activity cell killer natural reduced +HP:0100608 bleeding intermenstrual +HP:0100608 menstrual spotting +HP:0100608 abnormal bleeding uterus +HP:0100608 metrorrhagia +HP:0012173 postural tachycardia +HP:0012173 orthostatic tachycardia +HP:0012172 body rocking stereotypical +HP:0012171 hand stereotypical wringing +HP:0012170 onychophagy +HP:0012170 biting nail +HP:0012170 onychophagia +HP:0012177 abnormal cell killer natural physiology +HP:0008828 delayed epiphyses femoral ossification proximal +HP:0008828 delayed epiphysis femoral ossification proximal +HP:0008828 delayed epiphyseal femoral ossification proximal +HP:0012175 activated c protein resistance +HP:0012175 activated c protein resistance to +HP:0012174 glioblastoma multiforme +HP:0012174 glioblastoma +HP:0000152 abnormality head neck or +HP:0000152 abnormality head neck +HP:0006290 discolored incisors lateral +HP:0006290 discolored front teeth +HP:0006290 abnormality incisor lateral shade +HP:0006290 abnormality color incisor lateral +HP:0006290 abnormality color front teeth +HP:0006297 dental enamel hypoplasia +HP:0006297 enamel hypoplasia tooth +HP:0006297 dental enamel thin +HP:0006297 enamel hypoplasia +HP:0006297 dysplasia enamel tooth +HP:0006297 enamel teeth underdeveloped +HP:0006297 dysplasia enamel +HP:0006297 enamel thin tooth +HP:0006297 defective enamel matrix +HP:0003323 muscular progressive weakness +HP:0003323 muscle progressive weakness +HP:0005430 infections neisserial recurrent +HP:0005430 episodes infection neisserial +HP:0005430 infections neisseria recurrent +HP:0003451 chromosome condensation increased premature rate +HP:0000403 media otitis susceptibility to +HP:0000403 frequent media otitis +HP:0000403 ear infection middle recurrent +HP:0000403 media otitis recurrent +HP:0000403 episodes media otitis recurrent +HP:0000403 episodes media multiple otitis +HP:0000157 abnormality lingual +HP:0000157 abnormality glossal +HP:0000157 abnormality tongue +HP:0000157 abnormal tongue +HP:0007830 adult blindness night onset +HP:0007343 abnormal limbic morphology system +HP:0007343 limbic malformation +HP:0000155 oral ulcer +HP:0000155 mouth sore +HP:0000155 mouth ulcer +HP:0003456 administration amp cyclic low pth response to urinary +HP:0007340 leg weakness +HP:0007340 extremity lower weakness +HP:0007340 limb lower weakness +HP:0007340 limbs lower muscle weakness +HP:0007340 limb lower muscle weakness +HP:0007833 anterior chamber synechiae +HP:0030058 erythrocytes sickled +HP:0030059 depletion mitochondrial +HP:0012359 abnormal fucosylation glycosylation linked o protein +HP:0012358 abnormal glycosylation linked o protein +HP:0012357 glycosylation increased linked mannosylation n protein +HP:0030055 hyperconvex toenail +HP:0012355 abnormal glycosylation linked mannosylation n protein +HP:0012354 fucosylation glycosylation increased linked n protein +HP:0012353 decreased fucosylation glycosylation linked n protein +HP:0012352 abnormal fucosylation glycosylation linked n protein +HP:0012351 glycosylation increased linked n protein sialylation +HP:0012350 decreased glycosylation linked n protein sialylation +HP:0007236 infarcts recurrent subcortical +HP:0100352 2nd contracture distal interphalangeal joint toe +HP:0100352 contracture distal interphalangeal joint second toe +HP:0100351 5th contractures interphalangeal joint proximal toe +HP:0100351 5th camptodactyly toe +HP:0100351 camptodactyly fifth toe +HP:0100350 4th contracture interphalangeal joint proximal toe +HP:0100350 camptodactyly fourth toe +HP:0100350 4th contracture hinge innermost joint toe +HP:0100350 4th camptodactyly toe +HP:0100357 3rd contracture joint metatarsophalangeal toe +HP:0007721 conjunctival dilatations saccular +HP:0007721 aneurysms conjunctival saccular +HP:0007230 action decreased distal nerve potential sensory +HP:0100354 4th contracture distal interphalangeal joint toe +HP:0100359 5th contracture joint metatarsophalangeal toe +HP:0100358 4th contracture joint metatarsophalangeal toe +HP:0007728 miosis +HP:0007238 calcification cerebral nonarteriosclerotic +HP:0007239 encephalopathy +HP:0008494 inferior lens subluxation +HP:0008494 inferior lens subluxated +HP:0002996 elbow limited movement +HP:0002996 decreased elbow mobility +HP:0002996 elbow motion restricted +HP:0002996 elbow limited mobility +HP:0011363 abnormality growth hair pace +HP:0011363 abnormality growth hair speed +HP:0011363 abnormality growth hair rate +HP:0008491 anterior closure fontanel premature +HP:0001769 foot wide +HP:0001769 broad foot +HP:0001769 broad feet +HP:0003454 antibody platelet positive +HP:0003454 antibody platelet +HP:0001765 hammer toe +HP:0001765 hammertoes +HP:0001765 hammertoe +HP:0001762 clubfoot +HP:0001762 club feet +HP:0001762 equinovarus +HP:0001762 club foot +HP:0001762 equinovarus talipes +HP:0001762 equinovarus foot talipes +HP:0001762 equinovarus pes +HP:0001762 equinus pes +HP:0001762 clubfeet +HP:0001762 talipes varus +HP:0001763 arches dropped +HP:0001763 feet flat +HP:0001763 flat foot +HP:0001763 arches fallen +HP:0001763 pes planus +HP:0001760 abnormality feet +HP:0001760 abnormal feet morphology +HP:0001760 deformities foot +HP:0001760 abnormality foot +HP:0001760 deformity foot +HP:0001761 arched foot high +HP:0001761 cavus pes +HP:0100633 esophagitis +HP:0100633 oesophagitis +HP:0100633 esophagus inflammation +HP:0008233 circulating decreased progesterone +HP:0008233 decreased progesterone serum +HP:0100635 carotid paraganglioma +HP:0045009 abnormal morphology radius +HP:0045008 abnormal radius shape +HP:0011365 hair hypopigmentation patchy +HP:0045003 abnormal ossification scaphoid +HP:0045002 absent ossification trapezium +HP:0045001 abnormal ossification trapezium +HP:0011364 hair white +HP:0045007 abnormality nigra substantia +HP:0045006 aplasia lymphatic vessels +HP:0045006 absent lymphatic vessels +HP:0045005 defect neural tube +HP:0045005 abnormality closure neural tube +HP:0045004 abnormal bone ossification trapezoid +HP:0010761 columella fullness +HP:0010761 columella increased width +HP:0010761 columella wide +HP:0010761 columella hyperplasia +HP:0010761 broad columella +HP:0002990 aplasia fibular +HP:0002990 absent fibulae +HP:0002990 absent bone calf +HP:0002990 absent fibulae hypoplastic +HP:0000682 abnormalities enamel +HP:0000682 enamel malformation tooth +HP:0000682 dystrophic enamel tooth +HP:0000682 abnormality dental enamel +HP:0000682 defective enamel tooth +HP:0000682 abnormality enamel +HP:0000682 abnormal enamel tooth +HP:0000682 dental enamel malformation +HP:0030469 abnormal adapted dark electroretinogram +HP:0030468 abnormal electroretinogram multifocal +HP:0030465 adapted electroretinogram light undetectable +HP:0030465 absent cone erg on photopic responses +HP:0030465 detectable erg non photopic +HP:0030464 asymmetry crossed evoked pattern potentials reversal visual +HP:0030464 asymmetrical distribution evoked pattern potentials reversal visual +HP:0030467 abnormal electroretinogram pattern +HP:0030466 abnormal electroretinogram field full +HP:0030461 abnormal evoked flash potentials timing visual +HP:0030460 abnormal evoked pattern potentials reversal timing visual +HP:0030463 asymmetry crossed evoked flash potentials visual +HP:0030463 asymmetrical distribution evoked flash potentials visual +HP:0030462 abnormal amplitude evoked flash potentials visual +HP:0009049 atrophy peroneal +HP:0009049 atrophy muscle peroneal +HP:0002991 abnormality fibula morphology +HP:0002991 abnormality bone calf +HP:0010767 abnormality pilonidal sacrococcygeal +HP:0001188 clenching hand +HP:0001188 clenched hands +HP:0008835 femoral head multicentric ossification +HP:0001182 finger tapered +HP:0001182 fingers tapering +HP:0001182 fingers tapered +HP:0001182 fingertips tapered +HP:0001182 distally fingers tapering +HP:0001180 hand oligodactyly +HP:0001181 adducted thumbs +HP:0001181 adducted thumb +HP:0001181 inward thumb turned +HP:0001187 finger hyperextensible +HP:0001187 digits hyperextensible +HP:0001187 finger hyperextensibility joints +HP:0001187 fingers hyperextensible +HP:0001187 finger hyperextensibility joint +HP:0005648 bilateral hypoplasia ulnar +HP:0000085 horseshoe kidney +HP:0000085 fused kidneys +HP:0000085 horseshoe kidneys +HP:0005645 calcifications disk intervertebral multiple +HP:0005645 calcification disk intervertebral +HP:0005640 abnormal fusion segmentation vertebral +HP:0005643 3rd short toe +HP:0005643 brachydactyly third toes +HP:0005643 short third toe +HP:0031380 abnormal b cell proliferation +HP:0000080 abnormality genital physiology +HP:0000080 abnormality physiology reproductive system +HP:0000080 abnormality functional genital +HP:0000081 collecting duplicated renal system +HP:0000081 collecting double system +HP:0000081 collecting double intravenous on pyelography systems urinary +HP:0000081 collecting duplicated system +HP:0000081 collecting duplex system +HP:0001982 blue histiocytosis sea +HP:0001982 blue histiocytes sea +HP:0001982 blue histiocyte sea +HP:0001983 cd43 expression lymphocyte reduced surface +HP:0001983 blood cd43 cells defectively expressed on surface +HP:0001983 expression lymphocyte reduced sialophorin surface +HP:0001980 bone marrow megaloblastic +HP:0001981 schistocytosis +HP:0001981 schistocytes +HP:0001986 dehydration hypertonic +HP:0001986 dehydration hyperosmolar +HP:0001987 hyperammonemia +HP:0001987 ammonia blood high levels +HP:0001984 intolerance protein to +HP:0001985 hypoglycemia hypoketotic +HP:0001988 hypoglycaemia recurrent +HP:0001988 hypoglycemia recurrent +HP:0001988 blood levels low recurrent sugar +HP:0001988 episodes hypoglycemic +HP:0001988 episodes hypoglycemic recurrent +HP:0001989 akinesia early fetal sequence severe +HP:0001989 akinesia fetal sequence +HP:0001989 akinesia fetal +HP:0031127 aggregation convulxin impaired induced platelet +HP:0031126 clot impaired retraction +HP:0031332 cardiomyocyte degeneration +HP:0031333 disarray myocardial sarcomere +HP:0031333 disarray myocardial sarcomeric +HP:0031330 cell immune infiltration myocardial perivascular +HP:0031331 abnormal cardiomyocyte morphology +HP:0031331 abnormal cardiac cell morphology muscle +HP:0031336 cardiomyocyte intranuclear mitochondria +HP:0031337 abnormal cardiomyocyte connexin43 staining +HP:0031334 bodies cardiomyocyte inclusion +HP:0031335 abnormal cardiomyocyte mitochondrial morphology +HP:0031338 abnormal cardiomyocyte plakoglobin staining +HP:0031339 abnormal cadiomyocyte dystrophin staining +HP:0031129 acetate aggregation impaired induced myristate phorbol platelet +HP:0003575 increased intracellular sodium +HP:0004254 delayed ossification trapezium +HP:0004254 delayed maturation trapezium +HP:0200021 down shoulders sloping +HP:0200021 rounded shoulders sloping +HP:0200021 shoulders sloping +HP:0200021 rounded shoulders +HP:0000589 colobomas ocular +HP:0000589 notched pupil +HP:0000589 coloboma ocular +HP:0000589 coloboma +HP:0000588 coloboma nerve optic +HP:0000588 coloboma disk optic +HP:0000581 between eyelids narrow opening +HP:0000581 decreased fissure palpebral width +HP:0000581 blepharophimosis +HP:0000580 clumping pigment retinal +HP:0000580 deposits pigmentary retinal +HP:0000580 pigmentary retinopathy +HP:0000580 degeneration pigmentary retinal +HP:0000582 mongoloid slant +HP:0000582 fissures palpebral slanted upward +HP:0000582 fissures palpebral slanting upward +HP:0000582 fissure palpebral upslanted +HP:0000582 between eyelids opening slanting upward +HP:0000582 fissures palpebral upslanting +HP:0000582 fissures palpebral upslanted +HP:0000585 band calcific keratopathy +HP:0000585 band keratopathy +HP:0000584 corneal epithelial erosions punctate +HP:0000587 abnormality nerve optic +HP:0000587 abnormalities nerve optic +HP:0000587 issue nerve optic +HP:0000586 decreased depth eye sockets +HP:0000586 orbits shallow small +HP:0000586 decreased depth orbits +HP:0000586 orbits shallow +HP:0000586 eye shallow sockets +HP:0008358 prolinemia +HP:0008358 hyperprolinemia +HP:0003573 bili high total +HP:0003573 bilirubin increased total +HP:0003573 bilirubin increased +HP:0006744 adrenal carinoma gland +HP:0006744 adrenocortical carcinoma +HP:0006744 adrenal carcinoma +HP:0008354 activation deficiency factor x +HP:0008357 activity factor reduced xiii +HP:0006747 ganglioneuroblastoma +HP:0008352 adhesion impaired thrombocytes +HP:0008352 adhesion impaired platelet +HP:0008353 hyperaminoaciduria neutral +HP:0003720 generalized hypertrophy muscle +HP:0003720 cell generalized increase muscle size +HP:0003722 flexor neck weakness +HP:0003722 flexion neck weakness +HP:0003722 flexor muscle neck weakness +HP:0003724 atrophy girdle shoulder +HP:0003724 girdle muscle shoulder wasting +HP:0003724 atrophy girdle muscle shoulder +HP:0003725 firm muscles +HP:0005852 elbow extension limited supination +HP:0009344 bone calcifications end finger long middle outermost part speckled +HP:0009344 3rd distal epiphysis finger phalanx stippling +HP:0003729 dermatomyositis enteroviral syndrome +HP:0009346 3rd absent epiphysis finger phalanx proximal +HP:0009346 absent bone end finger innermost long middle part +HP:0009347 bone bracket end finger innermost long middle part shaped +HP:0009347 3rd bracket epiphysis finger phalanx proximal +HP:0009340 bone end finger irregular long middle outermost part +HP:0009340 3rd distal epiphysis finger irregular phalanx +HP:0009341 3rd distal epiphysis finger ivory phalanx +HP:0009341 bone density end finger increased middle outermost part +HP:0009342 bone finger middle outermost pseudoepiphysis +HP:0009342 3rd distal finger phalanx pseudoepiphysis +HP:0009343 3rd distal epiphysis finger phalanx small +HP:0009343 bone end finger long middle outermost part small +HP:0002451 dystonia limb +HP:0002450 abnormal morphology motor neuron +HP:0002450 abnormal motor neuron shape +HP:0002981 abnormality calf +HP:0002980 bowed femur +HP:0002980 bowing femoral +HP:0002980 bowed femura +HP:0002980 bowed thighbone +HP:0002980 bowed femurs +HP:0002987 deformity elbow flexion +HP:0002987 contractures elbow +HP:0002987 contractures elbows +HP:0002987 contracture elbow flexion +HP:0002987 at elbow fixed flexion joint +HP:0002987 contracture elbow joint +HP:0002987 contracture elbow +HP:0002987 contractures elbow flexion +HP:0002454 anomaly eye globus pallidus tiger +HP:0002457 abnormal head movements +HP:0002984 radius short +HP:0002984 hypoplasia radial ray +HP:0002984 hypoplasia radial +HP:0002984 hypoplastic radius +HP:0002984 hypoplastic radii +HP:0002984 radii short +HP:0002984 radius shortening +HP:0002984 hypoplasia radius +HP:0002984 bone forearm large outer underdeveloped +HP:0010841 discharges epileptiform multifocal +HP:0010841 abnormality eeg multifocal +HP:0010843 activity eeg localised slow +HP:0010843 activity eeg focal slow +HP:0010843 activity eeg focal slow with +HP:0010843 activity eeg localized slow +HP:0006742 neuroblastoma +HP:0010845 activity eeg generalised slow +HP:0010845 activity eeg generalized slow with +HP:0010845 activity eeg generalized slow +HP:0010844 activity eeg multifocal slow with +HP:0010847 2 5 complexes eeg hz spike wave with +HP:0010846 abnormal activity eeg persistent rhythmic +HP:0010846 abnormal activity eeg persistent rhythmic with +HP:0000633 decreased secretion tear +HP:0000633 decreased lacrimation +HP:0000632 abnormality lacrimation +HP:0000632 abnormality production tear +HP:0000631 artery retinal tortuousity +HP:0000631 arterial retinal tortuosity +HP:0000630 abnormal artery morphology retinal +HP:0000630 abnormality arteries retinal +HP:0000630 abnormality arterial retinal +HP:0000637 fissure palpebral wide +HP:0000637 fissures long palpebral +HP:0000637 fissures palpebral wide +HP:0000637 broad fissure palpebral +HP:0000637 fissure long palpebral +HP:0000637 between broad eyelids opening +HP:0000637 between eyelids opening wide +HP:0000637 between eyelids long opening +HP:0000636 eyelid notched upper +HP:0000636 cleft eyelid upper +HP:0000636 coloboma eyelid upper +HP:0000636 defect eyelid full thickness upper +HP:0000636 colobomas eyelid upper +HP:0000635 blue eyes +HP:0000635 blue irides +HP:0000634 abduction impaired ocular +HP:0000639 eye involuntary movements rapid rhythmic +HP:0000639 nystagmus +HP:0011464 aganglionosis intestine small +HP:0011465 aganglionosis duodenal +HP:0011466 absent gallbladder small +HP:0011466 absent gallbladder underdeveloped +HP:0011466 aplasia gallbladder hypoplasia +HP:0011467 absent gallbladder +HP:0011467 agenesis gallbladder +HP:0011467 aplasia gallbladder +HP:0011468 facial spasms +HP:0011468 cramping facial muscles +HP:0011468 facial jerking muscles +HP:0011468 face muscle spasm +HP:0011468 mimic spasms +HP:0011468 facial muscles spasms +HP:0011468 facial involuntary muscle spasms +HP:0011468 facial muscles myoclonus +HP:0011468 facial tics +HP:0011468 facial muscles twitching +HP:0011469 nasal regurgitation +HP:0007770 hypoplasia retinal +HP:0007770 retina underdeveloped +HP:0007770 hypoplasia retina +HP:0003856 broad limbs metaphyses upper wide +HP:0003856 bone broad limb portion upper wide +HP:0003856 limb metaphyseal upper widening +HP:0003854 limbs metaphyses sclerosis upper +HP:0003854 bone bones density increased limb portion upper wide +HP:0003855 limbs metaphyses spurred upper +HP:0003855 bone limb portion spurred upper wide +HP:0003852 bands density limbs metaphyses normal transverse upper +HP:0003853 limbs metaphyses sclerosis striations transverse upper with +HP:0003850 irregularity limb metaphyseal upper +HP:0003850 irregular limbs metaphyses upper +HP:0003850 bones irregular limb portion upper wide +HP:0003851 defects limbs lytic metaphyses upper +HP:0003858 cortical diaphyseal irregularity limbs upper +HP:0003859 cortical diaphyseal limbs thickening upper +HP:0002677 foramen magnum small +HP:0002677 foramen little magnum +HP:0002677 foramen hypoplasia magnum +HP:0002677 foramen magnum stenosis +HP:0002677 foramen magnum narrow +HP:0002676 cloverleaf skull +HP:0002676 shape skull trilobar +HP:0002676 kleeblattschaedel +HP:0002676 cloverleaf cranium shape +HP:0002676 cranium shape trilobar +HP:0002676 cloverleaf shape skull +HP:0002671 basal cell epithelioma +HP:0002671 basal cell nevus +HP:0002671 basal carcinoma cell +HP:0002671 basal carcinomas cell +HP:0002671 basalioma +HP:0002673 coxa valga +HP:0002673 coxa deformity valga +HP:0002672 carcinoma gastrointestinal +HP:0030263 penis torsion +HP:0030262 narrow penis +HP:0030261 aphallia +HP:0030261 absent penis +HP:0030261 aplasia penis +HP:0030260 microphallus +HP:0002679 abnormality fossa pituitary +HP:0002679 abnormality fossa hypophysial +HP:0002679 anomaly fossa pituitary +HP:0002679 anomaly sella turcica +HP:0002679 abnormality sella turcica +HP:0002679 anomaly fossa hypophysial +HP:0002678 shape skull unequal +HP:0002678 abnormality shape skull +HP:0002678 shape skull uneven +HP:0002678 asymmetry skull +HP:0002678 malformation shape skull +HP:0030265 penis wide +HP:0030264 penis webbed +HP:0007009 central degeneration nervous system +HP:0008768 behavior inappropriate sexual +HP:0100508 abnormality metabolism vitamin +HP:0100509 abnormality c metabolism vitamin +HP:0008765 auditory hallucinations +HP:0008765 hearing sounds +HP:0008765 hallucinations sound +HP:0100507 blood concentration folate reduced +HP:0100507 b9 deficiency vitamin +HP:0100507 deficiency folate +HP:0007007 basal cavitation ganglia +HP:0007006 column degeneration dorsal +HP:0007001 cells cerebellar loss purkinje vermis +HP:0100503 blood level reduced thiamine +HP:0100503 b1 deficiency vitamin +HP:0008763 interaction no social +HP:0007002 axonal motor neuropathy +HP:0007002 dependent length motor neuropathy +HP:0007002 distal motor neuropathy +HP:0025144 shivering +HP:0025144 shuddering +HP:0025145 rigors +HP:0025146 degeneration foveal +HP:0025495 aorta descending hypoplasia +HP:0032171 bladder pain +HP:0032170 infection severe varicella zoster +HP:0025140 decreased estrone serum +HP:0025141 calcifications gingival +HP:0025141 calcification gingival +HP:0030199 fatigable muscles neck weakness +HP:0030198 distal fatigable limb muscles weakness +HP:0030195 fatigable muscles swallowing weakness +HP:0030194 fatigable muscles speech weakness +HP:0030197 fatigable muscles skeletal weakness +HP:0025143 chills +HP:0030191 abnormal nervous peripheral synaptic system transmission +HP:0030191 abnormal pns synaptic transmission +HP:0030190 hypotonia motor oral +HP:0030193 chewing fatigable muscles weakness +HP:0030192 bulbar fatigable muscles weakness +HP:0012091 abnormality pancreas physiology +HP:0025505 anomalous artery circumflex from origin right sinus valsalva +HP:0025506 anomaly artery coronary sandwich +HP:0025506 anomalous aortic arteries artery between coronary course great origin with +HP:0025507 orange papule yellow +HP:0025507 papule yellow +HP:0025500 class ii obesity +HP:0025500 2 grade obesity +HP:0025501 class iii obesity +HP:0025501 3 grade obesity +HP:0025502 overweight +HP:0025503 anomalous arising artery coronary from opposite sinus +HP:0025508 gottron papules s +HP:0025508 gottron papules +HP:0025509 papules pedal piezogenic +HP:0002189 daytime excessive sleepiness +HP:0002188 cns delayed myelination +HP:0002188 central delay myelination nervous system +HP:0003111 disorders electrolyte +HP:0003111 abnormality homeostasis ion +HP:0002183 phonophobia +HP:0002183 fear loud sounds +HP:0002181 brain oedema +HP:0002181 brain swelling +HP:0002181 cerebral edema +HP:0002181 brain edema +HP:0002180 disorder neurodegenerative progressive +HP:0002180 degenerative disease neuro +HP:0002180 neurodegeneration +HP:0002180 disease neurodegenerative +HP:0002180 cells loss nerve ongoing +HP:0002187 disability intellectual profound +HP:0002187 mental profound retardation +HP:0002187 20 iq less than +HP:0002186 apraxia +HP:0002186 apraxias +HP:0002185 filaments helical paired +HP:0002185 neurofibrillary tangles +HP:0002185 composed disordered microtubules neurofibrillary neurons tangles +HP:0012726 episodic hypokalemia +HP:0012726 low potassium recurrent +HP:0012727 aorta dilatation thoracic +HP:0012727 aneurysm aortic thoracic +HP:0012724 edema eyelid upper +HP:0012724 eyelid puffiness upper +HP:0012724 cellulitis eyelid upper +HP:0012724 eyelid swelling upper +HP:0012724 eyelid fullness upper +HP:0012725 cutaneous digits syndactyly +HP:0012725 cutaneous syndactyly +HP:0012722 block heart +HP:0012723 block sinoatrial +HP:0012720 nose tumor +HP:0012720 neoplasia nose +HP:0012720 nasal tumor +HP:0012720 nasal neoplasm +HP:0012720 neoplasm nose +HP:0012720 cancer nose +HP:0012721 malformation venous +HP:0012721 malformations venous +HP:0012728 aorta descending dilatation fusiform thoracic +HP:0012728 aneurysm aortic descending fusiform thoracic +HP:0012729 aneurysm aortic descending saccular thoracic +HP:0012729 aorta descending dilatation saccular thoracic +HP:0006352 adult eruption failure teeth +HP:0006352 adult dentition unerupted +HP:0006352 eruption failure permanent teeth +HP:0006352 dentition permanent unerupted +HP:0006352 permanent teeth unerupted +HP:0006352 adult teeth unerupted +HP:0006353 germ small tooth +HP:0006353 germ hypoplasia tooth +HP:0006353 decreased germ size tooth +HP:0006353 bud tooth underdevelopment +HP:0006353 germ tooth underdevelopment +HP:0006353 bud decreased size tooth +HP:0006353 germ hypotrophic tooth +HP:0006353 bud small tooth +HP:0006353 buds hypoplastic tooth +HP:0006350 chamber narrowing pulp tooth +HP:0006350 chamber pulp small tooth +HP:0006350 chamber obliteration pulp +HP:0006350 chamber pulp reduced size tooth +HP:0006350 chambers chevron crescent pulp shaped +HP:0006350 canal obliteration pulp +HP:0006603 ends flared irregular rib +HP:0006357 dentition early loss secondary +HP:0006357 adult loss premature teeth +HP:0006357 loss premature secondary teeth +HP:0006357 loss permanent premature teeth +HP:0006357 early loss permanent teeth +HP:0006357 adult early loss teeth +HP:0006606 costochondral irregular margins +HP:0006606 chondrocostal irregular junctions +HP:0006355 central incisor mandibular missing +HP:0006355 central incisor lower missing +HP:0006355 absence central incisor lower +HP:0006355 agenesis central incisor mandibular +HP:0006355 central development failure incisor mandibular +HP:0006355 absence central incisor mandibular +HP:0006608 hypoplasia midclavicular +HP:0006608 collarbone middle portion underdeveloped +HP:0006358 central incisors maxillary shaped shovel +HP:0006358 front shaped shovel teeth upper +HP:0011516 monochromacy rod +HP:0011516 monochromatism rod +HP:0011516 achromatopsia +HP:0005213 calcifications pancreatic +HP:0005213 calcification pancreatic +HP:0011345 delay expressive language moderate +HP:0007913 dystrophy reticular retinal +HP:0007911 both drooping eyelids upper +HP:0007911 bilateral ptosis +HP:0007917 detachment retinal tractional +HP:0011417 cord long umbilical +HP:0007915 corneal dystrophy polymorphous posterior +HP:0011963 azoospermia pretesticular +HP:0100127 2nd epiphysis irregular phalanx proximal toe +HP:0100127 2nd bone end innermost irregular part toe +HP:0200149 csf lymphocytosis +HP:0200149 csf lymphocytic pleiocytosis +HP:0200148 abnormal during function liver pregnancy tests +HP:0200148 abnormal during function liver postpartum pregnancy resolves tests +HP:0200147 basal ganglia loss neuronal +HP:0200146 aorta cystic medial necrosis +HP:0200146 accumulation extracellular matrix mucoid +HP:0200143 erythroid hyperplasia megaloblastic +HP:0200143 biopsy bone erythroid hyperplasia marrow megaloblastic shows +HP:0012371 big midface +HP:0012371 large midface +HP:0012371 midface overgrowth +HP:0012371 hypertrophy midface +HP:0012371 midfacial prominence +HP:0012371 hyperplasia midface +HP:0012371 excess midfacial +HP:0200141 conical microdontia +HP:0200141 cone shaped small teeth +HP:0200141 conical small teeth +HP:0200141 peg shaped small teeth +HP:0200141 pointed small teeth +HP:0009988 bone duplication finger little outermost +HP:0009988 5th complete distal duplication finger partial phalanx +HP:0009988 5th distal duplication finger phalanx +HP:0009988 bone duplication finger outermost pinkie +HP:0009988 bone duplication finger outermost pinky +HP:0009989 bone duplication finger middle pinky +HP:0009989 bone duplication finger middle pinkie +HP:0009989 bone duplication finger little middle +HP:0009989 5th duplication finger middle phalanx +HP:0009989 5th complete duplication finger middle partial phalanx +HP:0009982 bone duplication finger middle partial ring +HP:0009982 4th duplication finger middle partial phalanx +HP:0009983 bone duplication finger innermost partial ring +HP:0009983 4th duplication finger partial phalanx proximal +HP:0009980 bone complete duplication finger proximal ring +HP:0009980 4th complete duplication finger phalanx proximal +HP:0009981 bone finger notched outermost ring +HP:0009981 4th bifid finger phalanx terminal +HP:0009981 4th distal duplication finger partial phalanx +HP:0009981 bone duplication finger outermost partial ring +HP:0009986 bone complete duplication finger little +HP:0009986 bone complete duplication finger pinkie +HP:0009986 bone complete duplication finger pinky +HP:0009986 5th complete duplication finger phalanges +HP:0009987 5th duplication finger partial phalanges +HP:0009987 bone duplication finger partial pinky +HP:0009987 bone duplication finger partial pinkie +HP:0009987 bone duplication finger little partial +HP:0009985 5th complete duplication finger partial phalanges +HP:0009985 bone complete duplication finger little partial +HP:0009985 5th duplication finger phalanx +HP:0009985 bone complete duplication finger partial pinky +HP:0009985 bone complete duplication finger partial pinkie +HP:0004938 arteries cerebral tortuous +HP:0004938 arteries cerebral twisted +HP:0004934 calcification vascular +HP:0004935 atresia pulmonary +HP:0004935 artery atresia pulmonary +HP:0004936 thrombosis venous +HP:0004936 blood clot vein +HP:0004937 aneurysm artery pulmonary +HP:0004930 abnormality blood lung vessels +HP:0004930 abnormality pulmonary vasculature +HP:0004931 arteries artery cerebral hardened small wall +HP:0004931 arteries arteriosclerosis cerebral small +HP:0004933 a aortic dissection type +HP:0004933 aortic ascending dissection +HP:0001371 contractures flexion joints +HP:0001371 contractures joint +HP:0001371 contractures +HP:0001371 contracture joint +HP:0001371 contracture flexion +HP:0001371 contracture +HP:0001371 contractures flexion +HP:0001370 arthritis rheumatoid +HP:0001373 dislocation joint +HP:0001373 dislocations joint recurrent +HP:0001373 dislocations joint +HP:0001374 dislocation hips +HP:0001374 dislocations hip +HP:0001374 anomaly hip +HP:0001374 birth dislocated hip since +HP:0001374 dislocation hip +HP:0001377 decreased elbow extension +HP:0001377 elbow extension limitation +HP:0001377 at elbows extension limited +HP:0001377 extension forearm limited +HP:0001377 elbow extension limited +HP:0001377 elbow extension restricted +HP:0001376 joint limitation mobility +HP:0001376 decreased joint mobility +HP:0001376 joint limited motion +HP:0001376 decreased joints mobility +HP:0001376 joint limited mobility +HP:0031366 neoplasm palate +HP:0005186 hypertrophy synovial +HP:0005187 destruction joint progressive +HP:0005184 interval prolonged qtc +HP:0000357 defect ear external position +HP:0000357 abnormal ears location +HP:0000350 decreased face frontal region size +HP:0000350 forehead hypoplasia +HP:0000350 forehead small +HP:0000350 decreased forehead size +HP:0000350 forehead hypotrophic +HP:0005183 lymphangiectasia pericardial +HP:0005180 insufficiency tricuspid +HP:0005180 regurgitation tricuspid +HP:0005180 regurgitation tricuspid valve +HP:0005181 artery atherosclerosis coronary premature +HP:0005181 artery coronary disease premature +HP:0008163 cortisol low plasma +HP:0008163 cortisol decreased production +HP:0008163 blood cortisol level low +HP:0008163 circulating cortisol decreased level +HP:0008163 hypocortisolemia +HP:0008163 glucocorticoid insufficiency +HP:0008163 hypocortisolism +HP:0008163 cortisol low plasma to undetectable +HP:0008162 asymptomatic hyperammonemia +HP:0008161 absent alkaline leukocyte phosphatase +HP:0008160 3 aciduria hydroxydicarboxylic +HP:0008167 accumulation acid chain fatty long very +HP:0008166 beta blood cells deficiency fibroblasts galactosidase white +HP:0008166 activity beta decreased galactosidase +HP:0008166 1 beta deficiency galactosidase +HP:0008165 cells circulating decreased helper proportion t +HP:0009261 4th absent epiphysis finger phalanx proximal +HP:0009261 absent bone end finger innermost part ring +HP:0500069 ectropion paralytic +HP:0004859 amegakaryocytic thrombocytopenia +HP:0009573 2nd finger middle patchy phalanx sclerosis +HP:0009573 bone density finger increase index middle uneven +HP:0004852 alkaline leukocyte low phosphatase +HP:0004852 alkaline leukocyte phosphatase reduced +HP:0004851 anemia folate megaloblastic responsive +HP:0004850 blood clot deep recurrent vein +HP:0004850 recurrent thrombosis venous +HP:0004850 deep recurrent thrombosis vein +HP:0004857 anemia hyperchromic macrocytic +HP:0004856 anemia microcytic normochromic +HP:0004855 activity protein reduced s +HP:0004855 deficiency protein s +HP:0004854 intermittent thrombocytopenia +HP:0011895 anaemia cells due life red reduced span to +HP:0011895 anemia cells due life red reduced span to +HP:0003067 deformity madelung wrist +HP:0003067 deformity madelung +HP:0030854 scleral staphyloma +HP:0030854 staphyloma +HP:0030855 anterior staphyloma +HP:0030856 posterior staphyloma +HP:0030857 eye induced movement pain +HP:0001511 growth onset prenatal retardation +HP:0001511 age for gestational infant small +HP:0001511 growth intrauterine retardation +HP:0001511 growth prenatal retardation +HP:0001511 intrauterine retardation +HP:0001511 failure growth prenatal +HP:0001511 growth intrauterine iugr retardation +HP:0001511 growth intrauterine restriction +HP:0001511 growth retardation utero +HP:0001511 deficiency growth prenatal +HP:0001511 failure growth intrauterine +HP:0001510 growth poor very +HP:0001510 deficiency growth +HP:0001510 failure growth +HP:0001510 growth retardation +HP:0001510 delayed growth +HP:0001510 delay growth +HP:0001510 growth poor +HP:0001510 growth retarded +HP:0001513 obesity +HP:0001513 body fat having much too +HP:0030853 heterotaxia +HP:0030853 heterotaxy +HP:0001519 disproportionate stature tall +HP:0001519 dolichostenomelia +HP:0001519 habitus marfanoid +HP:0001519 lower ratio reduced segment upper +HP:0001519 body habitus marfanoid +HP:0001518 age for gestational small +HP:0001518 10th birth less percentile than weight +HP:0001518 birth low weight +HP:0025575 abnormal cava morphology superior vena +HP:0100698 neurofibromas subcutaneous +HP:0100699 scarring +HP:0100699 scar tissue +HP:0100697 neurofibrosarcoma +HP:0100697 malignant nerve peripheral sheath tumor +HP:0100697 neurosarcoma +HP:0100697 malignant schwannoma +HP:0008297 hyperphenylalaninemia transient +HP:0100695 lipedema +HP:0008291 acth adenoma pituitary producing +HP:0008291 adenoma corticotropin pituitary secreting +HP:0008291 adenoma cell corticotropic pituitary +HP:0008290 complement deficiency factor h partial +HP:0008293 aciduria chain dicarboxylic long +HP:0100691 abnormality cornea curvature +HP:0040198 cancer nonmedullary thyroid +HP:0040198 carcinoma nonmedullary thyroid +HP:0040198 carcinoma medullary non thyroid +HP:0004589 dysplasia lumbar second vertebra +HP:0005311 agenesis pulmonary vessels +HP:0005311 absent lung vessels +HP:0040192 amine decarboxylation precursor tumours uptake +HP:0040192 apudoma +HP:0040190 scaly skin white +HP:0040190 scaling skin white +HP:0004586 fish vertebrae +HP:0004586 biconcave vertebrae +HP:0004586 bodies scalloping vertebral +HP:0004586 biconcave bodies vertebral +HP:0004586 codfish vertebrae +HP:0004586 biconcave codfish vertebrae +HP:0004581 anterior height increased vertebral +HP:0004580 anterior bodies scalloping vertebral +HP:0040194 circumference head increased +HP:0004582 bodies irregularity vertebral +HP:0011899 hyperfibrinogenemia +HP:0011898 abnormality circulating fibrinogen +HP:0040228 hypoplasminogenemia +HP:0040228 decreased level plasminogen +HP:0040229 3 bdca +HP:0040229 decreased level thrombomodulin +HP:0040224 abnormality fibrinolytic system +HP:0040224 abnormality fibrinolysis +HP:0040225 decrease factor high molecular multimers von weight willebrand +HP:0040225 decrease hmw multimers vwf +HP:0040226 co decreased factor heparin ii level +HP:0040226 co deficiency factor heparin ii +HP:0040227 decreased glycoprotein histidine level rich +HP:0040220 abnormal dental root size +HP:0040221 dental hypoplasia root +HP:0040222 maternal thrombophilia +HP:0040223 hemorrhage intrapulmonary +HP:0040223 hemorrhage pulmonary +HP:0003063 abnormality humeri +HP:0003063 abnormality humerus +HP:0012271 airway episodic obstruction upper +HP:0005458 bregma closure premature sutures +HP:0005458 bregma closure early sutures +HP:0005458 closure fontanelles premature +HP:0005458 closure cranial premature sutures +HP:0005458 closure early fontanelles +HP:0005458 closure cranial early sutures +HP:0005458 fontanelles obliterated +HP:0000139 prolapse uterine +HP:0000139 sagging uterus +HP:0005328 appearance facial progeroid +HP:0005328 aged face prematurely +HP:0005328 aged appearance facial prematurely +HP:0005328 aged appearance facial +HP:0005328 face wizened +HP:0005328 aged appearance premature +HP:0005329 expression facial unchanging +HP:0005329 expression facial fixed +HP:0010610 palmar pits +HP:0010612 pits plantar +HP:0005450 calvarial osteosclerosis +HP:0005451 base cranial decreased ossification +HP:0000132 menorrhagia +HP:0000132 abnormally bleeding during heavy menstruation +HP:0000132 hypermenorrhea +HP:0000133 dysgenesis gonadal +HP:0000133 dysgenesis gonadal pure +HP:0000133 dysgenesis gonadal mixed +HP:0000134 female hypogonadism +HP:0000135 hypogonadism +HP:0000135 activity decreased gonads +HP:0000136 bifid uterus +HP:0005325 extending eyebrow growth hair hairline lateral on temples to unusual with +HP:0005325 extension eyebrow growth hair lateral on temples to +HP:0003449 cold cramps induced muscle +HP:0004328 abnormality anterior eye segment +HP:0004328 abnormal anterior morphology segment +HP:0004328 abnormality anterior globe segment +HP:0004328 abnormality anterior eyeball segment +HP:0004328 abnormal anterior eye morphology segment +HP:0003119 abnormality lipid metabolism +HP:0003119 dyslipidemia +HP:0003118 cushing syndrome +HP:0003118 hypercortisolism +HP:0003118 circulating cortisol increased level +HP:0003118 cortisol increased production +HP:0004321 bladder fistula +HP:0003440 horizontal sacrum +HP:0003443 decreased nerve size terminals +HP:0004322 body decreased height +HP:0004322 small stature +HP:0004322 short stature +HP:0004322 3rd height less percentile than +HP:0004322 3rd below percentile stature +HP:0003445 changes emg neuropathic +HP:0003445 abnormalities emg neurogenic +HP:0003445 emg findings neurogenic +HP:0003445 changes emg neurogenic +HP:0004324 gain weight +HP:0004324 body increased weight +HP:0004327 abnormal humor morphology vitreous +HP:0004326 syndrome wasting +HP:0004326 cachexia +HP:0002860 cancer cell squamous +HP:0002860 carcinoma cell squamous +HP:0002861 cancer melanoma skin +HP:0002861 melanoma +HP:0002861 malignant melanoma +HP:0002862 bladder carcinoma +HP:0002863 myelodysplasia +HP:0002863 hypoplastic myelodysplasia +HP:0002863 myelodysplastic syndrome +HP:0002864 head neck paragangliomas +HP:0002864 head neck paraganglioma +HP:0002865 cancer medullary thyroid +HP:0002865 carcinoma medullary thyroid +HP:0002866 alae hypoplastic iliac +HP:0002866 iliac small wings +HP:0002866 hypoplastic iliac wing +HP:0002866 hypoplastic iliac wings +HP:0010949 abnormality blood flow umbilical vein +HP:0002868 iliac narrow wings +HP:0002869 flared iliac wing +HP:0002869 flared iliac wings +HP:0010472 abnormality biosynthetic heme pathway +HP:0010473 porphyrinuria +HP:0010474 bladder stones +HP:0010418 2nd bone density increase outermost toe uneven +HP:0010418 2nd distal patchy phalanx sclerosis toe +HP:0010476 absent bladder small +HP:0010476 absent bladder underdeveloped +HP:0010476 aplasia bladder hypoplasia +HP:0010477 aplasia bladder +HP:0010477 absent bladder +HP:0010419 2nd affecting distal phalanx symphalangism toe +HP:0010419 2nd bone fused outermost toe +HP:0031819 hip increased ratio to waist +HP:0031819 increased whr +HP:0031819 hip increased ratio waist +HP:0031818 abnormal hip ratio to waist +HP:0031817 decreased hormone parathyroid serum +HP:0031817 circulating decreased hormone level parathyroid +HP:0031817 circulating decreased level pth +HP:0031817 decreased hormone level parathyroid serum +HP:0031817 decreased pth serum +HP:0011147 absence seizures typical +HP:0011147 absence seizure typical +HP:0031815 abnormal oral physiology +HP:0031814 palilalia +HP:0031813 colonic eosinophilia +HP:0031813 colon eosinophilic infiltration +HP:0031812 nitrituria +HP:0031811 bilirubinuria +HP:0031810 anti antibody ganglioside positivity +HP:0002804 arthrogryposis +HP:0002804 contractures multiple +HP:0002804 arthrogryposis congenita multiplex +HP:0002804 arthrogryposis multiplex +HP:0003803 1 fiber muscle predominance type +HP:0003803 fiber i muscle predominance type +HP:0011144 age cataract posterior related subcapsular +HP:0010412 2nd complete duplication middle partial phalanx toe +HP:0010412 2nd bone duplication middle toe +HP:0010412 2nd duplication middle phalanx toe +HP:0010941 absence bone nasal +HP:0010941 bone development failure nasal +HP:0010941 bone missing nasal +HP:0010941 bone development lack nasal +HP:0010941 aplasia bone nasal +HP:0010941 agenesis bone nasal +HP:0010410 2nd affecting middle phalanx symphalangism toe +HP:0010410 2nd bone fused middle toe +HP:0010943 bowel echogenic fetal +HP:0010943 bowel echogenic +HP:0003928 cortical diaphysis humeral thickening +HP:0010944 abnormality pelvis renal +HP:0003929 diaphysis glass ground humeral opacity +HP:0010945 fetal hydronephrosis mild +HP:0010945 dilatation fetal pelvic renal +HP:0010945 fetal pyelectasis +HP:0003926 abnormality diaphysis humeral +HP:0003926 abnormality arm bone long shaft upper +HP:0011879 decreased glycoprotein ib ix platelet v +HP:0011878 abnormal expression membrane platelet protein +HP:0010946 dilatation pelvis renal +HP:0003927 cortical diaphysis humeral irregularity +HP:0011873 abnormal count platelet +HP:0011872 aggregation impaired induced platelet thrombin +HP:0011871 aggregation impaired induced platelet ristocetin +HP:0010947 abnormality blood ductus flow venosus +HP:0011877 large platelets +HP:0011877 increased mean platelet volume +HP:0011876 abnormal platelet volume +HP:0011875 abnormal platelets shape +HP:0011875 abnormal morphology platelet +HP:0011874 heparin induced thrombocytopenia +HP:0003922 humeral metaphysis spurred +HP:0003922 arm bone long metaphysis spurred upper +HP:0003923 humeral metaphysis square +HP:0003923 arm bone long metaphysis square upper +HP:0002248 hematemesis +HP:0002248 blood vomitting +HP:0002249 melena +HP:0002249 black feces +HP:0002244 abnormality intestine small +HP:0002245 diverticulum meckel +HP:0002246 abnormality duodenum +HP:0002247 atresia duodenal +HP:0002240 hepatomegaly +HP:0002240 enlarged liver +HP:0002242 abnormality intestine +HP:0002242 abnormal intestine morphology +HP:0002242 enteropathy +HP:0002243 enteropathy losing protein +HP:0005263 inflammation stomach +HP:0005263 gastritis +HP:0012119 methemoglobinemia +HP:0012118 carcinoma laryngeal +HP:0012118 cancer laryngeal +HP:0012118 cancer larynx +HP:0012115 inflammation liver +HP:0012115 hepatitis +HP:0012114 carcinoma endometrial +HP:0012117 albumin high +HP:0012117 hyperalbuminemia +HP:0012117 albumin blood high levels +HP:0012117 hyperalbuminaemia +HP:0012116 abnormal albumin level +HP:0012111 abnormality circulating glucocorticoid level +HP:0005261 a bleeding joint within +HP:0005261 haemorrhage joint +HP:0005261 hemorrhage joint +HP:0005261 hemarthroses +HP:0005261 hemarthrosis +HP:0005261 hemorrhage joint spontaneous +HP:0012113 abnormal creatine metabolism +HP:0012113 abnormality creatine metabolism +HP:0012112 abnormality circulating corticosterone level +HP:0011709 atrioventricular dissociation +HP:0011708 2 atrioventricular block mobitz type +HP:0011708 atrioventricular block ii mobitz +HP:0002151 blood increased lactate +HP:0002151 increased lactate serum +HP:0002151 blood higher lactate levels normal than +HP:0011701 atrial chaotic tachycardia +HP:0011701 atrial multifocal tachycardia +HP:0011701 atrial ectopic tachycardia +HP:0000563 bulging cornea +HP:0000563 keratoconus +HP:0000563 conical cornea +HP:0011703 sinus tach +HP:0011703 sinus tachycardia +HP:0011703 sinus tachy +HP:0011702 abnormal electrophysiology node origin sinoatrial +HP:0011705 atrioventricular block degree first +HP:0011704 sick sinus syndrome +HP:0011704 disease node sinoatrial +HP:0011707 atrioventricular block i mobitz +HP:0011707 1 atrioventricular block mobitz type +HP:0011707 block wenckebach +HP:0011706 atrioventricular block degree second +HP:0002153 hyperkalemia +HP:0002153 elevated levels potassium serum +HP:0000561 absent eyelashes +HP:0000561 agenesis eyelashes +HP:0000561 development eyelashes failure +HP:0000561 atrichia eyelashes +HP:0000561 aplasia eyelashes +HP:0002154 hyperglycinaemia +HP:0002154 blood elevated glycine levels +HP:0002154 hyperglycinemia +HP:0002155 increased levels plasma tg +HP:0002155 increased triglycerides +HP:0002155 hypertriglyceridemia +HP:0002155 increased serum triglycerides +HP:0002155 increased plasma triglycerides +HP:0002155 circulating increased levels tg +HP:0002156 high homocystine levels urine +HP:0002156 homocystinuria +HP:0002157 azotemia +HP:0002157 azotaemia +HP:0030036 isothenuria +HP:0030037 bifid ureter +HP:0030034 basement diffuse glomerular lamellation membrane +HP:0030035 nephrolithiasis struvite +HP:0030035 kidney stones struvite +HP:0030032 absence foot partial +HP:0030033 finger small +HP:0030030 absent ray +HP:0030031 small toe +HP:0007210 amyotrophy limb lower +HP:0007747 horizontal monocular nystagmus +HP:0007215 hyperkalemic paralysis periodic +HP:0030038 enchondroma +HP:0030039 fused thoracic vertebrae +HP:0100335 cleft lip midline non upper +HP:0100335 cleft lip paramedian upper +HP:0100335 cleft lip midline non +HP:0100334 palatoschisis unilateral +HP:0100334 cleft palate unilateral +HP:0100334 cleft one palate sided +HP:0100337 bilateral palatoschisis +HP:0100337 cleft left palate right +HP:0100337 bilateral cleft palate +HP:0100336 cleft left lip right +HP:0100336 bilateral cleft lip +HP:0100336 both cleft lip sided +HP:0100336 bilateral cheiloschisis +HP:0100333 cleft lip unilateral upper +HP:0100333 cleft lip one sided upper +HP:0100333 cleft lip unilateral +HP:0100333 cheiloschisis unilateral +HP:0025198 cap inflammatory polyp +HP:0025197 digital fibrous reye tumor +HP:0025197 digital fibroma infantile +HP:0025197 body fibromatosis inclusion +HP:0025197 digital fibromatosis infantile +HP:0025196 binding capacity increased iron total +HP:0025195 central diaphragmatic hernia +HP:0025195 central hernia +HP:0025194 diaphragmatic hernia morgagni +HP:0025194 hernia morgagni +HP:0025193 bochdalek hernia +HP:0025193 diaphragmatic hernia posterolateral +HP:0100338 cleft palate paramedian +HP:0100338 cleft midline non palate +HP:0025191 myoclonic segmental seizures +HP:0025190 clonic generalized primary seizures tonic +HP:0025190 clonic focal generalised onset seizures tonic without +HP:0025190 clonic generalised primary seizures tonic +HP:0025190 clonic focal generalized onset seizures tonic without +HP:0025190 clonic generalized primarily seizures tonic +HP:0025190 clonic generalised primarily seizures tonic +HP:0003034 craniodiaphyseal osteosclerosis +HP:0003034 bone density increased long shaft +HP:0003034 diaphyseal osteosclerosis +HP:0003034 diaphyseal sclerosis +HP:0008744 abnormality aryepiglottic fold +HP:0008744 abnormal aryepiglottic folds +HP:0001741 phimosis +HP:0001742 congestion nose +HP:0001742 blockage nasal +HP:0001742 nasal obstruction +HP:0001742 nose stuffy +HP:0001742 nose obstruction +HP:0001742 congestion nasal +HP:0001742 blockage nose +HP:0003037 enlarged joints +HP:0003037 joints prominent +HP:0001744 splenomegaly +HP:0001744 increased size spleen +HP:0001746 asplenia +HP:0001746 absent spleen +HP:0001747 accessory spleen +HP:0001748 accessory multiple spleens +HP:0001748 accessory spleens +HP:0001748 polysplenia +HP:0001748 multiple small spleens +HP:0003003 cancer colon +HP:0030277 abnormal morphology pedicle vertebral +HP:0003031 curved ulna +HP:0003031 bowed ulna +HP:0003031 bone curving forearm inner +HP:0003031 bowing ulnar +HP:0006424 elongated radius +HP:0006426 absent rudimentary tibiae to +HP:0000031 epididymitis +HP:0000746 delusions +HP:0045061 carnitine decreased level liver +HP:0003185 notch sacroiliac short +HP:0003185 notch sacroiliac small +HP:0003185 notches sacroiliac shortened +HP:0045063 ii increased pivka +HP:0045063 absence by ii increased induced k prothrombin vitamin +HP:0007052 abnormalities cerebral matter multifocal white +HP:0000744 frustration low tolerance +HP:0007501 along each finger hyperkeratosis onto palm streaks +HP:0000743 frontal release signs +HP:0000743 frontal reflexes release +HP:0007502 follicular hyperkeratosis +HP:0007502 follicularis hyperkeratosis +HP:0000742 deliberate harm self +HP:0000742 mutilation self +HP:0030447 carcinoma primary skin undifferentiated +HP:0030447 carcinoma neuroendocrine skin +HP:0030447 apudoma cutaneous +HP:0030447 cancer cell merkel skin +HP:0030447 neuroendocrine skin tumor +HP:0030447 anaplastic carcinoma skin +HP:0030447 carcinoma cell primary skin small +HP:0030446 atypical carcinoid pulmonary tumor +HP:0030445 carcinoid lung tumor +HP:0030445 carcinoid pulmonary tumor +HP:0030444 anal margin melanoma +HP:0030443 anal basal carcinoma cell margin +HP:0005517 cell leukemia lymphoma t +HP:0030441 anal disease margin paget s +HP:0030440 anal margin neoplasm +HP:0007504 atrophy diffuse skin slow +HP:0000740 anxiety episodic paroxysmal +HP:0100100 2nd absent bone end outermost part toe +HP:0100100 2nd absent distal epiphysis phalanx toe +HP:0030449 abortion therapeutic +HP:0007057 coordination eye hand poor +HP:0100101 2nd bone bracket end outermost part shaped toe +HP:0100101 2nd bracket distal epiphysis phalanx toe +HP:0007054 hyperreflexia proximally +HP:0009263 bone cone end finger innermost part ring shaped +HP:0009263 4th cone epiphysis finger phalanx proximal shaped +HP:0100107 2nd distal phalanx pseudoepiphysis toe +HP:0006169 3rd 5th decreased fingers mobility +HP:0007407 back excessive fingers hands on skin wrinkling +HP:0007407 dorsum excessive fingers hands on skin wrinkling +HP:0006161 ends metacarpals proximal rounded short with +HP:0006161 bone ends hand innermost long rounded short with +HP:0006160 bones hand irregular long +HP:0006160 irregular metacarpals +HP:0006163 enlarged joints metacarpophalangeal +HP:0006162 interphalangeal joints soft swelling tissue +HP:0006162 hinge joints soft swelling tissue +HP:0006165 all digits proportionate shortening +HP:0007058 cerebral degeneration generalized underdevelopment +HP:0007058 atrophy cerebral generalized hypoplasia +HP:0006167 hinge innermost joints prominent +HP:0006167 interphalangeal joints prominent proximal +HP:0006166 bones cylindrical hand long shaped +HP:0006166 bones metacarpal tubular +HP:0011268 absent tragus +HP:0006536 disease lung obstructive +HP:0009262 bone bracket end finger innermost part ring shaped +HP:0009262 4th bracket epiphysis finger phalanx proximal +HP:0009262 bracket epiphysis finger proximal ring +HP:0011269 notched tragus +HP:0011269 bifid tragus +HP:0011266 degree first microtia +HP:0012664 ejection fraction reduced +HP:0100755 abnormal spit +HP:0100755 abnormality salivation +HP:0000745 lack motivation +HP:0000745 diminished motivation +HP:0005667 odontoideum os +HP:0000830 anterior hypopituitarism +HP:0005665 bone cortices long massively thickened +HP:0000832 hypothyroidism primary +HP:0000835 adrenal gland hypoplasia +HP:0000835 adrenal glands hypoplastic +HP:0000835 adrenal glands small +HP:0000835 adrenal hypoplasia +HP:0000834 adrenal disease gland +HP:0000834 abnormalities adrenal +HP:0000834 abnormality adrenal glands +HP:0005661 osteomyelitis salmonella +HP:0005661 bone infection salmonella +HP:0000836 overactive thyroid +HP:0000836 hyperthyroidism +HP:0000839 dwarfism pituitary +HP:0011262 crimped helix +HP:0011262 helix indented +HP:0011263 facing forward lobe +HP:0011263 earlobe facing forward +HP:0003189 height increased nose +HP:0003189 increased length nose +HP:0003189 height increased nasal +HP:0003189 elongated nose +HP:0003189 long nose +HP:0003189 elongation nasal +HP:0003189 increased length nasal +HP:0010431 phalanx second short toe +HP:0010431 2nd hypoplastic phalanges small toe +HP:0010431 2nd bone short toe +HP:0010431 2nd phalanx short toe +HP:0010287 abnormality glands submaxillary +HP:0010287 abnormality glands submandibular +HP:0010286 abnormality glands salivary +HP:0010286 disease gland salivary +HP:0010286 abnormal gland morphology salivary +HP:0010285 oral synechia +HP:0010285 mouth synechiae +HP:0010285 bands fibrous oral +HP:0010284 gums pigmented +HP:0010284 melanin mucosa oral pigmentation +HP:0010284 gingival melanin pigmentation +HP:0010284 oral pigmentation racial +HP:0010284 color dark gums +HP:0010284 hyperpigmentation mucosa oral +HP:0010284 gingival hyperpigmentation +HP:0010284 hyperpigmentation intra oral +HP:0010282 decreased lip lower volume +HP:0010282 lip lower thin vermilion +HP:0010282 decreased lip lower vermilion volume +HP:0010282 decreased height lip lower vermilion +HP:0010282 border lip lower thin vermilion +HP:0010282 lip lower part red thin +HP:0010282 lip lower thin +HP:0010281 cleft labial lower +HP:0010281 cleft lip lower +HP:0010280 inflammation mouth +HP:0010280 stomatitis +HP:0010280 gingivostomatitis +HP:0012899 handgrip myotonia +HP:0012899 grip myotonia +HP:0003607 4 aciduria hydroxyphenylacetic +HP:0010289 cleft gum ridge +HP:0010289 alveolar cleft process +HP:0010289 gum notch ridge +HP:0010289 alveolar cleft maxilla ridge +HP:0010289 alveolar notch process +HP:0010289 alveolar notch ridge +HP:0010289 alveolar cleft ridge +HP:0010288 abnormality glands sublingual +HP:0031314 artery calcification carotid +HP:0009537 2nd contracture finger flexion +HP:0009537 2nd contractures finger joint +HP:0031316 abnormal morphology myocardium ventricular +HP:0031317 fatty myocardial replacement tissue ventricular +HP:0031317 cardiac fatty infiltration ventricle +HP:0031317 fat infiltration intramyocardial +HP:0031310 artery basilar calcification +HP:0031311 artery calcification cerebral middle +HP:0031313 abdominal aortic calcification +HP:0031318 disarray myofiber +HP:0031318 disarray fiber myocardial +HP:0031319 cardiomyocyte hypertrophy +HP:0031319 cellular hypertrophy myocyte +HP:0004814 anemia bean fava hemolytic induced +HP:0004814 anemia beans fava following hemolytic ingestion +HP:0004813 post purpura transfusion +HP:0004813 post thrombocytopenia transfusion +HP:0004812 acute b leukemia lymphoblastic +HP:0004812 acute b cell leukemia lymphoblastic pre +HP:0500023 absent muscle shoulder +HP:0500023 aplasia muscle shoulder +HP:0009530 bone density end finger increased index innermost part +HP:0009530 2nd epiphysis finger ivory phalanx proximal +HP:0000741 emotion feeling interest lack +HP:0000741 apathy +HP:0100021 cerebral paralysis +HP:0100021 cerebral palsy +HP:0008336 aciduria complex organic +HP:0008335 aminoaciduria renal +HP:0008330 activity factor reduced von willebrand +HP:0008330 activity decreased factor von willebrand +HP:0008331 after creatine exercise increased kinase phospho +HP:0008331 after creatine exercise increased phosphokinase +HP:0008331 after creatine elevated exercise phosphokinase +HP:0008331 after creatine elevated exercise kinase +HP:0008331 after creatine exercise increased kinase +HP:0008331 after creatine elevated exercise kinase phospho +HP:0008338 d deficiency factor functional partial +HP:0008338 complement d deficiency factor functional partial +HP:0008338 adipsin deficiency functional partial +HP:0008339 diaminoaciduria +HP:0009326 bone end finger irregular middle part +HP:0009326 3rd epiphysis finger irregular middle phalanx +HP:0009327 3rd epiphysis finger ivory middle phalanx +HP:0009327 bone density end finger increased middle part +HP:0009324 bone end enlarged finger middle part +HP:0009324 3rd enlarged epiphysis finger middle phalanx +HP:0009325 bone end finger fragmentation middle part +HP:0009325 3rd epiphysis finger fragmentation middle phalanx +HP:0009322 3rd bracket epiphysis finger middle phalanx +HP:0009322 bone bracket end finger middle part shaped +HP:0009323 bone cone end finger middle part shaped +HP:0009323 3rd cone epiphysis finger middle phalanx shaped +HP:0004132 dimpled nose tip +HP:0004132 dimple nasal on tip +HP:0009321 3rd absent epiphysis finger middle phalanx +HP:0009321 absent bone end finger middle part +HP:0009538 2nd contracture distal finger interphalangeal joint +HP:0009328 3rd finger middle phalanx pseudoepiphysis +HP:0009328 finger middle phalanx pseudoepiphyses +HP:0009329 bone end finger middle part small +HP:0009329 3rd epiphysis finger middle phalanx small +HP:0010863 delay language receptive +HP:0010862 delayed development fine motor +HP:0010861 breech incomplete presentation +HP:0010860 breech complete presentation +HP:0010867 dyssynergia +HP:0010866 abdominal anterior defect wall +HP:0010866 abdominal defect wall +HP:0010865 defiant disorder oppositional +HP:0010864 mental retardation severe +HP:0010864 early mental retardation severe +HP:0010864 disability intellectual severe +HP:0010869 asynergia +HP:0010868 dyssynergia ocular +HP:0030812 hypertrophy tonsillar +HP:0030812 hypertrophy large tonsils +HP:0030812 enlarged tonsils +HP:0030812 enlargment tonsils +HP:0000654 amplitude decreased erg +HP:0000654 erg reduced +HP:0000654 decreased electroretinogram response +HP:0000654 absent electroretinogram flattened or +HP:0000654 amplitude decreased electroretinogram +HP:0000654 decreased electroretinogram +HP:0000654 abolished electroretinogram or reduced +HP:0000654 electroretinogram reduced +HP:0000654 amplitudes decreased electroretinogram flash on visual +HP:0000654 adapted amplitude dark decreased electroretinogram light +HP:0000657 absent defective eye horizontal movements or voluntary +HP:0000657 apraxia oculomotor +HP:0000657 apraxia motor ocular +HP:0000656 eyelid out turned +HP:0000656 ectropion +HP:0000656 everted eyelid +HP:0000656 eyelid folded out +HP:0000651 double vision +HP:0000651 diplopia +HP:0000650 abnormal amplitude evoked pattern potentials reversal visual +HP:0000653 eyelashes hypotrichosis +HP:0000653 eyelashes scant +HP:0000653 eyelashes thin +HP:0000653 absence eyelashes partial +HP:0000653 eyelashes sparse +HP:0000653 eyelashes scanty +HP:0000652 coloboma lid lower +HP:0000652 defect eyelid full lower thickness +HP:0000652 cleft eyelid lower +HP:0000652 eyelid lower notched +HP:0000652 coloboma eyelid lower +HP:0030814 orange tonsils +HP:0030814 coloured orange tonsils +HP:0030814 discoloured orange tonsils +HP:0100023 flapping hand recurrent +HP:0000659 anomaly peters +HP:0000658 difficulty eyelids opening +HP:0000658 apraxia eyelid +HP:0030815 lipoma tongue +HP:0003878 bone humerus new periosteal +HP:0003879 arm bone false joint long upper +HP:0003879 humeral pseudarthrosis +HP:0030816 gum recession +HP:0030816 gums receding +HP:0030816 gingival recession +HP:0003870 crumpled humerus +HP:0003870 arm bone crumpled long upper +HP:0003871 arm bone deformed long upper +HP:0003871 deformed humerus +HP:0003872 exostoses humeral +HP:0030817 beaked nails +HP:0003874 humerus varus +HP:0003875 defects humeral lytic +HP:0003875 defects humerus lytic +HP:0003876 humerus osteoporotic +HP:0003877 humeral oval transradiancy +HP:0003877 humerus oval transradiancy +HP:0030209 antibody calcium channel positivity +HP:0030208 acetylcholine antibody positivity receptor +HP:0030205 at emg fibre increased jitter single +HP:0030205 at electromyography fibre increased jitter single +HP:0002365 brainstem hypoplastic +HP:0002365 brainstem hypoplasia +HP:0002365 brainstem underdeveloped +HP:0002365 brainstem small +HP:0002365 brain hypoplastic stem +HP:0030207 chest flail +HP:0030207 paradoxical respiration +HP:0030207 breathing paradoxical +HP:0030206 action compound emg incremental muscle nerve potential repetitive response stimulation to +HP:0030201 acting drugs neuromuscular on response to transmission +HP:0030200 fatiguable limb muscles proximal weakness +HP:0030203 acetylcholine esterase inhibitors muscle response to unfavorable weakness +HP:0030202 acetylcholine esterase favorable inhibitors response to weakness +HP:0007027 formed metencephalon poorly +HP:0100521 neoplasm thymus +HP:0100522 thymoma +HP:0007024 palsy pseudobulbar +HP:0007024 pseudobulbar syndrome +HP:0007024 paralysis pseudobulbar +HP:0007023 antenatal hemorrhage intracerebral +HP:0008742 bar median prominent prostate +HP:0007021 insensitivity pain +HP:0007021 absence pain sensation +HP:0007020 paraplegia progressive spastic +HP:0100528 blastoma pleuropulmonary +HP:0100529 abnormality homeostasis phosphate +HP:0008749 hypoplastic larynx +HP:0008749 hypoplasia laryngeal +HP:0004323 abnormality habitus +HP:0004323 abnormality body weight +HP:0032159 fungal meningitis +HP:0032158 anatomical by infection site unusual +HP:0032157 genital herpes recurrent +HP:0032156 detached skin +HP:0032156 skin sloughing +HP:0032156 detachment skin +HP:0032156 detachment epidermal +HP:0032155 abdominal cramps +HP:0032154 aphthous ulcer +HP:0032154 canker sore +HP:0032153 joint subluxation +HP:0032152 keratosis pilaris +HP:0032151 eosinophilia episodic +HP:0032150 pain paroxysmal rectal +HP:0004417 claudication intermittent +HP:0002478 progressive quadriparesis spastic +HP:0002478 progressive quadriplegia spastic +HP:0100024 conspicuously disposition happy +HP:0100024 aspect happy +HP:0100024 aspect conspicious happy +HP:0002472 cerebral cortex small +HP:0002472 cerebral cortex decreased volume +HP:0002470 ataxia cerebellar nonprogressive +HP:0002476 primitive reflexes +HP:0002476 archaic reflex +HP:0002476 primitive reflex +HP:0002475 meningomyelocele +HP:0002475 bifida cystica spina +HP:0002475 myelomeningocele +HP:0002474 deficit expressive language +HP:0002474 communication delay +HP:0002474 delay expressive language +HP:0002363 abnormality brainstem +HP:0002363 abnormal brainstem shape +HP:0002363 abnormality brainstem morphology +HP:0003308 cervical subluxation +HP:0003309 ovoid thoracolumbar vertebrae +HP:0003309 lumbar ovoid thoracic vertebrae +HP:0025568 abnormal choroidal morphology vasculature +HP:0025569 choroidal polypoidal vasculopathy +HP:0003302 spondylolisthesis +HP:0003302 another backbone compared displacement one to +HP:0003302 backbone slipped +HP:0003302 spondylolithesis +HP:0025567 central chorioretinopathy serous +HP:0003300 bodies oval vertebral +HP:0003300 body bullet vertebral +HP:0003300 bodies ovoid vertebral +HP:0003300 bodies ovoid shaped vertebral +HP:0003300 ovoid vertebrae +HP:0003301 endplates irregular +HP:0003301 endplate irregularity vertebral +HP:0003301 endplate irregularities +HP:0003301 endplate irregularity +HP:0003301 end irregular plates +HP:0003301 end irregularities plate +HP:0003301 irregular plates vertebral +HP:0003301 endplates irregular vertebral +HP:0003306 movement reduced spine +HP:0003306 rigid spine +HP:0003306 rigidity spinal +HP:0003307 hyperlordosis +HP:0003307 lordosis +HP:0003307 prominent swayback +HP:0003304 spondylolysis +HP:0003305 block vertebrae +HP:0002659 bone fragility +HP:0002659 fractures increased tendency to +HP:0002659 fractures increased susceptibility to +HP:0002659 bones broken frequent +HP:0002659 bone fragility increased +HP:0002659 abnormal fractures susceptibility to +HP:0002657 dysplasia spondylometaphyseal +HP:0002656 dysplasia epiphyseal +HP:0002656 abnormal bone development end part +HP:0002655 dysplasia spondyloepiphyseal tarda +HP:0002655 dysplasia spondyloepiphyseal +HP:0002654 dysplasia epiphyseal multiple +HP:0002653 bone pain +HP:0002652 abnormal development skeletal +HP:0002652 dysplasia skeletal +HP:0002651 dysplasia spondyloepimetaphyseal +HP:0002650 curvature spine +HP:0002650 curved spine +HP:0002650 abnormal curving spine +HP:0002650 scoliosis +HP:0002361 degeneration psychomotor +HP:0002361 deterioration psychomotor +HP:0007680 depigmented fundus +HP:0007687 ptosis unilateral +HP:0007687 dropping eyelid one upper +HP:0007686 abnormal function pupillary +HP:0007685 avascularization peripheral retinal +HP:0025415 bulbar stricture urethral +HP:0100784 arteriovenous fistula peripheral +HP:0007688 adapted dark electroretinogram light undetectable +HP:0007688 absent by cone electroretinogram functions rod +HP:0007688 absent cone erg mediated on responses rod +HP:0031552 fibroblast level marker reduced surface +HP:0031553 granulocyte level marker reduced surface +HP:0031550 abnormal cytometry flow rest test +HP:0031551 cell level marker reduced surface +HP:0031556 cd16 granulocyte level reduced +HP:0031557 cd55 fibroblast level reduced +HP:0031554 cd55 granulocyte level reduced +HP:0031555 cd59 granulocyte level reduced +HP:0031558 cd59 fibroblast level reduced +HP:0031559 cd16 fibroblast level reduced +HP:0002360 disturbance sleep +HP:0002360 disturbances sleep +HP:0002360 dysfunction sleep +HP:0002360 difficulty sleeping +HP:0002360 sleeping trouble +HP:0002087 abnormality respiratory tract upper +HP:0002087 issues respiratory tract upper +HP:0006375 dumbbell femur shaped +HP:0006375 dumbbell shaped thighbone +HP:0006376 elbow flexion limited +HP:0006370 calcifications distal epiphyseal ulnar +HP:0006370 distal epiphyseal stippling ulnar +HP:0006371 bone long shaft wide +HP:0006371 bone broad long shaft +HP:0006371 bone broad diaphyses long +HP:0006378 osteolysis patellae +HP:0006379 hypoplasia proximal tibial +HP:0006379 hypopolasia proximal tibial +HP:0007975 horizontal hypometric saccades +HP:0025388 nodule thyroid +HP:0007976 cataract cerulean +HP:0007976 cataracts cerulean +HP:0007971 cataract lamellar +HP:0007970 ptosis +HP:0007970 drooping eyelid upper +HP:0007973 dysgenesis retinal +HP:0007973 dysplasia retinal +HP:0025382 hypodipsia +HP:0025383 dorsocervical fat pad +HP:0025383 buffalo hump +HP:0025380 androstenedione increased serum +HP:0025381 anti antibody pituitary positivity +HP:0007979 evoked gaze horizontal nystagmus +HP:0025387 pill rolling tremor +HP:0025387 pill rolling +HP:0025384 adipose diet resistant subcutaneous tissue +HP:0025385 adipose below diet resistant subcutaneous tissue waist +HP:0006088 1 5 complete cutaneous finger syndactyly +HP:0006088 1 5 fingers webbed +HP:0006089 excessive hands sweating +HP:0006089 hyperhidrosis palmar +HP:0006086 cortices metacarpal thin +HP:0410283 acetaminophen blood positive test +HP:0410283 blood paracetamol positive test +HP:0410283 blood positive test tylenol +HP:0012709 abnormal brain by choline creatine mrs ratio +HP:0012258 abnormal axonemal cilia motile organization respiratory +HP:0012259 absent arms dynein inner outer +HP:0410286 blood moban positive test +HP:0410286 blood molindone positive test +HP:0410285 meconium methadone positive test +HP:0410284 blood norpropoxyphene positive test +HP:0012252 abnormal morphology respiratory system +HP:0012253 abnormal epithelium morphology respiratory +HP:0012250 depression segment st +HP:0012251 elevation segment st +HP:0012704 enlarged space subarachnoid +HP:0012704 spaces subarachnoid widened +HP:0012704 space subarachnoid widened +HP:0012257 absent arms dynein inner +HP:0012254 ewing sarcoma +HP:0012254 ewing s sarcoma +HP:0012255 arm cilia defect dynein motile respiratory +HP:0006886 distal impaired sensation vibration +HP:0006886 decreased distal sense vibration +HP:0006887 disability intellectual progressive +HP:0006887 mental progressive retardation +HP:0006882 hydrocephalus severe +HP:0006880 cerebellar hemangioblastoma +HP:0006880 cerebellar hemangioblastoma sporadic +HP:0006881 demyelination diffuse peripheral +HP:0006888 meningoencephalocele +HP:0006889 borderline disability intellectual +HP:0006889 borderline mental retardation +HP:0011910 all fingers phalanges shortening +HP:0011910 all bones finger shortening +HP:0004955 arterial generalized tortuosity +HP:0004955 arteries generalized twisted +HP:0004955 arterial general tortuosity +HP:0004952 arteriovenous fistulas pulmonary +HP:0004950 arterial peripheral stenosis +HP:0004950 arterial disease occlusive +HP:0004950 arterial disease legs +HP:0004950 disease occlusive vascular +HP:0004950 artery disease occlusive peripheral +HP:0004950 disease peripheral vascular +HP:0004950 artery disease peripheral +HP:0011663 cardiomyopathy right ventricular +HP:0011663 cardiomyopathy esp right ventricular +HP:0001351 jerk locked premyoclonus spikes +HP:0001350 slurred speech +HP:0001357 flat head syndrome +HP:0001357 plagiocephaly +HP:0001357 asymmetry cranium posterior +HP:0001357 head rhomboid shaped +HP:0001357 asymmetry posterior skull +HP:0001357 flattening head +HP:0001357 cranial flattening vault +HP:0001357 rhomboid shaped skull +HP:0001357 plagiocephaly positional +HP:0001357 flat head +HP:0001357 flattening skull +HP:0001357 cranium flattening +HP:0001357 asymmetry head posterior +HP:0001357 deformational plagiocephaly +HP:0001357 cranium rhomboid shaped +HP:0011912 abnormality fossa glenoid +HP:0001355 macrencephaly +HP:0001355 megalencephaly +HP:0004959 aneurysm aorta descending thoracic +HP:0004959 aorta descending dilatation thoracic +HP:0001685 fibrosis myocardial +HP:0001684 atrial defect secundum septal +HP:0001684 atrial defect ostium secundum septal type +HP:0001684 atrial defect ostium secundum septal +HP:0001684 ostium patent secundum +HP:0001686 loss voice +HP:0001686 aphonia +HP:0001681 angina pectoris +HP:0001680 aorta coarctation +HP:0001680 aorta narrowing +HP:0001680 aortic coarctation +HP:0001683 cordis ectopia +HP:0001682 stenosis subaortic +HP:0001682 aortic stenosis subvalvular +HP:0001682 aortic below blood heart narrowing valve vessel +HP:0011666 absent cava right superior vena +HP:0007599 brown generalized pigmentation reticulate +HP:0001688 bradycardia sinus +HP:0011915 calcification cardiovascular +HP:0008108 advanced ossification tarsal +HP:0008108 accelerated ankle bone maturation +HP:0008108 bones ossified precociously tarsal +HP:0008107 between crease first plantar second toes +HP:0011665 broken heart syndrome +HP:0011665 cardiomyopathy takotsubo +HP:0008103 ankle bone delayed maturation +HP:0008103 delayed ossification tarsal +HP:0008102 cavities expanded medullary metatarsals widened with +HP:0500043 eyelid retraction +HP:0500042 hyperopia latent +HP:0500042 hypermetropia latent +HP:0500041 astigmatism myopic +HP:0500040 conjunctival lipodermoid +HP:0500040 conjunctiva dermolipoma +HP:0004839 hereditary pyropoikilocytosis +HP:0004839 pyropoikilocytosis +HP:0009518 2nd epiphysis finger irregular middle phalanx +HP:0009518 bone end finger index irregular long middle part +HP:0500045 collier s sign +HP:0500044 eyelid retraction upper +HP:0004835 microspherocytosis +HP:0009514 2nd bracket epiphysis finger middle phalanx +HP:0009514 bone bracket end finger index long middle part shaped +HP:0009517 bone end finger fragmentation index long middle part +HP:0009517 2nd epiphysis finger fragmentation middle phalanx +HP:0004836 acute leukemia promyelocytic +HP:0004831 disease recurrent thromboembolic +HP:0004831 recurrent thromboembolism +HP:0009510 2nd distal epiphysis finger phalanx small +HP:0009510 bone end finger index outermost part small +HP:0009513 bone end finger index long middle missing part +HP:0009513 absent epiphyses finger index middle phalanx +HP:0009513 2nd absent epiphysis finger middle phalanx +HP:0009512 2nd distal epiphysis finger phalanx triangular +HP:0009512 bone end finger index outermost part triangular +HP:0030788 cerumen impacted +HP:0030789 cerumen excessive +HP:0001539 omphalocele +HP:0001539 omphalocoele +HP:0001538 belly out sticks +HP:0001538 abdomen protuberant +HP:0001538 belly extended +HP:0001538 abdominal protuberance +HP:0001537 hernia umbilical +HP:0001537 hernias umbilical +HP:0030781 acid circulating fatty free increased level +HP:0030782 abnormal interleukin level serum +HP:0030783 6 increased interleukin serum +HP:0001533 build thin +HP:0001533 build slender +HP:0001533 body habitus thin +HP:0001533 asthenic habitus +HP:0030785 cystic hygroma intrathoracic +HP:0030785 cystic lymphangioma thoracic +HP:0030785 cystic lymphangioma mediastinal +HP:0001531 failure first life thrive to year +HP:0001531 failure infancy thrive to +HP:0001531 faltering infancy weight +HP:0001530 growth mild onset postnatal retardation +HP:0001530 deficiency growth mild +HP:0001530 growth mild postnatal retardation +HP:0002932 aldehyde deficiency oxidase +HP:0004540 hypertrichosis universalis +HP:0004540 generalized hypertrichosis +HP:0000311 appearance facial round +HP:0000311 face round +HP:0000311 circular face +HP:0000311 face full round +HP:0000311 facies round +HP:0000311 facial round shape +HP:0000338 face hypomimic +HP:0000338 dull expression facial +HP:0000338 decreased facial movement muscle +HP:0000338 hypomimia +HP:0000338 decreased expressions facial +HP:0000339 facies pugilistic +HP:0000339 appearance facial pugilistic +HP:0000339 appearance boxer facial like +HP:0000336 hypertrophy margins supraorbital +HP:0000336 brow prominent +HP:0000336 hypertrophy ridge supraorbital +HP:0000336 margins prominent supraorbital +HP:0000336 protruding ridge supraorbital +HP:0000336 prominent ridge supraorbital +HP:0000336 hyperostosis supraorbital +HP:0000336 hyperplasia ridge supraorbital +HP:0000336 hyperplasia margins supraorbital +HP:0000336 prominent ridges supraorbital +HP:0000337 bitemporal dimension increased +HP:0000337 forehead increased width +HP:0000337 broad forehead +HP:0000337 bitemporal widening +HP:0000337 forehead wide 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atrophy cerebral diffuse +HP:0012319 abdomen absent pigmentation +HP:0003048 head radial subluxation +HP:0003048 radial subluxation +HP:0012318 neuralgia occipital +HP:0000782 abnormality blade shoulder +HP:0000782 abnormality scapula +HP:0011819 cleft submucous velum +HP:0011819 cleft palate soft submucous +HP:0011819 cleft palate partial soft thickness +HP:0008954 atrophy hand intrinsic muscle +HP:0011815 cephalocele +HP:0011814 hypoxanthine increased urinary +HP:0011817 basal encephalocele +HP:0011816 encephalocele parietal +HP:0011811 impaired topognosis +HP:0011811 impaired localization touch +HP:0011811 impaired localisation touch +HP:0011810 discrimination impaired point two +HP:0011813 cerebral increased lipofuscin +HP:0011812 agraphesthesia +HP:0000400 ears large +HP:0000400 macrotia +HP:0000400 large pinnae +HP:0002226 eyebrow white +HP:0002226 eyebrow grey +HP:0002226 blonde eyebrow +HP:0002226 eyebrow hypopigmented +HP:0002226 depigmented eyebrow +HP:0002226 eyebrow pale 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anomalous connection mixed pulmonary total venous +HP:0011721 anomalous connection infracardiac pulmonary total venous +HP:0011721 3 anomalous connection pulmonary total type venous +HP:0011720 anomalous cardiac connection pulmonary total venous +HP:0011720 2 anomalous connection pulmonary total type venous +HP:0011720 anomalous connection intracardiac pulmonary total venous +HP:0011727 muscle peroneal weakness +HP:0011727 fibularis muscle weakness +HP:0011726 circulation fetal persistent +HP:0011725 atrial chaotic multifocal tachycardia +HP:0011724 anomaly s uhl +HP:0011729 abnormality joint mobility +HP:0011728 clonus elbow +HP:0010650 bone hypoplasia intermaxillary +HP:0010650 bone palate primary small +HP:0010650 premaxillary retrusion +HP:0010650 bone premaxillary retrusion +HP:0010650 premaxilla small +HP:0010650 bone deficiency palate primary +HP:0010650 premaxillary underdevelopment +HP:0010650 bone deficiency premaxillary +HP:0010650 premaxilla underdevelopment +HP:0010650 bone decreased palate primary size +HP:0010650 hypoplasia premaxilla +HP:0010650 bone hypoplasia palate primary +HP:0010650 bone palate primary retrusion +HP:0010650 bone palate primary underdevelopment +HP:0010650 decreased premaxilla size +HP:0009689 enlarged epiphysis thumb +HP:0009689 bone end enlarged long part thumb +HP:0009689 enlarged epiphyses thumb +HP:0009688 cone epiphyses shaped thumb +HP:0009688 cone epiphysis shaped thumb +HP:0009688 bone cone end long part shaped thumb +HP:0010651 abnormality meninges +HP:0010651 abnormal meningeal morphology +HP:0009685 bone epiphysis outermost thumb triangular +HP:0009685 distal epiphysis phalanx thumb triangular +HP:0009685 bone end outermost part thumb triangular +HP:0009684 bone calcifications end outermost part speckled thumb +HP:0009684 distal epiphysis phalanx stippling thumb +HP:0009687 bracket epiphyses thumb +HP:0009687 bone bracket end part shaped thumb +HP:0009686 absent epiphyses thumb +HP:0009686 absent bone end outermost part thumb +HP:0009681 distal epiphysis ivory phalanx thumb +HP:0009681 bone density end increased outermost part thumb +HP:0009680 bone end irregular outermost part thumb +HP:0009680 distal epiphysis irregular phalanx thumb +HP:0009683 bone end outermost part small thumb +HP:0009683 distal epiphysis phalanx small thumb +HP:0006494 absent bones foot underdeveloped +HP:0006494 absent bones foot small +HP:0006494 aplasia bones feet hypoplasia involving +HP:0030018 decreased female libido +HP:0030018 decreased drive female sex +HP:0030019 drive female increased sex +HP:0030019 female increased libido +HP:0012399 pressure ulcer +HP:0012399 pressure sore +HP:0012399 bedsore +HP:0012399 decubitus ulcer +HP:0010653 abnormality cerebri falx +HP:0010653 abnormality cerebral falx +HP:0012393 allergy +HP:0030011 hymen imperforate +HP:0012391 hyporeflexia limbs upper +HP:0012390 anal erosion +HP:0012390 anal fissure +HP:0012397 aortic atherosclerosis +HP:0012397 aorta atherosclerotic changes 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acid binding factor growth insulin labile level like protein reduced subunit +HP:0045046 acid deficiency labile subunit +HP:0045046 acid decreased labile levels subunit +HP:0045045 acylcarnitine elevated levels plasma +HP:0045044 4b complement component deficiency +HP:0045044 c4b complement decreased serum +HP:0045044 c4b deficiency +HP:0045043 c4a complement decreased serum +HP:0045042 c4 complement decreased level serum +HP:0045042 c4 complement decreased serum +HP:0045041 b dehydrogenase lactate level reduced +HP:0045040 abnormal activity dehydrogenase lactate +HP:0045049 abnormal carbon factor for lung monoxide transfer +HP:0045049 abnormal capacity diffusing +HP:0045049 abnormal dlco +HP:0045049 abnormal tlco +HP:0045048 hba2 hemoglobin increased +HP:0001050 plethora +HP:0001723 cardiomyopathy restrictive +HP:3000061 abnormality infra nerve orbital +HP:3000061 abnormality infraorbital nerve +HP:3000060 abnormality artery infraorbital +HP:3000063 abnormality internal jugular vein 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atherosclerotic lesion +HP:0012298 finger long middle phalanx +HP:0012298 bone finger long middle +HP:0000683 gray shade tooth +HP:0000683 enamel greyish +HP:0000683 colored enamel gray tooth +HP:0000683 enamel grayish +HP:0012299 distal finger long phalanx +HP:0012299 bone finger long outermost +HP:0003042 dislocation radiohumeral +HP:0003042 dislocations elbow +HP:0003042 dislocation radiocapitellar +HP:0003042 dislocation ulnohumeral +HP:0003042 dislocation elbow +HP:0003042 dislocations elbows +HP:0007015 coordination gross motor poor +HP:0007015 gross impairment motor +HP:0000819 diabetes mellitus +HP:0000818 disease endocrine system +HP:0000818 abnormality endocrine system +HP:0000813 heart shaped uterus +HP:0000813 bicornuate uterus +HP:0000812 abnormal genitalia internal +HP:0000811 abnormal external genitalia +HP:0000817 contact eye poor +HP:0000816 abnormality cycle krebs metabolism +HP:0000816 abnormality acid citric cycle +HP:0000816 abnormality cycle tricarboxylic 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middle phalanges symphalangism +HP:0009305 bones finger fused middle outermost ring +HP:0004150 3rd abnormality finger +HP:0004150 abnormality finger middle +HP:0004150 3rd abnormal finger morphology +HP:0009307 bone density finger increase middle ring uneven +HP:0009307 4th finger middle patchy phalanx sclerosis +HP:0010805 mouth upturned +HP:0010805 corners mouth upturned +HP:0010805 commisures oral upturned +HP:0010804 lip tented upper vermilion +HP:0010804 mouth tented +HP:0010804 inverted lip shaped upper v +HP:0010804 lip tented upper +HP:0010807 absence lower overlap teeth upper +HP:0010807 bite open +HP:0010807 between bite lower open teeth upper +HP:0010806 lip shaped u upper vermilion +HP:0010806 carp mouth shaped +HP:0010806 carp mouth shaped wide +HP:0010806 carp like mouth +HP:0010806 fish mouth +HP:0010806 carp large mouth shaped +HP:0010801 fold nasolabial shallow +HP:0010801 crease hypoplastic nasolabial +HP:0010801 fold nasolabial underdeveloped +HP:0010801 crease nasolabial underdeveloped +HP:0010801 fold hypoplastic nasolabial +HP:0010801 flat fold nasolabial +HP:0010800 agenesis bow cupid s +HP:0010800 aplasia bow cupid s +HP:0010800 bow cupid development failure s +HP:0010800 bow cupid missing s +HP:0010800 bow cupid lack s +HP:0010800 absent bow cupid s +HP:0000679 taurodont +HP:0000679 taurodontia +HP:0000679 chamber elongated large pulp +HP:0000679 taurodontism +HP:0000678 arch discrepancy mass size tooth +HP:0000678 discrepancy size tooth +HP:0000678 overcrowding teeth +HP:0000678 arch for inadequate length size tooth +HP:0000678 crowding dental +HP:0000678 dental overcrowding +HP:0000678 crowded teeth +HP:0000677 oligodontia +HP:0000677 missing more six teeth than +HP:0000677 development failure more six teeth than +HP:0000677 anodontia partial +HP:0000677 by decreased more number six teeth than +HP:0000676 abnormality incisor +HP:0000675 central incisor macrodontia maxillary permanent +HP:0000675 central incisor increased maxillary 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+HP:0010808 protruding tongue +HP:0010808 prominent tongue +HP:0010808 mouth out sticking tongue +HP:0010808 lingual prominence +HP:0031994 breath bronchial sound +HP:0000670 rotting teeth +HP:0000670 cavities tooth +HP:0000670 caries dental +HP:0000670 carious teeth +HP:0000670 decay dental +HP:0000670 cariosity teeth +HP:0000670 caries frequent +HP:0000670 caries +HP:0000670 decay tooth +HP:0000670 cavities dental +HP:0000670 caries dental early +HP:0003892 absent epiphyseal humeral ossification +HP:0003892 absent epiphyses humeral ossification +HP:0003892 absent arm bone end long maturation part upper +HP:0003893 accelerated arm bone end long maturation part upper +HP:0003893 advanced epiphyses humeral maturation +HP:0003893 advanced epiphysis humeral ossification +HP:0003890 deltoid prominent tuberosities +HP:0003891 abnormality epiphyses humeral +HP:0003891 abnormality arm bone end long part upper +HP:0003891 abnormality epiphysis humeral +HP:0003896 epiphyses humeral irregular +HP:0003896 arm bone end irregular long part upper +HP:0003897 arm bone end irregular long maturation part upper +HP:0003897 epiphyses humeral irregular ossification +HP:0003894 delayed epiphyseal humeral ossification +HP:0003894 delayed epiphyses humeral maturation ossification +HP:0003894 arm bone delayed end long maturation part upper +HP:0003895 arm bone end flattened long part upper +HP:0003895 epiphyses flattened humeral +HP:0003898 arm bone end large long part upper +HP:0003898 epiphyses humeral large +HP:0003899 epiphyses humeral round +HP:0003899 arm bone end long part round upper +HP:0002933 hernia ventral +HP:0003108 glycine high levels urine +HP:0003108 hyperglycinuria +HP:0003108 glycinuria +HP:0030227 accumulation fiber muscle myotilin +HP:0030226 abnormal fiber muscle myotilin +HP:0030225 accumulation desmin fiber muscle +HP:0030225 bodies desmin fiber inclusion muscle reactive +HP:0030224 abnormal desmin fiber muscle +HP:0030223 behaviour perseverative +HP:0030223 perseveration +HP:0030223 behavior perseverative +HP:0030222 agnosia visual +HP:0030221 craving sweet +HP:0030220 behavior inappropriate socially +HP:0030229 accumulation containing fiber muscle protein valosin +HP:0030228 abnormal containing fiber muscle protein valosin +HP:0003099 fibular overgrowth +HP:0003099 bone calf overgrowth +HP:0003093 extension hip limited +HP:0003093 extension hip restricted +HP:0003090 end innermost part small thighbone +HP:0003090 capital epiphysis femoral hypoplasia +HP:0003090 capital epiphyses femoral small +HP:0003090 epiphyses femoral proximal small +HP:0003090 end innermost part thighbone underdevelopment +HP:0003091 changes limb trophic +HP:0003097 femoral hypoplasia +HP:0003097 femur short +HP:0003097 femora hypoplasia +HP:0003097 femurs short +HP:0003097 short thighbone +HP:0003095 infected joint +HP:0003095 arthritis septic +HP:0002419 imaging molar on sign tooth +HP:0002419 molar mri on sign tooth +HP:0002419 molar sign tooth +HP:0002419 brain imaging molar on sign tooth +HP:0002418 abnormality midbrain +HP:0002418 abnormality midbrain morphology +HP:0002418 abnormality mesencephalon +HP:0002418 abnormal midbrain shape +HP:0002415 leukodystrophy +HP:0002415 brain degeneration matter white +HP:0002414 spine split +HP:0002414 bifida spina +HP:0002416 cysts subependymal +HP:0002411 myokymia +HP:0002410 aqueduct stenosis sylvius +HP:0002410 aqueduct stenosis +HP:0002410 aqueductal stenosis +HP:0002410 aqueduct narrowing sylvius +HP:0030937 fibrotic muscularis propria +HP:0030936 malformation muscularis propria +HP:0030936 abnormal layering muscularis propria +HP:0030936 additional circular coat muscle segmental +HP:0030935 abnormality intestinal morphology muscle smooth +HP:0025540 abnormal cell distribution subset t +HP:0003328 abnormal examination hair laboratory +HP:0003329 180 about at axes degrees flattened hair intervals irregular shafts their through twisted +HP:0025546 abnormal concentration corpuscular hemoglobin mean +HP:0025546 abnormal corpuscular haemoglobin mean +HP:0025546 abnormal mch +HP:0025547 concentration corpuscular decreased hemoglobin mean +HP:0025547 decreased mch +HP:0025547 corpuscular decreased haemoglobin mean +HP:0003324 generalized weakness +HP:0003324 generalized muscle weakness +HP:0003324 diffuse muscle weakness +HP:0030425 calcified cyst ovarian +HP:0003326 myalgias +HP:0003326 muscle pain +HP:0003326 ache muscle +HP:0003326 myalgia +HP:0003327 axial muscle weakness +HP:0003320 c1 c2 subluxation +HP:0003321 biconcave flattened vertebrae +HP:0030424 cyst epididymal +HP:0030424 cysts epididymal +HP:0030931 1 4 apgar minute score +HP:0030930 1 3 apgar minute score +HP:0031574 cleft orbital +HP:0031575 3 cleft facial number tessier +HP:0031576 4 cleft facial number tessier +HP:0031577 5 cleft facial number tessier +HP:0031570 0 cleft facial number tessier +HP:0031571 cleft facial paramedian +HP:0031572 1 cleft facial number tessier +HP:0031573 2 cleft facial number tessier +HP:0006316 dental irregular spacing +HP:0006316 irregularly spaced teeth +HP:0006316 dental spacing variability +HP:0006316 between spacing teeth variability +HP:0006315 front one only tooth upper +HP:0006315 central incisor maxillary median solitary syndrome +HP:0006315 central incisor single upper +HP:0006315 central incisor maxillary midline solitary +HP:0006315 central incisor maxillary median single +HP:0006315 central incisor maxillary median solitary +HP:0006315 front midline single tooth upper +HP:0006315 central incisor maxillary single +HP:0006315 incisor maxillary midline single +HP:0006315 central incisor single +HP:0006315 incisor median single +HP:0006315 incisor maxillary median single +HP:0031578 6 cleft facial number tessier +HP:0006313 baby spaced teeth widely +HP:0006313 deciduous spaced teeth widely +HP:0006313 between gaps primary teeth wide +HP:0006313 generalized primary spacing teeth +HP:0006313 primary spaced teeth widely +HP:0006313 milk spaced teeth widely +HP:0006313 baby between gaps teeth wide +HP:0006311 all decreased size teeth +HP:0006311 all decreased teeth width +HP:0006311 generalized microdontia +HP:0006311 all hypotrophy teeth +HP:0006311 insufficiency mass tooth +HP:0006311 decreased mass tooth +HP:0003113 hypochloremia +HP:0003113 blood chloride levels low +HP:0012098 dorsum edema feet +HP:0012099 abnormality catecholamine circulating level +HP:0012099 abnormal catecholamine levels +HP:0012090 abnormality morphology pancreas +HP:0012090 abnormal morphology pancreas +HP:0012090 abnormally pancreas shaped +HP:0004389 intestinal obstruction pseudo +HP:0004389 intestinal pseudoobstruction +HP:0012092 abnormality exocrine pancreas physiology +HP:0012092 abnormal exocrine function pancreatic +HP:0012093 abnormality endocrine pancreas physiology +HP:0012094 abnormal pancreas size +HP:0012095 dislocations joint multiple +HP:0012095 dislocation joint multiple +HP:0012096 cyst epidermoid intracranial +HP:0012097 cyst dermoid intracranial +HP:0031688 dysplasia erythroid +HP:0031689 dysmegakaryopoiesis +HP:0031689 dysplasia megakaryocyte +HP:0031686 alpha1 antitrypsin concentration increased stool +HP:0031687 abnormally component heart loud pulmonic second sound +HP:0031687 accentuation component heart pulmonic second sound +HP:0031684 artery atherosclerosis renal +HP:0031685 abnormal composition stool +HP:0031685 abnormal composition feces +HP:0031685 abnormal composition faeces +HP:0031682 atherosclerotic lesion type v +HP:0031683 atherosclerotic lesion type vi +HP:0031680 atherosclerotic ii lesion type +HP:0031681 atherosclerotic iii lesion type +HP:0004388 contrast enema microcolon on +HP:0004388 microcolon +HP:0410053 acid aminobutyric gamma increased level serum +HP:0410053 gaba increased level serum +HP:0003100 bones gracile long thin +HP:0003100 bones gracile long +HP:0003100 bone long slender +HP:0003100 bones long thin +HP:0003100 bones long slender +HP:0003100 bones gracile long slender tubular +HP:0025349 edema limbal +HP:0025610 disease gland meibomian +HP:0025610 dysfunction gland meibomian +HP:0025610 blepharitis posterior +HP:0012278 abnormality metabolism serine +HP:0012279 hyposerinemia +HP:0012279 blood levels low serine +HP:0025347 2 beta circulating level microglobulin reduced +HP:0025347 2 beta circulating decreased level microglobulin +HP:0012276 digital flexor tenosynovitis +HP:0012276 finger trigger +HP:0012277 blood glycine levels low +HP:0012277 hypoglycinemia +HP:0012270 content decreased glycogen muscle +HP:0005863 brachydactyly e type +HP:0012272 ekg j waves +HP:0012272 osborne waves +HP:0012272 j wave +HP:0012273 artery carotid increased intimal medial thickness +HP:0025345 abnormality beta2 circulating level microglobulin +HP:0025345 2 abnormality beta circulating level microglobulin +HP:0025345 abnormality beta2m circulating level +HP:0025345 abnormality b2m circulating level +HP:0025345 abnormality beta2 circulating level m +HP:0000786 amenorrhea primary +HP:0005864 pseudoarthrosis +HP:0005864 pseudoarthroses +HP:0004979 metaphyses sclerotic +HP:0004979 bone density increased long portion wide +HP:0004979 metaphyseal sclerosis +HP:0005867 4th 5th bones fused hand long +HP:0005867 4th 5th fused metacarpals +HP:0005867 fifth fourth fused metacarpals +HP:0004970 aneurysm aortic ascending +HP:0004970 aneurysm aorta ascending tubular +HP:0004970 aorta ascending dilatation +HP:0004970 aorta ascending dilation +HP:0004970 aortic ascending dilation +HP:0004970 above artery bulging heart large located wall +HP:0004971 artery lung underdeveloped +HP:0004971 artery hypoplasia pulmonary +HP:0004971 artery pulmonary underdeveloped +HP:0004972 arterial elevated mean pressure +HP:0005866 opposable thumb triphalangeal +HP:0004974 abdominal aorta coarctation +HP:0004975 deformity erlenmeyer femurs flask +HP:0004975 erlenmeyer femora flask +HP:0004975 erlenmeyer flask shaped thighbone +HP:0004975 deformity distal erlenmeyer femur flask +HP:0004976 dislocation knee +HP:0004976 dislocations knee +HP:0004976 dislocations knees +HP:0004977 aplasia bilateral radial +HP:0004977 absence bilateral radius +HP:0009139 bones involving limbs lower osteolysis +HP:0001339 lissencephaly +HP:0001339 absent brain fewer grooves or +HP:0001338 agenesis callosum complete corpus partial to +HP:0001338 agenesis callosum complete corpus or partial +HP:0001338 agenesis callosum corpus partial total +HP:0001338 agenesis callosum corpus partial +HP:0001335 hand mirror movements +HP:0001335 bimanual synkinesia +HP:0001335 mirror movements +HP:0001334 communicating hydrocephalus +HP:0001337 tremor +HP:0001337 tremors +HP:0001336 jerking +HP:0001336 myoclonus +HP:0001336 involuntary jerking movements +HP:0001336 jerks myoclonic +HP:0001331 absence pellucidum septum +HP:0001331 missing pellucidum septum +HP:0001331 agenesis pellucidum septum +HP:0001331 absent pellucidum septum +HP:0001332 dystonia +HP:0001332 dystonic movements +HP:0001332 disease dystonic +HP:0007408 leishmaniasis susceptibility tegumentary +HP:0100108 2nd bone end outermost part small toe +HP:0100108 2nd distal epiphysis phalanx small toe +HP:0100109 2nd distal epiphysis phalanx stippling toe +HP:0100109 2nd bone calcifications end outermost part speckled toe +HP:0007958 atrophy compression cranial from nerve optic +HP:0007401 atrophy macular +HP:0007400 hyperpigmentation irregular +HP:0007403 hypertrophy skin soles +HP:0007403 skin soles thick +HP:0007402 areas blaschko do follow hyperpigmentation hypopigmentation lines not that +HP:0100106 2nd distal epiphysis ivory phalanx toe +HP:0100106 2nd bone density end increased outermost part toe +HP:0007404 keratoderma nonepidermolytic palmoplantar +HP:0100104 2nd bone end fragmentation outermost part toe +HP:0100104 2nd distal epiphysis fragmentation phalanx toe +HP:0100105 2nd bone end irregular outermost part toe +HP:0100105 2nd distal epiphysis irregular phalanx toe +HP:0008127 bipartite calcaneus +HP:0008127 calcaneal center double ossification +HP:0008127 bipartite calcanei coalescence delayed +HP:0008127 bipartite calcanei delayed fusion +HP:0008127 calcaneal center extra ossification +HP:0008127 calcaneal centers coalescence delayed ossification +HP:0008125 metatarsal placed posteriorly second +HP:0008124 calcaneovarus talipes +HP:0008122 calcaneonavicular fusion +HP:0004817 anemia drug hemolytic sensitive +HP:0500024 aplasia musculature pelvis +HP:0009535 absent finger index +HP:0009535 absent finger index phalanges +HP:0009535 2nd aplasia finger +HP:0009535 aplasia finger index +HP:0500026 hypoplasia musculature pelvis +HP:0500021 acid aminobutyric brain by gamma level mrs reduced +HP:0500020 abnormal biomarker cardiac test +HP:0009531 2nd finger phalanx proximal pseudoepiphysis +HP:0004810 anemia hypoplastic +HP:0004810 anemia dyserythropoietic +HP:0500028 cotton plaques wool +HP:0004819 anemia hypoplastic normocytic +HP:0004818 hemoglobinuria nocturnal paroxysmal +HP:0004818 haemoglobinuria nocturnal paroxysmal +HP:0030762 mesangiolysis +HP:0030763 amniotic sheet +HP:0030763 amniotic shelf +HP:0030760 fibrosis renal +HP:0030760 fibrosis kidney +HP:0030813 absent tonsils +HP:0030813 hypoplasia tonsillar +HP:0030813 hypoplastic tonsils +HP:0030766 ear pain +HP:0030766 otalgia +HP:0030767 epignathus +HP:0030764 ochronosis +HP:0030765 night terror +HP:0030765 sleep terror +HP:0030765 sleep terrors +HP:0030765 nocturnus pavor +HP:0030818 canal central nail +HP:0030818 dystrophy median nail +HP:0030819 angulation nail upward +HP:0030819 jump nail ski +HP:0030819 nail upslanting +HP:0030769 exencephaly +HP:0011521 deuteranopia +HP:0011521 blind green +HP:0010839 concentration copper increased urinary +HP:0011523 cyst iris +HP:0005143 anomalous aorta artery ascending from origin pulmonary right +HP:0011522 protanopia +HP:0011522 blind red +HP:0005146 calcifications cardiac valves +HP:0005146 calcification cardiac valve +HP:0005147 bidirectional ectopy ventricular +HP:0005144 interventricular septum thickened +HP:0005144 hypertrophy septal ventricular +HP:0005145 artery coronary stenosis +HP:0005145 artery coronary narrowing +HP:0000319 decreased depth philtrum +HP:0000319 philtrum simple +HP:0000319 indistinct philtrum +HP:0000319 flat philtrum +HP:0000319 philtrum smooth +HP:0000319 philtrum shallow +HP:0005148 defects pulmonary valve +HP:0011524 iris melanoma +HP:0040268 ear infections middle recurrent +HP:0040269 eustachian obstruction tube +HP:0040269 blocked eustachian tube +HP:0012431 episodic fatigue +HP:0003665 amyotrophy musculature pelvis +HP:0011527 bulging eye lens +HP:0011527 lentiglobus +HP:0040260 adenoids decreased nasopharyngeal size +HP:0040261 adenoids large +HP:0040261 adenoid hypertrophy +HP:0040261 adenoids increased nasopharyngeal size +HP:0040262 ear glue +HP:0040263 ankylosis jaw +HP:0040263 difficulty mouth opening +HP:0040264 jaw pain +HP:0040265 hypertrophy limb muscle upper +HP:0040266 hypertrophy limb muscle proximal upper +HP:0040267 distal hypertrophy limb muscle upper +HP:0001803 nails pitted +HP:0001803 nail pits +HP:0001803 nail pitting +HP:0001802 absent toenail +HP:0001802 absent anonychia toenails +HP:0001802 absent toenails +HP:0001802 anonychia toenails +HP:0001800 hypoplastic toenails +HP:0001800 toenails underdeveloped +HP:0001807 longitudinal ridging +HP:0001807 nail ridged +HP:0001807 nail ridging +HP:0001807 nails ridged +HP:0001807 grooved nails +HP:0001806 oncholysis +HP:0001806 onycholysis +HP:0001806 detachment nail +HP:0001805 dystrophic nails thickened +HP:0001805 onychogryposis +HP:0001805 nails thickened +HP:0001805 nail thick +HP:0001804 fingernail underdeveloped +HP:0001804 fingernail small +HP:0001804 fingernail hypoplastic +HP:0001809 longitudinal nail splitting +HP:0001809 nail split +HP:0001808 fragile nails +HP:0001808 brittle nails +HP:0010340 4th affecting polydactyly toe +HP:0010333 3rd contracture flexion toe +HP:0010333 3rd contractures joint toe +HP:0010122 big bone calcifications end part speckled toe +HP:0010122 epiphyses hallux stippling +HP:0010123 big bone end part toe triangular +HP:0010123 epiphyses hallux triangular +HP:0010120 hallux pseudoepiphyses +HP:0010121 big bone end part small toe +HP:0010121 epiphyses hallux small +HP:0010126 abnormality big bone end innermost part toe +HP:0010126 abnormality epiphysis hallux phalanx proximal +HP:0010127 absent big bone end innermost part toe +HP:0010127 absent epiphysis hallux phalanx proximal +HP:0010656 abnormality epiphyses mineralisation or ossification +HP:0010656 abnormal epiphyseal ossification +HP:0010656 a abnormal bone end maturation part +HP:0010125 1st abnormality epiphysis metatarsal +HP:0010125 1st abnormality bone end foot long part +HP:0010658 bone changes density mineral patchy +HP:0010659 bone decreased density increased mineral patchy +HP:0010659 bone density mineral patchy variation +HP:0010128 big bone bracket end innermost part shaped toe +HP:0010128 bracket epiphysis hallux phalanx proximal +HP:0010129 big bone cone end innermost part shaped toe +HP:0010129 cone epiphysis hallux phalanx proximal shaped +HP:0010347 2nd aplasia hypoplasia phalanges toe +HP:0010347 2nd absent bones small toe +HP:0010347 2nd absent bones toe underdeveloped +HP:0005494 closure fontanelle posterior premature +HP:0005495 metopic nasal patent root suture to +HP:0005364 infections severe viral +HP:0005365 absent b cells +HP:0005365 b lymphocytopenia severe +HP:0005365 absence b cells +HP:0005490 macrocephaly postnatal +HP:0005363 humoral immunodeficiency +HP:0005360 chickenpox susceptibility to +HP:0004737 global glomerulosclerosis +HP:0010345 5th contractures joint toe +HP:0010345 5th contracture flexion toe +HP:0005498 anterior dimples fontanelles midline over posterior skin +HP:0005368 defective humoral immunity +HP:0005368 abnormality humoral immunity +HP:0005369 complement decreased factor h serum +HP:0003405 axonal diffuse swelling +HP:0004364 abnormality compound homeostasis nitrogen +HP:0004367 abnormality glycoprotein metabolism +HP:0003406 compression nerve peripheral +HP:0003401 paresthesia +HP:0003401 tingling +HP:0003401 feeling needles pins +HP:0003401 paresthesias +HP:0003400 basal bulb formation lamina onion +HP:0003400 basal biopsy bulb formations lamina nerve on onion +HP:0003403 action compound decremental emg muscle nerve potential repetitive response stimulation to +HP:0003403 at decrement emg repetitive stimulation +HP:0003403 cmap decremental emg nerve repetitive response stimulation to +HP:0003402 decreased endplate miniature potentials +HP:0003402 decreased mepp +HP:0003402 endplate miniature potentials small +HP:0003402 currents endplate miniature small +HP:0004369 decreased level purine +HP:0004369 decreased levels purine +HP:0004368 increased level purine +HP:0004368 increased levels purine +HP:0009741 arteries kidney scarring +HP:0009741 nephrosclerosis +HP:0009741 artiries kidney thickening +HP:0000237 anterior fontanelle small +HP:0000237 anterior fontanel small +HP:0000237 fontanel forehead small +HP:0012878 delayed ejaculation +HP:0012878 ejaculation retarded +HP:0012879 ejaculatory incompetence +HP:0012879 anejaculation +HP:0000236 abnormality anterior fontanelle +HP:0000236 abnormality forehead soft spot +HP:0012872 abnormal deferens morphology vas +HP:0012873 absent deferens vas +HP:0012873 absence deferens vas +HP:0012873 absent deferent duct +HP:0012873 absent deferens ductus +HP:0012870 regression syndrome testicular +HP:0012870 testis vanishing +HP:0012871 varicocele +HP:0012871 vaginal varicocele +HP:0012876 ejaculation premature +HP:0000235 abnormality cranial fontanelles or sutures +HP:0012874 abnormal genital male physiology system +HP:0012874 abnormal male physiology reproductive system +HP:0012875 abnormal ejaculation +HP:0002200 pseudobulbar signs +HP:0002200 pseudobulbar symptoms +HP:0000890 clavicles long +HP:0000890 clavicles elongated +HP:0000890 collarbone long +HP:0009292 bone broad finger outermost ring +HP:0009292 bone finger outermost ring wide +HP:0009292 4th broad distal finger phalanx +HP:0005605 au cafe irregular lait large macules margins with +HP:0008250 hypercalcemia infantile +HP:0002202 around fluid lungs +HP:0002202 effusion pleural +HP:0000896 exostoses rib +HP:0011389 abnormality ear functional inner +HP:0002203 paralysis respiratory +HP:0005607 abnormal morphology tracheobronchial +HP:0005607 anomalies tracheobronchial +HP:0002204 artery blood clot lung +HP:0002204 embolism pulmonary +HP:0000894 clavicles hypoplastic +HP:0000894 clavicles underdeveloped +HP:0000894 collarbone short +HP:0000894 clavicles short +HP:0000894 clavicular hypoplasia +HP:0005595 generalized hyperkeratosis +HP:0002757 degree fractures multiple varying +HP:0002757 fractures increased +HP:0002757 fractures frequent +HP:0002757 fracture increased rate +HP:0002757 fractures multiple spontaneous +HP:0002757 fractures recurrent +HP:0002757 fractures multiple +HP:0002206 fibrosis pulmonary +HP:0005257 hypoplasia thoracic +HP:0005257 chest small +HP:0005257 small thorax +HP:0003029 ankles enlargement +HP:0012332 autonomic dysfunction +HP:0012332 abnormal autonomic nervous physiology system +HP:0012332 autonomic dysregulation +HP:0012332 dysautonomia +HP:0011293 central eeg sharp waves with +HP:0011292 eeg occipital sharp waves with +HP:0011291 central eeg sharp slow waves with +HP:0011290 eeg frontal sharp slow waves with +HP:0011297 abnormality fingers or toes +HP:0011297 anomalies digital +HP:0011297 abnormality digit +HP:0011296 eeg sharp temporal waves with +HP:0011295 eeg parietal sharp waves with +HP:0011294 eeg frontal sharp waves with +HP:0011529 bilateral epithelium hypertrophy multiple pigment retinal +HP:0011529 bilateral chrpe multiple +HP:0011528 epithelium hypertrophy pigment retinal solitary +HP:0011528 chrpe isolated single +HP:0011528 epithelium hypertrophy isolated pigment retinal single +HP:0011299 absence finger partial +HP:0011298 digit pad prominent +HP:0011839 abnormality cell number t +HP:0011839 abnormal cell count t +HP:0011839 abnormal cells number t +HP:0011838 sclerodactyly +HP:0002208 coarse hair +HP:0002208 coarse hair texture +HP:0002208 hair rough texture +HP:0002209 hair scalp sparse +HP:0002209 hair scalp thinning +HP:0002209 hair scalp sparse thin +HP:0002209 absent hair scalp sparse +HP:0002209 hair scalp thin +HP:0002758 osteoarthritis +HP:0002758 degenerative disease joint +HP:0012335 abnormality folate metabolism +HP:0000148 atresia vaginal +HP:0000148 abnormally absent closed or vagina +HP:0002752 bone sparse trabeculae +HP:0002753 bony cortex thin +HP:0002753 cortices thin +HP:0002750 delayed maturation skeletal +HP:0002750 delayed development skeletal +HP:0002750 maturation retardation skeletal +HP:0002750 age bone retarded +HP:0002750 ossification retarded +HP:0002750 bone delayed maturation +HP:0002750 age bone delayed +HP:0002750 age before bone delayed puberty +HP:0002751 kyphoscoliosis +HP:0002756 fracture spontaneous +HP:0002756 fractures spontaneous +HP:0002756 fractures pathologic +HP:0002756 fracture pathologic +HP:0002205 infections respiratory susceptibility to +HP:0002205 infections recurrent respiratory +HP:0002205 infections multiple respiratory +HP:0002205 frequent infections respiratory +HP:0002754 osteomyelitis +HP:0002754 bone infection +HP:0002207 diffuse finely infiltrations nodular or reticular +HP:0031483 apex contraction left reduced ventricular +HP:0005255 aplasia minor pectoralis +HP:0005255 absence minor muscle pectoralis +HP:0008462 cervical instability +HP:0008463 central hypoplasia vertebral +HP:0008460 hypoplastic processes spinal +HP:0008460 processes spinal underdeveloped +HP:0008461 cervical facet hypoplasia vertebral +HP:0008467 hemivertebrae thoracic +HP:0008467 hemivertebrae midthoracic +HP:0008464 absent lower lumbar processes spinous thoracic vertebrae +HP:0100488 1st hallux metatarsal phalanx proximal synostosis with +HP:0100488 1st big bone foot fusion innermost long toe with +HP:0100487 bone little outermost shaped toe triangular +HP:0100487 5th distal phalanx shaped toe triangular +HP:0100487 bone outermost pinky shaped toe triangular +HP:0100487 bone outermost pinkie shaped toe triangular +HP:0100486 5th metatarsal phalanx proximal symphalangism toe with +HP:0100486 5th bone foot fused innermost long pinky toe with +HP:0100485 4th metatarsal phalanx proximal symphalangism toe with +HP:0100485 4th bone foot fused innermost long toe with +HP:0008469 cervical dysplasia vertebral +HP:0100483 2nd metatarsal phalanx proximal symphalangism toe with +HP:0100483 2nd bone foot fused innermost long toe with +HP:0006516 hypersensitivity pneumonitis +HP:0100481 4th middle phalanges proximal symphalangism toe +HP:0100481 4th bones fused innermost middle toe +HP:0100481 4th middle proximal symphalangism toe +HP:0100480 3rd middle proximal symphalangism toe +HP:0100480 3rd middle phalanges proximal symphalangism toe +HP:0100480 3rd bones fused innermost middle toe +HP:0011745 adenoma adrenocortical non secretory +HP:0011745 adenoma adrenal non secretory +HP:0011744 hypercortisolism secondary +HP:0011744 acth dependent hypercortisolemia +HP:0011747 disease pituitary +HP:0011747 abnormality anterior pituitary +HP:0011746 adenoma adrenal secretory +HP:0011746 adenoma adrenocortical secretory +HP:0011741 hyperaldosteronism secondary +HP:0011741 hyperaldosteronism hyperreninemic +HP:0011740 glucocortocoid hyperaldosteronism insensitive primary +HP:0011740 2 familial hyperaldosteronism primary type +HP:0011743 adrenal agenesis gland +HP:0011742 adrenal ectopic gland +HP:0011742 abnormal adrenal gland position +HP:0032052 cortical dysplasia focal iia type +HP:0032053 cortical dysplasia focal iib type +HP:0032050 cortical dysplasia focal ic type +HP:0032051 cortical dysplasia focal ii type +HP:0032056 cortical dysplasia focal iiib type +HP:0005423 alternative complement dysfunctional pathway +HP:0032054 cortical dysplasia focal iii type +HP:0032055 cortical dysplasia focal iiia type +HP:0005422 absence cd8 cells positive t +HP:0005422 absence cd8 cells t +HP:0005425 infections lung recurrent sinus +HP:0005425 infections recurrent sinopulmonary +HP:0005425 chronic infection sinopulmonary +HP:0006213 broad epiphyses phalanges proximal thin with +HP:0006213 broad epiphyses hand phalanges proximal thin with +HP:0006213 bone broad end hand innermost part thin with +HP:0000144 decreased fertility +HP:0000144 abnormal fertility +HP:0007827 corneal dystrophy nodular +HP:0000147 disease ovary polycystic +HP:0000147 ovaries polycystic +HP:0000147 ovaries sclerocystic +HP:0000147 ovary polycystic +HP:0008830 hypoplastic pubic rami +HP:0008833 acetabular irregular roof +HP:0025159 autofluorescent hypo lesion retinal +HP:0025159 hypoautofluorescent lesion retinal +HP:0100031 gland neoplasia thyroid +HP:0100031 gland neoplasm thyroid +HP:0100489 2nd bones fused innermost middle toe +HP:0100489 2nd middle proximal symphalangism toe +HP:0100489 2nd middle phalanges proximal symphalangism toe +HP:0025152 age behavior for poor visual +HP:0025152 abnormal age behavior for visual +HP:0025152 age behaviour for poor visual +HP:0025152 abnormal age behaviour for visual +HP:0025151 ganglioneuromatosis +HP:0008465 absent vertebrae +HP:0008465 absent vertebra +HP:0025157 increased sedoheptulose urinary +HP:0025156 dependency intravenous nutrition on +HP:0025155 abnormality hepatobiliary physiology system +HP:0025154 biliary circulation collateral +HP:0025154 collateral portosystemic veins +HP:0025154 biliary collateral veins +HP:0025485 adenosis vaginal +HP:0025484 circulating increased level thyroglobulin +HP:0025487 abnormality bladder morphology +HP:0025486 fused labia majora +HP:0025481 cervical hemivertebrae +HP:0025480 lipomyelomeningocele +HP:0025483 abnormal circulating level thyroglobulin +HP:0025482 discharge perchlorate positive test +HP:0007820 atretic lacrimal puncta +HP:0007820 atretic lacrimal punctum +HP:0007820 atresia lacrimal punctal +HP:0025489 bladder duplication +HP:0008468 abnormal sacral segmentation +HP:0100484 3rd metatarsal phalanx proximal symphalangism toe with +HP:0100484 3rd bone bones foot fused innermost long third toe with +HP:0011318 bicoronal synostosis +HP:0011318 bilateral coronal craniosynostosis suture +HP:0011318 bilateral coronal craniosynostosis +HP:0011318 bilateral coronal suture synostosis +HP:0011319 bilambdoid synostosis +HP:0011319 bilateral craniosynostosis lambdoid +HP:0011319 bilateral lambdoid suture synostosis +HP:0100482 5th middle proximal symphalangism toe +HP:0100482 bones fused innermost middle pinkie toe +HP:0100482 5th middle phalanges proximal symphalangism toe +HP:0100482 bones fused innermost middle pinky toe +HP:0100482 bones fused innermost little middle toe +HP:0011316 left synostosis unicoronal +HP:0011317 right synostosis unicoronal +HP:0011314 abnormality bones tubular +HP:0011314 abnormality bone long morphology +HP:0011314 abnormal bone long shape +HP:0011315 synostosis unicoronal +HP:0011315 coronal suture synostosis unilateral +HP:0011315 coronal craniosynostosis unilateral +HP:0011315 coronal craniosynostosis suture unilateral +HP:0005968 body instability temperature +HP:0005968 instability temperature +HP:0025531 harlequin phenomenon +HP:0005964 hypothermia intermittent +HP:0005964 abnormally body intermittent low temperature +HP:0011312 fused nails +HP:0005967 acidosis metabolic mixed respiratory +HP:0005961 hypoargininemia +HP:0005961 arginine deficiency +HP:0005961 arginine blood levels low +HP:0011313 nail narrow +HP:0032059 cortical development malformation mild +HP:0011310 bridged line palm +HP:0011310 bridged crease palmar +HP:0011310 crease palmar transitional +HP:0011311 crease sydney +HP:0012519 arteries communicating hypoplastic posterior +HP:0012519 artery communicating hypoplastic posterior +HP:0012518 abnormality arterial cerebral circle +HP:0012518 abnormal circle morphology willis +HP:3000049 abnormal artery greater morphology palatine +HP:3000049 abnormality artery greater palatine +HP:3000048 abnormal auricular great morphology nerve +HP:0012511 disc optic pallor temporal +HP:0012510 accumulation axial cerebrospinal extra fluid +HP:3000041 abnormality artery carotid +HP:3000041 artery carotid disorder +HP:3000041 abnormality artery carotid external +HP:0012512 diffuse disc optic pallor +HP:0012515 flexor hip weakness +HP:0010775 ring vascular +HP:0010775 aorta ring vascular +HP:0012517 activity catalase reduced +HP:3000044 abnormality frontal maxilla process +HP:0010774 cor triatriatum +HP:0010774 heart triatrial +HP:0031743 inferior muscle overaction rectus +HP:0031742 inferior muscle rectus underaction +HP:0006439 dislocation radioulnar +HP:0006439 dislocated joints radioulnar +HP:0006438 distal enlargement epiphysis femoral +HP:0006438 distal epiphyses femoral large +HP:0006438 end enlargement outermost part thighbone +HP:0031747 muscle rectus superior underaction +HP:0031746 muscle rectus rescriction superior +HP:0031745 muscle overaction rectus superior +HP:0031744 muscle rectus superior weakness +HP:0006433 dysplastic radii +HP:0006433 deficiency longitudinal radial +HP:0011749 adrenocorticotropic excess hormone +HP:0011749 acth excess +HP:0006431 abnormal innermost portion thighbone wide +HP:0006431 abnormality femoral metaphyseal proximal +HP:0031748 abnormal muscle physiology rectus vertical +HP:0006437 condyle disproportionate femoral medial prominence +HP:0006436 shinbone shortening +HP:0006436 marked shortening tibia +HP:0006436 shankbone shortening +HP:0006436 shortening tibia +HP:0006434 proximal radial shortening +HP:0006434 hypoplasia proximal radius +HP:0006127 bone finger innermost long +HP:0006127 finger long phalanx proximal +HP:0004601 at bifida l5 occulta spina +HP:0006121 acral ulceration +HP:0011547 absent atrioventricular connection left sided +HP:0006129 bones digital drumstick shaped +HP:0006129 drumstick phalanges terminal +HP:0004432 agammaglobulinemia +HP:0004432 agammaglobulinaemia +HP:0009400 4th finger pseudoepiphyses +HP:0000879 hypoplastic sternum +HP:0000879 short sternum +HP:0000878 11 pairs ribs +HP:0000875 episodic hypertension +HP:0000875 blood high intermittent pressure +HP:0000877 at diabetes insulin mellitus puberty resistant +HP:0000876 oligomenorrhea +HP:0000876 infrequent light menstrual or periods +HP:0000871 panhypopituitarism +HP:0000870 hyperprolactinaemia +HP:0000870 excess prolactin +HP:0000870 hyperprolactinemia +HP:0000873 diabetes insipidus +HP:0000872 hashimoto s thyroiditis +HP:0000872 chronic lymphocytic thyroiditis +HP:0000872 hashimoto thyroiditis +HP:0025353 anti antibodies mnd +HP:0025353 anti antibody dots multiple nuclear positivity +HP:0006778 benign genitourinary neoplasm tract +HP:0006778 benign genitourinary tract tumor +HP:0006779 alveolar rhabdomyosarcoma +HP:0031350 cardiac sarcoma +HP:0031351 amorphous calcified heart tumour +HP:0031351 amorphous calcified heart tumor +HP:0031352 chest tightness +HP:0200030 lesions punctate skin vasculitis +HP:0031354 insomnia onset sleep +HP:0031355 insomnia maintenance +HP:0031356 insomnia terminal +HP:0031356 insomnia late +HP:0031357 glomeruloid hemangioma +HP:0031358 state vegetative +HP:0031152 full hole macular thickness +HP:0031153 membranous vitreous +HP:0031153 anomaly membranous +HP:0031153 appearance membranous vitreous +HP:0031153 membranous phenotype vitreous +HP:0009498 end finger index part triangular +HP:0009498 2nd epiphyses finger triangular +HP:0009499 2nd abnormality distal epiphysis finger phalanx +HP:0009499 abnormality epiphyseal finger index phalanx terminal +HP:0009499 abnormality bone end finger index outermost part +HP:0031150 adhesion vitreomacular +HP:0009490 cone end finger index part shaped +HP:0009490 2nd cone epiphyses finger shaped +HP:0009491 2nd enlarged epiphyses finger +HP:0009491 end enlarged finger index part +HP:0009492 2nd epiphyses finger fragmentation +HP:0009492 end finger fragmentation index part +HP:0009493 2nd epiphyses finger irregular +HP:0009493 end finger index irregular part +HP:0009494 2nd epiphyses finger ivory +HP:0009494 bone density end finger increased index part +HP:0009495 accessory finger index phalanges +HP:0009495 2nd finger pseudoepiphyses +HP:0009496 2nd epiphyses finger small +HP:0009496 end finger index part small +HP:0009497 calcifications end finger index part speckled +HP:0009497 2nd epiphyses finger stippling +HP:0040097 adenoma ceruminous gland +HP:0040097 adenoma ceruminous +HP:0040097 ceruminoma +HP:0040097 ceruminal gland neoplasm +HP:0040096 ear inner neoplasm +HP:0040096 ear inner tumor +HP:0040095 ear neoplasm outer +HP:0040095 ear outer tumor +HP:0040093 asymmetry ears position +HP:0040093 ears uneven +HP:0040092 asymmetry ears shape +HP:0040091 asymmetry ears size +HP:0040090 abnormality membrane tympanic +HP:0040090 abnormality eardrum +HP:0001473 bones involving metatarsal osteolysis +HP:0001473 metatarsal osteolysis +HP:0001471 absent muscles pelvis small +HP:0001471 aplasia hypoplasia musculature pelvis +HP:0001471 absent muscles pelvis underdeveloped +HP:0001476 closure late on skull soft spot +HP:0001476 closure delayed on skull soft spot +HP:0001476 anterior closure fontanelle late +HP:0001476 anterior closure delayed fontanel +HP:0001476 anterior closure fontanel large late +HP:0001476 anterior closure delayed fontanelle +HP:0001476 bregma closure late sutures +HP:0001476 bregma closure delayed sutures +HP:0001476 closing later skull soft spot than typical +HP:0001476 anterior fontanelle persistent +HP:0001477 chin compensatory elevation head tilt +HP:0001477 chin compensatory elevation +HP:0040099 abnormality round window +HP:0040098 basalioma ear outer +HP:0100712 abnormality lumbar spine +HP:0005773 forearm short +HP:0005772 absent shankbone underdeveloped +HP:0005772 absent shinbone underdeveloped +HP:0005772 absent hypoplastic tibia +HP:0005772 absent shinbone small +HP:0005772 aplastic hypoplastic tibia +HP:0005772 absent shankbone small +HP:0005772 aplasia hypoplasia tibia +HP:0005775 anomalies multiple skeletal +HP:0005776 bone carpal malsegmentation +HP:0011546 abnormal atrioventricular connection +HP:0004172 abnormal bone finger middle +HP:0004172 3rd abnormality finger middle phalanx +HP:0004366 abnormality glycolysis +HP:0001297 cerebral events vascular +HP:0001297 stroke +HP:0001297 accidents cerebrovascular +HP:0001297 accident cerebrovascular +HP:0030599 abnormal estermann grid perimetry test +HP:0030598 10 2 abnormal humphrey perimetry sita test +HP:0030591 abnormal kinetic perimetry test +HP:0030590 abnormal amsler grid test +HP:0030593 abnormal kinetic manual perimetry test +HP:0030592 abnormal perimetry static test +HP:0030595 abnormal automated perimetry static test +HP:0030594 abnormal automated kinetic perimetry test +HP:0030597 2 24 abnormal humphrey perimetry sita test +HP:0030596 2 30 abnormal humphrey perimetry sita test +HP:0000691 small teeth +HP:0000691 hypotrophic tooth +HP:0000691 decreased size tooth +HP:0000691 small tooth +HP:0000691 decreased tooth width +HP:0000691 microdontia +HP:0000690 incisor lateral missing upper +HP:0000690 agenesis incisor lateral maxillary +HP:0000690 absence incisor lateral maxillary +HP:0000690 development failure incisor lateral maxillary +HP:0000690 incisor lateral maxillary missing +HP:0000690 absence incisor lateral upper +HP:0000690 absent incisors lateral upper +HP:0000692 malaligned teeth +HP:0000692 malpositioned teeth +HP:0000692 abnormality alignment teeth +HP:0000692 abnormality spacing teeth +HP:0000692 abnormal dental position +HP:0000692 misalignment teeth +HP:0000692 abnormality position teeth +HP:0000692 crooked teeth +HP:0000692 malposition teeth +HP:0000692 abnormal spacing teeth +HP:0000695 natal teeth +HP:0000695 neonatal teeth +HP:0000695 natal tooth +HP:0000695 born teeth with +HP:0000695 at birth present teeth +HP:0000694 dentinal dysplasia teeth with +HP:0000694 shell teeth +HP:0000694 chambers dentin large pulp teeth thin with +HP:0000694 dentinogenesis iii imperfecta teeth type with +HP:0004361 abnormality circulating leptin level +HP:0000696 delayed eruption secondary teeth +HP:0000696 adult delayed eruption teeth +HP:0000696 delayed dentition eruption secondary +HP:0000696 delayed eruption permanent teeth +HP:0000696 delayed dentition permanent +HP:0000699 dental diastasis +HP:0000699 diastema +HP:0000699 diastasis teeth +HP:0000699 between gaps teeth +HP:0000699 dental diastema +HP:0000699 diastema teeth +HP:0000699 between gap teeth +HP:0000698 conical tooth +HP:0000698 peg shaped tooth +HP:0000698 conical teeth +HP:0000698 peg shaped teeth +HP:0000698 conoid tooth +HP:0000698 shark tooth +HP:0000698 cone shaped tooth +HP:0000698 pointed tooth +HP:0000698 peg tooth +HP:0011190 bilateral discharges epileptiform multifocal uni +HP:0011191 discharges epileptiform multifocal unilateral +HP:0011192 discharges epileptiform focal polymorphic +HP:0011193 eeg focal spikes with +HP:0011194 eeg focal series spikes with +HP:0011195 eeg focal sharp slow waves with +HP:0011196 eeg focal sharp waves with +HP:0011197 eeg focal spike waves with +HP:0011198 discharges eeg epileptiform generalized with +HP:0011199 eeg generalized sharp slow waves with +HP:0011998 hyperglycemia postprandial +HP:0011999 paranoia +HP:0025150 hypoganglionosis +HP:0002108 collapsed lung spontaneous +HP:0002108 pneumothorax spontaneous +HP:0011990 abnormality neutrophil physiology +HP:0011991 abnormal count neutrophil +HP:0011991 abnormal cell neutrophil number +HP:0011992 abnormality morphology neutrophil +HP:0011993 activity bactericidal impaired neutrophil +HP:0011994 abnormal atrial morphology septum +HP:0011994 abnormal interatrial morphology septum +HP:0011994 abnormality atrial septum +HP:0011995 aneurysm atrial septal +HP:0011995 atrial dilatation septal +HP:0011996 activity elevated factor v +HP:0011996 activity coagulation elevated factor v +HP:0011996 elevated factor plasma v +HP:0011997 hyperlactemia postprandial +HP:0003184 abduction decreased hip +HP:0003184 abduction hip limited +HP:0002921 abnormality cerebrospinal fluid +HP:0002921 abnormal csf findings +HP:0002921 abnormality csf +HP:0002436 meningocele occipital +HP:0002435 meningocele +HP:0002922 cerebrospinal elevated fluid protein +HP:0002922 cerebrospinal fluid increased protein +HP:0002922 elevated fluid protein spinal +HP:0002922 csf elevated protein +HP:0002922 hyperproteinorrhachia +HP:0002922 cerebrospinal fluid increased protein with +HP:0002922 csf increased protein +HP:0002925 increased level thyrotropin +HP:0002925 excess hormone stimulating thyroid +HP:0002925 hormone increased serum stimulating thyroid +HP:0002925 elevated hormone levels stimulating thyroid +HP:0002925 elevated hormone stimulating thyroid +HP:0002925 hormone increased stimulating thyroid +HP:0002925 high tsh +HP:0002925 hormone increased level stimulating thyroid +HP:0002925 excess tsh +HP:0010829 abnormality sensation temperature +HP:0010829 impaired sensation temperature +HP:0010829 loss sensation temperature +HP:0010828 hemifacial spasms +HP:0010828 hemifacial spasm +HP:0010828 face on one side spasms +HP:0002929 cell gonadotropin insensitivity leydig to +HP:0002928 activity complex decreased pdh +HP:0002928 complex deficiency dehydrogenase pyruvate +HP:0002928 activity complex decreased dehydrogenase pyruvate +HP:0010353 2nd affecting phalanges symphalangism toe +HP:0010353 2nd bones fused toe +HP:0010352 2nd patchy phalanx sclerosis toe +HP:0010352 2nd patchy phalanges sclerosis toe +HP:0010352 2nd bone density increase toe uneven +HP:0010355 2nd bones duplication toe +HP:0010355 2nd duplication phalanges toe +HP:0010355 2nd complete duplication partial phalanges toe +HP:0010354 2nd bone shaped toe triangular +HP:0010354 2nd phalanges shaped toe triangular +HP:0010354 bone second shaped toe triangular +HP:0002439 dementia frontolimbic +HP:0002438 cerebellar malformation +HP:0003347 impaired lymphocyte phytohemagglutinin transformation with +HP:0003344 3 aciduria methylglutaric +HP:0003344 3 methylglutaconicaciduria +HP:0003344 3 methylglutaricaciduria +HP:0003345 elevated norepinephrine urinary +HP:0003343 deficiency glutathione synthetase +HP:0003341 junctional split +HP:0003341 blistering cleavage lamina lucida subepidermal with +HP:0003348 hyperalaninemia +HP:0003348 alanine blood increased +HP:0003348 alanine increased serum +HP:0003349 cholesterol esterification low rates +HP:0002699 abnormality foramen magnum +HP:0002693 abnormality base cranial +HP:0002693 abnormality base skull +HP:0002692 facial skeleton small +HP:0002692 bones decreased facial size +HP:0002692 bones facial hypotrophic +HP:0002692 decreased facial size skeleton +HP:0002692 bones facial flattening +HP:0002692 bones facial hypoplastic +HP:0002692 bones facial small +HP:0002692 facial flattening skeleton +HP:0002692 facial skeleton underdevelopment +HP:0002692 facial hypotrophic skeleton +HP:0002692 bones facial underdevelopment +HP:0002692 facial hypoplasia skeleton +HP:0002691 angle basal base increased skull +HP:0002691 base flattening skull +HP:0002691 platybasia +HP:0002691 angle basal base obtuse skull +HP:0002690 big sella turcica +HP:0002690 fossa hyperplasia pituitary +HP:0002690 fossa hyperplasia hypophysial +HP:0002690 fossa hypophysial large +HP:0002690 prominent sella turcica +HP:0002690 enlarged sella turcica +HP:0002690 hyperplasia sella turcica +HP:0002690 fossa large pituitary +HP:0002690 large sella turcica +HP:0002697 bones holes parietal +HP:0002697 bones openings parietal +HP:0002697 foramina parietal +HP:0002697 bones foramina parietal persistent +HP:0002696 abnormality bone parietal +HP:0002696 abnormality bone parietal skull +HP:0002696 abnormal bone morphology parietal +HP:0002695 bone defects oval parietal symmetrical +HP:0002694 base cranial sclerosis +HP:0002694 base sclerosis skull +HP:0002694 base bone dense skull +HP:0002694 base hyperossification skull +HP:0002694 base hypercalcification skull +HP:0002694 base sclerotic skull +HP:0002694 base marked sclerosis skull +HP:0002694 base hypermineralization skull +HP:0002694 base hyperostosis skull +HP:0031518 absent alpha posterior rhythm +HP:0031519 cauliflower collagen deformity dermal fibrils +HP:0031516 arrest at i metaphase oocyte +HP:0031517 verruciform xanthoma +HP:0031514 cells exhausted increased proportion t +HP:0031515 abnormal meiosis +HP:0031512 abnormal collagen cutaneous fibril morphology +HP:0031513 bodies luse +HP:0031510 crease earlobe linear +HP:0031511 crease diagonal earlobe +HP:0006330 front teeth twisted upper +HP:0006330 front rotated teeth upper +HP:0006330 central incisors maxillary rotated +HP:0006330 central incisors rotated upper +HP:0006330 front teeth turned upper +HP:0006332 incisor maxillary supernumerary +HP:0006332 extra front tooth upper +HP:0006333 incisors maxillary overlapped +HP:0006333 crowded incisors maxillary +HP:0006333 crowded incisors upper +HP:0006333 front overlapped teeth upper +HP:0006333 crowded front teeth upper +HP:0006334 deciduous decreased size teeth +HP:0006334 decreased primary size teeth +HP:0006334 deciduous hypoplastic teeth +HP:0006334 primary teeth underdevelopment +HP:0006334 milk small teeth +HP:0006334 decreased milk size teeth +HP:0006334 primary small teeth +HP:0006334 baby teeth underdevelopment +HP:0006334 baby decreased size teeth +HP:0006334 milk teeth underdevelopment +HP:0006334 hypoplasia primary teeth +HP:0006334 baby small teeth +HP:0006335 deciduous delayed loss teeth +HP:0006335 delayed loss primary teeth +HP:0006335 dentition persistent primary +HP:0006335 exfoliate failure primary teeth to +HP:0006335 persistent primary teeth +HP:0006335 baby failure lose teeth to +HP:0006335 deciduous retained teeth +HP:0006335 persistence primary teeth +HP:0006335 primary retained teeth +HP:0006335 baby delayed loss teeth +HP:0006335 baby retained teeth +HP:0006335 deciduous dentition persistent +HP:0006335 deciduous exfoliate failure teeth to +HP:0006335 deciduous retention teeth +HP:0006335 deciduous persistence teeth +HP:0006336 roots short tooth +HP:0006336 decreased length roots tooth +HP:0006336 decreased dental length roots +HP:0006336 dental roots short +HP:0006336 roots tooth underdeveloped +HP:0006336 dental roots underdeveloped +HP:0006337 advanced eruption tooth +HP:0006337 early eruption permanent teeth +HP:0006337 dentition eruption precocious secondary +HP:0006337 eruption permanent premature teeth +HP:0006337 eruption precocious secondary teeth +HP:0006337 adult early eruption teeth +HP:0006337 adult eruption premature teeth +HP:0006338 bicuspid malformation mandibular +HP:0006338 lower malformation premolar +HP:0006338 malformation mandibular premolar +HP:0006339 conical incisor mandibular +HP:0006339 incisors mandibular pointed +HP:0006339 front lower shark tooth +HP:0006339 cone front lower shaped tooth +HP:0006339 front lower peg shaped tooth +HP:0006339 incisor mandibular pointed +HP:0006339 conoid incisor mandibular +HP:0006339 incisor mandibular peg shaped +HP:0004247 scaphoid small +HP:0012072 aciduria +HP:0012073 abnormal acylglycine profile urinary +HP:0012070 chondroitin excretion sulfate urine +HP:0012071 abnormality acetylcarnitine metabolism +HP:0012071 abnormal acetylcarnitine profile +HP:0012076 borderline disorder personality +HP:0012077 disorder histrionic personality +HP:0012074 adie pupil +HP:0012074 pupil tonic +HP:0012074 adie pupil s tonic +HP:0012075 disorder personality +HP:0007494 2 5 discrete hyper hypopigmented macules mm to +HP:0012078 block conduction motor +HP:0012079 abnormality central conduction motor +HP:0004244 accessory scaphoid +HP:0012380 activity carnitine o palmitoyltransferase reduced +HP:0004245 comma scaphoid shaped +HP:0012216 entrapment nerve suprascapular +HP:0012216 entrapment nerve neuropathy suprascapular +HP:0012217 increased porphobilinogen urinary +HP:0012214 filtration glomerular increased rate +HP:0012215 microlithiasis testicular +HP:0012212 abnormal filtration glomerular rate +HP:0012213 clearance creatinine reduced +HP:0012213 clearance creatinine impaired renal +HP:0012213 decreased filtration glomerular rate +HP:0012210 abnormal morphology renal +HP:0012210 abnormal kidney morphology +HP:0012210 abnormalities kidney structural +HP:0012210 issue kidney structure +HP:0012210 anomalies renal structural +HP:0012210 kidney malformation +HP:0012210 malformation renal +HP:0012210 abnormally kidney shaped +HP:0012210 anomalies renal structural tract +HP:0012211 abnormality physiology renal +HP:0012211 abnormal function kidney +HP:0012211 abnormal physiology renal +HP:0012211 function issue kidney +HP:0012211 abnormality functional renal +HP:0012211 abnormal function renal +HP:0100292 amyloidosis nerves peripheral +HP:0100293 fibre hypertrophy muscle +HP:0100293 fiber hypertrophy muscle +HP:0100290 abnormality evoked peripheral potentials somatosensory +HP:0100291 abnormality central evoked potentials somatosensory +HP:0100296 atrophy fiber muscle perifascicular +HP:0100297 connective endomysial increased tissue +HP:0012218 alveolar part sarcoma soft +HP:0012219 erythema nodosum +HP:0006598 anterior at ends irregular ossification rib +HP:0006599 clavicles medial widening +HP:0006844 absent jerk knee reflex +HP:0006844 absent patellar reflexes +HP:0006595 humeroscapular synostosis +HP:0006595 humero scapulo synostosis +HP:0006595 arm blade bone fusion long shoulder to upper +HP:0006595 scapulohumeral synostosis +HP:0006595 joint shoulder synostosis +HP:0006596 chest movement restricted +HP:0006849 callosum corpus hypodysplasia +HP:0006590 premature sternal synostosis +HP:0006590 closed prematurely sternal sutures +HP:0006591 aplasia fossa glenoid +HP:0006591 absent fossa glenoid +HP:0006593 anomalous insertion rib to vertebrae +HP:0004993 bones long narrow shaft slender with +HP:0004993 bones diaphyses long narrow slender with +HP:0004990 epiphyseal streaking +HP:0004991 arm rhizomelic shortening +HP:0004997 epiphyses humeral multicentric ossification proximal +HP:0030053 indurated skin +HP:0030053 skin stiff +HP:0001317 cerebellar signs +HP:0001317 abnormality cerebellum +HP:0001317 abnormal cerebellum morphology +HP:0001317 abnormality cerebellar +HP:0001317 anomaly cerebellar +HP:0001317 abnormalities cerebellar +HP:0030608 increased macular measured oct thickness +HP:0001643 arteriosus ductus patent +HP:0001643 arteriosus ductus +HP:0001643 arterial duct persistent +HP:0001643 arteriosus ductus persistent +HP:0001642 narrowing pulmonic valve +HP:0001642 pulmonary stenosis +HP:0001642 pulmonic stenosis valve +HP:0001642 pulmonic stenosis +HP:0001642 pulmonary stenosis valve +HP:0001645 cardiac death premature sudden +HP:0001645 cardiac death sudden +HP:0001312 giant seps +HP:0001312 evoked giant potentials somatosensory +HP:0001647 aortic bicuspid valve +HP:0001647 aortic has leaflets rather than three two valve +HP:0001310 abnormal finger nose test +HP:0001310 dysmetria +HP:0001310 abnormal chase finger test +HP:0001310 coordination lack movement +HP:0001649 fast heart rate +HP:0001649 heart racing +HP:0001649 elevated heart rate +HP:0001649 heart increased rate +HP:0001649 beat heart rapid +HP:0001649 tachycardia +HP:0001648 cor pulmonale +HP:0030603 abnormal coherence optical tomography +HP:0030602 abnormal autofluorescence fundus imaging +HP:0030605 abnormal angiography green indocyanine +HP:0030604 abnormal angiography fluorescein fundus +HP:0001319 low muscle neonatal onset tone +HP:0001319 hypotonia neonatal +HP:0001319 hypotonia neonatal onset +HP:0001319 hypotonia +HP:0030606 abnormal macular measured oct thickness +HP:0007421 cheeks telangiectases +HP:0007421 cheeks on telangiectasia +HP:0007420 hematomas spontaneous +HP:0100128 2nd epiphysis ivory phalanx proximal toe +HP:0100128 2nd bone density end increased innermost part toe +HP:0100129 2nd phalanx proximal pseudoepiphysis toe +HP:0007425 face skin stretchable +HP:0007425 face hyperextensible skin +HP:0007425 face hyperelastic skin +HP:0100124 2nd cone epiphysis phalanx proximal shaped toe +HP:0100124 2nd bone cone end innermost part shaped toe +HP:0100125 2nd enlarged epiphysis phalanx proximal toe +HP:0100125 2nd bone end enlarged innermost part toe +HP:0100126 2nd epiphysis fragmentation phalanx proximal toe +HP:0100126 2nd bone end fragmentation innermost part toe +HP:0007428 angioectasia membrane mucous oral +HP:0007428 angioectasia mucosa oral +HP:0007428 mucosa oral spider veins +HP:0007428 membrane mucous oral telangiectasia +HP:0007428 mucosa oral telangiectasia +HP:0100120 2nd epiphysis middle phalanx stippling toe +HP:0100120 2nd bone calcifications end middle part speckled toe +HP:0100121 2nd bone end middle part toe triangular +HP:0100121 2nd epiphysis middle phalanx toe triangular +HP:0100122 2nd absent epiphysis phalanx proximal toe +HP:0100122 2nd absent bone end innermost part toe +HP:0100123 2nd bracket epiphysis phalanx proximal toe +HP:0100123 2nd bone bracket end innermost part shaped toe +HP:0500009 disease duclos lhermitte +HP:0500009 cerebellum dysplastic gangliocytoma +HP:0500008 keratopathy vortex +HP:0500008 cornea verticillata +HP:0500007 flocculi iris +HP:0500006 urethritis +HP:0500005 pain rectal +HP:0500005 anal pain +HP:0500001 bromhidrosis +HP:0500001 osmidrosis +HP:0500001 body odor +HP:0500001 bromidrosis +HP:0500001 body odour +HP:0008214 decreased estradiol serum +HP:0030744 hyaloid mass remnant retrolental vascular +HP:0030745 arteriosus dilatation ductus +HP:0030745 aneurysm arteriosus ductus +HP:0030746 hemorrhage intraventricular +HP:0030747 hemorrhage intraventricular preterm +HP:0030740 anomalous bundle muscle right ventricular +HP:0030740 anomalous bundle muscle right ventricle +HP:0030741 mediastinal teratoma +HP:0030741 mediastinum teratoma +HP:0030742 glial lens posterior remnants to +HP:0030742 dot mittendorf +HP:0030743 bergmeister papilla +HP:0030743 anterior disc glial optic remnants to +HP:0030748 grade hemorrhage i intraventricular preterm +HP:0030748 germinal hemorrhage matrix +HP:0030749 grade hemorrhage ii intraventricular preterm +HP:0008216 adrenal dysplastic glands +HP:0008216 adrenal dysplasia gland +HP:0008216 adrenal dysgenesis gland +HP:0410034 alveolar bilateral cleft maxilla +HP:0008211 agenesis parathyroid +HP:0008211 absence parathyroid +HP:0008211 aplasia parathyroid +HP:0003141 beta increased lipoproteins +HP:0003141 increased ldl levels plasma +HP:0003141 circulating increased ldl level +HP:0003141 hyperbetalipoproteinemia +HP:0003141 cholesterol concentration increased ldl +HP:0003141 cholesterol increased ldl +HP:0003141 circulating density increased levels lipoprotein low +HP:0003141 cholesterol circulating density increased lipoprotein low +HP:0005164 dysplastic pulmonary valve +HP:0000997 axillary freckling +HP:0000995 melanocytic nevus +HP:0000995 beauty mark +HP:0000995 melanocytic naevus +HP:0000995 mole noncancerous +HP:0000995 nevi pigmented +HP:0000995 melanocytic nevi +HP:0000995 nevi nevocellular +HP:0000995 naevi pigmented +HP:0000992 cutaneous photosensitivity +HP:0000992 photosensitive rashes skin +HP:0000992 photosensitivity skin +HP:0000992 photosensitivity +HP:0000992 sensitivity sun +HP:0000992 photosensitive skin +HP:0000992 sensitivity sunlight to +HP:0000993 molluscoid pseudotumors +HP:0000993 molluscoid pseudotumor +HP:0005162 dysfunction left ventricular +HP:0005162 impairment left ventricular +HP:0005162 failure left ventricular +HP:0005162 function impaired left ventricular +HP:0005162 failure heart left sided +HP:0000991 bumps deposits fatty on skin yellow +HP:0000991 xanthomatosis +HP:0000991 xanthomata +HP:0005168 atrial elevated pressure right +HP:0000998 excessive growth hair +HP:0000998 hypertrichosis +HP:0000998 body growth hair increased on +HP:0000999 filled lesion pus +HP:0000999 pyoderma +HP:0004695 calcaneal epiphyseal stippling +HP:0004696 cavus equinovarus talipes +HP:0040286 abnormality axial muscles +HP:0040287 atrophy axial muscle +HP:0004692 4th 5th toes webbed +HP:0004692 4 5 syndactyly toes +HP:0004692 4 5 symmetric syndactyly toes +HP:0004692 4 5 syndactyly toe +HP:0040288 feeding nasogastric tube +HP:0040289 cyclic neutropenia +HP:0004699 metatarsal osteoporotic +HP:0001864 curvature little toe +HP:0001864 curvature pinkie toe +HP:0001864 curvature pinky toe +HP:0001864 5th clinodactyly toe +HP:0001863 curvature toe +HP:0001863 clinodactyly feet +HP:0001863 clinodactyly toe +HP:0001869 creases deep plantar +HP:0001869 deep feet soles wrinkles +HP:0001868 autoamputation foot +HP:0010104 absent first metatarsal +HP:0010104 1st absent metatarsal +HP:0010104 1st aplasia metatarsal +HP:0010104 1st absent bone foot long +HP:0010105 first hypoplasia metatarsal +HP:0010105 1st bone foot long short +HP:0010105 first hypoplastic metatarsals +HP:0010105 first metatarsal short +HP:0010106 absent big bone innermost toe +HP:0010106 aplasia hallux phalanx proximal +HP:0010107 big bone innermost short toe +HP:0010107 halluces phalanges proximal short +HP:0010107 big phalanx proximal small toe +HP:0010107 hallux phalanx proximal short +HP:0010107 halluces phalanx proximal short +HP:0010107 hallux hypoplastic phalanx proximal +HP:0010107 hallux phalanx proximal small +HP:0010100 complete duplication hallux phalanx +HP:0010100 big bones complete duplication toe +HP:0010100 complete duplication hallux phalanges +HP:0010101 big duplication partial toe +HP:0010101 duplication hallux partial +HP:0010101 duplication hallux partial phalanges +HP:0000198 agenesis duct stensen +HP:0000198 duct missing stensen +HP:0000198 agenesis duct parotid +HP:0000198 absence duct stensen +HP:0000198 development duct failure parotid +HP:0000198 absent duct stensen +HP:0000198 absence duct parotid +HP:0000198 development duct failure stensen +HP:0000198 duct missing parotid +HP:0000199 lingual nodules +HP:0000199 nodules tongue +HP:0000196 lip lower pit +HP:0000197 abnormal gland morphology parotid +HP:0000197 abnormality gland parotid +HP:0000197 anomaly gland parotid +HP:0000194 appearance mouth open +HP:0000194 appearance jawed slack +HP:0000194 appearance gaped jawed +HP:0000194 appearance gaped mouthed +HP:0000194 mouth open +HP:0005343 bladder underdeveloped +HP:0005343 bladder hypoplastic +HP:0005343 bladder hypoplasia +HP:0005344 abnormality arteries carotid +HP:0005344 abnormal artery carotid morphology +HP:0000193 cleft uvula +HP:0000193 split uvula +HP:0000193 bifid palatine uvula +HP:0000193 bifid uvula +HP:0000193 bifida uvula +HP:0000193 forked uvula +HP:0000190 abnormality frenum tongue +HP:0000190 abnormality frenum lingual +HP:0000190 abnormal frenulum morphology oral +HP:0000190 abnormality frenula oral +HP:0000190 abnormality frenum oral +HP:0000191 accessory frenum oral +HP:0000191 extra frenum oral +HP:0000191 accessory frenulum oral +HP:0000191 frenula multiple oral +HP:0000191 frenum oral supernumerary +HP:0000191 frenulum oral supernumerary +HP:0000191 extra frenulum oral +HP:0011136 aplasia glands sweat +HP:0011136 glands lack sweat +HP:0011136 absent glands sweat +HP:0012858 decreased rugation scrotal +HP:0012859 epidermoid esophageal metaplasia +HP:0012859 esophageal leukoplakia +HP:0003549 abnormality connective tissue +HP:0012854 hypospadias midshaft +HP:0012855 hyperpigmentation scrotum +HP:0012855 hyperpigmented scrotum +HP:0012855 hyperpigmentation scrotal +HP:0012855 increased pigmentation scrotum +HP:0012856 abnormal rugation scrotal +HP:0012857 increased rugation scrotal +HP:0012850 dysmotility intestinal small +HP:0012851 colon narrowing +HP:0012851 colonic stenosis +HP:0012851 colon stenosis +HP:0012852 bridging fibrosis hepatic +HP:0012853 hypospadias scrotal +HP:3000043 abnormal facial morphology vein +HP:3000043 abnormal face vein +HP:3000043 abnormality facial vein +HP:0003649 abnormality glycoside metabolism +HP:0003648 acid high lactic levels urine +HP:0003648 lacticaciduria +HP:3000042 abnormal jugular morphology vein +HP:3000042 abnormality jugular vein +HP:0003643 deficiency oxidase sulfite +HP:0003642 abnormal focusing i isoelectric pattern serum transferrin type +HP:0003642 cdg consistent focusing i isoelectric serum transferrin type with +HP:0003642 i isoform profile transferrin type +HP:0003642 1 isoform profile transferrin type +HP:0003641 hemoglobin urine +HP:0003641 hemoglobinuria +HP:0003640 cells cns foam organs visceral +HP:0003647 defect electron flavoprotein oxidoreductase transfer ubiquinone +HP:0003646 bicarbonaturia +HP:0003645 abnormal partial thromboplastin time +HP:0003645 delayed generation thromboplastin +HP:0003645 activated partial prolonged thromboplastin time +HP:0003645 partial prolonged thromboplastin time +HP:0002362 gait shuffling +HP:0002362 shuffled walk +HP:0010344 displacement little toe +HP:0010344 displacement pinky toe +HP:0010344 5th displacement toe +HP:0010344 5th deviation toe +HP:0010344 displacement pinkie toe +HP:0002599 head titubation +HP:0012540 armpit cyst +HP:0012540 axillary cyst epidermoid +HP:3000040 abnormality air cells ethmoidal +HP:3000040 abnormality ethmoid sinus +HP:0011422 abnormality chloride homeostasis +HP:0010053 abnormality distal hallux phalanx +HP:0010053 abnormality big bone outermost toe +HP:0002590 ileus paralytic +HP:0002591 appetite voracious +HP:0002591 hyperphagia +HP:0002591 appetite increased +HP:0002591 polyphagia +HP:0002592 stomach ulcer +HP:0002592 gastric ulcer +HP:0011423 hyperchloremia +HP:0002594 pancreas underdeveloped +HP:0002594 hypoplastic pancreas +HP:0002594 hypoplasia pancreatic +HP:0002595 ileus +HP:0002595 atony gastrointestinal +HP:0002597 abnormality blood vessels +HP:0002597 abnormality vasculature +HP:0002597 abnormalities vascular +HP:0004260 bone large unciform +HP:0004260 bone hamate large +HP:0000738 hallucinations +HP:0000738 hallucination +HP:0000738 hallucination sensory +HP:0000739 anxiety disease +HP:0000739 anxiety +HP:0000739 excessive fear persistent worry +HP:0000739 anxiousness +HP:3000045 abnormality genioglossus muscle +HP:0003541 excretion glycosaminoglycan urinary +HP:0000732 adherence inflexible or rituals routines to +HP:0000733 behavior injurious or repetitive self +HP:0000733 behaviors motor stereotypical +HP:0000733 behavior sterotyped +HP:0000733 behaviour repetitive stereotyped +HP:0000733 behaviors stereotyped +HP:0000733 behaviors stereotypic +HP:0000733 behavior stereotypic +HP:0000733 movements repetitive +HP:0000733 stereotypy +HP:0000733 behavior stereotyped +HP:0012516 atresia fallot pulmonary tetralogy with +HP:0000736 attention short span +HP:0000736 attention poor span +HP:0000736 distracted easily +HP:0000736 attention paying problem +HP:0004262 abnormality bone capitate +HP:0000734 disinhibition +HP:0004618 appearance bodies sandwich vertebral +HP:0008509 aged appearance leonine +HP:0100728 cell germ neoplasia +HP:0011508 hole macular +HP:0005600 giant hairy nevus pigmented +HP:0005600 giant melanocytic nevus +HP:0005600 giant nevus pigmented +HP:0005600 giant mole pigmented +HP:0008501 cleft lip midline palate +HP:0008501 cleft lip medial palate +HP:0008501 cleft lip median palate +HP:0008501 cleft lip midline palate wide +HP:0008501 central cleft lip palate +HP:0011428 bone fetal length short thigh +HP:0011428 femur fetal length short +HP:0011501 anterior lenticonus +HP:0011500 multiple pupils +HP:0011500 polycoria +HP:0011507 flecks macular +HP:0100727 histiocytosis +HP:0100724 thrombophilia +HP:0100724 hypercoagulability +HP:0100724 blood hyperviscosity +HP:0100725 lichenification +HP:0004439 craniofacial dysostosis +HP:0004439 crouzon syndrome +HP:0004438 bone excessive frontal growth inner surface +HP:0004438 bone frontal inside overgrowth +HP:0004438 bone frontal inner surface thick +HP:0004438 bone frontal inner overgrowth surface +HP:0004438 bone enlargement frontal inner surface +HP:0004438 bone frontal internal surface thick +HP:0004438 frontalis hyperostosis interna +HP:0004438 bone frontal hypertrophy internal surface +HP:0004438 bone frontal increased internal ossification surface +HP:0004438 bone frontal hyperostosis internal surface +HP:0011138 abnormality adnexa morphology skin +HP:0011138 abnormal appendage skin +HP:0004349 bone density mineral reduced +HP:0004349 bone decreased density mineral score z +HP:0004349 bone decreased density mineral +HP:0004349 bones low mass solidness +HP:0004348 abnormality bone density mineral +HP:0004348 abnormality bone mineralisation ossification +HP:0004347 muscles respiration weakness +HP:0004430 combined immunodeficiency severe +HP:0004433 deficiency iga secretory +HP:0004267 hand joints narrow small +HP:0004343 abnormality glycosphingolipid metabolism +HP:0004342 abnormality galactoside metabolism +HP:0009117 bones jaw underdevelopment upper +HP:0009117 maxilla underdevelopment +HP:0009117 aplasia hypoplasia maxilla +HP:0004340 abnormality b metabolism vitamin +HP:0009850 bones finger hand middle shaped triangular +HP:0009850 hand middle phalanges shaped triangular +HP:0005603 melanocytic nevi numerous +HP:0002778 abnormal morphology trachea +HP:0002778 disease tracheal +HP:0002778 abnormality trachea +HP:0002779 tracheomalacia +HP:0002779 floppy widepipe +HP:0009851 absent bones finger hand innermost underdeveloped +HP:0009851 absent bones finger hand innermost small +HP:0009851 aplasia hand hypoplasia phalanges proximal +HP:0003931 bone diaphysis humeral new periosteal +HP:0012383 bidirectional shunt +HP:0002777 narrowing windpipe +HP:0002777 stenosis tracheal +HP:0003930 defects diaphysis humeral lytic +HP:0003930 diaphyseal humeral lysis +HP:0010246 absent distal epiphyses hand phalanges +HP:0010246 absent bones end hand outermost part +HP:0008444 bodies posterior vertebral wedging +HP:0008445 canal cervical narrow spinal +HP:0008445 canal cervical spinal stenosis +HP:0100463 bone density increase middle pinkie toe uneven +HP:0100463 bone density increase middle pinky toe uneven +HP:0100463 bone density increase little middle toe uneven +HP:0100463 5th middle patchy phalanx sclerosis toe +HP:0008447 coccygeal hypoplastic vertebrae +HP:0008440 abnormality c1 c2 vertebral +HP:0008441 herniation intervertebral nuclei +HP:0008441 disk herniated +HP:0008441 herniated intervertebral nuclei +HP:0008442 hyperostosis vertebral +HP:0008443 deformities spinal +HP:0011767 abnormality parathyroid physiology +HP:0011767 issue parathyroid +HP:0011767 dysfunction parathyroid +HP:0011766 abnormality morphology parathyroid +HP:0009857 bones fused hand innermost +HP:0009857 affecting hand phalanges proximal symphalangism +HP:0011763 carcinoma pituitary +HP:0008449 cervical fusion progressive spine vertebral +HP:0011761 adenoma clinically pituitary silent +HP:0011761 adenoma hormonally pituitary silent +HP:0011761 adenoma cell null pituitary +HP:0011761 adenoma pituitary silent +HP:0011761 adenoma functional non pituitary +HP:0011760 pituitary somatotropinoma +HP:0011760 adenoma cell growth hormone pituitary +HP:0032078 angel phalanx shaped +HP:0032079 degeneration medial +HP:0032075 fusion splenopancreatic +HP:0032076 abnormal male meatus morphology urethral +HP:0032077 male meatus stenosis urethral +HP:0032077 meatal stenosis +HP:0032077 meatus stenosis +HP:0032070 enhancement leptomeningeal +HP:0002145 dementia frontotemporal +HP:0032072 cyst popliteal synovial +HP:0032072 baker cyst s +HP:0032073 aplasia fallopian tube +HP:0002632 blood low normal pressure to +HP:0001653 mild mitral regurgitation +HP:0001653 incompetence mitral +HP:0001653 mitral regurgitation valve +HP:0001653 mitral regurgitation +HP:0001653 insufficiency mitral +HP:0001653 insufficiency mitral valve +HP:0002635 atheromatosis +HP:0002635 atherosclerotic iv lesion type +HP:0001650 aortic narrowing valve +HP:0001650 aortic stenosis +HP:0001650 aortic stenosis valve +HP:0001650 aortic stenosis valvular +HP:0001651 dextrocardia +HP:0001651 inversus situs thoracic +HP:0001651 body chambers four heart point right side tip towards +HP:0002637 blood brain disruption oxygen supply to +HP:0002637 cerebral ischemia +HP:0002637 cerebrovascular ischemia +HP:0002637 brain ischemia +HP:0008998 muscle pec underdeveloped +HP:0008998 muscle pec small +HP:0008998 hypoplasia pectoralis +HP:0008998 hypoplastic muscle pectoral +HP:0008997 limbs muscle proximal upper weakness +HP:0008994 limbs lower muscle proximal weakness +HP:0002636 abdominal an aneurysm artery +HP:0002636 abdominal an artery dilatation +HP:0008993 fat increased intraabdominal +HP:0008991 cramps exercise induced leg +HP:0025139 estrone increased serum +HP:0025138 abnormal estrone serum +HP:0025135 abnormal estriol serum +HP:0025134 estradiol increased level +HP:0025134 increased oestradiol serum +HP:0025134 estradiol increased serum +HP:0025137 decreased estriol serum +HP:0025136 estriol increased serum +HP:0025131 finger swollen +HP:0025131 finger swelling +HP:0025131 fingers swollen +HP:0025131 fingers swelling +HP:0025130 deficiency lactase +HP:0025130 activity decreased intestinal lactase mucosa small +HP:0025133 abnormal estradiol serum +HP:0025132 abnormal circulating level oestrogen +HP:0025132 abnormal estrogen level +HP:0025132 abnormal circulating estrogen level +HP:0001308 fasciculations tongue +HP:0001308 lingual twitching +HP:0001308 fasciculations fibrillations tongue +HP:0001308 fasciculation tongue +HP:0001308 fasciculations lingual +HP:0001308 fibrillations lingual +HP:0001308 tongue twitching +HP:0006432 condyles distal femoral trapezoidal +HP:0005856 dislocation heads radial ulnar +HP:0005856 dislocation head radial ulnar +HP:0001658 infarction myocardial +HP:0001658 attack heart +HP:0012689 abnormal melatonin pineal secretion +HP:0012688 abnormality physiology pineal +HP:0001659 aortic insufficiency +HP:0001659 aortic regurgitation valve +HP:0001659 aortic regurgitation +HP:0012681 abnormality morphology pineal +HP:0012680 abnormality gland pineal +HP:0012683 cyst pineal +HP:0012682 calcification gland pineal +HP:0012685 decreased pineal volume +HP:0012684 abnormal pineal volume +HP:0012687 agenesis gland pineal +HP:0012686 increased pineal volume +HP:0000008 abnormality female genitalia internal +HP:0000009 bladder function poor +HP:0000009 abnormality bladder functional +HP:0005906 mastoid pneumatized poorly processes +HP:0005906 delayed mastoid pneumatization process +HP:0005905 abnormal cervical curvature +HP:0005905 abnormal curve neck +HP:0005900 fifth metacarpal notch ulnar with +HP:0005900 fifth metacarpal notched on side ulnar +HP:0005901 chronic multifocal osteomyelitis recurrent +HP:0008551 ears hypoplastic +HP:0008551 pinnae small +HP:0008551 ear external hypoplasia +HP:0008551 bilateral microtia +HP:0008551 ears underdeveloped +HP:0008551 microtia +HP:0008551 ears small +HP:0008551 hypoplastic pinna +HP:0012533 allodynia +HP:0007517 increased palms soles wrinkles +HP:0007517 excessive palms skin soles wrinkled +HP:0007517 feet hands skin wrinkled +HP:0007517 palms soles wrinkled +HP:0007517 cutis laxa palmoplantar +HP:0007517 furrowed palms soles +HP:0007858 chorioretinal lacunae +HP:0007858 depigmentation lacunar retinal +HP:0007859 horizontal nystagmus +HP:0012537 allergic food hypersensitivity non +HP:0012537 food intolerance +HP:0012536 antibody anticardiolipin maternal positive +HP:0012535 abnormality metabolism neurotransmitter +HP:0012535 abnormal synaptic transmission +HP:0008720 failure primary testicular +HP:3000025 abnormality ciliary ganglion +HP:3000024 abnormal artery facial morphology +HP:3000024 abnormality artery facial +HP:0007850 proliferation retinal vascular +HP:0012538 gluten sensitivity +HP:0012538 gluten intolerance +HP:0007856 corneal opacities punctate +HP:0007856 cornea opacification punctate +HP:0100540 eyelids fullness +HP:0100540 edema palpebral +HP:0100540 edema eyelids +HP:0100540 edema eyelid +HP:0100540 eyelids puffy +HP:0100540 lids puffy +HP:0100540 eyelids swelling +HP:0007854 defect field glaucomatous visual +HP:3000022 abnormality cartilage ear external +HP:0007434 facial hemangioma like plaque +HP:0007042 focal lesions matter white +HP:0000002 abnormality body height +HP:0007435 diffuse keratoderma palmoplantar +HP:0007513 fair skin +HP:0007513 pale pigmentation +HP:0007513 generalized hypopigmentation +HP:0000003 dysplasia multicystic renal +HP:0000003 dysplasia kidney multicystic +HP:0000003 kidneys multicystic +HP:0000003 dysplastic kidney multicystic +HP:0007436 dysplasia ectodermal hair nail +HP:0100547 abnormality forebrain morphology +HP:0100547 abnormality forebrain +HP:0100547 abnormal forebrain shape +HP:0031725 hypophoria +HP:0031724 microtropia +HP:0031727 excyclotropia +HP:0031726 incyclotropia +HP:0006459 dorsal subluxation ulna +HP:0007511 areas mottled photoexposed pigmentation +HP:0006109 absent crease phalangeal +HP:0006109 absent creases interphalangeal +HP:0006109 aplasia creases interphalangeal +HP:0006108 bones hand long tapered +HP:0006108 metacarpals tapered +HP:0006107 fingerpad telangiectases +HP:0006107 blood dilated fingerpads small vessels +HP:0006107 finger pad telangiectases +HP:0006454 delayed ossification patellae +HP:0006454 bone cap delayed knee maturation +HP:0006454 delayed ossification patellar +HP:0006456 epiphyses irregular proximal tibial +HP:0006456 end innermost irregular part shinbone +HP:0006456 end innermost irregular part shankbone +HP:0031729 hyperopia moderate +HP:0031729 hypermetropia moderate +HP:0006450 epiphyses femoral multicentric ossification proximal +HP:0006453 displaced femoral heads laterally +HP:0006453 displacement femoral head lateral +HP:0007431 ichthyosis +HP:0007431 erythroderma ichthyosiform +HP:0007432 erythematous generalized intermittent papular rash +HP:0100116 2nd bone end irregular middle part toe +HP:0100116 2nd epiphysis irregular middle phalanx toe +HP:0000857 dependent diabetes insulin mellitus neonatal +HP:0011275 avium complex infections mycobacterium recurrent +HP:0000855 insulin resistance +HP:0000854 adenoma thyroid +HP:0000853 goitre +HP:0000853 goiter thyroid +HP:0000853 goiter +HP:0000852 pseudohypoparathyroidism +HP:0000851 hypothyroidism +HP:0000851 birth from gland thyroid underactive +HP:0011274 infections mycobacterial recurrent +HP:0000859 aldosterone increased production +HP:0000859 hyperaldosteronism +HP:0000859 aldosterone increased +HP:0000859 excess mineralocorticoid +HP:0000859 aldosterone elevated plasma +HP:0000858 irregularity menstrual +HP:0000858 irregularities menstrual +HP:0003201 rhabdomyolysis +HP:0003201 breakdown muscle skeletal +HP:0007354 amyotrophic lateral sclerosis +HP:0007354 disease gehrig lou s +HP:0011270 duplicated tragus +HP:0011270 accesory tragus +HP:0005527 deficiency factor williams +HP:0005527 deficiency kininogen +HP:0005527 deficiency factor fitzgerald flaujeac williams +HP:0005527 deficiency factor fitzgerald +HP:0005527 activity kininogen reduced +HP:0009473 contracture hand joint +HP:0009473 contractures hands involving +HP:0009473 contractures hands +HP:0009470 3rd contracture finger joint metacarpophalangeal +HP:0009471 3rd contracture finger interphalangeal joint proximal +HP:0009471 3rd camptodactyly finger +HP:0009471 camptodactyly finger third +HP:0009477 4th finger middle proximal symphalangism +HP:0009477 bone finger fused index innermost middle +HP:0009478 4th bone finger fused hand innermost long ring with +HP:0009478 4th finger metacarpal phalanx proximal symphalangism with +HP:0004664 facial hemangioma midline +HP:0001102 angioid streaks +HP:0001102 angioid retina streaks +HP:0001102 cracks laquer retina +HP:0001102 angioid fundus streaks +HP:0001103 abnormality macular +HP:0001103 abnormality macula +HP:0001103 abnormal macular morphology +HP:0001100 heterochromia irides +HP:0001100 heterochromia iridis +HP:0001100 colored different eyes +HP:0001101 iritis +HP:0001101 inflammation iris +HP:0001106 hyperpigmentation periorbital +HP:0001106 around darkening eyes +HP:0001106 at cutaneous hyperchromia idiopathic orbital region +HP:0001106 circles dark eyes under +HP:0001106 infraorbital pigmentation +HP:0001106 around eyes pigmentation +HP:0001106 melanosis periorbital +HP:0001106 around circles dark eyes +HP:0001107 absent eye pigmentation +HP:0001107 albinism ocular +HP:0001104 hypoplasia macular +HP:0001105 atrophy retinal +HP:0001454 abnormality arm upper +HP:0001457 abnormality arm musculature upper +HP:0001908 anemia hypoplastic +HP:0000501 glaucoma +HP:0005752 deformed flattened moderately vertebrae +HP:0000503 conjunctival tortuosity vessels +HP:0005750 contractures joints limbs lower +HP:0005750 contractures limbs lower +HP:0000505 impaired vision +HP:0000505 eyesight loss +HP:0000505 poor vision +HP:0000505 impairment visual +HP:0005756 epiphyseal neonates stippling +HP:0005756 epiphyseal neonatal stippling +HP:0005756 bone calcifications end neonates parts speckled +HP:0000506 corners eye separated widely +HP:0000506 telecanthus +HP:0000506 canthorum dystopia +HP:0000506 between canthi distance increased medial +HP:0000506 distance increased intercanthal +HP:0000509 conjunctivitis +HP:0000509 eye pink +HP:0000509 conjunctivitis recurrent +HP:0000508 ptosis +HP:0000508 drop eye +HP:0000508 eyelid ptosis +HP:0000508 blepharoptosis +HP:0000508 drooping eyelid upper +HP:0005759 flat fossa posterior skull small +HP:0005759 flat fossa posterior small +HP:0005759 bones flat posterior skull small +HP:0005758 basilar impression +HP:0100911 bone density finger increased innermost pinkie +HP:0100911 5th finger phalanx proximal sclerosis +HP:0100911 bone density finger increased innermost pinky +HP:0100911 bone density finger increased innermost little +HP:0100910 4th finger phalanx proximal sclerosis +HP:0100910 bone density finger increased innermost ring +HP:0100913 bone density increased innermost thumb +HP:0100913 phalanx proximal sclerosis thumb +HP:0100912 bone density increased outermost thumb +HP:0100912 distal phalanx sclerosis thumb +HP:0100915 distal finger phalanx sclerosis +HP:0100915 distal hand phalanges sclerosis +HP:0100915 bone density finger increased outermost +HP:0100914 1st metacarpal sclerosis +HP:0100914 1st bone density hand increased long +HP:0100917 bone density finger increased innermost +HP:0100917 hand phalanges proximal sclerosis +HP:0100917 finger phalanx proximal sclerosis +HP:0100916 finger middle phalanx sclerosis +HP:0100916 hand middle phalanges sclerosis +HP:0100916 bone density finger hand increased middle +HP:0100919 3rd finger phalanx sclerosis +HP:0100919 bone density finger increased middle +HP:0100919 3rd finger phalanges sclerosis +HP:0100918 2nd bone density finger increased +HP:0100918 2nd finger phalanges sclerosis +HP:0100918 2nd finger phalanx sclerosis +HP:0004303 abnormality fibers muscle +HP:0004303 abnormal fiber morphology muscle skeletal +HP:0030771 finger mallet +HP:0030770 craniorachischisis +HP:0030773 internuclear ophthalmoplegia +HP:0030772 deficiency femoral focal proximal +HP:0030775 changes endplate modic type vertebral +HP:0030774 mitochondrial swelling +HP:0030777 2 changes endplate modic type vertebral +HP:0030777 changes endplate ii modic type vertebral +HP:0030776 1 changes endplate modic type vertebral +HP:0030776 changes endplate i modic type vertebral +HP:0010599 abnormality distal epiphysis humeral +HP:0010599 abnormality arm bone end long outermost part upper +HP:0010598 abnormality epiphysis humeral proximal +HP:0010598 abnormality arm bone end innermost long part upper +HP:0010597 abnormality distal epiphysis radial +HP:0010596 abnormality epiphysis proximal radial +HP:0010595 abnormality bone calf end outermost part +HP:0010595 abnormality distal epiphysis fibular +HP:0010594 abnormality bone calf end innermost part +HP:0010594 abnormality epiphysis fibular proximal +HP:0010593 abnormality bone calf end part +HP:0010593 abnormality epiphyses fibular +HP:0010592 abnormality end outermost part shinbone +HP:0010592 abnormality end outermost part shankbone +HP:0010592 abnormality distal epiphysis tibial +HP:0010591 abnormality epiphysis proximal tibial +HP:0010591 abnormality end innermost part shankbone +HP:0010591 abnormality end innermost part shinbone +HP:0010590 abnormality distal epiphysis femoral +HP:0010590 abnormality end outermost part thighbone +HP:0011972 hypoglycorrhachia +HP:0011972 csf decreased glucose +HP:0011972 cerebral fluid glucose levels low spinal +HP:0011972 csf glucose increased +HP:0011973 lethargy paroxysmal +HP:0011970 amyloid angiopathy cerebral +HP:0011971 dermatographic urticaria +HP:0011971 dermographism +HP:0011971 dermatographism +HP:0011976 catecholamines elevated urinary +HP:0011977 acid elevated homovanillic urinary +HP:0011977 acid homovanillic increased urinary +HP:0011974 myelofibrosis +HP:0011975 aminoglycoside hearing induced loss +HP:0011978 acid increased urinary vanillylmandelic +HP:0011978 acid elevated urinary vanillylmandelic +HP:0011979 dopamine elevated urinary +HP:0002909 aminoaciduria generalized nonspecific +HP:0002909 aminoaciduria generalized +HP:0002908 conjugated hyperbilirubinemia +HP:0002908 direct hyperbilirubinemia +HP:0002902 hyponatremia +HP:0002902 blood levels low sodium +HP:0002901 hypocalcaemia +HP:0002901 blood calcium levels low +HP:0002901 hypocalcemia +HP:0002900 blood levels low potassium +HP:0002900 hypokalemia +HP:0002907 hematuria microscopic +HP:0002907 microhematuria +HP:0002907 hematuria occult +HP:0002905 blood high levels phosphate +HP:0002905 hyperphosphatemia +HP:0002904 bilirubin blood high levels +HP:0002904 hyperbilirubinemia +HP:0010373 4th bullet phalanges shaped toe +HP:0010373 4th bullet phalanx shaped toe +HP:0010373 4th bones bullet shaped toe +HP:0010372 4th bones broad toe +HP:0010372 4th broad phalanges toe +HP:0010371 4th absent bones toe underdeveloped +HP:0010371 4th aplasia hypoplasia phalanges toe +HP:0010371 4th absent bones small toe +HP:0010370 3rd abnormality bone innermost toe +HP:0010370 3rd abnormality phalanx proximal toe +HP:0010377 4th bones fused toe +HP:0010377 4th affecting phalanges symphalangism toe +HP:0010376 4th patchy phalanx sclerosis toe +HP:0010376 4th patchy phalanges sclerosis toe +HP:0010376 4th bone density increase toe uneven +HP:0010375 4th defects osteolytic phalanges toe +HP:0010374 4th bones curved toe +HP:0010374 4th curved phalanges toe +HP:0010374 4th curved phalanx toe +HP:0010379 duplication fourth phalanx toe +HP:0010379 4th complete duplication partial phalanges toe +HP:0010379 4th duplication phalanx toe +HP:0010379 4th bone duplication toe +HP:0010378 4th bones shaped toe triangular +HP:0010378 4th phalanges shaped toe triangular +HP:0003368 abnormal bone head thigh +HP:0003368 abnormality femoral head +HP:0003361 high levels tryptophan urine +HP:0003361 tryptophanuria +HP:0003362 cholesterol increased plasma vldl +HP:0003362 cholesterol circulating density increased lipoprotein low very +HP:0003362 circulating density increased levels lipoprotein low very +HP:0003362 cholesterol concentration increased vldl +HP:0003363 abdominal inversus situs +HP:0003363 inversus situs viscerum +HP:0003363 inversus situs visceralis +HP:0003365 coxalgia +HP:0003365 arthralgia hip +HP:0003365 hip joint pain +HP:0003366 abnormal bone head neck or thigh +HP:0003366 abnormality femoral head neck or region +HP:0003367 abnormality femoral neck +HP:0003367 abnormal bone neck thigh +HP:0003045 abnormality patella +HP:0003045 abnormal kneecap +HP:0003045 abnormality patellar +HP:0007335 encephalopathy recurrent +HP:0007335 cerebellar encephalopathy extrapyramidal recurrent +HP:0100092 3rd abnormality bone end middle part toe +HP:0100092 3rd abnormality epiphysis middle phalanx toe +HP:0007334 clonic generalised secondarily seizures tonic +HP:0007334 bilateral convulsive seizures +HP:0007334 clonic focal generalized onset seizures tonic with +HP:0007334 clonic generalized secondary seizures tonic +HP:0007334 generalization partial secondary seizures with +HP:0025230 tendonitis +HP:0025230 teninitis +HP:0031530 deposits multifocal subretinal +HP:0031531 deposits rpe sub +HP:0031532 deposits focal rpe sub +HP:0031533 deposits multifocal rpe sub +HP:0031534 5th 90 degrees dorsiflexion finger more passive than +HP:0031535 activity eeg frequency increased theta +HP:0031536 anterior artery circumflex descending left origin separate +HP:0031537 anomalous artery circumflex coronary from left origin right +HP:0031538 abnormal dermoepidermal junction morphology +HP:0031539 along basement deposits epidermal iga linear membrane zone +HP:0025273 achilles tendonitis +HP:0007333 frontal hypoplastic lobes +HP:0007333 frontal lobe underdeveloped +HP:0007333 frontal hypoplasia lobes +HP:0007333 frontal hypoplasia lobe +HP:0005326 philtrum small +HP:0005326 hypoplastic philtrum +HP:0007332 hemifacial seizures +HP:0012054 choroidal melanoma +HP:0012055 body ciliary melanoma +HP:0012056 cutaneous melanoma +HP:0012057 melanoma spreading superficial +HP:0012050 anasarca +HP:0012050 edema extreme generalized +HP:0012051 a after blood low meal sugar +HP:0012051 hypoglycemia reactive +HP:0012051 hypoglycemia postprandial +HP:0012052 1 25 dihydroxycholecalciferol low serum +HP:0012052 1 25 d3 dihydroxyvitamin low serum +HP:0012052 calcitriol low serum +HP:0012053 calcifediol low serum +HP:0012053 calcidiol low serum +HP:0012053 25 hydroxycholecalciferol low serum +HP:0012058 melanoma nodular +HP:0012059 lentigo maligna melanoma +HP:0012145 abnormality bone cell lineages marrow multiple +HP:0002019 costiveness +HP:0002019 constipation +HP:0002019 dyschezia +HP:0002018 nausea +HP:0009900 deafness ear one +HP:0009900 deafness unilateral +HP:0009901 crumpled ear +HP:0009906 aplasia earlobes hypoplasia +HP:0009906 absent ear lobes underdeveloped +HP:0009906 absent ear lobes small +HP:0009907 attached earlobe +HP:0009907 adherent earlobe +HP:0009904 ear helix prominent +HP:0009904 helix large +HP:0009905 ear helix thin +HP:0002011 abnormality central nervous system +HP:0002011 central disease nervous system +HP:0002011 abnormality central morphological nervous system +HP:0002010 decreased dimension maxilla transverse +HP:0002010 bones decreased jaw upper width +HP:0002010 maxilla narrow +HP:0002010 bones jaw narrow upper +HP:0002010 decreased maxilla width +HP:0002010 bones breadth decreased jaw upper +HP:0002010 hypoplasia maxilla transverse +HP:0002010 deficiency maxillary transverse +HP:0002010 insufficiency maxillary transverse +HP:0002013 emesis +HP:0002013 throwing up +HP:0002013 vomiting +HP:0002012 abdominal abnormality organs +HP:0002012 defects gastrointestinal tract +HP:0002015 poor swallowing +HP:0002015 difficulties swallowing +HP:0002015 deglutition disorder +HP:0002015 dysphagia +HP:0002015 difficulty swallowing +HP:0002014 stool watery +HP:0002014 diarrhea +HP:0002014 diarrhoea +HP:0002017 nausea vomiting +HP:0012238 hyperchylomicronemia +HP:0012238 chylomicrons increased +HP:0012238 chylomicron circulating concentration increased +HP:0012238 chylomicron circulating increased levels +HP:0012239 atransferrinemia +HP:0410223 anti antibody dust ige increased level mite +HP:0410222 anti antibody ige increased level seafood +HP:0410225 anti antibody drug ige increased level +HP:0410224 anti antibody bacteria ige increased level +HP:0410227 allergen anti antibody food ige increased level +HP:0410226 anti antibody feather ige increased level +HP:0012230 detachment retinal rhegmatogenous +HP:0410228 allergen anti antibody based food ige increased level plant +HP:0012232 interval qt shortened +HP:0012233 hematomas intramuscular +HP:0012233 hematoma intramuscular +HP:0012233 haematoma intramuscular +HP:0012233 hemorrhage intramuscular +HP:0012234 agranulocytosis +HP:0012235 agranulocytosis drug induced +HP:0012236 chloride elevated sweat +HP:0012237 acid high levels urine urocanic +HP:0012237 aciduria urocanic +HP:0007193 awakening clonic generalized on seizures tonic +HP:0007193 clonic generalized morning seizures tonic +HP:0007620 cutaneous leiomyomata +HP:0007620 cutaneous leiomyoma +HP:0007620 cutaneous leiomyomas +HP:0007623 anomalies exposed pigmentation skin sun +HP:0007623 abnormal exposed pigmentation skin sun +HP:0007190 cerebral cortex loss neuronal +HP:0007627 agenesis condylar head mandible +HP:0007627 condylar development failure mandible process +HP:0007627 absence condylar head mandible +HP:0007627 condylar development failure head mandible +HP:0007627 agenesis condylar mandible process +HP:0007627 condylar mandible process underdevelopment +HP:0007627 absence condylar mandible process +HP:0007627 absence condylar mandible neck +HP:0007627 condylar mandible neck underdevelopment +HP:0007627 aplasia condyle mandibular +HP:0007627 condylar development failure mandible neck +HP:0007627 condylar head mandible underdevelopment +HP:0007627 agenesis condylar mandible neck +HP:0007626 especially mandible osteomyelitis +HP:0007626 bone infection jaw lower +HP:0007626 mandibular osteomyelitis +HP:0007628 condylar head hypoplasia mandible +HP:0007628 condylar hypoplasia mandible neck +HP:0007628 condyle decreased mandibular size +HP:0007628 condylar hypoplasia mandible process +HP:0007628 condyle hypoplasia mandibular +HP:0007628 condylar decreased mandible process size +HP:0007628 condylar mandible neck small +HP:0007628 hypoplasia mandible region subcondylar +HP:0007628 condylar head mandible small +HP:0007628 condyle hypotrophic mandibular +HP:0007628 condylar hypotrophic mandible process +HP:0007628 condyle mandibular small +HP:0007199 paraparesis progressive spastic +HP:0006865 affecting arms legs more polyneuropathy sensorimotor than +HP:0006866 central lipomas midline nervous system +HP:0004448 failure fulminant hepatic +HP:0006863 delay expressive language severe +HP:0001669 great transposition vessels +HP:0001669 arteries great transposition +HP:0031359 cutaneous plaque sclerotic +HP:0001663 fibrillation ventricular +HP:0001662 heartbeats slow +HP:0001662 brachycardia +HP:0001662 bradycardia +HP:0001660 arteriosus truncus +HP:0001660 arteriosus persistant truncus +HP:0001660 arterial common trunk +HP:0001667 hypertrophy right ventricular +HP:0001667 heart hypertrophy right ventricle +HP:0001664 de pointes torsade +HP:0001664 de pointes torsades +HP:0030623 hyporeflective intraretinal macular oct on spaces +HP:0030622 abnormal foveal macular oct on pit +HP:0030621 foveal inner layer loss macular oct on retinal +HP:0030620 inner layer loss macular oct on retinal +HP:0030627 foveal hyporeflective macular oct on spaces +HP:0030626 foveal hyporeflective intraretinal macular oct on spaces +HP:0030625 hyporeflective macular oct on spaces +HP:0030624 hyporeflective macular oct on spaces subretinal +HP:0007993 ducts malformed tear +HP:0007993 duct lacrimal malformed +HP:0007992 degeneration lattice retinal +HP:0030629 hyperautofluorescence perifoveal ring +HP:0007990 hypoplastic iris stroma +HP:0007990 hypoplasia iris stromal +HP:0007990 hypoplastic iris stoma +HP:0007990 iris stroma underdeveloped +HP:0011905 a hemoglobin reduced +HP:0007994 kalnienk vision +HP:0007994 loss peripheral vision +HP:0007994 field loss peripheral visual +HP:0007994 tunnel vision +HP:0100146 3rd absent epiphysis middle phalanx toe +HP:0100146 3rd absent bone end middle part toe +HP:0100147 3rd bone bracket end middle part shaped toe +HP:0100147 3rd bracket epiphysis middle phalanx toe +HP:0007447 diffuse hyperkeratosis palmoplantar +HP:0100145 3rd distal epiphysis phalanx toe triangular +HP:0100145 3rd bone end outermost part toe triangular +HP:0100142 3rd distal phalanx pseudoepiphysis toe +HP:0007440 generalized hyperpigmentation +HP:0007443 leucoderma partial +HP:0007443 albinism partial +HP:0007443 albinism face limbs on or partial trunk +HP:0007443 absent partial pigmentation skin +HP:0100141 3rd bone density end increased outermost part toe +HP:0100141 3rd distal epiphysis ivory phalanx toe +HP:0011675 abnormalities cardiac conduction +HP:0011675 heartbeat irregular +HP:0011675 arrhythmias cardiac +HP:0011675 arrhythmia +HP:0011675 arrhythmias +HP:0011675 arrhythmia cardiac +HP:0011675 disorders heart rhythm +HP:0011675 cardiac disturbances rhythm +HP:0011675 cardiac conduction defects +HP:0011675 abnormality cardiac conduction +HP:0011675 beat heart irregular +HP:0011675 abnormal heart rate +HP:0007449 confetti hypopigmented like macules +HP:0007448 areas edematous hyperkeratosis over +HP:0100148 3rd cone epiphysis middle phalanx shaped toe +HP:0100148 3rd bone cone end middle part shaped toe +HP:0100149 3rd bone end enlarged middle part toe +HP:0100149 3rd enlarged epiphysis middle phalanx toe +HP:0011677 atrioventricular canal defect fallot tetralogy with +HP:0011676 absent conus fallot subarterial tetralogy with +HP:0025488 detrusor dyssynergia sphincter +HP:0002518 abnormality matter periventricular white +HP:0002518 abnormalities matter periventricular white +HP:0010137 big bone end innermost part toe triangular +HP:0010137 epiphysis hallux phalanx proximal triangular +HP:0001598 nails shaped spoon +HP:0001598 koilonychia +HP:0001598 concave nail +HP:0030728 meromelia +HP:0002519 hallucinations hypnagogic +HP:0001595 abnormality hair +HP:0001595 abnormality hair shaft +HP:0030727 cyst intracranial neurenteric +HP:0001597 disease nail +HP:0001597 abnormality nail +HP:0001596 alopecia +HP:0001596 hair loss +HP:0001591 bell chest shaped +HP:0001591 bell shaped thorax +HP:0001591 bell narrow shaped thorax +HP:0001591 bell constricted shaped thorax +HP:0030723 megalourethra +HP:0001593 hypotrophic incisor lateral upper +HP:0001593 decreased incisor lateral upper width +HP:0001593 incisor lateral maxillary small +HP:0001593 decreased incisor lateral maxillary size +HP:0001593 incisor lateral small upper +HP:0001593 decreased incisor lateral size upper +HP:0001593 incisor lateral maxillary microdontia +HP:0001593 hypotrophic incisor lateral maxillary +HP:0001592 a absence tooth +HP:0001592 a missing tooth +HP:0001592 a development failure tooth +HP:0001592 a agenesis tooth +HP:0001592 agenesis selective tooth +HP:0025612 astigmatism corneal +HP:0012539 hodgkin lymphoma non +HP:0003025 irregularities metaphyseal +HP:0003025 frayed irregular metaphyses +HP:0003025 irregularity metaphyseal +HP:0003025 fraying metaphyseal +HP:0003025 a bone irregular long portion wide +HP:0003025 irregular metaphyses +HP:0031733 reflex tearing +HP:0002747 muscle respiratory weakness +HP:0002747 due failure muscle respiratory to weakness +HP:0002747 decreased due function muscle respiratory to weakness +HP:0002747 breathing decreased due function lung muscles to weak +HP:0002747 distress due muscle respiratory to weakness +HP:0002747 due insufficiency muscle respiratory to weakness +HP:0040112 abnormal number tubercles +HP:0040113 presbycusis +HP:0040113 aged hearing impairment old sensorineural +HP:0040110 abnormality morphological saccule +HP:0040111 bilateral deformity ear external +HP:0040116 absent eustachian tube +HP:0040116 aplasia eustachian tube +HP:0040117 atresia eustachian tube +HP:0040114 absence muscle reflex tensor tympani +HP:0040115 abnormality eustachian tube +HP:0040118 eustachian stenosis tube +HP:0040119 conductive hearing impairment unilateral +HP:0003492 gonadotropin high level urinary +HP:0005746 base osteosclerosis skull +HP:0005151 aortic coarctation proximal +HP:0005151 aorta coarctation preductal +HP:0005108 abnormality disk intervertebral +HP:0005109 abnormality achilles tendon +HP:0005109 abnormality calcaneal tendon +HP:0005106 abnormality endplates vertebral +HP:0005107 abnormality sacrum +HP:0005107 abnormal morphology sacrum +HP:0005104 nose septum small +HP:0005104 nasal septum small +HP:0005104 hypoplastic nasal septum +HP:0005104 hypoplasia nose septum +HP:0005104 decreased nasal septum size +HP:0005104 decreased nose septum size +HP:0005105 abnormal nose shape +HP:0005105 abnormal nasal shape +HP:0005105 abnormal morphology nasal +HP:0005105 abnormal morphology nose +HP:0005102 cochlear degeneration +HP:0005102 cochlear degeneration progressive +HP:0005103 cartilaginous ossification pinnae +HP:0005103 calcification cartilage ear +HP:0005103 auricular calcification cartilage +HP:0005103 ossification pinnae +HP:0005103 ear petrified +HP:0005100 birth fetal following membranes premature rupture +HP:0005101 frequency hearing high loss +HP:0005101 frequency hearing high impairment +HP:0005101 deafness frequency high +HP:0005101 frequency hearing high loss progressive +HP:0004681 groove longitudinal on soles +HP:0004681 crease foot +HP:0004681 crease deep longitudinal plantar +HP:0030292 irregularity metaphyseal tibial +HP:0006719 benign gastrointestinal tract tumors +HP:0006719 cancerous gi non tumors +HP:0006712 absent ribs underdeveloped +HP:0006712 hypoplastic missing or ribs +HP:0006712 aplasia hypoplasia ribs +HP:0006712 absent ribs small +HP:0006713 aplasia hypoplasia scapulae +HP:0006713 absent blade shoulder small +HP:0006713 absent blade shoulder underdeveloped +HP:0006710 absent collarbone small +HP:0006710 aplasia clavicles hypoplasia +HP:0006710 absent collarbone underdeveloped +HP:0006711 absent bone outermost small thorax +HP:0006711 absent bone thorax underdeveloped +HP:0006711 aplasia bones hypoplasia involving thorax +HP:0006716 carcinoma colorectal hereditary nonpolyposis +HP:0006717 neuroepithelioma peripheral +HP:0006714 absent sternum underdeveloped +HP:0006714 aplasia hypoplasia sternum +HP:0006714 absent small sternum +HP:0006715 glomus paraganglioma tympanicum +HP:0006715 nerve tumor tympanic +HP:0006715 nerve tumors tympanic +HP:0000301 facial issue muscle +HP:0000301 abnormality facial musculature +HP:0000301 abnormality facial muscles +HP:0001849 missing toes +HP:0001849 feet oligodactyly +HP:0001849 foot oligodactyly +HP:0001848 calcaneovalgus +HP:0001848 calcaneovalgus foot +HP:0001848 ankle bend foot leg shin toward up +HP:0001848 calcaneovalgus deformity +HP:0001848 calcaneus position valgus +HP:0001847 halluces long +HP:0001847 hallux increased length +HP:0001847 big long toe +HP:0001847 halluces large +HP:0001847 hallux long +HP:0001845 overlapping toes +HP:0001845 overriding toes +HP:0001845 overlapping toe +HP:0001845 crossover toe +HP:0001844 abnormality hallux +HP:0001844 abnormality big toe +HP:0001844 abnormalities hallux +HP:0001842 acroosteolysis foot +HP:0001842 acroosteolysis feet +HP:0001841 big complete duplication partial phalanges toe +HP:0001841 affecting hallux polydactyly +HP:0001841 foot polydactyly preaxial +HP:0001841 feet polydactyly preaxial +HP:0001841 hallucal polydactyly preaxial +HP:0001840 metatarsus varus +HP:0001840 adductovarsus metatarsus +HP:0001840 intoe +HP:0001840 forefoot varus +HP:0001840 adductus metatarsus +HP:0001840 foot front half inward turns +HP:0010168 epiphyses ivory toes +HP:0010168 bone density end increased part toes +HP:0010169 pseudoepiphyses toes +HP:0010166 bones end fragmentation part toe +HP:0010166 epiphyses fragmentation toes +HP:0010167 bones end irregular part toe +HP:0010167 epiphyses irregular toes +HP:0010164 bones cone end part shaped toe +HP:0010164 cone epiphyses shaped toes +HP:0010165 enlarged epiphyses toes +HP:0010165 bones end enlarged part toe +HP:0010162 absent epiphyses toes +HP:0010162 absent bones end part toe +HP:0010163 bracket epiphyses toes +HP:0010163 bones bracket end part shaped toe +HP:0010160 abnormality epiphyses toes +HP:0010160 abnormality bones end part toe +HP:0010161 abnormality phalanges toes +HP:0010161 abnormality bones long toes +HP:0025427 abnormal bronchus physiology +HP:0002102 pleurisy +HP:0002102 pleuritis +HP:0002102 chest inflammation lining lungs tissues +HP:0031099 abnormal circulating inhibin level +HP:0003202 atrophy muscle +HP:0003202 amyotrophy extremities involving +HP:0003202 muscle wasting +HP:0003202 atrophy muscular +HP:0003202 atrophy muscle skeletal +HP:0003202 degeneration muscle +HP:0003202 hypotrophy muscle +HP:0003202 atrophy muscle neurogenic +HP:0003202 atrophy muscular neurogenic +HP:0003202 atrophy especially limbs lower muscle neurogenic +HP:0003202 amyotrophy +HP:0031097 abnormal hormone level stimulating thyroid +HP:0031097 abnormal circulating concentration thyrotropin +HP:0031097 abnormal level tsh +HP:0031097 abnormal level thyrotropin +HP:0031096 delayed ossification vertebral +HP:0031095 abnormal humerus morphology +HP:0031094 abnormal breast physiology +HP:0031093 abnormal breast morphology +HP:0031092 finger shaped spindle +HP:0031091 dactylitis toe +HP:0031091 sausage toes +HP:0031090 dactylitis finger +HP:0031090 fingers sausage +HP:0003200 mitochondrial muscle proliferation tissue +HP:0003200 fibers ragged red +HP:0003200 fibers muscle ragged red +HP:0001474 scapulae sclerotic +HP:0025423 abnormal larynx morphology +HP:0000308 microretrognathia +HP:0000308 retromicrognathia +HP:0009291 absent bone finger outermost ring +HP:0009291 4th aplasia distal finger phalanx +HP:0025422 cyst pleural +HP:0004686 metatarsal short third +HP:0004686 3rd bone foot long short +HP:0004686 3rd bone hypoplasia metatarsal +HP:0002101 abnormal lobation lung +HP:0002101 defects lung segmentation +HP:0002101 defective lobation lung +HP:0025421 pneumomediastinum +HP:0008277 abnormality homeostasis zinc +HP:0008277 abnormal metabolism zinc +HP:0003204 accumulation autofluorescent intracellular lipopigment material storage +HP:0004684 talipes valgus +HP:0002100 aspiration pneumonia recurrent +HP:0007269 atrophy muscular spinal +HP:0007269 muscle spinal wasting +HP:0007269 degeneration muscle spinal +HP:0031891 count decreased eosinophil +HP:0006645 clavicles thin +HP:0006645 collarbone thin +HP:0040278 prolactinoma +HP:0006646 calcification cartilage costal +HP:0006646 cartilaginous ossification rib +HP:0031899 abnormal activity coagulation factor v +HP:0031899 abnormal activity factor v +HP:0031898 formation increased rouleaux +HP:0031898 formation rouleaux +HP:0009289 4th aplasia distal finger hypoplasia phalanx +HP:0009289 absent bone finger outermost ring small +HP:0009289 absent bone finger outermost ring underdeveloped +HP:0009288 bone curved finger innermost ring +HP:0009288 4th curved finger phalanx proximal +HP:0005743 disease legg perthes +HP:0005743 femoral head osteochondrosis +HP:0005743 avascular capital epiphysis femoral necrosis +HP:0005743 calve legg perthes syndrome +HP:0005743 calve legg morbus perthes +HP:0005743 changes femoral head like perthes +HP:0005743 coxa plana +HP:0012497 expiratory maximal pressure reduced +HP:0003999 abnormality epiphyseal plates radial +HP:0003999 abnormality epiphyses radial +HP:0003998 constricted neck radial +HP:0003997 head hypoplastic radial +HP:0003997 head radial small +HP:0003996 flattened head radial +HP:0003995 abnormality head radial +HP:0003995 deformity heads radial +HP:0003994 dislocations wrists +HP:0003994 dislocated wrist +HP:0003993 ulna wide +HP:0003993 broad ulna +HP:0003992 slender ulna +HP:0003991 sclerotic ulna +HP:0003991 osteosclerosis ulna +HP:0003990 pointed ulna +HP:0002572 episodic vomiting +HP:0002572 frequent vomiting +HP:0002573 bleeding rectal recurrent +HP:0002573 hematochezia +HP:0002573 bleeding rectal +HP:0002570 fat feces +HP:0002570 steatorrhea +HP:0002571 achalasia +HP:0002571 achalasia esophagus +HP:0002576 intussusception +HP:0002577 abnormality stomach +HP:0002574 abdominal episodic pain +HP:0002574 abdominal intermittent pain +HP:0002575 fistula tracheoesophageal +HP:0002575 abnormal between connection esophagus trachea +HP:0010782 dimples shoulder +HP:0010783 membrane mucous or redness skin +HP:0010783 erythema +HP:0002578 gastroparesis +HP:0002578 delayed emptying gastric +HP:0010781 dimples skin +HP:0010786 neoplasm tract urinary +HP:0010786 neoplasia tract urinary +HP:0010787 genital neoplasm +HP:0010787 genital tumor +HP:0010787 genital neoplasia +HP:0010784 tumor uterine +HP:0010784 neoplasm uterine +HP:0010784 neoplasia uterine +HP:0010784 cancer uterine +HP:0010785 gonadal neoplasm +HP:0010785 gonadal neoplasia +HP:0000718 aggression physical +HP:0000718 aggressive behaviour +HP:0000718 aggressive behavior +HP:0000718 aggression +HP:0000718 aggressiveness +HP:0000719 behavior inappropriate +HP:0100363 4th absent bones toe +HP:0100363 4th aplasia phalanges toe +HP:0000716 depressivity +HP:0000716 depression +HP:0000716 depressive disorder +HP:0000717 autism +HP:0000710 hyperorality +HP:0000710 hyperoralia +HP:0000711 restlessness +HP:0000712 emotional lability +HP:0000712 emotional instability +HP:0000713 agitation +HP:0008523 back ear indentation outer +HP:0008523 ear helical notch posterior +HP:0008523 helix pit posterior +HP:0008523 ear groove helical posterior +HP:0008523 aspect ear helices pits posterior +HP:0011375 absent cochlea +HP:0011375 aplasia cochlear +HP:0008527 deafness sensorineural +HP:0008527 hearing loss sensorineural +HP:0008527 bilateral deafness sensorineural +HP:0008527 deafness perceptive +HP:0008527 deafness neurosensory +HP:0008527 hearing impairment sensorineural +HP:0011568 double mitral orifice valve +HP:0011793 anatomical by neoplasm site +HP:0011565 atrium common +HP:0011565 atrium single +HP:0008945 ability childhood early loss to walk +HP:0008529 absent ear middle reflexes +HP:0008529 absence acoustic reflex +HP:0008529 absence acoustic ear middle muscle reflexes +HP:0008528 from growing hairs helix long pinna +HP:0008528 ear hair +HP:0008528 ear from growing hairs helix long +HP:0011561 atrioventricular overriding valve +HP:0011560 atresia mitral +HP:0011560 atresia mitral valve +HP:0011563 abnormal connection ventriculoarterial +HP:0011563 abnormal arterial connection ventriculo +HP:0011562 atrioventricular straddling valve +HP:0003196 nose short +HP:0003196 nose shortened +HP:0003196 nose small +HP:0003196 hypoplastic nose +HP:0003196 decreased length nose +HP:0003196 hypoplasia nasal +HP:0004411 crooked nose septum +HP:0004411 deviated nasal septum +HP:0004411 deviated nose septum +HP:0004411 crooked nasal septum +HP:0003194 bridge nasal short +HP:0003194 bridge decreased length nasal +HP:0003194 bridge decreased length nose +HP:0003194 bridge nose short +HP:0003193 hayfever +HP:0003193 fever hay +HP:0003193 allergic rhinitis +HP:0003193 allergies nasal +HP:0004416 atherosclerosis premature +HP:0004416 atherosclerosis precocious +HP:0004416 arteries build plaque premature up +HP:0003191 alae cleft nasal +HP:0003191 alae nasal notched +HP:0003191 alar clefts +HP:0003191 coloboma nostril +HP:0003191 cleft nostril +HP:0003191 ala cleft nasi +HP:0004414 abnormality artery pulmonary +HP:0004414 abnormality artery lung +HP:0004419 recurrent thrombosis +HP:0004419 recurrent thrombophlebitis +HP:0004419 phlebitis recurrent +HP:0004418 thrombophlebitis +HP:0003199 decreased mass muscle +HP:0003199 muscles underdeveloped +HP:0003198 myopathy +HP:0003198 changes myopathic +HP:0003198 disease muscle tissue +HP:0002716 lymphadenopathy +HP:0002716 lymph nodes swollen +HP:0002716 hyperplasia lymph node +HP:0002717 adrenal overactivity +HP:0002714 downturned mouth +HP:0002714 corners downturned mouth +HP:0002714 commisures downturned oral +HP:0002715 abnormality immune system +HP:0002715 abnormality immunological +HP:0011790 activating defect tshr +HP:0011790 activating defect hormone receptor stimulating thyroid +HP:0002710 commissural pit +HP:0002710 commissural labial pits +HP:0002710 at corners lip mouth pits +HP:0002710 commissural lip pit +HP:0002710 at corners lips pits +HP:0002711 deep groove lingual median +HP:0002711 central deep groove lingual +HP:0002711 central deep groove tongue +HP:0002711 central deep furrow tongue +HP:0002711 central deep furrow lingual +HP:0002711 deep furrow median tongue +HP:0002711 exaggerated furrow median tongue +HP:0002711 deep furrow lingual median +HP:0002711 deep groove median tongue +HP:0002711 exaggerated furrow lingual median +HP:0002718 infection pyogenic susceptibility to +HP:0002718 bacterial frequent infections +HP:0002718 bacterial infections major recurrent +HP:0002718 bacterial infections recurrent +HP:0002718 infections pyogenic recurrent +HP:0002718 bacterial increased infections susceptibility to +HP:0002718 frequent infections pyogenic +HP:0002718 bacterial infection prone to +HP:0002719 frequent infections severe +HP:0002719 infections recurrent +HP:0002719 frequent infections +HP:0002719 frequency increased infection +HP:0002719 infections predisposition to +HP:0002719 infection susceptibility to +HP:0100449 3rd bone curved outermost toe +HP:0100449 3rd curved distal phalanx toe +HP:0100448 bone curved innermost little toe +HP:0100448 bone curved innermost pinkie toe +HP:0100448 bone curved innermost pinky toe +HP:0100448 5th curved phalanx proximal toe +HP:0008428 clefts vertebral +HP:0008428 clefting vertebral +HP:0100443 3rd curved middle phalanx toe +HP:0100443 3rd bone curved middle toe +HP:0100442 5th bullet distal phalanx shaped toe +HP:0100442 bone bullet outermost pinkie shaped toe +HP:0100442 bone bullet little outermost shaped toe +HP:0100442 bone bullet outermost pinky shaped toe +HP:0008424 5th hypoplastic lumbar vertebrae +HP:0008424 5th lumbar underdeveloped vertebrae +HP:0008425 bodies cuboid shaped thoracolumbar vertebral +HP:0008422 shaped vertebrae wedge +HP:0008422 vertebral wedging +HP:0008423 dysplasia spinal +HP:0008420 calcifications punctate vertebral +HP:0008421 bodies lumbar tall vertebral +HP:0011781 c cell hyperplasia thyroid +HP:0011780 hemiagenesis thyroid +HP:0011783 ectopic from thyroid thyrotoxicosis tissue +HP:0011782 crisis thyroid +HP:0011785 goitre multinodular thyrotoxicosis toxic with +HP:0011784 diffuse goiter thyrotoxicosis with +HP:0011784 diffuse goitre thyrotoxicosis with +HP:0011787 central hypothyroidism +HP:0011786 nodule single thyroid thyrotoxicosis toxic with +HP:0011789 defect hormone receptor stimulating thyroid +HP:0011789 defect tshr +HP:0011788 ft3 increased serum +HP:0011788 free increased serum triiodothyronine +HP:0032016 abnormal sputum +HP:0032016 abnormal morphology sputum +HP:0032017 eosinophilia sputum +HP:0032014 dysmetric saccades vertical +HP:0032015 dysmetric horizontal saccades +HP:0032012 heterotropia +HP:0032013 horizontal hypermetric saccades +HP:0032010 basic constant exotropia +HP:0032011 heterophoria +HP:0003490 butyryl coa defective dehydrogenation isovaleryl +HP:0008279 hyperlipidemia transient +HP:0032018 mononeuritis multiplex +HP:0032018 mononeuropathy multiple +HP:0032019 eosinophilic infiltration muscle skeletal 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dysgammaglobulinemia +HP:0002960 autoimmune disease +HP:0002960 autoimmunity +HP:0002960 autoimmune condition +HP:0002960 autoimmune disorder +HP:0002963 abnormal delayed hypersensitivity skin test +HP:0010315 absent diaprhagm small +HP:0010315 aplasia diaphragm hypoplasia +HP:0010315 absent diaprhagm underdeveloped +HP:0010314 breast development premature +HP:0010314 premature thelarche +HP:0010317 absent scapula +HP:0010317 absent blade shoulder +HP:0010317 aplasia scapular +HP:0010316 anomaly ebstein s +HP:0010316 ebstein malformation s +HP:0010316 anomaly ebstein s tricuspid valve +HP:0010316 anomaly ebstein tricuspid valve +HP:0010311 absent breasts underdeveloped +HP:0010311 aplasia breasts hypoplasia +HP:0010311 absent breasts small +HP:0010310 chylothorax +HP:0010313 breast hypertrophy +HP:0010313 macromastia +HP:0010313 gigantomastia +HP:0010313 breasts hypertrophy +HP:0010312 asymmetry breasts +HP:0031282 great malalignment toenail +HP:0031283 hairs tufted +HP:0031280 gonadotropin hormone increased lh releasing response stimulation test to +HP:0031281 sialadenitis +HP:0010319 2nd abnormality toe +HP:0031287 keratosis seborrheic +HP:0031287 basal cell papilloma +HP:0031287 senile wart +HP:0031287 seborrheic verruca +HP:0031284 flushing +HP:0031285 abnormal morphology perifollicular +HP:0003382 changes hypertrophic nerve +HP:0003383 bulb formations onion +HP:0003383 bulb formation onion +HP:0003380 fibers loss myelinated +HP:0003380 decreased fibers large myelinated number small +HP:0003380 decreased fibers myelinated nerve number peripheral +HP:0003387 fibers larger loss myelinated nerve +HP:0003387 decreased fibers large myelinated nerve number peripheral +HP:0003387 depletion fibers large myelinated +HP:0003387 fibers large loss myelinated +HP:0003384 atrophy axonal peripheral +HP:0003388 easily tired +HP:0003388 easy fatigability +HP:0010057 abnormality hallux phalanges +HP:0010057 abnormal big bones toe +HP:0005701 enchondromatosis multiple 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central incisor permanent upper +HP:0011045 central incisor missing permanent upper +HP:0011045 adult agenesis central incisor maxillary +HP:0009242 5th defects distal finger osteolytic phalanx +HP:0002033 poor sucking +HP:0002033 poor suck +HP:0002032 atresia esophageal +HP:0002031 abnormal esophagus morphology +HP:0002031 abnormality esophagus morphology +HP:0002031 anomaly esophagus +HP:0009927 nose underdevelopment +HP:0009927 arrhinia +HP:0009927 aplasia nose +HP:0009927 development failure nose +HP:0009927 absent nose +HP:0009927 nasal underdevelopment +HP:0009927 missing nose +HP:0002037 inflammation intestine large +HP:0002037 bowel disease inflammatory +HP:0002036 hernia hiatal +HP:0002036 hernia hiatus +HP:0002036 hernia stomach +HP:0002035 anus protrudes rectum through +HP:0002035 prolapsed rectal +HP:0002035 prolapse rectal +HP:0002034 anomaly rectum +HP:0002034 abnormality rectum +HP:0410203 barbiturate fluid gastric positive test +HP:0410202 barbiturate positive stool 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cell disease horn +HP:0006802 abnormality anterior cells horn +HP:0006802 anomaly anterior cells horn +HP:0006802 abnormal anterior cell horn morphology +HP:0006803 hallucinations vivid +HP:0006801 deep hyperactive reflexes tendon +HP:0006801 brisk deep reflexes tendon +HP:0040134 abnormal concentration hepatic iron +HP:0040134 abnormal iron level liver +HP:0040134 abnormal concentration iron liver +HP:0040135 abnormal saturation transferrin +HP:0040137 acne comedonal +HP:0040137 acne comedogenic +HP:0040130 abnormal iron serum +HP:0040131 abnormal conduction motor nerve velocity +HP:0040132 abnormal conduction nerve sensory velocity +HP:0040133 abnormal ferritin plasma +HP:0040133 abnormal ferritin serum +HP:0040138 histiocytosis mucinous +HP:0040139 lipogranulomatosis +HP:0003023 bowed due fractures limbs multiple to +HP:0003023 bowing due fractures limbs multiple to +HP:0004209 curvature finger pinky +HP:0004209 clinodactyly fifth finger +HP:0004209 curvature finger little 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single +HP:0000954 line simian +HP:0000954 crease simian +HP:0000954 crease palmar single transverse +HP:0000954 creases palmar single +HP:0000954 creases simian +HP:0000954 crease palmar transverse +HP:0002920 acth circulating decreased level +HP:0005129 hypertrophy left ventricle +HP:0000958 xerosis +HP:0000958 dry skin +HP:0031111 cutaneous hamartoma +HP:0031111 hamartoma skin +HP:0002923 factor positive rheumatoid +HP:0004429 infections recurrent viral +HP:0006739 carcinoma cell skin squamous +HP:0006739 carcinoma skin squamous +HP:0006735 adenoma cortical kidney +HP:0006735 adenoma cortical renal +HP:0006737 extraadrenal pheochromocytoma +HP:0006731 carcinoma follicular thyroid +HP:0006732 2 carcinoma cell papillary renal type +HP:0006733 acute leukemia megakaryocytic +HP:0006733 amegl +HP:0012422 choroid hypertrophy plexus villous +HP:0012422 choroid diffuse hypertrophy plexus villous +HP:0012422 choroid hypertrophy plexus +HP:0002927 histidinuria +HP:0002927 high histidine levels urine +HP:0002926 abnormal function thyroid +HP:0002926 abnormality physiology thyroid +HP:0010140 big bone cone end outermost part shaped toe +HP:0010140 cone distal epiphysis hallux phalanx shaped +HP:0010351 2nd defects osteolytic phalanges toe +HP:0010142 distal epiphysis fragmentation hallux phalanx +HP:0010142 big bone end fragmentation outermost part toe +HP:0010143 distal epiphysis hallux irregular phalanx +HP:0010143 big bone end irregular outermost part toe +HP:0010144 big bone density end increased outermost part toe +HP:0010144 distal epiphysis hallux ivory phalanx +HP:0010145 distal hallux phalanx pseudoepiphysis +HP:0010146 distal epiphysis hallux phalanx small +HP:0010146 big bone end outermost part small toe +HP:0010350 2nd curved phalanx toe +HP:0010350 2nd bones curved toe +HP:0010350 2nd curved phalanges toe +HP:0010148 big bone end outermost part toe triangular +HP:0010148 distal epiphysis hallux phalanx triangular +HP:0010149 1st absent epiphysis metatarsal +HP:0010149 1st absent bone end foot long part +HP:0009100 alveolar anterior jaw process thick +HP:0009100 alveolar anterior ridges thick +HP:0007824 ophthalmoplegia total +HP:0007824 external internal ophthalmoplegia total +HP:0007824 gaze global paralysis +HP:0007824 complete ophthalmoplegia +HP:0005384 activation b cell defective +HP:0031070 decreased femoral torsion +HP:0005386 infections protozoan recurrent +HP:0005387 combined immunodeficiency +HP:0031075 abnormal insulin response test to tolerance +HP:0005381 increased infections meningitidis neisseria susceptibility to +HP:0005381 disease meningococcal recurrent +HP:0031077 abnormal corticotropin hormone releasing response stimulation test to +HP:0031077 abnormal crh response stimulation test to +HP:0031076 cortisol impaired insulin response stimulation test to +HP:0031079 growth hormone impaired insulin response stimulation test to +HP:0011518 dichromacy +HP:0005389 alternative complement components depletion pathway +HP:0010822 scintillating scotoma +HP:0005135 abnormal t wave +HP:0005135 abnormalities ekg t wave +HP:0005135 abnormalities t wave +HP:0010357 2nd abnormality bone middle toe +HP:0010357 2nd abnormality middle phalanx toe +HP:0010356 2nd abnormality bone outermost toe +HP:0010356 2nd abnormality distal phalanx toe +HP:0025244 epithelium haemorrhage pigment subretinal +HP:0025244 epithelium hemorrhage pigment subretinal +HP:0009758 base extending from nails pyramidal skinfold to top +HP:0012818 biventricular cardiomyopathy noncompaction +HP:0012819 myocarditis +HP:0012810 base broad nasal +HP:0012810 base nose wide +HP:0012810 base broad nose +HP:0012810 base nasal wide +HP:0012810 base increased nasal width +HP:0012810 base increased nose width +HP:0012811 broad dorsum nasal +HP:0012811 nasal ridge wide +HP:0012811 dorsum increased nose width +HP:0012811 increased nasal ridge width +HP:0012811 dorsum increased nasal width +HP:0012811 dorsum nose wide +HP:0012811 broad nasal ridge +HP:0012811 broad dorsum nose +HP:0012811 dorsum nasal wide +HP:0012812 around nose thick tissue +HP:0012812 built laterally nose up +HP:0012812 around fullness nose tissue +HP:0012812 hypertrophy paranasal tissue +HP:0012812 fullness paranasal +HP:0012812 hyperplasia paranasal tissue +HP:0012812 fullness paranasal tissue +HP:0012812 paranasal thick tissue +HP:0004890 artery increased pressure pulmonary +HP:0004890 artery elevated pressure pulmonary +HP:0004890 artery elevated lung pressure +HP:0012814 breasts two underdeveloped +HP:0012814 bilateral breast hypoplasia +HP:0012815 external female genitalia underdeveloped +HP:0012815 external female genitalia hypoplastic +HP:0012816 cardiomyopathy noncompaction right ventricular +HP:0012817 cardiomyopathy noncompaction +HP:0012817 cardiomyopathy spongiform +HP:0012817 myocardium noncompaction ventricular +HP:0008093 4th short toe +HP:0008093 fourth short toe +HP:0008090 ankylosis feet joints small +HP:0008097 fusion partial tarsals +HP:0008096 deviated medially second toe +HP:0008095 osteolysis tali +HP:0008095 osteolysis talus +HP:0008094 spaced toes widely +HP:0100894 broad xiphisternum +HP:0100894 broad process xiphoid +HP:0100896 multiple polyps rectal +HP:0100896 polyposis rectal +HP:0100896 polyps rectal +HP:0100890 choledochal cyst +HP:0100890 choledochus cyst ductus +HP:0100891 bifid xiphisternum +HP:0100891 bifid process xiphoid +HP:0100892 abnormality process xiphoid +HP:0100541 femoral hernia +HP:0100541 crural hernia +HP:0003971 bones broad forearm +HP:0003971 bones forearm wide +HP:0003970 bones forearm undermodelled +HP:0003973 joints radioulnar wide +HP:0003973 broad joints radioulnar +HP:0003974 absent radius +HP:0003974 absence radius ulna +HP:0003974 absence absent ossification radius +HP:0003974 aplasia radius +HP:0003974 aplasia radial +HP:0003974 bone forearm large missing outer +HP:0003977 deformed radius +HP:0003976 constricted radius +HP:0003979 defects lytic radius +HP:0003978 fractured radius +HP:0002743 enteroviral infections recurrent +HP:0003609 bodies cells foam inclusion lamellar with +HP:0002555 absent hair pubic +HP:0002557 nipples small +HP:0002557 hypoplasia nipple +HP:0002557 hypoplastic nipples +HP:0002550 absent facial hair +HP:0002552 trichodysplasia +HP:0002552 generalized trichodysplasia +HP:0002553 eyebrows flared thick +HP:0002553 arched eyebrow highly +HP:0002553 arched broad eyebrows +HP:0002553 eyebrows high rounded +HP:0002553 arched eyebrows +HP:0002553 bowed eyebrows slanting upward +HP:0002553 arched eyebrows high +HP:0002745 idiopathic oral patch white +HP:0002745 idiopathic leukoplakia oral +HP:0002745 oral patch white +HP:0002745 leukokeratosis +HP:0002745 leukokeratosis oral +HP:0002745 leukoplasia oral +HP:0002745 leukoplakia oral +HP:0002745 idiopathic keratosis oral +HP:0002745 leucoplakia oral +HP:0002745 oral plaque white +HP:0002558 accessory mamillas +HP:0002558 accessory nipples +HP:0002558 nipples supernumerary +HP:0002558 nipple supernumerary +HP:0002558 accessory nipple +HP:0002558 accessory mamilla +HP:0002558 increased nipple number +HP:0006509 diverticulum tracheal +HP:0006509 diverticulosis trachea +HP:0002744 bilateral cleft lip palate +HP:0002744 cleft left lip palate right +HP:0000776 diaphragmatic hernia +HP:0000777 abnormality thymus +HP:0000777 hypoplasia thymic +HP:0000774 anterior chest diameter posterior reduced +HP:0000774 chest circumference low +HP:0000774 chest narrow +HP:0000774 narrow shoulders +HP:0000774 narrow thorax +HP:0000775 defect diaphragmatic +HP:0000775 abnormality diaphragm +HP:0000775 diaphragm issues +HP:0000772 abnormalities rib +HP:0000772 anomalies rib +HP:0000772 abnormality ribs +HP:0000773 hypoplastic ribs +HP:0000773 hypoplasia rib +HP:0000773 ribs short +HP:0000771 gynecomastia +HP:0000771 breast enlarged male +HP:0000771 gynaecomastia +HP:0000778 small thymus +HP:0000778 hypoplasia thymus +HP:0100766 abnormal lymphatic morphology vessel +HP:0100766 abnormality lymphatic vessels +HP:0011230 eyebrow increased lateral length +HP:0011230 elongated eyebrow laterally +HP:0011230 extended eyebrows laterally +HP:0011230 extended eyebrow laterally +HP:0011545 cardiac connection discordant segments +HP:0011545 abnormal cardiac connection segments +HP:0011544 l looping right ventricle +HP:0008541 displaced ears superiorly +HP:0008541 ears high set +HP:0100763 abnormality lymphatic system +HP:0100763 disease lymphatic +HP:0100760 clubbed toes +HP:0100760 clubbing toes +HP:0100760 clubbing feet +HP:0011236 angulated antihelix +HP:0011239 antihelix crus inferior underdeveloped +HP:0011239 antihelix crus hypotrophic inferior +HP:0011239 antihelix crus hypoplastic inferior +HP:0011238 antihelix crus hypertrophic inferior +HP:0011238 antihelix crus hyperplastic inferior +HP:0011238 antihelix crus inferior prominent +HP:0004381 aortic stenosis supravalvular +HP:0004380 aortic calcification valve +HP:0004387 enterocolitis +HP:0004386 gastrointestinal inflammation +HP:0004385 diarrhea protracted +HP:0011548 absent atrioventricular connection right sided +HP:0009155 5th angel epiphysis finger phalanx proximal shaped +HP:0009155 bone cone end finger innermost part pinkie shaped +HP:0009155 bone cone end finger innermost little part shaped +HP:0009155 cone epiphysis finger little phalanx proximal shaped +HP:0009155 5th cone epiphysis finger phalanx proximal shaped +HP:0009155 bone cone end finger innermost part pinky shaped +HP:0004474 anterior fontanelle open persistent +HP:0004474 anterior fontanel open persistent +HP:0004474 fontanelle front open stays +HP:0004474 adults anterior fontanelle open +HP:0009157 bone density end finger increased innermost part pinkie +HP:0009157 5th epiphysis finger ivory phalanx proximal +HP:0009157 epiphysis finger ivory little phalanx proximal +HP:0009157 bone density end finger increased innermost little part +HP:0009157 bone density end finger increased innermost part pinky +HP:0004476 absent area congenita cutis over parietal +HP:0004476 aplasia area congenita cutis over parietal +HP:0004471 aplasia congenita cutis over scalp vertex +HP:0004471 absent congenita cutis vertex +HP:0004471 aplasia congenita cutis vertex +HP:0004470 atretic cephalocele occipital +HP:0009153 abnormality bone end finger innermost little part +HP:0009153 abnormality bone end finger innermost part pinkie +HP:0009153 abnormality bone end finger innermost part pinky +HP:0009153 5th abnormality epiphysis finger phalanx proximal +HP:0004472 increased jaw lower ossification +HP:0004472 hyperostosis jaw lower +HP:0004472 hyperostosis mandibular +HP:0004472 bone excessive growth mandibular +HP:0004472 increased mandible ossification +HP:0004472 bone increased mandibular ossification +HP:0004472 bone mandibular overgrowth +HP:0004472 bone jaw lower thick +HP:0004472 bone mandibular thick +HP:0004472 bone hyperostosis mandibular +HP:0009159 bone end finger innermost part pinkie small +HP:0009159 5th epiphysis finger phalanx proximal small +HP:0009159 bone end finger innermost little part small +HP:0009159 bone end finger innermost part pinky small +HP:0004478 encephalocele ethmoidal +HP:0006500 abnormality epiphyses involving limbs lower +HP:0006500 abnormal bone end limb lower part shape +HP:0006500 abnormality epiphysis limb lower morphology +HP:0008400 detachment fingernails outermost +HP:0008400 distal fingernails onycholysis +HP:0008401 onychogryposis toenails +HP:0008401 curving overgrowth toenails +HP:0008402 fingernails ridged +HP:0008402 fingernails grooved longitudinally +HP:0008402 fingernail ridged +HP:0008404 dystrophy nail +HP:0008404 onychodystrophy +HP:0008404 formation nail poor +HP:0008404 dystrophic nails +HP:0100428 3rd broad phalanx proximal toe +HP:0100428 3rd bone innermost toe wide +HP:0008407 curved nail thumb tightly +HP:0008407 hyperconvex nails thumb +HP:0100425 3rd bone broad middle toe +HP:0100425 3rd broad middle phalanx toe +HP:0100424 bone duplication innermost partial pinky toe +HP:0100424 duplication fifth partial phalanx proximal toe +HP:0100424 bone duplication innermost partial pinkie toe +HP:0100424 5th duplication partial phalanx proximal toe +HP:0100424 bone duplication innermost little partial toe +HP:0100427 bone broad middle pinkie toe +HP:0100427 5th broad middle phalanx toe +HP:0100427 bone broad middle pinky toe +HP:0100427 bone broad little middle toe +HP:0100426 4th bone broad middle toe +HP:0100426 4th broad middle phalanx toe +HP:0100421 bone duplication little middle partial toe +HP:0100421 5th duplication middle partial phalanx toe +HP:0100421 bone duplication middle partial pinky toe +HP:0100421 bone duplication middle partial pinkie toe +HP:0100421 duplication fifth middle partial phalanx toe +HP:0100420 4th duplication middle partial phalanx toe +HP:0100420 4th bone duplication middle partial toe +HP:0100420 duplication fourth middle partial phalanx toe +HP:0100423 4th duplication partial phalanx proximal toe +HP:0100423 4th bone duplication innermost partial toe +HP:0005419 activation cell decreased t +HP:0005419 activation cell defective t +HP:0005419 activation decreased lymphocyte t +HP:0005419 depletion lymphocytes profound t4 +HP:0032039 abnormality adnexa ocular +HP:0011778 adenoma atypical thyroid +HP:0032030 canthal lateral laxity tendon +HP:0032031 canthal laxity medial tendon +HP:0032032 eyelid horizontal laxity +HP:0032033 eyelid laxity vertical +HP:0032034 eyelid laxity upper +HP:0032035 eyelid laxity lower +HP:0032036 abnormal contrast sensitivity +HP:0032037 acuity mildly reduced visual +HP:0032037 loss mild vision +HP:0032037 acuity mild reduction visual +HP:0032037 loss mild visual +HP:0012427 anteversion excessive femoral +HP:0000175 cleft hard palate soft +HP:0000175 cleft palate secondary +HP:0000175 cleft palate +HP:0000175 palatoschisis +HP:0000175 uranostaphyloschisis +HP:0000175 cleft mouth roof +HP:0005416 b complement decreased factor serum +HP:0005416 b decreased factor serum +HP:0011353 arterial fibrosis intimal +HP:0011353 fibrosis intimal +HP:0030090 abnormal expression fiber merosin muscle +HP:0030091 absent fiber merosin muscle +HP:0030091 absent biopsy merosin muscle staining +HP:0030091 2 absent alpha fiber laminin muscle +HP:0030092 fiber merosin muscle reduced +HP:0030093 1 abnormal beta fiber laminin muscle +HP:0030094 1 beta fiber laminin muscle reduced +HP:0030095 6 collagen muscle reduced +HP:0030095 collagen muscle reduced vi +HP:0030096 abnormal dystrophin expression fiber muscle +HP:0100473 3rd bone fused innermost toe +HP:0100473 3rd affecting phalanx proximal symphalangism toe +HP:0030098 dystrophin expression muscle reduced +HP:0030098 dystrophin muscle reduced staining +HP:0030099 alpha dystroglycan fiber muscle reduced +HP:0008473 diameter reduced sagittal vertebrae +HP:0008473 anterio body diameter narrow posterior vertebral +HP:0005411 candidiasis chronic intestinal +HP:0005411 candida overgrowth syndrome +HP:0100397 fifth phalanx proximal short toe +HP:0100397 5th hypoplastic phalanx proximal small toe +HP:0100397 5th phalanx proximal short toe +HP:0100397 bone innermost little short toe +HP:0100397 bone innermost pinkie short toe +HP:0100397 bone innermost pinky short toe +HP:0008804 broad femoral head +HP:0008804 bone head thigh wide +HP:0025469 anagen effluvium +HP:0100394 5th hypoplastic middle phalanx small toe +HP:0100394 bone middle pinkie short toe +HP:0100394 5th middle phalanx short toe +HP:0100394 bone little middle short toe +HP:0100394 fifth middle phalanx short toe +HP:0100394 bone middle pinky short toe +HP:0100393 fourth middle phalanx short toe +HP:0100393 4th hypoplastic middle phalanx small toe +HP:0100393 4th middle phalanx short toe +HP:0100393 4th bone middle short toe +HP:0100392 3rd middle phalanx short toe +HP:0100392 3rd hypoplastic middle phalanx small toe +HP:0100392 middle phalanx short third toe +HP:0100391 bone outermost pinkie short toe +HP:0100391 5th distal phalanx short toe +HP:0100391 bone little outermost short toe +HP:0100391 distal fifth phalanx short toe +HP:0100391 5th distal hypoplastic phalanx small toe +HP:0100391 bone outermost pinky short toe +HP:0100020 capsular cataract posterior +HP:0025463 abnormality activity redox +HP:0008475 hypoplastic sacral vertebrae +HP:0025461 abnormal cell morphology +HP:0025460 brain by high inositol mrs myo +HP:0025460 brain by high mrs myoinositol +HP:0025466 2 beta microglobulinuria +HP:0025465 abnormal beta circulating globulin level +HP:0025464 increased oxygen production reactive species +HP:0025464 oxidative stress +HP:0025464 increased production ros +HP:0100022 disorder movement +HP:0100022 abnormality movement +HP:0100022 movement unusual +HP:0008477 cervical ossified poorly vertebrae +HP:0007360 absent cerebellum underdeveloped +HP:0007360 atrophy cerebellum hypoplasia +HP:0007360 absent cerebellum small +HP:0007360 aplasia cerebellum hypoplasia +HP:0007360 atrophy cerebellar hypoplasia +HP:0007360 affecting atrophy cerebellum degeneration +HP:0008476 endplates irregular sclerotic +HP:0008476 dense end irregular plate +HP:0007361 abnormality pons +HP:0002738 decreased frontal sinuses volume +HP:0002738 frontal sinuses underdeveloped +HP:0002738 decreased frontal pneumatization sinus +HP:0002738 frontal hypotrophic sinus +HP:0002738 frontal hypoplastic sinuses +HP:0002738 frontal sinuses small +HP:0008479 small vertebrae +HP:0008479 bodies small vertebral +HP:0008479 bodies hypoplastic vertebral +HP:0007362 absent brainstem underdeveloped +HP:0007362 absent brainstem small +HP:0007362 aplasia brainstem hypoplasia +HP:0008478 changes like scheuermann vertebral +HP:0002730 chronic lymphadenopathy noninfectious +HP:0002731 apoptosis decreased lymphocyte +HP:0002731 apoptosis defective lymphocyte +HP:0002732 lymph nodes small +HP:0002732 hypoplasia lymph node +HP:0002733 abnormality lymph nodes +HP:0002733 abnormal histology lymph node +HP:0011772 abnormal gland shape thyroid +HP:0011772 abnormality morphology thyroid +HP:0002737 base bone increased skull thickness +HP:0002737 base increased skull thickness +HP:0002737 base skull thick +HP:0008760 behavior violent +HP:0011356 abnormality regional skin +HP:0003168 dibasicaminoaciduria +HP:0011030 abnormality cation element homeostasis transition +HP:0007453 flexural lichenification +HP:0007817 gaze horizontal palsy supranuclear +HP:0007814 irregularity rpe +HP:0007814 epithelial mottling pigment retinal +HP:0007814 epithelium irregularity pigment retinal +HP:0007814 epithelium focal hypopigmentation pigment retinal +HP:0007814 mottling rpe +HP:0007814 pepper pigmentation retinal salt +HP:0007814 pepper retinopathy salt +HP:0007815 abnormal arterioles distribution retinal venules +HP:0007812 corneal dendritic epithelial ulcer +HP:0007812 corneal herpetiform ulceration +HP:0007812 corneal herpetiform ulcers +HP:0007813 nongranulomatous uveitis +HP:0007811 horizontal nystagmus pendular +HP:0007811 horizontal nystagmus +HP:0007818 central heterochromia +HP:0007818 heterochromia iris ring +HP:0007819 cataract presenile +HP:0007819 cataracts presenile +HP:0008255 diabetes mellitus neonatal transient +HP:0010940 aplasia bone hypoplasia nasal +HP:0032047 cortical dysplasia focal i type +HP:0011204 activity continuous eeg slow with +HP:0004444 spherocytosis +HP:0000907 anterior cupping ribs +HP:0000907 anteriorly ribs splayed +HP:0000907 anterior cupping rib +HP:0009713 hemangioblastoma spinal +HP:0009711 capillary hemangioma retinal +HP:0009711 hemangioblastoma retinal +HP:0009710 chilblains +HP:0009710 chilblain lesions +HP:0009717 cortical tubers +HP:0009716 nodules subependymal +HP:0009715 cystadenoma epididymis papillary +HP:0009714 abnormality epididymis +HP:0009719 hypomelanotic macules +HP:0009719 hypomelanotic macule +HP:0009718 astrocytoma cell giant subependymal +HP:0012579 change disease minimal +HP:0012579 change glomerulonephritis minimal +HP:0012579 change minimal nephropathy +HP:0012578 glomerulonephritis membranous +HP:0012578 membranous nephropathy +HP:0012577 basement glomerular membrane thin +HP:0012576 c3 nephropathy +HP:0012576 c3 deposition glomerular +HP:0012576 c3 deposition renal +HP:0012575 abnormality nephron +HP:0012574 hypercellularity mesangial +HP:0012574 mesangial proliferation +HP:0012573 global proximal tubulopathy +HP:0012572 duplex ureter +HP:0012571 fissus ureter +HP:0012571 duplicated partially ureter +HP:0012570 sarcoma synovial +HP:0012570 malignant synovioma +HP:0031145 appearance hepatic on sky sonography starry +HP:0031144 coarsened echotexture hepatic +HP:0009438 absent bone finger middle +HP:0009438 3rd aplasia finger middle phalanx +HP:0009438 3rd absent finger middle phalanx +HP:0009438 absent finger middle phalanx +HP:0009439 bone finger middle short +HP:0009439 3rd finger middle phalanx short +HP:0009439 3rd finger hypoplastic middle phalanx small +HP:0009436 bone finger middle shaped triangular +HP:0009436 3rd finger middle phalanx shaped triangular +HP:0009437 3rd aplasia finger hypoplasia middle phalanx +HP:0009437 absent bone finger middle underdeveloped +HP:0009437 absent bone finger middle small +HP:0009434 bone density finger increase middle uneven +HP:0009434 3rd finger middle patchy phalanx sclerosis +HP:0009435 3rd finger middle phalanx symphalangism +HP:0009435 bone finger fused middle +HP:0009432 3rd curved finger middle phalanx +HP:0009432 bone curved finger middle +HP:0004006 epiphyses radial round +HP:0009430 3rd broad finger middle phalanx +HP:0009430 bone broad finger middle +HP:0009430 broad finger middle phalanx wide +HP:0009431 bone bullet finger middle shaped +HP:0009431 3rd bullet finger middle phalanx shaped +HP:0200040 cyst epidermal +HP:0200040 cyst sebaceous +HP:0200040 cysts epidermoid +HP:0200040 cyst skin +HP:0200040 cyst epidermal inclusion +HP:0200040 cyst infundibular +HP:0200040 cyst keratin +HP:0200040 cyst epidermoid +HP:0001149 corneal dystrophy lattice +HP:0001149 biber dimmer dystrophy haab +HP:0001410 decreased function liver +HP:0001410 dysfunction liver mild +HP:0001410 dysfunction liver +HP:0001147 exudate retinal +HP:0001147 exudates retinal +HP:0001144 cyst eye socket +HP:0001144 cyst orbital +HP:0001144 cysts orbital +HP:0001413 cirrhosis micronodular +HP:0001142 lenticonus +HP:0001140 dermoids epibulbar +HP:0001140 dermoid limbal +HP:0001140 benign eye tumor +HP:0001140 dermoid epibulbar +HP:0001141 acuity reduced severely visual +HP:0001141 acuity reduction severe visual +HP:0001141 impairment marked vision +HP:0001141 impaired severely vision +HP:0001141 loss severe vision +HP:0001141 loss severe visual +HP:0001141 impairment severe visual +HP:0008390 fingernails recurrent shedding toenails +HP:0008390 fingernails loss recurrent toenails +HP:0008391 fingernail formation poor +HP:0008391 dystrophic fingernails +HP:0008392 discolored nail skin thickened under +HP:0008392 hyperkeratosis subungual +HP:0008393 curved fourth nail toe +HP:0008394 onychodystrophy +HP:0008394 malformed nails +HP:0100958 foramen narrow obturatorium +HP:0008396 chronic infection monilial nail +HP:0008398 fifth fingernail hypoplastic +HP:0008398 fifth fingernail underdeveloped +HP:0008398 finger fingernail pinkie underdeveloped +HP:0008398 finger fingernail pinky underdeveloped +HP:0008398 finger fingernail little underdeveloped +HP:0008399 around nails skin thick +HP:0008399 circumungual hyperkeratosis +HP:0100957 abnormality medulla renal +HP:0100951 enlarged fossa interpeduncularis +HP:0100951 cistern enlarged interpeduncular +HP:0100951 basal cistern enlarged +HP:0100950 3 chain coa deficiency dehydrogenase hydroxyacyl long +HP:0100950 3 activity coa decreased dehydrogenase hydroxyacyl +HP:0100950 3 a chain coenzyme deficiency dehydrogenase hydroxyacyl l medium short +HP:0100950 3 a chain coenzyme deficiency dehydrogenase hydroxyacyl short +HP:0100953 enlarged fissure longitudinal +HP:0100953 enlarged fissure great longitudinal +HP:0100953 cerebral enlarged fissure longitudinal +HP:0100953 enlarged fissure interhemispheric +HP:0100952 enlarged lateral sulcus +HP:0100952 enlarged fissure sylvian +HP:0100952 cistern enlarged sylvian +HP:0100952 enlarged fissure lateral +HP:0009380 aplasia fingers +HP:0009380 absent fingers +HP:0009381 fingers stubby +HP:0009381 finger short +HP:0009381 fingers hypoplastic +HP:0009381 fingers hypoplastic small +HP:0009381 digits hypoplastic +HP:0009381 finger stubby +HP:0009382 absent bone end finger part pinky +HP:0009382 5th absent epiphyses finger +HP:0009382 absent bone end finger little part +HP:0009382 absent bone end finger part pinkie +HP:0009383 5th bracket epiphyses finger +HP:0009383 bone bracket end finger little part shaped +HP:0009383 bone bracket end finger part pinky shaped +HP:0009383 bone bracket end finger part pinkie shaped +HP:0009384 bones cone end finger little part shaped +HP:0009384 bones cone end finger part pinky shaped +HP:0009384 bones cone end finger part pinkie shaped +HP:0009384 5th cone epiphyses finger shaped +HP:0009385 bones end enlarged finger little part +HP:0009385 bones end enlarged finger part pinky +HP:0009385 bones end enlarged finger part pinkie +HP:0009385 5th enlarged epiphyses finger +HP:0009386 bones end finger fragmentation part pinky +HP:0009386 bones end finger fragmentation little part +HP:0009386 5th epiphyses finger fragmentation +HP:0009386 bones end finger fragmentation part pinkie +HP:0009387 5th epiphyses finger irregular +HP:0009387 bones end finger irregular part pinkie +HP:0009387 bones end finger irregular part pinky +HP:0009387 bones end finger irregular little part +HP:0009388 bone density end finger increased part pinkie +HP:0009388 5th epiphyses finger ivory +HP:0009388 bone density end finger increased little part +HP:0009388 bone density end finger increased part pinky +HP:0009389 5th finger pseudoepiphyses +HP:0004445 elliptocytosis +HP:0004445 ovalocytosis +HP:0004445 elliptocyte +HP:0004445 elliptocytosis hereditary +HP:0040303 decreased iron serum +HP:0040303 iron low serum +HP:0040302 pseudohypertriglyceridemia +HP:0040302 hyperglycerolemia +HP:0040301 glycerol increased urinary +HP:0040300 abnormal acid circulating fatty free level +HP:0040307 dysfunction male sexual +HP:0040306 decreased libido male +HP:0040305 increased libido male +HP:0040304 duplication sella turcica +HP:0040304 duplicate sella turcica +HP:0040304 duplicated sella turcica +HP:0040309 increased mandible size +HP:0040309 jaw large +HP:0040308 anorgasmia male +HP:0010559 clivus vertical +HP:0010558 abnormality clivus +HP:0010553 crisis oculogyric +HP:0010551 paraparesis paraplegia +HP:0010550 leg paralysis +HP:0010550 paraplegia +HP:0010557 fingers overlapping +HP:0010554 cutaneous fingers syndactyly +HP:0010554 cutaneous finger syndactyly +HP:0010554 fingers skin webbed +HP:0010554 cutaneous hands syndactyly +HP:0010554 fingers webbed +HP:0010085 absent big bone innermost toe underdeveloped +HP:0010085 aplasia hallux hypoplasia phalanx proximal +HP:0010085 absent big bone innermost small toe +HP:0005248 bile duct paucity +HP:0005248 atresia biliary duct intrahepatic +HP:0005248 atresia biliary intrahepatic +HP:0010087 big bone bullet innermost shaped toe +HP:0010087 bullet hallux phalanx proximal shaped +HP:0010086 broad hallux phalanx proximal +HP:0010086 big broad phalanx proximal toe +HP:0010086 big bone broad innermost toe +HP:0000549 abnormal conjugate eye movement +HP:0000549 disconjugate eye movements +HP:0000548 cone dystrophy retinal rod +HP:0000548 cone dystrophy rod +HP:0010083 big bone outermost shaped toe triangular +HP:0010083 distal hallux phalanx shaped triangular +HP:0010082 big bone fused outermost toe +HP:0010082 affecting distal hallux phalanx symphalangism +HP:0000545 nearsightedness +HP:0000545 close sighted +HP:0000545 near sighted +HP:0000545 near sightedness +HP:0000545 myopia +HP:0000544 chronic external ophthalmoplegia progressive +HP:0000544 eye motility muscles or paralysis progressive weakness +HP:0000544 eye movement muscles or paralysis progressive weakness +HP:0000544 externa ophthalmoplegia +HP:0000544 external ophthalmoplegia +HP:0005715 bone end flattened knee part +HP:0005715 epiphyses flattened knee +HP:0000546 degeneration retinal +HP:0000546 degeneration retina +HP:0000541 detached retina +HP:0000541 detachment retinal +HP:0000540 hypermetropia +HP:0000540 farsightedness +HP:0000540 hyperopia +HP:0000540 long sightedness +HP:0000543 discs optic pale +HP:0000543 disk optic pale +HP:0000543 disc optic pale +HP:0000543 disc pallor +HP:0000543 disc optic pallor +HP:0000543 disk optic pallor +HP:0000542 adduction impaired ocular +HP:0003013 bulging epiphyses +HP:0003013 bone bulging end part +HP:0003010 bleeding prolonged time +HP:0003010 bleeding increased time +HP:0003011 abnormality muscular +HP:0003011 abnormality musculature +HP:0004048 joint narrow spaces wrist +HP:0004049 angles carpal decreased 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focal frontal spike waves with +HP:0012011 eeg focal occipital spike waves with +HP:0012012 eeg focal parietal spike waves with +HP:0012013 eeg focal spike temporal waves with +HP:0012014 central eeg focal spikes with +HP:0012015 eeg focal frontal spikes with +HP:0012016 eeg focal occipital spikes with +HP:0012017 eeg focal parietal spikes with +HP:0012018 eeg focal spikes temporal with +HP:0012019 dislocated lenses +HP:0012019 dislocated lens +HP:0012019 lens luxation +HP:0011068 odontoma +HP:0011068 odontomas +HP:0011069 hyperdontia +HP:0011069 more normal teeth than +HP:0011069 increased number teeth +HP:0011069 count increased tooth +HP:0011069 supernumerary tooth +HP:0011069 supernumary teeth +HP:0011069 supplemental teeth +HP:0011069 dentition supernumary +HP:0011069 supernumerary teeth +HP:0011069 dentition supplemental +HP:0011069 extra teeth +HP:0011064 abnormal incisors number +HP:0011064 abnormal front number teeth +HP:0011065 front pointed tooth +HP:0011065 front peg shaped 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complete duplication finger index outermost partial +HP:0009948 2nd distal duplication finger phalanx +HP:0009949 2nd complete duplication finger middle partial phalanx +HP:0009949 2nd duplication finger middle phalanx +HP:0009949 bones complete duplication finger index middle partial +HP:0009946 2nd affecting finger polydactyly +HP:0009946 extra finger index +HP:0009947 2nd duplication finger phalanx proximal +HP:0009947 bones duplication finger index proximal +HP:0009947 2nd complete duplication finger partial phalanx proximal +HP:0009944 bones duplication partial thumb +HP:0009944 bifid thumb +HP:0009944 duplication partial phalanx thumb +HP:0009944 duplication partial phalanges thumb +HP:0009944 notching phalanges thumb +HP:0009945 bones duplication finger index +HP:0009945 2nd complete duplication finger partial phalanges +HP:0009945 2nd duplication finger phalanx +HP:0009942 duplication phalanx thumb +HP:0009942 duplicated thumbs +HP:0009942 complete duplication partial phalanges thumb +HP:0009942 duplicated thumb +HP:0009943 digitalization thumb +HP:0009943 complete duplication phalanges thumb +HP:0009943 digitalization thumbs +HP:0009943 bones complete duplication thumb +HP:0009943 complete duplication phalanx thumb +HP:0009940 jaw lower uneven +HP:0009940 jaw lower tilted +HP:0009940 canted jaw lower +HP:0009940 asymmetry jaw lower +HP:0009940 deviation mandible +HP:0009940 asymmetry mandible +HP:0009940 mandible tilted +HP:0009940 deviation jaw lower +HP:0009940 crooked jaw lower +HP:0009940 canted mandible +HP:0009940 mandible uneven +HP:0009940 jaw lower one shifted side to +HP:0009941 mouth tilted +HP:0009941 asymmetry cavity oral +HP:0009941 mouth uneven +HP:0009941 canted mouth +HP:0009941 crooked mouth +HP:0009941 asymmetry mouth +HP:0002055 below curved dimple linear lip lower +HP:0002054 heavy ridge supraorbital +HP:0002054 heavy ridges supraorbital +HP:0002054 brow face heavy +HP:0002057 area between eyebrows prominent +HP:0002057 convex glabella 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at birth breech presentation +HP:0001623 breech presentation +HP:0001622 delivery preterm +HP:0001622 birth premature +HP:0001622 delivery premature +HP:0001622 affected delivery infants premature +HP:0001622 gestation shortened time +HP:0001621 voice weak +HP:0001621 soft voice +HP:0001621 hypophonia +HP:0001620 high pitched voice +HP:0030667 neovascularization peripheral retinal +HP:0030666 neovascularization retinal +HP:0030666 neovascularisation retinal +HP:0030665 holmes tremor +HP:0030665 rubral tremor +HP:0030664 beevor s sign +HP:0030663 empty optically vitreous +HP:0030662 cells inflammatory vitreous +HP:0001629 defect septal ventricular +HP:0001629 defects septal ventricular +HP:0001629 defect ventriculoseptal +HP:0001629 chambers heart hole lower separating two wall +HP:0030660 cord furcate insertion +HP:0007481 hyperpigmented nevi +HP:0007480 autonomic decreased due dysfunction sweating to +HP:0007483 depigmentation hyperpigmentation skin +HP:0007482 generalized lesions 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impaired phosphatidylserine platelet to v +HP:0200016 acrokeratosis +HP:0200016 acral keratosis +HP:0006756 diffuse leiomyomatosis +HP:0025037 gliosis hypothalamic +HP:0006755 cutaneous leiomyosarcoma +HP:0006753 cancer gastric increased +HP:0006753 neoplasm stomach +HP:0006753 neoplasia stomach +HP:0006753 stomach tumor +HP:0006751 neurofibromas paraspinal +HP:0000605 gaze palsy supranuclear +HP:0000605 gaze paralysis supranuclear +HP:0006758 genitourinary malignant tract tumor +HP:0030986 biliary epithelial hyperplasia +HP:0030987 cholangitis suppurative +HP:0030984 abnormal acid bile concentration serum +HP:0030985 bile concentration decreased serum +HP:0030983 ovarian thecoma +HP:0030980 brain by glutamine level mrs reduced +HP:0030981 abnormal albumin csf ratio serum +HP:0030988 cholangitis granulomatous +HP:0030989 cholangitis lymphoid +HP:0008691 bladder diverticulum solitary +HP:0031059 ability bathe impaired oneself to +HP:0031058 activities daily impairment living +HP:0031053 aortic arch coarctation transverse +HP:0031052 elevated endothelial factor growth level vascular +HP:0031051 sclerosis tarsal +HP:0031050 immunoglobulin paraproteinemia whole +HP:0031057 fissure skin +HP:0031057 cracked skin +HP:0031056 aneurysm fusiform intracranial +HP:0031056 aneurysm cerebral fusiform +HP:0031055 abnormal aortic arch branching left pattern +HP:0031054 aorta coarctation long segment +HP:0008695 nephrosis transient +HP:0008695 nephrotic syndrome transient +HP:0008697 fallopian tube underdeveloped +HP:0008697 fallopian rudimentary tubes +HP:0008697 fallopian hypoplasia tube +HP:0040158 distance intermamillary short +HP:0040159 abnormality incisors spacing +HP:0040159 abnormality front spacing teeth +HP:0040159 abnormal incisors spaced +HP:0040156 acid carboxylic elevated urinary +HP:0040157 abnormal distance intermamillary +HP:0040154 acne inversa +HP:0040154 fistulans pyoderma significa +HP:0040154 hidradenitis suppurativa +HP:0040154 disease s verneuil +HP:0040154 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bones cross forearm fusion +HP:0008915 apparent childhood obesity truncal +HP:0008915 childhood obesity onset truncal +HP:0003808 abnormal muscle tone +HP:0004673 decreased expression facial +HP:0003952 elbow foci metaphyses sclerotic +HP:0003952 linear lucent metaphyses mixed pattern sclerotic vertical +HP:0003951 elbow irregular metaphyses +HP:0003951 distal humeral irregularity metaphyseal +HP:0003951 bone elbow irregular portion wide +HP:0003950 elbow flared metaphyses +HP:0003950 bone elbow flared portion wide +HP:0003957 bones cortical forearm thickening +HP:0003956 bones bowed forearm +HP:0003955 a appearance bone forearm +HP:0003954 angulated bones forearm +HP:0012524 abnormal platelet shape +HP:0001889 anemia megaloblastic +HP:0001888 low lymphocyte number +HP:0001888 blood decreased lymphocyte number +HP:0001888 lymphocytopenia +HP:0001888 lymphopenia +HP:0012525 abnormal alpha distribution granule +HP:0001883 talipes +HP:0001883 deformities foot talipes +HP:0001882 blood decreased leukocyte number +HP:0001882 leukopenia +HP:0001882 blood cell count low white +HP:0001881 abnormality leukocytes +HP:0001881 abnormal leukocyte morphology +HP:0001881 abnormal function leukocyte +HP:0001880 blood count eosinophil high +HP:0001880 eosinophilia +HP:0001886 foot osteomyelitis +HP:0001886 bone foot infection +HP:0001885 second short toe +HP:0001885 2nd short toe +HP:0001884 calcaneovalgus talipes +HP:0001884 calcaneovarus pes +HP:0000758 behaviours impaired nonverbal use +HP:0000758 behaviors impaired nonverbal use +HP:0000759 disease nervous peripheral system +HP:0000759 abnormal morphology nervous peripheral system +HP:0005508 immunoglobulin m monoclonal proteinemia +HP:0005508 macroglobulinemia waldenstrom +HP:0000029 degeneration testicular +HP:0000029 atrophy testicular +HP:0011123 dermatitis +HP:0011123 disease inflammatory skin +HP:0011123 abnormal infections skin tendency to +HP:0011123 inflammation skin +HP:0011123 abnormality inflammatory skin 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frontal morphology region +HP:0011218 abnormal forehead shape +HP:0011218 dysmorphic frontal region +HP:0012522 hemangioma spider +HP:0008569 ear snail +HP:0008569 constricted helix iv type +HP:0008569 ear mini +HP:0008569 cockleshell ear +HP:0008569 ear shell +HP:0008569 degree microtia second +HP:0008569 cupped ear iii severe type +HP:0008569 dysplasia ear grade ii +HP:0008568 areflexia vestibular +HP:0008568 ataxia vestibular +HP:0011213 eeg grade iii photoparoxysmal response with +HP:0011212 eeg grade ii photoparoxysmal response with +HP:0100742 blood tumor vessel +HP:0100742 neoplasm vascular +HP:0100743 neoplasm rectum +HP:0100743 rectal tumor +HP:0100744 abnormality humeroradial joint +HP:0100745 abnormality humeroulnar joint +HP:0011215 hemihypsarrhythmia +HP:0100747 macrodactyly toe +HP:0100747 foot macrodactyly +HP:0004274 bones deficient hand maturation +HP:0004274 bones deficient hand ossification +HP:0003489 acute episodes neuropathic symptoms +HP:0009214 4th absent epiphysis finger middle phalanx +HP:0009214 absent bone end finger middle part ring +HP:0009179 displaced finger pinkie +HP:0009179 displaced fifth finger laterally +HP:0009179 displaced finger pinky +HP:0009179 5th deviation finger +HP:0009179 displaced finger little +HP:0004458 auditory bulbous canal internal +HP:0004458 auditory canal dilatated internal +HP:0004458 auditory canal enlarged internal +HP:0009177 5th finger middle proximal symphalangism +HP:0009177 fifth finger proximal symphalangism +HP:0009177 5th finger middle phalanges proximal symphalangism +HP:0009177 5th finger proximal symphalangism +HP:0009177 bones finger fused innermost little middle +HP:0009177 fifth finger symphalangism +HP:0009177 bones finger fused innermost middle pinkie +HP:0009177 bones finger fused innermost middle pinky +HP:0003484 arm weak +HP:0003484 limb muscle upper weakness +HP:0003484 arm decreased strength +HP:0009175 bone density finger increase middle pinky uneven +HP:0009175 bone density finger increase little middle uneven +HP:0009175 5th finger middle patchy phalanx sclerosis +HP:0009175 bone density finger increase middle pinkie uneven +HP:0009174 4th abnormality epiphyses finger +HP:0009174 abnormality end finger part ring +HP:0004453 helix overfolding superior +HP:0004453 helices overfolding superior +HP:0004453 anterior bodies diameter posterior reduced vertebral +HP:0004452 abnormality ear middle ossicles +HP:0004452 malformed ossicles +HP:0004452 malformation ossicular +HP:0009171 bone end hand long part triangular +HP:0009171 epiphyses metacarpals triangular +HP:0004450 furrow preauricular skin +HP:0004450 groove preauricular skin +HP:0004450 behind ear skin sulcus +HP:0004450 furrows preauricular skin +HP:0004450 behind ear groove skin +HP:0004450 preauricular skin sulcus +HP:0003551 difficulty stairs up walking +HP:0003551 climbing difficulty stairs +HP:0004629 bodies cervical small vertebral +HP:0004629 cervical small vertebrae +HP:0003550 limb lower lymphedema predominantly +HP:0009219 4th epiphysis finger irregular middle phalanx +HP:0009219 bone end finger irregular middle part ring +HP:0100407 3rd complete distal duplication phalanx toe +HP:0100407 complete distal duplication phalanx third toe +HP:0100407 3rd bone complete duplication outermost toe +HP:0100406 bone duplication innermost little toe +HP:0100406 bone duplication innermost pinky toe +HP:0100406 bone duplication innermost pinkie toe +HP:0100406 duplication fifth phalanx proximal toe +HP:0100406 5th complete duplication partial phalanx proximal toe +HP:0100406 5th duplication phalanx proximal toe +HP:0100405 4th duplication phalanx proximal toe +HP:0100405 duplication fourth phalanx proximal toe +HP:0100405 4th bone duplication innermost toe +HP:0100405 4th complete duplication partial phalanx proximal toe +HP:0100404 3rd complete duplication partial phalanx proximal toe +HP:0100404 3rd duplication phalanx proximal toe +HP:0100404 duplication phalanx proximal third toe +HP:0100404 3rd bone duplication innermost toe +HP:0100403 bone duplication middle pinkie toe +HP:0100403 duplication fifth middle phalanx toe +HP:0100403 5th duplication middle phalanx toe +HP:0100403 bone duplication little middle toe +HP:0100403 bone duplication middle pinky toe +HP:0100403 5th complete duplication middle partial phalanx toe +HP:0100402 4th bone duplication middle toe +HP:0100402 4th duplication middle phalanx toe +HP:0100402 duplication fourth middle phalanx toe +HP:0100402 4th complete duplication middle partial phalanx toe +HP:0100401 3rd duplication middle phalanx toe +HP:0100401 3rd complete duplication middle partial phalanx toe +HP:0100401 duplication middle phalanx third toe +HP:0100401 3rd bone duplication middle toe +HP:0100400 bone duplication little outermost toe +HP:0100400 5th distal duplication phalanx toe +HP:0100400 distal duplication fifth phalanx toe +HP:0100400 bone duplication outermost pinkie toe +HP:0100400 5th complete distal duplication partial phalanx toe +HP:0100400 bone duplication fifth outermost toe +HP:0100400 bone duplication outermost pinky toe +HP:0002608 celiac disease +HP:0002608 celiac sprue +HP:0100409 bone complete duplication outermost pinkie toe +HP:0100409 bone complete duplication outermost pinky toe +HP:0100409 complete distal duplication fifth phalanx toe +HP:0100409 5th complete distal duplication phalanx toe +HP:0100409 bone complete duplication little outermost toe +HP:0100408 4th bone complete duplication outermost toe +HP:0100408 complete distal duplication fourth phalanx toe +HP:0100408 4th complete distal duplication phalanx toe +HP:0008668 46 dysgenesis gonadal xy +HP:0008668 dysgenesis gonadal male +HP:0002538 abnormality cerebral cortex +HP:0002539 dysplasia neocortical +HP:0002539 cortical dysplasia +HP:0002536 anomalies cerebral gyral +HP:0002536 abnormal cortical gyration +HP:0002536 abnormal gyration +HP:0002533 abnormal posturing +HP:0002530 axial dystonia +HP:0001641 abnormal morphology pulmonary valve +HP:0001641 anomaly pulmonary valve +HP:0001641 abnormality pulmonary valve +HP:0001640 cardiomegaly +HP:0001640 enlarged heart +HP:0001640 heart increased size +HP:0001315 absent decreased deep reflexes tendon to +HP:0001315 depressed reflexes tendon +HP:0001315 absent decreased deep reflexes tendon +HP:0001315 decreased reflexes tendon +HP:0001315 absent diminished or reflexes tendon +HP:0001315 absent deep diminished or reflexes tendon +HP:0001315 deep diminished reflexes tendon +HP:0001315 absent deep hypoactive reflexes tendon to +HP:0001315 decreased deep reflexes tendon +HP:0001315 impaired reflexes tendon +HP:0001315 absent decreased deep or reflexes tendon +HP:0001315 reduced reflexes tendon +HP:0001315 absent deep reduced reflexes tendon +HP:0001315 absent deep or reflexes tendon weak +HP:0003228 hypernatremia +HP:0003228 blood high levels sodium +HP:0025409 abnormal physiology spleen +HP:0025408 abnormal morphology spleen +HP:0003221 breakage by chromosomal diepoxybutane induced +HP:0003221 agents breakage by chromosomal crosslinking induced +HP:0003221 breakage by c chromosomal induced mitomycin +HP:0003220 abnormality chromosome stability +HP:0003223 decreased methylcobalamin +HP:0003223 deficiency methylcobalamin +HP:0025406 asthenia +HP:0025401 eyes staring +HP:0025401 gaze staring +HP:0003224 cellular increased light sensitivity to uv +HP:0025403 posture stooped +HP:0003226 accumulation autofluorescent intracellular lipopigment material rectilinear storage +HP:0003226 profiles rectilinear ultrastructurally +HP:0001311 abnormalities neurophysiologic +HP:0001311 abnormality neurophysiologic +HP:0001311 abnormal electrophysiology nervous system +HP:0001646 abnormality aortic valve +HP:0001646 abnormal aortic morphology valve +HP:0007379 genitourinary neoplasm tract +HP:0007379 genitourinary neoplasia tract +HP:0007379 genitourinary tract tumors +HP:0001231 abnormal fingernails +HP:0001231 abnormality fingernails +HP:0002280 cisterna enlarged magna +HP:0002280 cisterna large magna +HP:0002280 cisterna magna mega +HP:0002281 gray heterotopias matter +HP:0002282 heterotopias +HP:0002282 heterotopia +HP:0002283 atrophy brain generalized +HP:0002283 atrophy brain global +HP:0002283 atrophy brain diffuse +HP:0002283 brain degeneration generalized +HP:0002283 atrophy cerebral generalized +HP:0002286 color fair hair +HP:0002286 colored hair light +HP:0002286 blond hair +HP:0002286 color flaxen hair +HP:0002286 color hair towhead +HP:0002286 colored hair straw +HP:0002286 fair hair +HP:0002286 color hair sandy +HP:0002287 alopecia progressive +HP:0002289 alopecia universal +HP:0002289 alopecia complete +HP:0002289 alopecia universalis +HP:0001233 2nd 3rd fingers webbed +HP:0001233 2nd 3rd fingers syndactyly +HP:0001233 2 3 finger syndactyly +HP:0005532 anemia dyserythropoietic macrocytic +HP:0006442 bone calf end innermost underdeveloped upper +HP:0006442 bone calf end innermost small upper +HP:0006442 fibula hypoplasia proximal +HP:0007378 gi tract tumor +HP:0007378 gastrointestinal tract tumor +HP:0007378 gastrointestinal neoplasia tract +HP:0007378 gastrointestinal neoplasm tract +HP:0005531 acute biphenotypic leukemia +HP:0005531 acute biphenotypic leukaemia +HP:0005531 leukemia lymphoid myeloid +HP:0012591 abnormal concentration electrolyte urinary +HP:0200034 papules +HP:0200034 papules skin +HP:0200034 papule +HP:0000010 infection tract urinary +HP:0000010 infections recurrent tract urinary +HP:0000010 infection urinary +HP:0000010 frequent infections tract urinary +HP:0000010 infections tract urinary +HP:0030607 macular measured oct reduced thickness +HP:0000017 nycturia +HP:0000017 nocturia +HP:0006441 aplasia condyle humeral lateral +HP:0005535 exercise hemolysis induced +HP:0000014 abnormality bladder +HP:0025158 hyperautofluorescent lesion retinal +HP:0007427 pigmentation reticulate skin +HP:0007427 pattern pigmentation reticular +HP:0007427 pigmentation reticulated skin +HP:0000019 hesitancy urinary +HP:0000019 difficulty flow with +HP:0100551 neoplasm tracheal +HP:0100551 neoplasm trachea +HP:0008715 dysgenesis testicular +HP:0100553 leg one overgrowth +HP:0100553 hemihypertrophy limb lower +HP:0007095 frontoparietal polymicrogyria +HP:0008717 degeneration kidney on one side +HP:0008717 kidney unilateral wasting +HP:0008717 atrophy renal unilateral +HP:0007429 au cafe few lait spots +HP:0008711 benign hyperplasia prostatic +HP:0008711 benign hypertrophy prostatic +HP:0009883 bifid phalanges terminal +HP:0009883 bone hand notched outermost +HP:0009883 bone duplication hand outermost +HP:0009883 distal duplication hand phalanx +HP:0009883 complete distal duplication hand partial phalanges +HP:0009882 distal hypoplastic phalanges +HP:0009882 brachytelophalangy +HP:0009882 hypoplastic phalanges terminal +HP:0009882 hypoplasic phalanges terminal +HP:0009882 distal hypoplasia phalangeal +HP:0009882 distal hand hypoplasia phalanges +HP:0009882 bone finger outermost short +HP:0009882 distal finger phalanx short +HP:0009882 distal phalanges short +HP:0009882 hand hypoplasia phalangeal terminal +HP:0009882 distal hypoplasia phalanges +HP:0009881 absent bone hand outermost +HP:0009881 aplasia bone hand outermost +HP:0009881 absent distal hand phalanges +HP:0009881 aplasia distal hand phalanges +HP:0009880 all broad distal fingers phalanges +HP:0009880 bones broad hand outermost +HP:0009887 abnormality color hair +HP:0009887 abnormality hair pigmentation +HP:0009886 nodosa trichorrhexis +HP:0030707 agenesis pulmonary unilateral +HP:0030707 agenesis lung unilateral +HP:0009884 bone finger outermost tapered +HP:0009884 distal phalanges tapered +HP:0009884 distal finger phalanges tapered +HP:0009884 distal hand phalanges tapered +HP:0009889 hirsutism localized +HP:0009889 abnormal growth hair localized +HP:0009888 abnormality hair secondary sexual +HP:0007078 action amplitude decreased potentials sensory +HP:0007881 central corneal dystrophy +HP:0009775 amniotic constriction ring +HP:0009775 pseudoainhum +HP:0009775 amniotic bands +HP:0009775 amniotic band constriction +HP:0009774 hand phalanges shaped triangular +HP:0009774 delta like phalanx +HP:0009774 bones hand shaped triangular +HP:0009777 aplasia thumb +HP:0009777 absent thumbs +HP:0009777 absent thumb +HP:0009776 aphalangy +HP:0009776 absent fingers or toes +HP:0009776 adactyly +HP:0009771 bones breakdown fingers small +HP:0009771 defects hand osteolytic phalanges +HP:0009771 acro osteolysis +HP:0009771 acroosteolysis +HP:0009770 bones curved hand +HP:0009770 curved hand phalanges +HP:0009773 affecting hand phalanges symphalangism +HP:0009773 hand involving phalanges synostosis +HP:0009773 bones finger fused hand +HP:0009772 hand patchy phalanges sclerosis +HP:0009772 finger patchy phalanx sclerosis +HP:0009772 bone density finger increase uneven +HP:0009772 phalangeal sclerosis +HP:0009779 3rd 4th toes webbed +HP:0009779 3 4 syndactyly toe +HP:0009779 3rd 4th syndactyly toes +HP:0009778 brachydactyly thumb +HP:0009778 hypoplasia thumb +HP:0009778 short thumbs +HP:0009778 hypoplastic thumb +HP:0009778 small thumbs +HP:0009778 short thumb +HP:0009778 hypoplastic thumbs +HP:0009778 hypoplastic small thumb +HP:0007880 corneal dystrophy marginal +HP:0007838 drooping eyelid progressive upper +HP:0007838 progressive ptosis +HP:0012590 abnormal output urine +HP:0007348 hypoplasia pyramidal tract +HP:0008829 delayed femoral head ossification +HP:0008829 bone delayed head maturation thigh +HP:0012595 mild proteinuria +HP:0012594 microalbuminuria +HP:0012594 albumin high levels urine +HP:0012597 heavy proteinuria +HP:0012597 blood high levels protein severly +HP:0012596 moderate proteinuria +HP:0008822 hypoplastic ischiopubic rami +HP:0007831 external nonprogressive ophthalmoplegia restrictive +HP:0007832 eyeball outer part pigmentation white +HP:0007832 pigmentation sclera +HP:0007341 cerebral diffuse matter swelling white +HP:0007346 calcifications matter subcortical white +HP:0007835 between eyelids opening s shaped +HP:0007835 fissures palpebral s shaped +HP:0007835 eyes s shaped +HP:0007836 corneal dystrophy mosaic +HP:0009410 3rd absent epiphyses finger +HP:0009410 absent bone end finger middle part +HP:0009411 3rd bracket epiphyses finger +HP:0009411 bone bracket end finger middle part shaped +HP:0009412 bone cone end finger middle part shaped +HP:0009412 3rd cone epiphyses finger shaped +HP:0009413 bone end enlarged finger middle part +HP:0009413 3rd enlarged epiphyses finger +HP:0009414 bone end finger fragmentation middle part +HP:0009414 3rd epiphyses finger fragmentation +HP:0009415 bone end finger irregular middle part +HP:0009415 3rd epiphyses finger irregular +HP:0009416 3rd epiphyses finger ivory +HP:0009416 bone density end finger increased middle part +HP:0009417 3rd finger pseudoepiphyses +HP:0009417 finger middle phalanges pseudoepiphyses +HP:0009418 bone end finger middle part small +HP:0009418 3rd epiphyses finger small +HP:0009419 3rd epiphyses finger stippling +HP:0009419 bone calcifications end finger middle part speckled +HP:0001161 finger supernumerary +HP:0001161 hand polydactyly +HP:0001161 finger polydactyly +HP:0001161 extra finger +HP:0001162 hands polydactyly postaxial +HP:0001162 extra finger little +HP:0001162 5th affecting finger polydactyly +HP:0001162 hand polydactyly postaxial +HP:0001162 polydactyly postaxial +HP:0001162 fingers polydactyly postaxial +HP:0001162 extra finger pinkie +HP:0001162 extra finger pinky +HP:0001163 anomaly bones metacarpal +HP:0001163 abnormality bones metacarpal +HP:0001163 abnormality bone hand long +HP:0001166 fingers long slender +HP:0001166 arachnodactyly +HP:0001166 fingers spider +HP:0001167 abnormality finger +HP:0001167 abnormalities fingers +HP:0001169 palm wide +HP:0001169 broad hand +HP:0001169 broad palm +HP:0001169 broad hands +HP:0020050 anti antibody csf gm positivity +HP:0020050 anti antibody colony factor granulocyte macrophage positivity stimulating +HP:0020054 abnormal erythrocyte physiology +HP:0001257 muscular spasticity +HP:0001257 muscle spasticity +HP:0001257 contraction involuntary muscle or spasm stiffness +HP:0001257 spasticity +HP:0020059 blood cell count increased red +HP:0020058 abnormal blood cell count red +HP:0004488 macrocephaly +HP:0004488 head large +HP:0004488 large skull +HP:0004488 big birth cranium present since +HP:0004488 at birth macrocephaly +HP:0004488 age circumference for gestational head large +HP:0004488 at birth head large present +HP:0004488 big birth head present since +HP:0004488 at birth cranium large present +HP:0004488 cranium large +HP:0004488 at big birth cranium present +HP:0004488 at birth large present skull +HP:0004488 big birth present since skull +HP:0004488 birth head large present since +HP:0004488 birth cranium large present since +HP:0004488 birth large present since skull +HP:0004488 at big birth present skull +HP:0004488 at big birth head present +HP:0001254 lethargy +HP:0100217 5th epiphysis fragmentation middle phalanx toe +HP:0100217 bone end fragmentation middle part pinkie toe +HP:0100217 bone end fragmentation little middle part toe +HP:0100217 bone end fragmentation middle part pinky toe +HP:0030511 difficulty moving objects seeing +HP:0030511 bradyopsia +HP:0030510 combined epithelium hamartoma pigment retina retinal +HP:0030513 adjusting dark difficulty from light to +HP:0030512 adjusting changes difficulty luminance to +HP:0030515 loss moderate visual +HP:0030515 impairment moderate visual +HP:0030515 acuity moderate reduction visual +HP:0030515 loss moderate vision +HP:0030515 acuity moderately reduced visual +HP:0030514 adjusting dark difficulty from light to +HP:0030517 hemianopia heteronymous +HP:0030517 hemianopsia heteronymous +HP:0030516 hemianopsia homonymous +HP:0030516 hemianopia homonymous +HP:0030519 congruous hemianopia heteronymous +HP:0030518 congruous hemianopsia +HP:0030518 congruous hemianopia homonymous +HP:0005089 abnormal metaphyseal trabeculation +HP:0004461 earlobe sinuses +HP:0004461 posterior wedging +HP:0005086 knee osteoarthritis +HP:0005085 extension flexion knee limited +HP:0005084 anterior dislocation head radial +HP:0007437 cutaneous leiomyomas multiple +HP:0001252 hypotonia muscle +HP:0001252 hypotonia muscular +HP:0001252 low muscle or tone weak +HP:0012601 chloride decreased urinary +HP:0012601 hypochloriduria +HP:0012601 chloride levels low urine +HP:0007430 edema generalized +HP:0007430 edema generalized tissue +HP:0010539 calvarium thin +HP:0010539 bone cranial thin +HP:0010539 bone skull thin +HP:0010538 sella small turcica +HP:0010538 fossa pituitary small +HP:0010538 fossa hypophseal hypoplasia +HP:0010538 hypoplasia sella turcica +HP:0010538 fossa hypophyseal small +HP:0010538 fossa hypoplasia pituitary +HP:0010535 breathing pauses sleeping while +HP:0010535 apnoea sleep +HP:0010535 apnea sleep +HP:0010534 amnesia global transient +HP:0010537 broad cranial sutures +HP:0010537 cranial large suture +HP:0010537 cranial sutures widened +HP:0010537 cranial open sutures +HP:0010537 cranial open persistent sutures +HP:0010537 cranial sutures wide +HP:0010536 apnea central sleep +HP:0010536 apnoea central sleep +HP:0010531 myoclonus spinal +HP:0010530 myoclonus palatal +HP:0010533 nutans spasmus +HP:0010532 paroxysmal vertigo +HP:0000567 choroidoretinal coloboma +HP:0000567 choroidal coloboma +HP:0000567 choroid coloboma +HP:0000567 a at back birth causes defect eye hole innermost layer that +HP:0000567 chorioretinal coloboma +HP:0005262 abnormality synovia +HP:0000565 esotropia +HP:0000565 cross eyed inward turning +HP:0000564 duct tear unopened +HP:0000564 ducts imperforate nasolacrimal +HP:0000564 atresia duct nasolacrimal +HP:0000564 atresia duct lacrimal +HP:0005267 because cervical delivery fragility insufficiency membrane or premature +HP:0005266 intestinal polyp +HP:0005266 intestinal polyps +HP:0005265 abnormality jejunum +HP:0005264 abnormality gallbladder +HP:0005264 anomaly gallbladder +HP:0005268 miscarriage +HP:0005268 abortion spontaneous +HP:0000568 nanophthalmos +HP:0000568 abnormally eye globe small +HP:0000568 decreased eyeball size +HP:0000568 abnormally eyeball small +HP:0000568 decreased eye globe size +HP:0000568 microphthalmos +HP:0000568 microphthalmia +HP:0004026 broad metaphysis radial +HP:0004026 metaphysis radial wide +HP:0004027 abnormality diaphysis radial +HP:0004024 medially metaphysis radial sloping +HP:0004025 metaphysis radial spurred +HP:0004022 longitudinal metaphysis radial sclerotic striations with +HP:0004023 metaphysis radial sloping +HP:0004020 irregular metaphysis ossification radial +HP:0004021 defects lytic metaphysis radial +HP:0003038 fibular hypoplasia +HP:0003038 fibula hypoplastic +HP:0003038 fibulae short +HP:0003038 bone calf short +HP:0003038 fibula short +HP:0001250 seizures +HP:0001250 epilepsy +HP:0001250 seizure +HP:0004028 diaphysis radial spurs +HP:0004029 defects diaphysis lytic radial +HP:0007387 glands sweat underdeveloped +HP:0007387 glands hypoplastic sweat +HP:0007384 aberrant maturation melanosome +HP:0007385 defect scalp +HP:0007385 defect scalp solitary +HP:0007385 absence focal scalp tissue +HP:0007385 aplasia congenita cutis scalp +HP:0001251 ataxia +HP:0001251 ataxia cerebellar +HP:0007383 absence localized skin +HP:0031934 abnormal aorta descending morphology +HP:0031935 aorta ascending hypoplasia +HP:0031936 delayed walking +HP:0031936 ability delayed to walk +HP:0031937 tachylogia +HP:0031937 tachylalia +HP:0031930 neurocytic rosette +HP:0031930 pineocytomatous rosette +HP:0031931 flutter ocular +HP:0031932 aorto left tunnel ventricular +HP:0031932 aorta left to tunnel ventricle +HP:0031933 aorta right to tunnel ventricle +HP:0031933 aorto right tunnel ventricular +HP:0007381 erythroderma exfoliative +HP:0031938 abnormal conus medullaris morphology +HP:0031938 abnormal conus morphology terminalis +HP:0031939 arteriovenous conus malformation terminalis +HP:0009968 3rd bifid finger phalanx terminal +HP:0009968 bone duplication finger middle outermost partial +HP:0009968 bone finger middle notched outermost +HP:0009968 3rd distal duplication finger partial phalanx +HP:0011662 atresia tricuspid +HP:0011662 atresia tricuspid valve +HP:0011911 abnormality joint metacarpophalangeal +HP:0011911 abnormality knuckle +HP:0011660 hemitruncus +HP:0011660 anomalous aorta artery ascending from one origin pulmonary +HP:0011661 anomalous aorta artery ascending from left origin pulmonary +HP:0011914 hypertrichosis thoracic +HP:0011667 bilateral bridging cava superior vein vena with +HP:0011664 cardiomyopathy compaction left non ventricular +HP:0011664 cardiomyopathy left noncompaction ventricular +HP:0011917 pinkie short toe +HP:0011917 pinky short toe +HP:0011917 fifth short toe +HP:0011917 little short toe +HP:0011917 5th short toe +HP:0011918 4th clinodactyly toe +HP:0011918 4th curvature toe +HP:0011919 empyema pleural +HP:0011919 pyothorax +HP:0011668 bilateral bridging cava no superior vein vena with +HP:0011669 atrium cava directly draining left superior to vena +HP:0011019 abnormality chromosome condensation +HP:0011006 abnormality cervical musculature +HP:0011006 issue muscle neck +HP:0011006 abnormality musculature neck +HP:0011004 abnormal artery morphology systemic +HP:0011004 abnormalities arterial +HP:0011004 abnormal arterial morphology systemic +HP:0011004 abnormality artery systemic +HP:0011004 abnormality arterial systemic tree +HP:0011005 cirrhosis mixed +HP:0011002 albers disease schonberg +HP:0011002 osteopetrosis +HP:0011002 bone disease marble +HP:0011002 bones denser fracture harder prone +HP:0011003 near severe sightedness +HP:0011003 high myopia +HP:0011003 near severely sighted +HP:0011003 close severely sighted +HP:0011003 myopia severe +HP:0011003 00 6 diopters myopia severe +HP:0011000 absent optic tract underdeveloped +HP:0011000 aplasia hypoplasia optic tract +HP:0011000 absent optic small tract +HP:0011001 bone density increased +HP:0011001 bones osteosclerosis +HP:0011001 osteosclerosis +HP:0011001 bone density increased mineral +HP:0009960 3rd complete duplication finger phalanges +HP:0009960 bones complete duplication finger middle +HP:0009961 bones duplication finger middle partial +HP:0009961 3rd duplication finger partial phalanges +HP:0009962 3rd distal duplication finger phalanx +HP:0009962 bone complete duplication finger middle outermost partial +HP:0009962 3rd complete distal duplication finger partial phalanx +HP:0009963 3rd duplication finger middle phalanx +HP:0009963 3rd complete duplication finger middle partial phalanx +HP:0009963 bone duplication finger middle +HP:0009964 bone duplication finger middle proximal +HP:0009964 3rd complete duplication finger partial phalanx proximal +HP:0009964 3rd duplication finger phalanx proximal +HP:0009965 3rd complete distal duplication finger phalanx +HP:0009965 3rd bone complete duplication finger outermost +HP:0009966 3rd complete duplication finger middle phalanx +HP:0009966 bone complete duplication finger middle +HP:0009967 3rd bone complete duplication finger innermost +HP:0009967 3rd complete duplication finger phalanx proximal +HP:0002077 aura migraine with +HP:0009969 3rd bone duplication finger middle partial +HP:0009969 3rd duplication finger middle partial phalanx +HP:0002075 dysdiadochokinesis +HP:0002075 dysdiadochokinesia +HP:0002074 lipopigments neuronal +HP:0002074 autofluorescent increased lipopigment neuronal +HP:0002073 ataxia cerebellar progressive +HP:0002073 ataxia progressive +HP:0002072 choreiform movements +HP:0002072 chorea +HP:0002072 choreatic disease +HP:0002072 choreic movements +HP:0002071 abnormality extrapyramidal function motor +HP:0002071 extrapyramidal signs +HP:0002071 dysfunction extrapyramidal +HP:0002071 extrapyramidal symptoms +HP:0002071 extrapyramidal signs tract +HP:0002071 extrapyramidal syndrome +HP:0002070 ataxia limb +HP:0002070 appendicular ataxia +HP:0410247 animal anti antibody dander ige increased level +HP:0410247 anti antibody dander ige increased level +HP:0410246 igd increased levels +HP:0410246 elevated igd +HP:0410246 igd increased level +HP:0410246 elevated igd serum +HP:0410246 igd increased serum +HP:0410246 hypergammaglobulinemia igd +HP:0410245 deficiency igd +HP:0410245 circulating decreased igd total +HP:0410245 decreased igd +HP:0410244 abnormal igd level +HP:0410243 abnormal igm level +HP:0410242 abnormal igg level +HP:0410241 abnormal ige level +HP:0410240 abnormal iga level +HP:0012296 distal finger phalanx slender +HP:0012296 bone finger outermost slender +HP:0012297 bone finger innermost slender +HP:0012297 finger phalanx proximal slender +HP:0012294 abnormality bone occipital +HP:0012295 finger middle phalanx slender +HP:0012295 bone finger middle slender +HP:0012292 fusion gums +HP:0012292 fusion gingiva +HP:0012292 fusion gums partial +HP:0012292 gums synechia +HP:0012292 gingival synechia +HP:0012292 fused gums lower together upper +HP:0012293 abnormal genital pigmentation +HP:0410249 alpha anti antibody gal ige increased level +HP:0410249 1 3 alpha anti antibody galactose ige increased level +HP:0410248 anti antibody dust house ige increased level +HP:0007131 acute demyelinating polyneuropathy +HP:0100213 absent bone end little middle part toe +HP:0100213 absent bone end middle part pinky toe +HP:0100213 absent bone end middle part pinkie toe +HP:0100213 5th absent epiphysis middle phalanx toe +HP:0100210 bone end outermost part pinkie small toe +HP:0100210 5th distal epiphysis phalanx small toe +HP:0100210 bone end little outermost part small toe +HP:0100210 bone end outermost part pinky small toe +HP:0100211 bone calcifications end little outermost part speckled toe +HP:0100211 bone calcifications end outermost part pinky speckled toe +HP:0100211 5th distal epiphysis phalanx stippling toe +HP:0100211 bone calcifications end outermost part pinkie speckled toe +HP:0007643 detachment peripheral retinal traction +HP:0007643 detachment peripheral retinal tractional +HP:0007643 at detachment periphery retina retinal tractional +HP:0007642 blindness complete night stationary +HP:0007642 birth blindness night since +HP:0007642 blindness night +HP:0007642 blindness night stationary +HP:0007642 hemeralopia static +HP:0007641 blindness color +HP:0007641 dyschromatopsia +HP:0100215 5th cone epiphysis middle phalanx shaped toe +HP:0100215 bone cone end little middle part shaped toe +HP:0100215 bone cone end middle part pinkie shaped toe +HP:0100215 bone cone end middle part pinky shaped toe +HP:0008619 bilateral deafness nerve +HP:0008619 bilateral deafness sensorineural +HP:0008619 bilateral hearing loss sensorineural +HP:0008619 bilateral hearing impairment sensorineural +HP:0100218 bone end irregular little middle part toe +HP:0100218 bone end irregular middle part pinky toe +HP:0100218 5th epiphysis irregular middle phalanx toe +HP:0100218 bone end irregular middle part pinkie toe +HP:0100219 bone density end increased little middle part toe +HP:0100219 5th epiphysis ivory middle phalanx toe +HP:0100219 bone density end increased middle part pinky toe +HP:0100219 bone density end increased middle part pinkie toe +HP:0007649 epithelium hypertrophy pigment retinal +HP:0007648 lenticular opacities punctate +HP:0007648 cataract punctate +HP:0100721 lymphadenopathy mediastinal +HP:0030681 abnormal morphology myocardial trabeculae +HP:0030680 cardiovascular malformations +HP:0030680 abnormality cardiovascular morphology system +HP:0030680 defect heart +HP:0030683 vaginitis +HP:0030683 vulvovaginitis +HP:0030682 left noncompaction ventricular +HP:0030685 adiponectin decreased level +HP:0030684 abnormal adiponectin level +HP:0030687 abnormal glucagon level +HP:0030686 adiponectin increased level +HP:0030689 decreased glucagon level +HP:0030688 glucagon increased level +HP:0005868 enchondromatosis metaphyseal +HP:0025348 abnormality corneal limbus +HP:0011397 abnormality column cord dorsal spinal +HP:0025346 2 beta circulating elevated level microglobulin +HP:0025346 2 beta circulating increased level microglobulin +HP:0025611 epicanthus superciliaris +HP:0025344 bile destruction duct interlobular +HP:0025613 emotional focal seizure +HP:0025342 artery central occlusion retinal +HP:0025343 anticoagulant lupus +HP:0025340 deep episcleral hyperemia +HP:0025340 deep episcleral hyperaemia +HP:0025341 corneal keratic precipitates +HP:0001045 blotchy color loss skin +HP:0001045 vitiligo +HP:0011647 aortic coarctation postductal +HP:0011647 aorta coarctation postductal +HP:0011640 artery coronary origin single +HP:0011393 aplasia nerve vestibular +HP:0011393 aplasia cranial nerve viii +HP:0011393 absent cranial eighth nerve +HP:0011393 absent cranial nerve viii +HP:0011393 aplasia cranial eighth nerve +HP:0011393 absent nerve vestribular +HP:0012438 abnormal gallbladder physiology +HP:0012439 abnormal biliary physiology tract +HP:0011390 abnormality ear inner morphological +HP:0012432 chronic exhaustion extreme +HP:0012432 chronic fatigue +HP:0012433 abnormal behavior social +HP:0012433 abnormal interactions social +HP:0012433 abnormal behaviour social +HP:0012430 cerebral hypoplasia matter white +HP:0012430 cerebral matter paucity white +HP:0003059 abnormality joints radioulnar +HP:0012436 artery coronary non occlusive stenosis +HP:0012436 artery coronary disease nonocclusive +HP:0012436 artery coronary nonocclusive stenosis +HP:0012436 artery atherosclerosis coronary nonocclusive +HP:0012436 artery coronary disease non occlusive +HP:0012437 abnormal gallbladder morphology +HP:0012437 abnormal gallbladder shape +HP:0012434 delayed development social +HP:0012435 foreskin shortening ventral +HP:0004000 cone distal epiphysis radial shaped +HP:0004000 chevron distal epiphysis radial shaped +HP:0004001 deficient epiphyses medially radial +HP:0005855 at birth fractures multiple numerous present +HP:0005855 bone fractures +HP:0005855 are at birth fractures multiple numerous present that +HP:0005855 at birth fractures multiple present +HP:0005855 fractures multiple prenatal +HP:0004003 epiphyses flattened medially radial +HP:0031488 arteriovenous lip malformation +HP:0031488 arteries atypical between connection veins +HP:0031489 lip malformation venous +HP:0031484 cold hemolysis induced +HP:0011648 after arteriosus at birth ductus patent term +HP:0031486 lip malformation vascular +HP:0031487 capillary lip malformation +HP:0031480 abnormal leaflet mitral morphology valve +HP:0031481 abnormal mitral physiology valve +HP:0031482 abnormal contraction left regional ventricular +HP:0004557 anterior fusion vertebral +HP:0006514 calcifications intraalveolar nodular +HP:0006515 interstitial pneumonitis +HP:0430023 abnormality antrum maxillary +HP:0430023 abnormality jaw sinus upper +HP:0430023 abnormality maxillary sinus +HP:0430023 abnormality antrum highmore +HP:0006517 alveolar proteinosis +HP:0430025 both face sides weakness +HP:0430025 bilateral facial palsy +HP:0430025 bilateral facial muscle weakness +HP:0430025 bilateral facial paralysis +HP:0430025 bilateral facial muscle paralysis +HP:0430025 both face paralysis sides +HP:0011398 central hypotonia +HP:0430026 dysmorphic midface +HP:0430026 abnormal midface morphology +HP:0430026 abnormality midface shape +HP:0430029 bone hyperplasia intermaxillary +HP:0430029 large premaxilla +HP:0430029 hyperplasia premaxilla +HP:0430029 bone hyperplasia palate primary +HP:0430029 excess premaxillary +HP:0430029 increased premaxilla size +HP:0430029 bone large palate primary +HP:0430029 bone excess palate primary +HP:0430029 bone increased palate primary size +HP:0430028 hyperplasia maxilla +HP:0430028 big maxilla +HP:0430028 increased maxilla projection +HP:0430028 increased jaw size upper +HP:0430028 hyperplasia maxillary +HP:0430028 jaw prominent upper +HP:0430028 maxillary prognathia +HP:0430028 hypertrophy maxilla +HP:0430028 jaw prognathia upper +HP:0430028 maxilla prominent +HP:0430028 large maxilla +HP:0430028 excess maxillary +HP:0430028 bone excess jaw upper +HP:0430028 hypertrophy jaw upper +HP:0430028 maxillary prominence +HP:0430028 increased maxilla size +HP:0430028 increased jaw projection upper +HP:0430028 jaw large upper +HP:0430028 hyperplasia jaw upper +HP:0430028 big jaw upper +HP:0430028 macrognathia maxillary +HP:0430028 excess jaw upper +HP:0500022 abnormal dehydroepiandrosterone level serum +HP:0500022 abnormal androstenolone level serum +HP:0500022 abnormal dhea serum +HP:0003051 a bone enlarged long portion wide +HP:0003051 enlarged metaphyses +HP:0006518 pulmonary stenosis venous +HP:0006518 disease pulmonary venoocclusive +HP:0006518 occlusion pulmonary venous +HP:0006519 alveolar carcinoma cell +HP:0009484 deviation fingers hand or +HP:0009484 displaced fingers hand or +HP:0010238 epiphyses fingers triangular +HP:0010238 epiphyses hand phalanges triangular +HP:0010238 bones end finger part triangular +HP:0010238 delta epiphyses fingers shaped +HP:0000918 bone exostoes shoulder +HP:0000918 exostoses scapulae +HP:0000918 exostoses scapular +HP:0000919 abnormal costochondral juctions +HP:0000919 abnormality costochondral junction +HP:0000916 broad collarbone +HP:0000916 broad clavicles +HP:0000917 carinatum pectus superior +HP:0000917 carinatum pectus superiorly +HP:0000914 broad chest +HP:0000914 chest shield +HP:0000915 excavatum inferior pectus sternum +HP:0000915 excavatum inferiorly pectus +HP:0000912 displacement scapula upward +HP:0000912 blade high shoulder +HP:0000912 high scapula +HP:0000912 anomaly sprengel +HP:0000912 deformity sprengel +HP:0000913 fusion posterior rib +HP:0000910 costochondral cupped junctions wide +HP:0000911 flat fossa glenoid +HP:0031156 decreased glycoprotein ib platelet +HP:0031157 caroticocavernous fistula +HP:0031157 carotid cavernous fistula +HP:0031154 appearance beaded vitreous +HP:0031155 arden electrooculogram increased ratio +HP:0031155 arden eog increased ratio +HP:0200037 blister +HP:0200037 skin vesicle +HP:0200036 nodule skin +HP:0200036 abnormal growth on or skin tissue under +HP:0200035 plaque skin +HP:0031151 traction vitreomacular +HP:0006770 carcinoma cell clear renal +HP:0006770 carcinoma cell nonpapillary renal +HP:0006771 cancer duodenal +HP:0006771 adenocarcinoma duodenal +HP:0006772 angiomyolipoma renal +HP:0006772 angiomyolipoma +HP:0006772 angiomyolipoma kidney +HP:0006773 angiolipomas cutaneous +HP:0006774 adenocarcinoma ovarian papillary +HP:0006775 disease kahler s +HP:0006775 plasmocytoma +HP:0006775 multiple myeloma +HP:0031158 atrophic scar widened +HP:0031159 descemet membrane thinning +HP:0500087 atrophy peripapillary +HP:0500086 crescent gray nerve optic +HP:0500086 crescent gray pigmentary temporal +HP:0005850 calcaneovalgus talipes +HP:0500081 pseudophakia +HP:0005160 anomalous connection pulmonary total venous +HP:0005160 anomalous drainage pulmonary total venous +HP:0005160 anomalous pulmonary return total venous +HP:0500089 meningioma nerve optic sheath +HP:0500088 depigmentation foveal +HP:0012489 arachnoid cyst suprasellar +HP:0030079 cancer cervix +HP:0031039 arrest early maturation spermatogenesis +HP:0031038 arrest maturation spermatogenesis +HP:0031038 arrest maturation meiotic spermatogenesis +HP:0031035 chronic infection +HP:0031034 abnormal acid binding factor growth insulin labile level like protein subunit +HP:0031037 3 factor insulin level like reduced +HP:0031037 insl3 level plasma reduced +HP:0031036 binding decreased gh plasma protein +HP:0031036 binding growth hormone level protein reduced +HP:0031031 abnormal binding level protein retinol +HP:0031030 ca125 increased plasma +HP:0031030 125 antigen carcinoma elevated level +HP:0031033 acidification defect renal +HP:0031033 acidification impaired urinary +HP:0031032 binding decreased level protein retinol +HP:0001464 aplasia hypoplasia involving musculature shoulder +HP:0001464 absent muscles shoulder underdeveloped +HP:0001464 absent muscles shoulder small +HP:0040170 abnormality growth hair +HP:0030072 neoplasm paranasal sinuses +HP:0030072 neoplasm paranasal sinus +HP:0030072 paranasal sinuses tumor +HP:0040172 abnormality muscle occipitofrontalis +HP:0040173 abnormality lingual muscle +HP:0040173 abnormality muscle tongue +HP:0040174 abnormality extrinsic lingual muscle +HP:0040174 abnormality extrinsic muscle tongue +HP:0040175 acetylhydrolase activating deficiency factor platelet +HP:0040176 abnormal level phospholipids +HP:0040177 abnormal activating factor level platelet +HP:0040177 abnormal level paf +HP:0040178 increased level paf +HP:0040178 activating factor increased level platelet +HP:0040179 decreased level paf +HP:0040179 activating decreased factor level platelet +HP:0030070 central neuroectodermal primitive tumor +HP:0030071 medulloepithelioma +HP:0010889 ck disease kienb s +HP:0010889 disease kienboeck s +HP:0010889 lunatomalacia +HP:0010889 kienboeck morbus +HP:0005692 beyond expected joints motion move range +HP:0005692 hyperflexibility joint +HP:0030076 carcinoma lobular situ +HP:0005696 a polydactyly postaxial type +HP:0005694 bones fusion innermost partial row wrist +HP:0005694 bones carpal fusion partial proximal row +HP:0012486 cord inflammation spinal +HP:0012486 myelitis +HP:0030074 chemodectoma +HP:0030074 chemodectomas +HP:0004691 2nd 3rd toes webbed +HP:0004691 2 3 syndactyly toe +HP:0004691 cutaneous second syndactyly third toes +HP:0004691 2 3 cutaneous syndactyly toe +HP:0004691 2 3 feet syndactyly +HP:0004691 2 3 soft syndactyly tissue toe +HP:0004691 complete cutaneous second syndactyly third toes +HP:0004691 2nd 3rd complete or partial syndactyly toes +HP:0004691 second syndactyly third toes +HP:0004691 2 3 syndactyly toes +HP:0030075 carcinoma ductal situ +HP:0007359 focal onset seizures +HP:0007359 focal seizures +HP:0007359 focal onset seizure +HP:0007359 partial seizures +HP:0007359 focal seizure +HP:0004690 achilles tendon thickened +HP:0100379 4th absent distal phalanx toe +HP:0100379 4th aplasia distal phalanx toe +HP:0100379 4th absent bone outermost toe +HP:0004619 kyphoscoliosis lumbar +HP:0003938 elbow involving synostosis +HP:0003938 bone elbow fusion involving +HP:0007703 abnormality rpe +HP:0007703 anomaly pigmentary retinal +HP:0007703 abnormality epithelium pigment retinal +HP:0007703 abnormality pigmentation retinal +HP:0007703 abnormal pigmentation retinal +HP:0003935 broad diaphysis humeral +HP:0003935 arm bone long shaft upper wide +HP:0003935 diaphysis humeral wide +HP:0003935 arm bone broad long shaft upper +HP:0003934 diaphysis humeral slender +HP:0003934 arm bone long shaft slender upper +HP:0004617 arch butterfly vertebral +HP:0004616 arch cleft vertebral +HP:0004616 arches cleft vertebral +HP:0004611 anterior concavity thoracic vertebrae +HP:0004611 anteriorly concave vertebrae +HP:0012377 hemianopia +HP:0012377 hemianopsia +HP:0003933 diaphysis humeral sclerosis +HP:0003933 arm bone density increased long shaft upper +HP:0003932 diaphysis foci humeral sclerotic +HP:0005745 contractures foot +HP:0007258 demyelination matter severe white +HP:0001204 distal symphalangism +HP:0001204 bones fused hand outermost +HP:0001204 distal phalanges synostosis +HP:0001204 affecting distal hand phalanges symphalangism +HP:0001204 symphalangism terminal +HP:0001204 distal hands symphalangism +HP:0012370 cheekbone prominence +HP:0012370 hypertrophy zygomatic +HP:0012370 bone hyperplasia zygomatic +HP:0012370 bone excess zygomatic +HP:0012370 bone prominence zygomatic +HP:0012370 hypertrophy malar +HP:0012370 cheekbone hyperplasia +HP:0012370 cheekbone pronounced +HP:0012370 cheekbone excess +HP:0005747 easily first joints metacarpophalangeal subluxated +HP:0005528 bone hypoplasia marrow +HP:0005528 bone hypoplastic marrow +HP:0005528 bone hypocellularity marrow +HP:0005528 bone failure marrow +HP:0012373 abnormal eye physiology +HP:0005524 disease hemolytic macrocytic +HP:0005525 crises hemolytic spontaneous +HP:0005526 leukemia lymphoid +HP:0012372 abnormal eye morphology +HP:0012372 abnormality globe +HP:0012372 abnormally eye shaped +HP:0005520 chronic coagulopathy consumption +HP:0005520 coagulation compensated disseminated intravascular +HP:0005520 chronic coagulation disseminated intravascular +HP:0005521 coagulation disseminated intravascular +HP:0005522 anemia pyridoxine responsive sideroblastic +HP:0005523 disorders lymphoproliferative +HP:0005523 disorder lymphoproliferative +HP:0008583 helices superior underfolded +HP:0011279 abnormality bicarbonate concentration urine +HP:0011278 intrapulmonary sequestration +HP:0008587 hearing impairment mild neurosensory +HP:0008587 hearing loss mild neurosensory +HP:0008586 cochlea underdeveloped +HP:0008586 cochlea hypoplastic +HP:0008586 cochlea hypoplasia +HP:0008589 helices underdeveloped +HP:0008589 helices hypoplastic +HP:0008588 auditory exterior like meatus opening slit +HP:0011277 abnormality physiology system urinary +HP:0011276 malformation skin vascular +HP:0011276 abnormalities restricted skin to vascular +HP:0011276 abnormality skin vascular +HP:0011271 hypertrophic tragus +HP:0011271 hyperplastic tragus +HP:0011271 prominent tragus +HP:0011271 large tragus +HP:0011271 enlarged tragus +HP:0007708 absent eyelashes inner +HP:0011273 blood cells red size unequal +HP:0011273 anisocytosis +HP:0011272 hypotrophic tragus +HP:0011272 hypoplastic tragus +HP:0011272 tragus underdeveloped +HP:0011272 small tragus +HP:0009191 bone density end hands increased long part +HP:0009191 epiphyses ivory metacarpals +HP:0009190 bone end hand irregular long part +HP:0009190 epiphyses irregular metacarpals +HP:0009193 metacarpal pseudoepiphyses +HP:0009193 accessory centers metacarpal ossification proximal +HP:0009193 metacarpals pseudoepiphyses +HP:0009192 absent bone finger innermost pinky small +HP:0009192 5th aplasia finger hypoplasia phalanx proximal +HP:0009192 absent bone finger innermost pinky underdeveloped +HP:0009192 absent bone finger innermost little small +HP:0009192 absent bone finger innermost pinkie small +HP:0009195 bone calcifications end hand long part speckled +HP:0009195 epiphyses metacarpals stippling +HP:0009195 epiphyseal metacarpals stippling +HP:0009194 bone end hand long part small +HP:0009194 epiphyses metacarpals small +HP:0009197 bone bracket end finger innermost part pinkie shaped +HP:0009197 5th bracket epiphysis finger phalanx proximal +HP:0009197 bone bracket end finger innermost part pinky shaped +HP:0009197 bone bracket end finger innermost little part shaped +HP:0009196 absent epiphyses metacarpal +HP:0009196 absent bone end hand long part +HP:0009196 absent center metacarpal ossification +HP:0009199 5th epiphysis finger irregular phalanx proximal +HP:0009199 bone end finger innermost irregular little part +HP:0009199 bone end finger innermost irregular part pinky +HP:0009199 bone end finger innermost irregular part pinkie +HP:0012379 abnormal activity coenzyme enzyme +HP:0100374 absent bone middle pinky toe underdeveloped +HP:0100374 absent bone little middle toe underdeveloped +HP:0100374 5th absent bone middle small toe +HP:0100374 absent bone middle pinkie toe underdeveloped +HP:0100374 5th aplasia hypoplasia middle phalanx toe +HP:0012599 abnormal concentration phosphate urine +HP:0100377 5th aplasia hypoplasia phalanx proximal toe +HP:0100377 5th absent bone innermost toe underdeveloped +HP:0100377 absent bone innermost little small toe +HP:0100377 absent bone innermost pinky small toe +HP:0100377 absent bone innermost pinkie small toe +HP:0006607 costochondral ossification precocious +HP:0005256 aplasia major muscle pectoralis unilateral +HP:0005256 absence major muscle pectoralis unilateral +HP:0011542 atrioventricular criss cross inferior superior valves ventricles with +HP:0010094 big bone complete duplication innermost toe +HP:0010094 complete duplication hallux phalanx proximal +HP:0002510 spastic tetraplegia +HP:0002510 quadriplegia spastic +HP:0002511 alzheimer disease familial form late onset +HP:0002511 alzheimer disease +HP:0002512 brain compression stem +HP:0002514 abnormal brain calcium deposits +HP:0002514 calcifications intracranial +HP:0002514 calcification cerebral +HP:0002514 calcifications intracerebral +HP:0002514 calcification intracranial +HP:0002514 brain calcification +HP:0002515 gait waddling +HP:0002515 waddling walk +HP:0002516 inside pressure rise skull +HP:0002516 hypertension intracranial +HP:0002516 increased intracranial pressure +HP:0002516 elevation intracranial pressure +HP:0010272 epiphyses fragmentation hand phalanges proximal +HP:0010272 bones end fragmentation hand innermost part +HP:0010273 bones end hand innermost irregular part +HP:0010273 epiphyses hand irregular phalanges proximal +HP:0010270 bones cone end hand innermost part shaped +HP:0010270 cone epiphyses hand phalanges proximal shaped +HP:0010271 enlarged epiphyses hand phalanges proximal +HP:0010271 bones end enlarged hand innermost part +HP:0010276 bones end hand innermost part small +HP:0010276 epiphyses hand phalanges proximal small +HP:0010277 bones calcifications end hand innermost part speckled +HP:0010277 epiphyses hand phalanges proximal stippling +HP:0010274 epiphyses hand ivory phalanges proximal +HP:0010274 bone bones density end hand increased innermost part +HP:0010275 hand phalanges proximal pseudoepiphyses +HP:0011499 mydriasis +HP:0011499 dilated pupil +HP:0005348 inspiratory stridor +HP:0005349 epiglottis hypoplastic +HP:0005349 epiglottis hypoplasia +HP:0011491 cells corneal endothelial number reduced +HP:0011490 abnormality descemet membrane s +HP:0011490 abnormal descemet membrane morphology +HP:0011493 central cornea opacification +HP:0011492 abnormality corneal stroma +HP:0011495 abnormality corneal epithelium +HP:0011495 abnormal corneal epithelium morphology +HP:0011494 cornea generalised opacification +HP:0011494 cornea generalized opacification +HP:0011497 iris neovascularization +HP:0011497 blood formation iris new vessel +HP:0011496 corneal neovascularization +HP:0011496 blood cornea formation new vessel +HP:0011496 limbal neovascularization +HP:0011496 corneal neovascularisation +HP:0011496 corneal vascularization +HP:0003203 negative nitroblue reduction test tetrazolium +HP:0003203 nbt negative reduction test +HP:0003203 burst impaired oxidative +HP:0025426 abnormality bronchi +HP:0025426 abnormal bronchus morphology +HP:0025425 laryngospasm +HP:0025424 abnormal larynx physiology +HP:0003207 arterial calcification +HP:0003206 activity decreased nadph oxidase +HP:0003205 curvilinear profiles ultrastructurally +HP:0003205 analysis curvilinear intracellular on profiles ultrastructural +HP:0003205 cells curvilinear profiles ultrastructurally +HP:0003205 accumulation autofluorescent curvilinear intracellular lipopigment material storage +HP:0025420 alveolar diffuse haemorrhage +HP:0025420 alveolar diffuse hemorrhage +HP:0003209 activity carboxylase decreased pyruvate +HP:0003208 fingerprint profiles ultrastructurally +HP:0003208 accumulation autofluorescent fingerprint intracellular lipopigment material storage +HP:0003208 cells fingerprint profiles ultrastructurally +HP:0025429 abnormal cry +HP:0025428 bronchospasm +HP:0000130 abnormalities uterine +HP:0000130 abnormality uterus +HP:0000130 malformations uterine +HP:0010102 absent big bone outermost toe +HP:0010102 aplasia distal hallux phalanx +HP:0010103 distal hallux phalanx short +HP:0010103 big bone outermost small toe +HP:0010103 big distal phalanx small toe +HP:0010103 distal hallux phalanx small +HP:0010103 distal hallux hypoplastic phalanx small +HP:0011564 hammock mitral valve +HP:0011564 arcade mitral valve +HP:0005340 bladder hyperactive spastic +HP:0005341 autonomic bladder dysfunction +HP:0005988 muscular torticollis +HP:0005988 torticollis +HP:0005989 excess neck over skin +HP:0005989 folds neck redundant skin +HP:0005989 excess neck skin +HP:0005989 neck over redundant skin +HP:0005989 neck redundant skin +HP:0005989 nuchal redundant skin +HP:0005986 limitation motion neck +HP:0005986 movement neck restricted +HP:0005986 limited mobility neck +HP:0005987 goiter multinodular +HP:0005984 alpha elevated fetoprotein maternal serum +HP:0005982 deficiency hydroxylase phenylalanine +HP:0005982 activity hydroxylase phenylalanine reduced +HP:0005345 abnormal cava morphology vena +HP:0005345 abnormality cava vena +HP:0010880 increased nuchal translucency +HP:0005347 cartilaginous trachea +HP:0007350 hyperreflexia limbs upper +HP:0005956 anteroposteriorly larynx shortened +HP:0025289 lymph neck nodes swollen +HP:0025289 cervical lymphadenopathy +HP:0005990 hypoplastic thyroid +HP:0005990 hypoplasia thyroid +HP:0006187 fusion joints midphalangeal +HP:0010882 atresia pulmonary valve +HP:0006185 enlarged interphalangeal joints proximal +HP:0006185 enlarged hinge innermost joint +HP:0006184 creases decreased palmar +HP:0006184 creases palmar shallow +HP:0006184 line palm shallow +HP:0006184 creases formed palmar poorly +HP:0006184 creases hypoplastic palmar +HP:0006180 bones crowded wrist +HP:0006180 bones carpal crowded +HP:0006189 folds interdigital prominent +HP:0410188 blood cells decreased g6pd level red +HP:0410188 6 blood cells decreased dehydrogenase glucose level phosphate red +HP:0410189 6 blood cells dehydrogenase glucose increased level phosphate red +HP:0410189 blood cells g6pd increased level red +HP:0410180 6 abnormal blood dehydrogenase dried glucose level phosphate spot +HP:0410180 6 abnormal dbs dehydrogenase glucose level phosphate +HP:0410180 abnormal blood dried g6pd level spot +HP:0410181 6 dbs dehydrogenase glucose increased level phosphate +HP:0410181 6 blood dehydrogenase dried glucose increased level phosphate spot +HP:0410181 blood dried g6pd increased level spot +HP:0410182 6 dbs decreased dehydrogenase glucose level phosphate +HP:0410182 blood decreased dried g6pd level spot +HP:0410182 6 blood decreased dehydrogenase dried glucose level phosphate spot +HP:0410183 abnormal g6pd leukocytes level +HP:0410183 6 abnormal dehydrogenase glucose leukocytes level phosphate +HP:0410184 abnormal blood cells g6pd level red +HP:0410184 6 abnormal blood cells dehydrogenase glucose level phosphate red +HP:0008639 gonadal hypoplasia +HP:0008639 gonad underdeveloped +HP:0410186 g6pd increased level tissue +HP:0410186 6 dehydrogenase glucose increased level phosphate tissue +HP:0410187 6 decreased dehydrogenase glucose level phosphate tissue +HP:0410187 decreased g6pd level tissue +HP:0007588 hyperpigmentation reticulate +HP:0007588 hyperpigmentation reticular +HP:0007589 aplasia congenita cutis limbs on or trunk +HP:0012603 abnormal concentration sodium urine +HP:0012602 chloride renal wasting +HP:0012605 hypernatriuria +HP:0012605 increased sodium urinary +HP:0012604 levels low sodium urine +HP:0012604 hyponatriuria +HP:0012607 abnormal concentration magnesium urine +HP:0012606 renal sodium wasting +HP:0012609 levels low magnesium urine +HP:0012609 hypomagnesiuria +HP:0012609 decreased magnesium urine +HP:0012608 hypermagnesiuria +HP:0007583 eruptiva macularis perstans telangiectasia +HP:0007585 blistering fragility non scarring skin with +HP:0007586 marbled producing skin telangiectases +HP:0007587 freckles numerous pigmented +HP:0011567 atrial defect septal sinus venosus +HP:0006989 callosum corpus dysgenesis +HP:0006989 callosum corpus dysplastic +HP:0006989 callosum corpus dysplasia +HP:0006988 alobar holoprosencephaly +HP:0006986 arms movement uncontrollable upper +HP:0006986 limb spasticity upper +HP:0006984 all distal loss modalities sensory +HP:0006983 progressive quadriparesis slowly spastic +HP:0006980 leukoencephalopathy progressive +HP:0030339 circulating decreased gonadotropin level +HP:0008643 nephroblastomatosis +HP:0009759 neck pterygia +HP:0009759 neck pterygium +HP:0007112 atrophy cortical temporal +HP:0009757 intercrural pterygium +HP:0009756 popliteal pterygium +HP:0009755 ankyloblepharon +HP:0009755 adhesion eyelids +HP:0009755 eyelid synechiae +HP:0009755 adnatum ankyloblepharon filiforme +HP:0009755 eyelids stuck together +HP:0009754 fibrous syngnathia +HP:0009754 alveolar fusion ridges +HP:0009754 alveolar synechiae +HP:0009752 base cleft skull +HP:0009752 base cleft cranial +HP:0009751 aplasia major muscle pectoralis +HP:0009751 absent major muscle pectoralis +HP:0004446 cell red stomatocytosis +HP:0004446 stomatocytosis +HP:0004446 erythrocyte stomatocytes +HP:0011549 absent atrioventricular connection heart left sided univentricular with +HP:0030148 heart murmur +HP:0030148 heart murmurs +HP:0030148 cardiac murmur +HP:0030148 cardiac murmurs +HP:0030149 cardiovascular shock +HP:0030149 cardiogenic shock +HP:0012668 situational syncope +HP:0012668 syncope vasovagal +HP:0012668 reflex syncope +HP:0012668 neurocardiogenic syncope +HP:0030142 abnormal bowel sounds +HP:0030143 bowel hyperactive sounds +HP:0030143 bowel increased sounds +HP:0030140 cavity hemorrhage oral +HP:0030140 bleeding from mouth +HP:0030140 bleeding cavity oral +HP:0030141 abnormality at back hairline head +HP:0030141 abnormality hairline posterior +HP:0030146 abnormal liver morphology parenchyma +HP:0030147 titubation truncal +HP:0030144 bowel hypoactive sounds +HP:0030144 bowel decreased sounds +HP:0030145 bowel lack sounds +HP:0100029 lingual thyroid +HP:0100028 ectopic thyroid +HP:0100028 gland heteropic thyroid +HP:0100028 abnormal location thryoid +HP:0100028 aberrant thyroid +HP:0100028 aberrant gland thyroid +HP:0100028 ectopic gland thyroid +HP:0008640 macroorchidism +HP:0008808 high iliac wings +HP:0008808 high iliac narrow wings +HP:0007369 affecting atrophy cerebrum degeneration +HP:0007364 absent cerebrum underdeveloped +HP:0007364 absent cerebrum small +HP:0007364 aplasia cerebrum hypoplasia +HP:0007365 aplasia corticospinal hypoplasia involving tracts +HP:0007366 atrophy brainstem +HP:0007366 affecting atrophy brainstem degeneration +HP:0008807 acetabulae dysplastic +HP:0008807 acetabular dysplasia +HP:0008800 hip limited movement +HP:0008801 hypoplasia lesser trochanter +HP:0008802 bone head small thigh +HP:0008802 femoral heads small +HP:0008802 femoral head hypoplastic +HP:0008802 femoral head hypoplasia +HP:0100026 arteriovenous malformation +HP:0010430 2nd absent bones toe +HP:0010430 2nd aplasia phalanges toe +HP:0009580 absent bone finger index innermost underdeveloped +HP:0009580 2nd aplasia finger hypoplasia phalanx proximal +HP:0009580 absent bone finger index innermost small +HP:0002103 abnormality pleura +HP:0200012 callosum corpus short +HP:0010197 curved middle phalanges toes +HP:0010197 curved middle phalanx toe +HP:0010197 bones curved middle toes +HP:0100732 fibrosis pancreatic +HP:0030539 0 4 acuity logmar unaided visual +HP:0030538 0 3 acuity logmar unaided visual +HP:0030533 abnormal acuity test unaided visual +HP:0030532 abnormality acuity test visual +HP:0030531 altitudinal defect field visual +HP:0030530 arc blind shaped spot +HP:0030530 arcuate scotoma +HP:0030537 0 2 acuity logmar unaided visual +HP:0030536 0 1 acuity logmar unaided visual +HP:0030535 abnormal acuity pinhole test visual +HP:0030534 abnormal acuity best corrected test visual +HP:0005060 elbow extension flexion limited +HP:0005063 bone end fragmented irregular part +HP:0005063 epiphyses fragmented irregular +HP:0010821 gelastic seizures +HP:0005067 fibular overgrowth proximal +HP:0005067 bone calf innermost overgrowth part +HP:0005066 cone epiphyses fused metaphyses shaped their within +HP:0005066 bone cone end fused long part portion shaped their wide within +HP:0005069 acromelic limb meso rhizo shortening +HP:0005068 absent process styloid ulna +HP:0030725 cyst neurenteric +HP:0006159 central hand polydactyly +HP:0006159 hand mesoaxial polydactyly +HP:0006159 finger interdigital polydactyly +HP:0010041 3rd hypoplastic metacarpal +HP:0010041 3rd metacarpal short +HP:0010041 3rd metacarpals small +HP:0010041 3rd bone hand long shortened +HP:0010041 metacarpals short third +HP:0010040 3rd absent bone hand long +HP:0010040 3rd aplasia metacarpal +HP:0010043 4th absent bone hand long +HP:0010043 4th aplasia metacarpal +HP:0010042 4th absent bone hand long underdeveloped +HP:0010042 4th aplasia hypoplasia metacarpal +HP:0010042 4th absent bone hand long small +HP:0010045 5th absent bone hand long underdeveloped +HP:0010045 5th absent bone hand long small +HP:0010045 5th aplasia hypoplasia metacarpal +HP:0010044 4th metacarpal short +HP:0010044 4th bone hand long shortened +HP:0010044 4th metacarpals short +HP:0010044 fourth hypoplastic metacarpal +HP:0010044 fourth metacarpals short +HP:0010047 fifth hypoplasia metacarpal +HP:0010047 5th metacarpal short +HP:0010047 5th bone hand long shortened +HP:0010047 fifth metacarpal short +HP:0010047 5th hypoplastic metacarpal +HP:0010047 fifth metacarpals short +HP:0010046 5th aplasia metacarpal +HP:0010046 5th absent metacarpal +HP:0010046 5th absent bone hand long +HP:0010049 metacarpals shortening +HP:0010049 metacarpals short +HP:0010049 bones metacarpal short +HP:0010049 bone hand long shortened +HP:0010049 hypoplastic metacarpal +HP:0010049 brachymetacarpalia +HP:0010049 hypoplasia metacarpal +HP:0010049 metacarpal short +HP:0010049 metacarpals shortened +HP:0010048 absent metacarpals +HP:0010048 absent bone hand long +HP:0010048 absent metacarpal +HP:0010048 aplasia bones metacarpal +HP:0010519 fetal increased movement +HP:0010519 fetal hyperkinesia +HP:0010518 cyst thyroglossal +HP:0010518 cyst duct thyroglossal +HP:0005207 gastric hypertrophy +HP:0005207 increased size stomach +HP:0005206 pancreatic pseudocyst +HP:0005201 anomalous splenoportal system venous +HP:0005200 fibrosis retroperitoneal +HP:0005203 esophageal rupture spontaneous +HP:0005203 esophageal perforation spontaneous +HP:0005203 boerhaave syndrome +HP:0005202 helicobacter infection pylori +HP:0005209 bile cysts duct intrahepatic +HP:0005208 diarrhea secretory +HP:0004661 frontalis muscle weak +HP:0004661 frontalis muscle weakness +HP:0004661 forehead muscle weakness +HP:0011139 cyst duplication gastric +HP:0011139 duplication gastric +HP:0031793 circulating elevated leptin level +HP:0031793 increased leptin serum +HP:0007411 absent glands hypoplastic sebaceous +HP:0031958 gait paraparetic spastic +HP:0031959 dystonia leg +HP:0031956 aminotransferase aspartate elevated serum +HP:0031956 elevated glutamic oxaloacetic serum transaminase +HP:0031956 aminotransferase aspartate increased +HP:0031957 gait hemiparetic spastic +HP:0031957 gait mann wernicke +HP:0031954 dystonic gait +HP:0031955 antalgic gait +HP:0031952 claudication neurogenic +HP:0031953 gait senile +HP:0031953 cautious gait +HP:0031950 interstitial pneumonia usual +HP:0031951 nocturnal seizures +HP:0031951 seizures sleep +HP:0001302 cerebral pachygyria +HP:0001302 pachygyria +HP:0008249 hyperplasia thyroid +HP:0008249 large thyroid +HP:0009222 bone end finger middle part ring small +HP:0009222 4th epiphysis finger middle phalanx small +HP:0008242 pseudohypoaldosteronism +HP:0008240 deficiency growth hormone secondary +HP:0008247 asymptomatic hyperthyroxinemia +HP:0008247 euthyroid hyperthyroxinemia +HP:0008244 adrenal hypoplasia +HP:0008244 adrenal gland hypoplasia +HP:0008245 deficient hypothyroidism tsh +HP:0008245 hypothyroidism secondary +HP:0008245 abnormal due function gland low pituitary thyroid to +HP:0008245 deficiency hormone stimulating thyroid +HP:0008245 deficiency thyrotropin +HP:0008245 hypothyroidism pituitary +HP:0004008 epiphyses radial sloping +HP:0004009 epiphyses medially radial sloping +HP:0004558 bodies cervical flattened vertebral +HP:0004558 cervical platyspondyly +HP:0011395 absent cochlea small +HP:0011395 aplasia cochlea hypoplasia +HP:0011395 absent cochlea underdeveloped +HP:0011392 abnormality nerve vestibular +HP:0011641 coronary fistula +HP:0011641 artery coronary fistula +HP:0011642 abnormality coronary sinus +HP:0011642 abnormal coronary morphology sinus +HP:0011391 abnormality ear inner morphological nerves +HP:0004552 alopecia scalp scarring +HP:0004552 alopecia cicatricial +HP:0004552 condition from hair loss on scalp scarring +HP:0003057 tetraamelia +HP:0003057 amelia tetra +HP:0004002 epiphyses flattened radial +HP:0009031 amyotrophy ankle musculature +HP:0004004 epiphyses irregular radial +HP:0004005 epiphyses large radial +HP:0004554 generalized hypertrichosis +HP:0004007 epiphyses radial sclerotic +HP:0002898 embryonal neoplasm +HP:0002898 embryonal neoplasia +HP:0002898 embryonal tumors +HP:0001691 aortic muscular stenosis subvalvular +HP:0001691 muscular stenosis subaortic +HP:0002891 leiomyosarcoma uterine +HP:0002890 carcinoma thyroid +HP:0002893 adenoma pituitary +HP:0002893 gland noncancerous pituitary tumor +HP:0002895 carcinoma papillary thyroid +HP:0002894 neoplasia pancreas +HP:0002894 neoplasm pancreas +HP:0002894 pancreatic tumor +HP:0002894 cancer pancreas +HP:0002894 cancer pancreatic +HP:0002894 cancer increased pancreatic risk +HP:0002897 adenomas parathyroid +HP:0002897 adenoma parathyroid +HP:0002896 cancer liver +HP:0002896 liver neoplasm +HP:0002896 liver tumor +HP:0011347 abduction abnormality ocular +HP:0006446 dysplastic patella +HP:0011028 abnormality blood circulation +HP:0011028 blood circulation disorder +HP:0011029 hemorrhage internal +HP:0011029 bleeding internal +HP:0011020 abnormality metabolism mucopolysaccharide +HP:0011021 abnormality circulating enzyme level +HP:0011022 abnormality acid fatty metabolism unsaturated +HP:0011023 abnormality metabolism prostaglandin +HP:0011024 abnormality gastrointestinal tract +HP:0011024 disease gastrointestinal +HP:0011024 digestive disease system +HP:0011025 abnormal cardiovascular physiology system +HP:0011025 abnormality cardiovascular physiology system +HP:0011026 absent underdeveloped vagina +HP:0011026 aplasia hypoplasia vagina +HP:0011026 absent small vagina +HP:0011027 abnormality fallopian tube +HP:0011396 abnormality cochlear nerve +HP:0002091 causing chest decreased lung or stiff volume wall +HP:0002091 disease lung restrictive +HP:0002091 defect restrictive ventilatory +HP:0002090 pneumonia +HP:0002093 failure progressive respiratory +HP:0002093 function loss respiratory +HP:0002093 impairment respiratory +HP:0002093 insufficiency respiratory +HP:0002092 blood increased lungs pressure vessels +HP:0002092 artery hypertension pulmonary +HP:0002092 arterial hypertension pulmonary +HP:0002092 hypertension primary pulmonary +HP:0002094 breathing trouble +HP:0002094 dyspnea +HP:0002097 emphysema +HP:0002097 emphysema pulmonary +HP:0002099 airway disease reactive +HP:0002099 asthma +HP:0002099 asthma bronchial +HP:0002098 breathing difficulty +HP:0002098 breath shortness +HP:0002098 distress respiratory +HP:0002098 difficulties respiratory +HP:0002098 breathing difficulties +HP:0002098 breath short +HP:0007608 abnormal dermal palmar ridges +HP:0005841 calcific cartilaginous infantile skeleton stippling +HP:0030331 impaired induced skin stimulus wrinkling +HP:0030330 cartilage chondrocytes epiphyseal giant multinucleated +HP:0030333 abnormal alpha beta cell morphology t +HP:0030335 abnormal alpha beta cd25 cd4 cell count positive regulatory t +HP:0030334 abnormal alpha beta cd25 cd4 cell morphology positive regulatory t +HP:0030337 cd25 cd4 cell count elevated positive regulatory t +HP:0030336 absence cd25 cd4 tregs +HP:0030336 absence cd25 cd4 cells positive regulatory t +HP:0030336 absence cd25 cd4 cells regulatory t +HP:0008633 agenesis gonadal +HP:0008633 agonadism +HP:0008633 absent gonadal tissue +HP:0030338 abnormal circulating gonadotropin level +HP:0007111 chronic encephalopathy hepatic +HP:0007110 central hypoventilation +HP:0007117 atrophy corticospinal tract +HP:0008636 glomerulopathy lobular +HP:0007115 encephalocele orbital +HP:0100234 bone end innermost part pinky toe triangular +HP:0100234 bone end innermost part pinkie toe triangular +HP:0100234 5th epiphysis phalanx proximal toe triangular +HP:0100234 bone end innermost little part toe triangular +HP:0100235 bones fusion involving toes +HP:0100235 bones involving synostosis toes +HP:0100237 foot proximal symphalangism +HP:0100230 5th epiphysis ivory phalanx proximal toe +HP:0100230 bone density end increased innermost part pinkie toe +HP:0100230 bone density end increased innermost part pinky toe +HP:0100230 bone density end increased innermost little part toe +HP:0100231 5th phalanx proximal pseudoepiphysis toe +HP:0100232 bone end innermost little part small toe +HP:0100232 bone end innermost part pinky small toe +HP:0100232 bone end innermost part pinkie small toe +HP:0100232 5th epiphysis phalanx proximal small toe +HP:0100233 bone calcifications end innermost little part speckled toe +HP:0100233 bone calcifications end innermost part pinkie speckled toe +HP:0100233 bone calcifications end innermost part pinky speckled toe +HP:0100233 5th epiphysis phalanx proximal stippling toe +HP:0005844 finger middle phalanx rounded +HP:0005844 bone finger middle rounded +HP:0100238 bones fusion involving limbs upper +HP:0100238 bones involving limbs synostosis upper +HP:0410197 4 activity blood cells epimerase glucose increased red udp +HP:0410197 4 activity blood cells diphosphate epimerase glucose increased red uridine +HP:0011394 nerve thin vestibular +HP:0011394 cranial hypoplasia nerve viii +HP:0011394 cranial eighth hypoplasia nerve +HP:0011394 hypoplasia nerve vestibular +HP:0012331 abnormal autonomic morphology nervous system +HP:0005879 contractures finger flexion +HP:0005879 contractures finger +HP:0012789 calcaneus hypoplastic +HP:0012789 calcaneus hypoplasia +HP:0012789 bone heel small +HP:0012789 bone heel underdeveloped +HP:0007984 adapted amplitude b bright dark electroretinogram flash reduced wave +HP:0007984 electronegative erg +HP:0007984 b electroretinogram reduced rod wave +HP:0007984 amplitude b electroretinogram reduced wave +HP:0007984 electronegative electroretinogram +HP:0007984 amplitude b erg reduced wave +HP:0025360 polycalycosis +HP:0025361 abnormality medullary morphology pyramid +HP:0025362 hypoplasia medullary pyramid renal +HP:0025362 hypoplasia medullary pyramids +HP:0025363 endocapillary hypercellularity +HP:0025364 extracapillary hypercellularity +HP:0025364 extracapillary glomerular hypercellularity +HP:0025367 trichoepithelioma +HP:0025368 abnormality growth morphology plate +HP:0025369 growth plates thick +HP:0005849 calcification cerebral diffuse +HP:0005848 bone notched outermost thumb +HP:0005848 bifid distal phalanx thumb +HP:0000737 irritability +HP:0000737 irritable +HP:0000735 impaired interactions social +HP:0000735 impaired interaction social +HP:0000735 interactions poor social +HP:0012418 blood level low oxygen +HP:0012418 hypoxemia +HP:0012419 hyperoxemia +HP:0012414 atrophy duodenal +HP:0012415 abnormal blood gas level +HP:0012416 hypercarbia +HP:0012416 blood carbon dioxide high level +HP:0012416 hypercapnia +HP:0012417 blood carbon dioxide reduced +HP:0012417 hypocarbia +HP:0012417 hypocapnia +HP:0012410 aplasia cell red +HP:0012410 aplasia cell pure red +HP:0011509 hyperpigmentation macular +HP:0012412 adrenarche premature +HP:0012413 hutchinson incisor s +HP:0012413 baby front notched tooth +HP:0012413 hutchinson s teeth +HP:0012413 front notched primary tooth +HP:0012413 central incisor notched primary +HP:0012413 deciduous front notched tooth +HP:0012413 boeck hutchinson teeth +HP:0012413 hutchinson s sign +HP:0012413 incisor primary syphilitic +HP:0100729 face large +HP:0100729 big face +HP:0100729 facies large +HP:0430009 eyelid short +HP:0430009 eyelid underdevelopment +HP:0430009 eyelid small +HP:0430009 decreased eyelid size +HP:0430009 eyelid hypoplasia +HP:0430008 accessory eyelid +HP:0430008 extra eyelid +HP:0430008 double eyelid +HP:0006579 jaundice neonatal +HP:0006579 newborn prolonged skin yellowing +HP:0006579 jaundice neonatal prolonged +HP:0006576 liver malformations vascular +HP:0006576 hepatic malformations vascular +HP:0006577 cirrhosis macronodular +HP:0006574 arteriovenous hepatic malformation +HP:0006574 arteriovenous liver malformation +HP:0006575 cholestasis episodic intrahepatic jaundice with +HP:0006572 hepatitis progressive subacute viral +HP:0006573 acute hepatic steatosis +HP:0006573 acute fatty liver +HP:0430005 anomaly bone ethmoid +HP:0430005 bone deformity ethmoid +HP:0430005 abnormality bone ethmoid +HP:0430005 bone ethmoid malformation +HP:0006571 ductopenia hepatic +HP:0006571 bile ducts intrahepatic number reduced +HP:0006571 deficiency duct intrahepatic +HP:0011503 absent fovea +HP:0011503 aplasia fovea +HP:0011502 lenticonus posterior +HP:0007590 aplasia area congenita cutis over parietal posterior +HP:0100720 cartilage ear underdeveloped +HP:0100720 cartilage ear hypoplasia +HP:0010359 3rd absent bones small toe +HP:0010359 3rd absent bones toe underdeveloped +HP:0010359 3rd aplasia hypoplasia phalanges toe +HP:0100726 kaposi s sarcoma +HP:0009348 bone cone end finger innermost middle part shaped +HP:0009348 3rd cone epiphysis finger phalanx proximal shaped +HP:0008504 hearing impairment moderate sensorineural +HP:0008504 deafness moderate neural +HP:0000930 elevated imprint sinuses transverse +HP:0000930 bones elevated imprint over posterior sinuses skull transverse +HP:0000930 bone bulging occipital over sinuses thinning transverse +HP:0000930 bones bulging over posterior sinuses skull thinning transverse +HP:0000930 bone elevated imprint occipital over sinuses transverse +HP:0031179 nuchal rigidity +HP:0031179 meningism +HP:0000932 abnormality cranial fossa posterior +HP:0000932 abnormality fossa posterior +HP:0000932 anomaly fossa posterior +HP:0000933 at cyst fossa fourth posterior ventricle +HP:0000934 calcium deposits joints +HP:0000934 chondrocalcinosis +HP:0008507 ophthalmoparesis static +HP:0000938 osteopenia +HP:0000938 generalized osteopenia +HP:0000939 osteoporosis +HP:0031172 pigmentosa retinitis sectoral +HP:0011504 bull eye maculopathy s +HP:0011504 chloroquine retinopathy +HP:0031174 double layered patella +HP:0031175 absent cervical vertebra +HP:0031176 absent thoracic vertebra +HP:0031177 finger flexor weakness +HP:0200055 hands small +HP:0200055 hand small +HP:0200055 disproportionately hands small +HP:0010358 2nd abnormality phalanx proximal toe +HP:0010358 2nd abnormality bone innermost toe +HP:0006790 cerebral changes cortex spongiform with +HP:0200056 macular scarring +HP:0200056 macular scar +HP:0200050 bracket epiphyses metacarpal +HP:0200050 bone bracket end hand long part shaped +HP:0006794 ability decade first loss to walk +HP:0009118 aplasia hypoplasia mandible +HP:0006799 basal cystic ganglia lesions +HP:0006799 basal cysts ganglia +HP:0200059 angiosarcoma metastatic +HP:0200058 angiosarcoma +HP:0005873 big polysyndactyly toe +HP:0005873 great polysyndactyly toe +HP:0005873 hallux polysyndactyly +HP:0002910 elevated hepatic transaminase +HP:0002910 enzymes high liver +HP:0002910 elevated transaminases +HP:0002910 abnormal function liver tests +HP:0002910 abnormal function liver +HP:0002910 enzymes increased liver +HP:0002910 function increased liver tests +HP:0002910 abnormal function liver subclinical tests +HP:0002910 elevated serum transaminases +HP:0002910 elevated function liver tests +HP:0002910 abnormal enzymes liver +HP:0002910 increased transaminases +HP:0002910 elevated enzymes liver +HP:0003429 cns hypomyelination +HP:0003429 hypomyelination +HP:0004863 anemia compensated hemolytic +HP:0002913 myoglobinuria +HP:0004860 anemia megaloblastic responsive thiamine +HP:0012411 premature pubarche +HP:0012411 growth hair premature pubic +HP:0031017 atrial cheese defect septal swiss +HP:0004431 complement deficiency +HP:0031015 cirrhotic hypertension idiopathic non portal +HP:0031015 obliterative portal venopathy +HP:0031015 cirrhotic fibrosis non portal +HP:0031015 cirrhosis incomplete septal +HP:0031015 intrahepatic portal sclerosis vein +HP:0004713 failure kidney reversible +HP:0004713 failure renal reversible +HP:0031013 ankylosis +HP:0031012 cap fibroatheroma thin +HP:0031011 fatty streak +HP:0031011 lesion sudanophilic +HP:0003426 atrophy dorsal first interossei muscle +HP:0004866 adp aggregation impaired induced platelet +HP:0004345 abnormality ganglioside metabolism +HP:0031019 bone marrow neutrophils pyknotic +HP:0031018 eccrine syringofibroadenoma +HP:0031018 acrosyringeal adenomatosis +HP:0031018 eccrine hyperplasia syringofibroadenomatous +HP:0031018 syringofibroadenoma +HP:0004344 abnormality cerebrosidase metabolism +HP:0004864 anemia refractory sideroblastic +HP:0003423 kyphoscoliosis thoracolumbar +HP:0003423 dorsolumbar kyphosis +HP:0004717 axial kidney malrotation +HP:0004434 c8 deficiency +HP:0010204 broad phalanx proximal toe +HP:0010204 bone broad innermost toe +HP:0004437 bones excessive growth skull +HP:0004437 bones cranial increased ossification +HP:0004437 cranial hyperostosis vault +HP:0004437 bones skull thick +HP:0004437 bones cranial hyperostosis +HP:0004437 bones overgrowth skull +HP:0004437 bones cranial hypertrophy +HP:0004437 cranial hyperostosis +HP:0004437 bones enlargement skull +HP:0009116 aplasia bones hypoplasia involving skull +HP:0000242 bone bossing parietal +HP:0000242 bossing parietal +HP:0000242 biparietal bossing +HP:0000243 shape skull triangular +HP:0000243 trigonocephaly +HP:0000243 head shaped wedge +HP:0000243 shaped skull wedge +HP:0000243 cranium shape triangular +HP:0000243 head shape triangular +HP:0000243 cranium shaped wedge +HP:0000240 abnormality cranium size +HP:0000240 abnormality head size +HP:0000240 abnormality size skull +HP:0000246 sinusitis +HP:0000246 disease sinus +HP:0000246 inflammation sinus +HP:0000246 infection sinus +HP:0000244 brachyturricephaly +HP:0000244 brachy turricephaly +HP:0000244 forehead high prominent +HP:0000244 turribrachycephaly +HP:0000245 abnormality head sinuses +HP:0000245 abnormality paranasal sinuses +HP:0000245 abnormality sinuses +HP:0000248 broad cranium shape +HP:0000248 shape skull wide +HP:0000248 cranium shape wide +HP:0000248 broad short skull +HP:0000248 broad shape skull +HP:0000248 head shape wide +HP:0000248 brachycephaly +HP:0000248 broad head shape +HP:0008031 cataracts posterior sutural y +HP:0008031 cataract posterior sutural y +HP:0008030 retinal vaculitis +HP:0008030 arteritis retinal +HP:0100830 ear round +HP:0100831 abnormality k metabolism vitamin +HP:0100836 central malignant neoplasm nervous system +HP:0008034 abnormal iris pigmentation +HP:0008037 absent anterior chamber eye +HP:0100835 benign central neoplasm nervous system +HP:0008039 corneal opacities subepithelial +HP:0008038 aplastic glands hypoplastic lacrimal +HP:0008038 absent glands lacrimal underdeveloped +HP:0008038 absent glands tear underdeveloped +HP:0100838 abscess cutaneous formation recurrent +HP:0100839 development failed liver +HP:0100839 agenesis hepatic +HP:0100839 agenesis liver +HP:0009201 5th epiphysis finger phalanx proximal stippling +HP:0009201 bone calcifications end finger innnermost part pinkie speckled +HP:0009201 bone calcifications end finger innnermost little part speckled +HP:0009201 bone calcifications end finger innnermost part pinky speckled +HP:0003916 bands density humeral normal transverse +HP:0009203 absent bone end finger middle part pinkie +HP:0009203 absent bone end finger little middle part +HP:0009203 absent bone end finger middle part pinky +HP:0009203 5th absent epiphysis finger middle phalanx +HP:0009202 bone end finger fragmentation innermost part pinky +HP:0009202 bone end finger fragmentation innermost part pinkie +HP:0009202 5th epiphysis finger fragmentation phalanx proximal +HP:0009202 bone end finger fragmentation innermost little part +HP:0009205 5th cone epiphysis finger middle phalanx shaped +HP:0009205 bone cone end finger middle part pinkie shaped +HP:0009205 bone cone end finger little middle part shaped +HP:0009205 bone cone end finger middle part pinky shaped +HP:0009204 bone bracket end finger middle part pinky shaped +HP:0009204 bone bracket end finger little middle part shaped +HP:0009204 bone bracket end finger middle part pinkie shaped +HP:0009204 5th bracket epiphysis finger middle phalanx +HP:0009207 bone end finger fragmentation middle part pinkie +HP:0009207 bone end finger fragmentation middle part pinky +HP:0009207 5th epiphysis finger fragmentation middle phalanx +HP:0009207 bone end finger fragmentation little middle part +HP:0003910 expanded humeral metaphyses +HP:0003910 enlarged humeral metaphyses +HP:0003910 arm bone enlarged long portion upper wide +HP:0009209 bone density end finger increased middle part pinky +HP:0009209 bone density end finger increased middle part pinkie +HP:0009209 5th epiphysis finger ivory middle phalanx +HP:0009209 bone density end finger increased little middle part +HP:0009208 bone end finger irregular little middle part +HP:0009208 5th epiphysis finger irregular middle phalanx +HP:0009208 bone end finger irregular middle part pinky +HP:0009208 bone end finger irregular middle part pinkie +HP:0003919 humeral longitudinal metaphysis sclerotic striations with +HP:0003918 arm bone hardening long portion upper wide +HP:0003918 humeral metaphysis sclerotic +HP:0003918 arm bone long portion stiffening upper wide +HP:0001223 fifth metacarpals pointed proximal second through +HP:0001222 spatulate thumbs +HP:0001222 shaped spoon thumbs +HP:0001220 contractures flexion interphalangeal joint +HP:0001220 contracture finger interphalangeal joint +HP:0030946 conjunctival papillae +HP:0030947 conjunctival follicles +HP:0001225 swelling wrist +HP:0030494 hemorrhage macular microaneurysm +HP:0030495 abnormality macular vasculature +HP:0030496 exudate macular +HP:0030496 exudation macular +HP:0030496 exudates macular +HP:0030497 cotton macular spot wool +HP:0030490 exudative vitreoretinopathy +HP:0030491 atrophy choriocapillaris +HP:0030493 abnormality foveal pigmentation +HP:0005546 cell increased osmotic red resistance +HP:0005547 disorder myeloproliferative +HP:0000796 obstruction urethral +HP:0000065 enlargement lips vaginal +HP:0000065 enlargement labia +HP:0000065 hypertrophy labial +HP:0005542 clotting prolonged time +HP:0005542 blood clotting prolonged time whole +HP:0005543 activity c protein reduced +HP:0005543 c deficiency protein +HP:0005540 blood cells distorted keratocytes red resembling +HP:0005540 blood cell keratocytosis red +HP:0005541 agranulocytosis +HP:0000798 oligospermia +HP:0000798 count low sperm +HP:0000799 renal steatosis +HP:0000799 fatty kidney +HP:0005548 megakaryocytopenia +HP:0000069 abnormality ureter +HP:0000069 anomalies ureteral +HP:0000069 issue ureter +HP:0000069 abnormality ureters +HP:0011257 crus helix serpiginous +HP:0100785 fragmented sleep +HP:0100785 insomnia +HP:0100786 hypersomnia +HP:0100786 excessive sleepiness +HP:0100787 neoplasm prostate +HP:0011253 1 cryptotia type +HP:0011253 cryptotia i type +HP:0100781 abnormality joint sacroiliac +HP:0011251 antitragus underdeveloped +HP:0011251 antitragus hypoplastic +HP:0011251 antitragus hypotrophic +HP:0011251 antitragus small +HP:0100783 aplasia breast +HP:0100783 absence breast +HP:0100783 absent breast +HP:0100783 aplasia gland mammary +HP:0004493 bones craniofacial increased ossification +HP:0004493 bones craniofacial thick +HP:0004493 craniofacial hyperostosis +HP:0004493 bones craniofacial overgrowth +HP:0004493 bones craniofacial excessive growth +HP:0004493 bones craniofacial enlargement +HP:0004493 bone excessive face growth skull +HP:0004493 bones craniofacial hyperostosis +HP:0004493 bones craniofacial hypertrophy +HP:0004492 fontanelles patent sutures widely +HP:0004492 fontanels patent sutures widely +HP:0004491 fontanelle large posterior +HP:0004491 fontanel large posterior +HP:0004490 bones calvarial overgrowth +HP:0004490 bones calvarial excessive growth +HP:0004490 calvarial hyperostosis +HP:0004490 bones calvarial thick +HP:0004490 bones calvarial increased ossification +HP:0004490 bones calvarial hyperostosis +HP:0004490 bones calvarial enlargement +HP:0004490 bones calvarial hypertrophy +HP:0004490 overgrowth skullcap +HP:0100788 fusion lips lower upper +HP:0100788 fused lips +HP:0100788 adhesion lips lower upper +HP:0100789 maxillary torus +HP:0100789 midpalatal prominent ridge +HP:0100789 palatal torus +HP:0100789 palatal tori +HP:0100789 exostoses palate +HP:0100789 palatinus torus +HP:0004495 anteverted nares thin +HP:0011258 bridge crus helix tragal +HP:0001560 abnormality amniotic fluid +HP:0001560 abnormal amniotic fluid +HP:0001561 polyhydramnios +HP:0001561 hydramnios +HP:0001561 amniotic fluid high levels +HP:0430003 bone deformity palatine +HP:0430003 anomaly bone palatine +HP:0430003 bone malformation palatine +HP:0430003 abnormality bone palatine +HP:0001562 maternal oligohydramnios +HP:0001562 amniotic fluid levels low +HP:0001562 oligohydramnios +HP:0430002 abnormality bone lacrimal +HP:0430002 bone lacrimal malformation +HP:0430002 bone deformity lacrimal +HP:0430002 anomaly bone lacrimal +HP:0011399 atrophy tibialis +HP:0011399 degeneration muscle tibialis +HP:0000163 abnormal cavity morphology oral +HP:0000163 abnormality cavity oral +HP:0430000 anomaly bone frontal +HP:0430000 bone frontal malformation +HP:0430000 abnormality bone forehead +HP:0430000 abnormality bone frontal +HP:0430000 abnormal bone frontal morphology +HP:0430000 bone deformity frontal +HP:0430007 adhesion eye eyelid globe to +HP:0430007 symblepharon +HP:0430007 eyeball eyelid stuck to +HP:0003352 bone chromosome endopolyploidy marrow on studies +HP:0000161 cleft lip median +HP:0000161 cleft lip midline +HP:0000161 central cleft lip upper +HP:0000996 capillary facial hemangioma +HP:0000160 mouth small +HP:0000160 microstomia +HP:0000160 aperture oral small +HP:0000160 mouth narrow +HP:0032098 hypomanganesemia +HP:0032098 a below blood concentration manganese normal reduction +HP:0032099 furrowing perioral radial +HP:0032096 abnormal concentration manganese +HP:0032097 hypermanganesemia +HP:0032097 blood concentration increased manganese +HP:0032094 circulating increased level protein surfactant +HP:0032094 increased level protein serum surfactant +HP:0430004 faciosynostosis frontomalar +HP:0032092 left obstruction outflow tract ventricular +HP:0032090 aortic fibrosis intralamellar medial +HP:0032091 aortic fibrosis medial translamellar +HP:0007989 exudate intraretinal +HP:0007372 atrophy corticospinal degeneration involving tracts +HP:0005404 b cell count increase +HP:0005404 b cells increased number +HP:0005404 b cell increase number +HP:0005404 b cell count increased +HP:0010702 gamma globulin increased +HP:0010702 antibody blood increased level +HP:0010702 hypergammaglobulinemia +HP:0010702 hypergammaglobulinaemia +HP:0010702 elevated immunoglobulin levels +HP:0010702 gamma globulin increased serum +HP:0010702 immunoglobulin levels raised +HP:0010702 hyperglobulinemia +HP:0010702 immunoglobulin increased level +HP:0010701 abnormal concentration immunoglobulin +HP:0010701 abnormal immunoglobulin levels serum +HP:0010701 abnormality immunoglobulin +HP:0010701 abnormal concentration immunoglobulin serum +HP:0010701 abnormal immunoglobulin level +HP:0010701 abnormal immunoglobulin level serum +HP:0010258 bracket epiphyses hand middle phalanges +HP:0010258 bones bracket end hand middle part shaped +HP:0010259 cone epiphyses middle phalanges shaped +HP:0010259 cone epiphyses hand middle phalanges shaped +HP:0010259 bones cone end hand middle part shaped +HP:0010704 1st 2nd finger webbed +HP:0010704 1 2 finger syndactyly +HP:0010704 finger index thumb webbed +HP:0010705 4th 5th finger webbed +HP:0010705 4 5 finger syndactyly +HP:0010254 bones end hand outermost part small +HP:0010254 distal epiphyses hand phalanges small +HP:0010255 distal epiphyses hand phalanges stippling +HP:0010255 bones calcifications end hand outermost part speckled +HP:0010256 distal epiphyses hand phalanges triangular +HP:0010256 bones end hand outermost part triangular +HP:0010257 absent epiphyses hand middle phalanges +HP:0010257 absent bones end hand middle part +HP:0010250 bones end fragmentation hand outermost part +HP:0010250 distal epiphyses fragmentation hand phalanges +HP:0010251 distal epiphyses hand irregular phalanges +HP:0010251 bones end hand irregular outermost part +HP:0010252 distal epiphyses hand ivory phalanges +HP:0010252 distal eburnated epiphyses phalanges +HP:0010252 bone bones density end hand increased outermost part +HP:0010253 distal hand phalanges pseudoepiphyses +HP:0100461 3rd middle patchy phalanx sclerosis toe +HP:0100461 3rd bone density increase middle toe 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complete duplication partial phalanges toe +HP:0010391 bones duplication pinkie toe +HP:0010391 bones duplication pinky toe +HP:0010391 duplication fifth phalanges toe +HP:0010391 bones duplication little toe +HP:0010390 bone little shaped toe triangular +HP:0010390 5th phalanges shaped toe triangular +HP:0010390 bone pinkie shaped toe triangular +HP:0010390 bone pinky shaped toe triangular +HP:0010393 5th abnormality middle phalanx toe +HP:0010393 abnormality bone middle pinky toe +HP:0010393 abnormality bone little middle toe +HP:0010393 abnormality bone middle pinkie toe +HP:0010392 abnormality bone outermost pinkie toe +HP:0010392 abnormality bone outermost pinky toe +HP:0010392 5th abnormality distal phalanx toe +HP:0010392 abnormality bone little outermost toe +HP:0031202 casts waxy +HP:0031203 casts fatty +HP:0031972 presyncope +HP:0031201 casts granular +HP:0031206 hyperintensity striatal t2 +HP:0031207 hemangioma liver +HP:0031207 hemangioma hepatic +HP:0031204 bacterial casts 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anomaly nasal skeleton +HP:0010936 abnormality lower tract urinary +HP:0031073 abnormal endocrine response stimulation test to +HP:0006504 anomaly diaphyses limb +HP:0006504 abnormality bone limbs long shaft +HP:0006504 abnormality diaphyses involving limbs +HP:0009104 aplasia bone hypoplasia pubic +HP:0009104 absent bones pubic small +HP:0009104 aplastic bones hypoplastic pubic +HP:0009104 absent bones pubic underdeveloped +HP:0030319 facial muscles myasthenia +HP:0030319 facial musculature weakness +HP:0030319 face weakness +HP:0030319 decreased facial muscles strength +HP:0030319 decreased facial muscle strength +HP:0030319 facial muscle reduced strength +HP:0030319 facial muscle weakness +HP:0030319 facial weakness +HP:0030318 cheilitis commissural +HP:0030318 angular stomatitis +HP:0030318 corners inflammation mouth +HP:0030318 corners mouth red sore +HP:0030318 angular cheilosis +HP:0030318 commisures inflammation oral +HP:0030318 angular cheilitis +HP:0009105 abnormal bone 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clinodactyly second toes +HP:0005824 2nd curvature toe +HP:0005824 2nd clinodactyly toe +HP:0005820 anomalies rib superior +HP:0005829 joint maldevelopment radioulnar +HP:0005828 infiltrates pulmonary transient +HP:0008628 abnormality stapes +HP:0008628 abnormalities stapedial +HP:0011596 aorta aortic arch arteriosus descending ductus left right with +HP:0007799 conjunctival deposits like salt whitish +HP:0012477 tremor vocal +HP:0012477 shakey voice +HP:0012474 artery carotid obstructed +HP:0012474 artery carotid occlusion +HP:0011597 aorta aortic arch arteriosus descending ductus left right with +HP:0012472 everted lips +HP:0012472 eclabium +HP:0012472 lips outward turned +HP:0012472 eclabion +HP:0012473 lingual wasting +HP:0012473 tongue wasting +HP:0012473 atrophy lingual +HP:0012473 atrophy tongue +HP:0012470 eyes setting sun +HP:0012470 eye sunsetting +HP:0012470 downward eyes fixed +HP:0012470 eye phenomenon setting sun +HP:0012471 lips prominent +HP:0012471 lips thick 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phalanges thumb +HP:0009653 bone curved thumb +HP:0009653 curved phalanx thumb +HP:0009650 distal hypoplastic phalanx small thumb +HP:0009650 hypoplastic phalanx terminal thumb +HP:0009650 distal phalanx short thumb +HP:0009650 bone outermost short thumb +HP:0009650 phalanx small terminal thumb +HP:0009650 phalanx short terminal thumb +HP:0009656 symphalangism thumb +HP:0009656 fused phalanges thumb +HP:0009656 distal phalanges proximal symphalangism thumb +HP:0009656 bones fused thumb +HP:0009657 bone shaped thumb triangular +HP:0009657 phalanges shaped thumb triangular +HP:0009657 phalanx shaped thumb triangular +HP:0009657 phalanges thumb triangular +HP:0009654 defects osteolytic phalanges thumb +HP:0009654 defect osteolytic phalanx thumb +HP:0009655 bone density increase thumb uneven +HP:0009655 patchy phalanx sclerosis thumb +HP:0009655 patchy phalanges sclerosis thumb +HP:0007188 bilateral facial palsy +HP:0007188 bilateral facial weakness +HP:0007188 diplegia facial +HP:0200000 age bone dysharmonic +HP:0200000 dysharmonic maturation skeletal +HP:0007634 anterior ischemic neuropathy nonarteritic optic +HP:0003904 bones end limb part upper wide +HP:0003904 broad epiphyses limbs upper +HP:0003904 epiphyses limbs upper wide +HP:0007185 out passing +HP:0007185 consciousness loss +HP:0100832 veils vitreous +HP:0100832 myodesopsia +HP:0100832 opacities vitreous +HP:0100832 mouches volantes +HP:0100832 eyes front spots +HP:0100832 condensations vitreous +HP:0100832 debris vitreous +HP:0100832 eye floaters +HP:0100832 myodeopsia +HP:0100832 floaters vitreous +HP:0100832 flies flitting +HP:0007187 focal lissencephaly +HP:0100833 intestine small tumor +HP:0100833 intestine neoplasm small +HP:0012209 juvenile leukemia myelomonocytic +HP:0003905 abnormality epiphyseal humeral plate +HP:0003905 abnormality arm bone growth long plate +HP:0012208 nonmotile sperm +HP:0011446 abnormality function higher mental +HP:0001791 ascites fetal +HP:0001790 fetalis hydrops nonimmune +HP:0001790 fetal hydrops immune non +HP:0001790 fetalis hydrops immune non +HP:0001790 hydrops nonimmune +HP:0001025 hives +HP:0001025 urticaria +HP:0001024 angulation apex bone dimple long over skin +HP:0001795 hyperconvex nail +HP:0001795 nail overcurvature +HP:0001026 foot penetrating ulcers +HP:0001029 poikiloderma +HP:0008035 central pigmentosa retinitis +HP:0008035 inversa pigmentosa retinitis +HP:0001799 nail short +HP:0001799 nails short +HP:0001798 anonychia +HP:0001798 absent nails +HP:0001798 aplastic nails +HP:0011444 decorticate rigidity +HP:0100837 atrophodermia vermiculata +HP:0100837 atrophoderma vermiculata +HP:0000264 abnormality mastoid +HP:0000264 abnormality bone mastoid process temporal +HP:0000265 mastoiditis +HP:0012892 facial hypertrophy muscle +HP:0012892 facial increased muscles size +HP:0012892 facial hyperplasia muscles +HP:0012892 facial large muscles +HP:0000267 asymmetry cranial vault +HP:0000267 cranium malformation shape +HP:0000267 asymmetry cranial +HP:0000267 abnormality cranium shape +HP:0000267 abnormality cranial shape vault +HP:0000267 head malformation shape +HP:0000267 asymmetry cranium +HP:0000267 abnormality head shape +HP:0000267 cranial malformation shape vault +HP:0000267 asymmetry head +HP:0000267 head shape uneven +HP:0000260 anterior fontanel large open +HP:0000260 anterior fontanelle large +HP:0000260 anterior fontanel large +HP:0000260 anterior fontanelle open wide +HP:0000260 anterior fontanel wide +HP:0000260 anterior fontanels large +HP:0000260 skull soft spot than typical wider +HP:0000260 anterior fontanelle large open +HP:0000260 anterior fontanelle wide +HP:0012895 hypertrophy muscle scapular +HP:0012896 abnormal evoked motor potentials +HP:0012897 abnormal evoked limb motor potentials upper +HP:0012898 abnormal evoked limb lower motor potentials +HP:0011442 abnormality central function motor +HP:0008011 cornea opacification peripheral +HP:0008011 corneal opacity peripheral +HP:0000268 dolichocephalic large skull +HP:0000268 turridolichocephaly +HP:0000268 dolichocephaly +HP:0000268 cranium narrow shape +HP:0000268 head long narrow +HP:0000268 head narrow shape +HP:0000268 narrow skull tall +HP:0000268 narrow shape skull +HP:0000269 head posterior prominent +HP:0000269 cranium posterior prominent +HP:0000269 back head protruding +HP:0000269 occiput protruding +HP:0000269 occiput prominent +HP:0000269 back head prominent +HP:0000269 posterior prominent skull +HP:0000269 back prominent skull +HP:0011443 abnormality coordination +HP:0011443 coordination issue +HP:0100814 dermal melanocytosis +HP:0100814 mongolian spot +HP:0100814 blue nevus +HP:0500158 abnormality aspartate metabolism +HP:0009229 bone curved finger innermost little +HP:0009229 bone curved finger innermost pinkie +HP:0009229 bone curved finger innermost pinky +HP:0009229 5th curved finger phalanx proximal +HP:0009228 bone bullet finger innermost pinkie shaped +HP:0009228 5th bullet finger phalanx proximal shaped +HP:0009228 bone bullet finger innermost pinky shaped +HP:0009228 bone bullet finger innermost little shaped +HP:0100810 helix pointed +HP:0100810 ear s spock +HP:0100810 ear elfin +HP:0100810 ear pointed +HP:0011440 alcohol induced rhabdomyolysis +HP:0100812 ex foetor ore +HP:0100812 halitosis +HP:0100812 bad breath +HP:0100813 testicular torsion +HP:0100813 cord spermatic torsion +HP:0009223 bone calcifications end finger middle part ring speckled +HP:0009223 4th epiphysis finger middle phalanx stippling +HP:3000029 abnormality depressor inferioris labii +HP:3000029 abnormality depressor inferioris labii muscle +HP:0009221 4th finger middle phalanx pseudoepiphysis +HP:0011441 abnormality medulla oblongata +HP:0011441 abnormality myencephalon +HP:0009227 bone broad finger innermost pinkie +HP:0009227 bone broad finger innermost pinky +HP:0009227 5th broad finger phalanx proximal +HP:0009227 bone broad finger innermost little +HP:0009227 5th finger phalanx proximal wide +HP:0100819 fistula intestinal +HP:0009225 absent bone finger innermost pinky +HP:0009225 absent bone finger innermost pinkie +HP:0009225 5th aplasia finger phalanx proximal +HP:0009225 absent bone finger innermost little +HP:0009224 4th epiphysis finger middle phalanx triangular +HP:0009224 bone end finger middle part ring triangular +HP:0009224 4th delta epiphysis finger middle phalanx shaped +HP:0010422 2nd bone complete duplication innermost toe +HP:0010422 2nd complete duplication phalanx proximal toe +HP:0010422 complete duplication phalanx proximal second toe +HP:0007867 external ophthalmoplegia partial restrictive +HP:0012534 dysesthesia +HP:0012534 dysaesthesia +HP:0012534 dysesthesias +HP:0001245 hypoplasia thenar +HP:0001245 eminences hypoplastic thenar +HP:0001245 hypoplasia muscle thenar +HP:0001245 eminence small thenar +HP:0001245 decreased eminence thenar +HP:0030965 aortic stiffness +HP:0030965 aortic increased stiffness +HP:0030966 abnormal artery morphology pulmonary +HP:0002949 fused neck +HP:0002949 cervical fused vertebrae +HP:0002949 cervical fusion vertebrae +HP:0002949 cervical fusion vertebral +HP:0002949 cervical fusion spine +HP:0001241 capitate fused hamate +HP:0001241 capitate fusion hamate +HP:0001241 capitate fusions hamate +HP:0030961 microspherophakia +HP:0030962 abnormal great morphology vessels +HP:0003066 extension knee limited +HP:0030968 abnormal morphology pulmonary vein +HP:0001248 bones hand short tubular +HP:0001248 bones hand short shortened tubular +HP:0004287 bones hand pointed +HP:0003917 humeral metaphysis pointed +HP:0003917 arm bone long pointed portion upper wide +HP:0009200 5th finger phalanx proximal pseudoepiphysis +HP:3000021 abnormality buccal fat pad +HP:0010424 2nd bone complete duplication outermost toe +HP:0010424 2nd complete distal duplication phalanx toe +HP:0009926 epiphora +HP:0009926 increased lacrimation +HP:0009926 tearing +HP:0009926 increased tears +HP:0009926 eyes watery +HP:0003915 defects humeral lytic metaphysis +HP:3000020 abnormality minor muscle zygomaticus +HP:0040068 abnormality bone limb +HP:0004634 bodies cuboid vertebral +HP:0004634 bodies cuboid shaped vertebral +HP:0000025 abnormality functional genitalia internal male +HP:0040062 radius slender +HP:0003913 arm bone irregular long portion upper wide +HP:0003913 humeral irregular metaphyses +HP:0003913 humeral irregularity metaphyseal +HP:0200001 accelerated age bone dysharmonic +HP:0040061 osteosclerosis radius +HP:0040066 abnormal bones limbs lower morphology +HP:0040066 abnormal bones limbs lower shape +HP:0004288 bones hand pseudoepiphyses +HP:0040064 dysmelia +HP:0040064 anomaly limb +HP:0040064 abnormality limbs +HP:0040064 abnormal limbs +HP:0003912 frayed humeral metaphyses +HP:0012289 face tumor +HP:0012289 facial neoplasm +HP:0003837 around ossification shoulders soft tissue +HP:0003837 around calcification shoulders soft tissue +HP:0003911 flared humerus +HP:0003911 flared humeral metaphysis +HP:0003911 arm bone flared long portion upper wide +HP:0003911 broad humeral metaphysis wide +HP:0004630 anterior beaking thoracic vertebrae +HP:0011626 anomaly scimitar +HP:0011626 pulmonary syndrome venolobar +HP:0011626 scimitar syndrome +HP:0100373 4th absent bone middle toe underdeveloped +HP:0100373 4th absent bone middle small toe +HP:0100373 4th aplasia hypoplasia middle phalanx toe +HP:0005233 gallbladder hypoplastic +HP:0005233 gallbladder hypoplasia +HP:0005234 intestinal neonatal obstruction +HP:0011627 aorto tunnel ventricular +HP:0005235 atresia jejunal +HP:0003795 middle phalanges short toes +HP:0003795 bones feet middle short +HP:0003795 middle phalanx short toe +HP:0003797 atrophy girdle limb muscle +HP:0003797 girdle limb myopathy +HP:0003797 girdle limb muscle wasting +HP:0003796 crest iliac irregular +HP:0003791 amyloid beta deposits immunoreactive protein to +HP:0004639 alpha amniotic elevated fetoglobulin fluid +HP:0004639 1 alpha amniotic elevated fetoprotein fluid +HP:0004639 alpha amniotic elevated fetoprotein fluid +HP:0004639 alpha amniotic elevated fetal fluid protein +HP:0003799 age bone delay marked +HP:0003799 marked maturation retardation skeletal +HP:0003799 age bone markedly retarded +HP:0003798 bodies nemaline +HP:0003798 nemaline rods +HP:0100497 b3 deficiency vitamin +HP:0030943 pain vulvar +HP:0030943 vulvodynia +HP:0010236 epiphyses hand phalanges small +HP:0010236 bones end finger part small +HP:0010236 epiphyses fingers small +HP:0010237 bones calcifications end finger part speckled +HP:0010237 epiphyses fingers stippling +HP:0010237 epiphyses hand phalanges stippling +HP:0010237 epiphyseal finger phalanges stippling +HP:0010234 epiphyses ivory phalangeal sclerotic +HP:0010234 epiphyses hand ivory phalanges +HP:0010234 bone bones density end hand increased part +HP:0010234 epiphyses fingers ivory +HP:0010235 hand phalanges pseudoepiphyses +HP:0010235 fingers pseudoepiphysis +HP:0010232 epiphyses fragmentation hand phalanges +HP:0010232 bones end finger fragmentation part +HP:0010232 epiphyses fingers fragmentation +HP:0010233 epiphyses fingers irregular +HP:0010233 epiphyses hand irregular phalanges +HP:0010233 bones end finger irregular part +HP:0010230 cone epiphyses phalangeal shaped +HP:0010230 cone epiphyses fingers shaped +HP:0010230 cone epiphyses phalanges shaped +HP:0010230 coned epiphyses hands +HP:0010230 conical epiphyses phalangeal +HP:0010230 bones cone end finger part shaped +HP:0010230 cone epiphyses hand phalanges shaped +HP:0010230 coned epiphyses +HP:0010230 cone epiphyses hand shaped +HP:0010231 enlarged epiphyses fingers +HP:0010231 bones end enlarged finger part +HP:0010231 enlarged epiphyses hand phalanges +HP:0010231 enlarged epiphyses phalangeal +HP:0005560 hemoglobin imbalanced synthesis +HP:0001227 abnormality thenar +HP:0001227 abnormality eminence thenar +HP:0005562 cysts multiple renal +HP:0005562 cysts kidney multiple +HP:0005563 oligonephronia +HP:0005563 decreased glomeruli numbers +HP:0005563 decreased nephrons numbers +HP:0005564 absence corticomedullary differentiation renal +HP:0005564 absent corticomedullary differentiation renal +HP:0005564 corticomedullary differentiation loss +HP:0005565 corticomedullary differentiation reduced renal +HP:0005565 corticomedullary definition differentiation loss +HP:0000046 growth scrotum smaller than typical +HP:0000046 hypoplasia scrotal +HP:0000046 hypoplastic scrotum +HP:0010239 aplasia hand middle phalanx +HP:0010239 middle missing phalanges +HP:0010239 absent middle phalanges +HP:0010239 absent bones hand middle +HP:0004219 5th abnormality finger middle phalanx +HP:0004219 abnormality bone finger little middle +HP:0004219 abnormality bone finger middle pinky +HP:0004219 abnormality bone finger middle pinkie +HP:0004218 bones finger fused pinkie +HP:0004218 bones finger fused little +HP:0004218 bones finger fused pinky +HP:0004218 finger little symphalagism +HP:0004218 5th finger symphalangism +HP:0003249 genital ulcers +HP:0003248 chromosomal external for genitalia gonadal inappropriate or sex tissue +HP:0003247 external genitalia overgrowth +HP:0003530 acidemia glutarate +HP:0003530 acidemia glutaric +HP:0004213 5th abnormality finger phalanges +HP:0004213 abnormality bone finger pinkie +HP:0004213 5th abnormal finger morphology phalanx +HP:0004213 abnormality bone finger pinky +HP:0004213 abnormality bone finger little +HP:0003532 ornithinuria +HP:0003535 3 aciduria methylglutaconic +HP:0003534 activity dehydrogenase reduced xanthine +HP:0003534 deficiency dehydrogenase xanthine +HP:0003537 acid blood levels low uric +HP:0003537 hypouricemia +HP:0003536 activity decreased fumarate hydratase +HP:0001670 asymmetric hypertrophy septal +HP:0030948 activity elevated gamma glutamyltransferase +HP:0001671 defect heart septal +HP:0001671 defects septal +HP:0001671 abnormal cardiac morphology septum +HP:0001671 abnormality cardiac septa +HP:0030949 deposits glomerular +HP:0031723 esotropia sensory +HP:0031723 esotropia secondary +HP:0500064 prematurity retinopathy threshold +HP:0500064 rop threshold +HP:0031722 accomodative convergence esotropia excess non +HP:0031722 esotropia near +HP:0030243 blood clot liver vein +HP:0030243 hepatic thrombosis vein +HP:0010724 advanced mastoid pneumatization process +HP:0200006 fissure palpebral slanting +HP:0200006 between eyelids opening slanting +HP:0008708 development partial penile shaft +HP:0006106 absent bone trapezoid +HP:0000794 iga nephropathy +HP:0000794 deposition glomerulus iga +HP:0011623 4 defect septal type ventricular +HP:0011623 defect muscular septal ventricular +HP:0000795 abnormality urethra +HP:0000795 issue urethra +HP:0001678 atrioventricular block +HP:0001678 between chambers communication electrical heart interruption lower upper +HP:0001678 atrioventricular disease nodal +HP:0000064 inner lips underdeveloped +HP:0000064 hypoplastic labia minora +HP:0001679 abnormal aortic morphology +HP:0001679 abnormality aorta +HP:0001679 abnormal aorta morphology +HP:0008703 calcification gonadal +HP:0006101 partial syndactyly +HP:0006101 finger syndactyly +HP:0030248 blood clot mesentertic vein +HP:0030248 mesenteric thrombosis venous +HP:0000790 blood urine +HP:0000790 hematuria +HP:0000790 blood high occult urine +HP:0030174 increased myelin peripheral thickness +HP:0000791 acid uric urolithiasis +HP:0000791 acid nephrolithiasis uric +HP:0000791 acid stones uric +HP:0410009 abnormality nervous somatic system +HP:0410008 abnormality nervous peripheral system +HP:0000060 clitoral hypoplasia +HP:0000060 clit underdeveloped +HP:0000060 clitoris small +HP:0000060 clitoris hypoplastic +HP:0007985 artery blocked retinal +HP:0007985 arteriolar occlusion retinal +HP:0410000 defect vomer +HP:0410000 abnormality vomer +HP:0410000 abnormality bone vomer +HP:0410003 alveolar cleft maxilla process +HP:0410003 alveolar cleft +HP:0410003 cleft palate primary +HP:0410003 alveolus cleft maxillary +HP:0410003 anterior cleft maxilla +HP:0000793 glomerulonephritis membranoproliferative +HP:0000793 glomerulonephritis mesangiocapillary +HP:0410005 bony cleft palate +HP:0410005 cleft hard palate +HP:0007986 increased retinal vascularity +HP:0410007 abnormality cartilage morphology +HP:0008706 distal duplication urethral +HP:0100130 2nd epiphysis phalanx proximal small toe +HP:0100130 2nd bone end innermost part small toe +HP:0008705 triplication ureteral +HP:0007452 capillary hemangioma midface +HP:0007452 capillary hemangioma midfacial +HP:0011621 atrial communication left right ventricular +HP:0011621 defect gerbode septal ventricular +HP:0007450 depigmentation groin increased pigmentation raindrop with +HP:0010727 globe rupture spontaneous +HP:0007451 facial ipsilateral lack sweating +HP:0009821 forearm shortened +HP:0009821 forearms short +HP:0009821 bones forearm short +HP:0009821 forearm undergrowth +HP:0009821 bones forearm hypoplasia involving +HP:0009820 limb lower peromelia +HP:0009823 aplasia bones involving limbs upper +HP:0009823 absent bones limbs upper +HP:0009822 absent bones forearm +HP:0009822 aplasia bones forearm involving +HP:0002118 abnormality cerebral ventricles +HP:0000068 atresia urethral +HP:0009827 amelia +HP:0009826 limb short +HP:0009826 limb undergrowth +HP:0009826 bones extremities hypoplasia involving +HP:0009826 limb shortening +HP:0009826 limbs short +HP:0009829 phocomelia +HP:0009828 peromelia +HP:0002110 airways enlargement lungs permanent +HP:0002110 bronchiectasis +HP:0002111 deficit function on pulmonary restrictive tests +HP:0002111 respiratory restrictive syndrome +HP:0002111 insufficiency respiratory restrictive +HP:0002111 deficit function on pulmonary restrictive testing +HP:0002111 disease respiratory restrictive +HP:0002113 infiltrates pulmonary +HP:0002113 infiltrates lung +HP:0002113 infiltration pulmonic +HP:0410144 abnormal activity biotinidase +HP:0410145 activity biotinidase decreased +HP:0410146 activity biotinidase increased +HP:0410147 eosinophilic infiltration mucosa stomach +HP:0410147 eosinophilic gastritis +HP:0012649 increased inflammatory response +HP:0012648 decreased inflammatory response +HP:0011256 antihelix connected crus helix to +HP:0012645 enlarged nerves peripheral +HP:0012645 enlarged nerve peripheral +HP:0012644 caudate increased lactate level +HP:0012647 abnormal inflammatory response +HP:0012646 retractile testicle +HP:0012646 retractile testis +HP:0012641 decreased intracranial pressure +HP:0012641 hypotension intracranial +HP:0004499 airway chronic due inflammation narrow nasal to +HP:0004499 airway chronic due narrow nasal rhinitis to +HP:0012643 foveal hypopigmentation +HP:0012642 agenesis cerebellar +HP:0007544 piebaldism +HP:0007097 cranial loss motor nerve +HP:0007546 hyperpigmentation linear +HP:0011254 2 cryptotia type +HP:0011254 cryptotia ii type +HP:0007541 cutaneous frontal lipoma +HP:0007542 absent chest pigmentation ventral +HP:0007543 epidermal hyperkeratosis +HP:0007543 epidermis increased skin thickness +HP:0100780 conjunctival hamartoma +HP:0001873 thrombocytopenia +HP:0001873 count low platelet +HP:0007548 erythema keratosis palmoplantar scale with +HP:0007549 after birth desquamation skin soon +HP:0007098 choreoathetosis episodic +HP:0007098 choreoathetosis intermittent +HP:0007098 choreoathetosis paroxysmal +HP:0011252 buried ear +HP:0011252 cryptotia +HP:0011252 ear hidden +HP:0009799 extra spleen +HP:0009799 spleens supernumerary +HP:0009798 euthyroid goiter +HP:0010721 abnormal hair whorl +HP:0010721 abnormal hair whorls +HP:0009793 retrorectal teratoma +HP:0009793 altman iv sacrococcygeal teratoma type +HP:0009793 presacral teratoma +HP:0009792 teratoma +HP:0009791 bifid sacrum +HP:0011250 antitragus double +HP:0011250 antitragus bifid +HP:0009797 cholesteatoma +HP:0009796 branchial cleft cyst +HP:0009796 branchial cyst +HP:0009796 branchial cysts +HP:0009795 branchial fistula +HP:0009795 branchial cleft fistula +HP:0009794 abnormality arch branchial +HP:0009794 anomaly branchial +HP:0009794 abnormality apparatus branchial +HP:0009794 anomalies branchial +HP:0009794 abnormality branchial +HP:0030106 absent beta fiber muscle sarcoglycan +HP:0030107 beta fiber muscle reduced sarcoglycan +HP:0030104 abnormal fiber gamma muscle sarcoglycan +HP:0030105 abnormal delta fiber muscle sarcoglycan +HP:0030102 alpha fiber muscle reduced sarcoglycan +HP:0030103 abnormal beta fiber muscle sarcoglycan +HP:0007898 exudative retinopathy +HP:0007899 nonattachment retinal +HP:0007899 attachment non retinal +HP:0007321 deep hypodensities matter white +HP:0007321 cerebral deep hypodensities matter white +HP:0007894 fundus hypopigmentation +HP:0007894 decreased fundus pigmentation +HP:0008723 dysgenesis female gonadal xy +HP:0008723 appearance dysgenesis female gonadal male with +HP:0007892 hypoplastic lacrimal puncta +HP:0007892 hypoplasia lacrimal puncta +HP:0007892 hypoplasia lacrimal punctum +HP:0007325 dystonia generalized +HP:0007326 choreoathetosis progressive +HP:0004496 atresia choanal posterior +HP:0100065 3rd bone end part toe triangular +HP:0100065 3rd epiphyses toe triangular +HP:0100064 3rd epiphyses stippling toe +HP:0100064 3rd bone calcifications end part speckled toe +HP:0100067 4th bone bracket end part shaped toe +HP:0100067 4th bracket epiphyses toe +HP:0100066 4th absent bone end part toe +HP:0100066 4th absent epiphyses toe +HP:0100061 3rd epiphyses ivory toe +HP:0100061 3rd bone density end increased part toe +HP:0011259 crus expanded helix portion terminal +HP:0100063 3rd bone end part small toe +HP:0100063 3rd epiphyses small toe +HP:0100062 3rd pseudoepiphyses toe +HP:0100069 4th enlarged epiphyses toe +HP:0100069 4th bone end enlarged part toe +HP:0100068 4th bone cone end part shaped toe +HP:0100068 4th cone epiphyses shaped toe +HP:0008722 diverticulum urethral +HP:0001491 cfeom +HP:0001491 ophthalmoplegia +HP:0001491 extraocular fibrosis muscles +HP:0001492 anomaly axenfeld +HP:0001493 falciform fold retinal +HP:0001493 fold retinal +HP:0001495 carpal osteolysis +HP:0001495 bone carpal osteolysis +HP:0001498 bones carpal small +HP:0001498 carpals small +HP:0001498 bone carpal hypoplasia +HP:0001498 bones small wrist +HP:0001498 bones carpal hypoplastic +HP:0001498 bones carpal hypoplasia +HP:0020037 astasia +HP:0020036 dysmetria limb upper +HP:0020035 dysmetria limb lower +HP:0020038 dolichoectasia vertebrobasilar +HP:0025023 atresia rectum +HP:0025023 atresia rectal +HP:0025022 decreased erythrocyte rate sedimentation +HP:0025022 esr low +HP:0006949 episodic neuropathy peripheral +HP:0025020 antigen elevated level prostate specific +HP:0025027 cutaneous osteosis +HP:0025027 osteomatosis +HP:0025027 miliary osteoma +HP:0025027 cutis osteoma +HP:0025026 fistula h rectovestibular type +HP:0025025 fistula vestibular +HP:0025025 fistula rectovestibular +HP:0025024 megarectum +HP:0006943 diffuse leukoencephalopathy spongiform +HP:0025029 abnormality enteric morphology neuron +HP:0025028 abnormality enteric morphology nervous system +HP:0006946 meningitis recurrent +HP:0006944 abolished sense vibration +HP:0030577 0 9 acuity logmar pinhole visual +HP:0030576 0 8 acuity logmar pinhole visual +HP:0030575 0 7 acuity logmar pinhole visual +HP:0030574 0 6 acuity logmar pinhole visual +HP:0030573 0 5 acuity logmar pinhole visual +HP:0030572 0 4 acuity logmar pinhole visual +HP:0030571 0 3 acuity logmar pinhole visual +HP:0030570 0 2 acuity logmar pinhole visual +HP:0030579 1 acuity logmar pinhole visual +HP:0030578 0 1 acuity logmar pinhole visual +HP:0005028 bone innermost portion shinbone wide +HP:0005028 metaphyses proximal tibial widened +HP:0005028 bone innermost portion shankbone wide +HP:0005025 distal humeri hypoplastic +HP:0001582 loose redundant skin +HP:0001582 redundant sagging skin +HP:0001582 redundant skin +HP:0001582 folds redundant skin +HP:0005026 limb mesomelic rhizomelic shortening +HP:0005021 bilateral dislocations elbow +HP:0005021 both dislocated elbows on sides +HP:0006118 all distal fingers phalanges shortening +HP:0006118 all bones fingers outermost shortening +HP:0006118 brachytelephalangy +HP:0006059 bone cone end long part shaped +HP:0006059 cone epiphyses metacarpal shaped +HP:0001580 adrenocortical disease micronodular pigmented +HP:0006051 metacarpal periosteal thickening +HP:0011506 choroidal neovascularization +HP:0006055 club deviated hands ulnar +HP:0008726 hypoplastic vagina +HP:0008726 hypoplasia vagina +HP:0008726 rudimentary vagina +HP:0008726 underdeveloped vagina +HP:0010245 abnormality epiphyses hand phalanges proximal +HP:0010245 abnormality bones end hand innermost part +HP:0010009 1st abnormality bone hand long +HP:0010009 1st abnormality metacarpal +HP:0010008 duplication hand middle phalanx +HP:0010008 bones duplication hand middle +HP:0010008 complete duplication hand middle partial phalanges +HP:0010728 absent retina +HP:0010728 aplasia retina +HP:0010005 duplication hand middle partial phalanges +HP:0010005 bones duplication hand middle partial +HP:0010004 distal duplication hand partial phalanges +HP:0010004 bifid hand phalanges terminal +HP:0010004 bone duplication hand outermost partial +HP:0010006 complete duplication hand partial phalanges proximal +HP:0010006 bones duplication hand innermost +HP:0010006 duplication hand phalanx proximal +HP:0010001 bones complete duplication hand outermost +HP:0010001 complete distal duplication hand phalanges +HP:0010000 complete duplication hand phalanges proximal +HP:0010000 bones complete duplication hand innermost +HP:0010003 bones duplication hand innermost partial +HP:0010003 duplication hand partial phalanges proximal +HP:0010002 complete duplication hand middle phalanges +HP:0010002 bones complete duplication hand middle +HP:0005793 all distal phalanges shortening toes +HP:0005793 all bone outermost shortening toes +HP:0005792 humerus short +HP:0005792 humerus hypoplastic +HP:0005792 humeri short +HP:0005792 humeral shortening +HP:0005792 humeral hypoplasia +HP:0005792 arm bone long short upper +HP:0005792 arms short upper +HP:0005791 bone cortical diaphyses long thickening +HP:0005790 condylar head mandible short +HP:0005790 condylar decreased length mandible process +HP:0005790 condylar mandible neck short +HP:0005790 condyles mandibular short +HP:0005790 bilateral condylar hypoplasia mandibular neck +HP:0005790 bilateral condylar head hypoplasia mandibular +HP:0005790 condylar mandible process short +HP:0005790 bilateral condylar hypoplasia mandible process +HP:0005790 condylar decreased height mandible process +HP:0005798 dislocation head posterior radial +HP:0010729 cherry macular red spot +HP:0010729 cherry macula red spot +HP:3000004 abnormality belly frontalis muscle +HP:0100636 paraglioma pulmonary +HP:0430006 cilia ectopic eyelid +HP:0031224 diffuse hyperplasia islet pancreatic +HP:0031225 intrapulmonary shunt +HP:0031225 intrapulmonary shunting +HP:0031226 collection fluid perinephric +HP:0031227 nasopharyngeal teratoma +HP:0031220 increased iodine radioactive uptake +HP:0031221 abnormal iodine radioactive result test uptake +HP:0031222 binding circulating globulin increased level thyroxine +HP:0031223 focal hyperplasia islet pancreatic +HP:0031228 abnormal incisura morphology +HP:0031229 incisura increased length +HP:0004771 body graying hair premature +HP:0004779 brittle hair scalp +HP:0031188 edema genital +HP:0031188 genital oedema +HP:0025522 chordae elongated mitral tendinae valve +HP:0025523 abnormal chordae mitral morphology tendinae valve +HP:0006640 fractures multiple rib +HP:0025520 calcinosis cutis +HP:0025520 calcification cutaneous +HP:0000453 cavity nasal obstruction opening rear +HP:0000453 atresia choanal +HP:0000453 blockage cavity nasal opening rear +HP:0000452 choanal stenosis +HP:0000452 coanal stenosis +HP:0000452 cavity narrowing nasal opening rear +HP:0000451 nasal tip triangular +HP:0000451 nose shaped tip triangular +HP:0025521 body fat increased percentage +HP:0000457 depressed dorsum nose +HP:0000457 dorsum nose retruded +HP:0000457 dorsum nasal retruded +HP:0000457 dorsum nasal recessed +HP:0000457 depressed dorsum nasal +HP:0000457 dorsum flat nose +HP:0000457 depressed nasal ridge +HP:0000457 dorsum nose recessed +HP:0000457 nasal retruded ridge +HP:0000457 dorsum flat nasal +HP:0000457 flat nose +HP:0000457 nasal recessed ridge +HP:0000456 bifid nose tip +HP:0000456 cleft nose tip +HP:0000456 nose notched tip +HP:0000456 bifid nasal tip +HP:0000456 cleft nasal tip +HP:0000456 nasal notched tip +HP:0000455 increased nose tip width +HP:0000455 nasal tip wide +HP:0000455 breadth increased nose tip +HP:0000455 broad nose tip +HP:0000455 nose tip wide +HP:0000455 broad nasal tip +HP:0000455 broad nose upturned +HP:0000455 increased nasal tip width +HP:0000455 breadth increased nasal tip +HP:0000454 flared nostrils +HP:0000454 alae flared nasal +HP:0000458 anosmia +HP:0000458 lost smell +HP:0100663 synotia +HP:0100662 chondritis +HP:0100662 cartilage inflammation +HP:0100661 neuralgia trigeminal +HP:0100661 douloureux tic +HP:0100660 dyskinesias +HP:0100660 dyskinesis +HP:0100660 dyskinesia +HP:0008202 deficiency prolactin +HP:0011357 abnormality density hair +HP:0011354 abnormality generalised skin +HP:0011354 abnormality generalized skin +HP:0011355 lesion localized skin +HP:0011608 arteriosus ii truncus type +HP:0011608 arteriosus ii persistent truncus type +HP:0011608 2 arteriosus truncus type +HP:0011609 arteriosus iii truncus type +HP:0011609 arteriosus iii persistent truncus type +HP:0011609 3 arteriosus truncus type +HP:0011358 generalized hair hypopigmentation +HP:0100668 duplication intestinal +HP:0100668 duplication gut +HP:0100668 bowel duplication +HP:0008208 hyperplasia parathyroid +HP:0008208 enlarged glands parathyroid +HP:0008209 climacterium praecox +HP:0008209 early menopause +HP:0008209 amenorrhea hypergonadotropic +HP:0008209 menopause praecox +HP:0008209 insufficiency ovarian premature +HP:0008209 menopause premature +HP:0008209 insufficiency ovarian primary +HP:0008209 failure ovarian premature +HP:0009077 extensor finger long muscles weakness +HP:0009072 achilles decreased reflex +HP:0009072 ankle at hyporeflexia joints +HP:0009073 muscle progressive proximal weakness +HP:0004510 cell hyperplasia islet pancreatic +HP:0004510 hyperplasia islet langerhans +HP:0004510 hypertrophic islets pancreatic +HP:0004510 hypertrophy islets langerhans +HP:0004510 hyperplastic islets langerhans +HP:0004510 cell hypertrophy islet pancreatic +HP:0009071 inflammatory myopathy +HP:0010913 blood concentration high isoleucine +HP:0010913 hyperisoleucinemia +HP:0010912 abnormality isoleucine metabolism +HP:0010911 blood concentration high leucine +HP:0010911 hyperleucinemia +HP:0010910 hypervalinemia +HP:0010910 blood concentration high valine +HP:0010917 abnormality metabolism tyrosine +HP:0010916 abnormality alanine metabolism +HP:0010916 abnormal alanine circulating concentration +HP:0010915 abnormality acid amino family metabolism pyruvate +HP:0010915 abnormal acid amino circulating concentration family pyruvate +HP:0006642 centers large ossification sternal +HP:0010919 abnormality homocysteine metabolism +HP:0010918 abnormality cysteine metabolism +HP:0006643 centers fused ossification sternal +HP:0007709 band corneal dystrophy shaped +HP:0030379 abnormal b cells proportion transitional +HP:0030378 b cells decreased immature proportion +HP:0030378 b cd19 cd21low cells decreased proportion +HP:0008258 adrenal hyperplasia +HP:0030375 b cells increased memory proportion +HP:0030374 b cells decreased memory proportion +HP:0030377 b cd19 cd21low cells increased proportion +HP:0030377 b cells immature increased proportion +HP:0030376 abnormal b cd19 cd21low cells proportion +HP:0030376 abnormal b cells immature proportion +HP:0030371 b cells increased naive proportion +HP:0030370 abnormal b cells naive proportion +HP:0030373 abnormal b cells memory proportion +HP:0030372 b cells decreased naive proportion +HP:0100270 abnormality dorsoventral limbs patterning +HP:0100271 hyponasal speech +HP:0100272 branchial sinus +HP:0100273 colon neoplasm +HP:0100273 colon tumor +HP:0100274 gustatory lacrimation +HP:0100275 atrophy cerebellar diffuse +HP:0100276 pits skin +HP:0100276 pit skin +HP:0008670 partial septum vaginal +HP:0100279 colitis ulcerative +HP:0100279 colitis ulcerosa +HP:0007159 consciousness fluctuations +HP:0007158 extrapyramidal progressive rigidity +HP:0007158 extrapyramidal muscular progressive rigidity +HP:0030290 sacrum unossified +HP:0030290 absence ossification sacrum +HP:0008251 goiter +HP:0002329 drowsiness +HP:0002329 sleepy +HP:0011652 committed defect double doubly outlet right septal ventricle ventricular +HP:0011652 committed defect double doubly outlet pulmonary right septal stenosis ventricle ventricular with without +HP:0011652 committed dorv doubly vsd with +HP:0002323 anencephaly +HP:0000407 deafness sensorineural +HP:0000407 hearing impairment sensorineural +HP:0000407 hearing loss sensorineural +HP:0002321 dizziness +HP:0002321 vertigo +HP:0002321 dizzy spell +HP:0002326 mini stroke +HP:0002326 attacks ischemic transient +HP:0002326 attack ischemic transient +HP:0002324 hydranencephaly +HP:0002324 hydrancephaly +HP:0012186 at elbow entrapment nerve neuropathy ulnar +HP:0012187 concentration erythrocyte increased protoporphyrin +HP:0012184 cholesterol concentration hdl increased +HP:0012184 hyperalphalipoproteinemia +HP:0012184 blood hdl high level +HP:0012184 circulating density high increased levels lipoprotein +HP:0012185 constrictive median neuropathy +HP:0012185 carpal syndrome tunnel +HP:0012182 carcinoma cell oropharyngeal squamous +HP:0012183 colonic hyperplastic polyposis +HP:0012180 arterial cystic medial necrosis +HP:0012180 cystic medial necrosis +HP:0012181 entrapment neuropathy +HP:0100656 schisis thoracoabdominal +HP:0100656 defect thoracoabdominal wall +HP:0012188 gravidarum hyperemesis +HP:0012189 disease hodgkin +HP:0012189 hodgkin lymphoma s +HP:0012189 hodgkin lymphoma +HP:0011655 defect double outlet pulmonary right septal stenosis subaortic ventricle ventricular with +HP:0011655 dorv pulmonary stenosis subaortic vsd with +HP:0005807 absent distal phalanges +HP:0005807 absent bones digital outermost +HP:0008256 adenoma adrenocortical +HP:0008256 adenomas adrenocortical +HP:0005802 bones coalescence tarsal +HP:0010056 abnormality big bone end part toe +HP:0010056 abnormality epiphyses hallux +HP:0009028 generalized limb muscles weakness +HP:0006520 function impairment progressive pulmonary +HP:0010706 1st 3rd finger webbed +HP:0010706 1 3 finger syndactyly +HP:0004464 pit postauricular +HP:0004464 behind ear pit +HP:0004464 auricular posterior sinus +HP:0004464 fistula postauricular +HP:0004464 auricular pit posterior +HP:0004464 earpits postauricular +HP:0010707 1 4 finger syndactyly +HP:0010707 1st 4th finger webbed +HP:0004019 irregular metaphysis radial +HP:0004019 irregularity metaphyseal radial +HP:0100938 bone density increased middle pinkie toe +HP:0100938 bone density increased middle pinky toe +HP:0100938 bone density increased little middle toe +HP:0100938 5th middle phalanx sclerosis toe +HP:0004018 broadening distal radius +HP:0004018 flared metaphysis radial +HP:0011424 increased serum zinc +HP:0011424 hyperzincemia +HP:0031422 abnormal cerebellar cortex morphology +HP:0031423 cerebellar cortex small +HP:0031420 retinopathy solar +HP:0031420 induced laser maculopathy pointer +HP:0031420 induced light retinopathy +HP:0031420 photic retinopathy +HP:0031420 foveal grey lesion small surrounding with yellow zone +HP:0031420 retinitis solar +HP:0031420 induced laser pointer retinopathy +HP:0031421 cortex frontal small superior +HP:0031426 beta circulating ctx decreased level +HP:0031426 beta c circulating decreased level telopeptide terminal +HP:0031426 beta circulating crosslaps decreased level +HP:0031427 abnormal circulating level osteocalcin +HP:0031424 abnormal beta circulating ctx level +HP:0031424 abnormal beta circulating crosslaps level +HP:0031424 abnormal beta c circulating level telopeptide terminal +HP:0003044 contracture flexion shoulder +HP:0031428 circulating increased level osteocalcin +HP:0031429 circulating decreased level osteocalcin +HP:0010708 1 5 finger syndactyly +HP:0010708 1st 5th fingers webbed +HP:0008747 cartilaginous larynx ossification +HP:0006205 irregular phalanges +HP:0006205 bones finger irregular +HP:0006206 finger hypersegmentation phalanx proximal second +HP:0006207 carpals fusion partial +HP:0006200 distal phalanges widened +HP:0006200 bone limb outermost widened +HP:0006201 hinge increased joint mobility outermost +HP:0006201 distal hypermobility interphalangeal joints +HP:0006202 osteolysis scaphoids +HP:0006203 decreased interphalangeal joints movement range +HP:0006203 decreased hinge joints movement range +HP:0004013 epiphyseal fused medially plates radial +HP:0011425 fetal marker soft ultrasound +HP:0006208 cupping metaphyseal phalanges proximal +HP:0006209 5th absence complete partial phalanges +HP:0006209 5th absence bone complete digital partial +HP:0004544 frontal hairline pointed +HP:0004544 at front hairline head pointed +HP:0003043 abnormality shoulder +HP:0005172 block fascicular left posterior +HP:0005172 hemiblock left posterior +HP:0004010 epiphyses radial small +HP:0004276 bones exostoses hand +HP:0004240 bones spots stiffened within wrist +HP:0004240 bones carpal foci sclerotic within +HP:0004240 bones hardened spots within wrist +HP:0011426 choroid cysts fetal plexus +HP:0002310 dyskinesia orofacial +HP:0002310 dyskinesias orofacial +HP:0002311 coordination difficulties +HP:0002311 incoordination limb movements +HP:0002311 incoordination +HP:0002311 incoordination limb +HP:0200095 anterior bite open +HP:0200094 bite frontal open +HP:0200097 blisters mucosal oral +HP:0200097 bullae mucosa oral +HP:0200097 blisters mouth +HP:0200097 blisters mucosa oral +HP:0200097 blebs mucosa oral +HP:0200096 mouth open shaped triangular +HP:0200098 absent pigmentation skin +HP:0200098 coloration lack skin +HP:0009678 bone end enlarged long outermost part thumb +HP:0009678 distal enlarged epiphysis phalanx thumb +HP:0009678 epiphysis large phalanx terminal thumb +HP:0009679 bone end fragmentation long outermost part thumb +HP:0009679 distal epiphysis fragmentation phalanx thumb +HP:0011427 cisterna enlarged fetal magna +HP:0009674 epiphysis phalanx proximal thumb triangular +HP:0009674 bone end innermost long part thumb triangular +HP:0009675 absent bone end long outermost part thumb +HP:0009675 absent distal epiphysis phalanx thumb +HP:0009676 bone bracket end long outermost part shaped thumb +HP:0009676 bracket distal epiphysis phalanx thumb +HP:0009677 cone epiphysis phalanx shaped terminal thumb +HP:0009677 cone distal epiphysis phalanx shaped thumb +HP:0009677 bone cone end long outermost part shaped thumb +HP:0009670 bone density end increased innermost part thumb +HP:0009670 epiphysis ivory phalanx proximal thumb +HP:0009671 phalanx proximal pseudoepiphysis thumb +HP:0009672 epiphysis phalanx proximal small thumb +HP:0009672 bone end innermost long part small thumb +HP:0009673 epiphysis phalanx proximal stippling thumb +HP:0009673 bone calcifications end innermost long part speckled thumb +HP:0012458 arteries calcification medial small +HP:0012459 alarm clock headache +HP:0012459 headache hypnic +HP:0012328 cementoma +HP:0012329 angioblastoma +HP:0012329 hemangioma hypertrophic +HP:0012329 angioblastoma nakagawa +HP:0012329 hemangioma tufted +HP:0012329 capillary hemangioma progressive +HP:0012329 angioma tufted +HP:0012322 inflammation perifollicular +HP:0012322 perifolliculitis +HP:0012323 myoclonus sleep +HP:0012320 absent limbs pigmentation +HP:0012453 bilateral contracture flexion wrist +HP:0012453 bilateral contracture wrist +HP:0012326 abnormal artery celiac morphology +HP:0012326 abnormality artery celiac +HP:0012327 axis celiac syndrome +HP:0012327 dunbar syndrome +HP:0012327 artery celiac compression +HP:0012327 arcuate ligament median syndrome +HP:0012324 leukemia myeloid +HP:0001459 1st 3rd toes webbed +HP:0001459 1 3 syndactyly toe +HP:0012348 decreased galactosylation glycosylation linked n protein +HP:0012349 abnormal glycosylation linked n protein sialylation +HP:0009824 arms short +HP:0009824 limb undergrowth upper +HP:0009824 bones hypoplasia involving limbs upper +HP:0009824 arms shortening +HP:0001009 telangiectases +HP:0001009 cutaneous telangiectasia +HP:0001009 telangiectasia +HP:0001009 spider veins +HP:0001008 accumulation melanocytes melanosomes +HP:0031590 asthenopia +HP:0031590 eye strain +HP:0003264 1 acetylglucosamine deficiency n phosphotransferase +HP:0001003 liver spots +HP:0001003 lentigines multiple +HP:0001001 abnormality below fatty skin tissue +HP:0001001 abnormality fat subcutaneous tissue +HP:0001000 changes pigmentary skin +HP:0001000 abnormal pigmentation +HP:0001000 changes pigmentary +HP:0001000 abnormal color skin +HP:0001000 abnormality pigmentation skin +HP:0001000 abnormal pigmentation skin +HP:0001000 anomaly pigmentation +HP:0001000 abnormality pigmentation +HP:0001007 excessive hairiness +HP:0001007 hirsutism +HP:0001006 birth hair since sparse +HP:0001006 hypotrichosis marked +HP:0001006 body decreased growth hair on +HP:0001006 hypotrichosis infantile +HP:0001006 hypotrichosis +HP:0001005 dermatological disorders manifestations systemic +HP:0001004 around lymphedema onset puberty +HP:0001004 lymphatic obstruction +HP:0001004 lymphoedema +HP:0001004 lymphedema +HP:0001004 by caused excess fluid lymph skin swelling under +HP:0012340 decreased energy expenditure resting +HP:0012341 microprolactinoma +HP:0012342 macroprolactinoma +HP:0012343 ferritin level low +HP:0012343 decreased ferritin plasma +HP:0012343 ferritin reduced serum +HP:0012343 decreased ferritin serum +HP:0008079 aplasia bone fifth metatarsal +HP:0008079 absent fifth metatarsal +HP:0008079 5th absent bone foot long +HP:0008079 5th absent metatarsals +HP:0008078 cortices metatarsal thin +HP:0100878 enlarged uterus +HP:0001859 distal foot symphalangism +HP:0008075 cavus pes progressive +HP:0008074 metatarsal periosteal thickening +HP:0100874 hair thick +HP:0100874 density follicular increased +HP:0100874 density hair increased +HP:0008076 osteoporotic tarsals +HP:0008071 hypertension maternal +HP:0008070 hair sparse thin +HP:0008070 hair sparse +HP:0008073 estriol low maternal serum +HP:0008072 maternal pregnancy virilization +HP:0500173 anoxic reflex seizures +HP:0500173 anoxic reflex seizure +HP:0500173 asystolic reflex syncope +HP:0000502 abnormal conjunctiva morphology +HP:0009249 abnormality bone end finger outermost part ring +HP:0009249 4th abnormality distal epiphysis finger phalanx +HP:0009248 abnormality bone end finger innermost part ring +HP:0009248 4th abnormality epiphysis finger phalanx proximal +HP:0009245 bone finger outermost pinky shaped triangular +HP:0009245 5th distal finger phalanx shaped triangular +HP:0009245 bone finger little outermost shaped triangular +HP:0009245 bone finger outermost pinkie shaped triangular +HP:0009244 distal fifth finger interphalangeal joint symphalangism +HP:0009244 5th distal finger middle phalanges symphalangism +HP:0009244 5th finger fusion middle phalanges terminal +HP:0009244 bones end finger fused little middle +HP:0009244 5th finger middle phalanges symphalangism terminal +HP:0009244 5th distal finger middle symphalangism +HP:0009244 bones end finger fused middle pinky +HP:0009244 bones end finger fused middle pinkie +HP:0009247 abnormality bone end finger middle part ring +HP:0009247 4th abnormality epiphysis finger middle phalanx +HP:0009246 absent bone finger little outermost +HP:0009246 5th aplasia distal finger phalanx +HP:0009246 absent bone finger outermost pinky +HP:0009246 absent bone finger outermost pinkie +HP:0009241 bone bullet finger outermost pinkie shaped +HP:0009241 bone bullet finger little outermost shaped +HP:0009241 5th bullet distal finger phalanx shaped +HP:0009241 bone bullet finger outermost pinky shaped +HP:0009240 bone finger outermost pinky wide +HP:0009240 5th broad distal finger phalanx +HP:0009240 bone broad finger outermost pinkie +HP:0009240 bone broad finger outermost pinky +HP:0009240 bone broad finger little outermost +HP:0009243 bone density finger increase outermost pinky uneven +HP:0009243 bone density finger increase outermost pinkie uneven +HP:0009243 bone density finger increase little outermost uneven +HP:0009243 5th distal finger patchy phalanx sclerosis +HP:0000504 abnormality vision +HP:0000504 issue vision +HP:0000504 abnormality sight +HP:0001269 body one side weakness +HP:0001269 hemiparesis +HP:0001268 deterioration mental +HP:0001268 cognitive decline +HP:0001268 deterioration intellectual +HP:0001268 cognitive decline progressive +HP:0000066 hypoplastic labia +HP:0000066 hypoplasia labial +HP:0000066 labia underdeveloped +HP:0001266 choreoathetosis +HP:0001266 choreoathetoid movements +HP:0030904 myerson s sign +HP:0030904 glabellar reflex +HP:0001264 diplegia spastic +HP:0001263 cognitive delayed development +HP:0001263 development mental retarded +HP:0001263 developmental retardation +HP:0001263 cognitive delay +HP:0001263 development psychomotor retarded +HP:0001263 delay developmental global +HP:0001263 delayed development intellectual +HP:0001263 delayed development +HP:0001263 delay developmental motor +HP:0001263 delayed milestones +HP:0001263 deficiency development psychomotor +HP:0001263 delayed development psychomotor +HP:0001263 childhood delay developmental early +HP:0001263 delay psychomotor +HP:0001263 delayed developmental milestones +HP:0001263 delay developmental +HP:0001263 development lack psychomotor +HP:0001263 mental motor retardation +HP:0001263 delay developmental psychomotor +HP:0001263 development retarded +HP:0001263 development failure psychomotor +HP:0001262 daytime excessive somnolence +HP:0030900 foot itchy +HP:0030900 foot on pruritus +HP:0030900 feet itchy +HP:0001260 dysarthric speech +HP:0001260 articulating difficulty speech +HP:0001260 dysarthria +HP:0001850 abnormality bones tarsal +HP:0001850 abnormal ankle bones +HP:0001850 abnormal tarsals +HP:0008967 exercise induced muscle stiffness +HP:0008967 exercise muscle stiffness with +HP:0000067 atresia female urethral +HP:0008964 atrophy muscular nonprogressive +HP:0040048 aplasia hemidiaphragm left +HP:0040049 macular oedema +HP:0040049 edema macular +HP:0040044 diaphragm underdeveloped +HP:0040044 diaphragm hypoplasia +HP:0040045 abnormality hemidiaphragms +HP:0040046 abnormality hemidiaphragm left +HP:0040047 abnormality hemidiaphragm right +HP:0040040 detachment toenails +HP:0040040 onycholysis toenails +HP:0008969 leg muscle stiffness +HP:0040042 absent eccrine glands sweat +HP:0040042 aplasia eccrine glands sweat +HP:0040043 eccrine glands hypoplasia sweat +HP:0040043 glands major sweat underdeveloped +HP:0010624 absent small toenails +HP:0010624 aplastic hypoplastic toenail +HP:0010624 absent hypoplastic toenails +HP:0010624 absent toenails underdeveloped +HP:0010624 aplastic hypoplastic toenails +HP:0008968 extremities hypertrophy lower muscle +HP:0008554 cochlear malformation +HP:0011036 abnormality excretion renal +HP:0000206 glossitis +HP:0000206 inflammation tongue +HP:0000206 smooth swollen tongue +HP:0000206 inflammation lingual +HP:0003810 distal late muscle onset weakness +HP:0000204 cleft lip upper +HP:0000204 cheiloschisis lip upper +HP:0000204 harelip +HP:0000205 closed lips tightly +HP:0000205 lips pursed +HP:0000202 clefting oral +HP:0000202 cleft lip palate +HP:0000202 cleft oral +HP:0000202 cleft mouth +HP:0000200 frenulum lingual short +HP:0000200 frenum short tongue +HP:0000200 deficiency frenulum lingual +HP:0000200 frenulum hypoplasia lingual +HP:0000200 frenulum hypoplasia tongue +HP:0000200 frenum lingual short +HP:0000200 frenulum lingual tight +HP:0000200 frenum hypoplasia lingual +HP:0000200 frenulum short tongue +HP:0000200 frenum hypoplasia tongue +HP:0000201 robin sequence +HP:0000201 malformation pierre robin +HP:0000201 anomaly pierre robin +HP:0000201 deformity pierre robin +HP:0000201 pierre robin sequence +HP:0004188 abnormality finger ring +HP:0004188 4th abnormal finger morphology +HP:0004188 4th abnormality finger +HP:0002795 problem respiratory +HP:0002795 abnormality functional respiratory +HP:0002795 abnormal respiration +HP:0004180 distal finger phalanx short third +HP:0004180 3rd distal finger phalanx short +HP:0004180 finger middle phalanx short terminal +HP:0004180 bone finger middle outermost short +HP:0004180 3rd distal finger hypoplastic phalanx small +HP:0001919 acute failure renal +HP:0001919 acute failure kidney +HP:0001919 acute injury kidney +HP:0008848 moderately short stature +HP:0008848 moderate short stature +HP:0001911 abnormality granulocytes +HP:0001911 abnormality neutrophil +HP:0001911 abnormal granulocyte morphology +HP:0001913 granulocytopenia +HP:0001912 abnormal basophil morphology +HP:0001912 abnormality basophils +HP:0001915 anemia aplastic +HP:0010111 big bone short toe +HP:0010111 hallux hypoplastic phalanges +HP:0010111 hallux phalanx short +HP:0001917 amyloidosis renal +HP:0000062 genitalia intersex +HP:0000062 ambiguous external genitalia +HP:0000062 ambiguous genitalia +HP:0000062 ambiguous at birth external genitalia +HP:0010219 deformity foot structural +HP:0010748 abnormal lacrimal position punctum +HP:0010748 ectopic lacrimal punctum +HP:0010749 eyelid saggy skin upper +HP:0010749 blepharochalasis +HP:0010210 phalanges proximal shaped toes triangular +HP:0010210 bones innermost shaped toe triangular +HP:0010211 bones duplication innermost toe +HP:0010211 duplication phalanx proximal toe +HP:0010211 complete duplication partial phalanges proximal toes +HP:0010744 aplasia bones metatarsal +HP:0010744 absent bone foot long +HP:0010744 absent bone metatarsal +HP:0010745 aphalangia toes +HP:0010745 absent bones toes +HP:0010745 aplasia phalanges toes +HP:0010214 contracture hallux interphalangeal joint +HP:0010215 contractures hallux joint metatarsophalangeal +HP:0010740 osteopathia striata +HP:0010741 edema limbs lower +HP:0010741 edema leg +HP:0010741 edema extremity lower peripheral +HP:0010741 accumulation fluid limbs lower +HP:0005583 basement disintegration membrane tubular +HP:0005580 duplication pelvis renal +HP:0005586 areas exposed hyperpigmentation sun +HP:0005586 areas exposed hyperpigmentation +HP:0005586 areas exposed increased pigmentation sun +HP:0005587 lesions pigmented profuse skin +HP:0005584 carcinoma renal +HP:0005584 carcinoma cell renal +HP:0005584 cancer kidneys small starting tubes +HP:0005584 hypernephroma +HP:0005585 hyperpigmentation patchy +HP:0005585 increased pigmentation spotty +HP:0005585 hyperpigmentation spotty +HP:0005585 depigmentation patchy +HP:0005588 keratoderma palmoplantar patchy +HP:0000063 fused labia minora +HP:0000063 fused inner lips +HP:0003513 calcium clearance creatinine ratio reduced renal to +HP:0004232 accessory bones carpal +HP:0004232 bones extra wrist +HP:0004232 bones carpal supernumerary +HP:0004231 absent bone carpal +HP:0004231 absent bones carpal +HP:0004231 bone missing wrist +HP:0004231 aplasia bone carpal +HP:0004231 absent carpal center ossification +HP:0004231 absent bone wrist +HP:0004231 aplastic bone carpal +HP:0003510 dwarfism proportionate +HP:0003510 extreme short stature +HP:0003510 dwarfism +HP:0003510 severe short stature +HP:0004237 bones large wrist +HP:0004237 carpals large +HP:0004237 bones carpal large +HP:0004236 bones irregular wrist +HP:0004236 bones carpal irregular +HP:0004235 bones carpal comma shaped +HP:0004235 bones comma shaped wrist +HP:0004234 a appearance bone bones carpal +HP:0004234 a appearance bone bones wrist +HP:0004239 bones carpal placed proximally +HP:0004238 bones carpal defects lytic +HP:0500065 prematurity prethreshold retinopathy +HP:0500065 prethreshold rop +HP:0012656 csf dopamine level reduced +HP:0008922 childhood disproportionate identifiable short stature trunk +HP:0008922 childhood onset short stature trunk +HP:0008922 childhood during dwarfism identifiable short trunk +HP:0003610 fibroblast metachromasia +HP:0031080 abnormal glucagon response stimulation test to +HP:0005356 complement decreased factor i serum +HP:0000061 ambiguous due genitalia to virilization +HP:0000061 ambiguous female genitalia +HP:0000061 appearance atypical female genitals +HP:0000187 alveolar broad jaw processes +HP:0000187 alveolar jaw processes wide +HP:0000187 alveolar broad ridges +HP:0000187 gum ridges wide +HP:0000187 alveolar margins wide +HP:0000187 alveolar ridges widened +HP:0000187 alveolar broad margins +HP:0005354 cell function lack t +HP:0005354 absent cellular immunity +HP:0005353 herpes recurrent +HP:0005353 herpesvirus susceptibility to +HP:0000180 lobulated tongue +HP:0000180 bumpy tongue +HP:0000180 lingual lobules +HP:0000180 lobulate tongue +HP:0000183 hypokinesia tongue +HP:0000183 difficulty movements tongue +HP:0000183 hypokinesia lingual +HP:0000183 difficulty lingual movements +HP:0000182 abnormality movement tongue +HP:0000182 abnormality lingual movement +HP:0410023 abnormal buccal cell cells distribution junction mucosal proteins +HP:0410022 fish odour vaginal +HP:0410022 fish odor vaginal +HP:0410021 musty odour +HP:0410021 musty odor +HP:0006449 distal epiphyseal osteolysis radial +HP:0410027 around bone loss teeth +HP:0410027 alveolar around bone loss teeth +HP:0410026 abnormality periodontium +HP:0001340 c enhancement reflex +HP:0410028 herpes oral recurrent +HP:0410028 herpes labialis recurrent +HP:0011169 clonic generalized seizures +HP:0011168 eyelid myoclonias +HP:0011161 auras olfactory +HP:0011160 aura gustatory +HP:0011160 hallucinations taste +HP:0011160 focal gustatory seizure sensory +HP:0011160 auras gustatory +HP:0011163 auras somatosensory +HP:0011162 auras psychic +HP:0011165 auras visual +HP:0011164 auras vegetative +HP:0011164 auras autonomic +HP:0011167 local seizures tonic +HP:0011167 partial seizures tonic +HP:0011167 focal seizures tonic +HP:0011166 focal myoclonic seizures +HP:0011166 myoclonic partial seizures +HP:0011166 local myoclonic seizures +HP:0009809 abnormality bone limb portion upper wide +HP:0009809 abnormality limbs metaphyseal upper +HP:0009809 abnormality limb metaphysis upper +HP:0009808 abnormality bone limbs long shaft upper +HP:0009808 abnormality diaphyses involving limbs upper +HP:0009808 abnormality diaphyseal limbs upper +HP:0009808 anomaly diaphyses limb upper +HP:0009803 hands hypoplastic phalanges +HP:0009803 finger phalanx short +HP:0009803 bones finger short +HP:0009803 hypoplastic phalanges +HP:0009803 phalanges rudimentary +HP:0009803 hand hypoplastic phalanges small +HP:0009803 phalanges shortened +HP:0009803 hypoplasia phalangeal +HP:0009803 phalanges short +HP:0009802 aplasia hand phalanges +HP:0009802 absent bone finger hand +HP:0009800 diabetes gestational +HP:0009800 hyperglycemia maternal +HP:0009800 diabetes maternal +HP:0009806 diabetes insipidus nephrogenic +HP:0009805 congestive failure heart low output +HP:0009804 number reduced teeth +HP:0009804 agenesis tooth +HP:0009804 fewer normal teeth than +HP:0009804 count decreased tooth +HP:0009804 development failure some teeth +HP:0009804 missing some teeth +HP:0009804 decreased number teeth +HP:0002176 compression cord spinal +HP:0002176 cord on pressure spinal +HP:0002174 postural tremor +HP:0002172 balance impairment +HP:0002172 abnormal retropulsion test +HP:0002172 imbalance +HP:0002172 instability postural +HP:0002173 hypoglycemic seizures +HP:0002170 hemorrhage intracranial +HP:0002170 bleeding skull within +HP:0002171 cerebral gliosis +HP:0002171 gliosis +HP:0002171 astrocytes brain excess +HP:0002179 opisthotonos +HP:0002179 opisthotonus +HP:0012667 abnormality left motion regional ventricular wall +HP:0012666 ejection fraction reduced severely +HP:0012665 ejection fraction moderately reduced +HP:0030295 chondromatosis femur metaphyseal +HP:0012663 ejection fraction mildly reduced +HP:0012662 fdg hypometabolism parietal pet +HP:0012661 fdg hypometabolism hypothalamic pet +HP:0007529 dysplasia ectodermal hidrotic +HP:0007526 arms color loss on patchy skin +HP:0007526 arms hypopigmented on patches skin +HP:0007524 atypical neurofibromatosis +HP:0007525 by covered scaly skin subcutaneous thin tissue yellow +HP:0007522 folds increased number skin +HP:0030306 11 thoracic vertebrae +HP:0012669 carotid sinus syncope +HP:0030299 abnormality outermost portion thighbone wide +HP:0030299 abnormality distal femoral metaphyseal +HP:0100595 camptocormia +HP:0100594 esophageal web +HP:0008089 abnormality bone fifth metatarsal +HP:0008089 5th abnormality bone foot long +HP:0030307 bone flared limb lower metaphysis +HP:0030307 flared limb lower metaphysis +HP:0100590 fistula rectal +HP:0100593 calcification cartilage +HP:0100592 abscess peritoneal +HP:0100599 diphallia +HP:0100599 bifid penis +HP:0100599 duplication penile +HP:0100598 excess fluid lungs +HP:0100598 lung wet +HP:0100598 oedema pulmonary +HP:0100598 edema lung +HP:0100598 edema pulmonary +HP:0008648 anteriorly displaced meatus urethral +HP:0006409 bowing leg progressive +HP:0030129 activity assay cofactor impaired ristocetin +HP:0008647 developmental failure females pubertal +HP:0030120 3 absent calpain fiber muscle +HP:0030121 3 calpain fiber muscle reduced +HP:0030122 fiber muscle perlecan reduced +HP:0030123 a abnormal c fiber lamin muscle +HP:0030124 a c fiber lamin muscle reduced +HP:0030125 fifth lumbar sacralization vertebra +HP:0030125 l5 sacralization +HP:0030126 abnormality endometrium +HP:0030127 endometriosis +HP:0007165 heterotopia neuronal subependymal +HP:0007165 gray heterotopia matter subependymal +HP:0007165 gray heterotopia matter periventricular +HP:0007165 heterotopia neuronal periventricular +HP:0100049 2nd epiphyses irregular toe +HP:0100049 2nd bone end irregular part toe +HP:0100048 2nd bone end fragmentation part toe +HP:0100048 2nd epiphyses fragmentation toe +HP:0100047 2nd enlarged epiphyses toe +HP:0100047 2nd bone end enlarged part toe +HP:0100046 2nd bone cone end part shaped toe +HP:0100046 2nd cone epiphyses shaped toe +HP:0100045 2nd bracket epiphyses toe +HP:0100045 2nd bone bracket end part shaped toe +HP:0100044 2nd absent epiphyses toe +HP:0100044 2nd absent bone end part toe +HP:0100043 5th broad toe +HP:0100043 broad pinky toe +HP:0100043 broad little toe +HP:0100043 broad pinkie toe +HP:0100042 4th broad toe +HP:0100042 4th toe wide +HP:0100041 3rd broad toe +HP:0100041 3rd toe wide +HP:0030309 bone calf flared outermost portion wide +HP:0030309 distal fibular flared metaphysis +HP:0025593 muscle oblique restriction superior +HP:0025592 oblique palsy superior +HP:0025592 muscle oblique superior weakness +HP:0025591 abnormal muscle oblique physiology superior +HP:0025590 abnormal extraocular muscle physiology +HP:0025597 inferior muscle oblique restriction +HP:0025596 abnormal inferior muscle oblique physiology +HP:0025595 adduction depression under +HP:0025595 muscle oblique superior underaction +HP:0025594 muscle oblique overaction superior +HP:0011644 coronary diverticulum sinus +HP:0025599 inferior muscle oblique overaction +HP:0025598 inferior oblique palsy +HP:0025598 inferior muscle oblique weakness +HP:0007330 encephalocele frontal +HP:0011645 aneurysm sinus valsalva +HP:0011645 dilatation sinus valsalva +HP:0011645 aneurysm aortic sinus +HP:0025045 abnormal by lactate level magnetic resonance spectroscopy +HP:0025045 abnormal brain by lactate level mrs +HP:0025044 abscess lung +HP:0025047 abnormal brain by choline level mrs +HP:0025047 abnormal brain by choline level magnetic resonance spectroscopy +HP:0025046 brain by lactate level magnetic reduced resonance spectroscopy +HP:0025046 brain by lactate level mrs reduced +HP:0006929 encephalopathy hypoglycemic +HP:0011646 aorta coarctation juxtaductal +HP:0006699 atrial contractions premature +HP:0006699 ectopic rhythms supraventricular +HP:0006699 beats premature supraventricular +HP:0006699 atrial complex premature +HP:0006699 atrial beats ectopic +HP:0025042 abnormality lymph mesenteric nodes +HP:0006696 extrasystoles polymorphic polytopic ventricular +HP:0006695 cushion defect endocardial +HP:0006695 atrioventricular defect septal +HP:0006695 center heart hole +HP:0006695 atrioventricular canal defect +HP:0006926 leukodystrophy metachromatic variant +HP:0006921 axial muscle stiffness +HP:0006692 chordae short tendineae tricuspid valve +HP:0006691 myxoma pulmonic valve +HP:0006690 calcification myocardial +HP:0006690 calcified myocardium +HP:0000131 fibroid uterine +HP:0000131 leiomyoma uterine +HP:0000131 benign leiomyomas uterine +HP:0025188 retinal vasculitis +HP:0031659 fourth heart sound +HP:0031658 heart sound third +HP:0005005 at birth bowing femoral present straightening time with +HP:0005005 at birth bowing straightening thighbone time with +HP:0005004 epiphyses flattened proximal radial +HP:0005003 aplasia capital epiphysis femoral hypoplasia +HP:0005003 absent end innermost part thighbone underdeveloped +HP:0005003 absent end innermost part small thighbone +HP:0005001 dislocation patellar recurrent +HP:0005001 dislocation patellas recurrent +HP:0031651 abnormal physiology tricuspid valve +HP:0031650 abnormal atrioventricular physiology valve +HP:0031653 abnormal heart physiology valve +HP:0031652 abnormal aortic physiology valve +HP:0031655 aortic quadricuspid valve +HP:0031654 abnormal physiology pulmonary valve +HP:0200134 encephalopathy epileptic +HP:0005008 dislocations joint large +HP:0002509 hypertonia limb +HP:0006070 contracture joint metacarpophalangeal +HP:0006070 contractures joint metacarpal phalangeal +HP:0006077 absent creases finger flexion proximal +HP:0008846 growth intrauterine retardation severe +HP:0008846 deficiency growth prenatal severe +HP:0012843 follicle hair neoplasm +HP:0012842 appendage neoplasm skin +HP:0012842 adnexal skin tumor +HP:0012842 adnexal neoplasm skin +HP:0012841 retinal tortuosity vascular +HP:0012841 retinal tortuous vessels +HP:0010027 1st bone hand long wide +HP:0010027 1st broad metacarpal +HP:0010026 1st aplasia hypoplasia metacarpal +HP:0010026 1st absent bone hand long small +HP:0010026 1st absent bone hand long underdeveloped +HP:0010025 1st bone end hand long part triangular +HP:0010025 1st epiphysis metacarpal triangular +HP:0010024 1st epiphysis metacarpal stippling +HP:0010024 epiphyseal first metacarpal stippling +HP:0010024 bone calcifications end first hand long part speckled +HP:0010023 1st bone end hand long part small +HP:0010023 1st epiphysis metacarpal small +HP:0010022 1st metacarpal pseudoepiphysis +HP:0010021 1st bone density end hand increased long part +HP:0010021 1st epiphysis ivory metacarpal +HP:0010020 1st epiphysis irregular metacarpal +HP:0010020 1st bone end hand irregular long part +HP:0012847 continua epilepsia partialis +HP:0010029 1st curved metacarpal +HP:0010029 1st bone curved hand long +HP:0012846 multiple trichilemmomata +HP:0012846 multiple trichilemmomas +HP:0100025 overfriendliness +HP:0012845 single trichilemmoma +HP:0012844 trichilemmoma +HP:0012844 tricholemmoma +HP:0011643 atrial coronary defect septal sinus +HP:0010709 2 4 finger syndactyly +HP:0010709 fingers fourth second syndactyly to +HP:0010709 fingers index ring through webbed +HP:0031248 palmar pruritus +HP:0031248 itchy palm +HP:0031249 parageusia +HP:0031249 dysgeusia +HP:0031249 metallic taste +HP:0031249 metallic mouth taste +HP:0031246 cough nonproductive +HP:0031246 cough dry +HP:0031246 coughing dry +HP:0031247 cough whooping +HP:0031244 lip swollen +HP:0031244 lip swelling +HP:0031245 cough productive +HP:0031245 cough wet +HP:0031242 chylomicron circulating concentration decreased +HP:0031242 chylomicron circulating decreased levels +HP:0031242 hypochylomicronemia +HP:0031243 circulating decreased density levels lipoprotein low very +HP:0031243 cholesterol concentration decreased vldl +HP:0031240 choroidal juxtafoveal neovascularization +HP:0031241 choroidal neovascularization subfoveal +HP:0008197 absence development pubertal +HP:0008194 adenomas beta cell multiple pancreatic +HP:0008193 gonadal insufficiency primary +HP:0008191 athyroidal hypothyroidism +HP:0008191 agenesis thyroid +HP:0008198 hypoparathyroidism +HP:0008198 hypoparathyroidism neonatal +HP:0004754 atrial chronic fibrillation +HP:0004754 atrial fibrillation permanent +HP:0004755 supraventricular tachyarrhythmia +HP:0004755 supraventricular tachycardia +HP:0004756 tachycardia ventricular +HP:0004757 atrial fibrillation paroxysmal +HP:0009582 2nd bullet finger phalanx proximal shaped +HP:0009582 bone bullet finger index innermost shaped +HP:0004751 episodes tachycardia ventricular +HP:0004751 paroxysmal tachycardia ventricular +HP:0004752 atrioventricular dissociation +HP:0009581 2nd broad finger phalanx proximal +HP:0009581 bone finger index innermost wide +HP:0009581 broad finger index phalanx proximal wide +HP:0006156 1st deviation finger ulnar +HP:0006156 deviation thumb ulnar +HP:0006156 curved deviated palm thumb towards +HP:0004758 effort induced polymorphic tachycardias ventricular +HP:0009588 schwannoma vestibular +HP:0009588 neurinoma vestibular +HP:0009588 acoustic neuroma +HP:0009588 neurilemmoma vestibular +HP:0009588 neurolemmoma vestibular +HP:0009588 cell schwann tumor vestibular +HP:0009589 bilateral schwannoma vestibular +HP:0009589 acoustic bilateral neuromas +HP:0010683 alkaline low non phosphatase specific tissue +HP:0010682 alkaline elevated phosphatase placental +HP:0010681 alkaline elevated intestinal phosphatase +HP:0010680 alkaline elevated origin phosphatase renal +HP:0010687 alkaline intestinal low phosphatase +HP:0010686 alkaline hepatic low origin phosphatase +HP:0010685 alkaline low origin phosphatase renal +HP:0010684 alkaline bone low origin phosphatase +HP:0010689 digits duplication image mirror +HP:0010689 image mirror polydactyly +HP:0010688 alkaline low phosphatase placental +HP:0008229 lymphangiectasia thyroid +HP:0008229 lymphangiectasis thyroid +HP:0000437 flat nose tip +HP:0000437 nasal retruded tip +HP:0000437 nasal recessed tip +HP:0000437 flattened nasal tip +HP:0000437 caved nasal tip +HP:0000437 nose retruded tip +HP:0000437 depressed nose tip +HP:0000437 depressed nasal tip +HP:0000437 flat nasal tip +HP:0000436 deformity nasal tip +HP:0000436 malformation nose tip +HP:0000436 malformation nasal tip +HP:0000436 abnormality nasal tip +HP:0000436 abnormality nose tip +HP:0000436 deformity nose tip +HP:0000431 bridge nose wide +HP:0000431 bridge broad flat nasal +HP:0000431 bridge nasal widened +HP:0000431 bridge increased nose width +HP:0000431 bridge increased nasal width +HP:0000431 bridge broad nasal +HP:0000431 breadth bridge increased nasal +HP:0000431 bridge broadened nasal +HP:0000431 bridge nasal wide +HP:0000431 broad nasal root +HP:0000431 breadth bridge increased nose +HP:0000430 alar cartilage hypoplasia +HP:0000430 alar hypoplastic nasae +HP:0000430 alae nasal small +HP:0000430 hypoplastic nostrils +HP:0000430 alae hypoplastic nasi thin +HP:0000430 around nostril tissue underdeveloped +HP:0000430 alae hypoplastic nasal +HP:0000430 alae hypoplastic nasi +HP:0000430 alar cartilage hypoplastic +HP:0000430 cartilage hypoplasia nasal +HP:0000430 hypoplastic nasal wings +HP:0000430 alae decreased nasal size +HP:0000430 alae nasal underdeveloped +HP:0000430 ala nasi underdeveloped +HP:0000430 hypoplastic nares +HP:0000430 alae hypoplastic nasae +HP:0000433 abnormality membrane mucous nasal +HP:0000433 abnormality membrane mucous nose +HP:0000433 abnormality mucosa nose +HP:0000433 abnormality mucosa nasal +HP:0003637 4 activity dioxygenase hydroxyphenylpyruvate reduced +HP:0008221 adrenal hyperplasia +HP:0008221 adrenal enlarged glands +HP:0008222 female infertility +HP:0008223 compensated hypothyroidism +HP:0008225 follicular hyperplasia thyroid +HP:0008226 hypoandrogenism +HP:0008226 androgen insufficiency +HP:0008227 hormone pituitary resistance thyroid to +HP:0100605 larynx neoplasm +HP:0100604 lip neoplasm +HP:0100604 lip neoplasia +HP:0100604 lip tumor +HP:0011376 abnormality ear inner morphological vestibule +HP:0011376 abnormality vestibular +HP:0100606 respiratory system tumor +HP:0100606 neoplasm respiratory system +HP:0100601 eclampsia +HP:0011371 infections recurrent skin viral +HP:0100603 pregnancy toxemia +HP:0100603 disorder hypertensive pregnancy +HP:0011373 cochlea incomplete partition +HP:0009050 atrophy muscle quadriceps +HP:0009050 muscles quad wasting +HP:0009051 content glycogen increased muscle +HP:0004532 hypertrichosis sacral +HP:0009053 distal limbs lower muscle weakness +HP:0009053 distal limb lower muscle weakness +HP:0009054 myopathy scapuloperoneal +HP:0011379 dilated ear inner vestibule +HP:0009056 below fat from limbs loss skin tissue upper +HP:0009056 adipose from limbs loss subcutaneous tissue upper +HP:0003985 exostoses ulna +HP:0003986 exostoses radius +HP:0009295 4th finger hypoplastic middle phalanx small +HP:0009295 finger hypoplastic middle phalanx ring small +HP:0009295 finger middle phalanx ring short +HP:0009295 4th finger middle phalanx short +HP:0009295 4th bone finger middle short +HP:0010975 abnormality b cell numbers +HP:0010975 abnormal b cells numbers +HP:0010975 abnormal b cell count +HP:0010975 abnormality b cell count +HP:0010975 abnormal b cells number +HP:0010974 abnormality leukocytes myeloid +HP:0031868 ataxia optic +HP:0031869 dislocation joint recurrent +HP:0010971 absence antigen erythrocytes lutheran on +HP:0010970 abnormality antigen blood group +HP:0010972 erythropoiesis ineffective +HP:0010972 defective erythropoiesis +HP:0010972 anemia inadequate production +HP:0010972 anemia dyserythropoietic +HP:0031862 heart increased rate variability +HP:0031863 agent bloodstream infectious +HP:0031860 abnormal heart rate variability +HP:0031861 decreased heart rate variability +HP:0031861 heart rate reduced variability +HP:0031866 clasp knife sign +HP:0031867 hypertonia neck +HP:0031864 bacteremia +HP:0031865 abnormal hepatic physiology +HP:0031865 abnormal liver physiology +HP:3000028 abnormality anguli depressor muscle oris +HP:0011088 dens dente +HP:0011088 a tooth within +HP:0011088 dens invaginatus +HP:0011089 conjoined teeth +HP:0011089 double tooth +HP:0011086 both dentinogenesis imperfecta sets teeth +HP:0011086 dentinogenesis imperfecta permanent primary teeth +HP:0011086 adult baby dentinogenesis imperfecta teeth +HP:0011087 dens evaginatus +HP:0011087 cusps talon +HP:0011087 cusp extra front inside on tooth +HP:0011087 cusp talon +HP:0011084 dental enamel hypocalcification +HP:0011084 calcified enamel poorly tooth +HP:0011084 calcification decreased enamel +HP:0011085 soft teeth +HP:0011085 enamel immature tooth +HP:0011085 enamel soft tooth +HP:0011085 dental enamel hypomature +HP:0011082 incisor pointed primary +HP:0011082 conical deciduous incisor +HP:0011082 front primary shark tooth +HP:0011082 conical incisor primary +HP:0011082 baby front pointed tooth +HP:0011082 baby cone front shaped tooth +HP:0011082 conoid incisor primary +HP:0011082 incisor peg primary shaped +HP:0011082 baby front peg shaped tooth +HP:0011083 front shark tooth upper +HP:0011083 cone front shaped tooth upper +HP:0011083 front peg shaped tooth upper +HP:0011083 conical incisor maxillary +HP:0011083 cone incisor maxillary shaped +HP:0011083 conoid incisor maxillary +HP:0011083 front pointed tooth upper +HP:0011083 incisor maxillary pointed +HP:0011080 abnormality bicuspid shape +HP:0011080 abnormality morphology premolar +HP:0011080 abnormality bicuspid morphology +HP:0011080 abnormality premolar shape +HP:0011081 incisor increased width +HP:0011081 incisor increased size +HP:0011081 hyperplasia incisor +HP:0011081 incisor macrodontia +HP:0011081 incisor large +HP:0011081 hypertrophy incisor +HP:0002588 duodenal ulcer +HP:0011649 after arteriosus birth ductus patent premature +HP:0030357 cancer cell lung oat +HP:0030357 carcinoma cell lung small +HP:0030357 carcinoma cell lung oat +HP:0030357 cancer cell lung small +HP:0030356 gamma increased interferon level serum +HP:0030355 abnormal gamma interferon level serum +HP:0030354 abnormal interferon level serum +HP:0030353 1 decreased factor growth insulin like serum +HP:0030352 1 abnormal factor growth insulin level like serum +HP:0030351 plaque urticarial +HP:0030350 erythematous papule +HP:0030350 blue papule red +HP:0030359 carcinoma cell lung squamous +HP:0030358 carcinoma cell lung non small +HP:0030358 cancer cell lung non small +HP:0011886 hyphema +HP:0011887 choroid hemorrhage +HP:0011887 choroidal hemorrhage +HP:0011884 abnormal bleeding stump umbilical +HP:0011885 bleeding eye from +HP:0011885 eye haemorrhage +HP:0011885 eye hemorrhage +HP:0011882 decreased p2y12 platelet receptor +HP:0011883 abnormal granules platelet +HP:0011880 acute coagulation disseminated intravascular +HP:0011881 decreased glycoprotein platelet vi +HP:0003162 fasting hypoglycemia +HP:0003162 blood fasting low sugar when +HP:0003163 acid aminolevulinic delta elevated urinary +HP:0003160 abnormal focusing isoelectric transferrin +HP:0003160 abnormal focusing isoelectric serum transferrin +HP:0003161 4 aciduria hydroxyphenylpyruvic +HP:0003161 aciduria hydroxyphenylpyruvic +HP:0003166 increased taurine urinary +HP:0003167 carnosinuria +HP:0003167 carnosine high levels urine +HP:0011888 bleeding cell red requiring transfusion +HP:0011889 bleeding minor no or trauma with +HP:0011889 bleeding easy +HP:0005830 contracture flexion toe +HP:0005830 contractures toes +HP:0005830 contractures toe +HP:0005830 contractures involving toes +HP:0000728 ability form impaired peer relationships to +HP:0011525 iris nevus +HP:0011525 eye freckle +HP:0005831 b brachydactyly type +HP:0010827 abnormality cranial nerve seventh +HP:0010827 abnormality facial nerve +HP:0002349 aware focal seizures +HP:0002349 awareness consciousness focal impairment or seizure without +HP:0002349 awareness consciousness focal impairment or seizures without +HP:0002349 awareness focal retained seizure with +HP:0002349 partial seizure simple +HP:0002349 partial seizures simple +HP:0002349 aware focal seizure +HP:0002345 action tremor +HP:0002345 ataxic tremor +HP:0002344 deterioration neurologic +HP:0002344 deterioration neurologic progressive +HP:0002344 neurological symptoms worsening +HP:0002344 neurodegeneration progressive +HP:0002344 deterioration mental progressive +HP:0002346 head tremor +HP:0002341 cervical compression cord +HP:0002341 cervical compression cord myelopathy +HP:0012621 cloaca persistent +HP:0012621 bladder cloacogenic +HP:0002343 hydrocephalus normal pressure +HP:0002342 deficiency mental moderate +HP:0002342 34 49 between iq +HP:0002342 mental moderate retardation +HP:0002342 disability intellectual moderate +HP:0410169 issues muscle shoulder +HP:0410169 abnormality musculature shoulder +HP:0100027 pancreatitis recurrent +HP:0100027 pancreatitis recurring +HP:0100027 inflammation pancreas recurring +HP:0010826 12 abnormality cranial nerve +HP:0010826 abnormality hypoglossal nerve +HP:0010826 abnormality cranial nerve twelfth +HP:0010826 abnormality cranial nerve xii +HP:0012624 2 chronic disease kidney stage +HP:3000027 abnormality buccinator muscle +HP:0010825 abnormality accessory nerve +HP:0010825 abnormality cranial nerve xi +HP:0010825 abnormality cranial eleventh nerve +HP:0008798 notch sacrosciatic widened +HP:0010948 abnormality cardiovascular fetal system +HP:0010948 abnormality circulation fetal system +HP:0011526 abnormality lens shape +HP:0010824 abnormal morphology nerve trigeminal +HP:0010824 abnormality cranial fifth nerve +HP:0010824 abnormal cranial fifth morphology nerve +HP:0010824 abnormality nervus trigeminus +HP:0031404 antigen impaired response specific +HP:0031404 adaptive immune impaired response +HP:0031405 poroma +HP:0031406 abnormal cytokine signaling +HP:0031407 cytokine defect signaling +HP:0031407 cytokine impaired signaling +HP:0040296 abnormal eyebrows location +HP:0040296 abnormally eyebrows placed +HP:0040296 abnormal eyebrow location +HP:0031401 alpha beta cd4 cd8 cells negative proportion reduced regulatory t +HP:0031402 ag cell impaired proliferation specific t +HP:0031402 adaptive cellular immune impaired response +HP:0031402 antigen cell defect proliferation specific t +HP:0031402 activated cell impaired proliferation t +HP:0031402 antigen cell proliferation reduced specific t +HP:0031403 cd8 cytoxicity impaired pathogen specific +HP:0031403 cd8 cytoxicity defect pathogen specific +HP:0006266 placenta small +HP:0006267 large placenta +HP:0006267 enlargement placental +HP:0006264 absent finger index small +HP:0006264 absent finger index underdeveloped +HP:0006264 2nd aplasia finger hypoplasia +HP:0006265 absent fingers small +HP:0006265 absent fingers underdeveloped +HP:0006265 aplasia fingers hypoplasia +HP:0006262 absent finger little small +HP:0006262 5th aplasia finger hypoplasia +HP:0006262 absent finger pinky small +HP:0006262 absent finger pinkie small +HP:0006262 absent finger pinkie underdeveloped +HP:0006262 absent finger little underdeveloped +HP:0006262 absent finger pinky underdeveloped +HP:0031409 abnormal lymphocyte physiology +HP:0006261 abnormal hand joint morphology phalangeal +HP:0006261 abnormality hand joints small +HP:0006261 abnormality hand joints phalangeal +HP:0008797 capital early epiphyses femoral ossification +HP:0010823 cranial ridged sutures +HP:0010823 cranial ridges suture +HP:0011576 atrioventricular defect intermediate septal +HP:0011576 atrioventricular canal defect intermediate +HP:0011577 atrioventricular canal defect partial +HP:0011574 atrioventricular unopened valve +HP:0011574 atrioventricular imperforate valve +HP:0008537 at cleft pinna portion superior +HP:0008537 at cleft ear portion superior +HP:0100735 crisis hypertensive +HP:0011573 hypoplasia tricuspid valve +HP:0011573 hypoplastic tricuspid valve +HP:0011573 tricuspid underdeveloped valve +HP:0011570 mitral stenosis +HP:0100736 abnormality palate soft +HP:0100736 abnormality muscular palate +HP:0100736 abnormal morphology palate soft +HP:0100736 abnormality velum +HP:0100736 abnormality palatinum velum +HP:0009616 bifid first metacarpal +HP:0009616 bone first hand long notched +HP:0009616 duplication first metacarpal partial +HP:0009617 abnormality distal phalanx thumb +HP:0009617 abnormality phalanx terminal thumb +HP:0009617 abnormality bone outermost thumb +HP:0009614 bifid phalanx proximal thumb +HP:0009614 bone notched thumb +HP:0009615 bone complete duplication first hand long +HP:0009615 complete duplication first metacarpal +HP:0009612 complete distal duplication partial phalanx thumb +HP:0009612 distal duplication phalanx thumb +HP:0009612 bone duplication outermost thumb +HP:0009613 duplication phalanx proximal thumb +HP:0009613 bone innermost notched thumb +HP:0009613 complete duplication partial phalanx proximal thumb +HP:0009611 bone notched outermost thumb +HP:0009611 notched phalanx terminal thumb +HP:0009611 distal duplication incipient phalanx thumb +HP:0009611 bifid phalanges terminal thumbs +HP:0009611 bifid distal phalanx thumb +HP:0009618 abnormality phalanx proximal thumb +HP:0009618 abnormal bone innermost thumb +HP:0004802 episodic hemolysis +HP:0004802 anemia episodic hemolytic +HP:0100216 bone end enlarged little middle part toe +HP:0100216 bone end enlarged middle part pinkie toe +HP:0100216 bone end enlarged middle part pinky toe +HP:0100216 5th enlarged epiphysis middle phalanx toe +HP:0012308 c9 decreased serum +HP:0012308 c9 complement decreased serum +HP:0012309 amyloidosis cutaneous +HP:0012304 aortic arch underdeveloped +HP:0012304 aortic arch hypoplastic +HP:0012304 aortic arch hypoplasia +HP:0012305 aortic arch coarctation descending +HP:0012306 abnormal ossification rib +HP:0012306 abnormal bones maturation rib +HP:0012307 ribs spatulate +HP:0012300 agenesis ureteral +HP:0012301 cdg consistent focusing ii isoelectric serum transferrin type with +HP:0012301 2 abnormal focusing isoelectric pattern serum transferrin type +HP:0012301 abnormal focusing ii isoelectric pattern serum transferrin type +HP:0012301 2 isoform profile transferrin type +HP:0012301 ii isoform profile transferrin type +HP:0012302 encephalitis herpes simplex +HP:0012303 abnormality aortic arch +HP:0012303 abnormal aortic arch morphology +HP:0009551 bone density finger increase index uneven +HP:0009551 2nd finger patchy phalanx sclerosis +HP:0009551 2nd finger patchy phalanges sclerosis +HP:0006488 arm bowing +HP:0006488 arm bending +HP:0006489 abnormality bone femoral portion wide +HP:0006489 abnormality femoral metaphysis +HP:0010820 dacrystic seizures +HP:0009550 2nd defects finger osteolytic phalanges +HP:0009550 defect finger index lytic phalanges +HP:0006482 malformed teeth +HP:0006482 malformation teeth +HP:0006482 abnormality shape tooth +HP:0006482 deformity teeth +HP:0006482 dental malformations +HP:0006482 misshapened teeth +HP:0006482 abnormality dental morphology +HP:0006482 deformity dental +HP:0006482 abnormality dental shape +HP:0006482 misshapen teeth +HP:0006482 abnormally shaped teeth +HP:0006483 abnormal number teeth +HP:0006483 abnormal count tooth +HP:0006483 abnormal complement teeth +HP:0006480 early loss tooth +HP:0006480 loss premature tooth +HP:0006480 loss premature teeth +HP:0006480 exfoliation premature teeth +HP:0006480 loss teeth +HP:0006481 abnormality baby teeth +HP:0006481 abnormality milk teeth +HP:0006481 abnormality deciduous teeth +HP:0006481 abnormality primary teeth +HP:0006486 abnormality dental root +HP:0006486 abnormality root tooth +HP:0006487 bones bowed long +HP:0006487 bowing diaphyseal +HP:0006487 bones bowing long +HP:0006487 camptomelia +HP:0006487 bones bowing diaphyseal long +HP:0006485 agenesis incisor +HP:0006485 absence incisors +HP:0006485 incisors missing +HP:0006485 front missing tooth +HP:0006485 development failure incisor +HP:0006485 absence front tooth +HP:0031131 abnormal exposure phosphatidylserine plalelet +HP:0004404 abnormality nipple +HP:0004404 abnormal morphology nipple +HP:0004704 fifth metatarsal short +HP:0004704 5th bone foot long short +HP:0004704 bone fifth hypoplasia metatarsal +HP:0004405 nipples prominent +HP:0009555 decreased length pharynx +HP:0009555 hypoplasia pharynx +HP:0009555 pharynx underdevelopment +HP:0009555 pharynx small +HP:0009555 decreased pharynx width +HP:0009555 hypotrophic pharynx +HP:0009555 decreased diameter pharynx +HP:0009555 decreased pharynx size +HP:0009555 decreased pharynx volume +HP:0004406 epistaxis recurrent spontaneous +HP:0004406 nosebleed recurrent spontaneous +HP:0004406 epistaxis recurrent +HP:0004406 nosebleed recurring +HP:0004406 epistaxes recurrent +HP:0000166 periodontitis severe +HP:0000166 disease periodontal severe +HP:0000166 pyorrhea severe +HP:0000166 disease gum severe +HP:0004407 bony bossing paranasal +HP:0001069 excessive sporadic sweating +HP:0001069 episodic hyperhidrosis +HP:0001065 distensae striae +HP:0001065 cutis distensae striae +HP:0001065 atrophicae striae +HP:0001065 striae +HP:0001065 marks stretch +HP:0001065 purplish striae +HP:0004400 abnormality pylorus +HP:0001067 multiple neurofibromas +HP:0001067 neurofibromata +HP:0001067 neurofibromatosis +HP:0001067 neurofibromas +HP:0009556 absent tibia +HP:0009556 aplasia tibia +HP:0009556 absent shankbone +HP:0009556 absent shinbone +HP:0001061 breaking out +HP:0001060 axillary pterygium +HP:0001060 axillary pterygia +HP:0001063 blue color face feet hands or parts persistent +HP:0001063 acrocyanosis +HP:0001062 atypical mole +HP:0001062 atypical nevus +HP:0001062 dysplastic nevus +HP:0009559 2nd bullet distal finger phalanx shaped +HP:0009559 bone bullet finger index outermost shaped +HP:0009558 bone finger index outermost wide +HP:0009558 2nd broad distal finger phalanx +HP:0004403 atresia esophageal proximal +HP:0100850 neoplasm penis +HP:0100850 neoplasia penis +HP:0100850 penis tumor +HP:0100851 abnormal affect behaviour emotion +HP:0100851 abnormal affect behavior emotion +HP:0100852 abnormal anxiety behavior fear related +HP:0100853 areola hypoplastic +HP:0100853 areolae hypoplastic +HP:0100854 aplasia musculature +HP:0100854 absent musculature +HP:0100855 triceps underdeveloped +HP:0100855 hypoplasia triceps +HP:0100855 small triceps +HP:0100856 ossified poorly vertebrae +HP:0008050 deformity fissures palpebral +HP:0008050 abnormality fissures palpebral +HP:0008050 fissures malformation palpebral +HP:0008050 abnormality between eyelids opening +HP:0100858 aneurysm artery celiac +HP:0100858 artery celiac dilatation +HP:0100859 artery dilatation mesenteric superior +HP:0100859 aneurysm artery mesenteric superior +HP:0008059 absent macula underdeveloped +HP:0008059 aplasia hypoplasia macula +HP:0008058 aplasia hypoplasia nerve optic +HP:0008058 absent nerve optic small +HP:0008058 absent nerve optic underdeveloped +HP:0500115 concentration increased stool urobilinogen +HP:0009266 4th epiphysis finger irregular phalanx proximal +HP:0009266 bone end finger innermost irregular part ring +HP:0009265 bone end finger fragmentation innermost part ring +HP:0009265 4th epiphysis finger fragmentation phalanx proximal +HP:0009264 4th enlarged epiphysis finger phalanx proximal +HP:0009264 bone end enlarged finger innermost part ring +HP:0500111 benzodiazepines positive test urine +HP:0500110 cannabinoid positive test urine +HP:0500110 marijuana positive test urine 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lingual +HP:0000221 fissured tongue +HP:0000221 scrotal tongue +HP:0000221 grooves prominent tongue +HP:0000222 gingival hyperkeratosis +HP:0000223 abnormality sensation taste +HP:0000224 decreased sensation taste +HP:0000224 lost taste +HP:0000224 decreased taste +HP:0000225 gingival hemorrhage +HP:0000225 bleeding gums +HP:0000225 gingivorrhagia +HP:0000225 bleeding gingival +HP:0000227 lingual telangiectasia +HP:0000227 telangiectasia tongue +HP:0000227 spider tongue veins +HP:0000227 angioectasias lingual +HP:0000227 angioectasias tongue +HP:0000228 mouth spider veins +HP:0000228 cavity oral spider veins +HP:0000228 angioectasias cavity oral +HP:0000228 angioectasias mouth +HP:0000228 cavity oral telangiectasia +HP:0000228 cavity oral teleangiectasia +HP:0000885 broad ribs +HP:0000885 ribs wide +HP:0000886 cage deformed rib +HP:0005619 deformity gibbus thoracolumbar +HP:0005619 gibbus thoracolumbar +HP:0005619 kyphosis thoracolumbar +HP:0000882 hypoplastic scapulae +HP:0000882 blade shoulder small +HP:0000882 scapulae small +HP:0000882 hypoplastic scapula +HP:0000882 scapulae short +HP:0000882 hypoplasia scapular +HP:0000882 scapula small +HP:0000883 ribs thin +HP:0000883 ribs slender +HP:0003750 fatiguability increased muscle +HP:0003750 fatigue muscle +HP:0003752 episodic flaccid weakness +HP:0003755 1 2 fibers relatively smaller than type +HP:0000117 decreased filtration for glomerular maximum per phosphate rate reabsorption tubular +HP:0000117 low phosphate reabsorption tubular +HP:0000117 phosphate renal wasting +HP:0000117 decreased phosphate reabsorption renal tubular +HP:0003759 lymphatic underdeveloped vessels +HP:0003759 hypoplasia lymphatic vessels +HP:0003758 adipose reduced subcutaneous tissue +HP:0003758 fat reduced subcutaneous +HP:0003758 below fat reduced skin tissue +HP:0003758 adipose decreased subcutaneous tissue +HP:0003758 decreased fat subcutaneous +HP:0003758 adipose scanty tissue +HP:0005474 calvarium ossified poorly +HP:0005474 calvaria ossified poorly +HP:0005474 skullcap soft +HP:0005474 calvarium undermineralized +HP:0005474 calvaria soft +HP:0005474 calvarial decreased ossification +HP:0001933 hemorrhage subcutaneous +HP:0001933 below bleeding skin +HP:0001931 anemia hypochromic +HP:0001931 anaemia hypochromic +HP:0001930 anemia hemolytic nonspherocytic +HP:0001937 anemia hemolytic microangiopathic +HP:0001935 anemia microcytic +HP:0001934 after bleeding minor prolonged trauma +HP:0001934 after bleeding persistent trauma +HP:0001934 after bleeding excessive minor trauma +HP:0001934 bleeding frequent trauma with +HP:0000112 disease kidney +HP:0000112 damage kidney +HP:0000112 nephropathy +HP:0001939 abnormality metabolism +HP:0001939 abnormality homeostasis metabolism +HP:0001939 abnormality laboratory +HP:0005473 ear fusion middle ossicles +HP:0010760 aplasia toes +HP:0010760 aplasia toe +HP:0010760 absent toe +HP:0010760 absent toes +HP:0008866 faltering infections recurrent secondary to weight +HP:0008866 failure infections recurrent secondary thrive to +HP:0010762 chordoma +HP:0010763 columella insertion low +HP:0010763 ala columella higher than +HP:0010764 decreased eyelashes length +HP:0010764 eyelashes short +HP:0010765 hyperkeratosis palmar +HP:0010766 calcification ectopic +HP:0007307 deterioration neurologic rapid +HP:0010769 pilonidal sinus +HP:0010769 cyst pilonidal +HP:0031383 abnormal expression lymphocyte marker surface +HP:0031382 anti cd3 decreased lymphocyte proliferation response to +HP:0000086 abnormal kidney location +HP:0000086 ectopic kidney +HP:0000086 displaced kidney +HP:0000086 ectopia renal +HP:0000086 ectopic kidneys +HP:0007305 cns demyelination +HP:0007305 central demyelination matter white +HP:0031387 count increased megakaryocyte multinucleated +HP:0031386 count increased micromegakaryocyte +HP:0031385 hypolobulation megakaryocyte nucleus +HP:0000083 failure renal +HP:0000083 insufficiency renal +HP:0000083 adulthood failure renal +HP:0007787 cataract posterior subcapsular +HP:0007787 cataracts posterior subcapsular +HP:0007787 lens opacities posterior subcapsular +HP:0100007 neoplasm nervous peripheral system +HP:0100007 nervous peripheral system tumor +HP:0031389 abnormal expression ii mhc surface +HP:0031388 hyperlobulation megakaryocyte nucleus +HP:0000089 hypoplasia renal +HP:0000089 hypoplastic kidneys +HP:0000089 kidneys small +HP:0000089 hypoplastic kidney +HP:0000089 kidneys underdeveloped +HP:0004255 small trapezium +HP:0003574 blocking positive regitine test +HP:0004257 bone delayed ossification trapezoid +HP:0004257 bone delayed maturation trapezoid +HP:0004256 abnormality bone trapezoid +HP:0003571 propionicacidemia +HP:0004250 lunate placed proximally +HP:0004253 absent trapezium +HP:0004253 absent bone trapezium +HP:0004252 abnormality trapezium +HP:0100004 mesothelioma pericardial +HP:0004259 abnormality bone hamate +HP:0004258 bone small trapezoid +HP:0012344 morphea +HP:0011791 defect hormone inactivating receptor stimulating thyroid +HP:0011791 defect inactivating tshr +HP:0005478 frontal increased sinus volume +HP:0005478 frontal large sinus +HP:0005478 frontal hypertrophy sinus +HP:0005478 frontal prominent sinuses +HP:0005478 frontal hyperplasia sinus +HP:0005478 frontal increased sinus size +HP:0011796 nephrogenic perilobar rests +HP:0011796 nephroblastomatosis perilobar +HP:0005479 deficiency ige +HP:0005479 decreased ige +HP:0005479 circulating decreased ige total +HP:0011797 1 carcinoma cell papillary renal type +HP:0011794 embryonal neoplasm renal +HP:0011795 intralobar nephrogenic rests +HP:0011795 intralobar nephroblastomatosis +HP:0011324 craniosynostosis multiple suture +HP:0011324 craniosynostosis multisutural +HP:0011799 facial malformation soft tissue +HP:0011799 anomaly facial soft tissue +HP:0011799 abnormality facial soft tissue +HP:0011799 deformity facial soft tissue +HP:0002486 after contraction delayed fibers muscle relaxation +HP:0002486 myotonia +HP:0002487 hyperkinesis +HP:0002487 hyperkinesia +HP:0002487 muscle spasms +HP:0002483 bulbar signs +HP:0002480 encephalopathy hepatic +HP:0010714 2 4 syndactyly toes +HP:0010714 2 3 4 syndactyly toes +HP:0010714 2 4 syndactyly toe +HP:0010714 2nd 4th toes webbed +HP:0002488 acute leukemia +HP:0002488 acute blood cancer +HP:0002488 acute leukemias +HP:0410043 abnormal morphology neural tube +HP:0410042 abnormal liver morphology +HP:0410049 deformity radial ray +HP:0410049 anomaly radial ray +HP:0410049 abnormality radial ray +HP:0011143 age cataract cortical related +HP:0011142 age cataract nuclear related +HP:0011141 age clouding eye lens with +HP:0011141 age cataract related +HP:0003288 defect mitochondrial pcc +HP:0003288 carboxylase coa defect mitochondrial propionyl +HP:0011415 calcified placenta +HP:0011414 hydrops placenta +HP:0011414 hydropic placenta +HP:0011145 seizures symptomatic +HP:0011416 placental thromboembolism +HP:0011416 infarction placental +HP:0011419 abruptio placentae +HP:0011419 abruption placental +HP:0003282 alkaline low phosphatase +HP:0003282 alkaline decreased phosphatase serum +HP:0003281 elevated ferritin serum +HP:0003281 ferritin increased serum +HP:0003281 ferritin increased +HP:0003281 hyperferritinaemia +HP:0003281 ferritin high level +HP:0003281 ferritin increased plasma +HP:0003281 hyperferritinemia +HP:0003281 ferritin increased level serum +HP:0011328 abnormality fontanelles +HP:0011328 anomaly fontanelles +HP:0003287 dysfunction mitochondrial +HP:0003287 abnormality metabolism mitochondrial +HP:0003286 blood cystathionine high levels +HP:0003286 cystathioninemia +HP:0002159 excretion heparan sulfate urine +HP:0002629 arteriovenous gastrointestinal malformation +HP:0002150 hypercalcinuria +HP:0002150 hypercalciuria +HP:0002150 calcium elevated levels urine +HP:0002623 aorta dextroposition +HP:0002623 aortic overriding valve +HP:0002623 aorta overriding +HP:0002152 hyperproteinemia +HP:0002621 atherosclerotic cardiovascular disease 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+HP:0000926 bodies flattened vertebral +HP:0000926 bodies flat vertebral +HP:0007508 hyperkeratosis palmar punctate +HP:0007509 hyperpigmentation hypo patchy +HP:0007509 hyper hypo patchy pigmentation +HP:0008738 duplicated kidney partially +HP:0008739 labial pseudohypertrophy +HP:0032128 increased plasmablasts proportion +HP:0032129 decreased plasmablasts proportion +HP:0032122 acuity low very visual +HP:0032123 low ultra vision +HP:0032120 abnormal nervous peripheral physiology system +HP:0032121 froment sign thumb +HP:0032121 froment sign +HP:0032126 b cells class decreased memory non proportion switched +HP:0032127 abnormal plasmablast proportion +HP:0032124 abnormal b cells class memory non proportion switched +HP:0032125 b cells class increased memory non proportion switched +HP:0000921 absent ribs +HP:0000921 decreased number rib +HP:0000921 missing ribs +HP:0000920 costochondral enlargement junction +HP:0000920 costochondral junction widened +HP:0000920 costochondral thickening +HP:0000920 costochondral enlarged junctions +HP:0000920 costochondral junction prominent +HP:0000920 costochondral junctions wide +HP:0008887 fat loss tissue +HP:0008887 adipose loss tissue +HP:0008883 deficiency growth mild prenatal +HP:0008883 growth intrauterine mild retardation +HP:0025203 palm sign tree +HP:0025203 caput medusae +HP:0025202 a apolipoprotein elevated iv level +HP:0025201 abnormal apolipoprotein level +HP:0025200 accumulation actin fiber filament muscle +HP:0025200 accumulation actin cells composed filaments muscle +HP:0200065 chorioretinal degeneration +HP:0000929 abnormality bones skull +HP:0000929 abnormality skull +HP:0031160 myelokathexis +HP:0025069 concomitant strabismus +HP:0025069 comitant strabismus +HP:0025068 incomitant strabismus +HP:0025066 corpuscular decreased mean volume +HP:0025066 erythrocyte reduced volume +HP:0025066 microcytosis +HP:0025066 decreased mcv +HP:0025065 abnormal mcv +HP:0025065 abnormal corpuscular mean volume +HP:0025065 abnormal erythrocyte volume +HP:0025064 haemorrhage thalamic +HP:0025064 hemorrhage thalamic +HP:0025063 abdomen scaphoid +HP:0025062 geophagia +HP:0025062 geophagy +HP:0025061 abscess splenic unifocal +HP:0025061 abscess splenic unilocular +HP:0025061 abscess solitary splenic +HP:0025060 abscess multifocal splenic +HP:0025060 abscess multilocular splenic +HP:0006671 atrial paroxysmal tachycardia +HP:0006906 calcification intracerebral +HP:0006673 function reduced systolic +HP:0006904 degeneration late onset spinocerebellar +HP:0006903 neuropathy peripheral +HP:0006901 impaired sensitivity thermal +HP:0006679 arteritis coronary granulomatous +HP:0031673 avrt orthodromic +HP:0031673 atrioventricular orthodromic reentrant tachycardia +HP:0031672 atrial flutter reverse typical +HP:0031671 atrial flutter typical +HP:0031670 continuous heart murmur +HP:0200118 b12 by caused deficiency intestinal malabsorption vitamin +HP:0200118 b12 malabsorption vitamin +HP:0200118 cyanocobalamin malabsorption +HP:0200119 acute hepatitis +HP:0200119 acute inflammation liver +HP:0031675 fascicular left tachycardia ventricular +HP:0031674 antidromic avrt +HP:0031674 antidromic atrioventricular reentrant tachycardia +HP:0200114 alkalosis metabolic +HP:0200116 atresia distal ileal +HP:0200117 infections lower recurrent respiratory tract upper +HP:0200111 absent head stapes +HP:0200113 aphalangy feet hands +HP:0006014 abnormally bones shaped wrist +HP:0006014 abnormally bones carpal shaped +HP:0006016 bone delayed epiphyseal maturation phalangeal +HP:0006016 bone delayed digital end maturation part +HP:0006016 delayed epiphyseal ossification phalangeal +HP:0006011 bone cube hand long shaped short +HP:0006011 cuboidal metacarpal +HP:0006012 bone broad hand long shaft +HP:0006012 metacarpal shaft widened +HP:0006019 decreased hinge joint space +HP:0006019 interphalangeal joint proximal reduced space +HP:0025100 abnormal hippocampus morphology +HP:0025100 abnormality hippocampus morphology +HP:0025101 dysgenesis hippocampal +HP:0025101 dysgenesis hippocampus +HP:0031838 presence xenobiotic +HP:0031838 a additives as be body can drugs environmental exposure fluids food hydrocarbons ingestion or pesticides pollutants presence result substances such tissues to xenobiotic +HP:0025103 nodule umbilicated +HP:0005289 anomaly nasolabial region +HP:0005289 malformation nasolabial region +HP:0005289 deformity nasolabial region +HP:0005289 abnormality nasolabial region +HP:0005288 anomaly nares +HP:0005288 malformation nares +HP:0005288 malformation nostrils +HP:0005288 abnormality nostrils +HP:0005288 deformity nares +HP:0005288 abnormality nares +HP:0005288 deformity nostrils +HP:0005285 absent bridge nose +HP:0005285 bridge missing nasal +HP:0005285 bridge missing nose +HP:0005285 agenesis bridge nasal +HP:0005285 absent bridge nasal +HP:0005285 agenesis bridge nose +HP:0025104 capillary malformation +HP:0005281 bridge hypotrophic nose +HP:0005281 bridge hypotrophic nasal +HP:0005281 bridge decreased nose size +HP:0005281 bridge hypoplastic nose +HP:0005281 bridge decreased nasal size +HP:0005281 bridge hypoplastic nasal +HP:0005281 bridge nasal small +HP:0005281 bridge nose small +HP:0005280 bridge flat nasal +HP:0005280 bridge depressed nasal +HP:0005280 bridge nasal retruded +HP:0005280 depressed nasal root +HP:0005280 bridge depressed nose +HP:0005280 flat nasal root +HP:0005280 bridge low nasal +HP:0005280 bridge concave nasal +HP:0005280 bridge nose retruded +HP:0005280 low nasal root +HP:0005280 bridge concave nose +HP:0005280 bridge flattened nasal +HP:0005280 bridge flat nose +HP:0005280 bridge depressed nasal root +HP:0025105 anemicus nevus +HP:0025105 anaemicus naevus +HP:0025106 nevus roseus +HP:0025107 congenita cutis marmorata telangiectatica +HP:0005254 chest on one side small +HP:0005254 chest on one side underdeveloped +HP:0005254 chest hypoplasia unilateral +HP:0011505 cystoid macular oedema +HP:0011505 cystoid edema macular +HP:0004395 malnutrition +HP:0031260 tibia triangular +HP:0031261 bladder polyp +HP:0031263 abnormal corpuscle morphology renal +HP:0031264 abnormal bowman capsule morphology +HP:0031264 abnormal capsule glomerular morphology renal +HP:0031265 abnormal morphology podocyte +HP:0031266 effacement foot podocyte process +HP:0031267 abnormal activation cd69 tcr upon upregulation +HP:0031268 activation cd69 decreased tcr upon upregulation +HP:0031269 abnormal activation cd25 tcr upon upregulation +HP:0004889 due episodes insufficiency intermittent muscle respiratory to weakness +HP:0010710 3 5 finger syndactyly +HP:0010710 fifth fourth third toes webbed +HP:0004736 ectopic fusion kidney with +HP:0004736 crossed ectopia fused renal +HP:0004881 breathing episodic slow +HP:0004881 breathing episodic under +HP:0004881 episodic hypoventilation +HP:0004734 cortical microcysts renal +HP:0004734 cortical microcysts +HP:0004734 cortical cysts multiple renal small +HP:0004734 cortical microcysts multiple renal +HP:0004732 acid clearance impaired renal uric +HP:0004885 breathing difficulty episodic +HP:0004885 distress episodic respiratory +HP:0004886 laryngeal stridor +HP:0004887 assisted failure requiring respiratory ventilation +HP:0001548 overgrowth +HP:0001548 general overgrowth +HP:0001548 fetal overgrowth +HP:0001548 generalized overgrowth +HP:0001549 abnormal ileum morphology +HP:0001549 abnormality ileum +HP:0001543 gastroschisis +HP:0001540 diastasis recti +HP:0001540 abdominal between gap large left muscles right +HP:0001541 abdomen accumulation fluid +HP:0001541 ascites +HP:0001547 abnormality cage rib +HP:0001544 prominent umbilicus +HP:0001544 belly button prominent +HP:0001544 navel prominent +HP:0001545 anteposition anus +HP:0001545 anteriorly anus displaced +HP:0001545 anteriorly anus placed +HP:0000149 female gonadoblastoma +HP:0000149 gonadoblastoma ovarian +HP:0005428 recurrent severe varicella +HP:0000419 anomaly nasal septum +HP:0000419 abnormality nose septum +HP:0000419 abnormality nasal septum +HP:0000419 anomaly nose septum +HP:0000418 decreased dorsum nose width +HP:0000418 dorsum narrow nasal +HP:0000418 dorsum nose thin +HP:0000418 narrow nasal ridge +HP:0000418 dorsum narrow nose +HP:0000418 nose pinched +HP:0000418 dorsum nasal thin +HP:0000418 decreased dorsum nasal width +HP:0000418 decreased nasal ridge width +HP:0000418 nasal ridge thin +HP:0000417 nose slender +HP:0005420 bacterial gram infections negative recurrent +HP:0000415 abnormality choanae +HP:0000414 nose potato +HP:0000414 bulbous nasal tip +HP:0000414 bulbous nose +HP:0000413 absent auditory canals +HP:0000413 atresia auditory canals external +HP:0000413 atretic auditory canals external +HP:0000413 absent canal ear +HP:0000413 atretic auditory canals +HP:0000413 atretic auditory canal external +HP:0000413 atresia auditory canal external +HP:0000413 acoustic atresia external meatus +HP:0000413 absent auditory canals external +HP:0000413 atretic auditory canal +HP:0000413 atresia auditory canal +HP:0000413 atresia auditory external meatal +HP:0000413 atresia auditory external meatus +HP:0005424 absent antibody response specific +HP:0000411 ears protruding +HP:0000411 ear prominent +HP:0000411 ear protruding +HP:0000411 ears prominent +HP:0000410 hearing loss mixed +HP:0000410 hearing impairment mixed +HP:0100629 cleft facial midline +HP:0100629 0 cleft facial number tessier +HP:0100629 14 cleft facial number tessier +HP:0100628 esophageal pouch +HP:0100628 diverticulum esophageal +HP:0100627 displacement meatus urethral +HP:0100627 displacement external orifice urethral +HP:0100627 displacement external male orifice urethral +HP:0100626 chronic failure liver +HP:0100626 chronic failure hepatic +HP:0100625 enlarged thorax +HP:0100625 cage rib wide +HP:0100625 thorax wide +HP:0100624 cavernosum corpus sclerosis +HP:0100623 abnormality cavernosum corpus +HP:0100622 maternal seizures +HP:0100621 dysgerminoma +HP:0100620 germinoma +HP:0008362 aplasia hallux hypoplasia +HP:0008362 absent big toe underdeveloped +HP:0008362 aplastic halluces hypoplastic +HP:0008362 absent big small toe +HP:0031848 cock gait walk +HP:0031849 inversion sleep wake +HP:0031844 euphoria +HP:0031845 abnormal libido +HP:0031846 femoral fracture +HP:0031846 femur fracture +HP:0031847 backward difficulty walking +HP:0031840 urine xenobiotic +HP:0031841 methadone positive test urine +HP:0031842 lymphangiectasis +HP:0031842 lymphangiectasia +HP:0031843 bradyphrenia +HP:0031843 slowness thought +HP:0006689 bacterial endocarditis +HP:0006689 endocarditis infective +HP:0030346 abnormal circulating follicle hormone level stimulating +HP:0010636 schizencephaly +HP:0040171 decreased levels serum testosterone +HP:0040171 level low serum testosterone +HP:0040171 levels low serum testosterone +HP:0040171 decreased level serum testosterone +HP:0040171 decreased testosterone +HP:0003715 myofibrillar myopathy +HP:0003715 changes myofibrillar +HP:0003148 acid elevated phosphatase serum +HP:0003148 acid elevated phosphatase +HP:0003149 hyperuricosuria +HP:0003149 acid high level uric urine +HP:0003469 dysmyelination peripheral +HP:0003144 increased serotonin serum +HP:0003145 adenosylcobalamin decreased +HP:0003145 adocbl decreased +HP:0003146 cholesterol circulating decreased level +HP:0003146 hypocholesterolemia +HP:0003140 inversion leads precordial right t wave +HP:0010186 bone outermost toe wide +HP:0010186 bone broad outermost toe +HP:0010186 broad distal phalanx toes +HP:0003142 excessive production purine +HP:0009902 ear helix notching +HP:0009902 helix notched +HP:0009902 cleft helix +HP:0010639 alkaline bone elevated origin phosphatase +HP:0010639 alkaline bone increased phosphatase serum specific +HP:0009903 conjunctival nodule +HP:0003710 cramps exercise muscle on +HP:0003710 cramps exertion muscle with +HP:0003710 cramps exertion muscle on +HP:0003710 cramps exercise induced muscle +HP:0003710 cramps exercise following muscle +HP:0003710 cramping exercise induced muscle +HP:0002367 hallucinations visual +HP:0002810 dumbbell metaphysis shaped +HP:0002810 bone dumbbell long portion shaped wide +HP:0002810 dumbbell metaphyses shaped +HP:0002813 arm bone differences leg or +HP:0002813 abnormality bone limb morphology +HP:0002813 abnormality limb +HP:0002813 abnormal bone limb shape +HP:0002812 coxa vara +HP:0002815 abnormality knee +HP:0002814 abnormality leg +HP:0002814 abnormality limb lower +HP:0002814 deformities limb lower +HP:0002817 abnormality arm +HP:0002817 abnormality limb upper +HP:0002816 genu recurvatum +HP:0002816 hyperextension knee +HP:0002816 back knee +HP:0002816 genu recurvata +HP:0010401 2nd affecting phalanx proximal symphalangism toe +HP:0010401 2nd bone fused innermost toe +HP:0002818 abnormality radius +HP:0010403 2nd bone duplication innermost toe +HP:0010403 2nd complete duplication partial phalanx proximal toe +HP:0010403 2nd duplication phalanx proximal toe +HP:0010403 duplication phalanx proximal second toe +HP:0010402 2nd phalanx proximal shaped toe triangular +HP:0010402 2nd bone innermost shaped toe triangular +HP:0010953 hydrocephalus noncommunicating +HP:0010952 fetal mild ventriculomegaly +HP:0010951 abnormality third ventricle +HP:0010406 2nd bullet middle phalanx shaped toe +HP:0010406 2nd bone bullet middle shaped toe +HP:0011851 hemopericardium +HP:0011850 parotitis +HP:0011853 effusion pericardial serous +HP:0011852 chylopericardium +HP:0011855 edema pharyngeal +HP:0011855 swelling throat +HP:0009908 crease earlobe +HP:0009908 anterior creases earlobe +HP:0009908 creases earlobe transverse +HP:0011854 hemoperitoneum +HP:0011854 hematoperitoneum +HP:0009909 earlobe uplifted +HP:0009909 lobe uplifted +HP:0009909 earlobe upturned +HP:0009909 fleshy lobules upturned +HP:0009909 earlobes upturned +HP:0009909 earlobes uplifted +HP:0011857 plasmacytoma +HP:0001036 parakeratosis +HP:0002448 encephalopathy progressive +HP:0002448 brain disease progressive +HP:0410221 animal anti antibody ige increased level protein +HP:0002997 abnormality ulna +HP:0031468 insecurity separation +HP:0031469 esteem low self +HP:0031466 functioning impairment personality +HP:0031467 affectivity negative +HP:0031464 blistering genital +HP:0031465 abnormal morphology vasa vasorum +HP:0031462 musculotendinous retraction +HP:0031463 esophageal papilloma squamous +HP:0031460 benign muscle neoplasm +HP:0031461 intramuscular myxoma +HP:0006243 dislocation phalangeal +HP:0002992 abnormality shankbone +HP:0002992 abnormality morphology tibia +HP:0002992 abnormality shinbone +HP:0006247 enlarged interphalangeal joints +HP:0006247 enlarged hinge joints +HP:0006248 limited movement wrist +HP:0001038 induced necrosis skin warfarin +HP:0001787 abnormal delivery +HP:0001787 complication delivery +HP:0012142 carcinoma cell pancreas squamous +HP:0012142 carcinoma cell pancreatic squamous +HP:0012143 abnormal megakaryocyte morphology +HP:0012143 abnormality cells lineage megakaryocyte +HP:0012146 abnormality factor von willebrand +HP:0012147 decreased factor von willebrand +HP:0012147 factor quantity reduced von willebrand +HP:0012144 abnormality monocyte morphology +HP:0012231 detachment exudative retinal +HP:0012231 detachment retinal serous +HP:0012148 lineage multiple myelodysplasia +HP:0012149 bilineage myelodysplasia +HP:0045036 abnormal concentration copper urinary +HP:0045037 abnormality jaw muscles +HP:0045034 acid aminoisobutyric elevated urinary +HP:0045035 concentration copper decreased urinary +HP:0045038 gastric lymphoma +HP:0045038 gastric lymphoma primary +HP:0045039 bones involving limbs osteolysis upper +HP:0000253 microcephaly progressive +HP:0000253 abnormally progressively skull small +HP:0000253 abnormally cranium progressively small +HP:0000253 microcephaly postnatal progressive +HP:0009638 hypoplastic phalanx proximal small thumb +HP:0009638 phalanges proximal short thumb +HP:0009638 phalanx proximal short thumb +HP:0009638 bone proximal short thumb +HP:0009630 broad phalanx proximal thumb +HP:0009630 bone broad innermost thumb +HP:0009631 bullet phalanx proximal shaped thumb +HP:0009631 bone bullet innermost shaped thumb +HP:0009632 bone curved innermost thumb +HP:0009632 curved phalanx proximal thumb +HP:0009633 defects osteolytic phalanx proximal thumb +HP:0009633 defect osteolytic phalanx proximal thumb +HP:0009634 bone density increase innermost thumb uneven +HP:0009634 patchy phalanx proximal sclerosis thumb +HP:0009635 phalanx synostosis thumb +HP:0009635 bone fusion thumb +HP:0009636 bone innermost thumb triangular +HP:0009636 phalanx proximal shaped thumb triangular +HP:0009636 phalanx proximal thumb triangular +HP:0009637 absent ossification phalanx proximal thumb +HP:0009637 absent phalanx proximal thumb +HP:0009637 absent bone innermost thumb +HP:0009637 aplasia phalanx proximal thumb +HP:0007621 extensor surfaces telangiectasia +HP:0012366 basilar invagination +HP:0007268 aprosencephaly 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hypoplastic phalanges small toe +HP:0100366 3rd phalanx short toe +HP:0100366 phalanx short third toe +HP:0100366 3rd bone short toe +HP:0008944 hypotrophy limb lower muscle +HP:0008944 amyotrophy distal limb lower +HP:0008944 degeneration limb lower +HP:0008944 amyotrophy leg lower +HP:0008944 atrophy limb lower +HP:0008944 atrophy distal limb lower muscle +HP:0100364 absent bones little toe +HP:0100364 5th aplasia phalanges toe +HP:0100364 absent bones pinky toe +HP:0100364 absent bones pinkie toe +HP:0007266 cerebral dysmyelination +HP:0007266 areas dysmyelination mri on +HP:0007266 brain dysmyelination +HP:0007266 demyelination dysmyelination matter white +HP:3000047 abnormal glossopharyngeal morphology nerve +HP:3000047 abnormality glossopharyngeal nerve +HP:0002330 drowsiness paroxysmal +HP:3000046 abnormality geniohyoid muscle +HP:0001047 atopic dermatitis +HP:0001047 baby eczema +HP:0001047 atopic chronic dermatitis +HP:0001730 hearing impairment progressive +HP:0001730 hearing loss progressive +HP:0001733 pancreatitis +HP:0001733 inflammation pancreatic +HP:0001732 abnormality pancreas +HP:0001732 disease pancreatic +HP:0001735 acute pancreatitis +HP:0001735 acute inflammation pancreatic +HP:0001042 axial high triradius +HP:0001737 cyst pancreatic +HP:0001737 cysts multiple pancreatic +HP:0001737 cysts pancreatic +HP:0001040 multiple pterygia +HP:0001739 abnormality nasopharynx +HP:0001738 exocrine insufficiency pancreatic +HP:0001738 insufficiency pancreatic +HP:0010779 large pelvis +HP:0010779 bone large pelvis +HP:0002849 center defect germinal lymphoid +HP:0002849 center germinal lack lymph nodes +HP:0002849 absence center germinal lymph node +HP:0100823 genital hernia +HP:0001049 absent affected creases dorsal joints over skin +HP:0001048 cavernous haemangioma +HP:0001048 blood collection dilated forms mass that vessels +HP:0001048 cavernous hemangioma +HP:0001048 angioma cavernous +HP:0011107 canker recurrent sores +HP:0011107 aphthous recurrent ulcers 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+HP:0500135 blood concentration low tryptophan +HP:0500134 hypertryptophanemia +HP:0500134 blood concentration high tryptophan +HP:0500134 blood increased tryptophan +HP:0500133 hypotyrosinemia +HP:0500133 blood concentration low tyrosine +HP:0500133 blood decreased tyrosine +HP:0500132 blood concentration low valine +HP:0500132 hypovalinemia +HP:0011102 atresia ileal +HP:0100829 galactorrhea +HP:0100829 breast flow from milk spontaneous +HP:0100829 galactorrhoea +HP:0012545 aldolase level reduced +HP:0100828 cell count increase t +HP:0100828 cell increase number t +HP:0100828 cell count increased t +HP:0012542 onychauxis +HP:0011100 atresia intestinal +HP:0012543 hemosiderinuria +HP:0030414 carcinoma cell tongue verrucous +HP:0030415 carcinoma sarcomatoid tongue +HP:0030415 carcinoma cell spindle tongue +HP:0030416 tumor vulva +HP:0030416 neoplasm vulvar +HP:0030416 neoplasm vulva +HP:0030417 carcinoma cell squamous vulval +HP:0030417 carcinoma cell squamous vulva +HP:0030410 carcinoma sebaceous +HP:0030410 carcinoma gland sebaceous +HP:0030411 adenocarcinoma jejunal +HP:0030412 adenocarcinoma ileal +HP:0030413 carcinoma cell squamous tongue +HP:0012541 cephalohematoma +HP:0012541 cephalohaematoma +HP:0030418 melanoma vulvar +HP:0030419 bartholin carcinoma gland +HP:0008009 eyelashes row triple +HP:0008009 eyelashes rows three +HP:0007841 amyloid deposits vitreous +HP:0007841 amyloid deposition humor vitreous +HP:0010987 abnormality cellular immune system +HP:0007840 ciliary eyelashes trichomegaly upper +HP:0007840 eyelashes increased length upper +HP:0007840 eyelashes long upper +HP:0010980 hyperlipoproteinemia +HP:0010981 blood fat lack +HP:0010981 hypolipoproteinemia +HP:0040008 aplasia bones facial +HP:0040008 bones development facial failure +HP:0040008 development facial failure skeleton +HP:0040008 aplasia facial skeleton +HP:0040008 absence bones facial +HP:0040008 agenesis bones facial +HP:0040008 bones facial missing +HP:0040009 hyperparakeratosis 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hyperthermia +HP:0001954 episodic fever +HP:0001954 body episodic increased temperature +HP:0001956 centripetal obesity +HP:0001956 obesity truncal +HP:0001951 ammonia episodic intoxication +HP:0001950 alkalosis respiratory +HP:0001953 diabetic ketoacidosis +HP:0001953 diabetic ketosis +HP:0001952 abnormal glucose tolerance +HP:0000141 abnormal absence menstruation +HP:0000141 amenorrhea +HP:0001959 polydipsia +HP:0001959 extreme thirst +HP:0001958 hypoglycemia nonketotic +HP:0002663 bone delayed end long maturation part +HP:0002663 delayed epiphyseal maturation +HP:0002663 delayed epiphyseal ossification +HP:0002663 delay epiphyseal ossification +HP:0002663 delayed epiphyses opacification +HP:0030951 fibrosis muscle skeletal +HP:0002762 exostoses multiple +HP:0030950 hypertension pulmonary venous +HP:0002661 due fractures injury painless to +HP:0030953 conjunctival hyperemia +HP:0030953 conjunctival injection +HP:0030953 conjunctival hyperaemia +HP:0030953 congestion conjunctival vascular +HP:0030480 abnormal adapted electroretinogram flicker light timing +HP:0000140 abnormalities menstrual +HP:0000140 abnormality cycle menstrual +HP:0030955 alcoholism +HP:0004646 bone hypotrophic nasal +HP:0004646 bone nasal small +HP:0004646 bone deficiency nasal +HP:0004646 bone nasal underdevelopment +HP:0004646 bone hypoplasia nasal +HP:0004646 bone decreased nasal size +HP:0030957 aneurysm septal ventricular +HP:0030957 dilatation septal ventricular +HP:0030956 abnormality cardiovascular electrophysiology system +HP:0000143 fistula rectovaginal +HP:0000143 abnormal between connection rectum vagina +HP:0000044 hypogonadism hypogonadotropic isolated +HP:0000044 hypogonadism hypogonadotropic +HP:0000044 hypogonadism hypogonadotrophic +HP:0000044 gonadotropins hypogonadism low secondary +HP:0010583 epiphyses ivory +HP:0010583 epiphyseal sclerosis +HP:0010583 bone density end increased part +HP:0030276 scrotum small +HP:0030276 scrotum underdeveloped +HP:0003779 antegonial mandible notching +HP:0003779 antegonial deep mandible notch +HP:0003779 antegonial large mandible notch +HP:0003778 decreased height mandibular ramus +HP:0003778 body mandible ramus short +HP:0003778 mandibular rami underdeveloped +HP:0003778 mandibular rami short +HP:0003778 mandibular ramus short +HP:0003778 decreased mandibular ramus size +HP:0000045 abnormality scrotum +HP:0003771 denticles pulp +HP:0003771 calcifications pulp +HP:0003771 false pulp stones +HP:0003771 denticles false +HP:0003771 denticles true +HP:0003771 pulp stones +HP:0003771 pulp stones true +HP:0003777 pili torti +HP:0003777 flattened hair twisted +HP:0003774 disease end renal stage +HP:0003774 chronic failure renal +HP:0003774 end failure renal stage +HP:0003774 endstage failure renal +HP:0003774 5 chronic disease kidney stage +HP:0030628 foveal hyporeflective macular oct on spaces subretinal +HP:0007018 attention deficit +HP:0007018 attention deficit disorder +HP:0007018 attention deficits +HP:0007018 attention deficit disorder hyperactivity +HP:0007018 attention childhood deficit disorder hyperactivity +HP:0100799 ear middle neoplasm +HP:0100799 ear middle tumor +HP:0100799 ear middle neoplasia +HP:0000145 septum transverse vaginal +HP:0000145 membrane transverse vaginal +HP:0008776 abnormal artery kidney +HP:0008776 abnormal artery morphology renal +HP:0008776 abnormality artery renal +HP:0000608 degeneration macular +HP:0000608 degeneration macular pigmented +HP:0000609 nerves optic underdeveloped +HP:0000609 hypoplastic nerves optic +HP:0000609 hypoplasia nerve optic +HP:0410069 blood glycol increased level propylene +HP:0410069 1 2 blood diol increased level propane +HP:0008777 abnormal cord morphology vocal +HP:0008777 abnormality cords vocal +HP:0410067 fucose increased l level urine +HP:0410066 acid hippuric increased level urine +HP:0410066 benzoylglycine increased level n urine +HP:0410065 benzoylglycine blood increased level n +HP:0410065 acid blood hippuric increased level +HP:0000601 decreased distance interpupillary +HP:0000601 hypotelorism ocular +HP:0000601 between decreased distance eyes +HP:0000601 abnormally close eyes +HP:0000601 between decreased distance eye sockets +HP:0000601 decreased orbital separation +HP:0000601 closely eyes spaced +HP:0000601 hypotelorism +HP:0410063 blood cells galactonate increased level red +HP:0410063 erythrocytes galactonate increased level +HP:0000607 periorbital wrinkling +HP:0000607 excess periorbital skin wrinkling +HP:0000607 periorbital wrinkles +HP:0000607 around eyes wrinkles +HP:0000607 periorbital rhytids +HP:0410061 galactitol increased level plasma +HP:0410060 d decreased level mannose urine +HP:0011439 anesthetic induced rhabdomylosis +HP:0011438 exposure maternal teratogenic +HP:0011433 hcg high maternal serum +HP:0011433 chorionic gonadotropin high maternal serum +HP:0100577 bladder inflammation urinary +HP:0100577 bladder cystitis urinary +HP:0011431 curvature fetal finger pinkie +HP:0011431 clinodactyly fetal fifth finger +HP:0011431 curvature fetal finger pinky +HP:0011431 curvature fetal finger little +HP:0011430 bone fetal hypoplasia nasal +HP:0011430 bone fetal nose underdeveloped +HP:0011437 autoimmune disease maternal +HP:0011436 abnormal maternal screening serum +HP:0011435 a low maternal papp serum +HP:0030279 hypoplastic l5 pedicle vertebral +HP:0011125 abnormality dermal melanosomes +HP:0011124 abnormality epidermal morphology +HP:0011127 eczema perioral +HP:0011127 around eczema mouth +HP:0007446 blistering palmoplantar +HP:0011121 abnormal morphology skin +HP:0011121 abnormal skin structure +HP:0011121 abnormality morphology skin +HP:0008770 compulsive obsessive traits +HP:0008770 compulsive obsessive trait +HP:0003559 hyperirritability muscle +HP:0003558 induced infection rhabdomyolysis viral +HP:0004277 bones broken hand +HP:0004277 bones fractured hand +HP:0007441 hyperpigmented hypopigmented macules +HP:0003555 fiber splitting +HP:0003555 fibre muscle splitting +HP:0003555 fibre splitting +HP:0003555 fiber muscle splitting +HP:0003554 2 atrophy fiber type +HP:0003554 2 atrophy fiber muscle type +HP:0004273 bones cupped hand portion wide +HP:0004273 bones cupped hand metaphysis +HP:0004273 bones cupped hand metaphyses +HP:0003552 muscle stiffness +HP:0004271 bones cortical hand thickening +HP:0100143 3rd distal epiphysis phalanx small toe +HP:0100143 3rd bone end outermost part small toe +HP:0009847 defects hand middle osteolytic phalanges +HP:0009846 curved hand middle phalanges +HP:0009846 bonds curved finger hand middle +HP:0009845 bullet hand middle phalanges shaped +HP:0009845 bones bullet finger middle shaped +HP:0009844 broad hand middle phalanges +HP:0009844 broad finger middle phalanx +HP:0009844 broad finger middle phalanges +HP:0009844 bones broad finger middle +HP:0009843 absent bone finger hand middle underdeveloped +HP:0009843 aplastic hypoplastic middle phalanx +HP:0009843 absent middle phalanges short to +HP:0009843 absent bone finger hand middle small +HP:0009843 absent middle phalanges short +HP:0009843 absent hypoplastic middle phalanges +HP:0009843 aplasia hand hypoplasia middle phalanges +HP:0009843 aplasia hypoplasia middle phalanges +HP:0009843 aplastic hypoplastic middle phalanges +HP:0100140 3rd distal epiphysis irregular phalanx toe +HP:0100140 3rd bone end irregular outermost part toe +HP:0009840 distal finger patchy phalanx sclerosis +HP:0009840 bone density finger increase outermost uneven +HP:0009840 distal hand patchy phalanges sclerosis +HP:0002604 blood enlarged near skin small vessels +HP:0002604 gastrointestinal telangiectasia +HP:0002605 hepatic necrosis +HP:0002607 bowel incontinence +HP:0002607 fecal incontinence +HP:0002607 anal incontinence +HP:0002607 bowel control loss +HP:0002600 hyporeflexia limbs lower +HP:0002600 areflexia hyporeflexia limbs lower +HP:0002601 big extensor muscles paresis toe +HP:0009849 finger middle phalanx symphalangism +HP:0009849 bone finger fused middle +HP:0009848 finger middle patchy phalanx sclerosis +HP:0009848 bone bones density finger hand increase middle uneven +HP:0009848 hand middle patchy phalanges sclerosis +HP:0030252 absence b cells mature +HP:0030253 cell defective proliferation t +HP:0030250 granulomatosis pulmonary +HP:0030251 absence b cells memory +HP:0030256 intestinal polyposis small +HP:0030257 ephelides genitalia +HP:0030257 freckled genitalia +HP:0030254 bed hemorrhage nail +HP:0030255 intestinal large polyposis +HP:0030258 melanosis penile +HP:0030258 genital increased pigmentation +HP:0030258 genitalia hyperpigmented +HP:0030259 genitalia hypopigmented +HP:0030259 decreased genital pigmentation +HP:0008714 stenosis ureterovesical +HP:0100550 rupture tendons +HP:0100550 ruptured tendon +HP:0100550 rupture tendon +HP:0008716 fistula urethrovaginal +HP:0008716 fistulae urethrovaginal +HP:0100552 neoplasm system tracheobronchial +HP:0100555 another body compared disproportionate growth one or part to uneven +HP:0100555 asymmetric growth +HP:0100554 hemihypertrophy limb upper +HP:0100554 arm one overgrowth +HP:0100557 asymmetric limb lower shortening +HP:0100557 hemiatrophy limb lower +HP:0100556 hemiatrophy +HP:0100556 asymmetric limb shortening +HP:0100556 body hemiatrophy +HP:0100559 discrepancy leg length +HP:0100559 asymmetry limb lower +HP:0100558 hemiatrophy limb upper +HP:0100558 asymmetric limb shortening upper +HP:0100558 hemihypotrophy limb upper +HP:0008718 dysplasia renal unilateral +HP:0032108 contrast mild reduction sensitivity +HP:0032108 contrast mildly reduced sensitivity +HP:0032109 contrast moderate reduction sensitivity +HP:0032109 contrast moderately reduced sensitivity +HP:0032104 oscillations saccadic +HP:0032104 oscillation saccadic +HP:0032105 macrosaccadic oscillations +HP:0032106 conjunctival icterus +HP:0032106 icterus scleral +HP:0032106 eyes whites yellowing +HP:0032106 conjunctiva yellow +HP:0032106 sclera yellow +HP:0032107 cell deficiency limbal stem +HP:0032100 abnormal doll eye reflex s +HP:0032101 infection unusual +HP:0032102 sign wilson +HP:0100089 2nd abnormality bone end middle part toe +HP:0100089 2nd abnormality epiphysis middle phalanx toe +HP:0100088 2nd abnormality bone end outermost part toe +HP:0100088 2nd abnormality distal epiphysis phalanx toe +HP:0100083 bone density end increased part pinkie toe +HP:0100083 5th epiphyses ivory toe +HP:0100083 bone density end increased part pinky toe +HP:0100083 bone density end increased little part toe +HP:0100082 5th epiphyses irregular toe +HP:0100082 bone end irregular part pinkie toe +HP:0100082 bone end irregular part pinky toe +HP:0100082 bone end irregular little part toe +HP:0100081 bone end fragmentation part pinky toe +HP:0100081 bone end fragmentation little part toe +HP:0100081 bone end fragmentation part pinkie toe +HP:0100081 5th epiphyses fragmentation toe +HP:0100080 bone end enlarged part pinky toe +HP:0100080 bone end enlarged part pinkie toe +HP:0100080 5th enlarged epiphyses toe +HP:0100080 bone end enlarged little part toe +HP:0100087 5th epiphyses toe triangular +HP:0100087 bone end part pinkie toe triangular +HP:0100087 bone end part pinky toe triangular +HP:0100087 bone end little part toe triangular +HP:0100086 bone calcifications end part pinkie speckled toe +HP:0100086 5th epiphyses stippling toe +HP:0100086 bone calcifications end little part speckled toe +HP:0100086 bone calcifications end part pinky speckled toe +HP:0007380 facial telangiectasia +HP:0007380 facial telangiectatic vessels +HP:0100084 5th pseudoepiphyses toe +HP:0025269 attack panic +HP:0025268 stammering +HP:0025268 stuttering +HP:0025265 stiffness toe +HP:0025265 stiff toe +HP:0025264 ankle stiff +HP:0025264 ankle stiffness +HP:0025267 snore +HP:0025267 snoring +HP:0025267 snoring symptoms +HP:0025267 snores +HP:0025266 cervical osteoarthritis +HP:0025261 finger stiffness +HP:0025261 finger stiff +HP:0025260 stiffness wrist +HP:0025260 stiff wrist +HP:0025263 knee stiff +HP:0025263 knee stiffness +HP:0025262 hip stiff +HP:0025262 hip stiffness +HP:0012779 hearing impairment transient +HP:0012778 astrocytic hamartoma retinal +HP:0031971 bulge septal subaortic ventricular +HP:0012771 arm increased span +HP:0012770 arm reduced span +HP:0012773 lower ratio reduced segment to upper +HP:0012772 abnormal lower ratio segment to upper +HP:0012775 iris stellate +HP:0031200 casts hyaline +HP:0012777 neoplasm retinal +HP:0012776 abnormal body ciliary morphology +HP:0012776 abnormality body ciliary +HP:0000022 abnormality genitalia internal male +HP:0031973 cup disc increased ratio to vertical +HP:0005346 abnormal expression facial +HP:0031974 0 6 cup disc increased ratio to vertical +HP:0031975 0 7 cup disc increased ratio to vertical +HP:0025081 darier s sign +HP:0025080 hyperkeratosis orthokeratotic +HP:0025083 content dermal desmosine elevated +HP:0025082 abnormal cutaneous elastic fiber morphology +HP:0025085 bloody diarrhea +HP:0025085 blood stool +HP:0025085 bloody bowel movement +HP:0025085 bloody diarrhoea +HP:0025085 bloody stool +HP:0025084 folliculitis +HP:0025087 delayed recoil skin stretching upon +HP:0025086 bloody diarrhea mucoid +HP:0025086 bloody diarrhoea mucoid +HP:0025089 stercoraceous vomiting +HP:0025089 feculent vomiting +HP:0025089 fecal vomiting +HP:0025088 onychomadesis +HP:0031205 acid activity leukocyte lipase reduced +HP:0031205 acid activity lipase lysosomal reduced +HP:0006657 first hypoplastic ribs +HP:0006657 first hypoplasia ribs +HP:0006657 first hypoplastic rib +HP:0006657 first rib underdeveloped +HP:0006657 first rib small +HP:0006655 abnormalities rib segmentation +HP:0006385 limbs lower short +HP:0006385 legs short +HP:0006384 club distal femora shaped +HP:0006384 club end outermost shaped thighbone +HP:0006384 club distal femur shaped +HP:0006387 distal femoral metaphysis wide +HP:0006387 broad outermost portion thighbone wide +HP:0006387 distal femur metaphysis wide +HP:0006386 distal epiphyses hypoplastic radial +HP:0006381 fibula rudimentary +HP:0006381 absent bone calf small to +HP:0006381 absent fibulae rudimentary to +HP:0006381 absent fibula small to +HP:0006380 inability knee straighten to +HP:0006380 contractures knees +HP:0006380 deformity flexion knee +HP:0006380 contracture flexion knee +HP:0006380 contracture flexion knees +HP:0006380 contractures knee +HP:0006380 at both contractures flexion knees +HP:0006380 contractures flexion knees +HP:0006380 contracture knee +HP:0006380 contractures flexion knee +HP:0006383 bones bowing long progressive +HP:0006389 flexion knee limited +HP:0007928 abnormal evoked flash potentials visual +HP:0007929 detachment peripheral retinal +HP:0012888 abnormality cervix uterine +HP:0003427 muscle thenar weakness +HP:0007922 fibers hypermyelinated nerve retinal +HP:0007922 retinal striation +HP:0030810 abnormal physiology tongue +HP:0030729 frontoethmoidal meningocele +HP:0030729 frontoethmoid meningocele +HP:0007924 decrease sharpness slow vision +HP:0007924 acuity decrease slow visual +HP:0007924 acuity decreased progressive slowly visual +HP:0007924 acuity deterioration subacute visual +HP:0007925 aplasia duct lacrimal +HP:0007925 absent duct tear +HP:0030726 cyst neurenteric spinal +HP:0030724 central cyst nervous system +HP:0031615 hypopyon +HP:0031614 coloboma inferior retinal +HP:0031616 anterior chamber flare +HP:0031611 hemorrhage ilm sub +HP:0031611 haemorrhage inner limiting membrane sub +HP:0031611 hemorrhage inner limiting membrane sub +HP:0031611 haemorrhage ilm sub +HP:0031610 dislocation recurrent shoulder +HP:0031610 dislocation multiple shoulder +HP:0031613 chorioretinal coloboma inferior +HP:0030811 painful tongue +HP:0030811 pain tongue +HP:0030722 ectopic liver +HP:0006035 2 5 bones cone digital end part shaped to +HP:0006035 2 5 cone epiphyses phalanges shaped to +HP:0031619 2 anterior chamber flare grade +HP:0031618 1 anterior chamber flare grade +HP:0030720 cyst septal subchorionic +HP:0030721 tetraphocomelia +HP:0007510 aplasia dermal focal hypoplasia +HP:0003548 abnormally accumulations mitochondria shaped subsarcolemmal +HP:0008929 asymmetric short stature +HP:0006834 at developmental onset seizures stagnation +HP:0001388 jointedness loose +HP:0001388 loosejointedness +HP:0001388 joint laxity +HP:0001388 joints lax +HP:0001388 laxity ligamentous +HP:0001388 joint laxity ligamentous +HP:0001388 instability joint +HP:0001382 hypermobility joint +HP:0001382 hyperextensible joints +HP:0001382 double jointed +HP:0001382 increased joints mobility +HP:0001382 hyperextensibility joint +HP:0001382 flexible joints +HP:0001382 extensible joints +HP:0031970 abnormal blood nitrogen urea +HP:0001384 abnormality hip joints +HP:0001384 abnormality hip joint +HP:0001385 dysplasia hip +HP:0001385 abnormal formation hip +HP:0001386 joint swelling +HP:0001387 joint stiffness +HP:0001387 joint stiff +HP:0001387 joints stiff +HP:0000047 hypospadias +HP:0000047 hypospadia +HP:0000389 chronic media otitis +HP:0000389 chronic ear infection +HP:0000389 chronic ear infection middle +HP:0000389 chronic ear infections middle +HP:0000388 ear infection middle +HP:0000388 media otitis +HP:0000387 absent earlobe +HP:0000387 absent ear lobes +HP:0000387 ears lobeless +HP:0000385 earlobes hypoplastic +HP:0000385 earlobe small +HP:0000385 earlobes small +HP:0000385 hypoplastic lobules +HP:0000384 fibroepithelial polyp preauricular +HP:0000384 preauricular tag +HP:0000384 periauricular skin tag +HP:0000384 preauricular skin tags +HP:0000384 ear tag +HP:0000384 acrochordon preauricular +HP:0000384 ear front skin tag +HP:0000384 preauricular skin tag +HP:0000384 cheek on posterior skin tag +HP:0000384 preauricular tags +HP:0000383 malformation periauricular region +HP:0000383 abnormality around ear region +HP:0000383 abnormality periauricular region +HP:0000383 anomaly periauricular region +HP:0000383 deformity periauricular region +HP:0000381 ankylosis stapes +HP:0008153 hypokalemic paresis periodic +HP:0008150 during elevated infections serum transaminases +HP:0008151 prolonged prothrombin time +HP:0008155 mucopolysacchariduria +HP:0008158 hyperapobetalipoproteinemia +HP:0003422 abnormal segmentation spinal +HP:0003422 defect segmentation vertebral +HP:0009542 2nd abnormality bone finger outermost +HP:0009542 2nd abnormality distal finger phalanx +HP:0009542 abnormality finger index phalanx terminal +HP:0009543 2nd abnormality finger middle phalanx +HP:0009543 abnormal bone finger index middle +HP:0009540 camptodactyly finger index +HP:0009540 camptodactyly finger second +HP:0009540 2nd contracture finger interphalangeal joint proximal +HP:0009540 2nd camptodactyly finger +HP:0009541 2nd abnormality finger phalanges +HP:0009541 abnormal bones finger index +HP:0009546 2nd finger phalanges shaped triangular +HP:0009546 finger index phalanges triangular +HP:0009546 bones finger index triangular +HP:0009547 bones finger index wide +HP:0009547 2nd broad finger phalanges +HP:0009547 broad finger index phalanges wide +HP:0009544 2nd abnormality finger phalanx proximal +HP:0009544 abnormal bone finger index innermost +HP:0009545 2nd finger symphalangism +HP:0009545 bones finger fused index +HP:0009545 finger index phalanges symphalangism +HP:0004719 hyperechogenic kidneys +HP:0009548 2nd bullet finger phalanges shaped +HP:0009548 bones bullet finger index shaped +HP:0009549 2nd curved finger phalanges +HP:0009549 bones curved finger index +HP:0030889 intestine shortened small +HP:0030889 bowel short +HP:0030888 c3 factor nephritic positivity +HP:0030887 apoptosis increased lymphocyte +HP:0030886 abnormal apoptosis lymphocyte +HP:0001566 between central diastema incisors maxillary +HP:0001566 between front gap teeth upper +HP:0001566 between central gap incisors upper wide +HP:0001566 between diastema incisors upper +HP:0001566 incisors spaced upper widely +HP:0001566 between diastema front teeth upper +HP:0001566 central incisors separated superior +HP:0001566 central incisors maxillary spaced widely +HP:0001566 central gap incisor +HP:0001566 central diastasis incisors +HP:0001566 central incisors upper wide +HP:0030884 feeding gastro infancy jejunal tube +HP:0030884 feeding gastrojejunal infancy tube +HP:0030883 acetabular femoral impingement +HP:0030883 femoroacetabular impingement +HP:0030882 arterial coronary dilatation +HP:0030882 artery coronary ectasia +HP:0030882 aneurysm artery coronary +HP:0030882 artery coronary dilatation +HP:0030881 impingement shoulder +HP:0001563 fetal polyuria +HP:0005403 cell count low t +HP:0005403 cell count decrease t +HP:0005403 cell decrease number t +HP:0005403 lymphocytopenia t +HP:0005403 cells circulating decreased numbers t +HP:0005403 cells number reduced t +HP:0000162 retraction tongue +HP:0000162 glossoptosis +HP:0000162 lingual retraction +HP:0000162 displacement posterior tongue +HP:0005401 candida frequent infections +HP:0005401 candida infections recurrent +HP:0005400 motility neutrophil reduction +HP:0005407 cd4 cells decreased positive proportion t +HP:0005407 abnormality cd4 cells t +HP:0005407 cd4 cell lymphopenia t +HP:0005406 episodes impetigo recurrent +HP:0005406 dermatitis episodes infectious recurrent +HP:0005406 bacterial infections recurrent skin +HP:0005406 cutaneous infections pyogenic recurrent +HP:0005406 infections pyogenic recurrent skin +HP:0000164 abnormality dentition +HP:0000164 abnormalities dental +HP:0000164 abnormal teeth +HP:0000164 dental problem +HP:0000164 abnormalities tooth +HP:0000164 abnormal dentition +HP:0000164 anomalies dental +HP:0000164 abnormality dental +HP:0000164 dental problems +HP:0000164 abnormality teeth +HP:0000169 fibromatosis gingival +HP:0000169 fibromatosis gingival hereditary +HP:0000169 fibroma gingival +HP:0000169 gingival hyperplasia idiopathic +HP:0000169 fibrous gingival nodules +HP:0000168 abnormality gingiva +HP:0000168 abnormality gingival +HP:0000168 abnormality gums +HP:0025245 cutaneous cyst +HP:0011330 metopic synostosis +HP:0011330 craniosynostosis metopic suture +HP:0011330 craniosynostosis metopic +HP:0011331 atrophy hemifacial +HP:0011331 decrease face one side size +HP:0011331 atrophy face one side +HP:0011331 face one shrinking side +HP:0011331 decrease face half size +HP:0011331 face half shrinking +HP:0011331 facial hemiatrophy +HP:0011331 atrophy face half +HP:0011332 hemifacial hypoplasia +HP:0011332 hemifacial microsomia +HP:0011332 decreased face one side size +HP:0011332 decreased face half size +HP:0011333 facial paresis partial unilateral +HP:0011333 asymmetric crying face +HP:0011333 angula depressor hypoplasia muscle oris +HP:0011334 compression facial shape +HP:0011334 deformation facial shape +HP:0011334 distortion facial shape +HP:0011335 forehead hairy +HP:0011335 forehead hirsute +HP:0011335 frontal hirsutism +HP:0011336 defect skin temporal +HP:0011336 bitemporal forceps marks +HP:0011337 abnormality mouth size +HP:0011337 anomaly mouth size +HP:0011338 mouth shape unusual +HP:0011338 abnormality mouth shape +HP:0011338 anomaly mouth shape +HP:0011339 abnormality lip upper vermillion +HP:0011339 deformity lip upper vermillion +HP:0011339 abnormality lip part red upper +HP:0011339 lip malformation upper vermillion +HP:0011339 anomaly lip upper vermillion +HP:0025242 blot dot haemorrhage retinal +HP:0025242 heme retinal round +HP:0025242 blot dot hemorrhage retinal +HP:0009094 alveolar cleft lower process +HP:0009094 alveolar lower notch process +HP:0009094 cleft gingiva mandibular +HP:0009094 alveolar mandibular notch process +HP:0009094 cleft gingiva lower +HP:0009094 alveolar lower notch ridge +HP:0009094 gum lower notch ridge +HP:0009094 cleft gum lower ridge +HP:0009094 alveolar mandibular notch ridge +HP:0009094 alveolar cleft lower ridge +HP:0009094 alveolar cleft mandibular process +HP:0025241 feathered heme retinal +HP:0025241 heme linear retina +HP:0025241 flame hemorrhage retinal shaped +HP:0025241 flame haemorrhage retinal shaped +HP:0009092 alveolar hypertrophy jaw process progressive +HP:0009092 gum increasing ridge size +HP:0009092 alveolar hypertropy progressive ridge +HP:0009092 gum increasing overgrowth ridge +HP:0025240 heme preretinal +HP:0025240 haemorrhage preretinal +HP:0025240 hemorrhage preretinal +HP:0009098 candidiasis chronic oral +HP:0009098 chronic oral thrush +HP:0009099 central cleft palate +HP:0009099 cleft median palate +HP:0009099 cleft midline palate +HP:0003785 acid csf decreased homovanillic +HP:0002983 micromelia +HP:0002983 limbs or shorter smaller than typical +HP:0025538 edema palmar +HP:0003782 eunuchoid habitus +HP:0003783 abducted externally legs rotated +HP:0031826 abnormal reflex +HP:0031827 abdominal absent reflex +HP:0031824 hepatic mastocytosis +HP:0031825 freezing gait +HP:0031822 elevated guanine hypoxanthine level phosphoribosyltransferase +HP:0031822 elevated gmp level pyrophosphorylase +HP:0031822 6 elevated level mercaptopurine phosphoribosyltransferase +HP:0031822 6 elevated hydroxypurine level phosphoribosyltransferase +HP:0031823 gmp level pyrophosphorylase reduced +HP:0031823 guanine hypoxanthine level phosphoribosyltransferase reduced +HP:0031823 6 hydroxypurine level phosphoribosyltransferase reduced +HP:0031823 6 level mercaptopurine phosphoribosyltransferase reduced +HP:0031820 decreased whr +HP:0031820 decreased hip ratio waist +HP:0031820 decreased hip ratio to waist +HP:0031821 abnormal guanine hypoxanthine level phosphoribosyltransferase +HP:0031821 abnormal gmp level pyrophosphorylase +HP:0031821 abnormal gprt level +HP:0031821 6 abnormal hydroxypurine level phosphoribosyltransferase +HP:0003781 mouth watery +HP:0003781 mouth watering +HP:0003781 hypersalivation +HP:0003781 excessive salivation +HP:0003781 oversalivation +HP:0003781 ptyalism +HP:0003781 excessive production saliva +HP:0031828 abnormal reflex superficial +HP:0031829 absent cremasteric reflex +HP:0031829 absent cremaster reflex +HP:0032085 aortic disorganization elastic fiber +HP:0002982 bowing tibia +HP:0002982 bowing tibial +HP:0002982 bowed shankbone +HP:0002982 bowed shinbone +HP:0002982 bowed tibia +HP:0032087 aortic collapse laminar medial +HP:0031976 0 8 cup disc increased ratio to vertical +HP:0032082 accumulation extracellular matrix mucoid translamellar +HP:0011842 abnormality morphology skeletal +HP:0011842 abnormally shaped skeletal +HP:0011843 abnormality physiology skeletal +HP:0011840 abnormality cell physiology t +HP:0011841 flutter ventricular +HP:0011846 osteoblastoma +HP:0011847 bone cell giant tumor +HP:0011844 abnormal appendicular morphology skeleton +HP:0011845 2nd bone foot long short +HP:0011845 metatarsal second short +HP:0011594 aortic arch diverticulum kommerell retroesophageal right with +HP:0011595 aortic arch artery left retroesophageal right subclavian with +HP:0011848 abdominal colic +HP:0011849 abnormal bone maturation +HP:0011849 abnormal bone ossification +HP:0011590 aortic arch double +HP:0011591 aortic arch artery cervical left origin right subclavian with +HP:0011592 aortic arch artery isolated left subclavian with +HP:0011593 diverticulum kommerell +HP:0011593 aortic arch diverticulum kommerell left retroesophageal with +HP:0003126 proteinuria tubular +HP:0003126 low molecular proteinuria weight +HP:0003127 hypocalciuria +HP:0003127 calcium levels low urine +HP:0003124 cholesterol high +HP:0003124 cholesterol elevated serum +HP:0003124 hypercholesterolemia +HP:0003124 cholesterol increased total +HP:0003124 cholesterol elevated total +HP:0003125 deficiency factor viii +HP:0003125 activity factor reduced viii +HP:0003121 contractures limb +HP:0003121 contracture joint limb +HP:0003128 acidosis lactic +HP:0003128 lacticacidemia +HP:0003128 hyperlacticacidemia +HP:0003128 body increased lactate +HP:0003128 lacticacidosis +HP:0003128 acidemia lactic +HP:0002839 bladder dysfunction sphincter urinary +HP:0002839 disturbances sphincter +HP:0002839 disturbance sphincter +HP:0008936 axial hypotonia +HP:0008936 hypotonia muscular trunk +HP:0008936 low muscle tone trunk +HP:0008936 hypotonia truncal +HP:0004861 anemia macrocytic refractory +HP:0002833 appendicular bones cystic lesions lytic +HP:0002833 angiomatosis bone cystic +HP:0002832 calcific discrete stippling +HP:0002832 calcific stippling +HP:0002831 long tailbone +HP:0002831 coccyx long +HP:0002837 bronchitis recurrent +HP:0002836 bladder exstrophy +HP:0002836 ectopia vesicae +HP:0002835 aspiration +HP:0002835 aspiration pulmonary +HP:0002834 bone flared metaphysis thigh +HP:0002834 femoral flared metaphysis +HP:0010423 duplication partial phalanx proximal second toe +HP:0010423 2nd duplication partial phalanx proximal toe +HP:0010423 2nd bone duplication innermost partial toe +HP:0008264 bodies inclusion neutrophil +HP:0010421 2nd bone duplication outermost toe +HP:0010421 2nd complete distal duplication partial phalanx toe +HP:0010421 2nd distal duplication phalanx toe +HP:0010420 2nd distal phalanx shaped toe triangular +HP:0010420 2nd bone outermost shaped toe triangular +HP:0010427 2nd bone duplication middle partial toe +HP:0010427 2nd duplication middle partial phalanx toe +HP:0010426 2nd complete duplication middle phalanx toe +HP:0010426 2nd bone complete duplication middle toe +HP:0010425 2nd distal duplication partial phalanx toe +HP:0010425 2nd bone duplication outermost partial toe +HP:0008265 defect lysine mitochondrial transport +HP:0010429 2nd bones complete duplication toe +HP:0010429 2nd complete duplication phalanges toe +HP:0010428 2nd duplication partial phalanx toe +HP:0010428 2nd bone duplication partial toe +HP:0006851 multiple nerve neurofibromas root spinal symmetric +HP:0006851 nerve neurofibromas root spinal symmetric +HP:0100643 abnormality color nail +HP:0100643 dyschromia nail +HP:0100643 abnormality colour nail +HP:0011625 defects multiple muscular septal ventricular +HP:0011625 cheese defect septal swiss ventricular +HP:0100645 bladder hernia +HP:0100645 bladder dropped +HP:0100645 cystocele +HP:0100645 bladder prolapsed +HP:0008261 adenoma cell islet pancreatic +HP:0012229 cerebrospinal fluid pleocytosis +HP:0012229 csf pleocytosis +HP:0012229 count csf increased leukocyte +HP:0100647 basedow morbus +HP:0100647 disease graves +HP:0006850 pons underdeveloped ventral +HP:0006850 hypoplasia pons ventral +HP:0008263 defect iodide organification oxidation thyroid +HP:0010243 abnormality bone end finger outermost part +HP:0010243 abnormality distal epiphyses finger phalanx +HP:0010242 absent bones innermost +HP:0010242 aplasia hand phalanges proximal +HP:0010242 absent phalanges proximal +HP:0011128 acute esophageal necrosis +HP:0000789 infertility +HP:0030568 0 3 acuity best corrected logmar visual +HP:0010247 bracket distal epiphyses hand phalanges +HP:0010247 bones bracket end hand outermost part shaped +HP:0009019 facial fat loss progressive +HP:0009019 atrophy facial fat +HP:0009019 adipose atrophy facial tissue +HP:0009019 adipose face from loss progressive subcutaneous tissue +HP:0009019 adipose facial loss progressive subcutaneous tissue +HP:0009019 adipose facial loss progressive tissue +HP:0009019 facial fat wasting +HP:0031441 abnormal annulus morphology tricuspid valve +HP:0031442 abnormal chordae morphology tendinae tricuspid +HP:0031443 abnormal leaflet morphology tricuspid valve +HP:0031444 annulus dilatation tricuspid +HP:0031445 mucosa nodule oral +HP:0031446 erosion mucosa oral +HP:0031447 freckling penile +HP:0031448 herpetiform vesicles +HP:0031449 hemangioma perineal +HP:0010716 3rd 5th toes webbed +HP:0010716 3 5 syndactyly toe +HP:0010719 abnormality hair volume +HP:0010719 abnormality consistency hair +HP:0010719 abnormality curl hair pattern +HP:0010719 abnormality hair texture +HP:0006852 episodic generalized hypotonia +HP:0004575 facet fusion joints midcervical +HP:0009016 hypoplasia limb muscle upper +HP:0009016 limb muscles underdevelopment upper +HP:0009011 anterior hypoplasia muscle serratus +HP:0012164 asterixis +HP:0012165 oligodactyly +HP:0012166 compulsive picking skin +HP:0012166 picking skin +HP:0012166 dermatillomania +HP:0012167 trichotillomania +HP:0012167 hair pulling +HP:0012160 artery carotid dissection internal intracranial +HP:0012161 artery carotid dissection external +HP:0012162 artery carotid common dissection +HP:0012163 aneurysm artery carotid +HP:0012163 artery carotid dilatation +HP:0009013 absence gluteal muscles +HP:0012168 banging head +HP:0012169 biting self +HP:0004440 coronal craniosynostosis +HP:0004440 coronal suture synostosis +HP:0004440 coronal craniosynostosis suture +HP:0045014 hypolipidemia +HP:0010939 anomaly bones nasal +HP:0010939 bones deformity nasal +HP:0010939 bones malformation nasal +HP:0010939 abnormality bone nasal +HP:0045016 acids chain elevated fatty long serum +HP:0045016 acids chain fatty increased long serum +HP:0045017 heart left malformation +HP:0045010 abnormality nerves peripheral +HP:0045011 bicarbonate concentration decreased urine +HP:0045012 catecholamine concentration decreased urinary +HP:0010938 deformity external nose +HP:0010938 abnormality external nose +HP:0010938 anomaly external nose +HP:0010938 external malformation nose +HP:0012225 oligodontia primary teeth +HP:0012225 development failure primary some teeth +HP:0012225 anodontia deciduous partial teeth +HP:0012225 deciduous development failure some teeth +HP:0012225 deciduous fewer normal teeth than +HP:0012225 milk missing some teeth +HP:0012225 anodontia partial primary teeth +HP:0012225 missing primary some teeth +HP:0012225 deciduous decreased number teeth +HP:0012225 fewer normal primary teeth than +HP:0012225 baby fewer normal teeth than +HP:0012225 baby missing some teeth +HP:0012225 decreased number primary teeth +HP:0012225 decreased milk number teeth +HP:0012225 baby decreased number teeth +HP:0045018 double eyebrow partial +HP:0045018 duplication eyebrows partial +HP:0003529 calcium increased independent parathormone reabsorption renal tubular +HP:0030069 central lymphoma nervous primary system +HP:0030069 cns lymphoma primary +HP:0030068 esthesioneuroblastoma olfactory +HP:0030061 neoplasm neuroectodermal +HP:0030060 neoplasm nervous tissue +HP:0030063 neoplasm neuroepithelial +HP:0030062 craniopharyngioma +HP:0030065 neuroectodermal primitive tumor +HP:0012345 abnormal glycosylation +HP:0012346 abnormal glycosylation protein +HP:0012347 abnormal glycosylation linked n protein +HP:0008963 muscle tibialis weakness +HP:0008962 calf hypoplasia muscle +HP:0008962 calf hypoplastic muscles +HP:0008962 calf muscles underdeveloped +HP:0007240 ataxia gait progressive +HP:0100348 camptodactyly second toe +HP:0100348 2nd camptodactyly toe +HP:0100348 2nd contracture interphalangeal joint proximal toe +HP:0100349 3rd contracture interphalangeal joint proximal toe +HP:0100349 3rd camptodactyly toe +HP:0007717 chronic conjunctivitis irritative +HP:0002308 chiari malformation +HP:0002308 arnold chiari malformation +HP:0100344 2nd deviation fibular toe +HP:0100345 2nd deviation tibial toe +HP:0100346 5th deviation fibular toe +HP:0100347 5th deviation tibial toe +HP:0100340 4th deviation fibular toe +HP:0100341 4th deviation tibial toe +HP:0100342 3rd deviation fibular toe +HP:0100343 3rd deviation tibial toe +HP:0001117 decrease sudden vision +HP:0001117 central loss sudden visual +HP:0001117 acuity loss sudden visual +HP:0012223 ruptured spleen +HP:0012223 rupture splenic +HP:0003526 acid crystalluria orotic +HP:0001116 coloboma macular +HP:0004207 abnormality finger pinkie +HP:0004207 5th abnormal finger morphology +HP:0004207 abnormality finger little +HP:0004207 abnormality finger pinky +HP:0004207 5th abnormality finger +HP:0001719 double outlet right ventricle +HP:0001718 mitral stenosis +HP:0001718 mitral stenosis valve +HP:0003524 activity decreased methionine synthase +HP:0003524 deficiency methionine synthase +HP:0003524 activity methionine reduced synthase +HP:0010655 calcifications epiphyseal punctate +HP:0010655 epiphyses stippling +HP:0010655 epiphyses stippled +HP:0010655 epiphyseal stippling +HP:0010655 bone calcifications end part speckled +HP:0001713 abnormality cardiac ventricle +HP:0001713 abnormal cardiac morphology ventricle +HP:0001712 hypertrophy left ventricular +HP:0001712 hypertrophy left ventricular wall +HP:0001712 heart hypertrophy left ventricle +HP:0001711 abnormality left ventricle +HP:0001711 abnormal heart left morphology ventricle +HP:0001711 abnormality left ventricular +HP:0001711 abnormal left morphology ventricle +HP:0001710 conotruncal defect +HP:0001710 conotruncal defects heart +HP:0001717 artery calcification coronary +HP:0001716 parkinson syndrome white wolff +HP:0001714 hypertrophy ventricular +HP:0030054 fibrosis perifollicular +HP:0012356 decreased glycosylation linked mannosylation n protein +HP:0030056 hair uncombable +HP:0000534 abnormality eyebrow +HP:0000534 abnormal eyebrow morphology +HP:0030057 antibody autoimmune positivity +HP:0030050 narcolepsy +HP:0030051 gait tip toe +HP:0030051 on tiptoes walking +HP:0000537 epicanthus inversus +HP:0030052 freckling inguinal +HP:0030052 freckles groin region +HP:0030478 abnormal adapted amplitude bright dark electroretinogram flash +HP:0030479 abnormal adapted amplitude electroretinogram flicker light +HP:0030476 abnormal adapted amplitude dark dim electroretinogram flash +HP:0030477 abnormal adapted bright dark electroretinogram flash timing +HP:0030474 adapted dark electroretinogram undetectable +HP:0030475 abnormal adapted dark dim electroretinogram flash timing +HP:0030472 abnormal adapted electroretinogram flash light single +HP:0030473 30hz abnormal adapted erg flicker light +HP:0030473 30hz abnormal adapted electroretinogram flicker light +HP:0030473 abnormal adapted erg flicker light +HP:0030473 abnormal adapted electroretinogram flicker light +HP:0030470 abnormal adapted bright dark electroretinogram flash +HP:0030471 abnormal adapted dark dim electroretinogram flash +HP:0100353 3rd contracture distal interphalangeal joint toe +HP:0012600 abnormal chloride concentration urine +HP:0000532 abnormal chorioretinal morphology +HP:0000532 abnormality chorioretinal +HP:0000533 chorioretinal thinning +HP:0000533 atrophy chorioretinal +HP:0007727 corneal epithelium opacification +HP:0007727 corneal opacities superficial +HP:0007720 cornea flat +HP:0007720 cornea plana +HP:0007233 axonal clusters regeneration +HP:0007722 atrophy epithelial pigment retinal +HP:0040155 3 acid elevated hydroxybutyric urinary +HP:0009110 diaphragm eventration +HP:0009110 diaphragmatic eventration +HP:0004447 poikilocytosis +HP:0005659 kyphoscoliosis thoracic +HP:0005656 deformity foot positional +HP:0010713 1st 5th toes webbed +HP:0010713 1 5 syndactyly toe +HP:0010713 all syndactyly toes +HP:0005655 digital exostoses multiple +HP:0005652 cortical sclerosis +HP:0005653 generalized moderate osteoporosis +HP:0005650 2 5 between cutaneous fingers syndactyly +HP:0008803 narrow notch sacroiliac +HP:0008041 glaucoma late onset +HP:0001978 extramedullary hematopoiesis +HP:0001978 erythropoiesis extramedullary +HP:0001977 abnormal thrombosis +HP:0001977 abnormal blood clot +HP:0001976 antithrombin decreased iii +HP:0001976 activity antithrombin iii reduced +HP:0001976 antithrombin deficiency iii +HP:0001976 anti deficiency iii thrombin +HP:0001975 complex glycoprotein iib iiia level platelet reduced +HP:0001975 glanzmann thrombasthenia +HP:0001975 decreased glycoprotein iib iiia platelet +HP:0001974 blood count elevated white +HP:0001974 blood increased leukocyte number +HP:0001974 leukocytosis +HP:0001974 blood count high white +HP:0001973 autoimmune thrombocytopenia +HP:0001973 immune thrombocytopenia +HP:0001973 idiopathic thrombocytopenia +HP:0001973 idiopathic purpura thrombocytopenic +HP:0001972 anemia macrocytic +HP:0001971 hypersplenism +HP:0001970 interstitial nephritis +HP:0001970 nephritis tubulointerstitial +HP:0100133 abnormality hair pubic +HP:0007286 horizontal jerk nystagmus +HP:0008069 cancer melanoma non skin +HP:0008069 skin tumor +HP:0008069 neoplasia skin +HP:0008069 dermatological tumors +HP:0008069 cancer skin +HP:0008069 neoplasm skin +HP:0008069 skin tumors +HP:0100132 2nd bone end innermost part toe triangular +HP:0100132 2nd epiphysis phalanx proximal toe triangular +HP:0006440 bone density increased long shaft +HP:0006440 bone density diaphyses increased long +HP:0009206 bone end enlarged finger middle part pinky +HP:0009206 bone end enlarged finger little middle part +HP:0009206 5th enlarged epiphysis finger middle phalanx +HP:0009206 bone end enlarged finger middle part pinkie +HP:0000598 anomaly ear +HP:0000598 abnormality ear +HP:0000599 abnormality frontal hairline +HP:0000599 abnormality at front hairline head +HP:0000592 blue eyeball outer part white +HP:0000592 a are bluish color eyes gray whites +HP:0000592 bluish sclerae +HP:0000592 blue sclera +HP:0000592 blue sclerae +HP:0000593 abnormal anterior chamber morphology +HP:0000593 anomalies anterior chamber +HP:0000593 abnormality anterior chamber +HP:0000593 abnormality anterior chamber ocular +HP:0000590 external ophthalmoplegia progressive +HP:0000591 abnormality sclera +HP:0000591 abnormal morphology sclera +HP:0000591 abnormality eyeball outer part white +HP:0000597 ophthalmoparesis +HP:0000597 extraocular eye movement weakness +HP:0000597 extraocular muscle palsy +HP:0000597 controlling eye movement muscles weakness +HP:0000597 extraocular muscle paralysis +HP:0000594 anterior chamber shallow +HP:0008369 abnormal bones ossification tarsal +HP:0008369 ankle bones hardening +HP:0008369 abnormal ankle bones maturation +HP:0008369 abnormal ossification tarsal +HP:0008368 synostosis tarsal +HP:0008368 bone synostosis tarsal +HP:0008368 fusion tarsal +HP:0008368 bone fusion tarsal +HP:0008368 fusions tarsal +HP:0008368 bones involving synostosis tarsal +HP:0008368 bones synostosis tarsal +HP:0008368 ankle bones fused +HP:0012904 cold myotonia sensitive +HP:0012905 euryblepharon +HP:0012905 eyelids kabuki syndrome +HP:0012902 limb lower myotonia +HP:0012903 limb myotonia upper +HP:0012900 face myotonia +HP:0012901 jaw myotonia +HP:0008361 corticospinal pallor tract +HP:0008360 hypoproteinemia neonatal +HP:0008363 absent ankle bone small +HP:0008363 absent ankle bone underdeveloped +HP:0008363 aplasia bones hypoplasia tarsal +HP:0008363 aplastic hypoplastic tarsals +HP:0031098 decreased plasma tsh +HP:0031098 decreased level thyrotropin +HP:0031098 decreased hormone level stimulating thyroid +HP:0008365 abnormal ankle bone large +HP:0008365 abnormality talus +HP:0008364 abnormality calcaneus +HP:0008364 abnormal bone heel +HP:0008366 contractures foot joints +HP:0008366 contractures feet involving joints +HP:0009379 5th distal finger or phalanx rhomboid shaped triangular +HP:0009379 bone finger or pinky rhomboid shaped triangular +HP:0009379 bone finger or pinkie rhomboid shaped triangular +HP:0009379 bone finger little or rhomboid shaped triangular +HP:0009378 bones finger little shaped triangular +HP:0009378 5th finger phalanges shaped triangular +HP:0009378 bones finger pinky shaped triangular +HP:0009378 bones finger pinkie shaped triangular +HP:0003719 mounding muscle +HP:0009371 a1 brachydactyly type +HP:0009370 a brachydactyly type +HP:0003717 fat minimal subcutaneous +HP:0003717 below fat minimal skin +HP:0009372 fingers index second short toes +HP:0009372 a2 brachydactyly type +HP:0009375 bones bullet finger pinky shaped +HP:0009375 bones bullet finger pinkie shaped +HP:0009375 bones bullet finger little shaped +HP:0009375 5th bullet finger phalanges shaped +HP:0009374 bones broad finger pinky +HP:0009374 bones broad finger pinkie +HP:0009374 bones broad finger little +HP:0009374 5th broad finger phalanges +HP:0009377 bone density finger increase little uneven +HP:0009377 5th finger patchy phalanges sclerosis +HP:0009377 5th finger patchy phalanx sclerosis +HP:0009377 bone density finger increase pinkie uneven +HP:0009377 bone density finger increase pinky uneven +HP:0009376 absent bones finger pinkie small +HP:0009376 absent bones finger pinky underdeveloped +HP:0009376 absent bones finger little small +HP:0009376 5th aplasia finger hypoplasia phalanges +HP:0009376 absent bones finger pinky small +HP:0002442 dyscalculia +HP:0002442 arithmetical calculations difficulty making +HP:0010858 discharges eeg epileptiform hyperventilation induced with +HP:0010859 breech frank presentation +HP:0002446 astrocytosis +HP:0002446 astrocyte increase number +HP:0002999 dislocation patella +HP:0002999 dislocated kneecap +HP:0002999 dislocation patellar +HP:0002999 dislocated patellae +HP:0002444 hamartoma hypothalamic +HP:0002445 tetraplegia +HP:0002445 all four limbs paralysis +HP:0002445 quadriplegia +HP:0010852 eeg on photoparoxysmal response +HP:0010852 eeg photoparoxysmal response with +HP:0010853 discharges eeg epileptiform lateralized periodic with +HP:0010853 discharges eeg epileptiform lateralized periodic +HP:0010850 complexes eeg spike wave with +HP:0010851 burst eeg suppression with +HP:0010856 complexes eeg periodic with +HP:0010856 complexes radermecker +HP:0010856 complexes eeg periodic +HP:0010857 abnormalities eeg periodic with +HP:0010857 abnormalities eeg periodic +HP:0010854 activity amplitude eeg generalised low +HP:0010854 activity amplitude eeg generalized low with +HP:0010855 activity amplitude eeg localized low with +HP:0010855 activity amplitude eeg localised low +HP:0031637 artery atresia coronary ostial right +HP:0000629 around eyes fullness +HP:0000629 periorbital puffiness +HP:0000629 around eye puffiness +HP:0000629 fullness periorbital +HP:0200151 cutaneous mastocytosis +HP:0000625 eyelid notched +HP:0000625 cleft eyelid +HP:0000625 coloboma eyelid +HP:0000625 defect eyelid full thickness +HP:0000627 embryotoxon +HP:0000627 embryotoxon posterior +HP:0000620 dacryocystitis +HP:0000620 dacrocystitis +HP:0000620 infection lacrimal sac +HP:0000621 eyelid folded +HP:0000621 eyelid turned +HP:0000621 eyelid inverted +HP:0000621 entropion +HP:0000622 blurred vision +HP:0000623 ophthalmoplegia supranuclear +HP:0031634 anomalous artery carotid common from left main origin pulmonary +HP:0011459 carcinoma esophageal +HP:0011458 abdominal symptom +HP:0011109 chronic disease sinus +HP:0011109 chronic sinusitis +HP:0011108 recurrent sinusitis +HP:0011108 disease recurrent sinus +HP:0011455 absent malleus +HP:0011454 abnormality malleus +HP:0011457 eyelashes fell out +HP:0011457 ciliary madarosis +HP:0011457 eyelashes loss +HP:0011457 milphosis +HP:0011457 eyelashes missing +HP:0011456 absent stapes +HP:0011451 at birth head present small +HP:0011451 skull small +HP:0011451 age circumference for gestational head small +HP:0011451 head small +HP:0011451 at birth circumference decreased head present +HP:0011451 at birth cranium present small +HP:0011451 microcephaly +HP:0011451 circumference head small +HP:0011451 at birth present skull small +HP:0011451 at birth microcephaly present +HP:0011451 at birth circumference head present small +HP:0011451 circumference decreased head +HP:0011450 cns infection unusual +HP:0011450 central infection nervous system +HP:0011453 abnormality incus +HP:0011452 abnormality ear functional middle +HP:0004291 bones calcification hand stippled +HP:0004290 bones hand sclerosis striations transverse with +HP:0004293 fusion metacarpal second trapezoid +HP:0004293 metacarpal second synostosis trapezoid +HP:0004292 bones hand undermodelled +HP:0004295 abnormality layer membrane mucous stomach +HP:0004295 abnormality gastric mucosa +HP:0004294 joints metacarpophalangeal subluxation +HP:0004294 joints metacarpal phalangeal subluxation +HP:0004294 dislocation knuckle partial +HP:0004297 abnormality biliary system +HP:0004296 abnormality blood gi vessels +HP:0004296 abnormality gastrointestinal vasculature +HP:0004299 abdominal herniated wall +HP:0004299 abdominal hernia wall +HP:0004298 abdomen abnormality external features +HP:0004298 abdominal abnormality wall +HP:0002194 delayed motor skills +HP:0002194 delayed gross motor skills +HP:0002194 delayed development gross motor +HP:0002194 delay developmental gross motor +HP:0002194 development gross limited motor +HP:0002194 delay gross motor +HP:0002195 cerebellar dysgenesis vermis +HP:0002196 myelopathy +HP:0002665 lymphoma +HP:0002665 cancer lymphatic system +HP:0002190 choroid cyst plexus +HP:0002191 progressive spasticity +HP:0002193 behavioral pseudobulbar symptoms +HP:0002198 enlarged fourth ventricle +HP:0002198 dilated fourth ventricle +HP:0002199 hypocalcemic seizures +HP:0002199 calcium low seizures +HP:0002199 due hypocalcemia seizures to +HP:0002668 body carotid tumors +HP:0002668 paragangliomas +HP:0002668 paraganglioma +HP:0002669 osteosarcoma +HP:0002669 osteogenic sarcoma +HP:0002669 bone cancer cell +HP:0030274 accessory scrotum +HP:0030274 extra scrotum +HP:0030275 ectopic scrotum +HP:0030275 abnormal position scrotum +HP:0100579 mucosal telangiectasiae +HP:0100578 atrophy fat +HP:0100578 area fat localized loss tissue +HP:0100578 lipoatrophy +HP:0030270 activity adenosine cell deaminase elevated red +HP:0030271 2 3 concentration diphosphoglycerate erythrocyte reduced +HP:0030272 abnormal activity enzyme erythrocyte +HP:0030273 activity adenosine cell deaminase red reduced +HP:0100573 cardiac diverticulum muscular +HP:0100572 aneurysm ventricular +HP:0100572 cardiac diverticulum fibrous +HP:0100571 cardiac diverticulum +HP:0100571 diverticulum ventricular +HP:0100570 carcinoid tumors +HP:0100570 carcinoid +HP:0100570 carcinoid tumor +HP:0030278 hypoplastic pedicle vertebral +HP:0100576 amaurosis fugax +HP:0100575 gallbladder neoplasia +HP:0100575 gallbladder neoplasm +HP:0100574 biliary neoplasm tract +HP:0100574 biliary neoplasia tract +HP:0100857 flat sella turcica +HP:0032166 gastrointestinal infection unusual +HP:0032167 c difficile enteritis +HP:0032167 clostridium difficile enteritis +HP:0032164 blood concentration folate increased +HP:0032164 acid also an as b9 circulating concentration elevated folic is known vitamin which +HP:0032165 dysplasia mesenchymal placental +HP:0032162 infection skin unusual +HP:0032163 contagiosum molluscum +HP:0032160 cryptococcal meningitis +HP:0032161 coccidioidal meningitis +HP:0007179 absent pursuit smooth +HP:0032168 clostridium colitis difficile +HP:0032169 infection severe +HP:0030188 a body part tremor +HP:0030188 anatomical by site tremor +HP:0030186 kinetic tremor +HP:0030186 essential tremor +HP:0030187 titubation +HP:0030185 isometric tremor +HP:0030185 dystonia tremor +HP:0030182 tetraparesis tetraplegia +HP:0030183 enhanced impaired ocular reflex vestibulo visually +HP:0030183 impairment vvor +HP:0030183 enhanced impairment ocular reflex vestibulo visually +HP:0030180 oppenheim sign +HP:0030180 oppenheim reflex +HP:0030181 gordon sign +HP:0030181 gordon reflex +HP:0100256 braindruse +HP:0100256 druse senile +HP:0100256 plaques senile +HP:0100256 neuritic plaques +HP:0008061 absent retina underdeveloped +HP:0008061 aplasia hypoplasia retina +HP:0008061 absent retina small +HP:0025247 cyst dermoid +HP:0025530 palmare striatum xanthoma +HP:0025530 creases palmar xanthomas +HP:0025533 d orange peau +HP:0025532 pathergy positive test +HP:0025243 hemorrhage subretinal +HP:0025243 haemorrhage subretinal +HP:0025243 heme subretinal +HP:0025534 melanocytosis ocular +HP:0025534 melanosis oculi +HP:0025534 melanosis ocular +HP:0025537 edema plantar +HP:0025536 sign v +HP:0025539 abnormal b cell distribution subset +HP:0008651 acid gout independent uric urolithiasis +HP:0000531 corneal crystals +HP:0000531 corneal deposits +HP:0011835 absent bone scaphoid +HP:0011835 absent scaphoid +HP:0011835 bone missing scaphoid +HP:0025249 comedo +HP:0025248 cyst eruptive hair vellus +HP:0100250 calcification meningeal +HP:0100251 central lipomas neryous system +HP:0012753 basal ganglia hypointense t2 +HP:0012752 basal focal ganglia hypointense lesion t2 +HP:0012751 abnormal basal ganglia intensity mri signal +HP:0012750 brainstem hypointense t2 +HP:0012757 abnormal neuron shape +HP:0012757 abnormal morphology neuronal +HP:0012757 abnormal morphology neuron +HP:0012756 csf pleocytosis polymorphonuclear +HP:0012755 brainstem enlarged +HP:0012754 cns hypermyelination +HP:0012759 abnormality neurodevelopmental +HP:0012758 delay neurodevelopmental +HP:0002741 infections marcescens recurrent serratia +HP:0031585 13 cleft facial number tessier +HP:0031584 12 cleft facial number tessier +HP:0031587 30 cleft facial number tessier +HP:0031586 14 cleft facial number tessier +HP:0031581 9 cleft facial number tessier +HP:0006638 aplasia midclavicular +HP:0006638 collarbone middle missing part +HP:0031583 11 cleft facial number tessier +HP:0031582 10 cleft facial number tessier +HP:0006634 osteosclerosis ribs +HP:0006634 bone density increased ribs +HP:0006637 calcifications punctate sternal +HP:0006631 blade outermost segments shoulder underdeveloped +HP:0006631 distal hypoplastic scapulae segments +HP:0006631 blade distal segments shoulder small +HP:0006631 blade outermost segments shoulder small +HP:0031588 demeanor unhappy +HP:0006633 fossa glenoid hypoplasia +HP:0006633 fossa glenoid hypoplastic +HP:0006633 glenoid hypoplasia +HP:0009705 2nd bone fusion hand involving long +HP:0009705 2nd involving metacarpal synostosis +HP:0011832 nasal thin tip +HP:0011832 nasal pinched tip +HP:0011832 narrow nasal tip +HP:0011832 nose thin tip +HP:0011832 nose pinched tip +HP:0011832 narrow nose tip +HP:0007905 abnormal iris vasculature +HP:0007905 abnormality blood iris vessels +HP:0007906 increased intraocular pressure +HP:0007906 elevated iop +HP:0007906 iop raised +HP:0007906 intraocular pressure raised +HP:0007906 eye high pressure +HP:0007906 increased iop +HP:0007906 elevated intraocular pressure +HP:0007906 hypertension ocular +HP:0007900 duct hypoplastic lacrimal +HP:0007900 duct tear underdeveloped +HP:0007902 haemorrhage vitreous +HP:0007902 hemorrhage vitreous +HP:0007903 atrophy chorioretinal paravenous +HP:0200158 agenesis incisor lateral mandibular permanent +HP:0200158 absence incisor lateral mandibular permanent +HP:0200158 incisor lateral mandibular missing permanent +HP:0200158 absence adult incisor lateral mandibular +HP:0200158 development failure incisor lateral mandibular permanent +HP:0200158 adult incisor lateral lower missing +HP:0200159 agenesis deciduous incisor lateral mandibular +HP:0200159 agenesis incisor lateral mandibular primary +HP:0200159 absence incisor lateral mandibular primary +HP:0200159 incisor lateral mandibular missing primary +HP:0200159 deciduous development failure incisor lateral mandibular +HP:0200159 absence deciduous incisor lateral mandibular +HP:0200159 deciduous incisor lateral mandibular missing +HP:0200159 absence baby front lower tooth +HP:0200159 development failure incisor lateral mandibular primary +HP:0031639 absent lmca +HP:0031639 absent artery coronary left main +HP:0031638 anomalous anterior artery descending from left origin pulmonary +HP:0200150 acid bile concentration during increased pregnancy resolves serum +HP:0200150 acid bile concentration during increased pregnancy serum +HP:0031636 anomalous aorta artery carotid common from origin right +HP:0031635 anomalous artery brachiocephalic carotid common from left origin +HP:0031635 anomalous artery brachiocephalic carotid common from left origin trunk +HP:0200153 absence incisor lateral +HP:0200153 development failure incisor lateral +HP:0200153 agenesis incisor lateral +HP:0200153 incisor lateral missing +HP:0031633 artery isolation left subclavian +HP:0031632 anomalous aorta artery descending from origin right subclavian +HP:0031631 honeycombing subpleural +HP:0031630 abnormal morphology subpleural +HP:0040331 cerebral focal hypointensity matter mri on white +HP:0011831 crooked nasal tip +HP:0011831 deviated nasal tip +HP:0011831 distortion nasal tip +HP:0011831 deviated nose tip +HP:0011831 crooked nose tip +HP:0011831 asymmetry nose tip +HP:0011831 asymmetry nasal tip +HP:0011201 changes eeg voltage with +HP:0010637 amyloidosis conjunctival +HP:0011830 abnormality lining mouth +HP:0011830 abnormality mucosa oral +HP:0011830 abnormality mouth mucosa +HP:0011830 abnormal morphology mucosa oral +HP:0011830 abnormality membrane mucous oral +HP:0031996 crackles inspiratory +HP:0004909 alkalosis hypochloremic hypokalemic metabolic +HP:0004901 acidemia exercise induced lactic +HP:0004901 acidosis exercise induced lactic +HP:0004900 acidosis lactic severe +HP:0031890 increased urine urobilinogen +HP:0004905 a deficiency vitamin +HP:0004904 diabetes maturity onset young +HP:0004906 dehydration hypernatremic +HP:0001362 defect skull +HP:0001362 cranial defect +HP:0001362 calvarial defect +HP:0001362 calvarial defect skull +HP:0001363 closure premature suture +HP:0001363 craniosynostosis +HP:0001363 closure fontanel premature +HP:0001363 closure cranial premature sutures +HP:0001363 cranial suture synostosis +HP:0001363 craniosyostosis +HP:0001363 deformity skull +HP:0001363 cranial early fusion sutures +HP:0001363 craniostenosis +HP:0001360 holoprosencephaly +HP:0001360 brain single ventricle +HP:0001361 head induced nodding nystagmus +HP:0001367 anomaly joints +HP:0001367 abnormal joints shape +HP:0001367 abnormal joint morphology +HP:0001367 abnormality joints +HP:0001367 disease joint +HP:0001369 arthritis +HP:0001369 inflammation joint +HP:0000360 ears ringing +HP:0000360 tinnitus +HP:0000363 abnormal earlobe +HP:0000363 abnormality ear lobe +HP:0000363 abnormality earlobe +HP:0000362 otosclerosis +HP:0000365 hearing loss +HP:0000365 hypoacusis +HP:0000365 hearing impairment +HP:0000365 defect hearing +HP:0000365 deafness +HP:0000364 abnormality hearing +HP:0000364 abnormal hearing +HP:0000366 malformation nasal +HP:0000366 abnormality nasal +HP:0000366 deformity nasal +HP:0000366 deformity nose +HP:0000366 malformation nose +HP:0000366 anomaly nasal +HP:0000366 anomaly nose +HP:0000366 abnormality nose +HP:0000369 ears lowset +HP:0000369 ears low set +HP:0000369 melotia +HP:0000368 ears low posteriorly rotated set +HP:0008176 hyperbilirubinemia neonatal unconjugated +HP:0500079 alternating hypophoria +HP:0500072 absolute eccentric fixation +HP:0500073 abnormal alignment ocular +HP:0500070 conjunctival dermolipoma +HP:0008178 abnormal cartilage matrix +HP:0008179 arden decreased electrooculogram ratio +HP:0008179 arden decreased eog ratio +HP:0500074 deviation dissociated vertical +HP:0500075 deviation dissociated horizontal +HP:0004844 anemia coombs hemolytic positive +HP:0004844 coombs direct positive +HP:0004845 aml m5 +HP:0004845 acute leukemia monocytic +HP:0004845 acute leukemia monoblastic +HP:0004846 after bleeding prolonged surgery +HP:0004846 after bleeding protracted surgery +HP:0004846 bleeding during excessive surgery +HP:0004840 anemia hypochromic microcytic +HP:0009561 acro finger index osteolysis +HP:0009561 2nd bone defects finger osteolytic outermost +HP:0009561 acro finger index osteolysis phalanx terminal +HP:0009561 2nd defects distal finger osteolytic phalanx +HP:0009562 2nd distal finger patchy phalanx sclerosis +HP:0009562 2nd bone density finger increase outermost uneven +HP:0009563 2nd distal finger middle symphalangism +HP:0009563 bones finger fused index middle outermost +HP:0009563 2nd distal finger middle phalanges symphalangism +HP:0004848 acute leukemia lymphoblastic philadelphia positive +HP:0004848 acute leukemia lymphoblastic ph positive +HP:0009569 2nd broad finger middle phalanx +HP:0009569 bone broad finger index middle +HP:0025549 eccentric fixation +HP:0025549 eccentric fixation visual +HP:0030861 amyloid csf decreased level +HP:0001507 growth issue +HP:0001507 abnormal growth +HP:0001507 abnormality growth +HP:0001504 metacarpal osteolysis +HP:0001504 metacarpals osteolysis +HP:0030862 amyloid csf elevated level +HP:0030865 elbow large +HP:0030864 chest retractions +HP:0030864 intercostal retractions +HP:0001500 broad finger +HP:0001500 broad fingers +HP:0001500 fingers wide +HP:0001501 6 bones hand long +HP:0001501 6 metacarpals +HP:0030869 anorchism +HP:0030868 monorchidism +HP:0030868 monorchism +HP:0001508 undergrowth +HP:0001508 failure thrive to +HP:0001508 failure postnatal thrive to +HP:0001508 faltering weight +HP:0001508 gain poor weight +HP:0000105 enlarged kidney +HP:0000105 enlargement renal +HP:0000105 kidneys large +HP:0000105 kidney large +HP:0000105 nephromegaly +HP:0005464 cranial sclerosis +HP:0005464 craniofacial osteosclerosis +HP:0000107 cystic kidneys +HP:0000107 cystic disease kidney +HP:0000107 cyst renal +HP:0000107 cyst kidney +HP:0000107 cysts renal +HP:0005466 bone forehead small +HP:0005466 bone decreased forehead size +HP:0005466 bone frontal hypoplasia +HP:0005466 bone frontal hypotrophic +HP:0005466 bone forehead underdevelopment +HP:0005466 bones frontal hypotrophic +HP:0005466 bone forehead thin +HP:0005466 bones frontal hypoplastic +HP:0005461 craniofacial disproportion +HP:0000100 nephrosis +HP:0000100 nephrotic syndrome +HP:0000103 polyuria +HP:0000103 increased output urine +HP:0005462 calcification cerebri falx +HP:0011202 acceleration diffuse eeg with +HP:0008285 hypophosphatemia transient +HP:0008282 hyperbilirubinemia unconjugated +HP:0000108 corticomedullary cystic disease renal +HP:0000108 corticomedullary cysts renal +HP:0008281 acute hyperammonemia +HP:0009281 4th aplasia finger +HP:0009281 absent finger ring +HP:0004598 centers ossification supernumerary vertebral +HP:0009280 4th finger short +HP:0009280 4th finger hypoplastic small +HP:0009280 finger ring short +HP:0004594 bone central endplate hump mound portions posterior shaped vertebral +HP:0004592 platyspondyly thoracic +HP:0009283 4th abnormality finger middle phalanx +HP:0009283 abnormality finger middle phalanx ring +HP:0009283 abnormal bone finger middle ring +HP:0004590 hypoplastic sacrum +HP:0004590 sacrum small +HP:0004591 bodies disc like vertebral +HP:0009282 4th abnormality distal finger phalanx +HP:0009282 abnormality bone finger outermost ring +HP:0000079 anomalies tract urinary +HP:0000079 abnormality system urinary +HP:0000079 abnormality tract urinary +HP:0000079 abnormalities tract urinary +HP:0009285 bone curved finger ring +HP:0009285 4th curved finger phalanges +HP:0009284 abnormal bone finger innermost ring +HP:0009284 abnormality finger phalanx proximal ring +HP:0009284 4th abnormality finger phalanx proximal +HP:0009287 bone curved finger middle ring +HP:0009287 4th curved finger middle phalanx +HP:0009286 4th curved distal finger phalanx +HP:0009286 bone curved finger outermost ring +HP:0430021 abnormal artery carotid common morphology +HP:0430021 abnormality artery carotid common +HP:0009837 bone bullet finger hand outermost shaped +HP:0009837 bullet distal hand phalanges shaped +HP:0004902 acidosis lactic +HP:0010788 neoplasm testicular +HP:0010788 testicular tumor +HP:0010788 neoplasia testicular +HP:0010788 cancer testicular +HP:0040219 absent cells killer natural +HP:0040219 absent cells nk +HP:0040218 cell count killer natural reduced +HP:0040218 cell nk number reduced +HP:0040218 cell killer natural number reduced +HP:0010789 abnormality cells leydig +HP:0040211 abnormality palm skin +HP:0040210 abnormal biopterin level +HP:0040213 hypopnea +HP:0040212 risus sardonicus +HP:0040212 grin rictus +HP:0040215 abnormal circulating insulin level +HP:0009838 curved distal hand phalanges +HP:0009838 bone curved finger hand outermost +HP:0040217 elevated glycosylated hemoglobin +HP:0040217 hba1c increased levels +HP:0040217 a1c elevated hemoglobin +HP:0040217 elevated glycated hemoglobin +HP:0040216 hypoinsulinemia +HP:0009839 defects distal hand osteolytic phalanges +HP:0009839 acroosteolysis distal phalanges +HP:0009839 bone defects finger hand osteolytic outermost +HP:0009839 acro distal osteolysis phalanges +HP:0010621 soft syndactyly tissue toes +HP:0010621 cutaneous feet syndactyly +HP:0010621 cutaneous syndactyly toes +HP:0010621 skin toes webbed +HP:0010192 bone outermost shaped toes triangular +HP:0010192 distal phalanges shaped toes triangular +HP:0010191 affecting distal phalanges symphalangism toes +HP:0010191 bones fused outermost toes +HP:0010190 bone density increase outermost toe uneven +HP:0010190 distal patchy phalanges sclerosis toes +HP:0010190 distal patchy phalanx sclerosis toe +HP:0010625 anterior dysgenesis pituitary +HP:0010625 adenohypophysis +HP:0010196 bullet middle phalanges shaped toes +HP:0010196 bullet middle phalanx shaped toe +HP:0010196 bones bullet middle shaped toes +HP:0010627 gland pituitary underdeveloped +HP:0010627 gland hypoplasia pituitary +HP:0010627 anterior hypoplasia pituitary +HP:0010626 aplasia gland pituitary +HP:0010626 absent gland pituitary +HP:0010626 agenesis anterior pituitary +HP:0010629 abnormal cortex humerus morphology +HP:0010628 bell palsy s +HP:0010628 bilateral facial or palsy unilateral +HP:0010628 facial nerve paralysis +HP:0010628 cranial nerve palsy seventh +HP:0010628 by cn facial innervated muscle muscles vii weakness +HP:0010628 facial palsy +HP:0010628 cranial nerve palsy th vii +HP:0010628 cranial nerve palsy vii +HP:0010628 facial nerve palsy +HP:0010199 middle patchy phalanges sclerosis toes +HP:0010199 bone density increase middle toe uneven +HP:0010199 middle patchy phalanx sclerosis toe +HP:0010198 defects middle osteolytic phalanges toes +HP:0010780 hyperacusis +HP:0011864 elevated plasma pyrophosphate +HP:0003109 hyperphosphaturia +HP:0003109 phosphaturia +HP:0003109 high levels phosphate urine +HP:0004338 abnormality acid amino aromatic family metabolism +HP:0011867 abnormality ilium wing +HP:0011860 dappling metaphyseal +HP:0011860 dappled metaphyseal sclerosis +HP:0011861 bilateral lungs trilobed +HP:0011862 abnormal bone collagen fibril morphology +HP:0011863 abnormalities center ossification sternal +HP:0011863 abnormal ossification sternal +HP:0011863 abnormal breastbone maturation +HP:0003452 increased iron serum +HP:0004333 bone cells foam marrow +HP:0004333 biopsy bone cells foam large marrow on vacuolated +HP:0004333 biopsy bone cells foam large marrow np on vacuolated +HP:0003450 activity biopsy nerve on regenerative +HP:0003450 axonal regeneration +HP:0003103 abnormality bone cortical +HP:0003103 abnormal bone compact morphology +HP:0003103 abnormal bone cortical morphology +HP:0011868 sciatica +HP:0011869 abnormal function platelet +HP:0003106 erosions subperiosteal +HP:0003106 bone resorption subperiosteal +HP:0003455 acids chain elevated fatty long +HP:0003457 abnormal emg +HP:0003457 abnormal electromyography finding +HP:0003457 abnormalities emg +HP:0003457 abnormality emg +HP:0003457 abnormal electromyogram +HP:0010999 absent optic tract +HP:0010999 aplasia optic tract +HP:0010998 chromatid exchange increased sister spontaneous susceptibility to +HP:0002859 rhabdomyosarcoma +HP:0002858 meningioma +HP:0010993 abnormality cerebral subcortex +HP:0010993 abnormality cerebral medulla +HP:0010992 incontinence stress urinary +HP:0002857 genua valga +HP:0002857 genu valgum +HP:0002857 genu valga +HP:0002857 genu valgus +HP:0002857 knees knock +HP:0002857 deformity joint knee valgus +HP:0010990 abnormality coagulation common pathway +HP:0002851 alpha beta cd4 cd8 cell cells expressing increased number receptors t +HP:0002851 alpha beta cd4 cd8 cells elevated negative proportion regulatory t +HP:0002850 decreased igm level +HP:0002850 deficiency igm +HP:0002850 decreased igm +HP:0002850 igm levels reduced +HP:0002850 circulating decreased igm total +HP:0002853 cells dr hla increased proportion t +HP:0010994 abnormality nucleus striate +HP:0010994 abnormal corpus morphology striatum +HP:0010994 abnormality neostriatum +HP:0010994 abnormality striatum +HP:0010445 atrial defect ostium primum septal +HP:0010445 atrioventricular canal defect primum +HP:0010445 defect primum septum +HP:0010445 atrial defect primum septal +HP:0010445 atrial defect primum septal type +HP:0010444 insufficiency pulmonary +HP:0010444 incompetence pulmonary +HP:0010444 insufficiency puolmonary valve +HP:0010447 anal fistula +HP:0010447 ano fistula +HP:0010446 stenosis tricuspid +HP:0010441 accessory appendage ectopic finger like +HP:0010440 accesory appendage ectopic like toe +HP:0010443 bifid femur +HP:0010443 notched thighbone +HP:0010443 split thighbone +HP:0010442 feet fingers five hands more on or than toes +HP:0010442 polydactyly +HP:0031800 aii apo elevated level +HP:0031800 apoaii elevated level +HP:0031800 a apolipoprotein elevated ii level +HP:0031800 apoa elevated ii level +HP:0031801 cord dysfunction vocal +HP:0031803 fundus hemorrhage +HP:0031804 hemorrhage premacular +HP:0010448 atresia intestine large +HP:0010448 atresia intestinal large +HP:0010448 atresia colonic +HP:0031806 abnormal basophil count +HP:0031807 basophilia +HP:0031807 basophil count increased +HP:0005886 aphalangy hands +HP:0005885 absent bodies cervical ossification vertebral +HP:0005882 dermatoglyphic variants +HP:0005881 instability spinal +HP:0005880 bone finger fused hand innermost long with +HP:0005880 metacarpophalangeal synostosis +HP:0430020 abnormality alaeque labii levator muscle nasi superioris +HP:0004408 abnormality sense smell +HP:0004408 abnormality olfaction +HP:0004408 defect smell +HP:0004408 abnormal sense smell +HP:0100356 2nd contracture joint metatarsophalangeal toe +HP:0003981 broad radius +HP:0003981 radius wide +HP:0000356 abnormality ear external +HP:0000356 abnormal pinnae +HP:0000356 abnormality auricle +HP:0000356 abnormality ear outer +HP:0000356 malformed pinnae +HP:0000356 anomalies ear +HP:0000356 ear external malformations +HP:0100355 5th contracture hinge joint outermost toe +HP:0100355 5th contractures distal interphalangeal joint toe +HP:0007574 bronze skin +HP:0007574 bronze generalized hyperpigmentation +HP:0007576 neurofibromas palmar +HP:0003982 absent ossification ulna +HP:0003982 aplasia ulna +HP:0003982 absent ulna +HP:0003982 absent ulnae +HP:0100708 abnormality microglia +HP:0002273 tetraparesis +HP:0002273 quadriparesis +HP:0002275 coordination motor poor +HP:0002277 horner syndrome +HP:0002277 oculosympathetic palsy +HP:0002277 horner s syndrome +HP:0100709 oligodendroglia reduction +HP:0012108 angle glaucoma open primary +HP:0012108 angle glaucoma open +HP:0012109 angle closure glaucoma +HP:0012109 angle closure glaucoma primary +HP:0012106 leg rhizomelic shortening +HP:0012107 fibulae thick +HP:0012107 fibula wide +HP:0012107 fibula thick +HP:0012107 bone calf wide +HP:0012107 diameter fibular increased +HP:0012104 atrophy cortical parietal +HP:0012105 atrophy cortical occipital +HP:0012102 abnormal mitochondrial number +HP:0012103 abnormality mitochondrion +HP:0012103 abnormalities mitochondrial +HP:0012100 abnormal blood creatinine level +HP:0012100 abnormal circulating creatinine level +HP:0012100 abnormal creatinine levels +HP:0012101 creatinine decreased serum +HP:0012101 blood creatinine level low +HP:0012101 creatinine levels reduced +HP:0100704 blindness cortical +HP:0100704 cerebral cortical impairment visual +HP:0100704 cortical impairment visual +HP:0100704 cerebral impairment visual +HP:0011718 abnormality pulmonary veins +HP:0011718 abnormality lung veins +HP:0011719 1 anomalous connection pulmonary total type venous +HP:0011719 anomalous connection pulmonary supracardiac total venous +HP:0100705 abnormality cells glial +HP:0011712 block branch bundle right +HP:0011713 block branch bundle left +HP:0011710 block branch bundle +HP:0011711 anterior block fascicular left +HP:0011711 anterior hemiblock left +HP:0011716 ectopic junctional tachycardia +HP:0100706 abnormality oligodendroglia +HP:0011714 lesions libman sacks +HP:0011715 block trifascicular +HP:0012476 antibody deficiency pneumococcal specific +HP:0011566 cor dextrum triatriatum +HP:0011566 cor dexter triatriatum +HP:0100700 abnormality arachnoidea +HP:0100700 abnormality arachnoid mater +HP:0100700 abnormal arachnoid mater morphology +HP:0100701 abnormality mater pia +HP:0100701 abnormal mater pia +HP:0012475 antibody deficiency specific +HP:0012475 antibody circulating decreased level specific +HP:0100702 arachnoid cysts +HP:0100702 arachnoid cyst +HP:0100702 brain cord filled fluid located membrane or sac spinal surrounding +HP:0100703 thrusting tongue +HP:0030043 dislocation hip partial +HP:0030043 hip subluxation +HP:0030043 hip involving joint subluxation +HP:0030042 bone incomplete maturation public +HP:0030042 incomplete ossification pubis +HP:0030041 node s schmorl +HP:0030041 nodes s schmorl +HP:0007738 eye movements uncontrolled +HP:0030047 abnormality lateral ventricle +HP:0030046 alpha dystroglycan hypoglycosylation +HP:0030045 bone calf s shaped +HP:0030045 fibula serpentine +HP:0009132 abnormality bone bones density involving mineral tarsal +HP:0009132 abnormal bone density mineral tarsal +HP:0007733 curved eyebrow laterally +HP:0007732 gland tear underdeveloped +HP:0007732 gland hypoplasia lacrimal +HP:0007732 gland hypoplastic lacrimal +HP:0007731 chorioretinal dysplasia +HP:0007730 color eye light +HP:0007730 iris pigmentation reduced +HP:0007730 hypopigmentation iris +HP:0007737 bone corpuscle pigmentation retinal +HP:0007737 bony fundus peripheral spicules with +HP:0007737 bone pigmented retinal spicules +HP:0007737 bone corpuscle fundus pigmentation +HP:0007737 bone pigmentation retina spicule +HP:0009131 abnormality musculature thorax +HP:0007734 enlarged gland tear +HP:0007734 enlarged glands lacrimal +HP:0100326 hypersensitivity immunologic +HP:0100327 allergy milk +HP:0100327 allergy cow milk +HP:0007227 macrogyria +HP:0009130 atrophy hand muscle +HP:0009130 bilateral hand muscle wasting +HP:0009130 amyotrophy hand involving musculature +HP:0009130 amyotrophy hand muscles +HP:0009130 hand muscle wasting +HP:0009130 degeneration hand muscle +HP:0007221 ataxia progressive truncal +HP:0007220 demyelinating motor neuropathy +HP:0100320 fibres rosenthal +HP:0100321 abnormality dentate nucleus +HP:0025180 centrilobular groundglass opacity +HP:0025180 centrilobular groundglass opacification +HP:0025180 centrilobular glass ground hrct on opacification pulmonary +HP:0025181 abdominal abscess aseptic +HP:0025182 area localized pendulous skin +HP:0007229 calcifications intracerebral periventricular +HP:0025186 gunn jaw marcus synkinesis winking +HP:0025186 oculomotor synkinesis trigemino +HP:0025186 levator pterygoid synkinesis +HP:0025186 gunn jaw marcus syndrome winking +HP:0009136 bones duplication feet involving +HP:0009564 2nd bone finger outermost shaped triangular +HP:0009564 2nd distal finger phalanx shaped triangular +HP:0025574 hemorrhage macular +HP:0025574 haemorrhage macular +HP:0025574 bleeding lutea macula occurring retina within +HP:0004415 artery lung narrowing +HP:0004415 artery pulmonary stenosis +HP:0009565 absent bone finger index outermost +HP:0009565 absent finger index phalanx terminal +HP:0009565 2nd aplasia distal finger phalanx +HP:0009134 bones feet involving osteolysis +HP:0009566 finger hypoplastic index phalanx terminal +HP:0009566 2nd distal finger phalanx short +HP:0009566 bone finger index outermost short +HP:0009566 2nd distal finger hypoplastic phalanx small +HP:0009566 finger index phalanx short terminal +HP:0009566 distal finger phalanx second short +HP:0012478 adhesion joint temporomandibular +HP:0012478 freezing jaw joint +HP:0012478 freezing joint temporomandibular +HP:0012478 fusion joint temporomandibular +HP:0012478 ankylosis joint temporomandibular +HP:0012478 joint rigidity temporomandibular +HP:0004880 early infections life respiratory +HP:0001775 osteovalgus tarsal +HP:0009560 2nd curved distal finger phalanx +HP:0009560 bone curved finger index outermost +HP:0001776 bilateral equinovarus talipes +HP:0001776 bilateral clubfeet +HP:0001776 bilateral clubfoot +HP:0001776 both club foot on sides +HP:0001771 achilles contractures tendon +HP:0001771 achilles shortening tendon +HP:0001771 achilles contracture tendon +HP:0001771 achilles tendon tight +HP:0001770 foot syndactyly +HP:0001770 syndactyly toes +HP:0001770 syndactyly toe +HP:0001770 toes webbed +HP:0001770 feet syndactyly +HP:0001770 fused toes +HP:0001773 foot short +HP:0001773 feet short +HP:0001773 feet small +HP:0001773 feet hypoplastic +HP:0004841 deficiency factor hageman +HP:0004841 deficiency factor xii +HP:0004841 activity factor reduced xii +HP:0009138 bones involving limbs lower synostosis +HP:0009138 bones fusion involving limbs lower +HP:0003987 fractured ulna +HP:0410068 acid blood glutamic increased l level +HP:0045079 distal femoral irregular metaphyses +HP:0045079 distal femoral irregularity metaphyseal +HP:0045074 eyebrows thin +HP:0045074 eyebrow thin +HP:0045075 eyebrow hypotrichosis +HP:0045075 eyebrow sparse +HP:0045075 eyebrows sparse +HP:0045073 serositis +HP:0009568 absent bone finger index middle underdeveloped +HP:0009568 absent bone finger index middle small +HP:0009568 2nd aplasia finger hypoplasia middle phalanx +HP:0009568 2nd absent finger hypoplastic middle phalanx +HP:0009568 aplastic finger hypoplastic index middle phalanx +HP:0030450 autonomic nervous neuroplasm system +HP:0030451 cyst mesenteric +HP:0030452 chylolymphatic cyst mesenteric +HP:0030453 abnormal electrophysiology visual +HP:0030454 abnormal electrooculogram +HP:0030454 abnormal eog +HP:0030455 abnormality evoked pattern potentials visual +HP:0030456 abnormality evoked offset onset pattern potentials visual +HP:0030456 abnormality offset onset pattern vep +HP:0030457 abnormal amplitude offset onset pattern vep +HP:0030457 abnormal amplitude evoked offset onset pattern potentials visual +HP:0030458 abnormal evoked offset onset pattern potentials timing visual +HP:0008823 hypoplastic inferior pubic rami +HP:0032058 cortical dysplasia focal iiid type +HP:0100690 central corneal dystrophy mosaic +HP:0030860 42 a abnormal beta csf level +HP:0030860 abnormal amyloid csf level +HP:0030863 flaring nasal +HP:0006179 bone end extra hand long on second +HP:0006179 metacarpal pseudoepiphyses second +HP:0008820 absent capital epiphysis femoral ossification +HP:0008820 absent capital epiphyses femoral ossification +HP:0006172 bones epiphyses flattened off squared tubular +HP:0006172 bones end flattened off part squared tubular +HP:0100018 cataract nuclear +HP:0100018 center cloudy lens yellowish +HP:0006170 chess distal pawn phalanges +HP:0006170 bone chess outermost pawn shaped +HP:0006176 at birth carpal centers ossification present two +HP:0005872 brachydactyly distal middle phalanges progressive +HP:0005872 brachytelomesophalangy +HP:0005872 digits distal ii middle phalanges short through v +HP:0002197 generalized onset seizures +HP:0002197 generalized seizures +HP:0002197 generalized onset seizure +HP:0430022 abnormality sinus sphenoid +HP:0430022 abnormality sinus sphenoidal +HP:0001199 digitalized thumb +HP:0001199 finger like thumb +HP:0001199 thumb triphalangy +HP:0001199 thumbs triphalangeal +HP:0001199 accessory phalanx thumb +HP:0001199 thumb triphalangeal +HP:0030867 eye height unequal +HP:0030867 at different eyes heights +HP:0030867 eyes misaligned +HP:0030867 dystopia orbital vertical +HP:0030172 amyelination peripheral +HP:0001191 abnormal bones wrist +HP:0001191 abnormality bones carpal +HP:0001191 abnormal bones carpal +HP:0001191 anomalies bone carpal +HP:0001191 anomalous bones carpal +HP:0001193 deviation fingers hand or ulnar +HP:0030866 knee large +HP:0001195 artery cord instead one only two umbilical +HP:0001195 cord two umbilical vessel +HP:0001195 2 cord umbilical vessel +HP:0001195 2 cord vessel +HP:0001195 cord two vessel +HP:0001195 artery single umbilical +HP:0001194 abnormalities cord or placenta umbilical +HP:0001197 abnormality birth development or prenatal +HP:0001196 cord short umbilical +HP:0008821 hypoplastic ilia inferior +HP:0000250 cap dense skull +HP:0000250 calvaria dense +HP:0006226 carpometacarpal first joint osteoarthritis +HP:0005130 failure heart restrictive +HP:0000822 hypertension +HP:0000822 blood elevated pressure +HP:0000822 blood increased pressure +HP:0000822 hypertension systemic +HP:0000822 blood high pressure +HP:0000823 delayed development pubertal +HP:0000823 delayed puberty +HP:0000823 delayed growth pubertal +HP:0000823 delay pubertal +HP:0000820 abnormality gland thyroid +HP:0000820 abnormality thyroid +HP:0000820 disease thyroid +HP:0000821 hypothyroidism +HP:0000821 thyroid underactive +HP:0000821 low t4 +HP:0000826 early puberty +HP:0000826 early onset puberty +HP:0000826 precocious puberty +HP:0030175 myelin tomacula +HP:0030175 tomacula +HP:0000824 deficiency growth hormone +HP:0000825 hyperinsulinemic hypoglycemia +HP:0000825 hyperinsulinaemic hypoglycaemia +HP:0000825 hyperinsulinemia hypoglycemia +HP:0005678 anterior atlanto dislocation occipital +HP:0005679 contracture dupuytren +HP:0000828 disease parathyroid +HP:0000828 abnormality gland parathyroid +HP:0000829 hormone low parathyroid +HP:0000829 hypoparathyroidism +HP:0008826 dislocated femoral heads +HP:0008826 bone dislocated head thigh +HP:0008826 dislocation femoral head +HP:0001991 aplastic hypoplastic phalanges toe +HP:0001991 aplasia hypoplasia toe +HP:0001991 absent small toe +HP:0001991 absent toe underdeveloped +HP:0001991 absent hypoplastic toes +HP:0005465 bones excessive facial growth +HP:0005465 facial hyperostosis +HP:0005465 enlargement facial skeleton +HP:0005465 bones facial hyperostosis +HP:0005465 bones facial increase size +HP:0005465 facial hyperostosis skeleton +HP:0005465 facial overgrowth skeleton +HP:0005465 bones enlargement facial +HP:0005465 facial hypertrophy skeleton +HP:0005465 bones enlargment facial +HP:0005465 bones facial overgrowth +HP:0005465 bones facial increased ossification +HP:0005465 facial increased ossification skeleton +HP:0005465 excessive facial growth skeleton +HP:0005465 bones facial hypertrophy +HP:0001993 ketoacidosis +HP:0001992 aciduria organic +HP:0001995 acidosis hyperchloremic +HP:0001994 de debre fanconi syndrome toni +HP:0001994 fanconi renal syndrome +HP:0001994 fanconi renal syndrome tubular +HP:0001997 arthritis gouty +HP:0000104 aplasia renal +HP:0000104 absent kidney +HP:0000104 kidney missing +HP:0000104 agenesis renal +HP:0001999 facies unusual +HP:0001999 face funny looking +HP:0001999 distortion face +HP:0001999 deformity face +HP:0001999 abnormal facial shape +HP:0001999 distinctive facies +HP:0001999 dysmorphic facial features +HP:0001999 face malformation +HP:0001999 appearance facial unusual +HP:0001999 dysmorphism facial +HP:0001999 dysmorphic facies +HP:0001999 abnormal face morphology +HP:0001998 blood low newborn sugar +HP:0001998 hypoglycemia neonatal +HP:0010290 hypoplastic palate +HP:0010290 palate short +HP:0010290 decreased hard length palate +HP:0010290 hard palate short +HP:0010291 large lateral palatal ridges +HP:0010291 folds lateral palatal prominent +HP:0010291 palatine prominent ridges +HP:0010291 folds large lateral palatal +HP:0010291 folds palatine prominent +HP:0010291 lateral palatal prominent ridges +HP:0010292 absent palatine uvula +HP:0010292 absent uvula +HP:0010292 agenesis uvula +HP:0010292 aplasia uvula +HP:0010292 missing uvula +HP:0010292 absence uvula +HP:0010293 aplasia hypoplasia uvula +HP:0010293 aplasia hypoplasia palatine uvula +HP:0010294 hole mouth roof +HP:0010294 fistula palate +HP:0010294 hole palatal +HP:0010294 palatal perforation +HP:0010295 aplasia hypoplasia lingual +HP:0010295 aplasia hypoplasia tongue +HP:0010296 tie tongue +HP:0010296 tied tongue +HP:0010296 ankyloglossia +HP:0010297 snake tongue +HP:0010297 split tongue +HP:0010297 cleft tongue +HP:0010297 forked tongue +HP:0010297 bifurcated tongue +HP:0010297 bifid tongue +HP:0010298 smooth tongue +HP:0010298 dorsum smooth tongue +HP:0010298 smooth surface tongue +HP:0010298 atrophy surface tongue +HP:0010298 atrophy dorsum tongue +HP:0010298 atrophy lingual surface +HP:0010298 lingual smooth surface +HP:0010299 abnormality dentine +HP:0010299 abnormality dentin +HP:0010299 abnormal dentin +HP:0100441 4th bullet distal phalanx shaped toe +HP:0100441 4th bone bullet outermost shaped toe +HP:0031321 cell immune infiltration myocardial +HP:0031320 cardiomyocyte mitochondrial proliferation +HP:0031323 eosinophilic infiltration myocardial +HP:0031322 infiltration lymphocytic myocardial +HP:0031325 granulomatous infiltrates myocardial +HP:0005463 elongated sella turcica +HP:0031327 amyloidosis cardiac transthyretin +HP:0031327 amyloidosis cardiac ttr +HP:0031326 amyloidosis cardiac chain light monoclonal +HP:0031329 cardiac fibrosis interstitial +HP:0100447 4th bone curved innermost toe +HP:0100447 4th curved phalanx proximal toe +HP:0008824 body hypoplastic iliac +HP:0008824 bodies hypoplastic iliac +HP:0008824 bodies iliac small +HP:0100075 4th epiphyses stippling toe +HP:0100075 4th bone calcifications end part speckled toe +HP:0100445 5th curved middle phalanx toe +HP:0100445 bone curved middle pinky toe +HP:0100445 bone curved middle pinkie toe +HP:0100445 bone curved little middle toe +HP:0007311 short shuffling stepped walk +HP:0007311 gait short shuffling stepped +HP:0100444 4th curved middle phalanx toe +HP:0100444 4th bone curved middle toe +HP:0007149 amyotrophy distal limb upper +HP:0007149 atrophy distal limb muscle upper +HP:0100070 4th epiphyses fragmentation toe +HP:0100070 4th bone end fragmentation part toe +HP:0005469 flattening posterior skull +HP:0005469 flat occiput +HP:0005469 cranium flat posterior +HP:0005469 back flat head +HP:0005469 back flat skull +HP:0005469 flat head posterior +HP:0008872 difficulties feeding infancy +HP:0008283 blood fasting high insulin levels while +HP:0008283 fasting hyperinsulinemia +HP:0008341 acidosis i renal tubular type +HP:0008341 acidosis distal renal tubular +HP:0008347 activity complex decreased iv mitochondrial +HP:0008347 complex deficiency iv respiratory +HP:0008346 cells increased red sickling +HP:0008346 erythrocytes increased sickling +HP:0008346 cell increased red sickling tendency +HP:0008345 dilator hypoplasia iris muscle +HP:0008345 dilator iris muscle underdeveloped +HP:0008345 dilator hypoplasia muscle pupil +HP:0008345 dilator muscle pupil underdeveloped +HP:0008344 acids amino branched chain elevated plasma +HP:0004467 ear pit +HP:0004467 earpits preauricular +HP:0004467 pit preauricular +HP:0004467 ear front pit +HP:0004467 preauricular sinus +HP:0004467 pits preauricular +HP:0004467 fistulas preauricular +HP:0008348 deficiency igg2 immunoglobulin +HP:0008348 circulating decreased igg2 level +HP:0008348 igg2 levels reduced +HP:0100016 abnormality mesentery morphology +HP:0100016 abnormality mesentery +HP:0011913 hypertrichosis lumbar +HP:0003737 mitochondrial myopathy +HP:0004100 2nd abnormality finger +HP:0004100 abnormality finger index +HP:0004100 2nd abnormal finger morphology +HP:0009351 bone end finger innermost irregular long middle part +HP:0009351 3rd epiphysis finger irregular phalanx proximal +HP:0009350 bone end finger fragmentation innermost long middle part +HP:0009350 3rd epiphysis finger fragmentation phalanx proximal +HP:0003733 hypertrophy thigh +HP:0003733 increased size thigh +HP:0009356 3rd delta epiphysis finger phalanx proximal shaped +HP:0009356 3rd epiphysis finger phalanx proximal triangular +HP:0009356 bone end finger innermost long middle part triangular +HP:0003731 quadriceps weakness +HP:0003731 muscle quadriceps weakness +HP:0003730 emg myotonic runs +HP:0003730 activity electrical emg repetitive spontaneous +HP:0009358 abnormality finger middle phalanx proximal +HP:0009358 3rd abnormality finger phalanx proximal +HP:0009358 abnormal bone finger innermost middle +HP:0003739 myoclonic spasms +HP:0003738 exercise induced myalgia +HP:0003738 exercise induced muscle pain +HP:0003738 exercise muscle pain with +HP:0003738 exercise muscle on pain +HP:0002464 dysarthria spastic +HP:0002464 dysarthria rigid +HP:0002465 problems speaking +HP:0002465 difficulty speaking +HP:0002465 poor speech +HP:0002460 distal muscle weakness +HP:0002460 distal limb muscle weakness +HP:0002460 distal muscular weakness +HP:0002460 distal limb weakness +HP:0002460 distal due limb muscle neuropathy peripheral to weakness +HP:0002460 distal muscles weakness +HP:0002460 distal paresis +HP:0002460 distal due limbs muscle neuronopathy to weakness +HP:0002460 muscles outermost weakness +HP:0002461 calcifications cerebellar dense dentate nucleus +HP:0002463 disorder language +HP:0002463 impairment language +HP:0010874 tendon xanthomatosis +HP:0010874 tendon xanthomas +HP:0010875 chaddock reflex +HP:0010876 abnormality protein serum +HP:0010876 abnormality circulating level protein +HP:0010876 blood disease protein +HP:0004599 absent bodies minimally or ossified vertebral +HP:0010871 afferent ataxia +HP:0010871 ataxia spinal +HP:0010871 ataxia sensory +HP:0010872 inversion t wave +HP:0010872 ekg inversion t wave +HP:0010873 atrophy cervical cord spinal +HP:0000646 eyes wandering +HP:0000646 amblyopia +HP:0000646 eye lazy +HP:0000646 eye wandering +HP:0000647 connective hardening skin tissue +HP:0000647 sclerocornea +HP:0000642 blindness color green red +HP:0000642 dyschromatopsia green red +HP:0000642 confusion dyschromatopsia green red with +HP:0000642 color defect green red vision +HP:0000643 blepharospasm +HP:0000643 eyelid spasm +HP:0000643 closure eyelid spontaneous +HP:0000643 eyelid twitching +HP:0000643 closure eyelid involuntary +HP:0000640 evoked gaze nystagmus +HP:0000641 eye movement uncoordinated +HP:0000641 dysmetric eye movements +HP:0000641 dysmetric saccades +HP:0000641 dysmetric eye saccades +HP:0000648 degeneration nerve optic +HP:0000648 atrophy optic +HP:0000648 atrophy nerve optic +HP:0000649 abnormalities vep +HP:0000649 abnormal evoked potentials visual +HP:0000649 abnormality evoked potentials visual +HP:0000649 abnormal evoked responses visual +HP:0000649 abnormal evoked potential visual +HP:0000649 abnormal evoked potentials vision +HP:0011477 nystagmus upbeat +HP:0011476 hearing impairment profound sensorineural +HP:0011475 artery persistent stapedial +HP:0011474 childhood hearing impairment onset sensorineural +HP:0011473 atrophy intestinal small villi +HP:0011473 atrophy biopsy shows villous +HP:0011473 atrophy duodenal villous +HP:0011473 atrophy degree variable villous +HP:0011473 degeneration villous +HP:0011473 atrophy villous +HP:0011473 atrophy biopsy intestine shows small villous +HP:0011472 abnormality intestinal morphology small villus +HP:0011472 abnormal intestinal shape small villus +HP:0011471 fed infancy peg +HP:0011471 feeding gastrostomy infancy tube +HP:0011470 feeding infancy nasogastric tube +HP:0011479 abnormal lacrimal morphology punctum +HP:0011479 abnormality lacrimal punctum +HP:0011478 anophthalmia complete +HP:0011478 anophthalmia total +HP:0011478 completely eyeball missing +HP:0011478 anophthalmia true +HP:0003844 epiphyses limbs small upper +HP:0003844 bones end limb part small upper +HP:0003846 broad growth limbs plates upper +HP:0003846 epiphyseal limbs plates upper wide +HP:0003846 broad epiphyseal limbs plates upper +HP:0003841 epiphyses fragmented limbs upper +HP:0003841 bones end fragmented limb part upper +HP:0003840 delayed epiphyseal limb ossification upper +HP:0003840 bone delayed end fo limb maturation part upper +HP:0003843 epiphyses limbs round upper +HP:0003843 bones end limb part round upper +HP:0003842 bones end irregular limb part upper +HP:0003842 epiphyses irregular limbs upper +HP:0031110 to transfusion twin +HP:0031110 syndrome to transfusion twin +HP:0003849 flared limb metaphysis upper +HP:0003849 bone flared limb portion upper wide +HP:0003849 flared limbs metaphyses upper +HP:0003848 bone cupped limb portion upper wide +HP:0003848 cupped limbs metaphyses upper +HP:0100796 inflammation testicles +HP:0100796 orchitis +HP:0410207 methadone plasma positive serum test +HP:0030218 punding +HP:0030219 dementia semantic +HP:0030219 remembering trouble words +HP:0030216 inertia +HP:0011916 amyotrophy extensor toe +HP:0030214 addiction sex +HP:0030214 hypersexuality +HP:0030215 crying inappropriate +HP:0030212 collectionism +HP:0030212 compulsive hoarding +HP:0030213 blunting emotional +HP:0030210 anti antibodies musk +HP:0030210 antibody kinase muscle positivity specific +HP:0030211 light pupillary response slow +HP:0007030 encephalopathy nonprogressive +HP:0008751 cleft laryngeal +HP:0008751 cleft i laryngotracheoesophageal +HP:0008751 cleft laryngotracheal +HP:0008752 cartilage laryngeal malformation +HP:0008752 abnormalities cartilage due impairment laryngeal severe to vocal +HP:0007033 cerebellar dysplasia +HP:0100519 anuria +HP:0100519 absent output urine +HP:0100518 dysuria +HP:0100518 difficult or painful urination +HP:0100518 burning dull sensation urination with +HP:0007036 hypoplasia olfactory tract +HP:0007036 olfactory tract underdeveloped +HP:0008757 cord paralysis unilateral vocal +HP:0100515 pollakisuria +HP:0100515 frequent urination +HP:0100515 constant urination +HP:0007039 basal ganglia lesions symmetric +HP:0100517 neoplasm urethra +HP:0100517 neoplasia urethra +HP:0100516 neoplasm ureter +HP:0100516 cancer ureter +HP:0100516 neoplasia ureters +HP:0100511 abnormality d metabolism vitamin +HP:0100510 c deficiency vitamin +HP:0100513 alpha deficiency tocopherol +HP:0100513 deficiency e vitamin +HP:0100512 d deficient vitamin +HP:0100512 d deficiency vitamin +HP:0032148 episodic pain +HP:0032149 breakthrough pain +HP:0032140 antibody decreased response specific to vaccination +HP:0032141 pain precordial +HP:0032142 fetor hepaticus +HP:0032142 foetor hepaticus +HP:0430024 abnormality external jugular vein +HP:0032144 coffee ground vomitus +HP:0032144 coffee emesis grounds +HP:0032144 coffee grounds vomiting +HP:0032145 atrophy nerve sural +HP:0032146 hbc hemoglobin +HP:0032146 c hemoglobin +HP:0032147 erythromelalgia +HP:0031197 casts cellular urinary +HP:0025519 biliary hamartomas multiple +HP:0025519 bile duct hamartomas multiple +HP:0025519 biliary hamartoma +HP:0025519 complexes meyenburg von +HP:0025518 gaze preference visual +HP:0025513 rupture scleral +HP:0025512 colored flesh papule +HP:0025512 colored papule skin +HP:0025511 nevus sebaceus +HP:0025510 nevus spillus +HP:0025510 lentiginous nevus speckled +HP:0025517 hippocampus hypoplastic +HP:0025516 artery coronary fistula pulmonary +HP:0025515 delayed thelarche +HP:0025514 anomaly glory morning +HP:0025514 disc glory morning optic +HP:0025514 anomaly disc glory morning +HP:0002648 abnormality cranium shape +HP:0002648 abnormality bones shape skull +HP:0002648 abnormality calvarial morphology +HP:0002648 abnormal cranium morphology +HP:0002648 abnormality calvarium shape +HP:0002648 abnormally shaped skull +HP:0002648 abnormality bone morphology skull +HP:0002648 abnormality bone cranial morphology +HP:0025405 fixation instability visual +HP:0025405 fixation instability ocular +HP:0002640 associated hypertension pheochromocytoma with +HP:0002641 blood clot peripheral +HP:0002641 peripheral thrombosis +HP:0002642 arteriovenous celiac fistulas mesenteric vessels +HP:0002643 distress neonatal respiratory +HP:0002643 distress infantile respiratory +HP:0002643 distress newborn respiratory +HP:0002644 abnormality bone girdle morphology pelvic +HP:0002644 abnormal bone girdle pelvic shape +HP:0002644 abnormality girdle pelvic +HP:0002645 bones wormian +HP:0002645 bone cranial islands sutures within +HP:0002645 bones intrasutural +HP:0002645 bones intra sutural +HP:0002645 bones cranial extra sutures within +HP:0002647 aortic dissection +HP:0002647 artery away blood carries from heart inner large tear that wall +HP:0012735 coughing +HP:0012735 cough +HP:0012734 hypoglycemia ketotic +HP:0012734 blood ketotic low sugar +HP:0012737 intestinal polyp small +HP:0012736 delay developmental global profound +HP:0012736 profound psychomotor retardation +HP:0012731 anterior ectopic gland pituitary +HP:0012730 development failure tongue +HP:0012730 missing tongue +HP:0012730 aglossia +HP:0012730 absence tongue +HP:0012733 macule +HP:0012733 area discolored flat skin +HP:0012732 anomaly anorectal +HP:0007695 abnormal light pupillary reflex +HP:0007697 eyelid lower underdevelopment +HP:0007697 decreased eyelid lower size +HP:0007697 eyelids hypoplasia lower +HP:0007697 eyelid lower short +HP:0007697 eyelid hypotrophic lower +HP:0007697 eyelid lower small +HP:0007690 corneal dot dystrophy fingerprint map +HP:0012738 canine development failure +HP:0012738 canine missing +HP:0012738 agenesis canine +HP:0012738 development eye failure tooth +HP:0012738 eye missing tooth +HP:0012738 absence eye tooth +HP:0012738 absent canines +HP:0012738 absence canine +HP:0040230 decreased level tpa +HP:0040230 activator decreased level plasminogen tissue +HP:0008689 bilateral cryptorchidism +HP:0025404 abnormal fixation visual +HP:0006615 absent ossification rib utero +HP:0006615 absent calcification rib utero +HP:0006342 incisors lateral pointed upper +HP:0006342 incisors lateral maxillary peg shaped +HP:0006342 conical incisors lateral maxillary +HP:0006342 incisors lateral peg shaped upper +HP:0006342 conoid incisors lateral upper +HP:0006342 laterals peg +HP:0006342 cone incisors lateral shaped upper +HP:0006344 abnormality baby molar shape +HP:0006344 abnormality molar primary shape +HP:0006344 abnormality deciduous molar morphology +HP:0006344 abnormality molar morphology primary +HP:0006611 centers decreased number ossification sternal +HP:0006610 nipples spaced wide +HP:0006610 nipples spaced widely +HP:0006610 distance intermamillary wide +HP:0006349 agenesis dentition secondary +HP:0006349 absent permanent teeth +HP:0006349 development failure permanent teeth +HP:0006349 agenesis dentition permanent +HP:0006349 agenesis permanent teeth +HP:0006349 absence permanent teeth +HP:0006349 development failure secondary teeth +HP:0006349 missing teeth +HP:0009703 1st bone fusion hand involving long +HP:0009703 1st affecting metacarpal symphalangism +HP:0009703 first joint metacarpophalangeal synostosis +HP:0009703 1st involving metacarpal synostosis +HP:0006619 anterior calcifications punctate rib +HP:0012367 extra fontanelles +HP:0007964 degenerative vitreoretinopathy +HP:0007965 evoked potentials undetectable visual +HP:0007965 undetectable vep +HP:0007965 absence evoked potentials visual +HP:0007965 detectable non vep +HP:0007962 corneal dystrophy speckled +HP:0007963 dystrophy pattern retina +HP:0007968 fetal persistent vasculature +HP:0007968 hypertrophic persistent primary vitreous +HP:0007968 lentis persistent tunica vasculosa +HP:0007968 hyperplastic persistent primary vitreous +HP:0007968 retinal septum +HP:0007968 hyaloid remnants system vascular +HP:0007968 hyperplasia persistent primary vitreous +HP:0007968 fetal fibrovascular lens persistent posterior sheath +HP:0012364 hypokaluria +HP:0012364 levels low potassium urine +HP:0012364 decreased potassium urinary +HP:0009999 bones duplication hand partial +HP:0009999 duplication hand partial phalanx +HP:0009998 bones complete duplication hand +HP:0009998 complete duplication hand phalanx +HP:0009991 bone complete duplication finger outermost pinky +HP:0009991 5th complete distal duplication finger phalanx +HP:0009991 bone complete duplication finger outermost pinkie +HP:0009991 bone complete duplication finger little outermost +HP:0009990 bone duplication finger innermost little +HP:0009990 5th duplication finger phalanx proximal +HP:0009990 bone duplication finger innermost pinkie +HP:0009990 5th complete duplication finger partial phalanx proximal +HP:0009990 bone duplication finger innermost pinky +HP:0009993 bone complete duplication finger innermost little +HP:0009993 5th complete duplication finger phalanx proximal +HP:0009993 bone complete duplication finger innermost pinkie +HP:0009993 bone complete duplication finger innermost pinky +HP:0009992 5th complete duplication finger middle phalanx +HP:0009992 bone complete duplication finger middle pinkie +HP:0009992 bone complete duplication finger middle pinky +HP:0009992 bone complete duplication finger little middle +HP:0009995 5th duplication finger middle partial phalanx +HP:0009995 bone duplication finger little middle partial +HP:0009995 bone duplication finger middle partial pinkie +HP:0009995 bone duplication finger middle partial pinky +HP:0012365 hypophosphaturia +HP:0012365 levels low phosphate urine +HP:0009997 bones duplication finger +HP:0009997 duplication hand phalanx +HP:0009996 bone duplication finger innermost partial pinky +HP:0009996 5th duplication finger partial phalanx proximal +HP:0009996 bone duplication finger innermost little partial +HP:0009996 bone duplication finger innermost partial pinkie +HP:0002296 hypotrichosis progressive +HP:0008005 corneal dystrophy +HP:0025441 achilles calcification tendon +HP:0025440 autoantibody positivity reactive warm +HP:0012362 abnormal glycosylation linked o protein sialylation +HP:0025443 abnormal atrial cardiac physiology +HP:0031180 chronicum erythema migrans +HP:0031180 erythema migrans +HP:0025445 abnormality morphological muscles papillary +HP:0025444 amygdala reduced volume +HP:0025444 amygdala decrease volume +HP:0004923 hyperphenylalaninemia +HP:0004922 atypical hyperphenylalaninemia +HP:0004921 abnormal magnesium metabolism +HP:0004921 abnormality homeostasis magnesium +HP:0004921 abnormal concentration magnesium +HP:0004920 acidemia phenylpyruvic +HP:0004927 artery dilatation pulmonary +HP:0004926 autonomic due dysfunction hypotension orthostatic to +HP:0004925 acidosis chronic lactic +HP:0004637 limited movement neck +HP:0004637 cervical decreased mobility spine +HP:0025446 anomalous anterior directly insertion into leaflet mitral muscle papillary +HP:0001344 nonverbal +HP:0001344 development no speech +HP:0001344 lack speech +HP:0001344 absent speech +HP:0001344 absent development speech +HP:0001344 development lack language +HP:0001344 development language no or speech +HP:0001345 mentation psychotic +HP:0001694 left right shunt to +HP:0001347 deep increased reflexes tendon +HP:0001347 increased reflexes +HP:0001347 hyperreflexia +HP:0001692 arrhythmia atrial +HP:0001692 arrhythmia atrial primary +HP:0001693 cardiac shunt +HP:0001342 hemorrhage intracerebral +HP:0001342 bleeding brain +HP:0001342 cerebral hemorrhage +HP:0001342 hemorrhagic stroke +HP:0001343 kernicterus +HP:0001348 brisk reflexes +HP:0001349 bilateral facial paresis +HP:0001349 bilateral facial weakness +HP:0001349 diplegia facial +HP:0001698 around fluid heart +HP:0001698 effusion pericardial +HP:0001698 effusions pericardial +HP:0005195 arthropathy polyarticular +HP:0005194 bone flattened foot head long +HP:0005194 flattened heads metatarsal +HP:0005197 generalized morning stiffness +HP:0005191 dislocation knee +HP:0005191 birth dislocated knee since +HP:0005190 finger hyperextensibility joint proximal +HP:0025402 jerks square wave +HP:0008119 ankle bones deformed +HP:0008119 bones deformed tarsal +HP:0008116 flexion limitation toes +HP:0008117 neck shortening talar +HP:0008114 diaphyseal endosteal metatarsal sclerosis +HP:0008115 3rd clinodactyly toe +HP:0008115 3rd curvature toe +HP:0008112 contractures flexion plantar +HP:0008113 creases multiple plantar +HP:0008110 deformity equinovarus +HP:0008111 big broad distal toe +HP:0008111 broad distal hallux +HP:0500058 5b prematurity retinopathy stage +HP:0500058 5b rop stage +HP:0500059 i prematurity retinopathy zone +HP:0500059 1 rop zone +HP:0004828 anemia refractory ringed sideroblasts with +HP:0004828 myelodysplasia sideroblastosis with +HP:0009509 2nd distal finger phalanx pseudoepiphysis +HP:0004826 anemia folate megaloblastic unresponsive +HP:0500055 4b prematurity retinopathy stage +HP:0500055 4b rop +HP:0009504 2nd cone distal epiphysis finger phalanx shaped +HP:0009504 bone cone end finger index outermost part shaped +HP:0004825 affinity haemoglobin increased oxygen +HP:0004825 affinity hemoglobin increased oxygen +HP:0004822 atypical elliptocytosis +HP:0004823 anisopoikilocytosis +HP:0004820 acute leukemia myelomonocytic +HP:0009501 2nd abnormality epiphysis finger phalanx proximal +HP:0009501 2nd abnormality epiphyseal finger phalanx proximal +HP:0009501 abnormality bone end finger index outermost part +HP:0001528 asymmetric overgrowth +HP:0001528 asymmetric hypertrophy limb +HP:0001528 hemihypertrophy +HP:0030849 hepatojugular reflux +HP:0004635 c5 c6 cervical fusion vertebrae +HP:0001520 age for gestational large +HP:0001520 fetal macrosomia +HP:0001520 90th birth percentile weight +HP:0001520 macrosomia neonatal +HP:0001520 90th birthweight percentile +HP:0001520 macrosomia +HP:0030842 choking episodes +HP:0030841 pain toe +HP:0030840 ankle pain +HP:0030847 abnormal jugular pressure venous +HP:0001525 failure marked thrive to +HP:0001525 failure postnatal severe thrive to +HP:0001525 faltering severe weight +HP:0001525 failure severe thrive to +HP:0030845 eyelid heliotrope rash +HP:0030844 electroretinogram pattern undetectable +HP:0031185 increased level nt probnp +HP:0003187 breast hypoplasia +HP:0003187 breasts underdeveloped +HP:0006934 nystagmus +HP:0040238 chemotaxis impaired neutrophil +HP:0100689 corneal decreased thickness +HP:0100689 cornea thin +HP:0100685 abnormality fibers sharpey +HP:0100685 abnormality enthesis +HP:0100685 abnormal fiber morphology sharpey +HP:0100684 gland salivary tumor +HP:0100684 cancer gland salivary +HP:0100684 gland neoplasia salivary +HP:0100684 gland neoplasm salivary +HP:0100687 polyotia +HP:0100686 enthesitis +HP:0100686 fibers inflammation sharpey +HP:0100681 duplication esophageal +HP:0100682 atresia tracheal +HP:0040189 flaking skin +HP:0040189 desquamation +HP:0040189 peeling skin +HP:0040189 scaling skin +HP:0040189 scaly skin +HP:0040188 osteochondrosis +HP:0040181 cheilitis simplex +HP:0040181 cheilitis common +HP:0040181 dry lips +HP:0040181 chapped lips +HP:0040181 chapped lip +HP:0040181 dermatitis perioral +HP:0040180 hyperkeratosis pilaris +HP:0040183 soiling stool +HP:0040183 encopresis +HP:0040183 holding stool +HP:0040182 inappropriate sinus tachycardia +HP:0040185 macrothrombocytopenia +HP:0040185 macrothrombozytopenia +HP:0040184 bleeding oral +HP:0040184 hemorrhage oral +HP:0040187 neonatal sepsis +HP:0004633 back mid round +HP:0004633 kyphosis lower thoracic +HP:0002331 headache paroxysmal recurrent +HP:0002290 poliosis +HP:0002290 hair patch white 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+HP:0000347 mandibular micrognathia +HP:0000347 micromandible +HP:0000347 decreased mandible projection +HP:0000347 little mandible +HP:0000347 hypoplasia jaw lower +HP:0000347 mandible small +HP:0000347 mandible robin +HP:0000347 hypoplasia mandible +HP:0000347 decreased mandible size +HP:0000347 decreased jaw lower projection +HP:0000347 jaw lower underdevelopment +HP:0000347 jaw lower small +HP:0000347 deficiency jaw lower +HP:0000347 hypotrophic jaw lower +HP:0000347 condyle hypoplastic mandible +HP:0000347 mandible underdevelopment +HP:0000347 hypotrophic mandible +HP:0000347 jaw lower micrognathia +HP:0000347 hypoplastic mandible +HP:0000347 hypoplasia mandible severe +HP:0000347 mandibular retrognathia +HP:0000347 micrognathia +HP:0000347 jaw lower retrusion +HP:0000347 jaw lower retrognathia +HP:0000347 hypoplasia mandibular +HP:0000347 jaw small +HP:0000347 decreased jaw lower size +HP:0000347 mandibular retrusion +HP:0000347 jaw little lower +HP:0000347 deficiency mandibular +HP:0004632 cervical defect segmentation +HP:0004632 cervical defect segmentation spine +HP:0003698 difficulty standing +HP:0003698 instability standing +HP:0000315 abnormality eye region +HP:0000315 deformity face orbital region +HP:0000315 abnormality orbital region +HP:0000315 anomaly face orbital region +HP:0000315 abnormality around eyes region +HP:0000315 face malformation orbital region +HP:0031288 cobblestone hyperkeratosis like +HP:0003690 limb weakness +HP:0003690 limb muscle weakness +HP:0003691 scapular winging +HP:0003691 alata scapula +HP:0003691 blade shoulder winged +HP:0003691 scapular weakness +HP:0003691 scapulas winged +HP:0003691 scapulae winged +HP:0031186 abnormal circulating deoxycorticosterone level +HP:0003693 degeneration distal muscle +HP:0003693 amyotrophy distal +HP:0003693 amyotrophy distal especially feet hands +HP:0003693 atrophy distal muscle +HP:0003693 atrophy distal limb muscle +HP:0003693 amyotrophy distal limb muscles +HP:0003693 atrophy distal limbs lower muscle upper +HP:0003693 atrophy distal muscular +HP:0003693 distal muscle wasting +HP:0003694 late muscle onset proximal weakness +HP:0003696 absent bone end finger little outermost part +HP:0003696 absent bone end finger outermost part pinky +HP:0003696 absent bone end finger outermost part pinkie +HP:0003696 5th absent distal epiphysis finger phalanx +HP:0003697 atrophy scapuloperoneal +HP:0003697 amyotrophy scapuloperoneal +HP:0040233 a deficiency factor subunit xiii +HP:0040233 a factor reduced subunit xiii +HP:0040232 bleeding delayed onset +HP:0040231 abnormal bleeding onset +HP:0001839 claw deformity foot lobster +HP:0001839 ectrodactyly foot +HP:0001839 foot split +HP:0040237 disease ii normandy type von willebrand +HP:0040237 binding factor impaired to viii vwf +HP:0040236 hyperfibrinolysis +HP:0040235 bodies dohle inclusion leukocyte like +HP:0040235 bodies inclusion leukocytes +HP:0040235 bodies inclusion leukocyte +HP:0040234 b deficiency factor subunit xiii +HP:0040234 b factor reduced subunit xiii +HP:0001832 abnormal metatarsal morphology +HP:0001832 abnormality bone foot long +HP:0001833 foot long +HP:0001833 disproportionately feet large +HP:0001833 feet large +HP:0001833 feet long +HP:0001830 fibular polydactyly +HP:0001830 5th affecting polydactyly toe +HP:0001830 attached extra little near toe +HP:0001830 foot polydactyly postaxial +HP:0001830 foot polydactyly posterior +HP:0001830 feet polydactyly postaxial +HP:0004631 chest chin inability to touch +HP:0004631 cervical contractures decreased due flexion muscles posterior spine to +HP:0004631 cervical contracture muscles post +HP:0001836 camptodactyly toe +HP:0001836 camptodactyly feet +HP:0001837 broad toe +HP:0001837 toe wide +HP:0010193 bone duplication outermost toe +HP:0010193 complete distal duplication partial phalanges toes +HP:0010193 distal duplication phalanx toe +HP:0010609 acrochorda +HP:0010609 skin tags +HP:0010608 bump eyelid inner on red +HP:0010608 hordeolum internum +HP:0010608 eyelid inner stye +HP:0010620 cheekbone prominence +HP:0010620 bones hyperplasia malar +HP:0010620 malar prominent region +HP:0010620 excess malar +HP:0010620 malar prominence +HP:0010620 hyperplasia malar +HP:0010603 jaw keratocysts odontogenic +HP:0010603 jaw keratocysts +HP:0010603 keratocystic odontogenic tumor +HP:0010602 2 fiber muscle predominance type +HP:0010602 fiber ii muscle predominance type +HP:0010601 abnormality epiphysis proximal ulnar +HP:0010600 abnormality distal epiphysis ulnar +HP:0010607 externum hordeolum +HP:0010606 hordeolum +HP:0010606 eyelid stye +HP:0010606 bump eyelid on red +HP:0010605 gland lipogranuloma meibomian +HP:0010605 chalazion +HP:0010604 eyelid lesion +HP:0010604 bump eyelid +HP:0010604 cyst eyelid +HP:0010604 eyelid mass +HP:0005339 abnormality complement system +HP:0005338 eyebrow lateral sparse +HP:0005338 eyebrows laterally sparse +HP:0005338 eyebrows lateral thinning +HP:0005338 eyebrow laterally sparse +HP:0005338 end eyebrow hair limited on +HP:0005338 eyebrows hypoplasia lateral +HP:0005338 eyebrows lateral sparse +HP:0010622 bone neoplasm +HP:0010622 neoplasia skeletal system +HP:0010622 skeletal tumor +HP:0010622 neoplasm skeletal system +HP:0005449 bridged sella turcica +HP:0000128 potassium renal wasting +HP:0000127 salt wasting +HP:0000127 loss salt urine +HP:0000127 renal salt wasting +HP:0005446 angle mandibular plane steep +HP:0005446 angle high mandibular plane +HP:0005446 angle mandible obtuse +HP:0000125 kidney sacral +HP:0000125 kidney pelvic +HP:0005332 mandibular recurrent subluxations +HP:0005335 expression facial somnolent +HP:0005335 expression facial sleepy +HP:0000122 absent kidney on one side +HP:0000122 kidney single +HP:0000122 agenesis kidney unilateral +HP:0000122 agenesis renal unilateral +HP:0000122 kidney missing one +HP:0005441 cranial sclerotic sutures +HP:0009349 bone end enlarged finger innermost long middle part +HP:0009349 epiphysis finger large middle phalanx proximal +HP:0009349 3rd enlarged epiphysis finger phalanx proximal +HP:0008615 hearing late loss sensorineural +HP:0008615 adult hearing impairment onset sensorineural +HP:0008615 deafness late onset sensorineural +HP:0010195 broad middle phalanges toes +HP:0010195 bones broad middle toes +HP:0009536 finger index phalanges short +HP:0009536 finger hypoplastic index small +HP:0009536 2nd finger short +HP:0009536 finger index short +HP:0009536 fingers index short +HP:0009536 finger hypoplastic index phalanges +HP:0003474 hypoaesthesia +HP:0003474 hypoesthesia +HP:0003474 impairment sensory +HP:0004315 decreased igg serum +HP:0004315 decreased expression gamma globin +HP:0004315 decreased igg level +HP:0004315 igg levels reduced +HP:0004315 circulating decreased igg level +HP:0004315 deficiency igg +HP:0004315 decreased g immunoglobulin +HP:0010194 absent bones middle small toe +HP:0010194 aplasia hypoplasia middle phalanges toes +HP:0010194 absent bones middle toe underdeveloped +HP:0003470 inability move to +HP:0003470 paralysis +HP:0004311 abnormality macrophages +HP:0004311 abnormal macrophage morphology +HP:0004311 abnormality histiocytes +HP:0004312 abnormality reticulocytes +HP:0004313 hypogammaglobulinemia +HP:0004313 decreased immunoglobulin level +HP:0004313 decreased immunoglobulin serum +HP:0004313 antibody blood decreased level +HP:0004313 immunoglobulin levels reduced +HP:0004313 deficiency immunoglobulin +HP:0009345 3rd delta distal epiphysis finger phalanx shaped +HP:0009345 bone end finger long middle outermost part triangular +HP:0009345 3rd distal epiphysis finger phalanx triangular +HP:0002877 hypoventilation nocturnal +HP:0002877 breathing nocturnal under +HP:0002877 hypopnea nocturnal +HP:0002877 breathing nocturnal slow +HP:0002876 episodic tachypnea +HP:0002876 episodic hyperpnea +HP:0002875 dyspnea exertional +HP:0002872 apneic by episodes fatigue illness precipitated stress +HP:0002872 apnea by episodic febrile illness induced or stress +HP:0002871 apnoea central +HP:0002871 apnea central +HP:0002870 apnea obstructive sleep +HP:0002870 apnoea obstructive sleep +HP:0010465 females precocious puberty +HP:0010464 ovary streak +HP:0010463 absent bilateral ovaries +HP:0010463 aplasia ovaries +HP:0010463 absent ovary +HP:0010463 aplasia ovary +HP:0010462 aplasia hypoplasia ovary +HP:0010462 absent ovary underdeveloped +HP:0010462 absent ovary small +HP:0002879 anisospondyly +HP:0002878 failure respiratory +HP:0009912 abnormality tragus +HP:0012368 facial flat profile +HP:0012368 facial flat shape +HP:0012368 face flat +HP:0012368 facies flat +HP:0002028 diarrhea recurrent +HP:0002028 chronic diarrhea +HP:0010849 3 4 eeg hz spike waves with +HP:0010849 3 5 complexes eeg hz spike wave with +HP:0009534 2nd epiphysis finger phalanx proximal triangular +HP:0009534 bone end finger index innermost long part triangular +HP:0009534 epiphysis finger index phalanx proximal triangular +HP:0010848 2 3 5 complexes eeg hz spike wave with +HP:0003458 emg myopathy +HP:0003458 electromyogram myopathic +HP:0003458 abnormalities emg myopathic +HP:0003458 changes emg myopathic +HP:0002024 intestinal malabsorption +HP:0002024 malabsorption +HP:0004339 abnormality acid amino metabolism sulfur +HP:0004339 abnormality acids amino containing sulfur +HP:0012369 bones malar malformation +HP:0012369 anomaly bones malar +HP:0012369 anomaly malar +HP:0012369 bones deformity malar +HP:0012369 abnormality bones malar +HP:0002025 anal narrowing opening +HP:0002025 anal stenosis +HP:0002986 bowing radial +HP:0002986 bowed radius +HP:0002986 bowed radii +HP:0002986 bone bowing forearm large outer +HP:0002986 bone bowing forearm radius +HP:0009533 2nd epiphysis finger phalanx proximal stippling +HP:0009533 bone calcifications end finger index innermost long part speckled +HP:0000927 abnormality maturation skeletal +HP:0001792 hypoplastic nails +HP:0001792 nails small +HP:0001792 hypoplasia nail +HP:0001792 hypoplastic nail +HP:0001792 nail small +HP:0004332 abnormal lymphocyte morphology +HP:0004332 abnormal lymphocytes +HP:0004332 abnormality cells lineage lymphoid +HP:0001022 achromasia +HP:0001022 albinism +HP:0011808 decreased patellar reflex +HP:0011808 decreased patellar reflexes +HP:0011808 decreased jerk knee reflex +HP:0003453 antibody antineutrophil positivity +HP:0003453 antibody neutrophil positive +HP:0003453 antibodies antineutrophil +HP:0011807 1 atrophy fiber muscle type +HP:0011804 function issue muscle with +HP:0011804 abnormality muscle physiology +HP:0011805 abnormally muscle shaped +HP:0011805 issue muscle structure with +HP:0011805 abnormal morphology muscle +HP:0011805 abnormality morphology muscle +HP:0011802 hamartoma lingual +HP:0011802 hamartoma tongue +HP:0003102 angle carrying increased +HP:0009532 2nd epiphysis finger phalanx proximal small +HP:0009532 bond end finger index long part proximal small +HP:0011801 gland hyperplasia parotid +HP:0011801 enlargement gland parotid +HP:0011801 gland hypertrophy parotid +HP:0011801 gland increased parotid size +HP:0004331 mineralized poorly skull +HP:0004331 hypoossification skull +HP:0004331 decreased mineralization skull +HP:0004331 decreased ossification skull +HP:0004331 bone decreased formation skull +HP:0004331 calcification decreased skull +HP:0004331 defect ossification skull +HP:0004331 ossified poorly skull +HP:0004331 bones ossified poorly skull +HP:0004331 deficient ossification skull +HP:0001027 doughy skin soft +HP:0004336 foldings irregular myelin +HP:0004336 myelin outfoldings +HP:0004336 excessive focal folding myelin sheaths +HP:0003105 at bones ends long protuberances +HP:0002253 colon diverticula +HP:0002253 colonic diverticula +HP:0002253 colonic diverticulosis +HP:0002251 disease hirschsprung +HP:0002251 hirschsprung megacolon +HP:0002251 aganglionic megacolon +HP:0002251 megacolon +HP:0002251 cells colon enlarged lacking nerve +HP:0002250 abnormal intestine large morphology +HP:0002250 abnormality intestine large +HP:0002257 chronic rhinitis +HP:0004334 atrophic skin +HP:0004334 atrophy skin +HP:0004334 atrophy dermal +HP:0004334 degeneration skin +HP:0002339 abnormality caudate nucleus +HP:0002339 abnormal caudate morphology nucleus +HP:0001028 mark strawberry +HP:0001028 hemangiomata +HP:0001028 hemangioma +HP:0030388 b cells class decreased memory proportion switched +HP:0003107 abnormality cholesterol metabolism +HP:0030389 abnormality metabolism thromboxane +HP:0012120 acid blood high levels methylmalonic +HP:0012120 methymalonicaciduria +HP:0012120 aciduria methylmalonic +HP:0012121 panuveitis +HP:0012122 anterior uveitis +HP:0012123 choroiditis +HP:0012123 posterior uveitis +HP:0012124 intermediate uveitis +HP:0012125 cancer prostatic +HP:0012125 cancer prostate +HP:0012126 cancer gastric +HP:0012126 cancer stomach +HP:0012127 high levels uracil urine +HP:0012127 uraciluria +HP:0003756 myopathy skeletal +HP:0012129 abnormality bone cells marrow stromal +HP:0012228 headache tension type +HP:0012227 stricture urethral +HP:0011738 corticotropin defect hormone receptor releasing +HP:0011738 crhr defect +HP:0011738 corticotropin crhr hormone receptor releasing resistance +HP:0011739 dexamethasone hyperaldosteronism primary suppresible +HP:0011739 1 familial hyperaldosteronism primary type +HP:0011739 aldosteronism familial glucocorticoid primary remediable +HP:0012226 ovarian teratoma +HP:0011734 adrenal insufficiency secondary +HP:0011734 adrenal central insufficiency +HP:0011735 adrenal adrenocorticotropin deficient insufficiency +HP:0011735 acth adrenal deficient insufficiency +HP:0011736 hyperaldosteronism primary +HP:0011737 adrenal insufficiency tertiary +HP:0011737 adrenal crh deficient insufficiency +HP:0011737 adrenal corticotropin deficient hormone insufficiency releasing +HP:0011730 abnormality central function sensory +HP:0011731 abnormality circulating cortisol level +HP:0011732 abnormality adrenal morphology +HP:0011733 abnormality adrenal physiology +HP:0012890 anus placed posteriorly +HP:0012224 circulating complexes immune +HP:0009699 bones defects hand lytic +HP:0009699 bones defects hand osteolytic +HP:0009696 bone end part thumb triangular +HP:0009696 epiphyses thumb triangular +HP:0009697 contracture distal fingers interphalangeal joint +HP:0009694 epiphysis small thumb +HP:0009694 epiphyses small thumb +HP:0009694 bone end long part small thumb +HP:0009695 bone calcifications end part speckled thumb +HP:0009695 epiphysis stippling thumb +HP:0009695 epiphyses stippling thumb +HP:0009692 epiphyses ivory thumb +HP:0009692 bone density end increased part thumb +HP:0009692 epiphysis ivory thumb +HP:0008019 lens subluxation superior +HP:0008019 lens subluxated superior +HP:0009690 epiphyses fragmentation thumb +HP:0009690 bone end fragmentation long part thumb +HP:0009690 epiphysis fragmentation thumb +HP:0009691 bone end irregular long part thumb +HP:0009691 epiphysis irregular thumb +HP:0009691 epiphyses irregular thumb +HP:0012893 hypertrophy muscle neck +HP:0012893 hyperplasia muscles neck +HP:0012893 increased muscles neck size +HP:0012893 muscles neck overgrowth +HP:0012893 large muscles neck +HP:0012893 cervical hypertrophy muscles +HP:0012894 hypertrophy muscle paraspinal +HP:0012220 caseating cell epithelioid granulomatosis non +HP:0100308 cerebral cortical hemiatrophy +HP:0100309 haematoma subdural +HP:0100309 hemorrhage subdural +HP:0030027 cartilage deformity nose +HP:0030027 cartilage malformation nose +HP:0030027 anomaly cartilage nose +HP:0030027 cartilage deformity nasal +HP:0030027 abnormality cartilage nasal +HP:0030027 abnormality cartilage nose +HP:0030027 cartilage malformation nasal +HP:0030027 anomaly cartilage nasal +HP:0012387 bronchitis +HP:0030021 auricular tag +HP:0000262 turricephaly +HP:0000262 cranium shape tower +HP:0000262 cranium shaped tall +HP:0000262 head shaped tall +HP:0000262 shaped skull tall +HP:0000262 shape skull tower +HP:0012382 left right shunt to +HP:0030022 ear mark question +HP:0030022 ears mark question +HP:0030022 cosman ear +HP:0030022 constricted ear +HP:0100300 bodies desmin +HP:0100301 aggregates fiber muscle tubular +HP:0100301 fiber inclusions muscle tubular +HP:0100302 aggregates fiber muscle tubuloreticular +HP:0100302 fiber inclusions muscle tubuloreticular +HP:0100303 bodies cytoplasmic fiber muscle +HP:0100303 bodies cytoplasmatic fiber inclusion muscle +HP:0100304 bodies fiber inclusion intranuclear muscle +HP:0012389 appendicular hypotonia +HP:0100306 bodies fiber hyaline muscle +HP:0007200 episodic hypersomnia +HP:0025162 severe tantrums temper +HP:0025163 abnormality chiasm morphology optic +HP:0025160 abnormal tantrums temper +HP:0025161 frequent tantrums temper +HP:0025166 dermis elastic fibers thickened +HP:0025167 dermis elastic fibers fragmented +HP:0025164 dermis elastic fibers increased number +HP:0025165 clumping dermis elastic fibers +HP:0025168 diastolic dysfunction left ventricular +HP:0025169 dysfunction left systolic ventricular +HP:0009485 deviation fingers hand or radial +HP:0001757 frequency hearing high impairment sensorineural +HP:0001757 hearing high impairment sensorineural tone +HP:0001757 deafness high sensorineural tone +HP:0001756 hypofunction vestibular +HP:0001751 defect function vestibular +HP:0001751 dysfunction vestibular +HP:0001751 function impaired vestibular +HP:0001751 dysfunction interictal vestibular +HP:0001750 common ventricle +HP:0001750 single ventricle +HP:0004401 ileus meconium +HP:0004401 ileus meconium on ultrasonography +HP:0004401 ileus meconium neonates +HP:0004401 distal intestinal obstruction syndrome +HP:0008014 arteriolar central fundal microaneurysms +HP:0500159 acid aspartic blood high levels +HP:0500159 acid aspartic blood increased +HP:0500159 acid aspartic increased level +HP:0100816 darkening lips skin +HP:0100816 increased lips on pigmentation +HP:0100816 hyperpigmentation lip +HP:0100816 hyperpigmentation lip vermillion +HP:0004563 bone dense spinal +HP:0004563 bone concrete spinal +HP:0004563 bone density increased spinal z +HP:0004563 bone ivory spinal +HP:0004563 bone eburnation spinal +HP:0004563 bone sclerosis spinal +HP:0004563 bone density increased spinal +HP:0004563 bone compact spinal +HP:0045050 dlco increased +HP:0045050 capacity diffusing increased +HP:0045051 decreased dlco +HP:0045051 capacity decreased diffusing +HP:0045052 abnormality brachial nerve plexus +HP:0045053 abnormality lumbosacral nerve plexus +HP:0045054 brachial neuropathy plexus +HP:0045055 banding tail tiger +HP:0045056 abnormal alpha fetoprotein levels +HP:0045057 alpha decreased fetoprotein levels +HP:0045058 abnormality size testis +HP:0045059 hyperkeratotic papule +HP:0010991 abdominal abnormality musculature +HP:0100811 aplasia colon hypoplasia +HP:0100811 absent colon underdeveloped +HP:0100811 absent colon small +HP:3000007 abnormality mentalis muscle +HP:3000006 abnormality medial muscle pterygoid +HP:0010997 cellular increased radiosensitivity +HP:0010997 chromosome induced instability radiation +HP:0010997 breakage by chromosomal induced ionizing radiation +HP:0030242 portal thrombosis vein +HP:0030242 blood clot portal vein +HP:3000005 abnormality masseter muscle +HP:0010996 abnormality acid metabolism monocarboxylic +HP:3000072 abnormal levator morphology palpebrae superioris +HP:3000073 abnormality levator muscle palatini veli +HP:3000070 abnormality anguli levator oris +HP:3000071 abnormality labii levator superioris +HP:3000076 abnormality lingual tonsil +HP:0010995 abnormality acid dicarboxylic metabolism +HP:3000074 abnormality artery lingual +HP:3000074 abnormal artery lingual morphology +HP:3000075 abnormality lingual nerve +HP:3000075 abnormal lingual morphology nerve +HP:3000003 abnormality mandibular ramus +HP:3000003 abnormal mandibular morphology ramus +HP:3000078 abnormal coronoid mandible morphology process +HP:3000078 abnormality coronoid mandible process +HP:3000079 abnormality mandible symphysis +HP:3000079 abnormality mandibular symphysis +HP:0009272 absent bone finger ring underdeveloped +HP:0009272 absent bone finger ring small +HP:0009272 4th aplasia finger hypoplasia +HP:0500153 arginine blood concentration increased +HP:0500153 hyperargininemia +HP:0500153 arginine blood high levels +HP:3000002 abnormal ear epithelium inner morphology +HP:0031808 basophil count decreased +HP:0031778 incyclophoria +HP:0009220 4th epiphysis finger ivory middle phalanx +HP:0009220 bone density end finger increased middle part ring +HP:0031809 archibald s sign +HP:0031809 archibald metacarpal s sign +HP:0031809 dimple knuckle +HP:0031772 abnormal artery circulating morphology posterior +HP:0031773 aneurysm artery communicating posterior +HP:0031770 epicanthus palpebralis +HP:0012552 increased neutrophil nuclear projections +HP:0031776 cyclotropia +HP:0031777 cyclophoria +HP:0031774 artery communicating infundibulum posterior +HP:0009226 fifth finger phalanx proximal short +HP:0009226 bone finger innermost little short +HP:0009226 bone finger innermost pinkie short +HP:0009226 bone finger innermost pinky short +HP:0009226 5th finger hypoplastic phalanx proximal small +HP:0009226 5th finger phalanx proximal short +HP:0006402 limbs outer part short +HP:0006402 distal limbs shortening +HP:0006400 absent epiphyses knee +HP:0006400 absent end knee part +HP:0006406 club end innermost shaped thighbone +HP:0006406 club femur proximal shaped +HP:0006407 end irregular outermost part thighbone +HP:0006407 distal epiphysis femoral irregular +HP:0006155 bone finger long +HP:0006155 finger long phalanx +HP:0006408 end outermost tapering thighbone +HP:0006408 distal femur tapering +HP:0006157 creases flexion palmar prominent +HP:0006157 life line prominent +HP:0006150 deformities fingers like neck swan +HP:0006152 fused hinge innermost joints +HP:0006152 interphalangeal joint proximal synostoses +HP:0006152 hands proximal symphalangism +HP:0006153 bone disharmonious wrist +HP:0006153 bone carpal disharmonious +HP:0009539 2nd contracture finger joint metacarpophalangeal +HP:0100375 3rd aplasia hypoplasia phalanx proximal toe +HP:0100375 3rd absent bone innermost small toe +HP:0100375 3rd absent bone innermost toe underdeveloped +HP:0012635 hypoperfusion iris +HP:0012558 abnormal ratio t3 t4 +HP:0031408 cd25 cells increased mast proportion +HP:3000009 abnormality muscle nasalis +HP:3000008 abnormality muscle mylohyoid +HP:0000804 stones xanthine +HP:0000804 stones urinary xanthine +HP:0000804 nephrolithiasis xanthine +HP:0000805 enuresis +HP:0000807 glandular hypospadias +HP:0000800 cystic dysplasia renal +HP:0000800 bilateral cystic dysplasia +HP:0000802 a difficulty erection full getting +HP:0000802 an difficulty erection getting +HP:0000802 impotence +HP:0000802 dysfunction erectile +HP:0000803 cortical cysts +HP:0000803 cortical cysts renal +HP:0000808 hypospadias penoscrotal +HP:0000809 atresia tract urinary +HP:0031805 hemorrhage intraretinal +HP:0007987 defects field progressive visual +HP:0030269 elevated igf1 serum +HP:0030269 1 factor growth increased insulin like serum +HP:0030269 igf1 increased serum +HP:0031309 artery calcification cerebral +HP:0030268 callus formation hyperplastic +HP:0031706 chin compensatory depression +HP:0031303 arterial calcification femoral +HP:0031302 arterial calcification extremity lower peripheral +HP:0031302 artery calcification extremity lower peripheral +HP:0031301 artery calcification peripheral +HP:0031301 arterial calcification peripheral +HP:0031300 abnormal circulating level properdin +HP:0031307 artery calcification carotid internal +HP:0031306 arterial calcification intracranial +HP:0031305 arterial calcification tibial +HP:0031304 arterial calcification iliac +HP:0030964 abnormal aortic physiology +HP:0030249 enanthema +HP:0004565 platyspondyly severe +HP:0004565 extreme platyspondyly +HP:0011748 adrenocorticotropic deficiency hormone +HP:0011748 acth deficiency +HP:0011748 corticotropin deficiency +HP:0000753 abilities autism cognitive high with +HP:0030967 abnormal artery physiology pulmonary +HP:0031700 infection invasive parasitic +HP:0007479 bullous ichthyosis non +HP:0007479 ichthyosis nonblistering +HP:0007479 ichthyosis lammellaris +HP:0007479 ichthyosis lamellar +HP:0007479 ichthyosis nonbullous +HP:0007479 baby collodion +HP:0007479 erythroderma ichthyosiform nonbullous +HP:0030267 calcification forearm interosseus membrane +HP:0030266 abnormality notch sacroiliac +HP:0008327 microscopic nephrocalcinosis +HP:0008326 b6 levels reduced vitamin +HP:0008326 b6 deficiency vitamin +HP:0008321 activity factor reduced x +HP:0008321 deficiency factor x +HP:0008321 activity decreased factor x +HP:0008320 aggregation collagen impaired induced platelet +HP:0008323 abnormal adapted dark electroretinogram light +HP:0008323 abnormal cone electroretinogram rod +HP:0008322 abnormal mitochondrion morphology +HP:0008322 abnormal mitochondrial morphology +HP:0001249 intelligence low +HP:0001249 disability intellectual nonprogressive +HP:0001249 mental nonprogressive retardation +HP:0001249 disability intellectual +HP:0001249 deficiency mental +HP:0001249 dull intelligence +HP:0001249 mental retardation +HP:0001249 performance poor school +HP:0001249 mental nonspecific retardation +HP:0009279 deviation finger radial ring +HP:0009279 4th deviation finger radial +HP:0030969 abnormal physiology pulmonary vein +HP:0009335 absent bone end finger middle outermost part +HP:0009335 3rd absent distal epiphysis finger phalanx +HP:0009334 3rd abnormality epiphysis finger middle phalanx +HP:0009334 abnormality bone end finger middle part +HP:0009337 3rd cone distal epiphysis finger phalanx shaped +HP:0009337 bone cone end finger middle outermost part shaped +HP:0100762 haemobilia +HP:0100762 hemobilia +HP:0009331 3rd epiphysis finger middle phalanx triangular +HP:0009331 bone end finger middle part triangular +HP:0009331 3rd delta epiphysis finger middle phalanx shaped +HP:0009330 bone calcifications end finger middle part speckled +HP:0009330 3rd epiphysis finger middle phalanx stippling +HP:0009333 3rd abnormality epiphysis finger phalanx proximal +HP:0009333 abnormality bone end finger innermost middle part +HP:0009332 3rd abnormality distal epiphysis finger phalanx +HP:0009332 abnormality bone end finger middle outermost part +HP:0011140 duplication gastrointestinal +HP:0009339 bone end finger fragmentation middle outermost part +HP:0009339 3rd distal epiphysis finger fragmentation phalanx +HP:0009338 3rd bone end enlarged finger outermost part +HP:0009338 3rd distal enlarged epiphysis finger phalanx +HP:0000668 between development failure one six teeth +HP:0000668 between missing one six teeth +HP:0000668 hypodontia +HP:0010817 linear nevus sebaceous +HP:0010814 abnormal hair location swirl +HP:0010814 abnormal hair position whorl +HP:0010815 mole 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diaphyses limbs upper +HP:0003861 bone limbs long shaft upper wide +HP:0007000 jerks morning myoclonic +HP:0100500 deviation lateral toes +HP:0100500 deviation fibular toes +HP:0008762 behavior compulsive repetitive +HP:0030230 central core fibers muscle regions +HP:0030231 accumulation fiber glycogen lysosomes muscle +HP:0030232 glycogen increased sarcoplasmic +HP:0030233 bethlem phenomenon +HP:0030233 bethlem sign +HP:0030234 creatine elevated highly phosphokinase +HP:0030235 creatine elevated extremely phosphokinase +HP:0030236 abnormality muscle size +HP:0030237 hand muscle weakness +HP:0030239 arm muscles underdeveloped upper +HP:0030239 arm hypoplasia musculature upper +HP:0100537 fasciitis +HP:0100537 fascia inflammation +HP:0100536 abnormality fascia +HP:0100535 diastasis tibiofibular +HP:0100534 episcleritis +HP:0100533 inflammation ocular +HP:0100533 abnormality eye inflammatory +HP:0100532 eye inflammation outer part white +HP:0100532 scleritis +HP:0100531 deformity knees swept wind +HP:0100530 abnormality calcium metabolism phosphate +HP:0100539 around eyes swelling +HP:0100539 periorbital swelling +HP:0100539 cellulitis periorbital +HP:0100539 around eyes puffiness +HP:0100539 eyes puffy +HP:0100539 edema periorbital +HP:0100538 deformity margins supraorbital +HP:0100538 malformation margins supraorbital +HP:0100538 abnormality ridges supraorbital +HP:0100538 deformity ridges supraorbital +HP:0100538 abnormality brow face +HP:0100538 malformation ridges supraorbital +HP:0040069 abnormality bone limb lower +HP:0002408 arteriovenous cerebral malformation +HP:0002408 av cerebral malformation +HP:0002406 dysmetria limb +HP:0002406 limb movement uncoordinated +HP:0002404 cerebellar peduncle superior thickened +HP:0002404 cerebellar peduncles thick +HP:0002403 positive romberg sign +HP:0002401 episodes strokelike +HP:0002401 episodes like stroke +HP:0002401 episode like stroke +HP:0003319 abnormality cervical spine +HP:0003319 abnormality cervical vertebrae 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deposits epidermal linear membrane zone +HP:0031540 along basement deposits epidermal igg linear membrane zone +HP:0006369 contour irregular patellar +HP:0006369 irregular margins patellar +HP:0006369 irregular patellae +HP:0006368 defects forearm reduction +HP:0031545 abnormally cell circle excision level low receptor t +HP:0031544 elevated level propionylcarnitine +HP:0031547 abnormal interval qt +HP:0031546 abnormality cardiac conduction +HP:0031546 conduction disorder heart +HP:0031546 abnormality cardiac conduction system +HP:0031549 fendt sarcoid spiegler +HP:0031549 cutis lymphocytoma +HP:0031549 pseudolymphoma skin +HP:0006362 deformity humeral neck varus +HP:0006361 epiphysis femoral irregular +HP:0006361 end irregular part thighbone +HP:0006367 bones crumpled long +HP:0006366 adductor contractures longus +HP:0031214 circulating decreased dehydroepiandrosterone level +HP:0000553 abnormal morphology uvea +HP:0000553 abnormality uvea +HP:0031217 flashes hot +HP:0031216 circulating increased progesterone +HP:0011937 fifth hypoplastic toenail +HP:0011937 fifth small toenail +HP:0011937 fifth toenail underdeveloped +HP:0025399 bud centrilobular hrct nodular on pattern pulmonary tree with +HP:0025398 hrct nodular on pattern perilymphatic pulmonary +HP:0025391 crazy hrct on pattern paving pulmonary +HP:0025390 hrct on pattern pulmonary reticular +HP:0025393 hrct on pattern pulmonary reticulonodular +HP:0025392 hrct nodular on pattern pulmonary +HP:0025395 combined cystic glass ground hrct on pattern pulmonary +HP:0025394 cystic hrct on pattern pulmonary +HP:0025397 attenuation hrct mosaic on pattern pulmonary +HP:0025396 black hrct lung on pattern pulmonary +HP:0025396 attenuation decreased hrct on pattern pulmonary +HP:0003116 abnormal echocardiography +HP:0003116 abnormal echocardiogram +HP:0006095 bone digital outermost tips wide +HP:0006095 distal phalanges tufts wide +HP:0006094 finger hypermobility joint +HP:0006094 finger increased joint mobility 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long lower third +HP:0400000 chin hyperplasia vertical +HP:0400000 chin height increased +HP:0400000 chin excess vertical +HP:0400000 height increased menton region +HP:0400000 chin long +HP:0400001 chin groove vertical with +HP:0400001 crease menton vertical +HP:0400001 chin cleft +HP:0400001 chin sulcus vertical with +HP:0400001 chin furrow vertical with +HP:0400001 chin crease vertical +HP:0400001 chin crease vertical with +HP:0400001 chin cleft skin vertical +HP:0400002 concha extra fold +HP:0012714 hearing loss severe +HP:0012714 hearing impairment severe +HP:0012714 deafness severe +HP:0400004 ear long +HP:0400004 ears long +HP:0012712 hearing impairment mild +HP:0012711 delayed epiphysis ossification vertebral +HP:0012711 bone delayed end maturation part vertebral +HP:0012710 ingrown nail +HP:0001298 encephalopathy +HP:0030196 fatigable muscles respiratory weakness +HP:0004789 intolerance milk +HP:0004789 intolerance lactose +HP:0002078 ataxia trunk +HP:0002078 central coordination instability lack muscles or trunk +HP:0002078 ataxia truncal +HP:0006895 hypertonia limb lower +HP:0006894 hypoplastic lobes olfactory +HP:0006897 cranial nerve palsy vi +HP:0006897 abducens nerve palsy +HP:0006897 abducens nerve paralysis +HP:0006897 denervation lateral muscle paresis rectus +HP:0006897 abducens nerve paresis +HP:0006896 hallucinations hypnopompic +HP:0006891 cerebral cortex thick +HP:0006893 cerebellum dysplastic severely +HP:0006892 atrophy cerebral frontotemporal +HP:0011932 abnormality cerebellar peduncle superior +HP:0006899 cerebellar fusion hemispheres +HP:0004945 artery carotid dissection extracranial internal +HP:0004944 aneurysm cerebral +HP:0004944 aneurysm brain +HP:0004944 aneurysm intracranial +HP:0004944 artery cerebral dilatation +HP:0004944 aneurysm artery cerebral +HP:0011329 abnormality bregma sutures +HP:0011329 abnormality cranial sutures +HP:0011329 abnormality calvarium sutures +HP:0011329 abnormality skull suture +HP:0004784 gastrointestinal juvenile polyposis +HP:0004941 extrahepatic hypertension portal +HP:0004940 arterial calcification generalized +HP:0001328 disability learning specific +HP:0004942 aortic dilatation +HP:0004942 aneurysm aortic +HP:0004942 artery away blood bulge carries from heart large that wall +HP:0001326 complexes eeg generalized irregular spike wave with +HP:0001327 photomyoclonic seizures +HP:0001324 muscle weakness +HP:0001324 muscular weakness +HP:0001325 coma hypoglycaemic +HP:0001325 coma hypoglycemic +HP:0001325 blood by caused coma low sugar +HP:0001325 consciousness due hypoglycemia loss to +HP:0001322 brain small very +HP:0004948 tortuosity vascular +HP:0004948 blood twisted vessels +HP:0001320 cerebellar hypoplastic vermis +HP:0001320 cerebellar hypoplasia vermis +HP:0001320 cerebellar hypoplasia vermal +HP:0001321 cerebellum hypoplastic +HP:0001321 cerebellum hypoplasia +HP:0001321 cerebellum underdeveloped +HP:0001321 cerebellar hypoplasia +HP:0001321 cerebellum small 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+HP:0008138 calcaneus deformity equinus +HP:0008138 calcaneus equinus +HP:0008138 equinus hindfoot +HP:0009520 2nd finger middle phalanx pseudoepiphysis +HP:0009521 2nd epiphysis finger middle phalanx small +HP:0009521 bone end finger index innermost long part small +HP:0009522 2nd epiphysis finger middle phalanx stippling +HP:0009522 bone calcifications end finger index middle part speckled +HP:0500035 granuloma nasolacrimal sac +HP:0009524 absent bone end finger index innermost long part +HP:0009524 2nd absent epiphysis finger phalanx proximal +HP:0500033 abnormal distribution killer natural subset +HP:0500030 abnormal glycogen hepatic storage +HP:0500031 bones carpal sclerosis +HP:0009528 bone end finger fragmentation index innermost long part +HP:0009528 2nd epiphysis finger fragmentation phalanx proximal +HP:0009529 bone end finger index innermost irregular long part +HP:0009529 2nd epiphysis finger irregular phalanx proximal +HP:0500039 cicatrization conjunctival +HP:0500039 cicatrizating conjunctivitis +HP:0500039 cicatricial conjunctivitis +HP:0500039 cicatricial conjunctival conjunctivitis +HP:0030829 abnormal breath sound +HP:0030828 wheezing +HP:0030799 scaphocephaly +HP:0030798 abnormality bed nucleus stria terminalis +HP:0030825 absent foveal reflex +HP:0030825 foveal loss reflex +HP:0030796 c increased level peptide +HP:0030795 c level peptide reduced +HP:0030826 around eyes twitching +HP:0030826 eyelid muscle twitches +HP:0030826 eyelid fluttering +HP:0030826 eye lid muscle twitches +HP:0030826 eyelid fasciculation +HP:0030821 eyelid hooded lower +HP:0030820 eyelid hooded +HP:0030823 sclera thick +HP:0030823 scleral thickening +HP:0030822 eyelid hooded upper +HP:0100298 fibers motheaten muscle +HP:0003110 issues pee +HP:0003110 abnormality homeostasis urine +HP:0003110 issues urine +HP:0011350 delay language mild receptive +HP:0100299 bodies fiber inclusion muscle +HP:0031542 fibers like myelin vacuolated whorls +HP:0031542 fibres like myelin vacuolated whorls +HP:0005557 abnormality arch zygomatic +HP:0005557 anomaly arch malar +HP:0005557 arch malar malformation +HP:0005557 arch deformity zygomatic +HP:0005557 abnormality arch malar +HP:0005557 arch deformity malar +HP:0005557 arch malformation zygomatic +HP:0005557 anomaly arch zygomatic +HP:0000924 anomalies skeletal +HP:0000924 abnormality skeletal system +HP:0000924 abnormalities skeletal +HP:0011520 deuteranomaly +HP:0011520 green weak +HP:0011520 deuteranomoly +HP:0000329 facial hemangiomata +HP:0000329 facial hemangioma +HP:0000325 face triangular +HP:0000325 broad chin face narrow temples with +HP:0000325 facial shape triangular +HP:0000325 facies triangular +HP:0000324 asymmetry face +HP:0000324 face unbalanced +HP:0000324 face sides unequal +HP:0000324 crooked face +HP:0000324 asymmetry facial +HP:0000324 face uneven +HP:0000324 asymmetric facies +HP:0000324 face sides uneven +HP:0000324 face unsymmetrical +HP:0000324 asymmetry face left right side +HP:0000327 micromaxilla +HP:0000327 decreased maxilla projection +HP:0000327 jaw retrognathia upper +HP:0000327 jaw retrusion upper +HP:0000327 decreased jaw size upper +HP:0000327 bones hypotrophic jaw upper +HP:0000327 maxilla small +HP:0000327 deficiency jaw upper +HP:0000327 bones jaw retrusion upper +HP:0000327 jaw small upper +HP:0000327 maxillary retrognathia +HP:0000327 bones hypoplasia jaw upper +HP:0000327 decreased jaw projection upper +HP:0000327 hypoplasia maxillary +HP:0000327 deficiency maxillary +HP:0000327 decreased maxilla size +HP:0000327 bones hypoplastic maxillary +HP:0000327 bones deficiency jaw upper +HP:0000327 bones jaw small upper +HP:0000327 maxillary micrognathia +HP:0000327 hypotrophic maxilla +HP:0000327 maxillary retrusion +HP:0000327 hypoplasia maxilla +HP:0000326 malformation maxilla +HP:0000326 anomaly maxilla +HP:0000326 abnormality bone jaw upper +HP:0000326 abnormality bones jaw upper +HP:0000326 abnormality maxilla +HP:0000326 deformity maxilla +HP:0000326 bones deformity jaw upper +HP:0000326 bones jaw malformation upper +HP:0000321 facies square +HP:0000321 facial shape square +HP:0000321 face square +HP:0000320 bird facies like +HP:0000320 appearance bird facial like +HP:0000322 decreased dimension philtrum vertical +HP:0000322 philtrum short +HP:0000322 decreased length philtrum +HP:0000322 decreased height philtrum +HP:0000322 hypoplasia philtrum vertical +HP:0040100 abnormality vestibular window +HP:0040100 abnormality oval window +HP:0040255 aplasia clitoris hypoplasia +HP:0040254 clitoris decreased size +HP:0040257 abnormal adenoids nasopharyngeal size +HP:0040256 adenoids aplastic hypoplastic nasopharyngeal +HP:0040256 absent adenoids or small +HP:0040251 dimples hand +HP:0040250 antigen prothrombin reduced +HP:0040253 clitoris increased size +HP:0040252 abnormal clitoris size +HP:0001814 deep nails set +HP:0005243 abdominal agenesis muscle partial +HP:0001816 nails thin +HP:0001816 nail thin +HP:0001817 aplasia fingernail 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hand maturation +HP:0010660 abnormality bones hand mineralisation ossification +HP:0010660 abnormal bones hand ossification +HP:0010660 abnormal bone hand ossification +HP:0010663 abnormality morphology thalamus +HP:0010663 abnormality thalamus +HP:0010663 abnormal shape thalamus +HP:0010662 abnormality diencephalon +HP:0005313 arterial dysplasia fibromuscular +HP:0000496 abnormal eye movement +HP:0000496 abnormalities eye movement +HP:0000496 abnormal extraocular movement +HP:0000496 abnormalities oculomotor +HP:0000496 abnormal extraocular movements +HP:0000496 abnormal eye globe motility +HP:0000496 abnormal eye movements +HP:0000496 abnormalities movement ocular +HP:0000496 abnormality eye movement +HP:0000496 abnormal eye globe movement +HP:0000496 eye issue movement +HP:0000496 abnormal eye motility +HP:0000496 abnormal movements ocular +HP:0000495 corneal erosions recurrent +HP:0000495 corneal recurrent ulceration +HP:0000495 breakdown clear eye layer protective recurrent +HP:0000495 corneal epithelial erosions +HP:0000495 corneal recurrent ulcerations +HP:0000495 corneal ulcerations +HP:0000494 antimongoloid fissures palpebral slanted +HP:0000494 down fissures palpebral slanting +HP:0000494 antimongoloid eye slant +HP:0000494 downward fissures palpebral slanting +HP:0000494 down fissures palpebral slanted +HP:0000494 downslanted fissures palpebral +HP:0000494 antimongoloid fissures palpebral slant +HP:0000494 downslanting fissure palpebral +HP:0000494 downward fissures palpebral slanted +HP:0000494 between downward eyelids opening slanting +HP:0000494 down fissure palpebral slanting +HP:0000494 downslanting fissures palpebral +HP:0000493 abnormality fovea +HP:0000493 abnormal foveal morphology +HP:0000492 abnormality eyelid +HP:0000492 abnormal eyelid morphology +HP:0000492 abnormality eyelids +HP:0000491 keratitis +HP:0000491 corneal inflammation +HP:0000490 enophthalmos +HP:0000490 deep eyes set +HP:0000490 depression ocular +HP:0000490 eye sunken +HP:0000490 deep eye set +HP:0000490 deeply eye set +HP:0000490 eyes sunken +HP:0005318 cerebral vasculitis +HP:0000499 abnormal eyelash morphology +HP:0000499 abnormality eyelash +HP:0000499 abnormal eyelashes +HP:0000499 abnormality eyelashes +HP:0000498 eyelids inflammation +HP:0000498 blepharitis +HP:0000498 cellulitis eyelids +HP:0003416 spinal stenosis +HP:0003416 canal narrow spinal +HP:0003416 canal spinal stenosis +HP:0004377 hematological neoplasm +HP:0004377 blood tumor +HP:0004374 body one or paralysis side weakness +HP:0004374 hemiparesis hemiplegia +HP:0004375 cancer nervous system +HP:0004375 neoplasia nervous system +HP:0004375 nervous system tumor +HP:0004375 neoplasm nervous system +HP:0004372 consciousness disturbances +HP:0004372 confusion consciousness reduced +HP:0004372 consciousness lowered +HP:0003413 abnormality atlantoaxial +HP:0004370 body changes temperature +HP:0004370 abnormality regulation temperature +HP:0004370 poor regulation temperature +HP:0003411 femoral irregular metaphyses proximal +HP:0003411 femoral irregularity metaphyseal proximal +HP:0003716 appearance birth from generalized muscular +HP:0003251 infertility male +HP:0003418 back pain +HP:0004379 abnormality activity alkaline phosphatase +HP:0004379 abnormal alkaline phosphatase +HP:0005245 hypoplasia intestinal +HP:0005245 hypoplastic intestines +HP:0005245 instestine underdeveloped +HP:0040214 abnormal insulin level +HP:0011639 anomalous artery coronary from origin pulmonary right +HP:0011638 anomalous artery coronary from left origin pulmonary +HP:0011638 bland garland syndrome white +HP:0011638 alcapa +HP:0011638 anomalous artery coronary from left pulmonary +HP:0010481 urethral valve +HP:0010480 fistula urethral +HP:0010483 amniotic arms constriction rings +HP:0010482 acromelia limbs upper +HP:0010485 at elbow hyperextensibility +HP:0010484 hypertrophy limb upper +HP:0010484 increased limb size upper +HP:0010487 eminence hypoplasia hypothenar +HP:0010487 hypoplasia hypothenar +HP:0010487 eminence hypothenar small +HP:0010486 abnormality eminence hypothenar +HP:0010489 aplasia creases palmar +HP:0010489 absent lines palm +HP:0010489 absence creases palmar +HP:0010489 absent crease palmar +HP:0010488 aplasia creases hypoplasia palmar +HP:0010488 absent crease palm small +HP:0010488 absent crease palm underdeveloped +HP:0007980 absent epithelium pigment retinal +HP:0011717 av nodal reentry tachycardia +HP:0011717 atrioventricular reentrant tachycardia +HP:0011635 absence diaphragmatic partial pericardium +HP:0011870 acid aggregation arachidonic impaired induced platelet +HP:0011351 delay language moderate receptive +HP:0011634 absence left partial pericardium sided +HP:0100676 lymphocele vaginal +HP:0100677 varicose vein vulval +HP:0100817 hypertension renovascular +HP:0100817 artery due hyperplasia hypertension renal to +HP:0011631 absence complete pericardium right sided +HP:0011630 absence complete diaphragmatic pericardium +HP:0005556 abnormality metopic suture +HP:0011633 absent around heart left lining side +HP:0011633 absence complete left pericardium sided +HP:0200106 absent arms dynein shortened +HP:0011632 absence partial pericardium right sided +HP:0031548 follicular infundibulum tumor +HP:0031548 basal cell differentiation follicular hamartoma with +HP:0006268 fluctuating splenomegaly +HP:0000048 bifid scrotum +HP:0000048 cleft scrotum +HP:0000048 cleft scrotal +HP:0003713 fiber muscle necrosis +HP:0000049 penis scrotum surrounds +HP:0000049 overriding scrotum +HP:0000049 scrotum shawl +HP:0010726 corneal fibers nerve prominent +HP:0010726 corneal fibers nerve visible +HP:0011820 atresia choanal membranous +HP:0011821 bones deformity facial +HP:0011821 deformity facial skeleton +HP:0011821 abnormality bones facial +HP:0011821 facial malformation skeleton +HP:0011821 anomaly bones facial +HP:0011821 anomaly facial skeleton +HP:0011821 abnormality facial skeleton +HP:0011821 bones facial malformation 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agyrophilic bodies inclusion +HP:0030009 cervical insufficiency +HP:0030009 cervix incompetent +HP:0030008 agenesis cervical +HP:0030008 aplasia cervical +HP:0030008 aplasia cervix +HP:0030008 absent cervix +HP:0030007 emg positive sharp waves +HP:0030006 abnormality emg fiber single +HP:0030005 capillary leak +HP:0030005 capillary leak syndrome systemic +HP:0030005 capillary increased permeability +HP:0030004 close due eyelids inability scarring to +HP:0030004 cicatricial lagophthalmos +HP:0030004 due eyelids open scarring stay to +HP:0030003 lagophthalmos paralytic +HP:0030002 lagophthalmos nocturnal +HP:0030002 at close eyelids inability night to +HP:0030002 at eyelids night open stay +HP:0030001 close eyelids inability to +HP:0030001 lagopthalmos +HP:0030001 eyelids open stay +HP:0030000 abnormality emg nerve repetitive stimulation +HP:0007777 chorioretinal scar +HP:0007776 eyelashes lower scanty +HP:0007776 eyelashes hypotrichosis lower +HP:0007776 eyelashes lower thin +HP:0007776 eyelashes lower sparse +HP:0007776 absence eyelashes lower partial +HP:0007774 body ciliary hypoplasia +HP:0007773 abnormality vitreoretinal +HP:0007773 vitreoretinopathy +HP:0007773 degeneration vitreoretinal +HP:0007772 abnormal pursuit visual +HP:0007772 impaired pursuit smooth +HP:0007772 impairment pursuit visual +HP:0007772 abnormality tracking visual +HP:0001437 abnormality limbs lower musculature +HP:0007779 anterior aplasia eye segment +HP:0007778 neovascularisation posterior retinal +HP:0007778 neovascularization posterior retinal +HP:0007778 neovascularization peripheral posterior retina +HP:0025496 abnormal artery coronary physiology +HP:0025497 artery coronary spasm +HP:0025497 artery coronary vasospasm +HP:0025494 aorta coated +HP:0025147 beaten bronze macular sheen +HP:0025147 appearance beaten macular metal +HP:0025147 appearance beaten bronze macular +HP:0025492 microcoria +HP:0025493 erythema palmoplantar +HP:0025490 bridging myocardial +HP:0025490 artery coronary 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nystagmus rotatory +HP:0001583 nystagmus rotary +HP:0008909 lethal limbed short stature +HP:0008909 dwarfism lethal micromelic +HP:0008909 dwarfism lethal limbed short +HP:0002216 greying premature +HP:0002216 graying hair premature +HP:0002216 graying premature +HP:0002216 early graying +HP:0100328 carpometacarpal synostosis +HP:0100328 bones fused hand long wrist +HP:0100329 bones fused midfoot +HP:0100329 synostosis tarsometatarsal +HP:0000434 mucosa nose telangiectasia +HP:0000434 angioectasia membrane mucous nose +HP:0000434 mucosa nasal telangiectasia +HP:0000434 mucosa nose spider veins +HP:0000434 membrane mucous nasal spider veins +HP:0000434 angioectasia membrane mucous nasal +HP:0000434 membrane mucous nose telangiectasia +HP:0000434 angioectasia mucosa nose +HP:0000434 membrane mucous nasal telangiectasia +HP:0000434 membrane mucous nose spider veins +HP:0031369 colon perforation +HP:0031368 intestinal perforation +HP:0031365 flat purpura +HP:0031365 macular purpura 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abnormal count lymphocyte +HP:0040088 abnormal lymphocytes numbers +HP:0040089 abnormality cell count killer natural +HP:0040089 abnormal cells killer natural number +HP:0040089 abnormal cell count killer natural +HP:0040089 abnormal cell count nk +HP:0005768 2 3 4 soft syndactyly tissue toes +HP:0005768 2 4 cutaneous syndactyly toe +HP:0005768 2nd 3rd 4th toes webbed +HP:0005768 fourth second third toes webbed +HP:0005769 clinodactyly distal fifth finger phalanx +HP:0005769 bone curvature finger outermost pinky +HP:0005769 bone curvature finger little outermost +HP:0005769 bone curvature finger outermost pinkie +HP:0005766 disproportionate shinbone shortening +HP:0005766 disproportionate shortening tibia +HP:0005766 disproportionate shankbone shortening +HP:0005767 1 2 complete cutaneous syndactyly toe +HP:0005767 1st 2nd toes webbed +HP:0005764 arthritis polyarticular +HP:0005765 meningocele sacral +HP:0008309 aciduria chain dicarboxylic medium +HP:0008306 abnormal deposition iron mitochondria +HP:0008305 exercise induced myoglobinuria +HP:0008305 adults exercise induced myoglobinuria +HP:0008303 degeneration olivary +HP:0008301 dermatan excretion sulfate urine +HP:0009319 camptodactyly finger middle +HP:0009319 3rd contracture finger joint +HP:0009318 absent finger middle underdeveloped +HP:0009318 absent finger middle small +HP:0009318 3rd aplasia finger hypoplasia +HP:0009317 deviated finger middle +HP:0009317 3rd deviation finger +HP:0009316 3rd abnormal finger morphology phalanx +HP:0009316 abnormality bones finger middle +HP:0009316 abnormality finger middle phalanges +HP:0009316 3rd abnormality finger phalanges +HP:0009315 4th bone finger innermost shaped triangular +HP:0009315 4th finger phalanx proximal shaped triangular +HP:0009315 bone finger innermost ring shaped triangular +HP:0009314 bone finger fused innermost ring +HP:0009314 4th affecting finger phalanx proximal symphalangism +HP:0009313 bone density finger increase innermost ring uneven 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eruption teeth +HP:0000680 baby eruption late teeth +HP:0000680 eruption late primary teeth +HP:0000687 spaced teeth wide +HP:0000687 dental generalized spacing +HP:0000687 generalized spacing teeth +HP:0000687 diastemata multiple +HP:0000687 spaced teeth widely +HP:0000684 eruption late tooth +HP:0000684 delayed eruption tooth +HP:0000684 delayed dental development +HP:0000684 eruption late teeth +HP:0000684 delayed dental eruption +HP:0000684 delayed eruption teeth +HP:0000684 delayed eruption +HP:0000685 teeth underdevelopment +HP:0000685 hypoplasia teeth +HP:0000685 decreased size teeth +HP:0000685 hypoplastic teeth +HP:0031981 elevated glycolate urine +HP:0031980 abnormal acid carboxylic level urine +HP:0031983 abnormal chest finding lung radiograph +HP:0031982 abnormal morphology putamen +HP:0031985 esophageal exudate +HP:0031984 esophageal food impaction +HP:0031987 concentration lack +HP:0031987 concentration poor +HP:0031987 ability concentrate diminished to +HP:0031986 polyminimyoclonus +HP:0003881 humeral sclerosis +HP:0003881 humerus sclerosis +HP:0003881 arm bone density increased long upper +HP:0003880 foci humeral sclerotic +HP:0003880 foci humerus sclerotic +HP:0003883 arm bone long tapered upper +HP:0003883 humerus tapered +HP:0003882 arm bone long slender upper +HP:0003882 humerus slender +HP:0003885 humerus undermodeled +HP:0003884 humerus triangular +HP:0003884 arm bone long triangular upper +HP:0003887 abnormality heads humeral +HP:0003887 abnormal arm bone head long upper +HP:0003886 humerus wide +HP:0003886 broad humerus +HP:0003886 arm bone long upper wide +HP:0003889 abnormality deltoid tuberosities +HP:0003888 flattened heads humeral +HP:0003888 arm bone flattended head long upper +HP:0009256 4th distal epiphysis finger ivory phalanx +HP:0009256 bone density end finger increased outermost part ring +HP:0012658 abnormal brain emission fdg positron tomography +HP:0100390 4th distal hypoplastic phalanx small toe +HP:0100390 4th distal phalanx short toe +HP:0100390 4th bone outermost short toe +HP:0100390 distal fourth phalanx short toe +HP:0001772 equinovalgus talipes +HP:0001772 deformity equinovalgus +HP:0004800 diverticula duodenal +HP:0030365 after birth caesarian vaginal +HP:0003089 contractures hamstring +HP:0003088 arthritis premature +HP:0003088 osteoarthritis premature +HP:0012659 fdg hypometabolism pet prefrontal +HP:0003081 hyperkaliuresis +HP:0003081 increased potassium urinary +HP:0003080 elevated hydroxyproline urinary +HP:0003080 hydroxyprolinuria +HP:0003083 dislocated head radial +HP:0003083 dislocated radius +HP:0003083 dislocated heads radial +HP:0003083 dislocation radial +HP:0003083 dislocation head radial subluxation +HP:0003083 dislocation head radial +HP:0003085 disproportionately fibula long +HP:0003085 bone calf long +HP:0003085 fibula long +HP:0003084 bone fracture increased long rate +HP:0003084 bones fractures long +HP:0003086 acromesomelia +HP:0008661 narrowing urethra +HP:0008661 stenosis urethral +HP:0011235 additional antihelix crus +HP:0010838 bound copper high nonceruloplasmin serum +HP:0002421 control head poor +HP:0010348 2nd broad phalanges toe +HP:0010348 2nd bones broad toe +HP:0010349 2nd bones bullet shaped toe +HP:0010349 2nd bullet phalanges shaped toe +HP:0010349 2nd bullet phalanx shaped toe +HP:0002936 decreased distal sensation +HP:0002936 distal impairment limbs lower sensory +HP:0002936 decreased extremities sensation +HP:0002936 distal loss sensation +HP:0002936 distal loss sensory +HP:0002936 distal impairment sensory +HP:0002936 distal limbs loss lower sensory upper +HP:0002936 distal extremities impairment lower sensory +HP:0002425 anarthria +HP:0002425 articulate loss speech +HP:0002427 aphasia broca s +HP:0002427 expressive loss speech +HP:0002427 aphasia motor +HP:0002427 aphasia expressive +HP:0010830 impaired sensation tactile +HP:0010830 impaired sensation touch +HP:0010830 loss sensation tactile +HP:0010831 abnormality proprioception +HP:0010831 impaired proprioception +HP:0010832 abnormality pain sensation +HP:0010833 pain sensation spontaneous +HP:0010834 changes pain related to trophic +HP:0010834 changes trophic +HP:0010835 dissociated loss sensory +HP:0010836 abnormality copper homeostasis +HP:0010836 abnormal copper levels +HP:0010837 ceruloplasmin decreased serum +HP:0010837 hypoceruloplasminemia +HP:0010837 hypoceruloplasminaemia +HP:0007146 basal bilateral ganglia lesions +HP:0009255 bone end finger irregular outermost part ring +HP:0009255 4th distal epiphysis finger irregular phalanx +HP:0003333 beta hexosaminidase increased serum +HP:0003332 absent metaphyseal primary spongiosa +HP:0025555 periungual teleangiectasia +HP:0025554 nodule yellow +HP:0025553 ecchymosis periorbital plate sparing tarsal with +HP:0025553 eyes raccoon +HP:0025552 periorbital purpura +HP:0025551 misrouting optic pathway +HP:0025551 misrouting pathway visual +HP:0025551 misrouting nerve optic +HP:0025550 circulating concentration elevated ribitol +HP:0025550 increased level ribitol serum +HP:0003339 acid anemia by corrected cytidylic uridylic +HP:0003339 anemia megaloblastic pyrimidine responsive +HP:0003338 cells focal muscle necrosis right ventricular +HP:0025559 cataract coronary +HP:0025558 cataract lamellar riders with +HP:0100246 osteoma +HP:0030824 mizuo nakamura phenomenon +HP:0030824 mizuo phenomenon +HP:0002684 calvarium increased thickness +HP:0002684 cranial thickened vault +HP:0002684 calcaria thickened +HP:0002684 cap skull thickened +HP:0002684 calvaria increased thickness +HP:0002684 cap increased skull thickness +HP:0002684 calvaria thickened +HP:0002684 cranial increased thickness vault +HP:0002684 calvarial increased thickness +HP:0002684 calvaria thickening +HP:0002684 calvarial thickening +HP:0002684 cranium increased thickness +HP:0002684 cranium thickened +HP:0002684 calvarium thickened +HP:0002684 calvaria thick +HP:0002684 calvarium thick +HP:0002686 health maternal problem +HP:0002686 abnormality maternal prenatal +HP:0002687 abnormality frontal sinus +HP:0002687 abnormality forehead sinus +HP:0002687 abnormality frontalis sinus +HP:0002680 fossa j pituitary shaped +HP:0002680 fossa hypophysial omega shaped +HP:0002680 j sella shaped +HP:0002680 fossa glass hour hypophysial shaped +HP:0002680 fossa glass hour pituitary shaped +HP:0002680 j sella shaped turcica +HP:0002680 glass hour sella shaped turcica +HP:0002680 fossa omega pituitary shaped +HP:0002680 fossa hypophysial j shaped +HP:0002680 omega sella shaped turcica +HP:0002681 abnormal fossa pituitary shape +HP:0002681 abnormal fossa hypophysial shape +HP:0002681 abnormal sella shape turcica +HP:0002681 fossa malformation pituitary +HP:0002681 deformity fossa hypophysial +HP:0002681 deformed sella turcica +HP:0002681 malformation sella turcica +HP:0002681 deformity fossa pituitary +HP:0002681 fossa hypophysial malformation +HP:0002682 broad cranium +HP:0002682 skull wide +HP:0002682 cranium wide +HP:0002682 cranium increased width +HP:0002682 broad skull +HP:0002682 increased skull width +HP:0002683 abnormality skullcap +HP:0002683 abnormality cap skull +HP:0002683 abnormality cranial vault +HP:0002683 abnormality calvarium +HP:0002683 abnormality calvaria +HP:0002683 abnormality cranium +HP:0002688 aplasia frontal sinus +HP:0002688 aplasia frontalis sinus +HP:0002688 absent frontal sinus +HP:0002688 frontal missing sinus +HP:0002688 absence frontal sinuses +HP:0002688 absent frontal sinuses +HP:0002689 missing paranasal sinuses +HP:0002689 missing sinuses +HP:0002689 aplasia paranasal sinuses +HP:0002689 absent paranasal sinuses +HP:0002689 absence paranasal sinuses +HP:0004428 elfin facies +HP:0004428 appearance elf facial like +HP:0004428 facies leprechaun +HP:0004428 elf facial features like +HP:0031569 absent aortic valve +HP:0031569 absent aortic cusps valve +HP:0031568 aortic cusp thickened valve +HP:0031563 arteriovenous coronary fistula +HP:0031562 aortic arch balanced double +HP:0031561 cameral coronary fistula right to ventricle +HP:0031560 cameral coronary fistula +HP:0031567 abnormal aortic cusp morphology valve +HP:0031566 abnormal cusp morphology pulmonary valve +HP:0031565 abdominal ambiguus situs +HP:0031564 bronchial isomerism +HP:0006308 flattening gum ridges +HP:0006308 alveolar flattening jaw processes +HP:0006308 gum ridges shrinking +HP:0006308 alveolar atrophy margins +HP:0006308 alveolar jaw processes resorption +HP:0006308 alveolar atrophy jaw processes +HP:0006308 alveolar atrophy ridges +HP:0006308 alveolar ridges shrinking +HP:0006308 alveolar resorption ridges +HP:0006308 alveolar flattening margin +HP:0006308 alveolar flattening ridges +HP:0006308 alveolar margins resorption +HP:0006308 alveolar bone loss +HP:0006304 between front gap teeth +HP:0006304 incisors spaced widely +HP:0006304 between diastema incisors +HP:0006304 anterior diastema teeth +HP:0006304 front spaced teeth widely +HP:0006304 between diastema front teeth +HP:0006302 dagger pulp shaped stones +HP:0006302 dagger denticles pulp shaped +HP:0006302 calcifications dagger pulp shaped +HP:0002579 dysmotility gastrointestinal +HP:0012089 arteritis +HP:0012089 artery inflammation +HP:0012088 abnormal smell urine +HP:0012088 abnormal odour urinary +HP:0012088 abnormal odor urinary +HP:0012087 abnormal mitochondrial shape +HP:0012086 abnormal colour urinary +HP:0012086 abnormal color urine +HP:0012086 abnormal color urinary +HP:0012085 count high neutrophil urine +HP:0012085 pyuria +HP:0012085 leukocyturia +HP:0012084 abnormality fiber muscle size skeletal +HP:0012083 bodies cerebral inclusion positive ubiquitin +HP:0200032 fleischer ring s +HP:0200032 fleischer ring struempell +HP:0200032 fleischer kayser ring +HP:0012081 cerebellum enlarged +HP:0012080 atrophy cerebellar granular layer +HP:0031699 cryptosporidium disseminated infection +HP:0031698 bacillus calmette disseminated guerin infection +HP:0031695 infection parainfluenza severe 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minora +HP:0008683 hypertrophic labia minora +HP:0008683 enlarged labia minora +HP:0012269 abnormal content glycogen muscle +HP:0012268 liposarcoma myxoid +HP:0008687 hypoplastic prostate +HP:0008687 prostate underdeveloped +HP:0008687 hypoplasia prostate +HP:0008684 aplasia hypoplasia uterus +HP:0008684 absent underdeveloped uterus +HP:0008684 absent small uterus +HP:0012241 atrophy levator palpebrae superioris +HP:0004969 artery peripheral pulmonary stenosis +HP:0004969 artery lung narrowing peripheral +HP:0004969 peripheral pulmonic stenosis +HP:0004969 peripheral pulmonary stenosis +HP:0004968 hemorrhagic recurrent stroke +HP:0004968 cerebral hemorrhage recurrent +HP:0004966 arteries calcification large medial +HP:0004964 artery hypertrophy pulmonary wall +HP:0004964 arterial hypertrophy medial pulmonary +HP:0004963 aorta calcification +HP:0004962 aorta calcification thoracic +HP:0004961 artery pulmonary sling +HP:0004960 artery missing pulmonary +HP:0004960 absent artery lung +HP:0004960 absent artery pulmonary +HP:0001300 parkinsonism +HP:0001300 disease parkinsonian +HP:0001301 chronic polyneuropathy sensorineural +HP:0030618 foveal increased measured oct thickness +HP:0030619 foveal measured oct reduced thickness +HP:0001304 dystonia torsion +HP:0001304 deformans dystonia musculorum +HP:0001657 interval prolonged qt +HP:0001657 long q syndrome t +HP:0001657 long qt syndrome +HP:0001657 ekg interval on prolong qt +HP:0001654 disease heart valvular +HP:0001654 abnormality heart valves +HP:0001654 abnormal heart morphology valve +HP:0001654 abnormality valvular +HP:0001655 foramen ovale patent +HP:0030612 abnormal macular morphology oct on retinal +HP:0030613 abnormal foveal macular morphology oct on +HP:0030610 loss macular oct on outer photoreceptor segment +HP:0030611 epithelial loss macular oct on pigment retinal +HP:0030616 epithelial foveal loss macular oct on pigment retinal +HP:0030617 abnormal foveal measured oct thickness +HP:0030614 foveal layer loss macular oct on photoreceptor +HP:0030615 foveal loss macular oct on outer photoreceptor segment +HP:0100119 2nd bone end middle part small toe +HP:0100119 2nd epiphysis middle phalanx small toe +HP:0100118 2nd middle phalanx pseudoepiphysis toe +HP:0004422 decreased skull width +HP:0004422 biparietal narrowing +HP:0007438 extremities mottled pigmentation proximal trunk +HP:0007439 follicularis generalized keratosis +HP:0100111 2nd absent epiphysis middle phalanx toe +HP:0100111 2nd absent bone end middle part toe +HP:0100110 2nd distal epiphysis phalanx toe triangular +HP:0100110 2nd bone end outermost part toe triangular +HP:0100113 2nd bone cone end middle part shaped toe +HP:0100113 2nd cone epiphysis middle phalanx shaped toe +HP:0100112 2nd bone bracket end middle part shaped toe +HP:0100112 2nd bracket epiphysis middle phalanx toe +HP:0100115 2nd epiphysis fragmentation middle phalanx toe +HP:0100115 2nd bone end fragmentation middle part toe +HP:0100114 2nd bone end enlarged middle part toe +HP:0100114 2nd enlarged epiphysis middle phalanx toe +HP:0100117 2nd bone density end increased middle part toe +HP:0100117 2nd epiphysis ivory middle phalanx toe +HP:0012243 abnormal morphology reproductive system +HP:0012243 abnormal genital morphology system +HP:0500018 abnormal exercise test +HP:0500018 abnormal test treadmill +HP:0500018 abnormal cardiac exercise stress test +HP:0500018 abnormal cardiac exercise test +HP:0500019 abnormal cart metabolic test +HP:0500019 abnormal cart energy expenditure from metabolic resting test +HP:0500011 face moon +HP:0500011 face puffy +HP:0500011 facies moon +HP:0500011 facies puffy +HP:0500012 abnormality gonadotropin hormone level releasing +HP:0500012 abnormality gnrh level +HP:0500013 absence gnrh pulsatility +HP:0500013 gonadotropin hormone lack pulsatility releasing +HP:0500015 abnormal cardiac test +HP:0500016 abnormal heart mri +HP:0500016 abnormal cardiac mri +HP:0500016 abnormal cardiac imaging magnetic resonance +HP:0500017 abnormal cardiac cath +HP:0500017 abnormal cardiac catheterization +HP:0012242 atrophy rectus superior +HP:0030807 abnormal growth nail +HP:0030806 fast growing nails +HP:0030805 absent lunula +HP:0030804 trachyonychia +HP:0030803 platonychia +HP:0030802 eyelid lower retraction +HP:0030801 accommodation reduced visual +HP:0030800 abnormal accommodation visual +HP:0030779 ethmocephaly +HP:0030778 changes endplate iii modic type vertebral +HP:0030778 3 changes endplate modic type vertebral +HP:0003960 bones exostoses forearm +HP:0030809 abnormal morphology tongue +HP:0030808 cuticle ragged +HP:0003961 bones forearm fractured +HP:0003614 high levels trimethylamine urine +HP:0003614 trimethylaminuria +HP:0012245 reversal sex +HP:0011904 f hemoglobin increased +HP:0011904 f hemoglobin persistence +HP:0003616 centromeric heterochromatin premature separation +HP:0004421 blood elevated pressure systolic +HP:0010579 cone epiphyses shaped +HP:0010579 bone cone end part shaped +HP:0010579 cone epiphysis shaped +HP:0010578 bone bracket end long part shaped +HP:0010578 bracket epiphyses +HP:0100467 3rd bone density increase outermost toe uneven +HP:0100467 3rd distal patchy phalanx sclerosis toe +HP:0100769 synovitis +HP:0000307 chin pointed +HP:0000307 chin s witch +HP:0000307 chin pointy +HP:0000307 chin pointed small +HP:0000307 mention pointed region +HP:0000306 abnormality chin +HP:0000306 anomaly chin +HP:0000306 chin malformation +HP:0000306 chin deformity +HP:0000306 abnormality menton +HP:0005152 cardiomyopathy changes histiocytoid infantile with +HP:0005152 cardiac isolated lipidosis +HP:0005152 cardiomyopathy focal lipid +HP:0005152 conduction hamartoma myocardial or system +HP:0005152 cardiomyopathy histiocytoid +HP:0005152 foamy myocardial transformation +HP:0005152 cardiomyopathy oncocytic +HP:0005152 arachnocytosis myocardium +HP:0005152 cardiomyopathy infantile xanthomatous +HP:0005155 escape idioventricular rhythm +HP:0005155 escape rhythm ventricular +HP:0005157 cardiomyopathy concentric hypertrophic +HP:0005157 cardiomyopathy concentric hypertrophic symmetric +HP:0000300 face oval +HP:0000300 facial oval shape +HP:0000300 facies oval +HP:0009825 aplasia bones extremities involving +HP:0009825 absent bones extremities +HP:0000309 abnormality midface +HP:0000309 deformity midface +HP:0000309 malformation midface +HP:0000309 anomaly midface +HP:0002119 cerebral dilated ventricle +HP:0002119 ventriculomegaly +HP:0002119 cerebral cisternae large ventricles +HP:0002119 enlarged system ventricular +HP:0002119 enlarged ventricles +HP:0002119 cerebral dilatation ventricular +HP:0002119 dilatation ventricular +HP:0002119 cerebral dilated ventricles +HP:0002119 cerebral enlarged ventricles +HP:0002119 dilated ventricles +HP:0003654 activity dehydrogenase dihydropyrimidine reduced +HP:0003654 deficiency dehydrogenase dihydropyrimidine +HP:0003655 acetylglucosaminyltransferase deficient ii n +HP:0003655 acetylglucosaminyltransferase activity ii n reduced +HP:0003656 activity beta decreased glucocerebrosidase protein +HP:0003657 cells deposits granular grod osmiophilic +HP:0003651 cells foam +HP:0003651 foamy macrophages +HP:0003651 foamy histiocytes +HP:0003651 cells foam presence +HP:0003651 histiocytes laden lipid +HP:0003652 myoglobinuria recurrent +HP:0003652 episodic myoglobinuria +HP:0003653 cellular metachromasia +HP:0040277 gland neoplasm pituitary +HP:0040276 adenocarcinoma colon +HP:0040275 adenocarcinoma intestine large +HP:0040274 adenocarcinoma intestine small +HP:0040273 adenocarcinoma intestines +HP:0040272 cord hyperintensity mri signal spinal t2 +HP:0004688 abnormal ankle bones shape +HP:0004688 bones irregular tarsal +HP:0040270 decreased glucose tolerance +HP:0001876 pancytopenia +HP:0001876 blood cell count low +HP:0001877 abnormality erythrocytes +HP:0001877 abnormal erythrocyte morphology +HP:0001877 abnormality cell erythroid lineage +HP:0001877 abnormality blood cells red +HP:0001874 abnormality neutrophils +HP:0001874 abnormality neutrophils polymorphonuclear +HP:0001875 neutropenia +HP:0001875 count low neutrophil +HP:0001875 neutropenia peripheral +HP:0001875 blood count low neutrophil +HP:0001872 abnormalities platelet +HP:0001872 blood disease platelet +HP:0001872 thrombasthenia +HP:0001872 abnormal morphology thrombocyte +HP:0012246 nerve oculomotor palsy +HP:0012246 neuropathy oculomotor +HP:0001870 acroosteolysis distal feet phalanges +HP:0001871 abnormality haematopoietic system +HP:0001871 disease hematologic +HP:0001871 abnormality hematological +HP:0001871 abnormality hematopoietic system +HP:0001871 abnormality blood forming tissues +HP:0011411 delivery forceps +HP:0008386 aplasia hypoplasia nail +HP:0008386 absent nails underdeveloped +HP:0008386 absent hypoplastic nails +HP:0008386 aplasia hypoplasia nails +HP:0008386 absent nails small +HP:0001878 hemolysis increased +HP:0001878 anaemia haemolytic +HP:0001878 anemia hemolytic +HP:0001879 abnormal eosinophil morphology +HP:0001879 abnormality eosinophils +HP:0010647 abnormal elasticity skin +HP:0010646 cervical instability spine +HP:0010645 absent bone outermost toes +HP:0010645 aplasia distal phalanges toes +HP:0010644 midnasal stenosis +HP:0010644 atresia midnasal or stenosis +HP:0010643 atresia midnasal +HP:0010134 hallux phalanx proximal pseudoepiphysis +HP:0010641 abnormality cavity midnasal +HP:0010640 abnormality cavity nasal +HP:0010139 big bone bracket end outermost part shaped toe +HP:0010139 bracket distal epiphysis hallux phalanx +HP:0010138 absent distal epiphysis hallux phalanx +HP:0010138 absent big bone end outermost part toe +HP:0005487 metopic prominent suture +HP:0005487 frontal prominent ridge +HP:0005487 metopic prominent ridge +HP:0005487 frontal ridging suture +HP:0005487 metopic ridging suture +HP:0005487 frontal prominent suture +HP:0005486 bregma small sutures +HP:0005486 fontanelle small +HP:0005486 cranial small sutures +HP:0005486 microfontanelle +HP:0005486 small soft spot +HP:0005486 fontanelle little +HP:0005486 cranial little sutures +HP:0010649 alae depressed nasal +HP:0010649 alae flat nasal +HP:0010649 alar cartilage flat nasal +HP:0010648 dermal translucency +HP:0010648 skin translucent +HP:0005374 cellular immunodeficiency +HP:0005376 haemophilus infections influenzae recurrent +HP:0012550 colonic varices +HP:0005372 abnormality b cell physiology +HP:0005372 b cell function reduced +HP:0004425 flat forehead +HP:0004425 flattened forehead +HP:0004425 flattening frontal +HP:0100324 scleroderma +HP:0100324 progressive scleroderma systemic +HP:0100324 pseudoscleroderma +HP:0012869 acephalic spermatozoa +HP:0012868 anomaly sperm tail +HP:0012861 ovotestis +HP:0012860 fibrotic testes +HP:0012860 fibrotic testicle +HP:0012860 fibrosis testicular +HP:0012863 abnormal cell germ male morphology +HP:0012862 abnormal cell germ morphology +HP:0012862 abnormally cell reproductive shaped +HP:0012865 anomaly head sperm +HP:0012864 teratospermia +HP:0012864 abnormal morphology sperm +HP:0012864 teratozoospermia +HP:0012864 abnormal shape sperm +HP:0012867 anomaly mid piece sperm +HP:0012866 anomaly neck sperm +HP:0006174 diaphyseal endosteal metacarpal sclerosis +HP:0006175 bone connective finger innermost thickening tissue +HP:0006175 periosteal phalangeal proximal thickening +HP:0410148 anaphylaxis idiopathic +HP:0008169 deficiency factor vii +HP:0008169 activity factor reduced vii +HP:0410149 anaphylaxis drug induced +HP:0005185 dysfunction global systolic +HP:0005182 bicuspid pulmonary valve +HP:0011265 cleft earlobe +HP:0007096 hypoplasia optic tract +HP:0007096 optic tract underdeveloped +HP:0008518 aplasia column hypoplasia involving vertebral +HP:0008518 absent column underdeveloped vertebral +HP:0008518 absent column small vertebral +HP:0008518 absent small spine +HP:0008518 absent backbone underdeveloped +HP:0008518 absent spine underdeveloped +HP:0008518 absent backbone small +HP:0008519 abnormality coccyx +HP:0008519 abnormal tailbone +HP:0007545 keratosis palmoplantar +HP:0008513 bilateral conductive hearing impairment +HP:0008513 bilateral conductive deafness +HP:0008513 bilateral conductive hearing loss +HP:0008511 central corneal opacity posterior +HP:0008516 abnormality processes spinous vertebral +HP:0008517 absent sacrum underdeveloped +HP:0008517 absent sacrum small +HP:0008517 aplasia hypoplasia sacrum +HP:0011410 caesarian section +HP:0008515 absent underdeveloped vertebrae +HP:0008515 absent small vertebrae +HP:0008515 aplasia hypoplasia vertebrae +HP:0003438 absent achilles reflex +HP:0003438 absent ankle reflexes +HP:0011515 abnormal stereopsis +HP:0009108 absent head neck thighbone underdeveloped +HP:0009108 aplasia femoral head hypoplasia involving neck +HP:0009108 absent head neck small thighbone +HP:0009109 denervation diaphragm +HP:0011510 drusen +HP:0011511 macular schisis +HP:0011512 fundus hyperpigmented +HP:0011512 fundus hyperpigmentation +HP:0011512 fundi hyperpigmented +HP:0011513 angioma cavernous retinal +HP:0009102 between biting front gap lower teeth upper when +HP:0009102 anterior openbite +HP:0009102 anterior between bite lower open teeth upper +HP:0009102 apertognathia malocclusion +HP:0009102 anterior bite malocclusion open +HP:0009102 absence anterior lower overlap teeth upper +HP:0004423 bifidum cranium occultum +HP:0004352 abnormality metabolism purine +HP:0009101 cleft lip submucous +HP:0009101 cleft labial submucous +HP:0004426 cheeks malformation +HP:0004426 anomaly cheeks +HP:0004426 abnormality cheeks +HP:0004426 cheeks deformity +HP:0004426 abnormality cheek +HP:0003435 cold cramps hand induced +HP:0004356 abnormality lysosomal metabolism +HP:0004357 abnormality leucine metabolism +HP:0002749 osteomalacia +HP:0002749 bones softening +HP:0002748 bones soft weak +HP:0002748 rickets +HP:0002219 facial growth hair increased +HP:0002219 facial hypertrichosis +HP:0002218 gray hair silvery +HP:0002218 color gray hair silver +HP:0002218 gray hair silver +HP:0002217 growing hair slow +HP:0002217 growth hair rate slow +HP:0002217 growth hair slow speed +HP:0002740 coli e infections recurrent +HP:0002740 coli e infections +HP:0002215 axillary hair pubic scalp sparse +HP:0002215 armpit hair limited +HP:0002215 hair little underarm +HP:0002215 absent axillary hair sparse to +HP:0002215 axillary hair sparse +HP:0002215 axillary hair pubic sparse +HP:0002742 infections klebsiella recurrent +HP:0002213 hair thinned +HP:0002213 hair shaft thin +HP:0002213 fine hair texture +HP:0002213 hair thin +HP:0002213 fine hair +HP:0002213 fine hair shaft +HP:0002213 hair texture thin +HP:0002212 curly hair +HP:0002211 forelock hair poliosis +HP:0002211 forelock white +HP:0002211 above forehead hair part white +HP:0002211 anterior hair poliosis +HP:0000359 abnormality ear inner +HP:0007109 cysts periventricular +HP:0008555 absent function vestibular +HP:0012321 2 aciduria d hydroxyglutaric +HP:0011226 aplasia eyelid hypoplasia +HP:0011226 eyelid hypotrophic +HP:0011226 development eyelid failure +HP:0011227 c elevated level protein reactive +HP:0011227 crp elevated +HP:0100472 5th bones fused middle toe +HP:0100472 5th affecting middle phalanx symphalangism toe +HP:0011779 anaplastic carcinoma thyroid +HP:0100470 3rd affecting middle phalanx symphalangism toe +HP:0100470 3rd bones fused middle toe +HP:0100471 4th bones fused middle toe +HP:0100471 4th affecting middle phalanx symphalangism toe +HP:0100476 3rd affecting distal phalanx symphalangism toe +HP:0100476 3rd bone fused outermost toe +HP:0100477 4th bone fused outermost toe +HP:0100477 4th affecting distal phalanx symphalangism toe +HP:0100474 4th bones fused innermost toe +HP:0100474 4th affecting phalanx proximal symphalangism toe +HP:0100475 bone fused innermost little toe +HP:0100475 5th affecting phalanx proximal symphalangism toe +HP:0100475 bone fused innermost pinky toe +HP:0100475 bone fused innermost pinkie toe +HP:0011770 hyperparathyroidism tertiary +HP:0011771 autoimmune hypoparathyroidism +HP:0100478 5th affecting distal phalanx symphalangism toe +HP:0100478 bones fused outermost pinky toe +HP:0100478 bones fused little outermost toe +HP:0100478 bones fused outermost pinkie toe +HP:0011773 goiter uninodular +HP:0011774 adenoma follicular thyroid +HP:0011775 adenoma macrofollicular thyroid +HP:0011776 adenoma microfollicular thyroid +HP:0011777 adenoma papillary thyroid +HP:0032049 cortical dysplasia focal ib type +HP:0032048 cortical dysplasia focal ia type +HP:0001412 enteroviral hepatitis +HP:0011260 darwin helix notch +HP:0032041 cord polyp vocal +HP:0032040 abnormal adnexa ocular physiology +HP:0032043 odynophagia +HP:0032043 painful swallowing +HP:0007099 chiari i malformation +HP:0007099 arnold chiari i malformation type +HP:0032045 canal carotid hypoplastic +HP:0032044 decreased vigilance +HP:0002803 contracture +HP:0002803 contractures joint +HP:0002803 contractures +HP:0032046 associated childhood common cortical dysplasia entities epilepsy especially focal is most one refractory with +HP:0032046 cortical dysplasia focal +HP:0011229 broad eyebrows +HP:0011229 eyebrow height increased vertical +HP:0011229 eyebrow increased thickness vertical +HP:0011229 eyebrows flared +HP:0011229 eyebrow increased vertical width +HP:0011229 broad eyebrow +HP:0011229 eyebrow flared +HP:0004396 appetite no +HP:0004396 appetite poor +HP:0004396 appetite decreased +HP:0500061 iii prematurity retinopathy zone +HP:0500061 iii rop zone +HP:0011261 darwin helix tubercle +HP:0500060 ii prematurity retinopathy zone +HP:0500060 ii rop zone +HP:0009579 bones finger fused index innermost middle +HP:0009579 2nd finger middle proximal symphalangism +HP:0500063 plus pre rop +HP:0500063 plus pre prematurity retinopathy +HP:0004394 gastric multiple polyps +HP:0500062 plus prematurity retinopathy +HP:0500062 plus rop +HP:0004397 abnormal anus position +HP:0004397 anus ectopic +HP:0004397 anus malposition +HP:0025128 adipose intraabdominal reduced tissue +HP:0025129 abnormal intestinal morphology mucosa small +HP:0025126 hairy leukoplakia oral +HP:0025127 keratosis solar +HP:0025127 actinic keratosis +HP:0025124 chip enamel tendency to with +HP:0025124 fragile teeth +HP:0025124 fracture spontaneous tooth +HP:0025125 lesion mucosa oral white +HP:0025122 acanthosis sawtoothed +HP:0025122 acanthosis sawtooth +HP:0025123 enamel on specks streaks white +HP:0025121 occipital partial seizures simple +HP:0031289 papule white +HP:0012657 abnormal brain emission positron tomography +HP:0009575 bone finger index middle shaped triangular +HP:0009575 2nd finger middle phalanx shaped triangular +HP:0007206 hemimegalencephaly +HP:0004390 hamartomatous polyps +HP:0004390 hamartomatous polyposis +HP:0004390 gastrointestinal hamartomatous polyps +HP:0004390 gastrointestinal hamartoma +HP:0100834 intestine large tumor +HP:0100834 intestine large neoplasm +HP:0500066 latent myopia +HP:0012698 cerebellar gliosis +HP:0009790 hemisacrum +HP:0011413 dystocia shoulder +HP:0004392 belly prune +HP:0005193 joint large movement restricted +HP:0005671 bilateral calcifications intracranial +HP:0012692 focal hyperintense lesion t2 thalamic +HP:0012693 abnormal size thalamic +HP:0012690 hypointense t2 thalamus +HP:0012691 focal hypointense lesion t2 thalamic +HP:0012696 abnormal intensity mri signal thalamic +HP:0012697 basal ganglia small +HP:0012694 enlarged thalamic volume +HP:0008542 frequency hearing loss low +HP:0000298 expression facial lack +HP:0000298 amimia +HP:0000298 facies masklike +HP:0000298 facies like mask +HP:0000298 expressionless face +HP:0000298 appearance facial like mask +HP:0030025 auricular pit +HP:0005973 fructose intolerance +HP:0005972 acidosis respiratory +HP:0005977 alkalosis hypochloremic metabolic +HP:0005676 hands polydactyly postaxial rudimentary +HP:0005974 episodic ketoacidosis +HP:0031286 erythema perifollicular +HP:0005979 ketoacidosis metabolic +HP:0005978 niddm +HP:0005978 dependent diabetes noninsulin +HP:0005978 2 diabetes type +HP:0005978 diabetes ii type +HP:0005978 2 diabetes mellitus type +HP:0005978 diabetes mellitus niddm +HP:0005978 diabetes ii mellitus type +HP:0005978 dependent diabetes insulin non +HP:0005978 dependent diabetes mellitus noninsulin +HP:0010318 abdominal absent muscles small wall +HP:0010318 abdominal absent muscles underdeveloped wall +HP:0010318 abdominal aplasia hypoplasia musculature wall +HP:0004468 anomalous cartilage tracheal +HP:0004468 abnormal cartilaginous ring tracheal +HP:0004469 bronchitis chronic +HP:0030024 ectopia pretragal +HP:0030024 accessory tragus +HP:0030024 duplication pretragal +HP:0030024 cartilage ear extra front +HP:0000303 enlargement mandible +HP:0000303 excess jaw lower +HP:0000303 mandibular prognathia +HP:0000303 mandibular prognathism relative +HP:0000303 hyperplasia jaw lower +HP:0000303 jaw prominent +HP:0000303 increased jaw lower size +HP:0000303 increased mandible projection +HP:0000303 big mandible +HP:0000303 increased mandible size +HP:0000303 hyperplasia mandibular +HP:0000303 hypertrophy jaw lower +HP:0000303 large mandible +HP:0000303 enlarged mandible +HP:0000303 macromandible +HP:0000303 increased jaw lower projection +HP:0000303 prognathia +HP:0000303 jaw lower prominent +HP:0000303 jaw large lower +HP:0000303 excess mandibular +HP:0000303 prognathism +HP:0000303 mandible prognathism +HP:0000303 macrognathia mandibular +HP:0000303 mandible prominent +HP:0000303 big jaw lower +HP:0000303 chin prominent +HP:0000303 hypertrophy mandible +HP:0000303 mandibular prognathism +HP:0012528 abnormal alpha granules number +HP:0012529 abnormal content dense granule +HP:3000038 abnormal cartilage cricoid morphology +HP:3000038 abnormality cartilage cricoid +HP:3000039 abnormality artery dorsal nasal +HP:3000036 abnormality blood head vessel +HP:3000036 abnormality head vasculature +HP:3000037 abnormality blood neck vessel +HP:3000037 abnormality neck vasculature +HP:3000037 abnormality blood cervical vessels +HP:3000037 abnormality cervical vasculature +HP:3000034 cartilage deformity nasal septum +HP:3000034 abnormality cartilage nasal septum +HP:3000034 abnormality cartilage nose septum +HP:3000034 anomaly cartilage nasal septum +HP:3000034 cartilage malformation nasal septum +HP:3000035 abnormality cervical plexus +HP:3000032 abnormality artery central retinal +HP:3000033 abnormality adenoids nasopharyngeal +HP:3000033 abnormality pharyngeal tonsil +HP:3000033 abnormality nasopharyngeal tonsil +HP:3000033 abnormality adenoids +HP:3000030 abnormality bony orbit skull +HP:3000030 abnormality bones orbit skull +HP:3000030 abnormality bones orbital skull +HP:3000030 abnormality bony eye socket +HP:3000031 abnormality anterior artery ethmoidal +HP:0031736 entropion involutional +HP:0031737 cicatricial entropion +HP:0031734 failure lacrimal pump +HP:0031732 basal increased production tear +HP:0004676 adult arches prominent supraorbital +HP:0031730 axial myopia +HP:0031731 increased production tear +HP:0006110 bones finger middle shortened +HP:0006110 disproportionately middle phalanges short +HP:0006110 all fingers middle phalanges shortening +HP:0006112 cavities expanded medullary phalanges widened with +HP:0006114 creases multiple palmar +HP:0006114 lines multiple palm +HP:0006443 absent patella +HP:0006443 absent patellas +HP:0006443 aplastic patellae +HP:0006443 aplasia patellar +HP:0006443 absent patellae +HP:0006443 absent kneecap +HP:0031738 entropion mechanical +HP:0031739 abnormal muscle oblique physiology +HP:0030850 abnormal pressure pulse +HP:0030851 low pressure pulse +HP:0007328 impaired pain sensation +HP:0007328 decreased pinprick sensation +HP:0007328 decreased pain sensation +HP:0030852 high pressure pulse +HP:0000840 adrenogenital syndrome +HP:0000841 angiotensin hyperactive renin system +HP:0000841 activity increased plasma renin +HP:0000842 elevated insulin level +HP:0000842 hyperinsulinemia +HP:0000843 blood elevated hormone level parathyroid +HP:0000843 hyperparathyroidism +HP:0003275 bone narrow pelvis +HP:0003275 narrow pelvis +HP:0000845 acromegalic growth +HP:0000845 acromegaly +HP:0000845 acral hypertrophy +HP:0000845 excess growth hormone +HP:0000846 hypoadrenalism +HP:0000846 adrenal insufficiency +HP:0000847 abnormality angiotensin renin system +HP:0000847 abnormality aldosterone axis renin +HP:0000848 circulating increased level renin +HP:0000848 increased renin serum +HP:0000848 hyperreninemia +HP:0000848 increased plasma renin +HP:0000848 elevated plasma renin +HP:0000849 abnormality adrenocortical +HP:0011412 delivery ventouse +HP:0011412 extraction vacuum +HP:0011412 assisted delivery vacuum vaginal +HP:0005639 hand hyperextensible joints +HP:0030100 abnormal alpha fiber muscle sarcoglycan +HP:0030858 addictive behavior +HP:0030101 absent alpha fiber muscle sarcoglycan +HP:0009572 defects finger index lytic middle phalanx +HP:0009572 2nd defects finger middle osteolytic phalanx +HP:0030859 antibody i positivity topoisomerase +HP:0030859 antibody dna i positivity topoisomerase +HP:0030859 antibody positivity top1 +HP:0012495 artery cerebral posterior stenosis +HP:0008843 hip osteoarthritis +HP:0100323 aseptic juvenile necrosis +HP:0100323 aseptic epiphyseal necrosis +HP:0009571 2nd curved finger middle phalanx +HP:0009571 bone curved finger index middle +HP:0008845 dwarfism mesomelic +HP:0008845 dwarfism limb mesomelic short +HP:0008845 disproportionate mesomelic short stature +HP:0008845 mesomelic short stature +HP:0031347 arteriovenous malformation uterine +HP:0031346 arteriovenous malformation rectal +HP:0031345 arteriovenous colonic malformation +HP:0031344 arteriovenous malformation pelvic +HP:0031343 arteriovenous jejunal malformation +HP:0031342 arteriovenous duodenal malformation +HP:0031341 arteriovenous gastric malformation +HP:0031340 abnormal lysosomal morphology +HP:0007327 axonal demyelinating mixed polyneuropathy +HP:0100434 3rd bone bullet middle shaped toe +HP:0100434 3rd bullet middle phalanx shaped toe +HP:0031349 l tga +HP:0031349 arteries great levotransposition +HP:0031348 d tga +HP:0031348 arteries d great loop transposition +HP:0031348 arteries dextrotransposition great +HP:0100435 4th bone bullet middle shaped toe +HP:0100435 4th bullet middle phalanx shaped toe +HP:0009489 bracket epiphyses finger index +HP:0009489 bracket end finger index part shaped +HP:0009489 2nd bracket epiphyses finger +HP:0009488 absent end finger index part +HP:0009488 2nd absent epiphyses finger +HP:0009487 deviation hands ulnar +HP:0009487 deviation hand ulnar +HP:0009486 deviation hand radial +HP:0009486 deviation hands radial +HP:0009570 2nd bullet finger middle phalanx shaped +HP:0009570 bone bullet finger index middle shaped +HP:0001996 acidosis chronic metabolic +HP:0009483 3rd finger metacarpal phalanx proximal symphalangism with +HP:0009483 bone bones finger fused hand innermost long middle with +HP:0009482 bones finger fused innermost middle +HP:0009482 3rd finger middle proximal symphalangism +HP:0008430 anterior bodies like lumbar protrusion tongue vertebral +HP:0008430 anterior beaking lumbar vertebrae +HP:0001469 abnormality musculature pelvis +HP:0001468 aplasia arm hypoplasia involving musculature upper +HP:0001468 absent arm muscles small upper +HP:0001468 absent arm muscles underdeveloped upper +HP:0008433 column curves reversed usual vertebral +HP:0001460 absent muscles skeletal small +HP:0001460 absent muscles skeletal underdeveloped +HP:0001460 aplasia hypoplasia involving musculature skeletal +HP:0008432 anterior l1 wedging +HP:0001465 muscles shoulder wasting +HP:0001465 degeneration muscle shoulder +HP:0001465 amyotrophy involving musculature shoulder +HP:0100694 tibial torsion +HP:0001467 absent limb muscles small upper +HP:0001467 absent limb muscles underdeveloped upper +HP:0001467 aplasia hypoplasia involving limbs musculature upper +HP:0100060 3rd epiphyses irregular toe +HP:0100060 3rd bone end irregular part toe +HP:0000512 abnormal erg +HP:0000512 abnormal electroretinogram +HP:0000512 abnormal electroretinography +HP:0000510 pigmentosa retinitis +HP:0000510 cone dystrophy rod +HP:0000511 gaze palsy supranuclear vertical +HP:0000511 gaze palsy vertical +HP:0000517 issue lens +HP:0000517 abnormality lens +HP:0000517 disease lens +HP:0000514 saccades slow +HP:0000514 eye movements slow +HP:0000514 eye movements saccadic slow +HP:0000514 slow tracking visual +HP:0009577 bone finger index middle short +HP:0009577 2nd finger middle phalanx short +HP:0009577 2nd finger hypoplastic middle phalanx small +HP:0009577 finger hypoplastic index middle phalanx +HP:0100692 corneal curvature increased +HP:0100692 corneal curvature steep +HP:0000518 lens opacities +HP:0000518 lens opacity +HP:0000518 cloudy lens +HP:0000518 clouding eye lens +HP:0000518 cataracts +HP:0000518 cataract +HP:0000519 at birth clouding eye lens +HP:0000519 bilateral cataracts +HP:0000519 cataract +HP:0000519 cataract developmental +HP:0000519 cataracts +HP:0100693 iridodonesis +HP:0100902 bone density finger increased outermost ring +HP:0100902 4th distal finger phalanx sclerosis +HP:0100903 bone density finger increased little outermost +HP:0100903 bone density finger increased outermost pinkie +HP:0100903 bone density finger increased outermost pinky +HP:0100903 5th distal finger phalanx sclerosis +HP:0100900 bone density finger increased index outermost +HP:0100900 2nd distal finger phalanx sclerosis +HP:0100901 3rd distal finger phalanx sclerosis +HP:0100901 bone density finger increased middle outermost +HP:0100906 4th finger middle phalanx sclerosis +HP:0100906 bone density finger increased middle ring +HP:0100907 bone density finger increased middle pinkie +HP:0100907 5th finger middle phalanx sclerosis +HP:0100907 bone density finger increased middle pinky +HP:0100907 bone density finger increased little middle +HP:0100904 2nd finger middle phalanx sclerosis +HP:0100904 bone density finger increased index middle +HP:0100905 bone density finger increased middle +HP:0100905 3rd finger middle phalanx sclerosis +HP:0100908 2nd finger phalanx proximal sclerosis +HP:0100908 bone density finger increased index innermost +HP:0100909 3rd finger phalanx proximal sclerosis +HP:0100909 bone density finger increased innermost middle +HP:0009576 absent bone finger index middle +HP:0009576 2nd aplasia finger middle phalanx +HP:0009576 2nd absent finger middle phalanx +HP:0009576 absent finger index middle phalanx +HP:0031140 abnormal liver sonography +HP:0012491 abnormal dense system tubular +HP:0030899 hand on pruritis +HP:0012492 a artery cerebral narrowing +HP:0012492 artery cerebral stenosis +HP:0009129 amyotrophy limb upper +HP:0009129 amyotrophy involving limbs upper +HP:0011187 discharges eeg focal hemisphere ipsilateral propagation to with +HP:0011186 contralateral discharges epileptiform focal hemisphere limited propagation to with +HP:0011185 discharges eeg epileptiform focal with +HP:0011185 abnormality eeg focal +HP:0011184 discharges eeg epileptiform generalized hyperventilation induced with +HP:0011183 discharges eeg epileptiform focal hyperventilation induced with +HP:0011182 discharges eeg epileptiform +HP:0011182 activity epileptiform interictal +HP:0011181 eeg low voltage +HP:0011180 beta eeg partial +HP:0011189 bilateral discharges epileptiform multifocal +HP:0011188 discharges eeg focal generalization secondary with +HP:0009574 2nd finger middle phalanx symphalangism +HP:0009574 bone finger fused index middle +HP:0040191 atrophy femoris muscles rectus +HP:0040191 atrophy femoris muscle rectus +HP:0012493 artery cerebral middle stenosis +HP:0040196 microcephaly mild +HP:0012176 abnormal cells nk +HP:0012176 abnormal cell killer morphology natural +HP:0012176 abnormality cells killer natural +HP:0040197 encephalomalacia +HP:0040197 cerebral softening +HP:0010588 closure epiphyses premature +HP:0010588 epimetaphyseal fusion premature +HP:0012494 anterior artery cerebral stenosis +HP:0010580 enlarged epiphyses +HP:0010580 bone end large part +HP:0010580 epiphyses large +HP:0010580 distorted epiphyses widened +HP:0010582 epiphyses irregular +HP:0010582 bone end irregular long part +HP:0040195 circumference decreased head +HP:0010584 pseudoepiphyses +HP:0010585 epiphyses small +HP:0010585 bone end part small +HP:0010587 epiphyses triangular +HP:0010587 bone end part triangular +HP:0011989 ectopic ligament ossification tissue +HP:0011988 ectopic ossification tendon tissue +HP:0011987 ectopic muscle ossification tissue +HP:0011987 calcification muscle tissue +HP:0011986 bone ectopic formation +HP:0011986 ectopic ossification +HP:0011986 heterotopic ossification +HP:0011985 acholia +HP:0011985 acholic stools +HP:0011985 clay colored stools +HP:0011985 acholic discolored stools +HP:0011984 atretic gallbladder +HP:0011984 atresia gallbladder +HP:0011983 brown gallstones pigment +HP:0011982 black gallstones pigment +HP:0011981 gallstones pigment +HP:0011980 cholesterol gallstones +HP:0031324 cells giant multinucleated myocardial +HP:0030028 cartilage missing nose +HP:0030028 absent cartilage nasal +HP:0030028 absent cartilage nose +HP:0030028 agenesis cartilage nasal +HP:0030028 agenesis cartilage nose +HP:0030028 cartilage missing nasal +HP:0030028 cartilage development failure nose +HP:0030028 cartilage development failure nasal +HP:0200083 limb severe shortening +HP:0007041 chronic lymphocytic meningitis +HP:0002914 hyperchloriduria +HP:0002914 chloride increased urinary +HP:0002916 abnormality chromosome segregation +HP:0002917 hypomagnesemia +HP:0002917 blood levels low magnesium +HP:0010368 3rd abnormality distal phalanx toe +HP:0010368 3rd abnormality bone outermost toe +HP:0010369 3rd abnormality bone middle toe +HP:0010369 3rd abnormality middle phalanx toe +HP:0002912 acidemia methylmalonic +HP:0031328 cardiac fibrosis perivascular +HP:0010364 3rd patchy phalanges sclerosis toe +HP:0010364 3rd patchy phalanx sclerosis toe +HP:0010364 3rd bone density increase toe uneven +HP:0010365 3rd bones fused toe +HP:0010365 3rd affecting phalanges symphalangism toe +HP:0010366 3rd phalanges shaped toe triangular +HP:0010366 3rd bones shaped toe triangular +HP:0010367 3rd duplication phalanx toe +HP:0010367 3rd complete duplication partial phalanges toe +HP:0010367 duplication phalanx third toe +HP:0010367 3rd bone duplication toe +HP:0010360 3rd broad phalanges toe +HP:0010360 3rd bones toe wide +HP:0002919 ketonuria +HP:0002919 ketonaciduria +HP:0002919 acetonuria +HP:0002919 ketoaciduria +HP:0010362 3rd curved phalanx toe +HP:0010362 3rd curved phalanges toe +HP:0010362 3rd bones curved toe +HP:0010363 3rd defects osteolytic phalanges toe +HP:0045085 atrophied masseter muscle +HP:0045085 atrophy masseter muscle +HP:0200085 limb tremor +HP:0200085 limbs tremor +HP:0200085 involuntary limb shaking +HP:0003330 abnormal bone structure +HP:0004371 abnormality glycosaminoglycan metabolism +HP:0003355 acids animo increased levels urine +HP:0003355 abnormal acid amino findings urinary +HP:0003355 hyperaminoaciduria +HP:0003355 aminoaciduria +HP:0003355 acid amino high levels urine +HP:0003354 blood high levels threonine +HP:0003354 hyperthreoninemia +HP:0003354 circulating elevated threonine +HP:0003357 decreased hormone thymic +HP:0003351 circulating decreased level renin +HP:0003351 activity low plasma renin +HP:0003351 activity decreased plasma renin +HP:0003351 activity plasma renin suppressed +HP:0003353 carboxylase coa deficiency propionyl +HP:0007016 corticospinal hypoplasia tract +HP:0003436 endplate miniature potentials prolonged +HP:0003436 currents endplate miniature prolonged +HP:0003436 mepp prolonged +HP:0003436 mepc prolonged +HP:0003359 decreased sulfate urinary +HP:0003358 cystine elevated intracellular +HP:0003337 consumption prothrombin reduced +HP:0003337 consumption poor prothrombin +HP:0012498 cord nuchal +HP:0011837 deficiency iga partial +HP:0031509 dry nipple +HP:0031509 abnormally area breast dry nipple skin +HP:0031508 abnormal hormone level thyroid +HP:0012593 nephrotic proteinuria range +HP:0003336 abnormal enchondral ossification +HP:0030890 hyperintensity matter white +HP:0030890 cerebral hyperintensity matter mri on white +HP:0031507 level plasma reduced t4 +HP:0031507 circulating decreased level thyroxine +HP:0031506 circulating increased level thyroxine +HP:0031501 mass pelvic +HP:0031500 abdominal mass +HP:0031503 gasping night +HP:0031502 trophoblastic tumor +HP:0006326 dentition due mucopolysaccharidoses to unerupted +HP:0006326 dental due eruption failure mucopolysaccharidoses to +HP:0006326 due eruption failure mucopolysaccharidoses to tooth +HP:0006326 buried encased mucopolysaccharide teeth +HP:0006326 due impacted mucopolysaccharidoses teeth to +HP:0006326 due mucopolysaccharidoses teeth to unerupted +HP:0006323 deciduous loss premature tooth +HP:0006323 loss premature primary teeth +HP:0006323 deciduous loss premature teeth +HP:0006323 exfoliation premature primary teeth +HP:0006323 baby loss premature teeth +HP:0006323 early loss primary teeth +HP:0006323 deciduous early loss teeth +HP:0006323 deciduous exfoliation premature teeth +HP:0006323 baby early loss teeth +HP:0006321 adult eruption failure multiple teeth +HP:0006321 adult multiple teeth unerupted +HP:0006321 eruption failure multiple permanent teeth +HP:0006321 erupting multiple non permanent teeth +HP:0006321 multiple permanent teeth unerupted +HP:0006321 adult erupting multiple non teeth +HP:0006321 erupting multiple non secondary teeth +HP:0012499 aortic b dissection type +HP:0012499 aortic descending dissection +HP:0006329 alveolar ridge underdevelopment +HP:0006329 alveolar hypotrophic ridge +HP:0006329 alveolar deficiency ridge +HP:0006329 alveolar ridge small +HP:0006329 alveolar deficiency jaw process +HP:0006329 alveolar bone hypoplastic +HP:0006329 alveolar hypoplasia process +HP:0006329 alveolar jaw process small +HP:0006329 alveolar hypoplasia ridge +HP:0006329 alveolar jaw process underdevelopment +HP:0006329 alveolar decreased ridge size +HP:0006329 alveolar hypotrophic jaw process +HP:0006329 alveolar decreased jaw process size +HP:0012592 albuminuria +HP:0007045 brain calcifications midline +HP:0007285 bones by caused cranial facial overgrowth palsy +HP:0007285 bones cranial facial hypertrophy palsy secondary to +HP:0007285 cranial facial hyperostosis palsy secondary to +HP:0007285 bones by caused cranial enlargement facial palsy +HP:0007285 bones by caused excessive facial growth palsy +HP:0012061 excretion oligosaccharides sialylated urinary +HP:0012061 increased sialyloligosaccharides urinary +HP:0012060 acral lentiginous melanoma +HP:0012063 aneurysmal bone cyst +HP:0012062 bone cysts +HP:0012062 bone cyst +HP:0012065 bony cystic lesions multiple +HP:0012064 bone cyst unicameral +HP:0012067 glycopeptide high levels urine +HP:0012067 glycopeptiduria +HP:0012066 disaccharide excretion increased urinary +HP:0012069 excretion keratan sulfate urine +HP:0012068 aspartylglucosamine high levels urine +HP:0012068 aspartylglucosaminuria +HP:0100746 finger macrodactyly +HP:0100746 hands macrodactyly +HP:0003334 catecholamine circulating elevated level +HP:0007281 developmental stagnation +HP:0007281 arrest developmental +HP:0007280 acute atrophy infantile muscular spinal +HP:0002009 facies potter +HP:0002002 philtrum pronounced +HP:0002002 deep philtrum +HP:0002002 depressed philtrum +HP:0002002 depth increased philtrum +HP:0002002 philtrum prominent +HP:0550003 proximal scleroderma +HP:0002000 columella decreased length +HP:0002000 columella hypoplasia +HP:0002000 columella short +HP:0002006 cleft facial +HP:0002006 clefts facial +HP:0002006 cleft facial tessier +HP:0002006 cleft face +HP:0002007 bossing frontal +HP:0002007 bossing skull +HP:0002007 frontal protruberance +HP:0550004 flat wart +HP:0550004 plana verruca +HP:0550005 lung scleroderma +HP:0550005 disease lung scleroderma +HP:0550005 disease lung sclerosis systemic with +HP:0550005 basilar bilateral fibrosis pulmonary +HP:0410232 anti antibody fungus ige increased level +HP:0410232 anti antibody fungi ige increased level +HP:0410232 anti antibody fungal ige increased level +HP:0410233 allergen anti antibody ige increased level meat +HP:0410230 anti antibody food ige increased level nut product +HP:0007047 atrophy dentate nucleus +HP:0410236 anti antibody ige increased level venom +HP:0410234 anti antibody ige increased level parasite +HP:0410235 anti antibody ige increased insect level +HP:0410238 anti antibody ige increased level plant product +HP:0410239 norcotinine positive test urine +HP:0007017 forgetfulness progressive +HP:0007017 forgetfullness +HP:0100289 abnormality evoked pattern potentials reversal visual +HP:0100289 abnormality pattern reversal vep +HP:0100288 discharges emg myokymic +HP:0012207 motility reduced sperm +HP:0012207 asthenospermia +HP:0012206 abnormal motility sperm +HP:0012201 activity factor ii low +HP:0012201 activity factor ii reduced +HP:0012201 activity prothrombin reduced +HP:0012200 abnormality prothrombin +HP:0012203 onychomycosis +HP:0012202 acid bile concentration increased serum +HP:0100281 chronic colitis +HP:0100280 crohn morbus +HP:0100280 crohn disease s +HP:0100280 colitis enteritis granulomatous +HP:0100283 activity at continuous emg motor rest unit +HP:0100282 acute colitis +HP:0100285 emg impaired neuromuscular transmission +HP:0100284 discharges emg myotonic +HP:0100287 conduction emg motor slow +HP:0007183 basal focal ganglia hyperintense lesion t2 +HP:0007183 basal ganglia hyperintense lesions mri on +HP:0006583 failure fatal infancy liver +HP:0006582 episodes like reye syndrome +HP:0006581 depletion dna liver mitochondrial +HP:0006580 biopsy fibrosis on portal shown +HP:0006580 fibrosis portal +HP:0006587 collarbone straight +HP:0006587 clavicles straight +HP:0006585 bipartite clavicle +HP:0006585 clavicle pseudoarthrosis +HP:0006584 abnormally formed scapula small +HP:0006584 abnormally formed scapulae small +HP:0006584 abnormally blade formed shoulder small +HP:0006859 leukoencephalopathy posterior +HP:0006858 distal impaired proprioception +HP:0006858 distal loss proprioception sensory +HP:0006589 cage flaring lower rib +HP:0004981 process prominent styloid ulna +HP:0004980 metaphyses rarefaction +HP:0004980 metaphyseal rarefaction +HP:0011836 delayed ossification talus +HP:0001281 tetany +HP:0001281 intermittent involuntary muscle spasm +HP:0004987 limb lower mesomelic shortening +HP:0004987 leg mesomelic shortening +HP:0004987 limbs lower mesomelia +HP:0025470 effluvium telogen +HP:0012496 inspiratory maximal pressure reduced +HP:0001674 av canal common complete +HP:0001674 atrioventricular canal +HP:0001674 atrioventricular complete defect septal +HP:0001674 atrioventricular canal complete defect +HP:0001674 atrioventricular canal common +HP:0001677 artery atherosclerosis coronary +HP:0001677 atherosclerosis coronary +HP:0001677 arteries blood build heart plaque supplying to up +HP:0001677 coronary disease +HP:0030638 blindness fundus night normal stationary with +HP:0030639 abnormal blindness fundus night stationary with +HP:0100630 nasopharynx neoplasm +HP:0100630 nasopharynx neoplasia +HP:0100630 nasopharynx tumor +HP:0100630 nasopharyngeal neoplasm +HP:0030634 abnormal autofluorescence by hyperautofluorescence perifoveal ring surrounded +HP:0030635 dystrophy early involvement macular retinal with +HP:0030636 dystrophy macular occult +HP:0030637 cone dysfunction +HP:0030637 cone dysfunction stationary +HP:0030637 cone dysfunction syndrome +HP:0030630 autofluorescence central irregular macular +HP:0030631 hyperautofluorescent lesion macular +HP:0030632 autofluorescent hypo lesion macular +HP:0030632 hypoautofluorescent lesion macular +HP:0030633 autofluorescence by hyperautofluorescence normal perifoveal ring surrounded +HP:0007456 hyperpigmentation progressive reticulate +HP:0007457 on prominent trunk veins +HP:0100131 2nd bone calcifications end innermost part speckled toe +HP:0100131 2nd epiphysis phalanx proximal stippling toe +HP:0007455 adermatoglyphia +HP:0100137 3rd cone distal epiphysis phalanx shaped toe +HP:0100137 3rd bone cone end outermost part shaped toe +HP:0100136 3rd bone bracket end outermost part shaped toe +HP:0100136 3rd bracket distal epiphysis phalanx toe +HP:0100135 3rd absent bone end outermost part toe +HP:0100135 3rd absent distal epiphysis phalanx toe +HP:0100134 abnormality axillary hair +HP:0009234 5th bone finger fused hand innermost long pinky with +HP:0009234 5th bone finger fused hand innermost long pinkie with +HP:0009234 5th bone finger fused hand innermost little long with +HP:0009234 5th finger metacarpal phalanx proximal symphalangism with +HP:0100139 3rd bone end fragmentation outermost part toe +HP:0100139 3rd distal epiphysis fragmentation phalanx toe +HP:0100138 3rd distal enlarged epiphysis phalanx toe +HP:0100138 3rd bone end enlarged outermost part toe +HP:0007988 hypopigmentation macular +HP:0030896 abnormal gastrointestinal time transit +HP:0007458 focal hyperextensible skin +HP:0007459 anhidrosis generalized +HP:0007459 generalized inability sweat to +HP:0011362 abnormal hair quantity +HP:0001283 bulbar palsies +HP:0001283 bulbar muscle weakness +HP:0001283 bulbar weakness +HP:0001283 bulbar palsy +HP:0030759 cell fat hypertrophy +HP:0030759 adipocyte hypertrophy +HP:0030758 abscess periapical tooth +HP:0001586 fistula vesicovaginal +HP:0012598 abnormal concentration potassium urine +HP:0030751 grade hemorrhage intraventricular iv preterm +HP:0030750 grade hemorrhage iii intraventricular preterm +HP:0030757 abscess dentoalveolar +HP:0030757 abscess dental +HP:0030757 abscess tooth +HP:0030756 red teeth +HP:0030756 erythrodontia +HP:0030755 craniofacial teratoma +HP:0030754 allantoic cyst +HP:0100632 pulmonary sequestration +HP:0100632 cystic lesion lung +HP:0008664 sclerosis sphincter urethral +HP:0009236 bone finger innermost little or rhomboid shaped triangular +HP:0009236 5th finger or phalanx proximal rhomboid shaped triangular +HP:0009236 bone finger innermost or pinky rhomboid shaped triangular +HP:0009236 bone finger innermost or pinkie rhomboid shaped triangular +HP:0400005 ears short +HP:0400005 ear short +HP:0030108 fiber gamma muscle reduced sarcoglycan +HP:0008207 adrenocortical insufficiency +HP:0008207 addison disease s +HP:0008207 addison disease +HP:0008207 adrenocortical failure primary +HP:0008207 adrenal insufficiency primary +HP:0200039 pustules +HP:0200039 pustules skin +HP:0200039 pustule skin +HP:0200039 pustule +HP:0200039 pimple +HP:0200039 pustula +HP:0001285 quadriparesis spastic +HP:0001285 spastic tetraparesis +HP:0100631 adrenal neoplasia +HP:0100631 adrenal gland neoplasm +HP:0030109 absent fiber gamma muscle sarcoglycan +HP:0008204 cell precocious puberty sertoli tumor with +HP:0100634 neoplasm neuroendocrine +HP:0100634 neoplasia neuroendocrine +HP:0005178 block complete complexes heart narrow qrs with +HP:0001284 absent reflexes +HP:0001284 deep loss reflexes tendon +HP:0001284 absent deep reflexes tendon +HP:0001284 absent reflexes tendon +HP:0001284 areflexia +HP:0005170 block broad complete complexes heart qrs with +HP:0005177 arteriosclerosis premature +HP:0005177 arteries hardening premature +HP:0005176 aortic dysplastic valve +HP:0005174 aortic membranous stenosis subvalvular +HP:0000987 atypical scarring skin +HP:0000987 atypical scarring +HP:0000980 pallor +HP:0000980 paleness +HP:0000980 paleness skin +HP:0000982 keratoderma palmar plantar +HP:0000982 keratoderma palmoplantar +HP:0031998 crackles inspiratory late +HP:0008205 but dependent diabetes insulin ketosis resistant +HP:0000989 pruritus +HP:0000989 itching +HP:0000989 itchy skin +HP:0000989 itching skin +HP:0000989 pruritis +HP:0000988 exanthem +HP:0000988 rash skin +HP:0040291 muscle skeletal steatosis +HP:0040291 muscles skeletal steatosis +HP:0040290 abnormality muscles skeletal +HP:0040293 hemiplegia right +HP:0040292 hemiplegia left +HP:0040295 double lip upper +HP:0040295 duplication lip upper +HP:0040294 duplicated tongue +HP:0040294 duplication tongue +HP:0040297 cyst preauricular +HP:0001287 meningitis +HP:0040299 acid circulating decreased fatty free level +HP:0040299 acids fatty level low +HP:0040298 endometrium hyperplasia +HP:0040298 endometrium hyperplastic +HP:0001852 between first second space toes wide +HP:0001852 between great second space toe +HP:0001852 big spaced toe wide +HP:0001852 1st 2nd between gap toes +HP:0001852 between first increased second space toes +HP:0001852 between first gap second toe +HP:0001852 1st 2nd between space toes wide +HP:0001852 first second spaced toes widely +HP:0001852 between first gap sandal second toes +HP:0001852 1st 2nd spaced toes widely +HP:0001852 gap sandal +HP:0001852 first gap second toe widened +HP:0001852 1st 2nd gap toes widened +HP:0001853 bifid distal phalanges toes +HP:0001853 bones notched outermost toes +HP:0001853 bifid phalanx terminal toe +HP:0001853 bifid distal phalanx toe +HP:0001854 podagra +HP:0001854 big gout toe +HP:0001857 bone outermost short toe +HP:0001857 distal phalanx short toe +HP:0001857 distal feet hypoplastic phalanges +HP:0010119 big bone density end increased part toe +HP:0010119 epiphyses hallux ivory +HP:0010118 big bone end irregular part toe +HP:0010118 epiphyses hallux irregular +HP:0500152 blood cystine levels low +HP:0500152 blood concentration cystine decreased +HP:0500152 hypocystinemia +HP:0010113 absent epiphysis hallux +HP:0010113 absent epiphyses hallux +HP:0010113 absent big bone end part toe +HP:0010112 central feet polydactyly +HP:0010112 foot mesoaxial polydactyly +HP:0012532 chronic pain +HP:0012532 lasting long pain +HP:0010110 absent big bone toe +HP:0010110 aplasia hallux phalanges +HP:0010117 big bone end fragmentation part toe +HP:0010117 epiphyses fragmentation hallux +HP:0010116 big bone end enlarged part toe +HP:0010116 enlarged epiphyses hallux +HP:0010115 cone epiphyses hallux shaped +HP:0010115 big bone cone end part shaped toe +HP:0010114 big bone bracket end part shaped toe +HP:0010114 bracket epiphyses hallux +HP:0031088 dryness vaginal +HP:0031089 edema palatal +HP:0031089 edema palate +HP:0000263 acrocephaly +HP:0000263 oxycephaly +HP:0000189 mouth narrow roof +HP:0000189 decreased dimension palate transverse +HP:0000189 decreased palatal width +HP:0000189 narrow palate +HP:0000188 decreased length lip upper vertical +HP:0000188 lip short upper +HP:0000188 decreased height lip upper +HP:0000188 decreased labial length upper +HP:0000188 lip shortening upper +HP:0000188 deficiency lip upper vertical +HP:0000188 decreased height labial upper +HP:0005359 aplasia thymus +HP:0005359 absent thymus +HP:0005359 lack shadow thymic +HP:0005359 absent shadow thymic +HP:0005359 athymia +HP:0003736 autophagic vacuoles +HP:0000185 cleft velum +HP:0000185 cleft palate soft +HP:0000185 cleft muscular palate +HP:0031081 cortisol glucagon impaired response stimulation test to +HP:0031082 glucagon growth hormone impaired response stimulation test to +HP:0031083 abnormal chorionic gonadotrophin human response stimulation test to +HP:0031083 abnormal hcg response stimulation test to +HP:0031084 excessive glucagon insulin response test to +HP:0031085 decreased level prealbumin +HP:0031086 ectopic ovary +HP:0031086 ovary undescended +HP:0031087 absent adolescent growth spurt +HP:0031087 absent growth pubertal spurt +HP:0010617 cardiac fibroma +HP:0031721 a develops divergent exotropia eye poorly seeing strabismus that type +HP:0031721 exotropia sensory +HP:0031721 exotropia secondary +HP:0010109 big hypoplastic toes +HP:0010109 hallux small +HP:0010109 hallux hypoplastic +HP:0010109 hallux short +HP:0010109 big short toe +HP:0010109 halluces short +HP:0009357 3rd abnormality distal finger phalanx +HP:0009357 3rd abnormality bone finger outermost +HP:0009357 abnormality finger middle phalanx terminal +HP:0009355 bone calcifications end finger innermost long middle part speckled +HP:0009355 3rd epiphysis finger phalanx proximal stippling +HP:0008665 clitoris hypertrophic +HP:0008665 clitoromegaly +HP:0008665 clitoral enlargement +HP:0008665 clitoris prominent +HP:0008665 clitoral hypertrophy +HP:0008665 clitoris enlarged +HP:0009354 bone end finger innermost long middle part small +HP:0009354 3rd epiphysis finger phalanx proximal small +HP:0005156 atrium hypoplastic left +HP:0005156 atrium hypoplasia left +HP:0005156 atrium heart left underdeveloped +HP:0005322 hanging low nasal septum +HP:0005322 nasal prominent septum +HP:0005322 nose septum visible +HP:0005322 nasal septum visible +HP:0005322 hanging low nose septum +HP:0005322 nose prominent septum +HP:0031720 distance exotropia simulated +HP:0008200 hyperparathyroidism primary +HP:0012530 abnormal dense granules number +HP:0005323 hemifacial hypertrophy +HP:0005323 facial hemihyperplasia +HP:0005323 disease friedreich s +HP:0005323 face half overgrowth +HP:0005323 face half hypertrophy +HP:0005323 facial hemihypertophy +HP:0005323 enlargement face half +HP:0005323 face half increase size +HP:0005323 enlargement hemifacial +HP:0005320 facial fat lack subcutaneous +HP:0005320 below facial fat lack skin +HP:0031880 eyelid laxity +HP:0031880 laxity lid +HP:0031881 decreased drainage tear +HP:0031882 agyria +HP:0031883 increased insulin proinsulin ratio +HP:0031884 abnormal csf glucose level +HP:0031885 hyperglycorrhachia +HP:0031886 abnormal c concentration ldl +HP:0031886 abnormal c ldl level +HP:0031886 abnormal cholesterol concentration ldl +HP:0031887 abnormal chylomicron concentration +HP:0031888 abnormal cholesterol concentration hdl +HP:0031889 abnormal cholesterol concentration vldl +HP:0012849 hemorrhage intestinal small +HP:0012849 bleeding intestinal small +HP:0012848 intestine narrowing small +HP:0012848 intestinal small stenosis +HP:0410209 cerebrospinal deficiency fluid folate +HP:0410209 csf deficiency folate +HP:0005327 expression facial loss +HP:0003988 disproportionately long ulnae +HP:0003988 long ulna +HP:0003989 notched ulna +HP:0009298 4th aplasia finger phalanx proximal +HP:0009298 absent bone finger innermost ring +HP:0410208 cotinine plasma positive serum test +HP:0005324 disturbance expression facial +HP:0006237 hinge joints prominent +HP:0006237 interphalangeal joints prominent +HP:0003639 epinephrine increased urinary +HP:0003639 elevated epinephrine urinary +HP:0003980 pseudarthrosis radius +HP:0009920 melanocytosis oculodermal +HP:0009920 fuscoceruleus nevus ophthalmomaxillaris +HP:0009920 fuscoceruleus naevus ophthalmomaxillaris +HP:0009920 nevus ota +HP:0009920 bulbi melanosis +HP:0003634 amyoplasia +HP:0003634 absent birth muscles since +HP:0003634 absence muscles +HP:0003635 below fat limbs loss skin tissue +HP:0003635 adipose extremities from loss subcutaneous tissue +HP:0003635 adipose limbs loss subcutaneous tissue +HP:0003984 dislocated posteriorly ulna +HP:0009297 4th defects finger middle osteolytic phalanx +HP:0009294 4th absent bone finger middle +HP:0009294 4th aplasia finger middle phalanx +HP:0009294 4th absent finger middle phalanx +HP:0009921 adduction deviation globe on retraction +HP:0009921 anomaly duane eye from limited movement +HP:0009921 anomaly duane eye from limited motility +HP:0009921 anomaly duane +HP:0004329 abnormality globe posterior segment +HP:0004329 abnormality eye posterior segment +HP:0004329 abnormal globe morphology posterior segment +HP:0004329 abnormality eyeball posterior segment +HP:0004329 abnormal eye morphology posterior segment +HP:0009922 artery hyaloid persistent +HP:0009922 artery hyaloid persistence +HP:0009922 arising disc from remnant vascular +HP:0002589 atresia gastrointestinal +HP:0003448 conduction decreased nerve sensory velocity +HP:0003448 decreased ncv sensory +HP:0003448 conduction decreased nerve sensory velocities +HP:0002587 projectile vomiting +HP:0002586 inflammation peritoneum +HP:0002586 peritonitis +HP:0002585 abnormality peritoneum +HP:0002584 hemorrhage intestinal +HP:0002584 bleeding intestinal +HP:0002583 colitis +HP:0002582 atrophic chronic gastritis +HP:0002580 volvulus +HP:0000729 autism disorders spectrum +HP:0000729 autistic behaviour +HP:0000729 developmental disorder pervasive +HP:0000729 autism disorder spectrum +HP:0000729 autistic behavior +HP:0000729 autistic behaviors +HP:0012633 asymmetry intraocular pressure +HP:0000721 lack play spontaneous +HP:0000720 mood swings +HP:0000723 behavior restrictive +HP:0000723 activities behavior interests restrictive +HP:0000723 behaviour restrictive +HP:0000723 behavior restricted +HP:0000722 compulsive disorder obsessive +HP:0000722 behavior compulsive obsessive +HP:0000725 episodes psychotic +HP:0410201 barbiturate hair positive test +HP:0000727 dementia frontal lobe +HP:0000726 dementia progressive +HP:0000726 dementia +HP:0100739 bulimia +HP:0100739 binge purge +HP:0100738 abnormal behavior eating +HP:0410200 barbiturate meconium positive test +HP:0011578 atrioventricular canal defect transitional +HP:0011579 atrioventricular canal defect unbalanced +HP:0011579 atrioventricular defect septal unbalanced +HP:0100731 cleft facial lateral +HP:0100731 6 cleft facial number tessier +HP:0100731 7 cleft number tessier +HP:0100731 8 cleft facial number tessier +HP:0100731 7 cleft facial number tessier +HP:0100731 cleft facial transverse +HP:0100730 bronchogenic cyst +HP:0100733 gland neoplasm parathyroid +HP:0100733 neoplasia parathyroid +HP:0011575 imperforate tricuspid valve +HP:0011575 tricuspid unopened valve +HP:0011572 membranous mitral stenosis supravalvular +HP:0011572 mitral ring supravalvular +HP:0011572 ring supramitral +HP:0100734 abnormality epiphysis morphology vertebral +HP:0100734 abnormality epiphyses vertebral +HP:0100734 abnormal bone end part shape vertebra +HP:0100737 abnormal hard morphology palate +HP:0100737 abnormality palate secondary +HP:0100737 abnormality hard palate +HP:0410206 circulating increased level nicotinurate +HP:0410206 circulating increased level n nicotinoylglycine +HP:0003180 acetabular flat roof +HP:0003180 acetabular flattened roof +HP:0003180 acetabulae horizontal +HP:0003180 acetabular horizontal roofs +HP:0003180 acetabular horizontal roof +HP:0003180 acetabular flat roofs +HP:0003117 abnormality circulating hormone level +HP:0003182 acetabular fossa shallow +HP:0003182 acetabulum shallow +HP:0003182 acetabular fossae shallow +HP:0003182 acetabulae shallow +HP:0003182 acetabula shallow +HP:0003183 pubis symphysis wide +HP:0003183 pubic symphysis wide +HP:0009128 absent extremities muscles small +HP:0009128 absent extremities muscles underdeveloped +HP:0009128 aplasia extremities hypoplasia involving musculature +HP:0004409 hyposmia +HP:0004409 impaired sense smell +HP:0004409 decreased sensation smell +HP:0003186 inverted nipples +HP:0003186 invaginated nipples +HP:0004320 fistula vaginal +HP:0009124 abnormality fat tissue +HP:0009124 abnormality adipose tissue +HP:0009124 abnormality fatty tissue +HP:0009124 abnormal adipose morphology tissue +HP:0009125 lipodystrophy +HP:0009125 fat healthy inability keep make tissue to +HP:0009126 adipose increased tissue +HP:0009126 fat increased tissue +HP:0009127 abnormality limbs musculature +HP:0009127 abnormal limb muscles +HP:0009127 arms issues legs muscle or +HP:0009120 aplasia hypoplasia involving sinuses +HP:0009121 abnormality axial skeleton +HP:0009121 abnormal axial morphology skeleton +HP:0009122 affecting aplasia axial bones hypoplasia skeleton +HP:0009123 hyperpigmentation hypo mixed skin +HP:0002763 abnormal cartilage morphology +HP:0002763 abnormal cartilage shape +HP:0030393 heffner tumor +HP:0030393 endolymphatic sac tumor +HP:0030393 aggressive ear middle papillary tumor +HP:0030393 adenocarcinoma endolymphatic grade low origin sac +HP:0002761 generalized joint laxity +HP:0002761 increased joint mobility +HP:0010877 strabismus unilateral +HP:0010877 monocular strabismus +HP:0002766 relatively short spine +HP:0030392 carcinoma choroid plexus +HP:0004325 decreased weight +HP:0004325 body decreased weight +HP:0004325 3rd less percentile than weight +HP:0004325 low weight +HP:0004325 body low weight +HP:0007609 edema hypoproteinemic +HP:0031579 7 cleft facial number tessier +HP:0003112 abnormality acid amino levels serum +HP:0003112 abnormality acid amino level serum +HP:0008459 agenesis cervical vertebral +HP:0008459 agenesis cervical vertebrae +HP:0008459 cervical missing vertebrae +HP:0030390 abnormality leukotriene metabolism +HP:0003447 axonal loss +HP:0008453 kyphoscoliosis +HP:0030397 abnormal dense granule platelet secretion +HP:0008451 hypoplasia posterior vertebral +HP:0008450 distance interpedicular narrow vertebral +HP:0008450 distances interpediculate narrowing +HP:0008450 interpedicular narrowing +HP:0008450 interpedicular narrow space +HP:0008450 distances interpediculate narrow +HP:0008457 caudal distances interpedicular narrowing +HP:0008457 caudal interpedicular narrowing +HP:0008456 c2 c3 subluxation +HP:0008455 agenesis partial sacral +HP:0008455 dysgenesis sacral +HP:0008455 dysplastic sacrum +HP:0008455 absence bones coccygeal sacral some +HP:0030396 abnormal granule platelet secretion +HP:0100454 5th defects middle osteolytic phalanx toe +HP:0100455 3rd defects osteolytic phalanx proximal toe +HP:0100456 4th defects osteolytic phalanx proximal toe +HP:0100457 5th defects osteolytic phalanx proximal toe +HP:0100450 4th curved distal phalanx toe +HP:0100450 4th bone curved outermost toe +HP:0100451 5th curved distal phalanx toe +HP:0100451 bone curved little outermost toe +HP:0100451 bone curved outermost pinkie toe +HP:0100451 bone curved outermost pinky toe +HP:0100452 3rd defects middle osteolytic phalanx toe +HP:0100453 4th defects middle osteolytic phalanx toe +HP:0011798 oncocytoma renal +HP:0030394 carcinoma fallopian tube +HP:0100458 3rd defects distal osteolytic phalanx toe +HP:0100458 3rd bone defects osteolytic outermost toe +HP:0100459 4th bone defects osteolytic outermost toe +HP:0100459 4th defects distal osteolytic phalanx toe +HP:0001019 erythrodermia generalized +HP:0001019 erythroderma generalized +HP:0001019 dermititis exfoliative +HP:0001019 erythroderma +HP:0032063 ankle effusion joint +HP:0012788 membrane mucous oral pigmentation reticulate +HP:0012788 mucosa oral pigmentation reticulate +HP:0012788 mottled mucosa oral pigmentation +HP:0032061 hypereosinophilia +HP:0032060 angiolymphoid eosinophilia hyperplasia with +HP:0032060 epithelioid hemangioma +HP:0032067 bicarbonate concentration elevated serum +HP:0032066 bicarbonate concentration decreased serum +HP:0032065 abnormal bicarbonate concentration serum +HP:0032064 disease eosinophilic gastrointestinal +HP:0032064 eosinophilic gastroenteritis +HP:0032064 eosinophilia gastrointestinal +HP:0032064 enteritis eosinophilic +HP:0032069 anti antibody positivity thyroglobulin +HP:0032068 increased mucus urinary +HP:0030399 abnormal alpha granule platelet secretion +HP:0005572 decreased excretion phosphate renal tubular +HP:0012885 duplication fallopian tube +HP:0012885 accessory fallopian tube +HP:0012884 fallopian torsion tube +HP:0012884 fallopian tube twisted +HP:0011833 drooping nasal tip +HP:0011833 nasal overhanging tip +HP:0011833 hooked nose tip +HP:0011833 hanging low nasal tip +HP:0008988 atrophy girdle muscle pelvic +HP:0008988 girdle muscle pelvic wasting +HP:0008985 fat increased intramuscular +HP:0008984 deficiency muscle neck +HP:0008984 hypoplasia muscle neck +HP:0008984 muscle neck underdevelopment +HP:0008984 hypotrophic muscle neck +HP:0008984 muscle neck small +HP:0008984 decreased muscle neck size +HP:0008986 agenesis diaphragm +HP:0008986 absent diaphragm +HP:0008981 calf hypertrophy muscles muscular +HP:0008981 calf hypertrophy +HP:0008981 calf hypertrophy muscle +HP:0008981 calf increased muscles size +HP:0012882 hyperplasia labia majora +HP:0012882 enlarged labia majora +HP:0012882 enlarged lips vaginal +HP:0012882 hyperplastic labia majora +HP:0025452 gangrenosum pyoderma +HP:0025453 adrenarche delayed +HP:0025102 basal dysgenesis ganglia +HP:0025451 adrenal rest testicular tumor +HP:0025456 abnormal csf level protein +HP:0025457 csf decreased protein +HP:0025457 csf low protein total +HP:0025457 hypoproteinorrhachia +HP:0025457 cerebrospinal decreased fluid protein total +HP:0025454 abnormal csf level metabolite +HP:0025455 5 csf hiaa low +HP:0025455 5 acid csf decreased hydroxyindolacetic +HP:0025455 5 csf decreased hiaa +HP:0025455 5 acid csf hydroxyindolacetic low +HP:0025108 angioma serpentinum +HP:0025109 activity cell kinase pyruvate red reduced +HP:0025109 activity erythrocyte kinase pyruvate reduced +HP:0025458 albumin csf decreased +HP:0025458 albumin below csf is level limit lower normal +HP:0025458 albumin csf low +HP:0025459 albumin csf increased ratio serum +HP:0008066 abnormal blistering skin +HP:0008066 bullae skin +HP:0008066 blisters skin +HP:0008066 blistering generalized +HP:0008066 blisters +HP:0001838 bottom foot rocker +HP:0001838 bottom feet rocker +HP:0001838 feet rockerbottom +HP:0001838 talus vertical +HP:0008067 abnormally hyperelastic loose or skin +HP:0008067 abnormally loose or skin stretchable +HP:0008067 abnormally hyperextensible lax or skin +HP:0008064 ichthyotic skin +HP:0008064 ichthyosis +HP:0008064 abnormality ichthyosiform skin +HP:0008064 hypertrophic ichthyosis +HP:0002593 intestinal lymphangiectasia +HP:0010478 abnormality urachus +HP:0031997 crackles early inspiratory +HP:0031728 hypermetropia mild +HP:0031728 hyperopia mild +HP:0010479 persistent urachus +HP:0010479 patent urachus +HP:0008062 affecting anterior aplasia eye hypoplasia segment +HP:0008063 aplasia hypoplasia lens +HP:0008063 absent lens underdeveloped +HP:0008063 absent lens small +HP:0008060 aplasia fovea hypoplasia +HP:0008060 absent fovea underdeveloped +HP:0009293 4th bone broad finger middle +HP:0009293 4th broad finger middle phalanx +HP:0100818 cage long rib +HP:0100818 long thorax +HP:0004053 bones dysharmonic hand ossification +HP:0004053 bones dysharmonic hand maturation +HP:0004053 bones disharmonic hand maturation +HP:0005914 absent bones hand long small +HP:0005914 hypoplastic metacarpals +HP:0005914 absent bones hand long underdeveloped +HP:0005914 absent hypoplastic metacarpals or +HP:0005914 absent bones hypoplastic metacarpal +HP:0005914 aplasia hypoplasia metacarpal +HP:0005914 absent hypoplastic metacarpals +HP:0005914 aplasia bones hypoplasia involving metacarpal +HP:0005914 aplastic hypoplastic metacarpals +HP:0005917 bones metacarpal supernumerary +HP:0005917 bones extra hand long +HP:0005916 abnormal bones metacarpal shape +HP:0005916 abnormal metacarpal morphology +HP:0005916 abnormal bones hand long shape +HP:0005910 fifth finger middle or phalanx rhomboid shaped triangular +HP:0005910 5th finger middle or phalanx rhomboid shaped triangular +HP:0005913 abnormality bone end hand long part +HP:0005913 abnormality epiphyses metacarpal +HP:0005912 atresia biliary +HP:0005912 atresia biliary duct +HP:0002867 abnormalities iliac +HP:0002867 abnormality ilium +HP:0005918 abnormality finger phalanx +HP:0005918 abnormality phalanges +HP:0005918 abnormal form hand phalanges +HP:0005918 abnormal finger morphology phalanx +HP:0005918 abnormality bones finger +HP:0005918 abnormality hand phalanges +HP:0010470 extra testes +HP:0010470 supernumerary testes +HP:0010470 polyorchidism +HP:0010471 oligosacchariduria +HP:0031995 squawks +HP:3000010 abnormality muscle orbicularis oris +HP:0012547 abnormal eye involuntary movements +HP:0012544 aldolase elevated level +HP:3000013 abnormality muscle platysma +HP:3000013 abnormality platysma +HP:3000014 abnormality muscle procerus +HP:3000015 abnormality muscle risorius +HP:3000016 abnormality muscle styloglossus +HP:3000017 abnormality muscle temporalis +HP:3000018 abnormality major muscle zygomaticus +HP:3000019 abnormality cheek inside lining +HP:3000019 abnormality cheek mucosa +HP:3000019 abnormality buccal mucosa +HP:0007843 back blood eye narrowing vessels +HP:0007843 attenuation blood retinal vessels +HP:0002764 calcification chondral stippled +HP:0012548 fatty infiltration muscle skeletal +HP:0012548 fatty muscle replacement skeletal +HP:0012549 conjunctival lipoma +HP:0031718 consecutive exotropia +HP:0031719 distance exotropia true +HP:0009257 4th distal finger phalanx pseudoepiphysis +HP:0031710 compensatory head left shoulder tilt to +HP:0031711 abdominal aneurysm aortic asymmetric +HP:0031713 constant exotropia +HP:0031714 distance exotropia +HP:0031715 exotropia near +HP:0031716 cyclic exotropia +HP:0031717 alternating exotropia +HP:0031717 alternating strabismus +HP:0006460 ankles increased laxity +HP:0006461 capital epiphyses femoral slipped +HP:0006461 end innermost part slipped thighbone +HP:0006461 capilal epiphysis femoral slipped +HP:0006461 epiphysiolysis femoral proximal +HP:0006462 bone demineralization generalized +HP:0006463 limbs lower rickets +HP:0006465 bones long periosteal thickening tubular +HP:0006466 ankles contractures +HP:0006466 ankle contracture +HP:0006466 ankle contractures +HP:0006467 limited movement shoulder +HP:0009252 bone cone end finger outermost part ring shaped +HP:0009252 4th cone distal epiphysis finger phalanx shaped +HP:0011205 activity eeg intermittent slow with +HP:0009253 4th distal enlarged epiphysis finger phalanx +HP:0009253 bone end enlarged finger outermost part ring +HP:0009250 4th absent distal epiphysis finger phalanx +HP:0009250 absent bone end finger outermost part ring +HP:0009251 bone bracket end finger outermost part ring shaped +HP:0009251 4th bracket distal epiphysis finger phalanx +HP:0005150 abnormal atrioventricular conduction +HP:0010954 heart hypoplastic right syndrome +HP:0010954 heart hypoplastic right +HP:0010954 heart right underdeveloped +HP:0001279 fainting spell +HP:0001279 syncope +HP:0007207 clonic photosensitive seizures tonic +HP:0031816 abnormal morphology oral +HP:0009728 muscle striated tumors +HP:0009728 muscle neoplasm striated +HP:0009729 cardiac rhabdomyoma +HP:0009722 dental enamel pits +HP:0009722 enamel pits tooth +HP:0009722 enamel pitting tooth +HP:0009722 dental enamel pitting +HP:0009723 abnormality region subungual +HP:0009720 adenoma sebaceous +HP:0009720 adenomas sebaceous +HP:0009720 adenoma sebaceum +HP:0009720 angiofibromas facial +HP:0009721 patch shagreen +HP:0009726 renal tumors +HP:0009726 neoplasia renal +HP:0009726 neoplasm renal +HP:0009726 kidneys neoplasia +HP:0009726 cancer kidney +HP:0009727 achromatic patches retinal +HP:0009727 areas chorioretinal hypopigmentation out punched +HP:0009724 fibromas subungual +HP:0009724 fibroma subungual +HP:0009725 bladder cancer +HP:0009725 bladder tumor +HP:0009725 bladder neoplasm +HP:0001270 delayed milestones motor +HP:0001270 delay motor +HP:0001270 achieved developmental milestones motor not +HP:0001270 delay development motor +HP:0001270 development motor retarded +HP:0001270 development milestones motor no +HP:0001270 delayed early milestones motor +HP:0001270 delay developmental motor +HP:0001270 delay locomotor +HP:0001270 delayed development motor +HP:0001270 motor retardation +HP:0001271 polyneuropathy +HP:0001271 disease nerve peripheral +HP:0008065 absent skin small +HP:0008065 absent skin underdeveloped +HP:0008065 aplasia hypoplasia skin +HP:0005510 blood decrease erythrocyte number transient +HP:0005510 erythroblastopenia transient +HP:0001273 abnormal callosum corpus +HP:0001273 abnormal callosum corpus morphology +HP:0001273 abnormality callosum corpus +HP:0006769 myxoid subcutaneous tumors +HP:0011200 discharges eeg epileptiform generalized polymorphic with +HP:0001274 absent callosum corpus dysplastic or +HP:0001274 absent callosum corpus +HP:0001274 agenesis callosum corpus +HP:0001274 absence callosum corpus +HP:0001274 agenesis callosal +HP:0030976 abnormal activity factor viii +HP:0001276 increased muscle tone +HP:0001276 muscles rigidity spasticity +HP:0001276 hypertonia muscle +HP:0001276 hypertonicity +HP:0001276 hypertonia +HP:0005513 count increased megakaryocyte +HP:0009461 3rd finger short +HP:0009461 3rd finger hypoplastic small +HP:0009461 finger middle short +HP:0009460 absent finger middle +HP:0009460 3rd aplasia finger +HP:0009463 3rd deviation finger ulnar +HP:0009463 deviation fingers middle ulnar +HP:0009462 finger inward middle turned +HP:0009462 3rd deviation finger radial +HP:0009465 deviation finger ulnar +HP:0009465 drift ulnar +HP:0009465 bends finger pinky toward +HP:0009464 deviation fingers index ulnar +HP:0009464 2nd deviation finger ulnar +HP:0009464 deviated finger index medially +HP:0009464 angulation finger index ulnar +HP:0009464 deviation finger second ulnar +HP:0009467 deviated finger index radially +HP:0009467 2nd deviation finger radial +HP:0009467 clinodactyly finger second +HP:0009466 deviated phalanges radially +HP:0009466 deviated fingers radially +HP:0009466 deviation finger radial +HP:0009469 3rd contracture finger hinge joint outermost +HP:0009469 3rd contracture distal finger interphalangeal joint +HP:0009468 displaced finger index +HP:0009468 deviated finger index +HP:0009468 2nd deviation finger +HP:0001443 abnormality glutes +HP:0001443 abnormality gluteal musculature +HP:0001441 abnormality musculature thigh +HP:0001441 abnormal muscles thigh +HP:0001440 bones involving metatarsal synostosis +HP:0001440 metatarsal synostosis +HP:0001440 fusion metatarsals +HP:0001440 bones feet fusion long +HP:0001115 cataract polar posterior +HP:0001446 abnormal limb muscles upper +HP:0001446 abnormality limbs musculature upper +HP:0001445 abnormality girdle hip musculature +HP:0030217 apraxia limb +HP:0001119 keratoglobus +HP:0001118 cataract juvenile +HP:0001449 bones duplication foot long +HP:0001449 bones duplication metatarsal +HP:0005512 impaired killing neutrophil staphylococci +HP:0005726 bulbous hypoplastic thumbs tips with +HP:0005726 bulbous short thumbs tips with +HP:0000535 eyebrows sparse thin +HP:0000535 eyebrow sparse thin +HP:0005725 nonopposable thumb triphalangeal +HP:0005722 hyperextensible thumb +HP:0005722 double jointed thumb +HP:0005723 sella shaped shoe turcica +HP:0005720 bones hand long shortened +HP:0005720 all metacarpals shortening +HP:0030644 blind enlargment spot +HP:0000538 pseudopapilledema +HP:0000539 abnormality refraction +HP:0003218 acid high levels orotic urine +HP:0003218 oroticaciduria +HP:0003218 aciduria orotic +HP:0100924 phalanges sclerosis toes +HP:0100924 bone density increased toe +HP:0100924 phalanx sclerosis toe +HP:0100925 bone foot sclerosis +HP:0100925 bone density foot increased +HP:0100925 bones feet sclerosis +HP:0100926 2nd bone density increased toe +HP:0100926 2nd phalanx sclerosis toe +HP:0100926 2nd phalanges sclerosis toe +HP:0100927 3rd phalanx sclerosis toe +HP:0100927 3rd phalanges sclerosis toe +HP:0100927 3rd bone density increased toe +HP:0100920 4th finger phalanx sclerosis +HP:0100920 bone density finger increased ring +HP:0100920 4th finger phalanges sclerosis +HP:0100921 bone density finger increased pinky +HP:0100921 5th finger phalanges sclerosis +HP:0100921 bone density finger increased little +HP:0100921 bone density finger increased pinkie +HP:0100921 5th finger phalanx sclerosis +HP:0100922 phalanx sclerosis thumb +HP:0100922 phalanges sclerosis thumb +HP:0100922 bone density increased thumb +HP:0100923 clavicle osteosclerosis +HP:0100923 clavicular sclerosis +HP:0100923 bone collarbone density increased +HP:0100923 clavicles osteosclerosis +HP:0100928 4th bone density increased toe +HP:0100928 4th phalanx sclerosis toe +HP:0100928 4th phalanges sclerosis toe +HP:0100929 bone density increased pinkie toe +HP:0100929 5th phalanges sclerosis toe +HP:0100929 5th phalanx sclerosis toe +HP:0100929 bone density increased pinky toe +HP:0100929 bone density increased little toe +HP:0008750 atresia laryngeal +HP:0030643 lesions like retinal vitelliform +HP:0030642 albipunctatus fundus +HP:0008948 amyotrophy limb proximal upper +HP:0008948 atrophy limbs muscle proximal upper +HP:0008948 atrophy limb muscle proximal upper +HP:0008753 absent epiglottis +HP:0008753 aplasia epiglottis +HP:0100161 3rd bone end fragmentation innermost part toe +HP:0100161 3rd epiphysis fragmentation phalanx proximal toe +HP:0007034 generalized hyperreflexia +HP:0100162 3rd bone end innermost irregular part toe +HP:0100162 3rd epiphysis irregular phalanx proximal toe +HP:0007035 anterior encephalocele +HP:0007201 artery build cerebral plaque up +HP:0007201 artery atherosclerosis cerebral +HP:0008756 bowing cords vocal +HP:0030044 contracture digit flexion +HP:0100165 3rd epiphysis phalanx proximal small toe +HP:0100165 3rd bone end innermost part small toe +HP:0100166 3rd bone calcifications end innermost part speckled toe +HP:0100166 3rd epiphysis phalanx proximal stippling toe +HP:0100514 abnormality e metabolism vitamin +HP:0040332 cerebral hypointensity matter mri multifocal on white +HP:0040333 cerebral confluent hypointensity matter mri on white +HP:0040330 cerebral confluent hyperintensity matter mri on white +HP:0100167 3rd bone end innermost part toe triangular +HP:0100167 3rd epiphysis phalanx proximal toe triangular +HP:0040334 purulent rhinitis +HP:0010562 keloids +HP:0010560 clavicles undulate +HP:0010560 collarbone wavy +HP:0010560 clavicles wavy +HP:0010561 ribs wavy +HP:0010561 ribs undulate +HP:0010566 hamartoma +HP:0010567 metatarsals shaped y +HP:0010567 bone foot long shaped y +HP:0010564 bifid epiglottis +HP:0010565 aplasia epiglottis hypoplasia +HP:0010568 eye hamartoma +HP:0010569 3beta 5 7 cholesta dien elevated levels ol +HP:0010569 7 dehydrocholesterol elevated +HP:0031492 epithelial neoplasm +HP:0031580 8 cleft facial number tessier +HP:0011961 azoospermia non obstructive +HP:0011961 azoospermia testicular +HP:0011960 gliosis nigra substantia +HP:0004420 artery blood clot +HP:0004420 arterial thrombosis +HP:0011962 azoospermia obstructive +HP:0011965 abnormality citrulline metabolism +HP:0011964 intermittent muscle painful spasms +HP:0011967 hypocupremia +HP:0011967 copper deficiency +HP:0011966 citrulline elevated plasma +HP:0011969 elevated level lh +HP:0011969 elevated hormone luteinizing +HP:0011969 circulating hormone increased level luteinizing +HP:0011969 circulating elevated hormone level luteinizing +HP:0011968 feeding problems +HP:0011968 difficulties feeding +HP:0011968 feeding poor +HP:0002979 bowed legs +HP:0002979 bowing legs +HP:0002979 bowed limbs lower +HP:0002979 bow legs +HP:0002979 bow leggedness +HP:0002977 aplasia central hypoplasia involving nervous system +HP:0002977 absent central nervous system tissue underdeveloped +HP:0002974 radioulnar synostosis +HP:0002974 bones forearm fused +HP:0002972 delayed hypersensitivity reduced +HP:0002972 delayed hypersensitivity impaired +HP:0002972 antigens decreased reactivity skin test to +HP:0002972 deficiency delayed hypersensitivity skin +HP:0002973 abnormality forearm +HP:0002970 at bowing knees outward +HP:0002970 bow leggedness outward +HP:0002970 genu varum +HP:0002970 genu vara +HP:0002970 genua vara +HP:0002971 absent blood lymphocytes microvilli on peripheral surface +HP:0010306 abdomen between length neck shorter than typical +HP:0010306 short thorax +HP:0010307 stridor +HP:0010307 breathing noisy +HP:0010304 diverticulum meningeal spinal +HP:0010305 agenesis sacral +HP:0010305 absence sacrum +HP:0010305 agenesis sacrococcygeal +HP:0010305 absent sacrum +HP:0010302 spinal tumor +HP:0010302 cord spinal tumor +HP:0010302 spinal tumors +HP:0010303 abnormality meninges spinal +HP:0010303 abnormal meningeal morphology spinal +HP:0010300 abnormally low pitched voice +HP:0011208 3 activity eeg generalized grade slow with +HP:0010308 asternia +HP:0010309 cleft sternal +HP:0010309 bifid sternum +HP:0032143 burning mouth +HP:0030048 colpocephaly +HP:0012450 bowel infrequent movements +HP:0012450 chronic constipation +HP:0003378 axon degeneration regeneration +HP:0003378 axonal degeneration regeneration +HP:0003376 gait steppage +HP:0003376 high stepping +HP:0003375 greater narrow notches sacrosciatic +HP:0003375 notches sacrosciatic small +HP:0003375 greater narrowed notch sciatic +HP:0003375 narrowed notch sacrosciatic +HP:0003375 notch sacrosciatic small +HP:0003375 narrow notches sciatic +HP:0003375 narrow notch sacrosciatic +HP:0003371 enlargement epiphysis femoral proximal +HP:0003371 capital enlarged epiphyses femoral +HP:0003371 end enlarged innermost part thighbone +HP:0003370 end flat innermost part thighbone +HP:0003370 epiphyses femoral flattened proximal +HP:0003370 epiphyses femoral flat proximal +HP:0003370 capital epiphyses femoral flat +HP:0003370 capital epiphysis femoral flat +HP:0004279 hands hypoplastic +HP:0004279 palms short +HP:0004279 palm short +HP:0004279 hands short +HP:0011209 4 activity eeg generalized grade slow with +HP:0011209 eeg flat line +HP:0031657 abnormal heart sound +HP:0004319 aldosterone circulating decreased level +HP:0004319 aldosterone decreased serum +HP:0004319 hypoaldosteronism +HP:0004319 aldosterone blood level low +HP:0004319 aldosterone decreased +HP:0004319 insufficiency mineralocorticoid +HP:0004319 aldosterone decreased production +HP:0004278 bones hand involving synostosis +HP:0004278 bones fused hand +HP:0031527 fluid intra retinal +HP:0031527 fluid intraretinal +HP:0031526 fluid retinal sub +HP:0031526 fluid subretinal +HP:0031525 keratoacanthoma +HP:0031524 ampulla carcinoma vater +HP:0031523 gland oncocytoma salivary +HP:0031523 oncocytoma parotid +HP:0031522 carcinoma cell cervix clear +HP:0031522 adenocarcinoma cell cervical clear +HP:0031521 adenocarcinoma cell clear vaginal +HP:0031521 adenocarcinoma cell clear vagina +HP:0031520 groin pain +HP:0031529 deposits focal subretinal +HP:0031528 deposits subretinal +HP:0002398 alpha anterior cells cord degeneration horn motor neurons spinal +HP:0002398 anterior cells cord degeneration horn spinal +HP:0002398 anterior cells horn loss progressive +HP:0002398 anterior cells degeneration horn +HP:0002398 anterior cell cord degeneration horn spinal +HP:0002398 anterior cells cord horn loss spinal +HP:0002398 anterior cell horn loss +HP:0002392 3 4 eeg hz multispike spike waves +HP:0002392 complexes eeg polyspike wave with +HP:0002390 arteriovenous malformation spinal +HP:0002396 cogwheel rigidity +HP:0002395 hyperreflexia limbs lower +HP:0002395 deep increased limbs lower reflexes tendon +HP:0002395 hyperreflexia limb lower +HP:0002395 leg lower overactive reflex +HP:0002395 hyperreflexia leg +HP:0002395 brisk 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imperforate +HP:0002023 anal atresia +HP:0002023 absent anus +HP:0410214 blood cord hypercapnia +HP:0410214 blood carbon cord dioxide high level +HP:0410215 blood carbon cord dioxide level low +HP:0410215 blood cord hypocapnia +HP:0410216 5 abnormal blood level methyltetrahydrofolate +HP:0410217 5 blood level methyltetrahydrofolate reduced +HP:0410210 abnormal blood cord measurement +HP:0410211 abnormal blood cord gas level +HP:0410212 blood cord hyperoxemia +HP:0410212 blood cord high level oxygen +HP:0410213 blood cord hypoxemia +HP:0410213 blood cord level low oxygen +HP:0030384 b cells decreased marginal proportion zone +HP:0030385 b cells increased marginal proportion zone +HP:0030386 abnormal b cells class memory proportion switched +HP:0030387 b cells class increased memory proportion switched +HP:0410218 arch dental disorder mandibular maxillary relationship +HP:0410218 hypoplasia mandible maxilla relative to +HP:0012222 arachnoid hemangiomatosis +HP:0012221 bullosa epidermolysis pretibial +HP:0012221 blistering pretibial +HP:0030383 abnormal b cells marginal proportion zone +HP:0007616 patch salmon +HP:0007616 bite stork +HP:0007616 neck on port stain wine +HP:0007616 angel kiss s +HP:0007616 flammeus nevus nuchae +HP:0007617 fine pigmentation reticulate skin +HP:0007610 blotching pigmentation skin +HP:0007613 keratoses palms soles spinous +HP:0007618 calcification subcutaneous +HP:0007618 calcification skin +HP:0100607 menstruation painful +HP:0100607 dysmenorrhea +HP:0001618 dysphonia +HP:0001618 inability produce sounds to voice +HP:0001615 cry hoarse +HP:0001612 cry weak +HP:0200063 colorectal polyposis +HP:0200063 colorectal polyps +HP:0001611 nasal voice +HP:0001611 nasal speech +HP:0001611 hypernasal speech +HP:0001611 hypernasal voice +HP:0030656 umbilical varix vein +HP:0030657 cord haematoma umbilical +HP:0030657 cord hematoma umbilical +HP:0030654 cord cyst umbilical +HP:0030655 cord knot umbilical +HP:0030652 haze vitreous +HP:0004272 bones cortical hand thinning +HP:0007470 nodules periarticular subcutaneous +HP:0007471 axillary groin hyperpigmentation hypopigmentation +HP:0031490 hemangioma lip +HP:0007473 crusting dermatitis erythematous +HP:0007475 bullous erythroderma ichthyosiform +HP:0007475 epidermolytic hyperkeratosis +HP:0030658 cord insertion marginal umbilical +HP:0030658 cord insertion marginal +HP:0030659 cord insertion velamentous +HP:0100155 3rd bone calcifications end middle part speckled toe +HP:0100155 3rd epiphysis middle phalanx stippling toe +HP:0100154 3rd bone end middle part small toe +HP:0100154 3rd epiphysis middle phalanx small toe +HP:0100157 3rd absent epiphysis phalanx proximal toe +HP:0100157 3rd absent bone end innermost part toe +HP:0100156 3rd bone end middle part toe triangular +HP:0100156 3rd epiphysis middle phalanx toe triangular +HP:0100151 3rd epiphysis irregular middle phalanx toe +HP:0100151 3rd bone end irregular middle part toe +HP:0100150 3rd epiphysis fragmentation middle phalanx toe +HP:0100150 3rd bone end fragmentation middle part toe +HP:0100153 3rd middle phalanx pseudoepiphysis toe +HP:0100152 3rd bone density end increased middle part toe +HP:0100152 3rd epiphysis ivory middle phalanx toe +HP:0100159 3rd bone cone end innermost part shaped toe +HP:0100159 3rd cone epiphysis phalanx proximal shaped toe +HP:0100158 3rd bracket epiphysis phalanx proximal toe +HP:0100158 3rd bone bracket end innermost part shaped toe +HP:0009707 4th involving metacarpal synostosis +HP:0009707 4th bone fusion hand involving long +HP:0030739 altman iii sacrococcygeal teratoma type +HP:0030738 altman ii sacrococcygeal teratoma type +HP:0030735 junction obstruction ureterovesical +HP:0030737 altman i sacrococcygeal teratoma type +HP:0030736 sacrococcygeal teratoma +HP:0030731 carcinoma +HP:0030730 meningocele parietal +HP:0030733 abdominal defect vesicoallantoic wall +HP:0030732 dysplasia tricuspid valve +HP:0030732 dysplastic tricuspid valve +HP:0005571 increased percent phosphorus reabsorption tubular +HP:0005571 increased phosphate reabsorption renal tubular +HP:0030609 layer loss macular oct on photoreceptor +HP:0006879 atrophy pontocerebellar +HP:0006873 demyelination peripheral progressive symmetrical +HP:0006872 cerebrum small +HP:0006872 cerebral hypoplasia +HP:0006872 cerebrum underdeveloped +HP:0006870 holoprosencephaly lobar +HP:0040101 atresia auditory canal cutaneous external +HP:0010124 abnormality big bone end outermost part toe +HP:0010124 abnormality distal epiphysis hallux phalanx +HP:0040103 auditory canal cutaneous external stenosis +HP:0040102 atresia auditory canal external osseous +HP:0040104 auditory canal external osseous stenosis +HP:0040107 abnormality canal morphological posterior semicircular +HP:0040106 abnormality canal horizontal morphological semicircular +HP:0040106 abnormality canal lateral morphological semicircular +HP:0040109 abnormality morphological utricle +HP:0040108 abnormality anterior canal morphological semicircular +HP:0410220 anti antibody dairy ige increased level protein +HP:0410220 anti antibody dairy ige increased level +HP:0005115 arrhythmia supraventricular +HP:0005115 arrhythmias supraventricular +HP:0005117 blood diastolic elevated pressure +HP:0005116 arterial tortuosity +HP:0005110 atrial fibrillation +HP:0005110 chambers heart heartbeat irregular quivering resulting upper +HP:0005113 aortic arch dilatation +HP:0005113 aneurysm aortic arch +HP:0005453 absent hypoplastic paranasal sinuses +HP:0006709 absent nipples or rudimentary +HP:0006709 absent nipples underdeveloped +HP:0006709 aplasia hypoplasia nipples +HP:0006709 absent nipples rudimentary +HP:0006709 absent nipples small +HP:0006703 aplasia hypoplasia lungs +HP:0006703 absent lungs underdeveloped +HP:0006703 absent lungs small +HP:0006702 artery coronary dissection +HP:0006705 abnormality atrioventricular valves +HP:0006705 abnormal atrioventricular morphology valve +HP:0006704 abnormal artery coronary morphology +HP:0006707 abnormality liver vasculature +HP:0006707 abnormality hepatic vasculature +HP:0006707 abnormality blood liver vessels +HP:0006706 cystic disease liver +HP:0030780 abnormality anticoagulant c pathway protein +HP:0009173 5th curved finger middle phalanx +HP:0009173 bone curved finger middle pinky +HP:0009173 bone curved finger little middle +HP:0009173 bone curved finger middle pinkie +HP:0002918 hypermagnesemia +HP:0002918 blood high levels magnesium +HP:0012110 hypoplasia pontine +HP:0012110 hypoplasia pons +HP:0009210 5th finger middle phalanx pseudoepiphysis +HP:0010179 affecting phalanges symphalangism toes +HP:0010179 bones fused toe +HP:0010178 patchy phalanx sclerosis toe +HP:0010178 patchy phalanges sclerosis toes +HP:0010178 bone density increase toe uneven +HP:0010175 bullet phalanges shaped toes +HP:0010175 bullet phalanx shaped toe +HP:0010175 bone bullet shaped toe +HP:0010174 bones toe wide +HP:0010174 broad phalanx toes +HP:0010177 defects osteolytic phalanges toes +HP:0010176 curved phalanges toes +HP:0010176 bone curved toe +HP:0010176 curved phalanx toe +HP:0010171 bones calcifications long speckled toe +HP:0010171 epiphyses stippling toes +HP:0010171 epiphyseal phalanges stippling toe +HP:0010170 bones end part small toe +HP:0010170 epiphyses small toes +HP:0010173 absent bones small toe +HP:0010173 aplasia hypoplasia phalanges toes +HP:0010173 absent bones toe underdeveloped +HP:0010172 epiphyses toes triangular +HP:0010172 bones end part toe triangular +HP:0031062 ability impaired transferring +HP:0031063 ability feeding impaired +HP:0031060 ability dress impaired oneself to +HP:0031061 ability impaired toileting +HP:0031066 abnormal ovarian physiology +HP:0031067 empty follicle ovarian +HP:0031067 empty follicle syndrome +HP:0031064 continence impaired +HP:0031065 abnormal morphology ovarian +HP:0031068 femoral increased torsion +HP:0031069 abnormal femoral torsion +HP:0011600 abnormal apex direction ventricular 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foot medial +HP:0008083 2nd 5th bones middle toe underdeveloped +HP:0008083 2nd 5th hypoplasia middle phalangeal toe +HP:0005439 bone complex decreased size zygomaticomaxillary +HP:0005439 bone complex hypoplasia malar +HP:0005439 complex hypoplasia zygomaticomaxillary +HP:0005439 bone complex deficiency zygomaticomaxillary +HP:0005439 bone complex decreased projection zygomaticomaxillary +HP:0005439 bone complex underdevelopment zygomaticomaxillary +HP:0005439 hypoplasia maxillozygomatic +HP:0003963 bones defects forearm lytic +HP:0003612 chloride ferric positive test +HP:0003613 antibody antiphospholipid positivity +HP:0003613 antibody antiphospholipid +HP:0003613 antibodies antiphospholipid +HP:0003613 antibody phospholipid positivity +HP:0003966 bones foci forearm sclerotic +HP:0003967 bones forearm sclerotic +HP:0003967 bone bones density forearm increased +HP:0003964 bones forearm osteoporotic +HP:0003965 bones forearm pseudarthrosis +HP:0003969 bones forearm slender +HP:0100669 abnormal cavity oral pigmentation +HP:0100669 abnormal membrane mucous oral pigmentation +HP:0100669 abnormal mucosa oral pigmentation +HP:0100669 abnormal gingivae mucosa oral pigmentation +HP:0100669 abnormal color mucosa oral +HP:0010799 pinealoma +HP:0010798 lentigo lip +HP:0010798 freckle lip +HP:0010798 ephelis lip +HP:0010798 labial lentigo +HP:0002563 constrictive pericarditis +HP:0011359 dry hair +HP:0002566 intestinal malrotation +HP:0002566 malrotation +HP:0002566 gut malrotation +HP:0010791 cells hyperplasia leydig +HP:0010790 cells hyoplasia leydig +HP:0010793 duplicated nail +HP:0010793 nail notched +HP:0010793 bifid nail +HP:0010795 cerebellar glioma +HP:0010794 cognition constructive impaired visuospatial +HP:0010797 hemangioblastoma +HP:0010797 haemangioblastoma +HP:0010796 brainstem glioma +HP:0000703 dentinogenesis imperfecta +HP:0000700 periapical radiolucency +HP:0000700 bone loss periapical +HP:0000700 granuloma periapical +HP:0000700 lesion periapical +HP:0000700 around bone loss root tooth +HP:0000700 periapical radiolucencies +HP:0000700 cyst periapical +HP:0000700 around dark on ray root spot tooth x +HP:0000707 abnormalities neurologic +HP:0000707 brain cord issue or spinal +HP:0000707 abnormality neurological +HP:0000707 abnormality nervous system +HP:0000706 eruption failure tooth +HP:0000706 anodontia pseudo +HP:0000706 tooth unerupted +HP:0000706 pseudoanodontia +HP:0000706 dentition unerupted +HP:0000705 amelogenesis imperfecta +HP:0000704 disease gum +HP:0000704 periodontitis +HP:0000704 disease periodontal +HP:0000704 pyorrhea +HP:0000709 psychosis +HP:0000708 abnormalities behavioral psychiatric +HP:0000708 abnormality behavioral +HP:0000708 disorders psychiatric +HP:0000708 behavioral symptoms +HP:0000708 behavioral changes +HP:0000708 behavioral problems +HP:0000708 disturbances psychiatric +HP:0000708 abnormality behavioural psychiatric +HP:0000708 behavioral disorders +HP:0000708 behavioral disturbances +HP:0011550 absent atrioventricular biventricular connection heart left right sided straddling valve with +HP:0011551 absent atrioventricular atrium connection left right sided to ventricle +HP:0100711 abnormality spine thoracic +HP:0011221 creases face frontal +HP:0011221 creases forehead vertical +HP:0011221 forehead rhytids vertical +HP:0011221 forehead vertical wrinkles +HP:0011554 atrioventricular connection double inlet +HP:0011555 double inlet left ventricle +HP:0011556 double inlet right ventricle +HP:0011225 epiblepharon +HP:0011558 atrioventricular common double inlet orifice single to ventricle with +HP:0011559 atrioventricular double inlet single to two valves ventricle with +HP:0011228 arch eyebrow lack +HP:0011228 eyebrow straight +HP:0011228 eyebrows straight +HP:0011228 curvature eyebrow lack +HP:0011228 eyebrow flat +HP:0011228 eyebrow horizontal +HP:0100718 rupture uterine +HP:0008559 helices superior underdeveloped +HP:0008559 helix hypoplastic superior +HP:0004466 auditory brainstem evoked potentials prolonged +HP:0009147 bone end enlarged finger outermost part pinkie +HP:0009147 5th distal enlarged epiphysis finger phalanx +HP:0009147 bone end enlarged finger outermost part pinky +HP:0009147 bone end enlarged finger little outermost part +HP:0009144 axial bones skeleton supernumerary +HP:0009145 abnormality arteries cerebral +HP:0009145 abnormality artery cerebral +HP:0009145 abnormal artery cerebral morphology +HP:0009142 bones duplication extremities involving upper +HP:0004463 absent auditory brainstem responses +HP:0004463 auditory brainstem no response +HP:0009140 bones feet fusion involving +HP:0009140 bones feet involving synostosis +HP:0009141 depletion dna mitochondrial muscle tissue +HP:0009141 depletion dna mitochondrial muscle skeletal tissue +HP:0004398 gastrointestinal lining sore tract +HP:0004398 peptic ulcer +HP:0004399 atresia pyloric +HP:0009148 bone end finger outermost part pinky small +HP:0009148 bone end finger outermost part pinkie small 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palatal +HP:0002707 palate telangiectases +HP:0002707 palate telangiectasia +HP:0002707 palatal telangiectasia +HP:0002700 foramen large magnum +HP:0002700 dilation foramen magnum +HP:0002700 foramen magnum wide +HP:0002700 big foramen magnum +HP:0002700 diameter foramen increased magnum +HP:0002700 circumference foramen increased magnum +HP:0002700 enlarged foramen magnum +HP:0002700 foramen hyperplasia magnum +HP:0002703 abnormality bone cranium formation +HP:0002703 abnormality cranium ossification +HP:0002703 abnormality bone calvarium formation +HP:0002703 abnormality ossification skull +HP:0002703 abnormality bone cranium mineralization +HP:0002703 abnormality bone mineralization skull +HP:0002703 abnormality bone formation skull +HP:0002703 abnormality calvarium ossification +HP:0002703 abnormality bone calcification skull +HP:0002703 abnormality bone calcification cranium +HP:0002703 abnormality bone calvarium mineralization +HP:0002703 abnormality bone calcification calvarium +HP:0000953 hyperpigmentation skin +HP:0000953 hyperpigmented lesion +HP:0000953 darkened patchy skin +HP:0000953 melanoderma +HP:0000953 cutaneous hyperpigmentation +HP:0000953 increased pigmentation skin +HP:0000953 melanodermia +HP:0012739 intestine small undeveloped +HP:0012739 agenesis intestine small +HP:0012739 agenesis bowel small +HP:0000058 abnormality labia +HP:0031142 abnormal echogenicity hepatic +HP:0002708 median palatal prominent raphe +HP:0002708 medial palatal prominent suture +HP:0002708 central palatal prominent ridge +HP:0002708 central mouth on prominent ridge roof +HP:0011340 cleft incomplete lip upper +HP:0011340 cheiloschisis incomplete +HP:0011340 cleft lip partial upper +HP:0011340 cleft lip notched upper +HP:0011340 cleft forme fruste lip unilateral +HP:0031119 aortic bicuspid cusp fusion left right valve with +HP:0008439 hemivertebrae lumbar +HP:0008438 abnormalities arch vertebral +HP:0008438 anomaly arch vertebral +HP:0100438 4th bone bullet proximal shaped toe +HP:0100438 4th bullet phalanx proximal shaped toe +HP:0100439 bone bullet innermost pinkie shaped toe +HP:0100439 5th bullet phalanx proximal shaped toe +HP:0100439 bone bullet innermost pinky shaped toe +HP:0100439 bone bullet innermost little shaped toe +HP:0100436 5th bullet middle phalanx shaped toe +HP:0100436 bone bullet middle pinkie shaped toe +HP:0100436 bone bullet middle pinky shaped toe +HP:0100436 bone bullet little middle shaped toe +HP:0008434 cervical hypoplasia vertebrae +HP:0008434 cervical hypoplastic vertebrae +HP:0008434 cervical underdeveloped vertebrae +HP:0005165 interval p r short +HP:0005165 interval pr shortened +HP:0005165 ekg interval on pr shortened +HP:0005165 electrocardiographic interval pr short +HP:0001265 decreased reflexes +HP:0001265 hyporeflexia +HP:0001265 decreased reflex response +HP:0100432 4th broad distal phalanx toe +HP:0100432 4th bone outermost toe wide +HP:0100432 4th bone broad outermost toe +HP:0100433 5th bone broad outermost toe +HP:0100433 bone little outermost toe wide +HP:0100433 bone outermost pinky toe wide +HP:0100433 5th broad distal phalanx toe +HP:0100433 bone outermost pinkie toe wide +HP:0100430 bone broad innermost pinky toe +HP:0100430 bone broad innermost pinkie toe +HP:0100430 5th broad phalanx proximal toe +HP:0100430 bone broad innermost little toe +HP:0100431 3rd broad distal phalanx toe +HP:0100431 3rd bone outermost toe wide +HP:0100431 3rd bone broad outermost toe +HP:0005574 acidotic non proximal tubulopathy +HP:0007260 cobblestone lissencephaly +HP:0007260 2 lissencephaly type +HP:0007260 ii lissencephaly type +HP:0000053 macroorchidism +HP:0000053 large testis +HP:0000053 large testicles +HP:0010228 absent epiphyses hand phalanges +HP:0010228 absent end fingers part +HP:0010228 absent epiphyses fingers +HP:0032005 hemidystonia +HP:0032004 pruritus vulvae +HP:0032007 maceration skin +HP:0032007 maceration +HP:0032006 lip tremor +HP:0032001 pink urine +HP:0032000 pleural rub +HP:0032003 green urine +HP:0032002 orange urine +HP:0000050 external genitalia male small +HP:0000050 genitalia male underdeveloped +HP:0000050 external genitalia hypoplastic male +HP:0000050 genitalia hypoplastic male +HP:0032009 constant exotropia infantile +HP:0032008 embolism fat pulmonary +HP:0032008 embolism fat +HP:0100797 dysplasia toenail +HP:0100797 abnormal development toenail +HP:0100797 dysplastic toenails +HP:0031589 ideation suicidal +HP:0011342 mild psychomotor retardation +HP:0011342 delay developmental global mild +HP:0031117 aortic bicuspid purely valve +HP:0100380 absent bone little outermost toe +HP:0100380 absent bone outermost pinkie toe +HP:0100380 absent bone outermost pinky toe +HP:0100380 5th aplasia distal phalanx toe +HP:0100381 absent middle phalanx third toe +HP:0100381 3rd absent bone middle toe +HP:0100381 3rd absent middle phalanx toe +HP:0100381 3rd aplasia middle phalanx toe +HP:0100382 4th aplasia middle phalanx toe +HP:0100382 4th absent bone middle toe +HP:0100383 5th aplasia middle phalanx toe +HP:0100383 absent bone middle pinky toe +HP:0100383 absent bone little middle toe +HP:0100383 absent bone middle pinkie toe +HP:0100384 3rd aplasia phalanx proximal toe +HP:0100384 3rd absent phalanx proximal toe +HP:0100384 3rd absent bone innermost toe +HP:0100385 4th aplasia phalanx proximal toe +HP:0100385 4th absent bone innermost toe +HP:0100386 absent bone innermost pinky toe +HP:0100386 absent bone innermost little toe +HP:0100386 absent bone innermost pinkie toe +HP:0100386 5th aplasia phalanx proximal toe +HP:0100387 absent bones middle toe +HP:0100387 aplasia middle phalanges toes +HP:0100388 aplasia phalanges proximal toes +HP:0100388 absent bones innermost toe +HP:0100389 3rd distal hypoplastic phalanx small toe +HP:0100389 distal phalanx short third toe +HP:0100389 3rd distal phalanx short toe +HP:0100389 3rd bone outermost short toe +HP:0007289 fasciculation limb +HP:0007289 fasciculations limb +HP:0025474 erythematous plaque +HP:0025474 plaque violaceous +HP:0025475 erythematous macule +HP:0025476 lipomatosis testicular +HP:0025477 calcification periarticular +HP:0012782 nephrogenic perilobar rest +HP:0025471 nevus panfollicular +HP:0025472 mycosis plantar recurrent +HP:0025473 hyperpigmented papule +HP:0010914 abnormality metabolism valine +HP:0025478 atrium silent +HP:0025478 atrial standstill +HP:0025479 neglect self +HP:0031749 abnormal lateral muscle physiology rectus +HP:0004222 bone cone end finger outermost part pinky shaped +HP:0004222 5th cone distal epiphysis finger phalanx shaped +HP:0004222 cone distal epiphysis finger little phalanx shaped +HP:0004222 bone cone end finger outermost part pinkie shaped +HP:0004222 bone cone end finger little outermost part shaped +HP:0005939 bilateral multiple pneumothoraces +HP:0005938 abnormal cilium morphology motile respiratory +HP:0004016 cupped metaphyses radial +HP:0005934 adduction cord imperfect vocal +HP:0005932 abnormal corticomedullary differentiation renal +HP:0005930 anomaly epiphyses +HP:0005930 abnormal bone end part shape +HP:0005930 abnormality epiphyseal +HP:0005930 abnormality epiphyses +HP:0005930 abnormality epiphysis morphology +HP:0006347 decreased milk teeth width +HP:0006347 decreased primary size tooth +HP:0006347 baby decreased teeth width +HP:0006347 decreased primary tooth width +HP:0006347 microdontia primary teeth +HP:0006347 deciduous microdontia teeth +HP:0006347 deciduous decreased teeth width +HP:0006347 deciduous small teeth +HP:0100610 blood high level mother phenylalanine +HP:0100610 hyperphenylalaninemia maternal +HP:0006346 front screwdriver shaped teeth +HP:0006346 incisors screwdriver shaped +HP:0004015 abnormality metaphyses radial +HP:0007862 calcification retinal +HP:0004358 abnormality metabolism superoxide +HP:0012513 limb pain upper +HP:0007866 infarction retinal +HP:0025372 loud snoring +HP:0025372 heavy snoring +HP:0025372 loudly snores +HP:0025372 has loud snoring +HP:0025372 have loud snoring +HP:0011768 dysgenesis parathyroid +HP:0008935 generalized low muscle neonate tone +HP:0008935 generalized hypotonia neonatal +HP:0007740 eyelashes irregular long rows +HP:0010329 3rd abnormality bone end part toe +HP:0010329 3rd abnormality epiphyses toe +HP:0004359 abnormal acids fatty +HP:0004359 abnormality acid fatty metabolism +HP:0007162 cerebral demyelination diffuse matter white +HP:0010203 absent bones innermost small toe +HP:0010203 aplasia hypoplasia phalanx proximal toe +HP:0010203 absent bones innermost toe underdeveloped +HP:0010203 aplasia hypoplasia phalanges proximal toes +HP:0010202 duplication middle phalanx toe +HP:0010202 complete duplication middle partial phalanges toes +HP:0010202 bones complete duplication middle partial toes +HP:0004012 epiphyseal fusion plates premature radial +HP:0012514 limb lower pain +HP:0012514 leg pain +HP:0009708 5th involving metacarpal synostosis +HP:0009708 5th bone fusion hand involving long +HP:0009709 alpha csf increased interferon +HP:0010141 distal enlarged epiphysis hallux phalanx +HP:0010141 big bone end enlarged outermost part toe +HP:0009704 chronic csf lymphocytosis +HP:0100339 abnormality naviculare os pedis +HP:0009706 3rd involving metacarpal synostosis +HP:0009706 3rd bone fusion hand involving long +HP:0011222 deficiency glabella +HP:0011222 flat glabella +HP:0011222 area between deficient eyebrows +HP:0011222 depressed glabella +HP:0011222 area between eyebrows flat +HP:0011222 concave glabella +HP:0011222 glabella hypoplasia +HP:0009700 finger symphalangism +HP:0009700 bones finger fused +HP:0009700 hand symphalangism +HP:0009700 bones fingers involving synostosis +HP:0009701 metacarpal synostosis +HP:0009701 bones involving metacarpal synostosis +HP:0009701 bones fused hand long +HP:0009702 carpal fusion +HP:0009702 bone carpal fusion +HP:0009702 carpal synostosis +HP:0009702 bones fused wrist +HP:0009702 bones carpal fused +HP:0009702 bones carpal involving synostosis +HP:0025192 hyperdensity matter periventricular subtentorial white +HP:0012568 cellulitis eyelid lower +HP:0012568 eyelid lower swelling +HP:0012568 eyelid lower puffiness +HP:0012568 edema eyelid lower +HP:0012568 eyelid fullness lower +HP:0012569 delayed first period start +HP:0012569 delayed menarche +HP:0012560 decreased ratio t3 t4 +HP:0012561 aortic unicuspid valve +HP:0012562 epimetaphyseal fusion hand premature +HP:0012563 epimetaphyseal foot fusion premature +HP:0012564 epimetaphyseal fusion premature tibia +HP:0012565 epimetaphyseal fibula fusion premature +HP:0012566 epimetaphyseal fusion premature radius +HP:0012567 epimetaphyseal fusion premature ulna +HP:0100212 bone end outermost part pinkie toe triangular +HP:0100212 bone end little outermost part toe triangular +HP:0100212 bone end outermost part pinky toe triangular +HP:0100212 5th distal epiphysis phalanx toe triangular +HP:0010200 affecting middle phalanges symphalangism toes +HP:0010200 bones fused middle toes +HP:0011223 depression frontal suture +HP:0011223 depression metopic +HP:0011223 cranial depression metopic suture +HP:0011223 cranial depression frontal suture +HP:0010147 distal epiphysis hallux phalanx stippling +HP:0010147 big bone calcifications end outermost part speckled toe +HP:0009443 3rd defects finger osteolytic phalanges +HP:0009443 defects finger lytic middle phalanges +HP:0009442 bones curved finger middle +HP:0009442 3rd curved finger phalanges +HP:0009441 3rd bullet finger phalanges shaped +HP:0009441 bones bullet finger middle shaped +HP:0009440 3rd broad finger phalanges +HP:0009440 bones finger middle wide +HP:0009440 broad finger middle phalanges wide +HP:0009447 finger middle phalanges short +HP:0009447 3rd aplasia finger hypoplasia phalanges +HP:0009447 finger hypoplastic middle phalanges +HP:0009447 finger middle phalanges small +HP:0009447 absent bone finger middle underdeveloped +HP:0009447 absent bone finger middle small +HP:0009446 bone finger middle shaped triangular +HP:0009446 3rd finger phalanges shaped triangular +HP:0009445 3rd finger symphalangism +HP:0009445 finger fused middle +HP:0009444 3rd finger patchy phalanx sclerosis +HP:0009444 finger middle patchy phalanges sclerosis +HP:0009444 3rd finger patchy phalanges sclerosis +HP:0009444 bone density finger increase middle uneven +HP:0001139 choroideremia +HP:0001138 neuropathy optic +HP:0001138 damaged nerve optic +HP:0011220 bulging forehead +HP:0011220 frontal prominence region +HP:0011220 forehead protruding +HP:0011220 forehead prominent +HP:0011220 forehead pronounced +HP:0001133 constricted field visual +HP:0001133 concentric field narrowing visual +HP:0001133 constriction field peripheral visual +HP:0001133 limited peripheral vision +HP:0001133 constricted fields visual +HP:0001133 constriction field visual +HP:0001132 lens subluxation +HP:0001132 dislocated lens partially +HP:0001131 corneal dystrophy +HP:0001137 alternating cross eyes +HP:0001137 alternating esotropia +HP:0001136 arterioles retinal tortuous +HP:0001136 arteriolar retinal tortuosity +HP:0001135 chorioretinal dystrophy +HP:0001134 anterior cataract polar +HP:0001421 abnormal hand muscles +HP:0001421 abnormality hand musculature +HP:0031071 abnormal endocrine morphology +HP:0010095 big bone duplication innermost partial toe +HP:0010095 duplication hallux partial phalanx proximal +HP:0100710 impulsivity +HP:0100710 impulsive +HP:0100948 distal phalanx sclerosis toe +HP:0100948 distal phalanges sclerosis toes +HP:0100948 bone density increased outermost toes +HP:0030380 b cells decreased proportion transitional +HP:0100946 phalanges proximal sclerosis toes +HP:0100946 bone density increased innermost toe +HP:0100946 phalanx proximal sclerosis toe +HP:0100947 middle phalanx sclerosis toe +HP:0100947 middle phalanges sclerosis toes +HP:0100947 bone density increased middle toe +HP:0100944 distal hallux phalanx sclerosis +HP:0100944 big bone density increased outermost toe +HP:0100945 1st metatarsal sclerosis +HP:0100945 1st bone density foot increased long +HP:0100942 5th distal phalanx sclerosis toe +HP:0100942 bone density increased outermost pinky toe +HP:0100942 bone density increased outermost pinkie toe +HP:0100942 bone density increased little outermost toe +HP:0100943 big bone density increased innermost toe +HP:0100943 hallux phalanx proximal sclerosis +HP:0100940 3rd bone density increased outermost toe +HP:0100940 3rd distal phalanx sclerosis toe +HP:0100941 4th distal phalanx sclerosis toe +HP:0100941 4th bone density increased outermost toe +HP:0031072 abnormal endocrine physiology +HP:0031074 abnormal acth response stimulation test to +HP:0031074 abnormal adrenocorticotropic hormone response stimulation test to +HP:0031074 abnormal corticotropin response stimulation test to +HP:0100717 abnormality cementum +HP:0030381 b cells increased proportion transitional +HP:0010320 3rd abnormality toe +HP:0001743 abnormality spleen +HP:0031078 corticotropin cortisol hormone impaired releasing response stimulation test to +HP:0012715 hearing impairment profound +HP:0100716 injury self +HP:0100716 behaviour injurious self +HP:0100716 behavior injurious self +HP:0100716 harm self +HP:0100716 autoagression +HP:0100716 behaviors injurious self +HP:0010321 4th abnormality toe +HP:0011696 a accessory free left manifest on pathway supraventricular tachycardia wall with +HP:0040318 red urine +HP:0040319 dark urine +HP:0040314 blind vagina +HP:0040315 edema tongue +HP:0040317 blue urine +HP:0040310 arthritis sterile +HP:0040311 arthritis distal symetrical +HP:0040312 arthritis joint temporomandibular +HP:0040312 arthritis temporomandibular +HP:0011224 ablepharon +HP:0011224 aplasia eyelids +HP:0011224 agenesis eyelids +HP:0011224 ablepharon eyelid +HP:0011224 absent eyelids +HP:0011224 eyelids missing +HP:0010899 abnormality acid amino aspartate family metabolism +HP:0010544 nystagmus vertical +HP:0010097 big bone notched outermost toe +HP:0010097 big bone duplication outermost partial toe +HP:0010097 bifid distal hallux phalanx +HP:0010097 distal duplication hallux partial phalanx +HP:0010546 twitching +HP:0010546 fibrillation muscle +HP:0010547 flaccidity muscle +HP:0010092 big bone innermost shaped toe triangular +HP:0010092 hallux phalanx proximal shaped triangular +HP:0010541 folds on scalp thickened top +HP:0010541 folds scalp +HP:0010541 cutis gyrata verticis +HP:0010541 scalp thickening +HP:0010541 cutis gyrata scalp +HP:0010541 furrows on scalp skin thickened top +HP:0010541 furrows scalp +HP:0010542 nystagmus vestibular +HP:0010091 big bone fused innermost toe +HP:0010091 affecting hallux phalanx proximal symphalangism +HP:0005700 bone changes cystic density increased with +HP:0000557 buphthalmos +HP:0000557 enlarged eyeball +HP:0000554 uveitis +HP:0000555 leukocoria +HP:0000555 leukokoria +HP:0000555 pupillary reflex white +HP:0010548 by induced muscle percussion swelling transient +HP:0010548 myotonia percussion +HP:0010549 due dysfunction motor neuron to upper weakness +HP:0010549 due lesions motor paralysis principle to tracts +HP:0010098 1st complete duplication metatarsal +HP:0010098 1st bone complete duplication foot long +HP:0005707 bilateral thumbs triphalangeal +HP:0005707 bilateral digitalized thumb +HP:0000943 dysostosis multiplex +HP:0004353 abnormality metabolism pyrimidine +HP:0010328 2nd affecting polydactyly toe +HP:0008677 nephrosis +HP:0008677 nephrotic syndrome +HP:0002953 compression vertebral +HP:0002953 bodies fractures vertebral +HP:0002953 compression fracture +HP:0002953 collapse vertebral +HP:0002953 body compression vertebral +HP:0002953 collapse compression or vertebral +HP:0002953 compression fractures vertebral +HP:0002955 granulomatosis +HP:0010898 abnormality metabolism sarcosine +HP:0007156 asymmetric limb muscle stiffness +HP:0002958 immune response unregulated +HP:0002958 dysregulation immune +HP:0002959 b impaired isotype lymphocyte switching +HP:0002959 class ig impaired recombination switch +HP:0010322 abnormality pinkie toe +HP:0010322 abnormality pinky toe +HP:0010322 abnormality little toe +HP:0010322 5th abnormality toe +HP:0004354 abnormality acid carboxylic metabolism +HP:0010324 2nd abnormality phalanx toe +HP:0010324 2nd abnormality bone toe +HP:0008675 enlarged ovaries polycystic +HP:0010326 2nd deviation toe +HP:0010326 2nd displacement toe +HP:0010327 2nd contractures joint toe +HP:0010327 2nd contracture flexion toe +HP:0031299 atrial elevated left pressure +HP:0031298 coronary dilatation sinus +HP:0031298 coronary enlarged sinus +HP:0031298 coronary enlargement sinus +HP:0003789 minicore myopathy +HP:0031291 follicularis ichthyosis +HP:0007153 disorder extrapyramidal movement progressive +HP:0031293 digital pitting scar +HP:0031292 abscess skin +HP:0031292 abscess cutaneous +HP:0031295 atrium enlarged heart left +HP:0031295 atrial enlargement left +HP:0031294 atrium hypoplastic right +HP:0031297 coronary sinus unroofed +HP:0008672 calcium oxalate urolithiasis +HP:0008672 calcium kidney oxalate stones +HP:0008672 nephrolithiasis oxalate +HP:0008672 calcium nephrolithiasis oxalate +HP:0003391 gowers sign +HP:0003391 gowers positive sign +HP:0003391 gower positive sign +HP:0003391 gower sign +HP:0003390 axonal neuropathy peripheral sensory +HP:0003390 axonal neuropathy sensory +HP:0003393 atrophy muscle thenar +HP:0003392 dorsal first interossei muscle weakness +HP:0009273 deviation finger ring +HP:0009273 4th deviation finger +HP:0003394 cramps muscle +HP:0003397 at defect due generalized hypotonia junction neuromuscular to +HP:0003396 syrinx +HP:0003396 syringomyelia +HP:0003396 cord cyst filled fluid spinal +HP:0004355 abnormality metabolism proteoglycan +HP:0100277 periauricular sinus +HP:0100277 fistulas periauricular +HP:0100277 around ear pits +HP:0100277 earpits periauricular +HP:0100277 periauricular pits +HP:0100277 periauricular pits skin +HP:0009994 bone duplication finger outermost partial pinkie +HP:0009994 bone finger notched outermost pinky +HP:0009994 5th bifid finger phalanx terminal +HP:0009994 bone duplication finger little outermost partial +HP:0009994 bone duplication finger outermost partial pinky +HP:0009994 5th distal duplication finger partial phalanx +HP:0100719 coloboma lens +HP:0003232 enzyme malic mitochondrial reduced +HP:0003232 decreased enzyme malic mitochondrial +HP:0011949 acute infectious pneumonia +HP:0011948 acute infection respiratory tract +HP:0025021 abnormal rate sedimentation westergren +HP:0025021 abnormal erythrocyte rate sedimentation +HP:0025021 abnormal esr +HP:0011943 increased thiosulfate urinary +HP:0011942 increased sulfite urinary +HP:0011941 anterior l2 wedging +HP:0008678 absent kidney underdeveloped +HP:0008678 agenesis hypoplasia renal +HP:0008678 absent kidney small +HP:0008678 aplasia hypoplasia renal +HP:0011947 infection respiratory +HP:0011947 infections respiratory +HP:0011947 infection respiratory tract +HP:0011946 bronchiolitis obliterans +HP:0011946 bronchiolitis constrictive +HP:0011946 bronchiolitis obliterative +HP:0011945 cryptogenic organizing pneumonia +HP:0011945 bronchiolitis obliterans organizing pneumonia +HP:0011944 small vasculitis vessel +HP:0006937 decreased distal sense touch +HP:0006937 decreased extremities sensation touch +HP:0006937 distal impaired sensation tactile +HP:0012029 abnormality hormone level urine +HP:0012028 adenoma hepatic +HP:0012028 adenoma cell liver +HP:0012028 adenoma hepatocellular +HP:0012025 abnormality metabolism ornithine +HP:0012024 galactosemia +HP:0012024 hypergalactosemia +HP:0012027 edema laryngeal +HP:0012026 blood high levels ornithine +HP:0012026 hyperornithinemia +HP:0012021 ductus patent persistent venosus +HP:0012020 aortic arch right sided +HP:0012020 aortic arch right +HP:0012023 galactosuria +HP:0012023 galactose increased level urinary +HP:0012022 portosystemic shunt venous +HP:0011059 area disease gum limited +HP:0011059 localized periodontitis +HP:0011059 disease gum localized +HP:0011059 disease localized periodontal +HP:0011058 generalized periodontitis +HP:0011058 disease generalized periodontal +HP:0011058 disease generalized gum +HP:0011058 disease gum widespread +HP:0011051 missing premolar +HP:0011051 bicuspid missing +HP:0011051 development failure premolar +HP:0011051 bicuspid development failure +HP:0011051 absence premolar +HP:0011051 agenesis bicuspid +HP:0011051 absence bicuspid +HP:0011051 agenesis premolar +HP:0011050 absence incisor lateral maxillary permanent +HP:0011050 agenesis incisor lateral permanent upper +HP:0011050 incisor lateral maxillary missing permanent +HP:0011050 incisor lateral missing permanent upper +HP:0011050 development failure incisor lateral permanent upper +HP:0011050 development failure incisor lateral maxillary permanent +HP:0011050 agenesis incisor lateral maxillary permanent +HP:0011053 agenesis mandibular premolar +HP:0011053 lower missing premolar +HP:0011053 absence mandibular premolar +HP:0011053 mandibular missing premolar +HP:0011053 development failure mandibular premolar +HP:0011053 absence lower premolar +HP:0011052 development failure maxillary premolar +HP:0011052 absence maxillary premolar +HP:0011052 absence bicuspid maxillary +HP:0011052 agenesis maxillary premolar +HP:0011052 missing premolar upper +HP:0011052 agenesis bicuspid maxillary +HP:0011052 bicuspid missing upper +HP:0011052 bicuspid development failure maxillary +HP:0011052 absence premolar upper +HP:0011052 maxillary missing premolar +HP:0011055 adult missing molar +HP:0011055 missing molar permanent +HP:0011055 absence molar permanent +HP:0011055 development failure molar secondary +HP:0011055 absence adult molar +HP:0011055 development failure molar permanent +HP:0011055 agenesis molar permanent +HP:0011055 agenesis molar secondary +HP:0011054 missing molar +HP:0011054 development failure molar +HP:0011054 absent molars +HP:0011054 agenesis molar +HP:0011054 absence molar +HP:0011057 absence molar permanent second +HP:0011057 development failure molar twelve year +HP:0011057 missing molar permanent second +HP:0011057 missing molar twelve year +HP:0011057 development failure molar permanent second +HP:0011057 absence molar twelve year +HP:0011057 agenesis molar twelve year +HP:0011057 agenesis molar permanent second +HP:0011056 development failure molar six year +HP:0011056 first missing molar permanent +HP:0011056 absence first molar permanent +HP:0011056 agenesis first molar permanent tooth +HP:0011056 absence molar six year +HP:0011056 agenesis molar six year +HP:0011056 development failure first molar permanent +HP:0011056 missing molar six year +HP:0009939 agnathia +HP:0009939 aplasia mandibular +HP:0009939 development failure jaw lower +HP:0009939 development failure mandible +HP:0009939 absence bones jaw lower +HP:0009939 absent mandible +HP:0009939 absence jaw lower +HP:0009939 agenesis mandible +HP:0009939 aplasia bone jaw lower +HP:0009939 absence mandible +HP:0009939 jaw lower missing +HP:0009939 absence bone jaw lower +HP:0009938 cheeks hollow +HP:0009938 cheeks depressed +HP:0009938 cheeks sunken +HP:0009933 nares narrow +HP:0009933 naris narrow +HP:0009933 narrow nostrils +HP:0009933 like naris slit +HP:0009933 nares thin +HP:0009933 nostrils small +HP:0009933 collapsed nostrils +HP:0009933 nostrils thin +HP:0009933 like nostrils slit +HP:0009932 nostril single +HP:0009932 nostril one +HP:0009932 nare single +HP:0009932 mono nostril +HP:0009932 naris single +HP:0009931 broad nostril +HP:0009931 diameter increased nostril +HP:0009931 dilated nares +HP:0009931 nares wide +HP:0009931 enlarged nostril +HP:0009931 broad naris +HP:0009931 dilated nostril +HP:0009931 nostril wide +HP:0009931 diameter increased nares +HP:0009931 enlarged nares +HP:0009931 large nares +HP:0009931 increased nares width +HP:0009931 enlarged naris +HP:0009930 asymmetry nares +HP:0009930 nostril size unequal +HP:0009930 asymmetry nostrils +HP:0009930 nostril shape uneven +HP:0009930 nostril shape unequal +HP:0009930 crooked nostrils +HP:0009930 nostril size uneven +HP:0009937 excessive face hair +HP:0009937 facial hirsutism +HP:0009936 decreased nasal septum width +HP:0009936 narrow nose septum +HP:0009936 narrow nasal septum +HP:0009936 nose septum thin +HP:0009936 nasal septum thin +HP:0009935 aplasia hypoplasia nasal septum +HP:0009935 development failure nasal septum +HP:0009935 nasal septum underdevelopment +HP:0009935 ageneis nasal septum +HP:0009934 naris supernumerary +HP:0009934 accessory nares +HP:0009934 accessory nostril +HP:0009934 nares supernumerary +HP:0009934 extra nostril +HP:0009934 nostrils supernumerary +HP:0002046 fevers heat intolerance to +HP:0002046 heat intolerance +HP:0002047 anesthesia hyperthermia malignant with +HP:0002047 hyperthermia malignant +HP:0002044 ellison syndrome zollinger +HP:0002045 abnormally body low temperature +HP:0002045 hypothermia +HP:0002043 esophageal stricture +HP:0002040 esophageal varices +HP:0002040 esophageal varix +HP:0002041 diarrhea intractable +HP:0410276 raphe supraumbilical +HP:0410276 midline raphe supraumbilical +HP:0410277 pit sternal +HP:0410274 hemangioma paraspinal +HP:0410275 hemangioma lumbosacral +HP:0410275 hemangioma lumbar sacral +HP:0410272 hemangioma vulvar +HP:0030064 neurocytoma +HP:0002048 atrophy cortical renal +HP:0002049 acidosis proximal renal tubular +HP:0002049 acidosis ii renal tubular type +HP:0002049 acidosis proximal tubular +HP:0012797 lymphatic tumor vessel +HP:0012797 lymphatic neoplasm vessel +HP:0012796 cup disc increased ratio to +HP:0012796 cup disc elevated ratio to +HP:0012796 cup disc increased ratio +HP:0012795 abnormality disc optic +HP:0012813 breast hypoplasia unilateral +HP:0012813 breast one underdeveloped +HP:0012793 brainstem kinked +HP:0012793 brain kinked stem +HP:0012792 absent bodies ossification thoracic vertebral +HP:0012791 abnormal humeral ossification +HP:0012791 abnormal arm bone long maturation upper +HP:0005602 progressive vitiligo +HP:0007676 hypoplasia iris +HP:0007676 hypoplastic iris +HP:0007676 iris underdeveloped +HP:0004943 accelerated atherosclerosis +HP:0004943 accelerated arteries build plaque up +HP:0007675 blindness night progressive +HP:0012799 facial muscle paralysis unilateral +HP:0012799 facial palsy unilateral +HP:0012799 facial unilateral weakness +HP:0012799 facial muscle unilateral weakness +HP:0012799 face one paralysis side +HP:0012799 facial paralysis unilateral +HP:0012799 face one side weakness +HP:0012798 lymphangiomyomatosis pulmonary +HP:0012798 myomatosis pulmonary +HP:0012798 lymphangioleiomyomatosis +HP:0040313 oligoarthritis +HP:0001401 biliary dysgenesis intrahepatic +HP:0009055 atrophy generalized limb muscle +HP:0009055 atrophy distal generalized muscle proximal +HP:0009055 generalized muscle wasting +HP:0001631 atria defect septal +HP:0001631 atrial defect septal +HP:0001631 chambers heart hole separating two upper wall +HP:0001631 atrial defect septum +HP:0001631 an chambers heart opening separating top two wall +HP:0001633 abnormal mitral morphology valve +HP:0001633 abnormality mitral valve +HP:0001634 mitral prolapse valve +HP:0001635 congestive failure heart +HP:0001635 cardiac failure +HP:0001635 cardiac failures +HP:0001635 chronic failure heart +HP:0001635 cardiac insufficiency +HP:0001635 failure heart +HP:0001636 fallot tetralogy +HP:0001636 fallot tetrology +HP:0002322 resting tremor +HP:0002322 rest tremor +HP:0002322 parkinsonian tremor +HP:0002322 at rest tremor +HP:0030670 hamartoma orbital region +HP:0030671 abnormal common morphology ring tendinous +HP:0030671 abnormality common ring tendinous +HP:0030672 asteroid hyalosis +HP:0030673 erosive vitreoretinopathy +HP:0030675 2nd 5th contracture fingers interphalangeal joints proximal +HP:0030676 devil ear +HP:0030676 ear satyr +HP:0030677 ear mozart +HP:0007490 areas arrays flexural hyperkeratoses linear macular +HP:0007497 focal friction hyperkeratosis palmoplantar related +HP:0100179 4th bone end outermost part toe triangular +HP:0100179 4th distal epiphysis phalanx toe triangular +HP:0007495 appearance precociously senile +HP:0007495 aged appearance prematurely +HP:0100177 4th distal epiphysis phalanx small toe +HP:0100177 4th bone end outermost part small toe +HP:0100176 4th distal phalanx pseudoepiphysis toe +HP:0100175 4th bone density end increased outermost part toe +HP:0100175 4th distal epiphysis ivory phalanx toe +HP:0007499 infections recurrent staphylococcal +HP:0100173 4th distal epiphysis fragmentation phalanx toe +HP:0100173 4th bone end fragmentation outermost part toe +HP:0100172 4th bone end enlarged outermost part toe +HP:0100172 4th distal enlarged epiphysis phalanx toe +HP:0100171 4th bone cone end outermost part shaped toe +HP:0100171 4th cone distal epiphysis phalanx shaped toe +HP:0100170 4th bracket distal epiphysis phalanx toe +HP:0100170 4th bone bracket end outermost part shaped toe +HP:0025311 anterior chamber cyst +HP:0025310 oval pupil +HP:0025313 exophoria +HP:0025312 esophoria +HP:0025314 choroidal nevus +HP:0025317 cubitus varus +HP:0025319 iris neovascularization +HP:0025319 iridis rubeosis +HP:0025318 carcinoma ovarian +HP:0025318 cancer epithelial ovarian +HP:0410229 anti antibody gluten ige increased level +HP:0030442 anal carcinoma cell margin squamous +HP:0010090 hallux patchy phalanx proximal sclerosis +HP:0010090 big bone density increase innermost toe uneven +HP:0030717 meconium peritonitis +HP:0030716 acrania +HP:0030715 atresia bronchial +HP:0030714 breus mole +HP:0030714 subchorionic thrombohematoma +HP:0030713 arteriovenous fistula median prosencephalic +HP:0030713 aneurysm galen vein +HP:0030713 aneurysmal galen malformation vein +HP:0030713 galen malformation vein +HP:0030712 synechiae uterine +HP:0030712 asherman syndrome +HP:0030711 hydrocolpos +HP:0030710 lipomeningocele +HP:0100893 prominent xiphisternum +HP:0100893 process prominent xiphoid +HP:0030719 orifice tricuspid unguarded valve +HP:0030719 tricuspid unguarded valve +HP:0030719 leaflets rudimentary tricuspid valve +HP:0030718 atrium dilated right +HP:0030718 atrial enlargement right +HP:0030718 atrium enlarged heart right +HP:0030718 atrial dilatation right +HP:0004330 calcification increased skull +HP:0004330 increased ossification skull +HP:0004330 hyperossification skull +HP:0004330 bones sclerosis skull +HP:0004330 increased mineralization skull +HP:0004330 sclerosis skull +HP:0004330 hyperostosis skull +HP:0010096 complete distal duplication hallux phalanx +HP:0010096 big bone complete duplication outermost toe +HP:0006740 bladder carcinoma cell transitional +HP:0002123 myoclonus seizures +HP:0002123 epilepsy myoclonic progressive +HP:0002123 generalized myoclonic seizures +HP:0002123 myoclonic seizures +HP:0005709 2 3 cutaneous syndactyly toe +HP:0005709 2nd 3rd skin toes webbed +HP:0005258 absent muscle pec small +HP:0005258 aplasia hypoplasia muscle pectoral +HP:0005258 absent muscle pec underdeveloped +HP:0005259 abnormal facility opposing shoulders +HP:0006818 classic lissencephaly +HP:0006818 1 lissencephaly type +HP:0006818 i lissencephaly type +HP:0010540 advanced cranial pneumatization sinuses +HP:0006817 aplastic hypo vermis +HP:0006817 aplasia cerebellar hypoplasia vermis +HP:0006817 aplasia cerebellar hypoplasia or vermis +HP:0030448 sarcomas soft tissue +HP:0030448 sarcoma soft tissue +HP:0006813 hemiclonic seizures +HP:0006813 clonic seizures unilateral +HP:0010093 duplication hallux phalanx proximal +HP:0010093 big bone duplication innermost toe +HP:0006743 embryonal rhabdomyosarcoma +HP:0001098 abnormal fundus morphology +HP:0001098 abnormality fundus +HP:0000558 anomaly rieger +HP:0001094 iridocyclitis +HP:0001095 hypertensive retinopathy +HP:0012774 increased lower ratio segment to upper +HP:0000559 corneal scarring +HP:0001090 eyeballs large +HP:0001090 eyes large +HP:0001090 megalophthalmos +HP:0001090 fissures large palpebral +HP:0001090 abnormally globe large +HP:0001090 eyes increased size +HP:0001090 fissures increased palpebral size +HP:0012457 arteries calcification medial medium sized +HP:0001092 absent gland lacrimal puncta +HP:0001092 aplasia lacrimal puncta +HP:0001092 absent lacrimal punctum +HP:0001092 absent lacrimal openings +HP:0001092 absent lacrimal puncta +HP:0001092 agenesis lacrimal punctum +HP:0001092 absence lacrimal punctum +HP:0001093 dysplasia nerve optic +HP:0000556 back breakdown cells eye light sensitive +HP:0000556 dystrophy retinal +HP:0005253 anterioposterior diameter increased thorax +HP:0005253 anterioposterior chest diameter increased +HP:0005250 high intestinal obstruction +HP:0000941 diaphyses short +HP:0000941 bone long shaft short +HP:0031108 triceps weakness +HP:0008676 megaloureter +HP:0008676 megaureter +HP:0005134 absence pulmonary valve +HP:0005134 absent pulmonary valve +HP:0005133 dilatation right ventricular +HP:0005133 dilated heart right ventricle +HP:0000944 abnormality metaphysis +HP:0000944 a abnormality bone long portion wide +HP:0000947 bone dumbbell long shaped +HP:0000947 bone dumbbell long metaphyses widening +HP:0000946 girdle pelvic small wings +HP:0000946 hypoplastic ilia +HP:0000946 bones iliac small +HP:0000946 bones iliac short small +HP:0031101 abnormal antimullerian hormone level +HP:0031100 b decreased inhibin level +HP:0031103 amh decreased plasma +HP:0031103 antimullerian decreased hormone level +HP:0004924 abnormal glucose oral test tolerance +HP:0004924 abnormal glucose oral tolerance +HP:0031105 abnormal morphology uterus +HP:0031104 antibody insulin positivity receptor +HP:0031107 fibula thin +HP:0031107 decreased diameter fibular +HP:0031106 shaped t uterus +HP:0006723 carcinoid intestinal +HP:0006722 carcinoid intestine small +HP:0006721 acute leukemia lymphoblastic +HP:0006721 acute leukemia lymphocytic +HP:0006721 acute leukemia lymphatic +HP:0006721 acute leukemia lymphoid +HP:0410158 increased level o phosphoethanolamine urine +HP:0410158 alpl increased level urine +HP:0006727 acute cell leukemias lymphoblastic t +HP:0000550 erg undetectable +HP:0000550 electroretinogram evoked light no on response +HP:0000550 electroretinogram undetectable +HP:0000550 electroretinogram extinguished +HP:0000550 absent electroretinogram +HP:0000550 electroretinogram extinction +HP:0000550 abolished electroretinogram +HP:0006725 adenocarcinoma pancreatic +HP:0002107 collapsed lung +HP:0002107 pneumothorax +HP:0004337 abnormal acid amino levels +HP:0004337 abnormality acid amino metabolism +HP:0010099 1st bone duplication foot long partial +HP:0010099 1st duplication metatarsal partial +HP:0001894 thrombocythemia +HP:0001894 thrombocytosis +HP:0001894 count increased platelet +HP:0001894 thrombocythaemia +HP:0001894 blood increased number platelets +HP:0001895 anemia normochromic +HP:0001896 reticulocytopenia +HP:0001897 anemia normocytic +HP:0001890 anaemia autoimmune haemolytic +HP:0001890 anemia autoimmune hemolytic +HP:0001891 anemia deficiency iron +HP:0001891 ferropenic +HP:0001892 bleeding diathesis +HP:0001892 diathesis hemorrhagic +HP:0001892 abnormal bleeding +HP:0001892 bleeding tendency +HP:0002104 apnea +HP:0002104 apneic episodes +HP:0002104 apnoea +HP:0002104 absence respiration spontaneous +HP:0001898 blood cell increased mass red +HP:0001899 hematocrit increased +HP:0010157 1st bone end foot long part small +HP:0010157 1st epiphysis metatarsal small +HP:0010156 1st metatarsal pseudoepiphysis +HP:0010155 1st bone density end foot increased long part +HP:0010155 1st epiphysis ivory metatarsal +HP:0010154 1st bone end foot irregular long part +HP:0010154 1st epiphysis irregular metatarsal +HP:0010153 1st bone end foot fragmentation long part +HP:0010153 1st epiphysis fragmentation metatarsal +HP:0010152 1st bone end enlarged foot long part +HP:0010152 1st enlarged epiphysis metatarsal +HP:0010151 1st cone epiphysis metatarsal shaped +HP:0010151 1st bone cone end foot long part shaped +HP:0010150 1st bracket epiphysis metatarsal +HP:0010150 1st bone bracket end foot long part shaped +HP:0005390 infections opportunistic recurrent +HP:0005390 frequent infections opportunistic +HP:0005396 229e coronavirus susceptibility to +HP:0010159 1st bone end foot long part triangular +HP:0010159 1st epiphysis metatarsal triangular +HP:0010158 1st epiphysis metatarsal stippling +HP:0010158 1st bone calcifications end foot long part speckled +HP:0031044 a5 brachydactyly type +HP:0001696 inversus situs +HP:0001696 inversus situs totalis +HP:0001696 all body on organs side wrong +HP:0001696 situs transversus +HP:0001696 oppositus situs +HP:0031046 agenesis palate soft +HP:0031046 absent palate soft +HP:0031047 paraproteinemia +HP:0031047 hypergammaglobulinemia monoclonal +HP:0031040 arrest at maturation spermatid spermatogenesis stage +HP:0031040 arrest late maturation spermatogenesis +HP:0031041 cava superior syndrome vena +HP:0031041 cava obstruction superior vena +HP:0031042 strawberry tongue +HP:0031042 raspberry tongue +HP:0001697 abnormality pericardium +HP:0001697 abnormal morphology pericardium +HP:0009818 amelia involving limbs lower +HP:0031048 chain light paraproteinemia +HP:0031049 chain heavy paraproteinemia +HP:0009819 limb lower phocomelia +HP:0040129 abnormalities conduction nerve +HP:0040129 abnormal conduction nerve velocities +HP:0040129 abnormal conduction nerve velocity +HP:0040129 abnormal conduction nerve +HP:0001695 beating heart stops +HP:0001695 arrest cardiac +HP:0040123 impairment muscle reflex tensor tympanii +HP:0040122 acoustic impairment reflex +HP:0040121 abnormality acoustic reflex +HP:0040121 abnormal auditory reflex +HP:0040121 abnormal ear mem middle muscles reflex +HP:0040121 abnormality reflex stapedial +HP:0040120 abnormality muscle reflex tensor tympanii +HP:0040127 abnormal homeostasis sweat +HP:0040126 abnormal cobalamin level serum +HP:0040126 abnormal b12 level vitamin +HP:0001341 absence lobe olfactory +HP:0001341 agenesis lobe olfactory +HP:0031485 periosteal reaction +HP:0031485 bone formation subperiosteal +HP:0007559 epidermolytic hyperkeratosis localized +HP:0012809 base decreased nasal width +HP:0012809 base narrow nose +HP:0012809 base narrow nasal +HP:0012809 base decreased nose width +HP:0012809 base nasal thin +HP:0012809 base nose thin +HP:0012808 base malformation nose +HP:0012808 abnormal base nasal +HP:0012808 anomaly base nose +HP:0012808 base malformation nasal +HP:0012808 anomaly base nasal +HP:0012808 base deformity nasal +HP:0012808 base deformity nose +HP:0012808 abnormality base nose +HP:0012807 columella high insertion +HP:0012807 ala columella lower than +HP:0012806 proboscis +HP:0012805 defect iris transillumination +HP:0012804 corneal ulceration +HP:0012804 corneal ulcer +HP:0012803 anisometropia +HP:0012802 mandible wide +HP:0012802 broad mandible +HP:0012802 broad jaw +HP:0012802 broad face lower +HP:0012802 jaw wide +HP:0012801 face lower thin +HP:0012801 mandible narrow +HP:0012801 jaw narrow +HP:0012801 jaw lower thin +HP:0012801 face lower narrow +HP:0012801 jaw lower narrow +HP:0012800 accessory fontanelle +HP:0012800 cranial extra suture +HP:0012800 extra fontanelle +HP:0012800 fontanelle supernumary +HP:0012800 accessory cranial suture +HP:0012800 cranial supernumary suture +HP:0100883 chorangioma +HP:0100882 fibrous hamartoma infancy +HP:0100882 fibrous hamartoma +HP:0100881 mesoblastic nephroma +HP:0100880 nephrogenic rest +HP:0100887 difference eye size +HP:0100887 abnormality globe size +HP:0100887 abnormality eyeball size +HP:0100886 abnormality eyeball position +HP:0100886 abnormality globe location +HP:0100886 abnormality eyeball location +HP:0100886 abnormality globe position +HP:0002270 abnormality autonomic nervous system +HP:0100884 compensatory scoliosis +HP:0011692 a accessory concealed free on pathway right supraventricular tachycardia wall with +HP:0100889 abnormality bile common duct +HP:0100889 abnormality choledochus ductus +HP:0100888 interdigital loops +HP:0000142 abnormal morphology vagina +HP:0000142 malformation vaginal +HP:0003944 elbow joint narrow spaces +HP:0003945 articular elbow irregular joints surfaces +HP:0003946 abnormality bone elbow end part +HP:0003946 abnormality elbow epiphyses +HP:0003947 delayed elbow epiphyseal ossification +HP:0003947 bone delayed elbow end maturation part +HP:0003940 elbow osteoarthritis +HP:0003941 calcification elbow stippled +HP:0003942 chondromatosis elbow synovial +HP:0012679 distance interpedicular widened +HP:0003948 elbow epiphyses irregular +HP:0003948 bone elbow end irregular part +HP:0003949 abnormality elbow metaphyses +HP:0003949 abnormal bone elbow portion wide +HP:0007550 excessive lack or sweating +HP:0007550 hyperhidrosis hypohidrosis or +HP:0200138 atresia bilateral choanal stenosis +HP:0008288 hyperglycinemia nonketotic +HP:0000765 abnormality thorax +HP:0000765 abnormality chest +HP:0000764 axonal degeneration peripheral +HP:0000767 chest funnel +HP:0000767 excavatum pectus +HP:0000766 deformities pectus +HP:0000766 anomalies sternal +HP:0000766 carinatum excavatum pectus +HP:0000766 carinatum excavatum or pectus +HP:0000766 abnormality sternum +HP:0000766 deformity pectus +HP:0000763 neuropathy sensory +HP:0000763 neuropathy peripheral sensory +HP:0000763 damage feeling nerves sense that to +HP:0000762 conduction decreased nerve velocities +HP:0000762 conduction delayed nerve velocity +HP:0000762 conduction nerve slow velocity +HP:0000762 conduction nerve reduced velocities +HP:0000762 decreased ncv +HP:0000762 conduction decreased nerve velocity +HP:0000762 conduction nerve slowed velocities +HP:0008572 ear external malformation +HP:0008573 frequency hearing impairment low sensorineural +HP:0008573 frequency hearing loss low sensorineural +HP:0000769 abnormality breast +HP:0000768 chest pigeon +HP:0000768 carinatum pectus +HP:0008577 folded helices poorly +HP:0008577 helix underfolded +HP:0100775 dural ectasia +HP:0100774 bone hypertrophy +HP:0100774 bone overgrowth +HP:0100774 hyperostosis +HP:0011206 1 activity eeg generalized grade slow with +HP:0100776 recurrent sore throat +HP:0100776 pharyngitis recurrent +HP:0100771 hypoperistalsis +HP:0100771 hypoperistalsis intestinal +HP:0100770 churning stomach +HP:0100770 hyperperistalsis +HP:0100773 cartilage destruction +HP:0011203 abnormally eeg frequencies slow with +HP:0009160 absent bone end finger innermost part pinkie +HP:0009160 absent bone end finger innermost part pinky +HP:0009160 5th absent epiphysis finger phalanx proximal +HP:0009160 absent bone end finger innermost little part +HP:0009161 absent bone finger middle pinky small +HP:0009161 absent bone finger middle pinky underdeveloped +HP:0009161 absent bone finger middle pinkie underdeveloped +HP:0009161 5th aplasia finger hypoplasia middle phalanx +HP:0009161 5th absent finger hypoplastic middle phalanx +HP:0009161 absent bone finger little middle underdeveloped +HP:0009162 5th absent finger middle phalanx +HP:0009162 absent bone finger middle pinkie +HP:0009162 absent bone finger middle pinky +HP:0009162 absent bone finger little middle +HP:0009162 5th aplasia finger middle phalanx +HP:0004443 craniosynostosis lambdoidal +HP:0004443 craniosynostosis lambdoid suture +HP:0004443 lambdoid suture synostosis +HP:0100779 anomaly sinus urogenital +HP:0100778 cryoglobulinemia +HP:0100778 complexes cryoprecipitable immune +HP:0009166 bone end finger fragmentation outermost part pinky +HP:0009166 bone end finger fragmentation little outermost part +HP:0009166 5th distal epiphysis finger fragmentation phalanx +HP:0009166 bone end finger fragmentation outermost part pinkie +HP:0009167 bone end finger irregular little outermost part +HP:0009167 bone end finger irregular outermost part pinkie +HP:0009167 bone end finger irregular outermost part pinky +HP:0009167 5th distal epiphysis finger irregular phalanx +HP:0007086 deterioration occupational social +HP:0100707 abnormality astrocytes +HP:0007081 dystrophy late muscular onset +HP:0007885 horizontal saccades slowed +HP:0011231 eyelashes prominent +HP:0011231 eyelashes thick +HP:0007083 knee overactive reflex +HP:0007083 brisk jerk knee +HP:0007083 hyperactive patellar reflex +HP:0007083 hyperreflexia knees +HP:0008544 abnormally folded helix +HP:0005199 abdominal aplasia musculature wall +HP:0005199 abdominal absent musculature +HP:0006508 abnormality epiphyses tibial +HP:0006508 abnormality end part shinbone +HP:0007082 dilated third ventricle +HP:0100764 lymphangioma +HP:0005198 interphalangeal joints stiff +HP:0005198 hinge joints stiff +HP:0100410 complete duplication middle phalanx third toe +HP:0100410 3rd bone complete duplication middle toe +HP:0100410 3rd complete duplication middle phalanx toe +HP:0100411 4th complete duplication middle phalanx toe +HP:0100411 4th bone complete duplication middle toe +HP:0100411 complete duplication fourth middle phalanx toe +HP:0100412 5th complete duplication middle phalanx toe +HP:0100412 bone complete duplication middle pinkie toe +HP:0100412 bone complete duplication middle pinky toe +HP:0100412 complete duplication fifth middle phalanx toe +HP:0100412 bone complete duplication little middle toe +HP:0011232 dennie fold morgan +HP:0011232 fold infra orbital +HP:0011232 fold infraorbital +HP:0100414 4th complete duplication phalanx proximal toe +HP:0100414 4th bone complete duplication innermost toe +HP:0100415 bone complete duplication innermost little toe +HP:0100415 complete duplication fifth phalanx proximal toe +HP:0100415 5th complete duplication phalanx proximal toe +HP:0100415 bone complete duplication innermost pinky toe +HP:0100415 bone complete duplication innermost pinkie toe +HP:0100416 distal duplication partial phalanx third toe +HP:0100416 3rd distal duplication partial phalanx toe +HP:0100416 3rd bone duplication outermost partial toe +HP:0008410 fragments hyperkeratotic subungual +HP:0100418 bone duplication outermost partial pinky toe +HP:0100418 bone duplication fifth outermost partial toe +HP:0100418 5th distal duplication partial phalanx toe +HP:0100418 bone duplication outermost partial pinkie toe +HP:0100418 bone duplication little outermost partial toe +HP:0100418 distal duplication fifth partial phalanx toe +HP:0011543 atrioventricular criss cross inferior superior valves ventricles without +HP:0008419 degenerative disk intervertebral +HP:0008419 degeneration disks intervertebral +HP:0008419 degeneration disc intervertebral +HP:0008419 degenerative disc disease +HP:0011234 absent antihelix +HP:0410139 anaphylaxis exercise induced +HP:0011237 antihelix broad crus inferior +HP:0032029 eyelid floppy +HP:0032028 dots macular +HP:0032027 dots retinal +HP:0032026 anetoderma +HP:0032025 1 alpha antitrypsin reduced serum +HP:0011540 arteries congenitally corrected great transposition +HP:0011540 l transposition +HP:0011540 inversion ventricular +HP:0032023 eosinophilic gallbladder infiltration +HP:0032023 cholecystitis eosinophilic +HP:0032022 dermal eosinophilic infiltration +HP:0032022 dermatitis eosinophilic +HP:0032021 eosinophilic infiltration liver +HP:0032021 eosinophilic hepatitis +HP:0032020 cystitis eosinophilic +HP:0032020 bladder eosinophilic infiltration +HP:0004383 heart hypoplasia left ventricle +HP:0004383 hypoplasia left ventricular +HP:0004383 heart left underdeveloped +HP:0004383 heart hypoplastic left +HP:0002549 deficit memory phonologic short term +HP:0002548 dopaminergic favorable medication parkinsonism response to with +HP:0002548 favorable levodopa response to +HP:0004382 calcification mitral valve +HP:0002542 degeneration olivopontocerebellar +HP:0002542 atrophy olivopontocerebellar +HP:0002540 inability to walk +HP:0002540 ambulatory non +HP:0002546 incomprehensible speech +HP:0002545 demyelination matter patchy subcortical white +HP:0002544 retrocollis +HP:0410138 urticaria vibratory +HP:0030086 csf lactate reduced +HP:0030085 abnormal csf lactate level +HP:0010323 2nd abnormality epiphyses toe +HP:0010323 2nd abnormality bone end part toe +HP:0030083 craving salt +HP:0009508 bone density end finger increased index outermost part +HP:0009508 2nd distal epiphysis finger ivory phalanx +HP:0009508 epiphysis finger index ivory phalanx terminal +HP:0030081 foci hyperintense periventricular punctate t2 +HP:0030080 burkitt lymphoma +HP:0010892 abnormality acid amino branched chain family metabolism +HP:0030089 abnormal expression fiber muscle protein +HP:0010325 2nd absent small toe +HP:0010325 2nd absent toe underdeveloped +HP:0010325 2nd aplasia hypoplasia toe +HP:0009506 2nd distal epiphysis finger fragmentation phalanx +HP:0009506 bone end finger fragmentation index outermost part +HP:0003238 hyperpepsinogenemia i +HP:0003239 phosphoethanolaminuria +HP:0003239 high levels phosphoethanolamine urine +HP:0100768 choriocarcinoma +HP:0025418 cortical necrosis renal +HP:0025418 cortex kidney necrosis +HP:0009507 bone end finger index irregular outermost part +HP:0009507 2nd distal epiphysis finger irregular phalanx +HP:0025416 stricture vaginal +HP:0003233 cholesterol hdl low +HP:0003233 hypoalphalipoproteinemia +HP:0003233 circulating decreased density high levels lipoprotein +HP:0003233 cholesterol concentration decreased hdl +HP:0003233 cholesterol circulating decreased density high lipoprotein +HP:0003233 cholesterol decreased hdl +HP:0025414 pendulous stricture urethral +HP:0004384 1 arteriosus truncus type +HP:0004384 arteriosus i truncus type +HP:0004384 arteriosus i persistent truncus type +HP:0003236 cpk increased +HP:0003236 creatine elevated kinase +HP:0003236 creatine high kinase serum +HP:0003236 creatine increased kinase +HP:0003236 ck increased serum +HP:0003236 creatine increased phosphokinase serum +HP:0003236 blood creatine elevated phosphokinase +HP:0003236 cpk elevated serum +HP:0003236 creatine elevated phosphokinase serum +HP:0003236 creatine increased phosphokinase +HP:0003236 circulating creatine elevated phosphokinase +HP:0003236 creatine elevated kinase serum +HP:0003236 creatine increased kinase serum +HP:0003237 igg increased levels +HP:0003237 blood igg increased total +HP:0003237 igg increased level +HP:0003234 carnitine decreased plasma +HP:0003234 carnitine deficiency +HP:0003235 methioninemia +HP:0003235 hypermethioninemia +HP:0003235 blood increased methionine +HP:0009505 2nd distal enlarged epiphysis finger phalanx +HP:0009505 bone end enlarged finger index outermost part +HP:0009154 bone end finger innermost little part triangular +HP:0009154 5th epiphysis finger phalanx proximal triangular +HP:0009154 bone end finger innermost part pinky triangular +HP:0009154 bone end finger innermost part pinkie triangular +HP:0009154 5th delta epiphysis finger phalanx proximal shaped +HP:0009502 absent bone end finger index outermost part +HP:0009502 absent epiphysis finger index ossification phalanx terminal +HP:0009502 2nd absent distal epiphysis finger phalanx +HP:0009503 2nd bracket distal epiphysis finger phalanx +HP:0009503 bone bracket end finger index outermost part shaped +HP:0009500 2nd abnormality epiphysis finger middle phalanx +HP:0009500 2nd abnormality epiphyseal finger middle phalanx +HP:0009500 abnormality bone end finger index middle part +HP:0002729 follicular hyperplasia +HP:0002728 candidiasis chronic mucocutaneous +HP:0002728 candidiasis mucocutaneous +HP:0002728 candidiasis chronic mucosa nails skin +HP:0002726 aureus infections recurrent staphylococcus +HP:0002725 erythematosus lupus systemic +HP:0004821 hypermature neutrophils +HP:0004821 hypersegmentation neutrophil nuclei +HP:0002723 absence bactericidal burst oxidative phagocytes respiratory +HP:0002722 abscess formation recurrent +HP:0002721 deficiency immune +HP:0002721 immunodeficiency +HP:0002721 decreased function immune +HP:0002720 decreased iga +HP:0002720 iga levels reduced +HP:0002720 circulating decreased iga level +HP:0002720 a decreased immunoglobulin +HP:0002720 deficiency iga +HP:0002720 a deficiency gamma globulin +HP:0002720 a immunoglobulin levels low +HP:0000831 diabetes insulin mellitus resistant +HP:0000831 diabetes insulin resistant +HP:0030498 macular thickening +HP:0009152 abnormality bone end finger little part +HP:0009152 abnormality bone end finger part pinky +HP:0009152 abnormality bone end finger part pinkie +HP:0009152 5th abnormality epiphyses finger +HP:0000833 glucose intolerance +HP:0000833 glucose impaired tolerance +HP:0030848 elevated jugular pressure venous +HP:0031290 tuberous xanthoma +HP:0000497 abduction deviation globe on retraction +HP:0000837 circulating gonadotropin increased level +HP:0000837 excess gonadotropin +HP:0000837 elevated gonadotropins serum +HP:0000837 elevated gonadotropins +HP:0009158 bone end enlarged finger innermost part pinkie +HP:0009158 bone end enlarged finger innermost little part +HP:0009158 bone end enlarged finger innermost part pinky +HP:0009158 5th enlarged epiphysis finger phalanx proximal +HP:0030843 amyloid cardiomyopathy +HP:0030843 amyloidosis cardiac +HP:0009150 abnormality bone finger innermost pinkie +HP:0009150 abnormality bone finger innermost little +HP:0009150 abnormality bone finger innermost pinky +HP:0009150 5th abnormality finger phalanx proximal +HP:0031296 atrial hypertrophy septal +HP:0005606 hyperpigmented nevi streak +HP:0025560 anterior cells chamber +HP:0007807 compression nerve optic +HP:0007800 axial globe increased length +HP:0007800 elongated globe +HP:0007800 back eyeball front increased length to +HP:0007803 achromatopsia complete +HP:0007803 colorblindness total +HP:0007803 monochromacy +HP:0007802 corneal dystrophy granular +HP:0031425 beta circulating ctx increased level +HP:0031425 beta c circulating increased level telopeptide terminal +HP:0031425 beta circulating crosslaps increased level +HP:0007809 corneal dystrophy punctate +HP:0030846 abnormality physiology venous +HP:0009898 crus ear underdeveloped +HP:0009898 crus helix underdeveloped +HP:0009898 crus ear hypoplasia +HP:0009899 crus helix hyperplastic +HP:0009899 crus helix hypertrophic +HP:0009899 abnormal crus ear prominence +HP:0009899 crus helix prominent +HP:0011792 by histology neoplasm +HP:0009894 ears thickened +HP:0010893 abnormality metabolism phenylalanine +HP:0009896 abnormality antitragus +HP:0009897 crus helix horizontal +HP:0009897 crus helix horizontal orientation +HP:0009897 crus ear horizontal orientation +HP:0009890 anterior hairline high +HP:0009890 frontal hairline high +HP:0009891 brows underdeveloped +HP:0009891 flat margins supraorbital +HP:0009891 depressed margins supraorbital +HP:0009891 ridges supraorbital underdeveloped +HP:0009891 orbital ridges shallow +HP:0009891 above bony eyes flattened protrusion +HP:0009891 depressed ridge supraorbital +HP:0009891 hypoplastic ridges supraorbital +HP:0009891 flat ridge supraorbital +HP:0009891 hypoplasia margins supraorbital +HP:0009891 ridge shallow supraorbital +HP:0009891 hypoplasia ridges supraorbital +HP:0009892 anotia +HP:0009892 absent ear +HP:0009892 absence ear external +HP:0009892 absent ears +HP:0009893 ear telangiectasia +HP:0003398 abnormal at junction neuromuscular synaptic transmission +HP:0003398 abnormality neuromuscular transmission +HP:0030115 dysferlin fiber muscle reduced +HP:0030114 absent dysferlin fiber muscle +HP:0010895 abnormality glycine metabolism +HP:0007889 cataracts iridescent posterior subcapsular +HP:0007889 cataract iridescent posterior subcapsular +HP:0009767 absent hypoplastic phalanges +HP:0009767 aplasia hand hypoplasia phalanges +HP:0009767 aplastic hypoplastic phalanges +HP:0009767 aplastic hand hypoplastic phalanges +HP:0009765 ala below columella extends nasi +HP:0009765 columella rounded +HP:0009765 columella low +HP:0009765 ala below columella extension nasi +HP:0009765 columella hanging low +HP:0009765 columella prominent +HP:0009762 facial wrinkling +HP:0009763 extremities pain +HP:0009763 limb pain +HP:0009760 cubitale pterygium +HP:0009760 antecubital pterygium +HP:0009760 elbow webbed +HP:0009761 anterior bodies clefting vertebral +HP:0007338 hypermetric saccades +HP:0009768 bones hand wide +HP:0009768 broad hand phalanges +HP:0009768 hand phalanges widening +HP:0009769 bullet hands phalanges shaped +HP:0009769 bullet hand phalanges shaped +HP:0009769 bones bullet hand shaped +HP:0009769 bullet conical distal ends phalanges shaped +HP:0012582 bilateral dysplasia renal +HP:0012583 hypoplasia renal unilateral +HP:0012583 kidney on one side small +HP:0012583 kidney on one side underdeveloped +HP:0012580 calcium phosphate urolithiasis +HP:0012580 calcium nephrolithiasis phosphate +HP:0012581 cyst kidney simple +HP:0012581 cyst renal solitary +HP:0012586 atrophy bilateral renal +HP:0012586 bilateral degeneration kidney +HP:0012587 hematuria macroscopic +HP:0012587 gross hematuria +HP:0012587 bloody urine +HP:0012584 bilateral hypoplasia renal +HP:0012585 atrophy renal +HP:0012585 degeneration kidney +HP:0100429 4th broad phalanx proximal toe +HP:0100429 4th bone innermost toe wide +HP:0012588 nephrotic resistant steroid syndrome +HP:0012589 multidrug nephrotic resistant syndrome +HP:0008855 growth moderate postnatal retardation +HP:0008855 children delay growth moderate +HP:0007886 eye missing muscles +HP:0007886 absent extraocular muscles +HP:0007886 absent muscles ocular +HP:0030119 3 abnormal calpain fiber muscle +HP:0100055 3rd absent end part toe +HP:0100055 3rd absent epiphyses toe +HP:0009429 absent bone finger middle outermost +HP:0009429 3rd aplasia distal finger phalanx +HP:0009428 3rd curved distal finger phalanx +HP:0009428 3rd bone curved finger outermost +HP:0009425 3rd distal finger patchy phalanx sclerosis +HP:0009425 3rd bone density finger increase outermost uneven +HP:0009424 3rd defects distal finger osteolytic phalanx +HP:0009424 defect finger lytic middle phalanx terminal +HP:0009427 bone finger middle outermost shaped triangular +HP:0009427 3rd distal finger phalanx shaped triangular +HP:0008850 growth marked retardation +HP:0008850 children delay growth severe +HP:0008850 failure growth postnatal severe +HP:0008850 deficiency growth postnatal severe +HP:0008850 growth postnatal retardation severe +HP:0009421 absent bone finger middle outermost small +HP:0009421 3rd aplasia distal finger hypoplasia phalanx +HP:0009421 absent bone finger middle outermost underdeveloped +HP:0009420 bone end finger middle part triangular +HP:0009420 3rd epiphyses finger triangular +HP:0009420 3rd delta epiphyses finger shaped +HP:0009423 bone bullet finger middle outermost shaped +HP:0009423 3rd bullet distal finger phalanx shaped +HP:0009422 bone broad finger middle outermost +HP:0009422 3rd broad distal finger phalanx +HP:0001159 syndactyly +HP:0001159 fingers or toes webbed +HP:0001409 hypertension portal +HP:0001408 bile canaliculi proliferation +HP:0001408 bile duct proliferation +HP:0001407 cysts hepatic +HP:0001407 cysts liver +HP:0001406 cholestasis intrahepatic +HP:0001405 fibrosis periportal +HP:0001404 cells death liver +HP:0001404 hepatocellular loss +HP:0001404 hepatocellular necrosis +HP:0001151 abnormal horizontal ocular pursuit +HP:0001151 horizontal impaired pursuit smooth +HP:0001151 horizontal impaired pursuit visual +HP:0001402 carcinoma hepatocellular incidence increased +HP:0001402 carcinoma hepatocellular increased risk +HP:0001402 carcinoma hepatocellular +HP:0001153 septate vagina +HP:0001153 double vagina +HP:0001152 pursuit saccadic slow +HP:0001152 pursuit saccadic smooth +HP:0001152 movements pursuit saccadic +HP:0020042 depressor double palsy +HP:0020043 incomitant strabismus vertical +HP:0020041 double elevator palsy +HP:0020046 accommodative esotropia +HP:0020047 abnormal cell morphology myeloid +HP:0020044 horizontal incomitant strabismus +HP:0020045 esodeviation +HP:0020045 convergent strabismus +HP:0025236 sleep walking +HP:0025236 somnambulism +HP:0020048 b bone cell count marrow pro reduced +HP:0020049 exodeviation +HP:0020049 divergent strabismus +HP:0025237 arousal confusional +HP:0100960 asymmetric ventricles +HP:0100961 enlarged hippocampus +HP:0100962 shyness +HP:0100963 hyperesthesia +HP:0100963 hyperaesthesia +HP:0008383 growing nails slow +HP:0007598 bilateral creases palmar single transverse +HP:0007552 abnormal distribution fat subcutaneous tissue +HP:0007552 abnormal below distribution fat skin tissue +HP:0008388 abnormality toenail +HP:0008388 abnormal morphology toenail +HP:0008388 abnormality toenails +HP:0009397 4th epiphyses finger fragmentation +HP:0009397 bones end finger fragmentation part ring +HP:0009396 bones end enlarged finger part ring +HP:0009396 4th enlarged epiphyses finger +HP:0009395 4th cone epiphyses finger shaped +HP:0009395 bones cone end finger part ring shaped +HP:0009394 4th bracket epiphyses finger +HP:0009394 bones bracket end finger part ring shaped +HP:0009393 4th absent epiphyses finger +HP:0009393 absent bone end finger part ring +HP:0009392 5th epiphyses finger triangular +HP:0009392 end finger little part triangular +HP:0009392 5th delta epiphyses finger shaped +HP:0009392 end finger part pinkie triangular +HP:0009392 end finger part pinky triangular +HP:0009391 bone calcifications end finger little part speckled +HP:0009391 bone calcifications end finger part pinky speckled +HP:0009391 5th epiphyses finger stippling +HP:0009391 bone calcifications end finger part pinkie speckled +HP:0009390 bone end finger part pinky small +HP:0009390 bone end finger little part small +HP:0009390 bone end finger part pinkie small +HP:0009390 5th epiphyses finger small +HP:0025238 foot pain +HP:0009399 bone density end finger increased part ring +HP:0009399 4th epiphyses finger ivory +HP:0009398 bones end finger irregular part ring +HP:0009398 4th epiphyses finger irregular +HP:0030502 retinoschisis +HP:0030503 parafoveal telangiectasia +HP:0030503 juxtafoveal telangiectasia +HP:0030503 macular telangiectasia +HP:0030500 lesions macula white yellow +HP:0030501 crystals macular +HP:0030506 lesions retina white yellow +HP:0030507 crystals retinal +HP:0030504 bear epithelium hypertrophy pigment retinal track +HP:0030504 epithelium grouped hypertrophy pigment retinal +HP:0030505 nummular pigmentation retina +HP:0030505 fundus nummular pigmentation +HP:0030508 cavernous hemangioma retinal +HP:0030508 cavernous haemangioma retinal +HP:0030509 hemangioma racemose retinal +HP:0030509 haemangioma racemose retinal +HP:0005099 fetalis hydrops severe +HP:0005099 hydrops severe +HP:0410279 atrophic gland pituitary +HP:0410279 atrophic pituitary +HP:0410279 atrophy gland pituitary +HP:0005090 bowing femoral lateral +HP:0005092 bone density increase portion streak wide +HP:0005092 metaphyseal sclerosis streaky +HP:0005093 absent epiphyses proximal radial +HP:0005096 bowing distal femoral +HP:0012820 bilateral cord paralysis vocal +HP:0008414 infancy kyphosis lumbar +HP:0008414 back hunched infancy +HP:0008414 back infancy round +HP:0025356 motormental retardation +HP:0025356 impairment psychomotor +HP:0025356 psychomotor slowing +HP:0025356 psychomotor retardation +HP:0010528 prosopagnosia +HP:0010528 agnosia facial +HP:0010528 blindness face +HP:0010529 echolalia +HP:0010529 echophrasia +HP:0010529 echologia +HP:0010529 repeated speech +HP:0010526 dysgraphia +HP:0010527 astereognosis +HP:0010527 astereognosia +HP:0010527 agnosia somatosensory +HP:0010524 agnosia +HP:0010525 agnosia finger +HP:0010522 disability reading +HP:0010522 dyslexia +HP:0010523 blindness text +HP:0010523 alexia +HP:0010523 blindness word +HP:0010521 apraxia gait +HP:0000570 abnormality eye movements saccadic +HP:0000570 abnormal eye movements saccadic +HP:0000570 impaired saccades +HP:0000571 hypometric saccades +HP:0000572 loss visual +HP:0000572 loss vision +HP:0000573 hemorrhage retinal +HP:0000573 hemorrhages retinal +HP:0000573 bleeding retinal +HP:0000574 eyebrow thick +HP:0000574 bushy eyebrows +HP:0000574 eyebrows heavy +HP:0000574 dense eyebrow +HP:0000574 eyebrow hypertrichosis +HP:0000574 eyebrows thick +HP:0000574 eyebrows prominent +HP:0000574 eyebrows hypertrichosis +HP:0000575 blind spot +HP:0000575 scotoma +HP:0000576 centrocecal scotoma +HP:0000577 ball eye facing outward +HP:0000577 exotropia +HP:0005274 nose pronounced tip +HP:0005274 hypertrophy nose tip +HP:0005274 nasal prominent tip +HP:0005274 bulbous nose tip +HP:0005274 nose prominent tip +HP:0005274 large nasal tip +HP:0005274 hyperplasia nasal tip +HP:0005274 large nose tip +HP:0005274 hyperplasia nose tip +HP:0005274 hypertrophy nasal tip +HP:0005274 nasal pronounced tip +HP:0000579 duct nasolacrimal obstruction +HP:0000579 duct lacrimal obstruction +HP:0040186 exanthema maculopapular +HP:0005272 deep laugh lines +HP:0005272 deep fold nasolabial +HP:0005272 lines prominent smile +HP:0005272 fold nasolabial prominent +HP:0005272 groove nasolabial prominent +HP:0005272 laugh lines prominent +HP:0005272 deep groove nasolabial +HP:0005272 deep lines smile +HP:0005272 crease nasolabial prominent +HP:0005272 crease deep nasolabial +HP:0005273 absent nasal septum +HP:0005273 cartilage development failure nasal septal +HP:0005273 absent cartilage nasal septal +HP:0005273 ageneis cartilage nasal septal +HP:0003001 glomus jugular tumor +HP:0003001 glomus jugulare tumors +HP:0003001 glomus jugulare tumor +HP:0004052 bones delayed hand ossification +HP:0004052 delay delayed hand maturation ossification +HP:0004052 bones delayed hand maturation +HP:0004051 accelerated bones hand maturation +HP:0004051 advanced bones hand ossification +HP:0004051 advanced bones hand maturation +HP:0003002 breast cancer +HP:0003002 breast carcinoma +HP:0003005 ganglioneuroma +HP:0003006 neuroblastoma +HP:0003009 enhanced neurotoxicity vincristine +HP:0004059 dysplasia radial +HP:0004059 club hand radial +HP:0004058 hand monodactyly +HP:0030601 abnormal imaging posterior segment +HP:0025350 conjunctival giant papillae +HP:0011940 12th anterior thoracic vertebra wedging +HP:0011940 anterior t12 wedging +HP:0011940 12th shaped thoracic vertebra wedge +HP:0031901 beta cell concentration increased mast serum tryptase +HP:0031900 abnormal beta cell concentration mast serum tryptase +HP:0031903 abnormal concentration selenium serum +HP:0031902 beta cell concentration decreased mast serum tryptase +HP:0031905 activity complement hemolytic increased total +HP:0031904 abnormal ch50 +HP:0031904 abnormal activity complement hemolytic total +HP:0031907 anti antibody m2 mitochondrial positivity +HP:0031907 ama m2 positive +HP:0031906 activity complement decreased hemolytic total +HP:0031909 unicornuate uterus +HP:0031908 micrographia +HP:0010220 2nd abnormality bone end hand long part +HP:0010220 2nd abnormality epiphysis metacarpal +HP:0011122 abnormality physiology skin +HP:0009178 5th finger middle phalanx symphalangism +HP:0009178 bones finger fused little middle +HP:0009178 bones finger fused middle pinky +HP:0009178 bones finger fused middle pinkie +HP:0030097 absent dystrophin expression muscle +HP:0011929 finger hypersegmentation phalanx proximal third +HP:0011928 phalanx proximal short toe +HP:0011928 bone innermost short toe +HP:0011699 atrial reentry tachycardia +HP:0011698 a accessory manifest on pathway septum supraventricular tachycardia with +HP:0011925 atpase complex deficiency respiratory +HP:0011925 activity atp complex decreased mitochondrial synthase +HP:0011924 activity complex decreased iii mitochondrial +HP:0011924 complex deficiency iii respiratory +HP:0011927 digits short very +HP:0011927 digit short +HP:0011926 big placement proximal toe +HP:0011926 hallux placement proximal +HP:0011926 halluces placed proximally +HP:0011921 effusion exudative pleural +HP:0011920 effusion pleural transudative +HP:0011923 complex deficiency i respiratory +HP:0011923 activity complex decreased i mitochondrial +HP:0011922 abnormal activity chain mitochondrial respiratory +HP:0012007 auras hallucinatory +HP:0012006 jamais vu +HP:0012005 deja vu +HP:0012004 auras mnemonic +HP:0012003 affective auras +HP:0012002 auras experiential +HP:0012001 eeg generalized polyspikes with +HP:0100396 4th phalanx proximal short toe +HP:0100396 4th hypoplastic phalanx proximal small toe +HP:0100396 fourth phalanx proximal short toe +HP:0100395 phalanx proximal short third toe +HP:0100395 3rd hypoplastic phalanx proximal small toe +HP:0100395 3rd phalanx proximal short toe +HP:0012009 central eeg focal spike waves with +HP:0000346 appearance whistling +HP:0000346 appearance facial whistling +HP:0011073 abnormality color tooth +HP:0011073 abnormality shade tooth +HP:0011073 abnormality dental shade +HP:0011073 abnormality color dental +HP:0011072 missing root tooth +HP:0011072 absence root tooth +HP:0011072 agenesis root tooth +HP:0011072 roots teeth without +HP:0011072 rootless teeth +HP:0011072 aplasia root tooth +HP:0011072 dentin dysplasia i tooth type with +HP:0011071 abnormality molar morphology permanent +HP:0011071 abnormality adult molar shape +HP:0011071 abnormality molar permanent shape +HP:0011070 abnormality molar morphology +HP:0011070 abnormal molar shape tooth +HP:0011077 abnormality molar +HP:0011076 abnormality premolar +HP:0011076 abnormality bicuspid +HP:0011075 green teeth +HP:0011075 green shade tooth +HP:0011075 colored green teeth +HP:0011074 enamel hypoplasia localized tooth +HP:0011074 dental enamel hypoplasia localized +HP:0011074 dysplasia enamel localized tooth +HP:0007657 cataract diffuse nuclear +HP:0011079 retained tooth +HP:0011079 buried tooth +HP:0011079 impacted tooth +HP:0011078 abnormality canine +HP:0011078 abnormality eye tooth +HP:0002068 dysphagia neuromuscular +HP:0002069 clonic seizures tonic +HP:0002069 clonic generalised seizures tonic +HP:0002069 clonic convulsion tonic +HP:0002069 grand mal seizures +HP:0002069 clonic generalized seizures tonic +HP:0002069 clonic convulsions tonic +HP:0009959 3rd duplication finger phalanx +HP:0009959 3rd complete duplication finger partial phalanges +HP:0009959 bone duplication finger middle +HP:0009958 3rd affecting finger polydactyly +HP:0009958 extra finger middle +HP:0009955 2nd duplication finger partial phalanx proximal +HP:0009955 bones duplication finger index partial proximal +HP:0009954 2nd complete duplication finger phalanx proximal +HP:0009954 bone complete duplication finger index proximal +HP:0009957 bones complete duplication finger index +HP:0009957 2nd complete duplication finger phalanges +HP:0009956 bones duplication finger index partial +HP:0009956 2nd duplication finger partial phalanges +HP:0009951 bone finger index notched outermost +HP:0009951 2nd distal duplication finger partial phalanx +HP:0009951 2nd bone duplication finger outermost partial +HP:0009951 2nd bifid finger phalanx terminal +HP:0009950 bone complete duplication finger index outermost +HP:0009950 2nd complete distal duplication finger phalanx +HP:0009953 2nd duplication finger middle partial phalanx +HP:0009953 bone duplication finger index middle partial +HP:0009952 bone complete duplication finger index middle +HP:0009952 2nd complete duplication finger middle phalanx +HP:0410251 abnormal l selectin shedding +HP:0410252 chronic neutropenia +HP:0410253 arrest bone chronic marrow maturation myeloid neutropenia +HP:0410254 arrest bone cyclic marrow maturation myeloid neutropenia +HP:0410255 neutropenia transient +HP:0410256 associated infection neutropenia +HP:0410257 infection neutrophilia presence +HP:0410258 absence infection neutrophilia +HP:0410259 fusion hepatopulmonary +HP:0410259 fusion hepatic pulmonary +HP:0007650 ophthalmoplegia progressive +HP:0007123 dementia subcortical +HP:0031016 sign stripe zebra +HP:0031016 alternating lines metaphyseal radiodense radiolucent +HP:0007126 amyotrophy proximal +HP:0007126 atrophy limb muscle proximal symmetrical +HP:0007126 muscle proximal wasting +HP:0007126 atrophy muscular proximal symmetric +HP:0007126 body muscles near wasting +HP:0007126 atrophy muscle proximal +HP:0007655 eversion eyelids lateral lower third +HP:0007656 aplasia gland lacrimal +HP:0007656 absent gland tear +HP:0008605 deformed ear external on one side +HP:0008605 deformity ear external unilateral +HP:0007658 hyperpigmented large retinal spots +HP:0012695 decreased thalamic volume +HP:0008609 abnormality ear middle morphological +HP:0008609 ear malformation middle +HP:0100399 distal duplication fourth phalanx toe +HP:0100399 4th distal duplication phalanx toe +HP:0100399 4th bone duplication outermost toe +HP:0100399 4th complete distal duplication partial phalanx toe +HP:0100398 3rd distal duplication phalanx toe +HP:0100398 3rd bone duplication outermost toe +HP:0100398 distal duplication phalanx third toe +HP:0100398 3rd complete distal duplication partial phalanx toe +HP:0025053 acetyl aspartate brain by elevated level magnetic n resonance spectroscopy +HP:0025053 acetyl aspartate brain by elevated level mrs n +HP:0006938 ankles at impaired sensation vibration +HP:0006938 ankles at decreased sense vibration +HP:0006938 decreased feet sense vibration +HP:0030692 brain neoplasm +HP:0030692 brain tumor +HP:0030692 brain tumour +HP:0030693 parenchymal pineal tumor +HP:0030693 neoplasm supratentorial +HP:0030693 parenchymal pineal tumour +HP:0030690 cleft gingival +HP:0030691 divergence nystagmus +HP:0030691 a beat both condition eyes outward simultaneously which +HP:0030694 cell neoplasm parenchymal pineal +HP:0012451 acute constipation +HP:0012452 disease ekbom willis +HP:0012452 legs restless +HP:0012452 ekbom syndrome wittmaack +HP:0012452 legs restless syndrome +HP:0031014 artery lusorian +HP:0031014 aberrant artery right subclavian +HP:0031014 arteria lusoria +HP:0008754 calcification laryngeal +HP:0008754 calcifications laryngeal +HP:0100190 4th bone end middle part toe triangular +HP:0100190 4th epiphysis middle phalanx toe triangular +HP:0025339 episcleral hypaeremia superficial +HP:0025339 episcleral hyperemia superficial +HP:0025338 circumlimbal hyperaemia +HP:0025338 circumlimbal hyperemia +HP:0025338 ciliary limbus +HP:0100195 4th epiphysis fragmentation phalanx proximal toe +HP:0100195 4th bone end fragmentation innermost part toe +HP:0100194 4th enlarged epiphysis phalanx proximal toe +HP:0100194 4th bone end enlarged innermost part toe +HP:0100197 4th epiphysis ivory phalanx proximal toe +HP:0100197 4th bone density end increased innermost part toe +HP:0100196 4th epiphysis irregular phalanx proximal toe +HP:0100196 4th bone end innermost irregular part toe +HP:0025333 bones cortical foot thinning +HP:0025332 abnormality bone cortical foot +HP:0025332 abnormality bones cortex foot +HP:0025331 paresis upgaze +HP:0025331 palsy upgaze +HP:0025331 palsy supranuclear upgaze +HP:0025330 downgaze palsy supranuclear +HP:0025330 downgaze palsy +HP:0025330 downgaze paresis +HP:0025337 eye red +HP:0025336 ability delayed sit to +HP:0025335 ability delayed stand to +HP:0005875 dermatoglyphic increased whorls +HP:0100898 connective nevi tissue +HP:0012456 arterial calcification medial +HP:0012325 chronic leukemia myelomonocytic +HP:0008755 laryngotracheomalacia +HP:0100899 bone density finger increased +HP:0100899 hand phalanges sclerosis +HP:0100899 finger phalanx sclerosis +HP:0200102 absence eyelashes partial to total +HP:0200102 absent eyelashes sparse to +HP:0200102 absent eyelashes or sparse +HP:0040239 after epoxide increased k plasma supplementation vitamin +HP:0001831 short toes +HP:0001831 hypoplasia toe +HP:0001831 brachydactyly foot +HP:0001831 stubby toes +HP:0001831 foot phalanges short +HP:0001831 short toe +HP:0001831 hypoplastic toes +HP:0006521 lymphangiectasis pulmonary +HP:0006521 lymphangiectasia pulmonary +HP:0006292 anomaly dental eruption +HP:0006292 abnormality dental eruption +HP:0006292 dental disorder eruption +HP:0006292 abnormality eruption tooth +HP:0006292 dental disturbance eruption +HP:0006292 disorder eruption tooth +HP:0006292 anomaly eruption tooth +HP:0006292 disturbance eruption tooth +HP:0006292 abnormal dental eruption +HP:0006291 delay eruption permanent severe teeth +HP:0006291 delay eruption marked permanent teeth +HP:0006291 eruption late permanent teeth very +HP:0006291 adult eruption late teeth very +HP:0006291 adult delay eruption severe teeth +HP:0006522 pneumothoraces repeated +HP:0006522 pneumothorax repeated +HP:0012523 aversion oral +HP:0006524 leiomyomatosis tracheobronchial +HP:0006527 interstitial lymphoid pneumonia +HP:0006527 interstitial lymphoid pneumonitis +HP:0006529 abnormal lymphatics pulmonary +HP:0006528 chronic disease lung +HP:0006298 after bleeding dental extraction prolonged +HP:0000969 dropsy +HP:0000969 edema +HP:0000969 hydrops +HP:0000969 fluid retention +HP:0000969 retention water +HP:0000969 oedema +HP:0000968 dysplasia ectodermal +HP:0031010 finger hyperphalangy third +HP:0031010 3rd finger hyperphalangy +HP:0000963 skin thin +HP:0000962 hyperkeratosis +HP:0000961 blue discoloration skin +HP:0000961 cyanosis +HP:0000960 dimple sacral +HP:0000960 dimple pilonidal +HP:0000960 dimple spinal +HP:0000967 petechiae +HP:0000966 oligohidrosis +HP:0000966 inadequate sweating +HP:0000966 hypohidrosis +HP:0000966 decreased sweating +HP:0000966 ability decreased sweat to +HP:0000965 livedo reticularis +HP:0000965 cutis marmorata +HP:0000964 eczema +HP:0031123 gastroenteritis recurrent +HP:0031122 aortic bicuspid raphe two valve +HP:0031121 aortic bicuspid cusp fusion left noncoronary valve with +HP:0031120 aortic bicuspid cusp fusion noncoronary right valve with +HP:0200028 myxedema pretibial +HP:0200028 dermopathy graves +HP:0200029 cutaneous vasculitis +HP:0200029 skin vasculitis +HP:0031125 2a adrenergic alpha decreased platelet receptor +HP:0031124 a2 decreased platelet receptor thromboxane +HP:0200024 chromatid premature separation +HP:0200025 jaw lower pain +HP:0200025 mandibular pain +HP:0200026 eye pain +HP:0200026 ocular pain +HP:0031128 aggregation collagen impaired induced peptide platelet related +HP:0200020 away breakdown cornea eye or wearing +HP:0200020 corneal erosion +HP:0200107 arms dynein inner shortened +HP:0200022 choroid papilloma plexus +HP:0200023 priapism +HP:0200023 hulseyism +HP:0500090 capillary hemangioma periocular +HP:0500090 capillary hemangioma ocular peri +HP:0500091 lymphangioma orbit +HP:0500092 orbital rhabdomyosarcoma +HP:0500093 allergy e food immunoglobulin mediated +HP:0500093 allergy food +HP:0500093 allergy food ige mediated +HP:0500094 allergy latex +HP:0500095 anaphylaxis food induced +HP:0500096 anaphylaxis induced venom +HP:0500097 stool xenobiotic +HP:0500098 meconium xenobiotic +HP:0500099 hair xenobiotic +HP:0006749 gi malignant tract tumors +HP:0006749 gastrointestinal malignant tract tumors +HP:0006748 adrenal pheochromocytoma +HP:0006748 adrenal pheochromocytomas +HP:0030995 effusion peritoneal +HP:0030994 divisum pancreas +HP:0030997 atresia deferens vas +HP:0030997 atretic deferens vas +HP:0030996 megaduodenum +HP:0030991 cholangitis sclerosing +HP:0030991 cholangitis fibrous +HP:0030990 cholangitis pleomorphic +HP:0030993 duct duplicated pancreatic +HP:0030993 duct duplication pancreatic +HP:0030992 abnormal duct morphology pancreatic +HP:0010301 dysraphism spinal +HP:0010301 arch closure incomplete vertebral +HP:0030999 abnormal morphology saccule vestibular +HP:0030998 csf rhinorrhoea +HP:0030998 cerebrospinal fluid rhinorrhoea +HP:0500114 abnormal concentration stool urobilinogen +HP:0031028 lactescence plasma +HP:0031028 like milk serum +HP:0031028 lactescent serum +HP:0031029 antigen carcinoembryonic elevated level +HP:0031029 cea increased plasma +HP:0031026 ilia like snail +HP:0031026 ilia shaped snail +HP:0031026 dysplasia schneckenbecken +HP:0031026 like pelvis snail +HP:0031027 femoral head internal notch +HP:0031024 cylindroma +HP:0031025 gastric leiomyosarcoma +HP:0031022 oropharyngeal papilloma squamous +HP:0031023 mucosal multiple neuromas +HP:0031020 bone hypercellularity marrow +HP:0031021 papilloma squamous +HP:0007249 decreased fibers myelinated nerve number peripheral small +HP:0030885 infections parasitic recurrent +HP:0200105 absent fifth toenail +HP:0200105 fifth missing toenail +HP:0500117 abnormal concentration csf urate +HP:0040149 hair kinky scalp texture +HP:0040149 hair nappy scalp texture +HP:0040149 afro hair scalp textured +HP:0040149 hair scalp woolly +HP:0040148 cortical myoclonus +HP:0040145 acidemia dicarboxylic +HP:0040144 2 aciduria hydroxyglutaric l +HP:0040147 2 acidemia hydroxyglutaric l +HP:0040146 2 acidemia d hydroxyglutaric +HP:0040141 dyskinesia tardive +HP:0040140 degeneration striatum +HP:0040143 dystopic odontoideum os +HP:0040142 5 deficiency oxoprolinase +HP:0009320 3rd abnormality epiphyses finger +HP:0009320 abnormality bone end finger middle part +HP:0500116 barbiturate blood positive test +HP:0000295 doll facies like +HP:0000295 appearance doll facial like +HP:0000294 frontal hairline low set +HP:0000294 frontal hairline low +HP:0000294 anterior hairline low +HP:0000297 facial muscle reduced tone +HP:0000297 facial hypotonia +HP:0000297 facies hypotonic +HP:0000297 atony facial musculature +HP:0000297 decreased facial muscle tone +HP:0000297 facial low muscle tone +HP:0005013 distal dysplastic epiphyses radial +HP:0000291 adipose deformity facial tissue +HP:0000291 abnormality adipose facial tissue +HP:0000291 abnormality facial fat +HP:0000291 adipose facial malformation tissue +HP:0000290 abnormality face frontal region +HP:0000290 abnormality forehead +HP:0000290 anomaly forehead +HP:0000290 forehead malformation +HP:0000290 deformity forehead +HP:0000293 big cheeks +HP:0000293 cheeks full +HP:0000293 cheeks hypertrophy +HP:0000293 cheeks chubby +HP:0000293 cheeks hyperplasia +HP:0000293 apple cheeks +HP:0000293 cheeks increased size +HP:0000293 cheeks puffy +HP:0000293 cheeks large +HP:0000126 hydronephrosis +HP:0005445 fossa posterior widened +HP:0000124 disease renal tubular +HP:0000124 abnormal filtrating function kidney structures +HP:0000124 defect renal tubular +HP:0000124 dysfunction renal tubular +HP:0004608 anteriorly odontoid placed process +HP:0004609 distortion patchy vertebrae +HP:0004606 bodies unossified vertebral +HP:0004607 anterior beaking lower thoracic vertebrae +HP:0003924 calcification humeral metaphysis stippled +HP:0003924 arm bone calcification long metaphysis speckled upper +HP:0004605 absent body mineralization vertebral +HP:0004602 c2 c3 cervical fusion vertebral +HP:0004602 3 c2 cervical fusion vertebrae +HP:0004602 feil klippel syndrome +HP:0004603 body endplates hyperconvex vertebral +HP:0003920 humeral metaphysis sloping +HP:0003920 arm bone long metaphysis sloping upper +HP:0003921 arm bone laterally long metaphysis sloping upper +HP:0003921 humeral laterally metaphysis sloping +HP:0001218 autoamputation +HP:0000121 nephrocalcinosis +HP:0000121 calcium deposited kidneys much too +HP:0000121 calcium increased kidney level +HP:0010545 downbeat nystagmus +HP:0001212 finger pads prominent +HP:0001212 fetal fingertip pads persistent +HP:0001212 fingertip pads prominent +HP:0001212 fingerpads persistence +HP:0005336 forehead hyperpigmentation +HP:0005336 darkening forehead +HP:0001216 carpal delayed ossification +HP:0001216 bones carpal delayed ossification +HP:0001216 age bone carpal delayed +HP:0001216 bone delayed maturation wrist +HP:0001216 bones carpal delayed maturation +HP:0001217 clubbing +HP:0001217 clubbing fingers toes +HP:0001217 clubbing digital +HP:0001215 2nd 5th camptodactyly fingers +HP:0000039 epispadias +HP:0005518 erythrocyte macrocytosis +HP:0005518 increased mcv +HP:0005518 corpuscular increased mean volume +HP:0410278 cyst gland pituitary +HP:0000749 bursts laughter paroxysmal +HP:0000749 laughter paroxysmal +HP:0000748 inappropriate laughter +HP:0005511 anemia body heinz +HP:0000030 gonadoblastoma male +HP:0000030 gonadoblastoma testicular +HP:0000033 ambiguous genitalia males +HP:0000033 ambiguous genitalia male +HP:0000032 abnormality external genitalia male +HP:0000035 anomaly testes +HP:0000035 abnormality testis +HP:0000034 hydrocele testis +HP:0000034 hydrocele +HP:0000034 hydrocele testicular +HP:0000037 male pseudohermaphroditism +HP:0000036 abnormality penis +HP:0008593 antitragus prominent +HP:0008593 antitragus enlarged +HP:0008593 antitragus hypertrophic +HP:0008593 antitragus hyperplastic +HP:0008591 conductive hearing loss +HP:0008591 conductive deafness +HP:0008591 conductive hearing impairment +HP:0008596 hearing impairment postlingual sensorineural +HP:0100759 clubbing fingers +HP:0100759 clubbing hands +HP:0100759 clubbed fingers +HP:0100759 clubbing finger +HP:0100758 gangrene +HP:0100757 pancreatoblastoma +HP:0011267 abnormal ear shape structure +HP:0011267 degree microtia third +HP:0011264 ascending discontinuous helix root +HP:0100754 manic +HP:0100754 mania +HP:0100753 schizophrenia +HP:0100752 anomalous hepatic lobulation +HP:0100752 abnormal liver lobulation +HP:0100752 anomalous liver lobulation +HP:0100751 esophageal neoplasm +HP:0100751 esophageal tumor +HP:0100750 atelectasis pulmonary +HP:0100750 atelectasis +HP:0100750 collapse complete entire lung or part partial +HP:0009182 bone finger middle pinkie shaped triangular +HP:0009182 bone finger middle pinky shaped triangular +HP:0009182 5th finger middle phalanx shaped triangular +HP:0009182 bone finger little middle shaped triangular +HP:0009183 5th contracture finger joint +HP:0009183 camptodactyly fifth finger +HP:0009180 5th deviation finger ulnar +HP:0009186 5th contracture finger joint metacarpophalangeal +HP:0009187 bone bracket end finger outermost part pinkie shaped +HP:0009187 bone bracket end finger outermost part pinky shaped +HP:0009187 5th bracket distal epiphysis finger phalanx +HP:0009187 bone bracket end finger little outermost part shaped +HP:0009184 5th contracture distal finger interphalangeal joint +HP:0009185 5th camptodactyly finger +HP:0009185 5th contracture finger interphalangeal joint proximal +HP:0009037 atrophy muscular segmental spinal +HP:0009188 5th distal finger phalanx pseudoepiphysis +HP:0009189 epiphyses fragmentation metacarpal +HP:0009189 bone end fragmentation hand long part +HP:0410273 hemangioma retropharyngeal +HP:0410270 esophageal hemangioma +HP:0410271 hemangioma laryngeal +HP:0410271 hemangioma throat +HP:0003477 axonal neuropathy +HP:0003477 axonal neuropathy peripheral +HP:0012794 cerebral hypodensities matter periventricular white +HP:0012794 hypodensities matter periventricular white +HP:0003472 hypocalcemic tetany +HP:0003473 at defect due generalized junction muscle neuromuscular to weakness +HP:0003473 fatigable weakness +HP:0003473 at defect due junction muscle neuromuscular proximal to weakness +HP:0003473 myasthenic weakness +HP:0003473 fatigable limb muscles weakness +HP:0003473 myasthenia +HP:0007750 fovea hypoplasia +HP:0007750 foveal hypoplasia +HP:0007750 dull foveal reflex +HP:0012790 abnormal bone intramembranous ossification +HP:0012790 abnormal intramembranous ossification +HP:0010516 hyperplasia thymus +HP:0010516 enlarged thymus +HP:0010516 hyperplasia thymic +HP:0002529 loss neuronal +HP:0002529 central loss nervous neuronal system +HP:0002529 brain cells loss +HP:0002528 degeneration granulovacuolar +HP:0007677 lesions like macular vitelliform +HP:0007677 lesions macular vitelliform +HP:0007677 dystrophy macular vitelliform +HP:0002524 cataplexy +HP:0002527 falls +HP:0002526 deficit nonword repetition +HP:0002521 by eeg hypsarrhythmia +HP:0002521 hypsarrhythmia +HP:0002522 areflexia limbs lower +HP:0002522 absent limb lower reflexes tendon +HP:0011488 abnormality corneal endothelium +HP:0011488 abnormal corneal endothelium morphology +HP:0011489 abnormal corneal endothelium migration +HP:0008921 at birth dwarfism limb recognizable short +HP:0008921 at birth dwarfism identifiable limb short +HP:0008921 dwarfism limbed neonatal short +HP:0008921 at birth dwarfism identifiable limbed short +HP:0008921 dwarfism identifiable limb neonatally short +HP:0008921 limb neonatal short stature +HP:0011482 abnormal gland lacrimal morphology +HP:0011482 abnormality gland lacrimal +HP:0011483 iridocorneal synechia +HP:0011483 anterior chamber synechiae +HP:0011483 anterior synechiae +HP:0011483 adhesion cornea iris +HP:0011480 abnormally eyeball on one side small +HP:0011480 microphthalmos unilateral +HP:0011480 nanophthalmos unilateral +HP:0011481 abnormal duct lacrimal morphology +HP:0011481 abnormality canaliculus lacrimal +HP:0011481 abnormality duct lacrimal +HP:0011486 abnormality corneal thickness +HP:0011487 corneal increased thickness +HP:0011484 adhesions iridolenticular +HP:0011484 anterior chamber posterior synechiae +HP:0011484 posterior synechiae +HP:0011485 adhesion corneolenticular +HP:0025430 cry high pitched +HP:0025431 cry staccato +HP:0025432 acanthoma +HP:0025433 activity acyl cholesterol decreased lecithin transferase +HP:0025434 activity complement hemolytic reduced +HP:0025435 activity dehydrogenase increased lactate +HP:0025436 deoxycorticosterone elevated serum +HP:0025436 21 elevated hydroxyprogesterone serum +HP:0025436 11 deoxycortisol elevated serum +HP:0025437 head macrocephalic sperm +HP:0003214 cell cycle g2 phase prolonged +HP:0025439 swollen throat +HP:0025439 pharyngitis +HP:0003216 amyloid deposition generalized +HP:0003217 glutamine high plasma +HP:0003217 hyperglutaminemia +HP:0003210 activity coa decreased methylmalonyl mutase +HP:0003212 elevated ige serum +HP:0003212 e elevated immunoglobulin +HP:0003212 ige increased level +HP:0003212 e high immunoglobulin +HP:0003213 deficient dimers dna excision induced pyrimidine uv +HP:0100879 enlarged ovaries +HP:0011341 elongation lip upper +HP:0011341 increased length lip upper vertical +HP:0011341 height increased lip upper +HP:0011341 lip long upper +HP:0010514 hyperpituitarism +HP:0002297 color hair red +HP:0002297 hair red +HP:0002297 color ginger hair +HP:0002297 color hair head red +HP:0100876 crease infraorbital +HP:0100876 creases infraorbital +HP:0100876 creases skin underorbital +HP:0100876 crease eye skin under +HP:0100876 crease infra orbital +HP:0100876 eye groove skin under +HP:0002293 hair missing scalp +HP:0002293 absence hair scalp +HP:0002293 alopecia scalp +HP:0002293 from hair loss pathologic scalp +HP:0002293 baldness +HP:0002293 hair loss scalp +HP:0002292 baldness male pattern +HP:0002292 balding frontal +HP:0100877 diverticulum pelvic renal +HP:0100877 caliceal diverticulum +HP:0100877 diverticulum pelvic +HP:0100877 diverticulum renal +HP:0011126 nephroptosis +HP:0011126 floating kidney +HP:0011126 ptosis renal +HP:0002299 hair reduced strength tensile +HP:0002299 breakable easily hair +HP:0002299 fractured hair +HP:0002299 brittle hair +HP:0002299 fragile hair +HP:0002298 absent hair +HP:0100875 half hyperplasia tongue +HP:0100875 half large tongue +HP:0100875 hemimacroglossia +HP:0100875 half increased size tongue +HP:0100875 half hypertrophy tongue +HP:0100875 hemiglossal hypertrophy +HP:0100875 hemiglossal hyperplasia +HP:0100872 abnormality foot plantar skin +HP:0100872 anomalies feet minor +HP:0010513 calcification pituitary +HP:0100870 soles telangiectases +HP:0100870 plantar telangiectasia +HP:0100870 plantar teleangiectasia +HP:0100870 soles teleangiectases +HP:0100871 abnormality palm +HP:0010469 absent testis +HP:0010469 absence palpable testicules +HP:0010469 absent testes +HP:0010469 aplasia testes +HP:0010468 absent testes underdeveloped +HP:0010468 aplasia hypoplasia testes +HP:0010468 absent small testes +HP:0500170 abnormal acylcarnitine concentration urine +HP:0011120 concave dorsum nasal +HP:0011120 deformity nose saddle +HP:0011120 boxer deformity nose s +HP:0011120 jump nose ski +HP:0011120 nose saddle +HP:0011120 concave dorsum nose +HP:0011120 concave nasal ridge +HP:0011120 boxer deformity nasal s +HP:0011120 dorsum nasal saddle shaped +HP:0031677 polymorphic tachycardia ventricular +HP:0007367 affecting atrophy central degeneration nervous system +HP:0005684 arthrogryposis distal +HP:0010511 long toe +HP:0010511 long toes +HP:0010511 increased length toes +HP:0006190 deviated radially wrists +HP:0006191 creases deep palmar +HP:0006191 crease deep palmar +HP:0006191 deep line palm +HP:0006192 bone finger tapered +HP:0006192 finger phalanx tapered +HP:0006193 bones hand middle shaped thimble +HP:0006193 hand middle phalanges shaped thimble +HP:0010461 abnormality genitalia male +HP:0010461 abnormal genitals male +HP:0010460 abnormality female genitalia +HP:0010510 hypermobility joints toe +HP:0012612 abnormal concentration sulfate urinary +HP:0012613 increased sulfate urinary +HP:0012610 abnormality acid concentration uric urinary +HP:0012611 increased urate urinary +HP:0012616 blood casts cell white +HP:0012616 cylindruria leukocyte +HP:0012617 blood casts cell red +HP:0012617 cylindruria erythrocyte +HP:0012614 abnormal cytology urine +HP:0012615 cylindruria +HP:0012615 casts urinary +HP:0012618 cyst urachal +HP:0012619 bladder multiple pouches wall +HP:0012619 bladder diverticula multiple +HP:0006999 basal ganglia gliosis +HP:0200011 abnormal callosum corpus length +HP:0100659 abnormality blood cerebral vessels +HP:0100659 abnormality cerebral vasculature +HP:0006990 dependent gliosis myelin +HP:0006992 anterior basal encephalocele +HP:0006994 diffuse leukoencephalopathy +HP:0009748 earlobes fleshy +HP:0009748 earlobe large +HP:0009748 earlobe fleshy +HP:0009748 ear lobes prominent +HP:0009748 ear lobules prominent +HP:0009740 abnormally gland parotid small +HP:0009740 gland parotid underdevelopment +HP:0009740 absence gland parotid +HP:0009740 gland hypoplasia parotid +HP:0009740 aplasia gland parotid +HP:0025272 melasma +HP:0025272 chloasma +HP:0025272 facial melanosis +HP:0009742 shoulders stiff +HP:0009743 distichiasis eyelashes eyelid +HP:0009743 distichiasis +HP:0009744 abnormality dura mater spinal +HP:0009744 abnormal dura mater morphology spinal +HP:0009745 arachnoid canal cysts epidural spinal +HP:0009745 cyst spinalarachnoid +HP:0009746 nasal septum thick +HP:0009746 broad nasal septum +HP:0009746 broad nose septum +HP:0009746 nasal septum wide +HP:0009746 nose septum thick +HP:0009746 nose septum wide +HP:0009747 hirsutism lumbosacral +HP:0009856 hand patchy phalanges proximal sclerosis +HP:0009856 finger patchy phalanx proximal sclerosis +HP:0009856 bone density finger increase innermost uneven +HP:0030908 1 anti lkm positive +HP:0030908 1 antibody kidney liver microsome positivity type +HP:0030679 ash leaf spot +HP:0030909 1 anti antibody cytosol liver positivity +HP:0030909 1 anti antibody antigen cytosolic liver positivity type +HP:0008839 bones hypoplastic pelvic +HP:0008839 pelvis small +HP:0008839 hypoplastic pelvis +HP:0007363 aplasia hypoplasia pyramidal tract +HP:0100038 growing hair scalp slow +HP:0100039 bones cortex thickened +HP:0030907 headache thunderclap +HP:0007351 arms postural tremor +HP:0007351 limb postural tremor upper +HP:0100033 disorder tic +HP:0100030 accessory ectopic thyroid tissue +HP:0007352 calcifications cerebellar +HP:0100036 looser zones +HP:0100036 fractures pseudo +HP:0007822 central exudate retinal +HP:0100034 motor tics +HP:0100035 tics vocal +HP:0100035 tics verbal +HP:0100035 phonic tics +HP:0030905 reflex snout +HP:0030902 palmomental reflex +HP:0001637 abnormality myocardium +HP:0001637 abnormal morphology myocardium +HP:0030903 grasp reflex +HP:0030903 grasp palmar reflex +HP:0009407 4th finger phalanges shaped triangular +HP:0009407 bone finger ring shaped triangular +HP:0001638 cardiomyopathy +HP:0001638 disease heart muscle +HP:0009405 bone bullet finger ring shaped +HP:0009405 4th bullet finger phalanges shaped +HP:0009404 4th broad finger phalanges +HP:0009404 bones broad finger ring +HP:0009403 4th epiphyses finger triangular +HP:0009403 bone end finger part ring triangular +HP:0009403 4th delta epiphyses finger shaped +HP:0009402 bone calcifications end finger part ring speckled +HP:0009402 4th epiphyses finger stippling +HP:0009401 4th epiphyses finger small +HP:0009401 bone end finger part ring small +HP:0001639 enlarged heart muscle thickened +HP:0001639 cardiomyopathy hypertrophic +HP:0030901 breast on pruritis +HP:0009408 absent bones finger ring underdeveloped +HP:0009408 4th aplasia finger hypoplasia phalanges +HP:0009408 absent bones finger ring small +HP:0001177 affecting polydactyly thumb +HP:0001177 hands polydactyly preaxial +HP:0001177 hand polydactyly preaxial +HP:0001177 polydactyly thumb +HP:0001177 supernumerary thumb +HP:0001177 extra thumb +HP:0001176 hand large +HP:0001176 hands large +HP:0001176 disproportionately hands large +HP:0001172 abnormality thumbs +HP:0001172 abnormal morphology thumb +HP:0001172 deformity thumb +HP:0001172 abnormality thumb +HP:0001171 hand split +HP:0001171 claw deformities hand +HP:0001171 ectrodactyly hand +HP:0001171 claw hand +HP:0001171 claw hands +HP:0001178 claw ulnar +HP:0020064 abnormal count eosinophil +HP:0020060 blood cell count decreased red +HP:0020061 abnormal concentration hemoglobin +HP:0020062 concentration decreased hemoglobin +HP:0020063 concentration hemoglobin increased +HP:0011129 bilateral fetal pyelectasia +HP:0011129 bilateral fetal pyelectasis +HP:0010652 abnormality dura mater +HP:0010652 abnormal dura mater morphology +HP:0032057 cortical dysplasia focal iiic type +HP:0030525 field loss moderate peripheral visual +HP:0030525 constriction field moderate peripheral visual +HP:0030526 field loss peripheral severe visual +HP:0030526 constriction field peripheral severe visual +HP:0030527 field loss peripheral severe very visual +HP:0030527 constriction field peripheral severe very visual +HP:0030520 binasal hemianopia +HP:0030521 bitemporal hemianopia +HP:0030522 field loss mild peripheral visual +HP:0030522 constriction field mild peripheral visual +HP:0100178 4th bone calcifications end outermost part speckled toe +HP:0100178 4th distal epiphysis phalanx stippling toe +HP:0030528 paracentral scotoma +HP:0030529 ring scotoma +HP:0005072 increased laxity wrists +HP:0005072 increased mobility wrist +HP:0005072 at hyperextensibility wrists +HP:0005070 dislocation head proximal radial +HP:0100523 abscess liver +HP:0100523 abscess hepatic +HP:0008743 coronal hypospadias +HP:0008743 hypospadias subcoronal +HP:0100525 fistula urachus +HP:0100174 4th distal epiphysis irregular phalanx toe +HP:0100174 4th bone end irregular outermost part toe +HP:0010654 aplasia cerebri falx +HP:0010654 absent cerebral falx +HP:0008740 septum vaginal vertical +HP:0008740 longitudinal septum vaginal +HP:0010500 hyperextensibility knee +HP:0010501 knee limitation mobility +HP:0010501 knee limited movement +HP:0010502 bowing fibular +HP:0010502 bone bowed calf +HP:0010503 bone calf duplicated +HP:0010503 duplication fibular +HP:0010504 increased length shankbone +HP:0010504 increased length shinbone +HP:0010504 increased length tibia +HP:0010505 ankles at limitation movement +HP:0010506 abnormal dermatoglyphics plantar +HP:0010506 abnormal dermatoglyphics feet on +HP:0010506 abnormal feet on prints +HP:0010507 asymmetry foot +HP:0010508 metatarsus valgus +HP:0010509 aplasia bones tarsal +HP:0010509 absent tarsals +HP:0010509 absent ankle bone +HP:0010058 absent big bone small toe +HP:0010058 aplasia hallux hypoplasia phalanges +HP:0010058 absent big bone toe underdeveloped +HP:0010059 big bone toe wide +HP:0010059 broad hallux phalanx +HP:0010059 broad hallux phalanges +HP:0010059 big bone broad toe +HP:0005216 chewing difficulties +HP:0005216 impaired mastication +HP:0005216 chewing difficulty +HP:0005217 duplication internal organs +HP:0005214 bowel obstruction +HP:0005214 intestinal obstruction +HP:0005214 blockage intestinal +HP:0005215 frequent giardia infestation lamblia +HP:0005212 anal leukoplakia mucosal +HP:0007029 aneurysm berry cerebral +HP:0007029 aneurysm cerebral saccular +HP:0005210 colon underdeveloped +HP:0005210 colon hypoplastic +HP:0005210 colon hypoplasia +HP:0005211 malrotation midgut +HP:0005218 anoperineal fistula +HP:0005219 absence factor intrinsic +HP:0005219 absent factor from gastric intrinsic juice +HP:0004035 abnormality process styloid ulna +HP:0004034 irregular olecranon +HP:0004037 abnormality epiphyseal plate ulna +HP:0004037 abnormality epiphyses ulnar +HP:0004036 long process styloid ulna +HP:0004031 broad diaphysis radial +HP:0004031 diaphysis radial wide +HP:0004030 diaphysis patchy radial sclerosis +HP:0004033 curved olecranon +HP:0004032 abnormality olecranon +HP:0004039 abnormality metaphysis ulnar +HP:0004038 bony epiphyseal plate spikule ulnar +HP:0010657 bone density mineral patchy reduction +HP:0031929 perivascular pseudorosette +HP:0031928 ependymal rosette true +HP:0031923 hematocolpos +HP:0031923 haematocolpos +HP:0031922 artery duplication renal +HP:0031922 artery double renal +HP:0031922 accessory artery renal +HP:0031921 calf myalgia +HP:0031921 gastrocnemius myalgia +HP:0031921 calf muscle pain +HP:0031920 cell granulosa malignant ovarian tumor +HP:0031927 flexner rosette wintersteiner +HP:0031926 homer rosette wright +HP:0031925 rosette +HP:0031924 rope sign +HP:0100657 eventration thoracoabdominal +HP:0100657 celosomia +HP:0100657 kelosomia +HP:0031381 lymphocyte mitogen proliferation reduced to +HP:0031381 decreased lymphocyte mitogen proliferation response to +HP:0030880 phenomenon raynaud s +HP:0030880 disease raynaud +HP:0030880 phenomenon raynaud +HP:0007406 brown eyelids +HP:0007406 eyelids pigmentation +HP:0007406 eyelids hyperpigmentation +HP:0007406 dark eyelids +HP:0011907 alpha beta ratio reduced synthesis +HP:0011906 alpha beta ratio reduced synthesis +HP:0011673 cardiac hemangioma +HP:0011672 cardiac myxoma +HP:0011903 hbh hemoglobin +HP:0011903 h hemoglobin +HP:0011902 abnormal hemoglobin +HP:0011901 dysfibrinogenemia +HP:0011901 dysfibrinogenaemia +HP:0011900 activity fibrinogen low +HP:0011900 fibrinogen level low +HP:0011900 hypofibrinogenemia +HP:0011679 fallot pulmonary stenosis tetralogy with +HP:0011678 aortopulmonary arteries atresia collateral fallot major pulmonary tetralogy with +HP:0003021 cupping metaphyseal +HP:0003020 enlargement wrists +HP:0003027 limbs mesomelic shortening +HP:0003027 limb mesomelic shortness symmetric +HP:0003027 disproportionately limb middle portion short +HP:0003027 limb mesomelic shortening +HP:0003027 mesomelia +HP:0003026 bone long shortening +HP:0003026 bone long short +HP:0003026 bones long shortened tubular +HP:0003026 bones short tubular +HP:0011909 flattened heads metacarpal +HP:0011909 bone flattened hand head long +HP:0011908 aplasia radial unilateral +HP:0002888 ependymoma +HP:0002882 apnea episodic sudden +HP:0002883 breathing rapid +HP:0002883 hyperventilation +HP:0011809 myotonia paradoxical +HP:0002886 glomus tumor vagale +HP:0002886 nerve tumors vagal +HP:0002886 paraganglioma vagal +HP:0002886 glomus paraganglioma vagale +HP:0002884 hepatoblastoma +HP:0002885 medulloblastoma +HP:0011803 bridge cleft nasal +HP:0011803 clefting indentation nose or +HP:0011803 bifid nose +HP:0011803 cleft nose +HP:0011803 bifid bridge nasal +HP:0011803 bridge indented nose +HP:0011015 abnormality blood concentration glucose +HP:0011014 abnormal glucose homeostasis +HP:0011017 abnormality cell physiology +HP:0011017 abnormal cellular physiology +HP:0011016 abnormality concentration glucose urine +HP:0011800 deficiency midface +HP:0011800 midface retrusion +HP:0011800 hypoplasia midface +HP:0011800 hypotrophic midface +HP:0011800 decreased midface size +HP:0011800 flat midface +HP:0011800 midface retrusive +HP:0011800 decreased midface projection +HP:0011800 midface underdevelopment +HP:0011800 midface small +HP:0011013 abnormality carbohydrate homeostasis metabolism +HP:0011012 abnormality metabolism polysaccharide +HP:0008435 absent bodies ossification utero vertebral +HP:0011018 abnormality cell cycle +HP:0009977 4th complete duplication finger partial phalanx proximal +HP:0009977 bone duplication finger proximal ring +HP:0009977 4th duplication finger phalanx proximal +HP:0009976 4th duplication finger middle phalanx +HP:0009976 bone complete duplication finger middle partial ring +HP:0009976 4th complete duplication finger middle partial phalanx +HP:0009975 4th distal duplication finger phalanx +HP:0009975 4th complete distal duplication finger partial phalanx +HP:0009975 bone complete duplication finger outermost partial ring +HP:0009974 4th duplication finger partial phalanges +HP:0009974 bones duplication finger partial ring +HP:0009973 4th complete duplication finger phalanges +HP:0009973 bones complete duplication finger ring +HP:0009972 4th duplication finger phalanx +HP:0009972 bones duplication finger ring +HP:0009972 4th complete duplication finger partial phalanges +HP:0009971 extra finger ring +HP:0009971 4th affecting finger polydactyly +HP:0009970 bone duplication finger middle partial proximal +HP:0009970 3rd duplication finger partial phalanx proximal +HP:0002088 abnormality lung morphology +HP:0002088 abnormally lung shaped +HP:0002088 disease lung +HP:0002088 lung shape unusal +HP:0002088 abnormality lungs +HP:0002088 abnormal lung morphology +HP:0002089 lung small +HP:0002089 hypoplasia pulmonary +HP:0002089 hypoplastic lungs +HP:0002089 hypoplastic lung +HP:0002089 hypoplasia lung +HP:0002089 lung underdeveloped +HP:0009979 bone complete duplication finger middle ring +HP:0009979 4th complete duplication finger middle phalanx +HP:0009978 bone complete duplication finger outermost ring +HP:0009978 4th complete distal duplication finger phalanx +HP:0030322 artery hypoplasia vertebral +HP:0030323 artery hypoplasia unilateral vertebral +HP:0030320 increased intervertebral space +HP:0030321 abnormal artery morphology vertebral +HP:0030321 abnormality artery vertebral +HP:0030326 abnormal count macrophage +HP:0030327 abnormal count osteoclast +HP:0500036 nasolacrimal papilloma sac +HP:0030325 cervicomedullary schisis +HP:0012285 abnormal hypothalamus physiology +HP:0012284 end innermost part shankbone small +HP:0012284 end innermost part shinbone small +HP:0012284 epiphyses proximal small tibial +HP:0030328 count decreased osteoclast +HP:0030329 retinal thinning +HP:0012281 chyloperitoneum +HP:0012281 ascites chylous +HP:0012280 amyloidosis hepatic +HP:0012283 distal epiphysis femoral small +HP:0012283 end outermost part small thighbone +HP:0012282 morbilliform rash +HP:0100201 4th epiphysis phalanx proximal toe triangular +HP:0100201 4th bone end innermost part toe triangular +HP:0008625 deafness sensorineural severe +HP:0008625 hearing loss sensorineural severe +HP:0008625 hearing impairment sensorineural severe +HP:0100203 bone bracket end outermost part pinkie shaped toe +HP:0100203 bone bracket end little outermost part shaped toe +HP:0100203 5th bracket distal epiphysis phalanx toe +HP:0100203 bone bracket end outermost part pinky shaped toe +HP:0100202 absent bone end outermost part pinkie toe +HP:0100202 absent bone end little outermost part toe +HP:0100202 absent bone end outermost part pinky toe +HP:0100202 5th absent distal epiphysis phalanx toe +HP:0100205 bone end enlarged little outermost part toe +HP:0100205 bone end enlarged outermost part pinkie toe +HP:0100205 5th distal enlarged epiphysis phalanx toe +HP:0100205 bone end enlarged outermost part pinky toe +HP:0100204 bone cone end outermost part pinky shaped toe +HP:0100204 5th cone distal epiphysis phalanx shaped toe +HP:0100204 bone cone end little outermost part shaped toe +HP:0100204 bone cone end outermost part pinkie shaped toe +HP:0100207 bone end irregular little outermost part toe +HP:0100207 5th distal epiphysis irregular phalanx toe +HP:0100207 bone end irregular outermost part pinkie toe +HP:0100207 bone end irregular outermost part pinky toe +HP:0100206 bone end fragmentation outermost part pinkie toe +HP:0100206 5th distal epiphysis fragmentation phalanx toe +HP:0100206 bone end fragmentation little outermost part toe +HP:0100206 bone end fragmentation outermost part pinky toe +HP:0100209 5th distal phalanx pseudoepiphysis toe +HP:0100208 bone density end increased outermost part pinkie toe +HP:0100208 5th distal epiphysis ivory phalanx toe +HP:0100208 bone density end increased outermost part pinky toe +HP:0100208 bone density end increased little outermost part toe +HP:0007108 demyelinating neuropathy peripheral +HP:0008629 pulsatile tinnitus +HP:0010244 abnormality epiphyses hand middle phalanges +HP:0010244 abnormality bones end hand middle part +HP:0500037 carcinoma epithelial nasolacrimal papillary sac +HP:0007678 duct lacrimal stenosis +HP:0007678 duct nasolacrimal stenosis +HP:0007678 duct narrowing tear +HP:0008437 bifid thoracic vertebrae +HP:0009352 bone density end finger increased innermost middle part +HP:0009352 3rd epiphysis finger ivory phalanx proximal +HP:0500034 nasolacrimal obstruction sac +HP:0008436 absent coccyx hypoplastic +HP:0008436 absent small tailbone +HP:0008436 absent tailbone underdeveloped +HP:0000207 mouth triangular +HP:0000207 mouth shaped triangular +HP:0000207 aperture oral shaped triangular +HP:0025359 calices polygonal +HP:0025359 calices polygonal shaped +HP:0025359 calices polygonal renal +HP:0025358 ectropion uveae +HP:0025358 ectropion uveal +HP:0025609 anterior blepharitis +HP:0025608 cicatricial ectropion +HP:0025607 entropion eyelid upper +HP:0025354 abnormal cellular phenotype +HP:0025357 fragmentary myoclonus +HP:0025357 erratic myoclonus +HP:0025604 orbital schwannoma +HP:0025351 interdigital mycosis recurrent +HP:0025351 interdigital recurrent tinea +HP:0025602 inferior muscle rectus restriction +HP:0025601 inferior muscle rectus weakness +HP:0025600 abnormal inferior muscle physiology rectus +HP:0010543 opsoclonus +HP:0002256 bowel diverticula small +HP:0012429 aplasia cerebral hypoplasia matter white +HP:0012429 absent cerebral matter small white +HP:0012429 absent cerebral matter underdeveloped white +HP:0012428 bone heel prominent +HP:0012428 calcaneus prominent +HP:0012421 absence foreskin +HP:0012421 aposthia +HP:0012421 absent foreskin +HP:0012420 amniotic fluid meconium staining +HP:0012420 amniotic fluid meconium stained +HP:0012423 colonic inertia +HP:0002254 diarrhea intermittent +HP:0012425 stercoral ulcer +HP:0012425 colon ulcer +HP:0012425 colon recto sigmoid stercoral ulcer +HP:0012424 chorioretinitis +HP:0500032 abnormal branching neuron +HP:0500032 abnormal branching neuronal +HP:0500032 aberrant branching neuronal +HP:0012426 disc drusen optic +HP:0025566 4 anterior cells chamber grade +HP:0025564 2 anterior cells chamber grade +HP:0031493 cell glandular neoplasm +HP:0007181 atrophy interosseous muscular +HP:0007181 atrophy interosseus muscle +HP:0031491 continuous during sleep slow spike waves +HP:0025565 3 anterior cells chamber grade +HP:0031497 carcinoma colorectal mucinous +HP:0031496 cystic mucinous neoplasm pancreas +HP:0031495 mucinous neoplasm +HP:0031494 mucinous neoplasm ovary +HP:0031494 mucinous ovarian tumor +HP:0006503 absent bones forearm underdeveloped +HP:0006503 absent bones forearm small +HP:0006503 aplasia bones forearm hypoplasia involving +HP:0025562 0 5 anterior cells chamber grade +HP:0031499 appendiceal mucinous neoplasm +HP:0031498 carcinoma gastric mucinous +HP:0006507 absent arm bone long underdeveloped upper +HP:0006507 aplasia humerus hypoplasia +HP:0006507 absent arm bone long small upper +HP:0006505 abnormal bones end limb part shape +HP:0006505 abnormality epiphyses involving limbs +HP:0006505 abnormality epiphysis limb morphology +HP:0025563 0 anterior cells chamber grade +HP:0430014 abnormality muscles palate soft +HP:0430014 abnormality musculature palate soft +HP:0430015 abnormality musculature pharyngeal +HP:0430015 abnormality musculature pharynx +HP:0430015 abnormality muscles pharynx +HP:0430016 abnormality muscle palatini tensor veli +HP:0430017 abnormality musculus uvulae +HP:0430017 abnormality muscle uvular +HP:0430010 microblepharia +HP:0430010 abnormally eyelid small +HP:0430011 conjunctiva defect palpebral +HP:0430012 bone formation incomplete palatine +HP:0430012 bone incomplete ossification palatine +HP:0430012 bone incomplete mineralization palatine +HP:0430012 bone calcification incomplete palatine +HP:0430013 absence bone formation palatine +HP:0430013 absence bone mineralization palatine +HP:0430013 absence bone calcification palatine +HP:0430013 absent bone ossification palatine +HP:0025561 1 anterior cells chamber grade +HP:0430018 abnormality muscle nose +HP:0430018 abnormality musculature nasal +HP:0430018 abnormality musculature nose +HP:0430019 abnormality expression facial musculature +HP:0430019 abnormality expression facial muscle +HP:0007182 hypomyelination peripheral +HP:0000905 acroosteolysis clavicle progressive +HP:0000905 acroosteolysis clavicular progressive +HP:0000904 anterior flaring ribs +HP:0000904 cage flaring rib +HP:0005429 infections pyogenic recurrent systemic +HP:0000900 ribs thickened +HP:0000902 fusion rib +HP:0000902 fused ribs +HP:0200046 cat cry +HP:0200046 associated chat cri cry de +HP:0200046 cat cry like +HP:0200047 cartilage inflammation pinna +HP:0200047 chondritis pinna +HP:0200044 porokeratosis +HP:0031146 bolus formation impaired oral +HP:0200042 skin ulcer +HP:0200042 open skin sore +HP:0200043 warts +HP:0200043 verrucae +HP:0031143 hypoechogenic liver +HP:0031143 decreased echogenicity hepatic +HP:0200041 erosion skin +HP:0006767 adenoma pituitary prolactin secreting +HP:0006767 pituitary prolactinoma +HP:0006767 adenoma cell pituitary prolactin +HP:0006766 carcinoma cell papillary renal +HP:0006765 chondrosarcoma +HP:0006763 anal canal carcinoma squamous +HP:0006762 carcinoma pelvic renal +HP:0200048 cyanotic episode +HP:0200049 hypertonia limb upper +HP:0011343 delay developmental global moderate +HP:0011343 moderate psychomotor retardation +HP:0012128 basal ganglia necrosis +HP:0100520 oliguria +HP:0006812 abnormalities mater periventricular posterior region white +HP:0009254 bone end finger fragmentation outermost part ring +HP:0009254 4th distal epiphysis finger fragmentation phalanx +HP:0031000 degeneration saccular vestibular +HP:0031001 formation minifascicle +HP:0031002 neuritis +HP:0031003 multiple neuritis +HP:0031003 polyneuritis +HP:0031004 hemiareflexia +HP:0031005 hyperalgesia +HP:0031006 acroparesthesia +HP:0031007 by dystonia induced jaw speaking +HP:0031007 action by dystonia induced orofacial specific speech +HP:0031008 dystonia lingual +HP:0031008 dystonia tongue +HP:0031009 dactylolysis spontanea +HP:0031009 ainhum +HP:0009924 hypotrophic nose +HP:0009924 decreased nose size +HP:0009924 decreased nasal size +HP:0009924 aplasia hypoplasia involving nose +HP:0009924 hypoplasia nose +HP:0001099 atrophy fundus +HP:0007670 abnormal ocular reflex vestibulo +HP:0007670 abnormal reflex vestibuloocular +HP:0040167 facial papilloma +HP:0040167 facial wart +HP:0040167 facial verruca +HP:0040166 abnormality periosteum +HP:0040165 periostalgia +HP:0040165 periostitis +HP:0040164 eyelids lipomas +HP:0040164 eyelids fatty on tumors +HP:0040163 abnormal bone morphology pelvis +HP:0040163 abnormal bone pelvis shape +HP:0040162 orthokeratosis +HP:0040161 localized osteoporosis +HP:0040160 generalized osteoporosis +HP:0040160 fractures generalized osteoporosis pathologic with +HP:0001096 keratoconjunctivitis +HP:0040169 anagen hair loose +HP:0040168 afebril focal seizures +HP:0040168 afebrile partial seizures +HP:0005689 abnormal dermatoglyphic ridges +HP:0011617 ambiguus pulmonary situs +HP:0001097 keratoconjunctivitis sicca +HP:0001097 keratitis sicca +HP:0001097 xerophthalmia +HP:0001097 dry eye syndrome +HP:0001097 dry eyes +HP:0011616 inversus pulmonary situs +HP:0005681 arthritis idiopathic juvenile +HP:0005681 arthritis juvenile rheumatoid +HP:0005680 deformities like lumbar tongue vertebral +HP:0005682 synostosis talocalcaneal +HP:0005682 foot fusion joint +HP:0005682 fusion joint subtalar +HP:0100614 inflammation muscle +HP:0100614 myositis +HP:0005687 arm bone deformed head long upper +HP:0005687 deformed heads humeral +HP:0005686 bone density increase uneven +HP:0005686 bone density increase mineral patchy +HP:0005686 osteosclerosis patchy +HP:0011388 aqueduct cochlear enlarged +HP:0011388 aqueduct cochlear dilated +HP:0008020 cone degeneration progressive +HP:0008020 cone dystrophy +HP:0008020 cone dystrophy progressive +HP:0011614 aortic arch c interrupted type +HP:0008026 horizontal nystagmus opticokinetic +HP:0100612 odontogenic tumor +HP:0100612 neoplasm odontogenic +HP:0008028 cystic degeneration macular +HP:0008028 cystoid degeneration macular +HP:0011344 psychomotor retardation severe +HP:0011344 delay developmental global severe +HP:0009212 5th epiphysis finger middle phalanx stippling +HP:0009212 bone calcifications end finger middle part pinky speckled +HP:0009212 bone calcifications end finger middle part pinkie speckled +HP:0009212 bone calcifications end finger little middle part speckled +HP:0004621 enlarged pedicles vertebral +HP:0004622 intervertebral narrowing progressive space +HP:0009211 5th epiphysis finger middle phalanx small +HP:0009211 bone end finger middle part pinkie small +HP:0009211 bone end finger middle part pinky small +HP:0009211 bone end finger little middle part small +HP:0009216 4th cone epiphysis finger middle phalanx shaped +HP:0009216 bone cone end finger middle part ring shaped +HP:0009217 4th enlarged epiphysis finger middle phalanx +HP:0009217 bone end enlarged finger middle part ring +HP:0004626 lumbar scoliosis +HP:0009215 bone bracket end 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stem +HP:0011245 abnormality antihelix crus superior +HP:0011245 abnormality antihelix crus posterior +HP:0011246 antihelix crus superior underdeveloped +HP:0011246 antihelix crus hypoplastic superior +HP:0011246 antihelix crus hypotrophic superior +HP:0011247 antihelix crus prominent superior +HP:0011247 antihelix crus hyperplastic superior +HP:0011247 antihelix crus hypertrophic superior +HP:0011248 antitragus everted +HP:0011249 absent antitragus +HP:0011618 ambiguus bilateral lungs morphologic pulmonary right situs with +HP:0007262 demyelination peripheral symmetric +HP:0004484 craniofacial malformation shape +HP:0004484 craniofacial structures uneven +HP:0004484 asymmetry craniofacial +HP:0004484 abnormality craniofacial shape +HP:0004485 growing head stopped +HP:0004485 cranium growing stopped +HP:0004485 growing skull stopped +HP:0004485 cessation growth head +HP:0004487 acrobrachycephaly +HP:0004481 macrocephaly progressive +HP:0004481 abnormally cranium enlarging progressively 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choanal +HP:0004502 bilateral blockage cavity nasal opening rear +HP:0100527 neoplasia pleura +HP:0010409 2nd bone density increase middle toe uneven +HP:0010409 2nd middle patchy phalanx sclerosis toe +HP:0009106 abnormal bone maturation pelvis +HP:0009106 abnormal bone ossification pelvis +HP:0009106 abnormal bones involving ossification pelvis +HP:0009693 pseudoepiphysis thumb +HP:0009693 pseudoepiphyses thumb +HP:0011619 ambiguus bilateral left lungs morphologic pulmonary situs with +HP:0005132 constriction pericardial +HP:0410219 hypoplasia mandible maxilla relative to +HP:0410219 arch dental disorder mandibular maxillary relationship +HP:0010408 2nd defects middle osteolytic phalanx toe +HP:0010896 hypersarcosinemia +HP:0010896 high levels plasma sarcosine +HP:0010269 bones bracket end hand innermost part shaped +HP:0010269 bracket epiphyses hand phalanges proximal +HP:0010268 absent epiphyses hand phalanges proximal +HP:0010268 absent bones end hand innermost part +HP:0002505 inability progressive to walk +HP:0002504 brain calcification small vessels +HP:0002503 degeneration spinocerebellar tract +HP:0002503 degeneration spinocerebellar +HP:0002503 degeneration spinocerebellar tracts +HP:0002501 muscles pharyngeal spasticity +HP:0007267 axonal chronic neuropathy sural +HP:0007267 axonal chronic neuropathy +HP:0010261 epiphyses fragmentation hand middle phalanges +HP:0010261 bones end fragmentation hand middle part +HP:0010260 enlarged epiphyses hand middle phalanges +HP:0010260 bones end enlarged hand middle part +HP:0010263 epiphyses hand ivory middle phalanges +HP:0010263 bone bones density end hand increased middle part +HP:0010262 epiphyses hand irregular middle phalanges +HP:0010262 bones end hand irregular middle part +HP:0010265 bones end hand middle part small +HP:0010265 epiphyses hand middle phalanges small +HP:0010264 hand middle phalanges pseudoepiphyses +HP:0010267 epiphyses hand middle phalanges triangular +HP:0010267 bones end hand middle 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bone pelvis square +HP:0003278 off pelvis squared +HP:0003278 pelvis square +HP:0003279 coxa magna +HP:0010894 abnormality acid amino family metabolism serine +HP:0003514 absence b cytochrome deficiency or +HP:0003514 245 absence b cytochrome deficiency or +HP:0010615 angiofibromas +HP:0100193 4th cone epiphysis phalanx proximal shaped toe +HP:0100193 4th bone cone end innermost part shaped toe +HP:0200125 chain defects mitochondrial respiratory +HP:0011557 double indeterminate inlet morphology single to ventricle +HP:0012384 rhinitis +HP:0012384 inflammation nasal +HP:0005999 atresia ureteral +HP:0200008 intestinal multiple polyps +HP:0200008 intestinal polyposis +HP:0200008 gastrointestinal polyps +HP:0012385 finger flexion or permanent toe +HP:0012385 camptodactyly +HP:0005995 adipose around decreased neck tissue +HP:0005995 around fat loss neck +HP:0005995 adipose around loss neck tissue +HP:0005994 goiter nodular +HP:0005997 contracture flexion neck +HP:0005997 contractures due 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increased urate +HP:0410199 concentration csf elevated urate +HP:0410199 concentration csf increased urate +HP:0410198 4 activity blood cells decreased diphosphate epimerase glucose red uridine +HP:0410198 4 activity blood cells decreased epimerase glucose red udp +HP:0008631 dysgenesis ureteral +HP:0410196 4 abnormal activity blood cells epimerase glucose red udp +HP:0410196 4 abnormal activity blood cells diphosphate epimerase glucose red uridine +HP:0410195 4 activity decreased epimerase glucose plasma udp +HP:0410195 4 activity decreased diphosphate epimerase glucose plasma uridine +HP:0410194 4 activity epimerase glucose increased plasma udp +HP:0410194 4 activity diphosphate epimerase glucose increased plasma uridine +HP:0410193 4 abnormal activity epimerase glucose plasma udp +HP:0410193 4 abnormal activity diphosphate epimerase glucose plasma uridine +HP:0410192 4 abnormal activity epimerase glucose udp +HP:0410192 4 abnormal activity diphosphate epimerase glucose uridine +HP:0410191 g6pd increased leukocytes level +HP:0410191 6 dehydrogenase glucose increased leukocytes level phosphate +HP:0410190 decreased g6pd leukocytes level +HP:0410190 6 decreased dehydrogenase glucose leukocytes level phosphate +HP:0012634 dispersion iris pigment +HP:0100955 cell giant granuloma mandible +HP:0012636 occlusion retinal vein +HP:0012637 calcium renal wasting +HP:0012637 calcium kidney wasting +HP:0012630 abnormal meshwork morphology trabecular +HP:0012630 abnormality meshwork trabecular +HP:0012631 deposition meshwork pigment trabecular +HP:0012632 abnormal intraocular pressure +HP:0012632 abnormal eye pressure +HP:0100954 open operculum +HP:0007597 keratodermia palmoplantar +HP:0007596 lipomas painful subcutaneous +HP:0007596 fat noncancerous painful skin tissue tumor under +HP:0007595 infancy redundant skin +HP:0007595 excess infancy skin +HP:0012638 abnormality nervous physiology system +HP:0012639 abnormal morphology nervous system +HP:0012639 abnormality morphology nervous system +HP:0012639 abnormal nervous shape system +HP:0010891 juvenile osteochondrosis spine +HP:0010891 disease s sherman +HP:0010891 kyphosis scheuermann +HP:0010891 morbus scheuermann +HP:0010891 disease scheuermann +HP:0010891 calve disease +HP:0006970 leukomalacia periventricular +HP:0006976 encephalopathy necrotizing +HP:0006977 disorder grammar specific speech +HP:0006978 dysmyelinating leukodystrophy +HP:0006979 cycle disturbance sleep wake +HP:0010400 2nd patchy phalanx proximal sclerosis toe +HP:0010400 2nd bone density increase innermost toe uneven +HP:0030159 cervical tumor +HP:0030159 cervical polyp +HP:0030158 cervical ectopy +HP:0030158 cervical erosion +HP:0030158 cervical ectropion +HP:0001156 fingers or short toes +HP:0001156 brachydactyly +HP:0001156 brachydactyly syndrome +HP:0030151 bile duct inflammation +HP:0030151 cholangitis +HP:0030150 plasmacytosis +HP:0030153 cholangiocarcinoma +HP:0030153 bile cancer duct +HP:0030155 pain scrotal 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vertebrae +HP:0003468 anomalies multiple vertebral +HP:0003468 anomalies vertebral +HP:0003468 abnormal morphology vertebral +HP:0003468 abnormal vertebrae +HP:0007377 abnormality sseps +HP:0007377 abnormality evoked potentials somatosensory +HP:0007344 atrophic changes cord degenerative spinal +HP:0007344 atrophy cord degeneration involving spinal +HP:0025018 abnormal capillary physiology +HP:0025019 arterial rupture +HP:0010405 2nd bone broad middle toe +HP:0010405 2nd broad middle phalanx toe +HP:0025012 cribrosum status +HP:0025013 decerebrate rigidity +HP:0025013 decerebrate posturing +HP:0025010 atrophy foveal +HP:0025011 aperture pyriform stenosis +HP:0025016 abnormal capillary morphology +HP:0025017 capillary fragility +HP:0025014 spheroids subcutaneous +HP:0025015 abnormal morphology vascular +HP:0100244 fibrosarcoma +HP:0031045 acral blistering +HP:0025386 bitemporal hollowing +HP:0030753 after demise fetal intrauterine midgestation one twin +HP:0030753 demise single twin 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insufficient pulmonary response short to vasodilator +HP:0010078 big bone bullet outermost shaped toe +HP:0010078 bullet distal hallux phalanx shaped +HP:0010079 big bone curved outermost toe +HP:0010079 curved distal hallux phalanx +HP:0005236 calcifying chronic pancreatitis +HP:0005237 degenerative disease liver +HP:0040128 abnormal electrolytes sweat +HP:0009113 diaphragmatic weakness +HP:0009113 diaphragmatic paraparesis +HP:0009113 diaphragmatic diminished motion +HP:0009113 diaphragm weak +HP:0200005 abnormal between eyelids opening shape +HP:0200005 abnormal fissure morphology palpebral +HP:0200005 abnormal fissure palpebral shape +HP:0010388 bone density increase pinkie toe uneven +HP:0010388 bone density increase little toe uneven +HP:0010388 bone density increase pinky toe uneven +HP:0010388 5th patchy phalanges sclerosis toe +HP:0010388 5th patchy phalanx sclerosis toe +HP:0010389 bones fused pinkie toe +HP:0010389 bones fused pinky toe +HP:0010389 bones fused little toe 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bacterial infection skin +HP:0007076 extrapyramidal muscular rigidity +HP:0410282 abnormal amylase circulating level +HP:0011653 committed dorv non pulmonary stenosis vsd with +HP:0011653 committed defect double non outlet pulmonary right septal stenosis ventricle ventricular with +HP:0100653 neuritis optic +HP:0100650 neoplasm vaginal +HP:0100650 tumor vaginal +HP:0100650 neoplasia vaginal +HP:0100651 1 diabetes type +HP:0100651 dependent diabetes insulin mellitus +HP:0100651 diabetes i mellitus type +HP:0100651 diabetes juvenile mellitus +HP:0100651 diabetes i type +HP:0011657 dorv pulmonary stenosis subpulmonary vsd with +HP:0011657 defect double outlet pulmonary right septal stenosis subpulmonary ventricle ventricular with +HP:0410281 indigestion +HP:0410281 dyspepsia +HP:0100654 neuritis optic retrobulbar +HP:0100654 neuritis retrobulbar +HP:0011654 defect double noncommitted outlet right septal ventricle ventricular +HP:0011654 committed dorv non pulmonary stenosis vsd with without +HP:0011654 committed defect double non outlet pulmonary right septal stenosis ventricle ventricular with without +HP:0011385 absent auditory canal internal +HP:0011384 abnormality acoustic internal meatus +HP:0011384 abnormality auditory canal internal +HP:0011387 aqueduct vestibular widened +HP:0011387 aqueduct enlarged vestibular +HP:0011387 aqueduct dilated vestibular +HP:0011386 auditory canal internal narrow +HP:0011381 aplasia canal semicircular +HP:0011381 absent canal semicircular +HP:0011380 abnormality canal morphological semicircular +HP:0011383 canal dilated semicircular +HP:0011383 canal enlarged semicircular +HP:0011382 canal hypoplasia semicircular +HP:0011382 canals hypoplasia semicircular +HP:0011382 canal semicircular small +HP:0004017 exostoses metaphysis radial +HP:0009020 exercise fatigue induced muscle +HP:0009023 abdominal lax musculature +HP:0009023 abdominal muscle wall weakness +HP:0004014 epiphyseal plates radial wide +HP:0004014 broad epiphyseal plate radial +HP:0009025 connective increased tissue +HP:0003040 disease joints +HP:0003040 arthropathy +HP:0009027 dorsiflexor foot weakness +HP:0009027 footdrop +HP:0009027 drop foot +HP:0009027 extensor foot weakness +HP:0009026 dorsi hypoplasia latissimus muscle +HP:0002312 clumsiness +HP:0002313 paraparesis spastic +HP:0010928 abnormality acid metabolism orotic +HP:0010929 abnormality cation homeostasis +HP:0002317 gait instability +HP:0002317 unsteady walk +HP:0002317 gait unsteady +HP:0002314 corticospinal degeneration lateral tracts +HP:0002315 headache +HP:0002315 headaches +HP:0010922 cataract membranous +HP:0010923 anterior cataract subcapsular +HP:0010920 cataract zonular +HP:0010921 cataract coralliform +HP:0010926 cataract fasciculiform +HP:0010926 aculeiform cataract +HP:0010926 cataract frosted +HP:0010926 cataract needle shaped +HP:0010927 abnormality cation divalent homeostasis inorganic +HP:0010924 cataract cortical posterior +HP:0010925 cataract nuclear punctate +HP:0012700 abnormal intestine large physiology +HP:0410020 fish odour +HP:0410020 body fishy odor +HP:0410020 fish odor +HP:0410020 fishy odor +HP:0012701 fecal urgency +HP:0012701 bowel urgency +HP:0012702 tenesmus +HP:0012703 abnormality space subarachnoid +HP:0011039 abnormality helix +HP:0011039 abnormal helix +HP:0011039 abnormal helices +HP:0011038 abnormality renal resorption +HP:0011037 decreased output urine +HP:0012256 absent arms dynein outer +HP:0011035 abnormality cortex morphology renal +HP:0011034 amyloidosis +HP:0011034 amyloid disease +HP:0011033 fructose impairment metabolism +HP:0011032 abnormality fluid regulation +HP:0011032 fluid imbalance +HP:0011031 abnormality homeostasis iron +HP:0012705 abnormal brain by imaging metabolic mrs +HP:0012706 brain by choline elevated level mrs +HP:0012707 brain by elevated lactate level mrs +HP:0030304 abnormal number vertebrae +HP:0030305 decreased number vertebrae +HP:0100229 bone end innermost irregular part pinkie toe +HP:0100229 bone end innermost irregular part pinky toe +HP:0100229 bone end innermost irregular little part toe +HP:0100229 5th epiphysis irregular phalanx proximal toe +HP:0100228 bone end fragmentation innermost part pinky toe +HP:0100228 bone end fragmentation innermost little part toe +HP:0100228 5th epiphysis fragmentation phalanx proximal toe +HP:0100228 bone end fragmentation innermost part pinkie toe +HP:0030300 10 pairs ribs +HP:0030301 abnormality anterior commissure +HP:0030302 agenesis anterior commissure +HP:0030303 anterior commissure hypoplastic +HP:0007166 dyskinesia paroxysmal +HP:0007166 choreiform dystonic involuntary movements or +HP:0100222 bone calcifications end innermost little part speckled toe +HP:0100222 bone calcifications end innermost part pinky speckled toe +HP:0100222 5th epiphysis middle phalanx stippling toe +HP:0100222 bone calcifications end innermost part pinkie speckled toe +HP:0007164 slowed slurred speech +HP:0100220 5th middle phalanx pseudoepiphysis toe +HP:0030308 flared metaphysis outermost shinbone +HP:0030308 flared metaphysis outermost shankbone +HP:0030308 distal flared metaphysis tibial +HP:0100226 bone cone end innermost part pinkie shaped toe +HP:0100226 bone cone end innermost part pinky shaped toe +HP:0100226 bone cone end innermost little part shaped toe +HP:0100226 5th cone epiphysis phalanx proximal shaped toe +HP:0100225 bone bracket end innermost part pinkie shaped toe +HP:0100225 bone bracket end innermost little part shaped toe +HP:0100225 5th bracket epiphysis phalanx proximal toe +HP:0100225 bone bracket end innermost part pinky shaped toe +HP:0100224 absent bone end innermost part pinky toe +HP:0100224 absent bone end innermost part pinkie toe +HP:0100224 5th absent epiphysis phalanx proximal toe +HP:0100224 absent bone end innermost little part toe +HP:0025376 hyperglutaminuria +HP:0025375 odontoideum orthotopic os +HP:0025374 duplicated odontoid process +HP:0025373 abnormality eeg interictal +HP:0100885 servelle vein +HP:0100885 lateral marginal servelle vein +HP:0100885 anomaly lateral venous +HP:0025371 delayed ossification sacrum +HP:0025370 abnormal ossification sacrum +HP:0025379 anti antibody peroxidase positivity thyroid +HP:0008452 platyspondyly thin wafer +HP:3000077 abnormality condylar mandible process +HP:3000077 abnormal condylar mandible morphology process +HP:0012403 2 decreased oxoglutarate urinary +HP:0012403 alpha concentration decreased ketoglutarate urine +HP:0012402 2 elevated oxoglutarate urinary +HP:0012402 alpha concentration increased ketoglutarate urine +HP:0012401 abnormality alpha concentration ketoglutarate urine +HP:0012401 2 abnormal level oxoglutarate urinary +HP:0012401 abnormal alpha concentration ketoglutarate urine +HP:0012400 abnormal aldolase level +HP:0012407 scissor walk +HP:0012407 gait scissor +HP:0012407 gait scissors +HP:0012406 citrate concentration increased urine +HP:0012406 hypercitraturia +HP:0012405 citrate concentration decreased urine +HP:0012405 hypocitraturia +HP:0012404 abnormal citrate concentration urine +HP:0012404 abnormal acid citric concentration urine +HP:0012409 cortical nephrocalcinosis +HP:0012408 medullary nephrocalcinosis +HP:0001644 heart muscle stretched thinned +HP:0001644 cardiomyopathy congestive +HP:0001644 cardiomyopathy dilated +HP:0005304 lung underdeveloped veins +HP:0005304 hypoplastic pulmonary veins +HP:0005249 functional intestinal obstruction +HP:0006568 content glycogen hepatic increased +HP:0006568 content glycogen increased liver +HP:0010084 distal duplication hallux phalanx +HP:0010084 big bone duplication outermost toe +HP:0010084 complete distal duplication hallux partial phalanx +HP:0006565 droplets hepatocellular increased lipid +HP:0006564 fluctuating hepatomegaly +HP:0006566 cholestatic disease liver neonatal +HP:0006561 accumulation hepatocytes lipid +HP:0006560 biliary hyperplasia +HP:0006560 bile duct hyperplasia +HP:0006563 ductal hepatic malformation plate 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+HP:0031165 multifocal onset seizures +HP:0031165 multifocal seizures +HP:0031164 harris lines +HP:0031164 growth lines resumption +HP:0031164 arrest growth lines +HP:0031163 bone density femur low +HP:0031163 bone density femoral low +HP:0031162 impaired oropharyngeal response swallow +HP:0031161 brain by glutamate level mrs reduced +HP:0200067 abortion recurrent spontaneous +HP:0006781 adenoma cell hurthle thyroid +HP:0006780 carcinoma parathyroid +HP:0006780 cancer parathyroid +HP:0006783 cleft pharyngeal posterior +HP:0006782 eosinophil malignant proliferation +HP:0006785 dystrophy girdle limb muscular +HP:0006784 decreased paranasal pneumatization sinus +HP:0006784 decreased paranasal sinus volume +HP:0006784 paranasal sinus underdevelopment +HP:0006784 decreased paranasal sinus size +HP:0006784 decreased growth paranasal sinus +HP:0006784 hypotrophic paranasal sinus +HP:0006784 hypoplasia paranasal sinus +HP:0006784 paranasal sinus small +HP:0006784 atelectasis paranasal sinus +HP:0006789 encephalopathy mitochondrial +HP:0010089 defects hallux osteolytic phalanx proximal +HP:0010088 big bone curved innermost toe +HP:0010088 curved hallux phalanx proximal +HP:0005247 abdominal hypoplasia muscular +HP:0005247 abdominal hypoplasia musculature wall +HP:0012195 irregular respiratory rhythm +HP:0012195 irregular respiration +HP:0005246 disease menetrier +HP:0005246 gastritis giant hypertrophic +HP:0031771 epicanthus tarsalis +HP:0006930 cortical dysplasia frontoparietal +HP:0005421 c3 complement decreased serum +HP:0005421 c3 decreased serum +HP:0005421 c3 complement decreased level serum +HP:0100050 2nd epiphyses ivory toe +HP:0100050 2nd bone density end increased part toe +HP:0003016 metaphyseal widening +HP:0003016 metaphyses wide +HP:0003016 bone long metaphyses widened +HP:0003016 bone broad long portion wide +HP:0003016 metaphyses widened +HP:0031775 neurogenic strabismus +HP:0031775 paralytic strabismus +HP:0008213 deficiency gonadotropin +HP:0008213 deficiency gonadotropin pituitary +HP:0003606 absent urinary urothione +HP:0008454 kyphosis lumbar +HP:0008454 back lower rounded +HP:0008454 deformity gibbus lumbar +HP:0010732 eyelid nodules +HP:0010732 affecting changes eyelids nodular +HP:0001032 absent creases distal interphalangeal +HP:0001032 absence creases distal interphalangeal joints over skin +HP:0001032 aplasia creases distal interphalangeal +HP:0001032 absent creases distal finger flexion +HP:0001033 after alcohol facial flushing intake +HP:0001030 fragile skin +HP:0001030 fragility skin +HP:0001031 lipoma subcutaneous +HP:0001788 membranes premature rupture +HP:0001789 fetalis hydrops +HP:0001034 hyperpigmented macules +HP:0001034 hypermelanotic macule +HP:0001034 hyperpigmented spots +HP:0001034 hyperpigmented patches skin +HP:0001785 ankle swelling +HP:0001786 feet slender +HP:0001786 foot narrow +HP:0001039 atheroeruptive xanthoma +HP:0001780 abnormalities toes +HP:0001780 abnormality toe +HP:0001782 bulbous tips toes +HP:0001783 metatarsal shaft widened +HP:0001783 broad metatarsal +HP:0001783 broad metatarsals +HP:0001783 bone foot long wide +HP:0030296 chondromatosis metaphyseal radius +HP:0010977 abnormality phagocytes +HP:0000252 cranium small +HP:0000252 cranium decreased size +HP:0000252 calvarium small +HP:0000252 abnormally head small +HP:0000252 head small +HP:0000252 abnormally skull small +HP:0000252 abnormally cranium small +HP:0000252 decreased size skull +HP:0000252 circumference cranium decreased +HP:0000252 circumference head reduced +HP:0000252 microcephaly +HP:0000252 circumference head small +HP:0000252 decreased head size +HP:0000252 skull small +HP:0000255 acute sinusitis +HP:0000256 macrocephaly +HP:0000256 head large +HP:0000256 head increased size +HP:0000256 big calvaria +HP:0000256 big head +HP:0000256 cranium increased size +HP:0000256 big skull +HP:0000256 large skull +HP:0000256 circumference head large +HP:0000256 cranium large +HP:0000256 calvaria large +HP:0000256 macrocrania +HP:0000256 increased size skull +HP:0000256 big cranium +HP:0000256 megacephaly +HP:0030294 chondromatosis metaphyseal tibia +HP:0100821 urethrocele +HP:0100820 diseased glomeruli +HP:0100820 glomerulopathy +HP:0500148 abnormality glutamate metabolism +HP:0500149 hyperglutamatemia +HP:0500149 blood concentration glutamate increased +HP:0500149 blood glutamate high levels +HP:0100825 lips red sore +HP:0100825 cheilitis +HP:0100825 inflammation lips +HP:0008001 foveal hyperpigmentation +HP:0100827 lymphocytosis +HP:0100827 count high lymphocyte +HP:0100826 nail neoplasm +HP:0100826 nail tumor +HP:0500142 blood decreased lysine +HP:0500142 hypolysinemia +HP:0500142 blood levels low lysine +HP:0500143 hypoleucinemia +HP:0500143 blood concentration decreased leucine +HP:0500143 blood leucine levels low +HP:0500140 blood hydroxyproline level low +HP:0500140 decreased hydroxyprolinemia +HP:0500140 blood decreased hydroxyproline +HP:0003022 hypoplasia ulna +HP:0003022 bone forearm inner large underdeveloped +HP:0003022 hypoplasia ulnar +HP:0003022 short ulna +HP:0003022 short ulnae +HP:0003022 hypoplastic ulna +HP:0003022 ulna underdeveloped +HP:0500147 blood glutamine level low +HP:0500147 hypoglutaminemia +HP:0500147 blood concentration decreased glutamine +HP:0500144 blood isoleucine levels low +HP:0500144 hypoisoleucinemia +HP:0500144 blood concentration decreased isoleucine +HP:0500145 hypohistidinemia +HP:0500145 blood histidine levels low +HP:0500145 blood concentration decreased histidine +HP:0010976 b cell lymphopenia +HP:0010976 b lymphocytopenia +HP:0010976 b cell number reduction +HP:0010976 b cell count low +HP:0500054 4a prematurity retinopathy stage +HP:0500054 4a rop stage +HP:0009237 fifth finger short +HP:0009237 finger hypoplastic little small +HP:0009237 5th finger hypoplastic small +HP:0009237 finger hypoplastic little phalanges +HP:0009237 finger pinkie short +HP:0009237 5th finger short +HP:0009237 finger little phalanges short +HP:0009237 fifth fingers short +HP:0009237 brachydactyly fifth finger +HP:0009237 finger little short +HP:0009237 finger pinky short +HP:0009230 5th defects finger osteolytic phalanx proximal +HP:0009231 bone density finger increase innermost pinky uneven +HP:0009231 5th finger patchy phalanx proximal sclerosis +HP:0009231 bone density finger increase innermost pinkie uneven +HP:0009231 bone density finger increase innermost little uneven +HP:0009232 bone finger fused innermost little +HP:0009232 bone finger fused innermost pinkie +HP:0009232 5th affecting finger phalanx proximal symphalangism +HP:0009232 bone finger fused innermost pinky +HP:0009233 bone finger innermost pinkie shaped triangular +HP:0009233 bone finger innermost pinky shaped triangular +HP:0009233 bone finger innermost little shaped triangular +HP:0009233 5th finger phalanx proximal shaped triangular +HP:0008598 conductive hearing impairment mild +HP:0008598 conductive hearing loss mild +HP:0012660 fdg hypometabolism pet thalamic +HP:0009238 absent finger pinkie +HP:0009238 absent finger pinky +HP:0009238 absent finger little +HP:0009238 5th aplasia finger +HP:0009239 absent bone finger outermost pinky small +HP:0009239 absent bone finger little outermost small +HP:0009239 absent bone finger outermost pinkie small +HP:0009239 absent bone finger outermost pinky underdeveloped +HP:0009239 5th aplasia distal finger hypoplasia phalanx +HP:0030483 a adapted amplitude bright dark electroretinogram flash reduced wave +HP:0030482 abnormal adapted electroretinogram flash light single timing +HP:0030481 abnormal adapted amplitude electroretinogram flash light single +HP:0030952 birdshot choroidal lesions +HP:0030487 abnormal electroretinogram n95 p50 pattern ratio +HP:0030486 abnormal electroretinogram pattern timing +HP:0030485 abnormal amplitude electroretinogram pattern +HP:0030484 adapted b bright dark electroretinogram flash supernormal wave +HP:0030959 aneurysm muscular septum ventricular +HP:0030959 aneurysm muscular septal ventricular +HP:0030958 aneurysm membranous septum ventricular +HP:0030958 aneurysm interventricular membranous part septum +HP:0030958 aneurysm membranous septal ventricular +HP:0030489 abnormal electroretinogram multifocal paracentral response +HP:0030488 abnormal central electroretinogram multifocal response +HP:0001258 limb lower paraplegia spastic +HP:0001258 paraplegia spastic +HP:0000075 duplication renal +HP:0000075 extra kidney +HP:0000075 kidney supernumerary +HP:0000074 junction obstruction ureteropelvic +HP:0000074 junction obstruction pelviureteric +HP:0000077 anomalies renal +HP:0000077 abnormality kidney +HP:0000077 abnormal kidney +HP:0000077 anomaly renal +HP:0100798 dysplastic fingernails +HP:0100798 dysplasia fingernail +HP:0100798 abnormal development fingernail +HP:0000071 stenosis ureteral +HP:0000071 narrowing ureter +HP:0005550 chronic leukemia lymphatic +HP:0005550 chronic leukemia lymphocytic +HP:0000073 duplication ureteral +HP:0000073 double ureter +HP:0000072 uroureter +HP:0000072 megaureter +HP:0000072 hydroureter +HP:0000072 dilatation ureteral +HP:0000072 swelling ureter +HP:0100792 acantholysis +HP:0100792 nikolsky s sign +HP:0100790 hernia +HP:0100790 hernias +HP:0005559 abnormality kallikrein kinin system +HP:0005558 blood cancer chronic +HP:0005558 chronic leukemia +HP:0100795 abnormally spine straight +HP:0025535 shawl sign +HP:0030298 chondromatosis humerus metaphyseal +HP:0007521 back hyperpigmentation irregular +HP:0500056 5 rop stage +HP:0500056 5 prematurity retinopathy stage +HP:0009373 brachydactyly c type +HP:0100596 missing nostrils +HP:0100596 aplasia hypoplasia nares +HP:0100596 absent nares +HP:0100596 aplasia nares +HP:0100596 abouphalia +HP:0500057 5a prematurity retinopathy stage +HP:0500057 5a rop stage +HP:0006659 internally rotated shoulders +HP:0100085 bone end part pinkie small toe +HP:0100085 5th epiphyses small toe +HP:0100085 bone end little part small toe +HP:0100085 bone end part pinky small toe +HP:0009169 5th finger middle phalanx wide +HP:0009169 bone broad finger little middle +HP:0009169 bone broad finger middle pinkie +HP:0009169 5th broad finger middle phalanx +HP:0009169 bone broad finger middle pinky +HP:3000023 abnormality angular artery +HP:0100777 exostoses +HP:0003787 1 2 fiber minicore muscle regions type +HP:0003784 1 collagen overmodification type +HP:0011207 2 activity eeg generalized grade slow with +HP:0032089 aortic fibrosis medial +HP:0032088 aortic cell disorganization muscle smooth +HP:0011288 eeg parietal sharp slow waves with +HP:0008007 glaucoma primary +HP:0032084 aortic elastic fiber thinning +HP:0500050 1 prematurity retinopathy stage +HP:0500050 1 rop stage +HP:0032086 aortic cell loss muscle nuclei smooth +HP:0032081 accumulation extracellular intralamellar matrix mucoid +HP:0032083 aortic elastic fiber fragmentation +HP:0002942 kyphosis thoracic +HP:0002942 exaggerated kyphosis thoracic +HP:0002942 accentuated kyphosis thoracic +HP:0100422 duplication partial phalanx proximal third toe +HP:0100422 3rd bone duplication innermost partial toe +HP:0100422 3rd duplication partial phalanx proximal toe +HP:0010342 abnormality bones pinkie toe +HP:0010342 abnormality bones pinky toe +HP:0010342 5th abnormality phalanges toe +HP:0010342 abnormality bones little toe +HP:0003498 disproportionate severe short stature +HP:0003498 disproportionate short stature +HP:0010711 first second toes webbed +HP:0010711 1 2 syndactyly toe +HP:0010885 bone ischemic necrosis +HP:0010885 osteonecrosis +HP:0010885 avascular necrosis +HP:0010885 osteochondronecrosis +HP:0010885 aseptic bone necrosis +HP:0010885 aseptic necrosis +HP:0010885 bone infarction +HP:0010885 blood bone death decreased due supply to +HP:0010241 phalanges proximal short +HP:0010241 phalanges proximal shortening +HP:0010241 hand hypoplasia phalanges proximal +HP:0010241 finger phalanx proximal short +HP:0010241 bones finger innermost short +HP:0010712 1 4 syndactyly toe +HP:0010712 first fourth through toes webbed +HP:0010715 2nd 5th toes webbed +HP:0010715 2 5 syndactyly toe +HP:0011289 eeg sharp slow temporal waves with +HP:0010717 osseous syndactyly toes +HP:0010336 4th abnormality phalanges toe +HP:0500051 2 prematurity retinopathy stage +HP:0500051 2 rop stage +HP:0500047 lymphoma nasolacrimal sac +HP:0010249 bones end enlarged hand outermost part +HP:0010249 distal enlarged epiphyses hand phalanges +HP:0010248 bones cone end hand outermost part shaped +HP:0010248 cone distal epiphyses hand phalanges shaped +HP:0000787 calculi renal +HP:0000787 renal stones +HP:0000787 kidney stones +HP:0000787 nephrolithiasis +HP:0004442 closure early joint midline skull +HP:0004442 closes early joint midline skull +HP:0004442 craniosynostosis sagittal suture +HP:0004442 sagittal suture synostosis +HP:0004442 craniosynostosis sagittal +HP:0010343 5th aplasia hypoplasia toe +HP:0010343 absent pinky small toe +HP:0010343 absent little small toe +HP:0010343 absent pinkie small toe +HP:0010343 absent pinky toe underdeveloped +HP:0003258 deficiency glyoxalase +HP:0003259 creatinine increased +HP:0003259 blood creatinine high level +HP:0003259 creatinine elevated +HP:0003259 creatinine increased serum +HP:0003259 creatinine elevated serum +HP:0003528 calcitonin elevated +HP:0010334 3rd affecting polydactyly toe +HP:0003250 absence vagina +HP:0003250 absent vagina +HP:0003250 aplasia vagina +HP:0009164 calcifications carpal +HP:0009164 abnormal bones calcification wrist +HP:0009164 abnormal bones calcification carpal +HP:0003252 anteriorly displaced genitalia +HP:0003521 disproportionate short stature trunked +HP:0003521 dwarfism short trunked +HP:0003521 disproportionate dwarfism short trunked +HP:0003521 disproportionate short stature trunk +HP:0003254 abnormality dna repair +HP:0003527 hyperprostaglandinuria +HP:0003527 high levels prostaglandin urine +HP:0003256 abnormality cascade coagulation +HP:0003256 coagulopathy +HP:0009165 bone calcifications end finger outermost part pinkie speckled +HP:0009165 bone calcifications end finger outermost part pinky speckled +HP:0009165 5th distal epiphysis finger phalanx stippling +HP:0009165 bone calcifications end finger little outermost part speckled +HP:0009515 bone cone end finger index long middle part shaped +HP:0009515 2nd cone epiphysis finger middle phalanx shaped +HP:0009515 cone epiphyses finger index middle phalanx shaped +HP:0010883 aortic atresia valve +HP:0010883 aortic atresia +HP:0500052 3 prematurity retinopathy stage +HP:0500052 3 rop stage +HP:0002948 bodies fusion vertebral +HP:0002948 body fusion vertebral +HP:0002948 fused vertebrae +HP:0002948 fusion spinal +HP:0002948 fusion vertebral +HP:0500049 prematurity retinopathy +HP:0500048 canalization delayed duct nasolacrimal +HP:0002789 polypnea +HP:0002789 breathing depth increased or rate respiratory +HP:0002789 tachypnea +HP:0002788 colds recurrent +HP:0002788 infections recurrent respiratory upper +HP:0002788 frequent infections respiratory upper +HP:0002788 infections recurrent respiratory tract upper +HP:0002788 infections lower recurrent respiratory upper +HP:0002788 frequent infections respiratory tract upper +HP:0002788 infection recurrent respiratory upper +HP:0002788 infections respiratory tract upper +HP:0009511 2nd distal epiphysis finger phalanx stippling +HP:0009511 bone calcifications end finger index outermost part speckled +HP:0002787 calcification trachea +HP:0002787 calcification ectopic tracheal +HP:0002787 calcification tracheal +HP:0002787 calcifications tracheal +HP:0002786 tracheobronchomalacia +HP:0002781 airway obstruction upper +HP:0002780 bronchomalacia +HP:0002783 infections lower respiratory tract +HP:0002783 chest infections recurrent +HP:0002783 infections lower recurrent respiratory tract +HP:0002783 chronic infections lung +HP:0500053 4 rop stage +HP:0500053 4 prematurity retinopathy stage +HP:0010341 5th abnormality epiphyses toe +HP:0010341 abnormality bone end part pinkie toe +HP:0010341 abnormality bone end part pinky toe +HP:0010341 abnormality bone end little part toe +HP:0410018 ear infections recurrent +HP:0410018 ear frequent infections +HP:0410019 epigastrium pain +HP:0410019 epigastric pain +HP:0030838 hip pain +HP:0410012 abnormality floor mouth +HP:0410012 abnormal floor morphology mouth +HP:0410013 abnormality region submandibular +HP:0410010 abnormality nerve plexus somatic +HP:0410011 abnormality mastication muscles +HP:0410011 abnormality masticatory muscle +HP:0410016 abnormality cranial ganglion +HP:0410017 externa otitis +HP:0410017 ear s swimmer +HP:0410014 abnormality ganglion +HP:0410015 abnormality ganglion nervous peripheral system +HP:0030836 pain wrist +HP:0030837 finger pain +HP:0030834 pain shoulder +HP:0100504 b2 deficiency vitamin +HP:0100504 deficiency riboflavin +HP:0030835 elbow pain +HP:0030832 strands vitreous +HP:0011286 aganglionosis colonic total +HP:0030833 neck pain +HP:0009832 abnormal hand phalanges terminal +HP:0009832 abnormality bone finger outermost +HP:0009832 abnormality distal finger phalanx +HP:0009832 abnormality distal hand phalanges +HP:0009832 abnormal distal finger morphology phalanx +HP:0009833 abnormal hand middle morphology phalanx +HP:0009833 abnormality bones finger hand middle +HP:0009833 abnormality hand middle phalanges +HP:0009830 neuritis peripheral +HP:0009830 damage nerve peripheral +HP:0009830 neuropathy peripheral +HP:0009830 neuropathy +HP:0009831 mononeuropathy +HP:0009831 damaged nerve single +HP:0009836 broad phalanges terminal +HP:0009836 broad distal finger phalanx +HP:0009836 phalanges spatulate terminal +HP:0009836 broad distal phalanges +HP:0009836 broad distal ends phalanges square +HP:0009836 bone broad finger outermost +HP:0009836 broad distal hand phalanges +HP:0009836 broad distal phalanx +HP:0030786 photopsia +HP:0009834 abnormality hand phalanges proximal +HP:0009834 abnormal hand morphology phalanx proximal +HP:0009834 abnormality bones finger hand innermost +HP:0009835 aplasia distal hypoplasia phalanges +HP:0009835 absent distal or phalanges small +HP:0009835 absent distal hypoplastic phalanges +HP:0009835 aplastic distal hypoplastic phalanx +HP:0009835 absent bone finger hand outermost underdeveloped +HP:0009835 aplasia distal hand hypoplasia phalanges +HP:0009835 absent bone finger hand outermost small +HP:0009835 aplastic distal hypoplastic phalanges +HP:0009835 absent hypoplastic phalanges terminal to +HP:0002121 absence seizures +HP:0002121 mal petit seizures +HP:0002121 brief seizures spells staring with +HP:0002121 mal petit seizure +HP:0002121 absence seizure +HP:0002120 atrophy cerebral cortical +HP:0002120 atrophy cortical +HP:0002120 brain cells decrease due layer loss outer size to +HP:0002120 atrophy cerebral cortex +HP:0500151 blood cystine high levels +HP:0500151 blood concentraions cystine increased +HP:0500151 hypercystinemia +HP:0030787 abnormality cerumen +HP:0002127 abnormal motor neuron shape upper +HP:0002127 abnormal morphology motor neuron upper +HP:0002126 polymicrogyria +HP:0002126 brain grooves more +HP:0410171 cotinine increased level +HP:0410170 degeneration hippocampus +HP:0410170 atrophy hippocampal +HP:0410170 atrophy hippocampus +HP:0410173 blood i increased level troponin +HP:0410172 blood xenobiotic +HP:0410175 blood bodies increased ketone level +HP:0410175 ketonemia +HP:0410174 blood increased level t troponin +HP:0410177 abnormal blood g6pd level +HP:0410177 6 abnormal blood dehydrogenase glucose level phosphate +HP:0410176 6 abnormal dehydrogenase glucose level phosphate +HP:0410176 abnormal g6pd level +HP:0410179 blood decreased g6pd level +HP:0410179 6 blood decreased dehydrogenase glucose level phosphate +HP:0410178 blood g6pd increased level +HP:0410178 6 blood dehydrogenase glucose increased level phosphate +HP:0012654 abnormal csf dopamine level +HP:0012655 csf dopamine elevated level +HP:0012652 asthma exercise induced +HP:0012653 acute asthma severe +HP:0012653 asthmaticus status +HP:0012650 perisylvian polymicrogyria +HP:0012651 abasia +HP:0008783 innermost metaphysis thighbone wide +HP:0008783 femoral metaphysis proximal wide +HP:0007570 disease flegel +HP:0007570 hyperkeratosis lenticularis perstans +HP:0007573 baby eczema late onset +HP:0007573 atopic dermatitis late onset +HP:0008780 bilateral dislocation hip +HP:0008786 crest iliac serration +HP:0008786 crest iliac irregular lacy +HP:0008786 appearance crest iliac lacy +HP:0008785 delayed ossification pubic rami +HP:0008784 capital epiphyses femoral wide +HP:0008784 end innermost part thighbone wide +HP:0500150 hypoglutamatemia +HP:0500150 blood concentrations decreased glutamate +HP:0500150 blood glutamate levels low +HP:0008789 cone end innermost part shaped thighbone +HP:0008789 capital cone epiphysis femoral shaped +HP:0008788 bone delayed fo maturation pubic +HP:0008788 absent infancy ossification pubic +HP:0008788 bone delayed ossification pubic +HP:0008788 bone delayed mineralization pubic +HP:0100502 b12 deficiency vitamin +HP:0006955 hypoplasia olivopontocerebellar +HP:0006956 enlarged lateral ventricles +HP:0006956 dilatation lateral ventricle +HP:0006956 dilation lateral ventricles +HP:0006956 cerebral dilatation lateral ventricles +HP:0006957 ability loss to walk +HP:0006951 cyst retrocerebellar +HP:0006958 abnormal auditory brainstem evoked potentials +HP:0006958 abnormal auditory evoked potentials +HP:0006959 atrophy muscular proximal spinal +HP:0006650 border lateral scapula thickening +HP:0006650 blade border lateral shoulder thickening +HP:0009784 absent small triceps +HP:0009784 aplasia hypoplasia triceps +HP:0009784 absent triceps underdeveloped +HP:0009785 aplasia triceps +HP:0009785 absent triceps +HP:0009786 absent muscles thigh underdeveloped +HP:0009786 absent muscles small thigh +HP:0009786 aplasia hypoplasia musculature thigh +HP:0009787 absent quadriceps underdeveloped +HP:0009787 absent quadriceps small +HP:0009787 aplasia hypoplasia quadriceps +HP:0009780 horns iliac +HP:0009781 lester s sign +HP:0009782 absent biceps underdeveloped +HP:0009782 aplasia biceps hypoplasia +HP:0009782 absent biceps small +HP:0009783 absent biceps +HP:0009783 aplasia biceps +HP:0009788 aplasia quadriceps +HP:0009788 absent quads +HP:0009789 abscess perianal +HP:0030173 hypermyelination peripheral +HP:0030173 increased myelination peripheral +HP:0008417 hypoplasia vertebral +HP:0008417 underdeveloped vertebrae +HP:0030171 hematoma perirenal +HP:0030170 artery cystic pseudoaneurysm +HP:0030177 abnormality electrophysiology nervous peripheral system +HP:0030177 abnormal conduction nerve study +HP:0030176 asymmetric demyelination peripheral +HP:0100367 4th hypoplastic phalanges small toe +HP:0100367 4th bone short toe +HP:0100367 fourth phalanx short toe +HP:0100367 4th phalanx short toe +HP:0008416 lumbar six vertebrae +HP:0030179 abnormal action amplitude peripheral potential +HP:0030178 abnormality central electrophysiology nervous system +HP:0100076 4th epiphyses toe triangular +HP:0100076 4th bone end part toe triangular +HP:0100077 5th absent epiphyses toe +HP:0100077 absent bone end part pinky toe +HP:0100077 absent bone end little part toe +HP:0100077 absent bone end part pinkie toe +HP:0100074 4th bone end part small toe +HP:0100074 4th epiphyses small toe +HP:0100413 3rd bone complete duplication innermost toe +HP:0100413 3rd complete duplication phalanx proximal toe +HP:0100072 4th epiphyses ivory toe +HP:0100072 4th bone density end increased part toe +HP:0100073 4th pseudoepiphyses toe +HP:0008873 dwarfism limbed short +HP:0008873 brachymelic dwarfism +HP:0008873 disproportionate limb short stature +HP:0008873 dwarfism limb short +HP:0008873 disproportionate dwarfism limb short +HP:0008873 dwarfism micromelic +HP:0100071 4th bone end irregular part toe +HP:0100071 4th epiphyses irregular toe +HP:0100078 bone bracket end little part shaped toe +HP:0100078 bone bracket end part pinkie shaped toe +HP:0100078 5th bracket epiphyses toe +HP:0100078 bone bracket end part pinky shaped toe +HP:0100079 bone cone end little part shaped toe +HP:0100079 bone cone end part pinkie shaped toe +HP:0100079 bone cone end part pinky shaped toe +HP:0100079 5th cone epiphyses shaped toe +HP:0100417 4th distal duplication partial phalanx toe +HP:0100417 distal duplication fourth partial phalanx toe +HP:0100417 bone duplication fourth outermost partial toe +HP:0500155 abnormality asparagine metabolism +HP:0007710 opacities peripheral vitreous +HP:0100419 3rd bone duplication middle partial toe +HP:0100419 duplication middle partial phalanx third toe +HP:0100419 3rd duplication middle partial phalanx toe +HP:0100501 bronchiolitis recurrent +HP:0100040 2nd broad toe +HP:0100040 2nd toe wide +HP:0500154 alanine blood concentration decreased +HP:0500154 hypoalaninemia +HP:0500154 alanine blood levels low +HP:0025038 abscess testicular +HP:0025038 abscess intratesticular +HP:0025039 basal edema ganglia +HP:0025039 basal ganglia oedema +HP:0025034 abnormal cell erythroid morphology progenitor +HP:0025035 abnormal morphology proerythroblast +HP:0008418 off platyspondyly squared +HP:0025030 degeneration enteric neuronal +HP:0025030 degenerative enteric neuropathy +HP:0025031 abnormality digestive system +HP:0025032 abnormality digestive physiology system +HP:0025033 abnormality digestive morphology system +HP:0500157 hypoasparaginemia +HP:0500157 asparagine blood concentration decreased +HP:0500157 asparagine blood levels low +HP:0030560 0 6 acuity best corrected logmar visual +HP:0030561 0 8 acuity best corrected logmar visual +HP:0030562 0 9 acuity best corrected logmar visual +HP:0030563 0 1 acuity best corrected logmar visual +HP:0030564 1 acuity best corrected logmar visual +HP:0030565 1 2 acuity best corrected logmar visual +HP:0030566 1 3 acuity best corrected logmar visual +HP:0030567 0 2 acuity best corrected logmar visual +HP:0030839 cap knee pain under +HP:0030839 knee pain +HP:0030569 0 1 acuity logmar pinhole visual +HP:0005039 bones exostoses long multiple tubular +HP:0005039 bone exostoses long multiple +HP:0005036 hypoplasia ulnar unilateral +HP:0005037 proximal radio synostosis ulnar +HP:0100543 abnormality cognitive +HP:0100543 cognitive deficits +HP:0100543 cognitive defects +HP:0100543 cognitive impairment +HP:0100543 impairment mental +HP:0100543 impairment intellectual +HP:0100543 abnormality cognition +HP:0005035 bones short toe +HP:0005035 all phalanges shortening toes +HP:0500156 asaparagine blood high levels +HP:0500156 hyperasparaginemia +HP:0500156 asparagine blood concentration increased +HP:0005033 distal hypoplasia ulnar +HP:0005033 distal hypoplastic ulna +HP:0005033 distal shortening ulna +HP:0007715 extraocular muscles weak +HP:0006048 bone end long outermost wide +HP:0006048 distal metacarpals widening +HP:0031308 artery calcification vertebral +HP:0010132 epiphysis hallux irregular phalanx proximal +HP:0010132 big bone end innermost irregular part toe +HP:0012640 abnormality intracranial pressure +HP:0006042 bone hand long shaped y +HP:0006042 metacarpals shaped y +HP:0006040 long metacarpal second +HP:0006040 2nd bone hand long +HP:0100223 bone end middle part pinkie toe triangular +HP:0100223 bone end middle part pinky toe triangular +HP:0100223 5th epiphysis middle phalanx toe triangular +HP:0100223 bone end little middle part toe triangular +HP:0006045 bones digital pointed short +HP:0006045 phalanges pointed short +HP:0004660 decreased facial muscles size +HP:0004660 atrophy facial musculature +HP:0004660 facial hypotrophic musculature +HP:0004660 deficiency facial musculature +HP:0004660 facial hypoplasia musculature +HP:0004660 facial muscles small +HP:0004660 facial muscles underdevelopment +HP:0011571 mitral parachute valve +HP:0010018 1st enlarged epiphysis metacarpal +HP:0010018 1st bone end enlarged hand long part +HP:0010019 1st epiphysis fragmentation metacarpal +HP:0010019 1st bone end fragmentation hand long part +HP:0010016 1st bone bracket end hand long part shaped +HP:0010016 1st bracket epiphysis metacarpal +HP:0010017 1st cone epiphysis metacarpal shaped +HP:0010017 1st bone cone end hand long part shaped +HP:0010014 1st abnormality bone end hand long part +HP:0010014 1st abnormality epiphysis metacarpal +HP:0010015 1st absent bone end hand long part +HP:0010015 1st absent epiphysis metacarpal +HP:0010012 4th abnormality metacarpal +HP:0010012 4th abnormality bone hand long +HP:0010013 5th abnormality bone hand long +HP:0010013 5th abnormality metacarpal +HP:0010010 2nd abnormality bone hand long +HP:0010010 2nd abnormality metacarpal +HP:0010011 3rd abnormality bone hand long +HP:0010011 3rd abnormality metacarpal +HP:0005780 crease distal finger fourth interphalangeal no +HP:0005780 absent crease distal finger fourth interphalangeal +HP:0005781 contractures joints large +HP:0005787 lumbar platyspondyly +HP:0005788 abnormal cervical myelogram +HP:0005789 generalized osteosclerosis +HP:0005789 diffuse osteosclerosis symmetrical +HP:0005789 bone bones density increased skeletal +HP:0000888 horizontal ribs +HP:0005240 esophageal obstruction +HP:0100723 gastrointestinal stroma tumor +HP:0100723 gastrointestinal stromal tumors +HP:0100723 gastrointestinal stromal tumor +HP:0100221 5th epiphysis middle phalanx small toe +HP:0100221 bone end middle part pinky small toe +HP:0100221 bone end little middle part small toe +HP:0100221 bone end middle part pinkie small toe +HP:0007716 intraocular melanoma +HP:0007716 melanoma uveal +HP:0000889 abnormality clavicle +HP:0000889 abnormal clavicles +HP:0000889 abnormal collarbone +HP:0200154 development failure incisor lateral mandibular +HP:0200154 agenesis incisor lateral mandibular +HP:0200154 absence incisor lateral lower +HP:0200154 incisor lateral mandibular missing +HP:0200154 incisor lateral lower missing +HP:0200154 absence incisor lateral mandibular +HP:0011936 carnitine decreased plasma total +HP:0008610 hearing infantile loss sensorineural +HP:0008610 hearing impairment infantile sensorineural +HP:0011934 artery dilatation mesenteric +HP:0011934 aneurysm artery mesenteric +HP:0031967 cloudy urine +HP:0031967 turbid urine +HP:0031210 abnormal acid circulating concentration hyaluronic +HP:0031965 blood cell distribution increased red width +HP:0031965 distribution increased rbc width +HP:0031964 alanine aminotransferase increased +HP:0031964 elevated glutamic pyruvic serum transaminase +HP:0031964 alanine aminotransferase elevated serum +HP:0031215 circulating decreased dehydroepiandrosterone level sulfate +HP:0031962 anion elevated gap serum +HP:0031961 abnormal anion gap serum +HP:0031960 arm dystonia +HP:0031219 iodine radioactive reduced uptake +HP:0031218 siadh +HP:0031218 antidiuretic hormone inappropriate secretion syndrome +HP:0031218 antidiuretic hormone inappropriate secretion +HP:0031969 blood nitrogen reduced urea +HP:0011933 cerebellar elongated peduncle superior +HP:0011933 cerebellar long peduncles +HP:0011933 cerebellar elongated peduncles superior +HP:0011933 cerebellar long peduncle +HP:0006931 callosum corpus lipoma +HP:0031315 artery calcification carotid external +HP:0011930 chest skin stretchable +HP:0011930 chest hyperelastic skin +HP:0011930 chest hyperextensible skin +HP:0100227 bone end enlarged innermost little part toe +HP:0100227 bone end enlarged innermost part pinkie toe +HP:0100227 5th enlarged epiphysis phalanx proximal toe +HP:0100227 bone end enlarged innermost part pinky toe +HP:0004788 intestinal lymphedema +HP:0004787 fulminant hepatitis +HP:0004786 diverticula jejunal +HP:0004785 colon malrotation +HP:0011931 abnormality cerebellar peduncle +HP:0004783 duodenal polyposis +HP:0004783 duodenal multiple polyps +HP:0004782 hypotrichosis on scalp +HP:0004782 hair lack on reduced scalp +HP:0004782 hypotrichosis scalp +HP:0004780 elbow hypertrichosis +HP:0004780 elbow hairy +HP:0004780 elbow hairy syndrome +HP:0004780 cubiti hypertrichosis +HP:0030087 abnormal level testosterone +HP:0030087 abnormal level serum testosterone +HP:0010135 epiphysis hallux phalanx proximal small +HP:0010135 big bone end innermost part small toe +HP:0011432 alpha fetoprotein high maternal serum +HP:0009290 distal finger fourth phalanx short +HP:0009290 bone finger outermost ring short +HP:0009290 4th distal finger hypoplastic phalanx small +HP:0009290 4th distal finger phalanx short +HP:0030084 curving finger permanent +HP:0030084 clinodactyly +HP:0030084 curvature digit +HP:0000448 hyperplasia nasal +HP:0000448 nose pronounced +HP:0000448 disproportionately large nose +HP:0000448 increased nose size +HP:0000448 increased nasal size +HP:0000448 large nose +HP:0000448 big nose +HP:0000448 hypertrophy nose +HP:0000448 hyperplasia nose +HP:0000448 nose prominent +HP:0000448 hypertrophy nasal +HP:0000444 beaked nose +HP:0000444 hooked nose +HP:0000444 beak deformity nasal polly +HP:0000444 convex dorsum nose +HP:0000444 convex dorsum nasal +HP:0000444 convex nasal ridge +HP:0000444 beaklike protrusion +HP:0000445 increased nose width +HP:0000445 nose wide +HP:0000445 breadth increased nasal +HP:0000445 broad nose +HP:0000445 increased nasal width +HP:0000445 breadth increased nose +HP:0000446 bridge narrow nasal +HP:0000446 bridge nose pinched +HP:0000446 bridge nasal pinched +HP:0000446 bridge nasal thin +HP:0000446 bridge narrow nose +HP:0000446 narrow nasal root +HP:0000447 nose pear shaped +HP:0030082 abnormal behavior drinking +HP:0008273 aminoaciduria transient +HP:0008272 defect lysine renal transport tubular +HP:0008271 abnormal collagen ii type +HP:0008271 abnormal cartilage collagen +HP:0008271 abnormal collagen hyaline +HP:0100678 skin wrinkled +HP:0100678 premature skin wrinkling +HP:0100679 elasticity lack skin +HP:0100679 skin tight +HP:0008275 abnormal adapted electroretinogram light +HP:0008275 abnormal cone electroretinogram mediated +HP:0100674 hematocele vaginal +HP:0100675 pyocele vaginal +HP:0011637 anomalous artery coronary from origin pulmonary +HP:0011636 abnormal artery coronary origin +HP:0100670 bone rough trabeculation +HP:0100671 abnormal bone shape spongy +HP:0100671 abnormal bone morphology trabecular +HP:0100671 abnormality bone trabeculation +HP:0100672 hernia vaginal +HP:0100673 hydrocele vaginal +HP:0009003 below fat increased skin trunk +HP:0009003 adipose increased subcutaneous tissue truncal +HP:0009002 fat loss tissue trunk +HP:0009002 adipose loss subcutaneous tissue truncal +HP:0009002 adipose loss tissue truncal +HP:0003065 patellae small +HP:0003065 hypoplasia patellar +HP:0003065 patella small +HP:0003065 kneecap small +HP:0003065 hypoplastic patellae +HP:0003065 kneecap underdeveloped +HP:0009007 biceps hypoplastic +HP:0009007 biceps hypoplasia +HP:0009007 biceps underdeveloped +HP:0004566 pear shaped vertebrae +HP:0004566 bodies pear shaped vertebral +HP:0009005 hand intrinsic muscles weakness +HP:0009004 hypoplasia musculature +HP:0009004 hypoplasia muscle +HP:0009004 muscle underdeveloped +HP:0009004 developed musculature poorly skeletal +HP:0004568 anterior beaking +HP:0004568 beaked bodies vertebral +HP:0004568 anterior beaking bodies vertebral +HP:0004568 vertebrae wedged +HP:0004568 anterior beaking vertebrae +HP:0004568 like protrusion tongue vertebral +HP:0004568 beaking bodies vertebral +HP:0004568 anterior wedging +HP:0003068 deformities forearm like madelung +HP:0002334 abnormality cerebellar vermis +HP:0002335 aplasia cerebellar vermis +HP:0002335 agenesis cerebellar vermis +HP:0030297 chondromatosis metaphyseal ulna +HP:0010908 abnormality lysine metabolism +HP:0010909 abnormality arginine metabolism +HP:0002332 lack peer relationships +HP:0002333 deterioration motor +HP:0002333 degeneration movement progressive +HP:0010904 abnormality histidine metabolism +HP:0010906 hyperhistidinemia +HP:0010906 blood high histidine level +HP:0010906 histidinemia +HP:0010907 abnormality metabolism proline +HP:0010900 abnormality metabolism threonine +HP:0010901 abnormality metabolism methionine +HP:0010902 abnormality acid amino family glutamine metabolism +HP:0010903 abnormality glutamine metabolism +HP:0030088 increased level serum testosterone +HP:0030088 increased testosterone +HP:0030088 high levels serum testosterone +HP:0030088 high level serum testosterone +HP:0030088 increased levels serum testosterone +HP:0009299 absent bone finger middle ring underdeveloped +HP:0009299 absent bone finger middle ring small +HP:0009299 4th aplasia finger hypoplasia middle phalanx +HP:0030368 2nd finger hyperphalangy +HP:0030368 finger hyperphalangy index +HP:0030369 delivery induced vaginal +HP:0030366 by delivery device odon +HP:0030367 finger hyperphalangy +HP:0030364 caesarian secondary section +HP:0025419 pneumatocoele pulmonary +HP:0025419 pneumatocele pulmonary +HP:0030362 carnitine level muscle reduced +HP:0030363 caesarian primary section +HP:0030360 carcinoma cell large lung +HP:0030361 abnormality eicosanoid metabolism +HP:0030361 abnormality icosanoid metabolism +HP:0008660 dysgenesis renal tubular +HP:0008660 dysgenesis renotubular +HP:0007141 mixed polyneuropathy +HP:0007141 causing damage decreased feeling movement nerve +HP:0007141 neuropathy sensorimotor +HP:0007141 neuropathy peripheral sensorimotor +HP:0008663 renal sarcoma +HP:0100249 calcification muscles +HP:0100249 calcinosis muscle skeletal +HP:0100248 hemiballismus +HP:0100248 ballismus +HP:0008666 absorption histidine impaired renal tubular +HP:0025417 patulous urethra +HP:0100245 desmoid tumors +HP:0008669 impaired spermatogenesis +HP:0008669 abnormal spermatogenesis +HP:0008669 abnormal development sperm +HP:0100247 hiccough recurrent +HP:0100247 hiccups +HP:0100247 hiccup +HP:0100247 diaphragmatic flutter recurrent synchronous +HP:0100247 hiccup recurrent +HP:0100247 recurrent singultus +HP:0002951 absence cerebellar partial vermis +HP:0100241 ectopic mucosa respiratory +HP:0100240 joints synostosis +HP:0100240 fusion joints +HP:0100240 ankylosis bony +HP:0100243 leiomyosarcoma +HP:0100242 sarcoma +HP:0100242 connective malignant tissue tumor +HP:0100242 cancer connective tissue +HP:0003231 tyrosinemia +HP:0003231 blood increased tyrosine +HP:0003231 hypertyrosinemia +HP:0045060 aplasia bones extremities hypoplasia involving +HP:0025413 fossa navicularis stricture urethral +HP:0010720 abnormal hair pattern +HP:0010720 abnormal distribution hair +HP:0025410 fusion splenogonadal +HP:0025041 calcification thalamic +HP:0007313 brain degeneration neuroaxonal +HP:0007313 cerebral degeneration +HP:0025040 edema thalamus +HP:0025040 oedema thalamic +HP:0025040 edema thalamic +HP:0025040 oedema thalamus +HP:0012240 droplets increased lipid muscle +HP:0012240 droplets increased intramyocellular lipid +HP:0025043 enlarged lymph mesenteric node +HP:0006698 cavity dilatation ventricular +HP:0006698 aneurysm ventricular +HP:0005819 brachymesophalangy +HP:0005819 hand hypoplasia middle phalanges +HP:0005819 hypoplastic middle phalanges +HP:0005819 bone finger middle short +HP:0005819 hypoplasia midphalangeal +HP:0005819 middle phalanges short +HP:0005819 finger middle phalanx short +HP:0005819 hypoplastic middle phalanx +HP:0010517 abnormal position thymus +HP:0010517 ectopic thymus tissue +HP:0012330 pyelonephritis +HP:0006927 polymicrogyria unilateral +HP:0005242 atresia biliary extrahepatic +HP:0005242 atresia biliary duct extrahepatic +HP:0005817 foot polysyndactyly postaxial +HP:0040246 antigen antithrombin reduced +HP:0006694 calcific cardiac disease early progressive valvular +HP:0025049 abnormal brain by creatine level mrs +HP:0025049 abnormal brain by creatine level magnetic resonance spectroscopy +HP:0025048 brain by choline level magnetic reduced resonance spectroscopy +HP:0025048 brain by choline level mrs reduced +HP:0012337 abnormal homeostasis +HP:0012336 5 concentration csf methyltetrahydrofolate reduced +HP:0012336 5 cerebrospinal concentration fluid methyltetrahydrofolate reduced +HP:0003496 igm increased levels +HP:0003496 igm increased level +HP:0012465 concentration elevated hepatic iron +HP:0012465 concentration increased iron liver +HP:0012465 increased iron level liver +HP:0012464 decreased saturation transferrin +HP:0012467 acidosis acute respiratory +HP:0012466 acidosis chronic respiratory +HP:0012461 bacteria urine +HP:0012461 bacteriuria +HP:0012461 bacteria high urine +HP:0012460 cerebellar dysmorphic inferior vermis +HP:0012463 elevated saturation transferrin +HP:0012462 chin myoclonus +HP:0012462 chin spasms +HP:0012462 geniospasm +HP:0012469 infantile spasms +HP:0012468 acidosis chronic +HP:0040012 breakage chromosome +HP:0040012 breakage chromosomal increased rate +HP:0040012 breakage chromosomal tendency to +HP:0040012 breaks chromosome frequency high lymphocytes +HP:0040012 breakage chromosomal increased +HP:0040012 breaks chromosomal multiple +HP:0006510 chronic disease obstructive pulmonary +HP:0006230 oligodactyly unilateral +HP:0006233 distal interphalangeal joint osteoarthritis +HP:0006232 cavities expanded medullary metacarpals widened with +HP:0006543 arrest cardiorespiratory +HP:0006234 osteolysis tarsal +HP:0006234 bone osteolysis tarsal +HP:0006234 bones involving osteolysis tarsal +HP:0006541 airway birth chronic disease from obstructive +HP:0006236 bones hand long slender +HP:0006236 metacarpals slender +HP:0006239 all middle phalanges shortening toes +HP:0006239 brachymesophalangy feet +HP:0006239 all bones middle shortening toes +HP:0002366 abnormal lower morphology motor neuron +HP:0002366 lower motor neuron signs +HP:0002366 disease lower motor neuron +HP:0002366 lower manifestations motor neuron +HP:0006549 dysgenesis primary pulmonary unilateral +HP:0006548 arteriovenous malformation pulmonary +HP:0006548 av malformation pulmonary +HP:0006511 laryngeal stidor +HP:0006511 laryngeal stridor +HP:0040248 1 activator activity inhibitor plasminogen reduced +HP:0100437 3rd bullet phalanx proximal shaped toe +HP:0100437 3rd bone bullet proximal shaped toe +HP:0031181 erythema migratory necrolytic +HP:0045082 body decreased index mass +HP:0045082 bmi decreased +HP:0045081 abnormal bmi +HP:0045081 abnormality body index mass +HP:0045081 abnormal body index mass +HP:0045080 cd3 cells decreased positive proportion t +HP:0045080 cd3 cells decreased proportion t +HP:0045087 hip hypermobility joint +HP:0045086 flexibility joint knee over +HP:0045086 hypermobility joint knee +HP:0200084 cell giant hepatitis +HP:0200084 biopsy cell giant hepatitis on shown +HP:0200084 biopsy cell giant hepatitis liver on +HP:0200084 biopsy cell giant hepatitis on +HP:0045084 limb myoclonus +HP:0045084 limbs myoclonus +HP:0031189 drop wrist +HP:0003495 accumulation ganglioside gm2 +HP:0009649 absence bone outermost thumb +HP:0009649 absent ossification phalanx terminal thumb +HP:0009649 aplasia distal phalanx thumb +HP:0009649 aplasia bone outermost thumb +HP:0009648 bone outermost shaped thumb triangular +HP:0009648 distal phalanx shaped thumb triangular +HP:0002724 aspergillus infections recurrent +HP:0031212 abnormal circulating level progesterone +HP:0009641 absent bone outermost thumb underdeveloped +HP:0009641 absent bone outermost small thumb +HP:0009641 aplasia distal hypoplasia phalanx thumb +HP:0009640 1st bone fusion hand innermost long thumb with +HP:0009640 1st metacarpal phalanx proximal synostosis thumb with +HP:0009643 bone bullet outermost shaped thumb +HP:0009643 bullet distal phalanx shaped thumb +HP:0009642 bone outermost thumb wide +HP:0009642 distal phalanx thumb wide +HP:0009642 bone broad outermost thumb +HP:0009642 broad phalanx terminal thumb +HP:0009642 broad distal phalanx thumb +HP:0009645 bone defects osteolytic outermost thumb +HP:0009645 defect distal osteolytic phalanx thumb +HP:0009645 defects distal osteolytic phalanx thumb +HP:0009644 bone curved outermost thumb +HP:0009644 curved distal phalanx thumb +HP:0009646 distal patchy phalanx sclerosis thumb +HP:0009646 bone density increase outermost thumb uneven +HP:0004122 defect midline nose +HP:0004122 central defect nasal +HP:0004122 central defect nose +HP:0004122 defect midline nasal +HP:0004122 central cleft nose +HP:0004122 cleft midline nose +HP:0500078 alternating hypotropia +HP:0009296 4th bone bullet finger middle shaped +HP:0009296 4th bullet finger middle phalanx shaped +HP:0003493 antibody antinuclear serum +HP:0003493 antibodies antinuclear +HP:0003493 antibody antinuclear positivity +HP:0003493 antibody antinuclear positive +HP:0003493 antibody antinuclear elevated +HP:0001256 borderline mental mild retardation +HP:0001256 mental mild retardation +HP:0001256 mental mild nonprogressive retardation +HP:0001256 disability intellectual mild +HP:0010614 fibroma +HP:0011659 absent fallot pulmonary syndrome tetralogy valve with +HP:0011659 absent fallot pulmonary tetralogy valve with +HP:0001014 angiokeratomas +HP:0001014 angiokeratoma +HP:0001015 prominent veins +HP:0001015 prominent superficial veins +HP:0009336 3rd bracket distal epiphysis finger phalanx +HP:0009336 bone bracket end finger middle outermost part shaped +HP:0001010 lightened patchy skin +HP:0001010 hypopigmented skin +HP:0001010 hypopigmentation skin +HP:0001010 hypopigmentation +HP:0001012 lipomas multiple +HP:0001012 lipomas +HP:0001012 lipomatosis +HP:0001012 fatty lumps multiple +HP:0001013 eruptive xanthomas +HP:0000484 astigmatism hyperopic +HP:0003939 humeroulnar synostosis +HP:0003939 humeral synostosis ulnar +HP:0001018 abnormal dermatoglyphics palmar +HP:0007572 hyperpigmented streaks +HP:0012887 cystadenoma ovarian serous +HP:0012887 cyst ovarian serous +HP:0012886 cyst hemorrhagic ovarian +HP:0100809 pain scalp +HP:0100809 hypersensitivity scalp +HP:0100809 allodynia scalp +HP:0100809 scalp tenderness +HP:0100808 diverticulum gastric +HP:0100808 diverticulum stomach +HP:0012883 cyst fallopian tube +HP:0011658 defect double outlet pulmonary right septal stenosis subpulmonary ventricle ventricular with without +HP:0011658 dorv pulmonary stenosis subpulmonary vsd with without +HP:0011658 anomaly bing taussig +HP:0012881 abnormality labia majora +HP:0012881 abnormality lips vaginal +HP:0012880 abnormality inner lips vaginal +HP:0012880 abnormality labia minora +HP:0100803 abnormality periungual region +HP:0100802 ectopia gastric +HP:0100802 malposition stomach +HP:0100802 gastric malposition +HP:0100802 abnormal location stomach +HP:0100801 absent pancreas +HP:0100801 aplasia pancreatic +HP:0100800 absent pancreas small +HP:0100800 aplasia hypoplasia pancreas +HP:0100800 absent pancreas underdeveloped +HP:0100807 fingers long +HP:0100806 sepsis +HP:0100806 blood infection stream +HP:0012889 cervical endometriosis +HP:0100804 fibroma ungual +HP:0100804 fibromas parungual +HP:0100804 koenen tumor +HP:0100804 fibroma periungual +HP:0100804 koenen s tumor +HP:0003491 elevated pyrophosphate urine +HP:0009258 bone end finger outermost part ring small +HP:0009258 4th distal epiphysis finger phalanx small +HP:0009259 bone calcifications end finger outermost part ring speckled +HP:0009259 4th distal epiphysis finger phalanx stippling +HP:0500164 abnormal blood co2 levels +HP:0500164 abnormal blood carbon dioxide level +HP:0500165 abnormal blood levels oxygen +HP:0500165 abnormal blood level oxygen +HP:0500165 abnromal blood concentration o2 +HP:0500166 abnormal circulating gastrin level +HP:0500167 blood elevated gastrin +HP:0500167 blood gastrin increased +HP:0500167 hypergastrinemia +HP:0500160 abnormality carnosine metabolism +HP:0500161 blood carnosine concenrtation increased +HP:0500161 blood carnosine increased level +HP:0500161 blood carnosine high levels +HP:0500162 blood carnosine levels low +HP:0500162 blood carnosine concentraion decreased +HP:0500162 blood carnosine decreased level +HP:0500163 blood concentrations decreased ornithine +HP:0500163 hypoornithinemia +HP:0500163 blood levels low ornithine +HP:0001278 blood decrease pressure standing up upon +HP:0001278 hypotension postural +HP:0001278 hypotension orthostatic +HP:0010616 fibroma lung +HP:0030979 choroidal dilatation large vessels +HP:0030979 choroidal dilated vessels +HP:0030978 albumin csf decreased ratio serum +HP:0030973 exercise fatigue induced +HP:0030973 fatigue postexertional +HP:0030973 malaise postexertional +HP:0030973 exercise induced malaise +HP:0030972 abnormal blood pressure systemic +HP:0001272 atrophy cerebellar +HP:0001272 cerebellum degeneration +HP:0001272 atrophy infratentorial +HP:0030970 abnormal cava physiology vena +HP:0030977 activity factor increased viii +HP:0003800 abnormality dysfunction mitochondrial muscle related to +HP:0030975 cap pontine tegmental +HP:0030975 pontine tegmentum vaulted +HP:0030974 cryptozoospermia +HP:0030974 cryptospermia +HP:0200133 lumbosacral meningocele +HP:0001074 areas atypical exposed nevi non sun +HP:0410268 hemangioma splenic +HP:0410268 hemangioma spleen +HP:0031505 abnormal circulating level thyroxine +HP:0010816 epidermal nevus +HP:0010816 epidermal nevi +HP:0010515 absent thymus underdeveloped +HP:0010515 aplasia hypoplasia thymus +HP:0010515 aplasia hypoplasia or thymic +HP:0010515 absent small thymus +HP:0004302 functional motor problems +HP:0004302 deficit functional motor +HP:0200136 dysphagia oropharyngeal +HP:0200136 dysphagia oral pharyngeal +HP:0200136 difficulty swallowing +HP:0005244 gastrointestinal infarctions +HP:0011834 moyamoya phenomenon +HP:0005576 fibrosis interstitial renal +HP:0005576 scarring tubulointerstitial +HP:0005576 fibrosis renal tubulointerstitial +HP:0005576 fibrosis tubulointerstitial +HP:0040079 irregular teeth +HP:0040079 dentition irregular +HP:0040078 axonal degeneration +HP:0000076 reflux vesicoureteric +HP:0000076 reflux ureteric +HP:0000076 reflux ureteral +HP:0000076 reflux vesicoureteral +HP:0005009 dumbbell humerus shaped +HP:0005009 arm bone dumbbell long shaped upper +HP:0040071 abnormal morphology ulna +HP:0040070 abnormality bone limb upper +HP:0040073 abnormal bone forearm morphology +HP:0040073 abnormal bone forearm shape +HP:0040072 abnormality bone forearm +HP:0040075 hypopituitarism +HP:0040077 abnormal blood calcium concentration +HP:0040077 abnormal blood calcium levels +HP:0004306 abnormal endocardium morphology +HP:0004306 abnormality endomycoardium +HP:0004306 abnormality endocardium +HP:0004305 contractions involuntary muscle +HP:0004305 involuntary movements +HP:0410261 4th 5th between space toe wide +HP:0410260 asymmetrical crease gluteal horizontal +HP:0410260 asymmetrical buttock crease +HP:0410260 asymmetrical crease gluteal +HP:0410260 asymmetrical gluteal sulcus +HP:0000278 retrogenia +HP:0000278 mandible receding +HP:0000278 chin receding +HP:0000278 chin weak +HP:0000278 retrognathia +HP:0000278 jaw weak +HP:0000278 jaw lower receding +HP:0000278 jaw lower retrognathia +HP:0000273 facial grimacing +HP:0000272 flattening zygomatic +HP:0000272 cheekbone flat +HP:0000272 hypoplasia malar +HP:0000272 bone hypotrophic malar +HP:0000272 bone decreased malar size +HP:0000272 flattening malar +HP:0000272 bone malar underdevelopment +HP:0000272 depressed malar region +HP:0000271 anomaly face +HP:0000271 abnormality physiognomy +HP:0000271 abnormal face +HP:0000271 abnormality face +HP:0000271 abnormality countenance +HP:0000271 anomaly facial +HP:0000271 abnormality visage +HP:0000271 abnormality facial +HP:0000271 disorder face +HP:0000270 open sutures +HP:0000270 closure cranial delayed suture +HP:0000270 closure fontanelle late +HP:0000270 closure delayed fontanelles +HP:0000270 closure delayed fontanel +HP:0000270 closure delayed fontanelle +HP:0000270 closing fontanelles late +HP:0000270 broad closing cranial late sutures +HP:0000270 closure delayed fontanels +HP:0000270 closing fontanelle late +HP:0000277 deformity mandible +HP:0000277 abnormality mandible +HP:0000277 bone deformity jaw lower +HP:0000277 anomaly mandible +HP:0000277 bone jaw lower malformation +HP:0000277 malformation mandible +HP:0000277 abnormality bone jaw lower +HP:0000276 face hyperplasia vertical +HP:0000276 dimension face increased vertical +HP:0000276 elongation face vertical +HP:0000276 face overgrowth vertical +HP:0000276 face long +HP:0000276 excess facial vertical +HP:0000276 face increased length +HP:0000276 excess face vertical +HP:0000276 enlargement face vertical +HP:0000276 facies long +HP:0000276 elongation face +HP:0000276 face height increased +HP:0000275 decreased face width +HP:0000275 face narrow +HP:0000275 deficiency face horizontal +HP:0000275 facies thin +HP:0000275 face hypoplasia transverse +HP:0000275 face thin +HP:0000275 face horizontal hypoplasia +HP:0000275 decreased dimension face transverse +HP:0000275 facies narrow +HP:0000275 decreased dimension face horizontal +HP:0000275 breadth decreased face +HP:0000275 face horizontal insufficiency +HP:0000275 face insufficiency transverse +HP:0000275 deficiency face transverse +HP:0000274 facies small +HP:0000274 microface +HP:0000274 face small +HP:0000274 face narrow short +HP:0000274 face hypoplasia +HP:0000274 facial hypoplasia +HP:0000274 microfacies +HP:0008470 distances interpediculate lower narrowness regions thoracic +HP:0008470 interpediculate lower narrowness thoracic +HP:0100440 3rd bone bullet outermost shaped toe +HP:0100440 3rd bullet distal phalanx shaped toe +HP:0003805 rimmed vacuoles +HP:0003805 biopsy on rimmed vacuoles +HP:0030436 fibrofolliculoma +HP:0030436 fibrofolliculomas +HP:0004197 finger ring symphalangism +HP:0004197 4th finger symphalangism +HP:0004197 bones finger fused ring +HP:0004195 defects finger lytic phalanges ring +HP:0004195 4th defects finger osteolytic phalanges +HP:0000070 ureterocele +HP:0003902 epiphyseal humerus stippling +HP:0003902 epiphyses humeral ossification stippled +HP:0001909 blood cancer +HP:0001909 leukemia +HP:0010818 hypertonic seizures +HP:0010818 generalized seizures tonic +HP:0007957 corneal opacity +HP:0007957 corneal opacities +HP:0007957 clouding cornea eye or scarring +HP:0007957 clouding corneal +HP:0007957 clarity corneal reduction +HP:0001902 giant platelets +HP:0001903 blood cells hemoglobin low number or red +HP:0001903 anaemia +HP:0001903 decreased hemoglobin +HP:0001903 anemia +HP:0001900 hemoglobin increased +HP:0001901 erythrocytosis +HP:0001901 abnormally erythrocytes shaped +HP:0001901 polycythemia +HP:0001901 polyglobulia +HP:0001901 blood cells increased red +HP:0001907 blood clot vessel +HP:0001907 events thromboembolic +HP:0001907 thromboembolism +HP:0001907 embolism thrombosis +HP:0001907 disease thromboembolic +HP:0001904 autoimmune neutropenia +HP:0001904 anti antibodies neutropenia neutropil presence +HP:0001905 thrombocytopenia +HP:0010739 osteopoikilosis +HP:0010733 eyelid flammeus naevus +HP:0010733 eyelid on port stain wine +HP:0030437 anal canal tumor +HP:0030437 anal canal neoplasm +HP:0010731 extension eyebrows eyelid towards upper +HP:0010730 double eyebrow +HP:0010730 duplication eyebrow +HP:0010819 hypotonic seizures +HP:0010819 attacks drop +HP:0010819 loss muscle sudden tone +HP:0010819 atonic seizures +HP:0010819 astatic seizures +HP:0010819 drop seizures +HP:0010736 dysplasia fibrous monostotic +HP:0010735 dysplasia fibrous polyostotic +HP:0010734 bones dysplasia fibrous +HP:0010225 4th metacarpal pseudoepiphysis +HP:0010224 4th abnormality epiphysis metacarpal +HP:0010224 4th abnormality bone end hand long part +HP:0010227 5th metacarpal pseudoepiphysis +HP:0010226 5th abnormality epiphysis metacarpal +HP:0010226 abnormality bone end finger long part pinky +HP:0010226 abnormality bone end finger long part pinkie +HP:0010226 abnormality bone end finger little long part +HP:0010221 2nd metacarpal pseudoepiphysis +HP:0010950 abnormality fourth ventricle +HP:0000059 labia majora small +HP:0000059 lips underdeveloped vaginal +HP:0000059 hypoplasia labia majora +HP:0000059 hypoplastic labia majora +HP:0010222 3rd abnormality bone end hand long part +HP:0010222 3rd abnormality epiphysis metacarpal +HP:0000056 abnormality clitoris +HP:0000056 abnormality clit +HP:0000055 abnormal external female genitalia +HP:0000055 abnormality external female genitalia +HP:0000054 micropenis +HP:0000054 penis short +HP:0000054 penis small +HP:0010229 bracket epiphyses hand phalanges +HP:0010229 bones bracket end finger part shaped +HP:0010229 bracket epiphyses fingers +HP:0000052 atresia male urethral +HP:0000051 hypospadias perineal +HP:0008472 coccyx prominent protruding +HP:0008472 prominent protruding tailbone +HP:0008472 large tailbone +HP:0100446 3rd curved phalanx proximal toe +HP:0100446 3rd bone curved innermost toe +HP:0003508 proportionate small stature +HP:0003508 proportionate short stature +HP:0030434 pilomatrixoma +HP:0004224 abnormality bone end finger little middle part +HP:0004224 abnormality bone end finger middle part pinky +HP:0004224 abnormality bone end finger middle part pinkie +HP:0004224 5th abnormality epiphysis finger middle phalanx +HP:0004225 abnormality bone finger outermost pinky +HP:0004225 abnormality bone finger little outermost +HP:0004225 5th abnormality distal finger phalanx +HP:0004225 abnormality bone finger outermost pinkie +HP:0004225 abnormality finger little phalanx terminal +HP:0004225 abnormality distal finger little phalanx +HP:0004226 5th curved distal finger phalanx +HP:0004226 curved finger little phalanx terminal +HP:0004226 bone curved finger outermost pinky +HP:0004226 bone curved finger little outermost +HP:0004226 bone curved finger outermost pinkie +HP:0004227 bone finger little outermost short +HP:0004227 digit distal fifth hypoplasia phalangeal +HP:0004227 bone finger outermost pinkie short +HP:0004227 bone finger outermost pinky short +HP:0004227 brachytelophalangism v +HP:0004227 distal fifth finger phalanx short +HP:0004227 5th distal finger phalanx short +HP:0004227 finger hypoplastic little phalanx small terminal +HP:0004220 5th finger middle phalanx short +HP:0004220 finger hypoplastic little middle phalanx small +HP:0004220 fifth finger hypoplastic middle phalanx +HP:0004220 bone finger little middle short +HP:0004220 5th finger hypoplastic middle phalanx small +HP:0004220 5th finger hypoplastic middle phalanx +HP:0004220 bone finger middle pinkie short +HP:0004220 a3 brachydactyly type +HP:0004220 bone finger middle pinky short +HP:0004220 5th finger hypoplasia middle phalangeal +HP:0004220 fifth finger hypoplasia mid phalanx +HP:0004220 finger little middle phalanx short +HP:0004220 brachymesophalangism v +HP:0003502 relative short stature +HP:0003502 mild short stature +HP:0004223 bone density end finger increased outermost part pinky +HP:0004223 distal epiphysis finger ivory little phalanx +HP:0004223 5th distal epiphysis finger ivory phalanx +HP:0004223 bone density end finger increased outermost part pinkie +HP:0004223 bone density end finger increased little outermost part +HP:0004223 epiphysis finger ivory little phalanx terminal +HP:0031504 frothy urine +HP:0031504 foamy urine +HP:0011651 committed defect double doubly outlet pulmonary right septal stenosis ventricle ventricular with +HP:0011651 committed dorv doubly pulmonary stenosis vsd with +HP:0030293 fibular irregularity metaphyseal +HP:0030293 bone calf irregularity portion wide +HP:0008047 abnormality eye vasculature +HP:0008047 abnormality blood eye vessels +HP:0008048 abnormality line schwalbe +HP:0011650 arteriosus bilateral ductus +HP:0011650 bilateral botalli ductus +HP:0500076 alternating hypetropia +HP:0008049 abnormality extraocular muscles +HP:0007633 decreased eyeballs size +HP:0007633 bilateral microphthalmia +HP:0007633 decreased eyes globes size +HP:0007633 bilateral microphthalmos +HP:0007633 abnormally both eyeball on sides small +HP:0007633 bilateral nanophthalmos +HP:0500077 alternating hyperphoria +HP:0009270 4th epiphysis finger phalanx proximal stippling +HP:0009270 bone calcifications end finger innermost part ring speckled +HP:0009271 4th delta epiphysis finger phalanx proximal shaped +HP:0009271 4th epiphysis finger phalanx proximal triangular +HP:0009271 bone end finger innermost part ring triangular +HP:0003903 broad epiphyses humeral +HP:0003903 arm bone end long part upper wide +HP:0003903 epiphyses humeral wide +HP:0410035 abnormal activation lymphocyte t +HP:0410035 abnormal activation cell t +HP:0010495 amniotic constriction legs rings +HP:0410030 cleft lip +HP:0410031 cleft hard palate soft submucous +HP:0410032 cleft uvula +HP:0410033 alveolar cleft maxilla unilateral +HP:0011656 dorv pulmonary stenosis subaortic vsd with without +HP:0011656 defect double outlet pulmonary right septal stenosis subaortic ventricle ventricular with without +HP:0011178 alpha eeg +HP:0011179 beta electroencephalography wave +HP:0011179 beta eeg +HP:0011172 complex febrile seizures +HP:0011173 hypokinetic seizures +HP:0011170 atonic myoclonic seizures +HP:0011171 febrile seizures simple +HP:0011171 convulsion febrile simple +HP:0011171 fever fit simple +HP:0011176 constitutional eeg variants with +HP:0011177 4 5 activity background eeg second with +HP:0011174 hyperkinetic seizures +HP:0011175 seizures versive +HP:0009276 4th camptodactyly finger +HP:0009276 camptodactyly finger ring +HP:0009276 4th contracture finger interphalangeal joint proximal +HP:0009277 4th contracture finger joint metacarpophalangeal +HP:0010618 fibroma ovarian +HP:0009814 limb peromelia upper +HP:0009815 aplasia extremities hypoplasia +HP:0009815 absent limbs or short +HP:0009815 absent extremities small +HP:0009815 limbs shortened +HP:0009815 absent extremities underdeveloped +HP:0009816 bones limb lower underdeveloped +HP:0009816 hypoplasia limbs lower +HP:0009816 bones hypoplasia involving limbs lower +HP:0009816 limb lower undergrowth +HP:0009817 absent bones limbs lower +HP:0009817 aplasia bones involving limbs lower +HP:0009810 abnormality joint limb upper +HP:0009810 abnormality joints limbs upper +HP:0009811 abnormality elbow +HP:0009811 abnormality elbows +HP:0009812 amelia involving limbs upper +HP:0009813 limb phocomelia upper +HP:0410153 acid increased level methylsuccinic urine +HP:0410153 acid increased level pyrotartaric urine +HP:0410152 abscess eosinophilic esophagus formation micro +HP:0410152 eosinophilic formation microabscess oesophagus +HP:0410152 eosinophilic esophagus formation microabscess +HP:0410151 eosinophilic esophagus infiltration +HP:0410151 eosinophilic infiltration oesophagus +HP:0003860 diaphyseal limbs sclerosis upper +HP:0003860 bone central density increased limbs long part upper +HP:0410157 acetylneuraminic acid fibroblasts increased level n +HP:0410157 fibroblasts increased level neu5ac +HP:0410157 acid fibroblasts increased level sialic +HP:0410157 fibroblasts increased level nana +HP:0410156 acetylneuraminic acid increased level n urine +HP:0410156 increased level nana urine +HP:0410156 increased level neu5ac urine +HP:0410154 acid increased level myristic serum +HP:0410154 acid increased level serum tetradecanoic +HP:0012670 orthostatic syncope +HP:0012671 aboulia +HP:0012671 abulia +HP:0012672 akinetic mutism +HP:0012673 aplasia upper vagina +HP:0012673 absent upper vagina +HP:0012674 agenesis lower vagina +HP:0012674 absent lower vagina +HP:0012674 aplasia lower vagina +HP:0012675 brain deposition iron +HP:0012675 accumulation brain iron +HP:0012676 accumulation brain copper +HP:0012677 accumulation globus iron pallidus +HP:0012678 accumulation iron nigra substantia +HP:0007950 atrophy chorioretinal peripapillary +HP:0010619 breast fibroadenoma +HP:0010619 breast fibroadenomas +HP:0007556 hyperkeratosis plantar +HP:0007556 hyperkeratoses plantar +HP:0007554 confetti hypopigmentation leg lower pattern skin +HP:0100586 aseptic leukocyturia +HP:0100587 abnormality preputium +HP:0100584 endocarditis +HP:0100585 skin teleangiectasia +HP:0100585 skin telangiectasia +HP:0100582 nasal polyposis +HP:0100582 nose polys +HP:0100582 nasal polyps +HP:0100583 corneal perforation +HP:0100583 iridocele +HP:0100580 endobrachyesophagus +HP:0100580 barrett esophagus +HP:0100580 barrett esophagus s +HP:0100580 barret syndrome +HP:0100581 caliectasis +HP:0100581 caliceal dilatation +HP:0100581 calices dilatation renal +HP:0100581 megacalicosis +HP:0010028 1st bone bullet hand long shaped +HP:0010028 1st bullet metacarpal shaped +HP:0007089 facial fasciculations lingual +HP:0100588 paraphimosis +HP:0100589 fistula urogenital +HP:0000078 abnormality genital +HP:0000078 defects genital +HP:0000078 anomalies genital +HP:0000078 abnormality reproductive system +HP:0000078 abnormality genital system +HP:0000078 abnormalities genital +HP:0030919 apgar five low minute score +HP:0030919 5 apgar low minute score +HP:0008732 hypophosphatemia renal +HP:0030918 1 apgar low minute score +HP:0030918 apgar low minute one score +HP:0100058 3rd bone end enlarged part toe +HP:0100058 3rd enlarged epiphyses toe +HP:0100059 3rd bone end fragmentation part toe +HP:0100059 3rd epiphyses fragmentation toe +HP:0030117 absent emerin fiber muscle +HP:0030116 abnormal emerin fiber muscle +HP:0030111 delta fiber muscle reduced sarcoglycan +HP:0030110 absent delta fiber muscle sarcoglycan +HP:0030113 abnormal dysferlin fiber muscle +HP:0030112 abnormal alpha dystroglycan fiber muscle +HP:0008857 neonatal short stature trunk +HP:0008857 at birth dwarfism identifiable short trunk +HP:0100051 2nd pseudoepiphyses toe +HP:0100052 2nd epiphyses small toe +HP:0100052 2nd bone end part small toe +HP:0100053 2nd bone calcifications end part speckled toe +HP:0100053 2nd epiphyses stippling toe +HP:0100054 2nd epiphyses toe triangular +HP:0100054 2nd bone end part toe triangular +HP:0030118 emerin fiber muscle reduced +HP:0100056 3rd bone bracket end part shaped toe +HP:0100056 3rd bracket epiphyses toe +HP:0100057 3rd cone epiphyses shaped toe +HP:0100057 3rd bone cone end part shaped toe +HP:0025232 bursitis +HP:0025233 paralysis sleep +HP:0030830 crackles +HP:0030830 rales +HP:0030830 crepitations +HP:0025231 abnormality bursa morphology synovial +HP:0025588 hypodeviation +HP:0025589 cyclodeviation +HP:0025234 parasomnia +HP:0025235 eye movement non parasomnia rapid +HP:0025235 nrem parasomnia +HP:0025584 hypotropia +HP:0025585 hyperphoria +HP:0025586 hypertropia +HP:0025587 hyperdeviation +HP:0025580 abnormal atrium morphology right +HP:0025581 foveal haemorrhage +HP:0025581 foveal hemorrhage +HP:0025582 hemorrhage submacular +HP:0025582 haemorrhage submacular +HP:0025582 hemorrhage macular sub +HP:0025583 fundal like reflex tapetal +HP:0030669 abnormal adnexa morphology ocular +HP:0030668 cyst dermoid periorbital +HP:0001483 eye poking +HP:0001482 nodules subcutaneous +HP:0001482 below nodule skin +HP:0001482 firm lump skin under +HP:0001482 abnormal growth skin tissue under +HP:0001482 nodule subcutaneous +HP:0001482 multiple nodules subcutaneous +HP:0001480 freckling +HP:0001489 detachment vitreous +HP:0001489 detachment posterior vitreous +HP:0001488 both drooping eyelids upper +HP:0001488 bilateral ptosis +HP:0006688 paroxysmal tachycardia +HP:0025057 abnormality lobe morphology olfactory +HP:0025052 abnormal acetyl aspartate brain by level magnetic n resonance spectroscopy +HP:0025052 abnormal acetyl aspartate brain by level mrs n +HP:0030661 snowballs vitreous +HP:0025050 brain by creatine elevated level magnetic resonance spectroscopy +HP:0025050 brain by creatine elevated level mrs +HP:0025051 brain by creatine level mrs reduced +HP:0025051 brain by creatine level magnetic reduced resonance spectroscopy +HP:0006681 absent atrioventricular node +HP:0006682 extrasystoles ventricular +HP:0006682 contractions premature ventricular +HP:0006682 heartbeat missed +HP:0006682 heartbeat skipped +HP:0006682 beat extra heart +HP:0006683 abnormal filling ventricular +HP:0006684 accessory multiple pathways preexcitation ventricular with +HP:0006685 endomyocardial fibrosis +HP:0006685 endocardial fibrosis +HP:0025058 atrophy hypothalamus +HP:0025058 atrophy hypothalamic +HP:0025058 complete hypothalamus loss once or partial present that tissue was wasting +HP:0025059 abscess splenic +HP:0100182 4th cone epiphysis middle phalanx shaped toe +HP:0100182 4th bone cone end middle part shaped toe +HP:0010512 adrenal calcification +HP:0030291 irregularity limb lower metaphyseal +HP:0100180 4th absent bone end middle part toe +HP:0100180 4th absent epiphysis middle phalanx toe +HP:0100181 4th bracket epiphysis middle phalanx toe +HP:0100181 4th bone bracket end middle part shaped toe +HP:0001017 anemic pallor +HP:0100186 4th bone density end increased middle part toe +HP:0100186 4th epiphysis ivory middle phalanx toe +HP:0410064 erythrocytes galactitol increased level +HP:0410064 blood cells galactitol increased level red +HP:0005010 amputation due fractures healing leading osteomyelitis slow to +HP:0005011 arm mesomelic shortening +HP:0005011 limbs mesomelia upper +HP:0005011 brachymesomelia limb upper +HP:0031648 aortic penetrating ulcer +HP:0031649 aortic rupture +HP:0005017 chondrocalcinosis polyarticular +HP:0031643 aneurysm aorta ascending fusiform tubular +HP:0031640 abnormal artery morphology radial +HP:0100185 4th epiphysis irregular middle phalanx toe +HP:0100185 4th bone end irregular middle part toe +HP:0031646 aneurysm aortic arch fusiform +HP:0031647 aneurysm aortic arch saccular +HP:0031644 abdominal aneurysm aortic fusiform +HP:0031645 abdominal aneurysm aortic saccular +HP:0006069 carpal delay ossification severe +HP:0006069 bone delay maturation severe wrist +HP:0009895 abnormality crus helix +HP:0009895 abnormality crus ear +HP:0006064 interphalangeal limited movement +HP:0006064 hinge joints limited movement +HP:0006067 carpal centers multiple ossification +HP:0006060 phalanges proximal shaped tombstone +HP:0006060 bones digital innermost shaped tombstone +HP:0100316 bodies hirano +HP:0030831 rhonchi +HP:0010030 1st defects metacarpal osteolytic +HP:0010031 1st bone density hand increase long uneven +HP:0010031 1st metacarpal patchy sclerosis +HP:0010033 1st bone hand long shaped triangular +HP:0010033 1st metacarpal shaped triangular +HP:0010034 first hypoplastic metacarpals +HP:0010034 1st metacarpal short +HP:0010034 1st bone hand long shortened +HP:0010034 1st hypoplastic metacarpal +HP:0010034 first hypoplasia metacarpal +HP:0010034 first metacarpals short +HP:0010034 first metacarpal short +HP:0010035 1st absent bone hand long +HP:0010035 absent first metacarpal +HP:0010035 1st aplasia metacarpal +HP:0010036 2nd aplasia hypoplasia metacarpal +HP:0010036 2nd absent bone hand long small +HP:0010036 2nd absent bone hand long underdeveloped +HP:0010037 2nd absent bone hand long +HP:0010037 2nd aplasia metacarpal +HP:0010038 2nd metacarpal rudimentary +HP:0010038 2nd metacarpal short +HP:0010038 2nd bone hand long shortened +HP:0010038 2nd hypoplastic metacarpal +HP:0010039 3rd absent bone hand long small +HP:0010039 3rd absent bone hand long underdeveloped +HP:0010039 3rd aplasia hypoplasia metacarpal +HP:3000011 abnormality muscle palatoglossus +HP:0025246 cyst pilar +HP:0025246 cyst trichilemmal +HP:0100183 4th enlarged epiphysis middle phalanx toe +HP:0100183 4th bone end enlarged middle part toe +HP:0002067 movements slowness +HP:0002067 movements slow +HP:0002067 bradykinesia +HP:3000012 abnormality muscle palatopharyngeus +HP:0031239 choroidal extrafoveal neovascularization +HP:0031238 fibers muscle necklace skeletal +HP:0031233 scapula squaring +HP:0031233 inferior scapulae squaring +HP:0031233 border horizontal inferior scapula +HP:0031232 incisura increased width +HP:0031231 incisura narrow width +HP:0031230 decreased incisura length +HP:0031237 fibers internally muscle nucleated skeletal +HP:0031236 dermal infiltrate neutrophilic predominantly +HP:0031235 epidermal infiltrate neutrophilic predominantly +HP:0031234 infiltration neutrophilic skin +HP:0004761 angioplasty artery coronary post restenosis +HP:0004763 paroxysmal supraventricular tachycardia +HP:0004763 episodic supraventricular tachycardia +HP:0004763 beat episodic heart rapid +HP:0004762 chamber heart right small +HP:0004762 chamber heart right underdeveloped +HP:0004762 heart hypoplasia right ventricle +HP:0004762 hypoplasia right ventricle +HP:0004764 degeneration mitral myxomatous valve +HP:0004768 at front hair head scalp thin +HP:0004768 at front hair head scalp sparse +HP:0004768 anterior hair scalp sparse +HP:0011514 abnormality binocular vision +HP:0010698 cataract nuclear pulverulent +HP:0010698 cataract coppock like +HP:0010698 cataract central pulverulent +HP:0010698 cataracta centralis pulverulenta +HP:0010699 cataract nuclear triangular +HP:0010694 cataract lamellar pulverulent +HP:0010695 cataract sutural +HP:0010696 cataract polar +HP:0010697 cataract pyramidal +HP:0010697 anterior cataract pyramidal +HP:0010690 hand image mirror polydactyly +HP:0010690 dupliction fingers image mirror +HP:0010691 foot image mirror polydactyly +HP:0010691 dupliction image mirror toes +HP:0010692 2 5 finger syndactyly +HP:0010692 finger index middle pinky webbed +HP:0010692 2nd 5th fingers webbed +HP:0010692 finger index little middle webbed +HP:0010692 finger index middle pinkie webbed +HP:0010693 cataract pulverulent +HP:0000426 bridge nasal prominent +HP:0000426 bridge convex nose +HP:0000426 bridge nose protruding +HP:0000426 nasal prominent root +HP:0000426 bridge convex nasal +HP:0000426 bridge nose prominent +HP:0000426 bridge nasal protruding +HP:0000426 bridge high nasal +HP:0000426 bridge elevated nasal +HP:0000422 bridge deformity nasal +HP:0000422 bridge deformity nose +HP:0000422 abnormality nasal root +HP:0000422 bridge malformation nasal +HP:0000422 abnormality bridge nasal +HP:0000422 bridge malformation nose +HP:0000422 abnormality bridge nose +HP:0000420 decreased length nasal septum +HP:0000420 nasal septum short +HP:0000420 nose septum short +HP:0000420 decreased length nose septum +HP:0000421 bloody nose +HP:0000421 nosebleed +HP:0000421 frequent nosebleeds +HP:0000421 bleeding nose +HP:0000421 epistaxis +HP:0000429 abnormality alae nasal +HP:0000429 ala malformation nasal +HP:0000429 abnormality alar cartilage nasal +HP:0000429 alar cartilage deformity nasal +HP:0000429 alar cartilage malformation nasal +HP:0000429 abnormality ala nasal +HP:0000429 ala deformity nasal +HP:0100616 teratoma testicular +HP:0100617 seminoma testicular +HP:0011615 abnormality pulmonary situs +HP:0011615 abnormal morphology pulmonary situs +HP:0100615 neoplasm ovarian +HP:0100615 ovarian tumor +HP:0100615 cancer ovarian +HP:0100615 neoplasm ovary +HP:0100615 neoplasm ovaries +HP:0100615 neoplasia ovarian +HP:0011613 aortic arch b interrupted type +HP:0011612 a aortic arch interrupted type +HP:0011611 aortic arch obstruction +HP:0011611 aortic arch atretic transverse +HP:0011611 aortic arch interrupted +HP:0100611 disease glomerulocystic kidney +HP:0100611 cysts glomerular multiple +HP:0011349 nerve palsy sixth +HP:0011349 abducens palsy +HP:0011348 abnormality cranial nerve sixth +HP:0003906 arm bone growth long plate wide +HP:0003906 broad epiphyseal humeral plate +HP:0003906 epiphyseal humeral plate wide +HP:0100618 cell leydig neoplasia +HP:0100619 cell neoplasm sertoli +HP:0100619 cell neoplasia sertoli +HP:0009064 generalized lipodystrophy +HP:0009067 muscle progressive spinal wasting +HP:0009067 degeneration muscle progressive spinal +HP:0009067 atrophy muscular progressive spinal +HP:0009060 atrophy muscle scapular +HP:0009063 distal muscle progressive weakness +HP:0009062 axial hypotonia infantile +HP:0009062 axial hypotonia infancy +HP:0009069 infantile lethal mitochondrial myopathy +HP:0000358 back ears head rotated toward +HP:0000358 ears posteriorly rotated +HP:0000358 angulated ears posteriorly +HP:0000358 posteriorly rotated +HP:0000358 auricles posteriorly rotated +HP:0000358 angulation ear increased posterior +HP:0011818 encephalocele nasofrontal +HP:0011818 encephalocele frontal naso +HP:0010966 abnormality acid anion fatty +HP:0010966 abnormality acid anion fatty metabolism +HP:0010967 abnormal carnitine levels +HP:0010967 abnormality carnitine metabolism +HP:0010964 abnormality acid chain fatty long metabolism +HP:0010965 abnormality acid metabolism phytanic +HP:0010962 extralobar sequestration +HP:0010963 absence bubble fetal on sonography stomach +HP:0010960 bronchopulmonary sequestration +HP:0010961 intralobar sequestration +HP:0008734 hypoplasia testicular +HP:0008734 decreased size testicular +HP:0008734 small testis +HP:0008734 hypoplastic testes +HP:0008734 small testes +HP:0010968 abnormality liposaccharide metabolism +HP:0010969 abnormality glycolipid metabolism +HP:0011517 cone monochromacy +HP:0003041 humeroradial synostosis +HP:0003041 humeral radial synostosis +HP:0003041 humerus radius synostosis +HP:0003041 elbow radiohumeral synostosis +HP:0011447 hyposegmentation neutrophil nuclei +HP:0011447 anomaly huet pelger +HP:0030341 circulating decreased follicle hormone level stimulating +HP:0030344 circulating decreased hormone level luteinising +HP:0030344 circulating decreased hormone level luteinizing +HP:0030345 abnormal hormone level luteinizing +HP:0030345 circulating increased lutropin +HP:0030345 abnormal circulating hormone level luteinizing +HP:0410062 galactitol increased level urine +HP:0030347 abnormal androgen circulating level +HP:0030348 androgen circulating increased level +HP:0030349 androgen circulating decreased level +HP:0200064 asymmetry iris pigmentation +HP:0001112 degeneration leber optic +HP:0001112 atrophy leber optic +HP:0001112 atrophy features leber optic +HP:0100267 lip pit +HP:0100266 carpal fusions tarsal +HP:0100266 bones carpal fusion tarsal +HP:0100266 ankle bone fusions wrist +HP:0100266 bones carpal coalescence tarsal +HP:0100266 carpals synostosis tarsals +HP:0100265 bones foot fusion hand long +HP:0100265 metacarpals metatarsals synostosis +HP:0100264 cushing s symphalangism +HP:0100264 proximal symphalangism +HP:0100263 distal symphalangism +HP:0100262 digits involving synostosis +HP:0100262 digits fusion involving +HP:0100261 abnormal morphology tendon +HP:0100261 abnormality sinew +HP:0100261 abnormal shape tendon +HP:0100260 mesoaxial polydactyly +HP:0100260 insertional polydactyly +HP:0100260 central polydactyly +HP:0100260 intercalary polydactyly +HP:0100269 lip paramedian pit +HP:0100269 labial paramedian pits +HP:0100268 lip pit upper +HP:0009586 bone finger fused index innermost +HP:0009586 2nd affecting finger phalanx proximal symphalangism +HP:0009587 finger index phalanx proximal triangular +HP:0009587 bone finger index innermost shaped triangular +HP:0009587 2nd finger phalanx proximal shaped triangular +HP:0030906 nutritive persistent suckle swallow +HP:0030906 reflex suck +HP:0009584 2nd defects finger osteolytic phalanx proximal +HP:0009584 defects finger index lytic phalanx proximal +HP:0003570 cofactor deficiency molybdenum +HP:0009585 bone density finger increase index innermost uneven +HP:0009585 2nd finger patchy phalanx proximal sclerosis +HP:0002359 falls frequent +HP:0002356 cramp s writer +HP:0002357 dysphasia +HP:0002354 forgetfulness +HP:0002354 memory poor +HP:0002354 impairment memory +HP:0002354 memory problems +HP:0002354 loss memory +HP:0002355 disability walking +HP:0002355 difficulty walking +HP:0002352 leukoencephalopathy +HP:0002353 abnormal eeg +HP:0002353 abnormalities electroencephalogram +HP:0002353 abnormalities eeg +HP:0002353 abnormal electroencephalogram +HP:0002353 abnormality eeg +HP:0002350 cerebellar cyst +HP:0002350 cerebellar cysts +HP:0009583 bone curved finger index innermost +HP:0009583 2nd curved finger phalanx proximal +HP:0003907 abnormality arm bone long portion upper wide +HP:0003907 abnormality humeral metaphyses +HP:0012194 episodic hemiplegia +HP:0012197 insulinoma +HP:0012196 cheyne respiration stokes +HP:0012196 periodic respiration +HP:0012191 b cell lymphoma +HP:0012190 cell lymphoma t +HP:0012193 anaplastic cell large lymphoma +HP:0012192 cell cutaneous lymphoma t +HP:0001114 xanthelasma +HP:0001114 palpebrarum xanthelasma +HP:0001114 periocular region xanthoma +HP:0001114 deposits eyelids fatty on +HP:0001114 eyelid xanthoma +HP:0001114 eyelid xanthelasma +HP:0001114 periocular region xanthelasma +HP:0001114 xanthoma +HP:0001114 around deposits eyes fatty skin +HP:0012199 cluster headache +HP:0012198 colonic juvenile polyposis +HP:0100255 dysplasia metaphyseal +HP:0100200 4th bone calcifications end innermost part speckled toe +HP:0100200 4th epiphysis phalanx proximal stippling toe +HP:0003572 citrulline low plasma +HP:0004307 abnormal anatomic heart location +HP:0031963 anion decreased gap serum +HP:0000292 adipose facial loss tissue +HP:0000292 adipose decreased facial tissue volume +HP:0000292 adipose face from loss subcutaneous tissue +HP:0000292 facial fat loss +HP:0000292 adipose amount decreased facial tissue +HP:0000292 amount decreased facial fat +HP:0000292 adipose facial loss subcutaneous tissue +HP:0031431 persistent repetition words +HP:0031430 cell expansion oligoclonal t +HP:0031433 emotions others unaware +HP:0031433 alexithymia +HP:0031432 actions persistent repetition +HP:0031435 monotonic speech +HP:0031434 abnormal prosody speech +HP:0031437 exposure pregnancy +HP:0031437 during exposure pregnancy +HP:0031436 increased pitch speech variability +HP:0031439 abnormal angiostatin level +HP:0031438 abnormal binding globulin hormone level sex +HP:0006210 oligodactyly postaxial +HP:0006217 interphalangeal joint limited mobility proximal +HP:0006217 hinge innermost joint limited mobility +HP:0006216 crease fifth finger interphalangeal single +HP:0025576 abnormal cava inferior morphology vena +HP:0006821 anterior gradient polymicrogyria posterior to +HP:0006824 cranial nerve palsy +HP:0006824 cranial nerve paresis +HP:0006824 cranial nerve palsies +HP:0006824 cranial nerve paralysis +HP:0003316 butterfly vertebrae +HP:0006825 columns cord dorsal pallor spinal +HP:0004562 beaking bodies l3 t12 vertebral +HP:0012137 abnormal granulocyte number precursors +HP:0012136 dysplastic granulopoesis +HP:0006535 bleeding into lungs recurrent +HP:0006535 hemorrhage intrapulmonary recurrent +HP:0006535 hemorrhage pulmonary recurrent +HP:0031740 abnormal horizontal muscle physiology rectus +HP:0006285 enamel fluorosis tooth +HP:0006285 enamel increased porosity tooth +HP:0006285 enamel mineralized poorly tooth +HP:0006285 enamel hypomineralization +HP:0006285 decreased enamel mineralisation +HP:0006285 enamel lesions spot tooth white +HP:0006285 enamel mottled tooth +HP:0000123 nephritis +HP:0000123 inflammation kidney +HP:0006538 bronchopulmonary infections recurrent +HP:0006538 bronchi infections lungs recurrent +HP:0009663 abnormality epiphysis phalanx proximal thumb +HP:0009663 abnormality bone end innermost long part thumb +HP:0009662 abnormality epiphysis terminal thumb +HP:0009662 abnormality bone end outermost part thumb +HP:0009662 abnormality distal epiphysis phalanx thumb +HP:0009660 bone short thumb +HP:0009660 phalanx short thumb +HP:0009660 hypoplastic phalanges thumb +HP:0009660 phalanges short thumb +HP:0009660 hypoplastic phalanges small thumb +HP:0009667 enlarged epiphysis phalanx proximal thumb +HP:0009667 bone end enlarged innermost long part thumb +HP:0009666 bone cone end innermost long part shaped thumb +HP:0009666 cone epiphysis phalanx proximal shaped thumb +HP:0009665 bracket epiphysis phalanx proximal thumb +HP:0009665 bone bracket end innermost long part shaped thumb +HP:0009664 absent epiphysis phalanx proximal thumb +HP:0009664 absent bone end innermost long part thumb +HP:0009669 bone end innermost irregular long part thumb +HP:0009669 epiphysis irregular phalanx proximal thumb +HP:0009668 bone end fragmentation innermost long part thumb +HP:0009668 epiphysis fragmentation phalanx proximal thumb +HP:0012339 energy expenditure increased resting +HP:0012338 abnormal energy expenditure +HP:0012449 joint sacroiliac synovitis +HP:0012448 delayed myelination +HP:0012447 abnormal myelination +HP:0012446 5 csf low methyltetrahydrofolate +HP:0012446 cerebral deficiency folate +HP:0012333 dysfunction sudomotor sympathetic +HP:0012333 abnormal regulation sudomotor +HP:0012444 atrophy brain +HP:0012444 brain degeneration +HP:0012444 brain wasting +HP:0012443 abnormality brain morphology +HP:0012443 abnormal brain shape +HP:0012443 abnormality brain +HP:0012442 dyskinesia gallbladder +HP:0012441 dysfunction oddi sphincter +HP:0012441 dyskinesia oddi sphincter +HP:0012440 anomaly biliary tract +HP:0012440 abnormal biliary morphology tract +HP:0010959 adenomatoid cystic lung malformation +HP:0010959 adenomatoid cystic disease lung +HP:0010959 cystic disease lung +HP:0011519 anomalous trichromacy +HP:0012139 granulocytic hypoplasia +HP:0010879 cystic hygroma postnatal +HP:0010958 agenesis bilateral renal +HP:0001927 acanthocytes +HP:0001927 acanthocytosis cell red +HP:0001927 acanthocytosis +HP:0001076 glabellar hemangioma +HP:0001076 capillary glabellar hemangioma +HP:0011445 athetoid cerebral palsy +HP:0011445 cerebral dyskinetic palsy +HP:0001075 atrophic scars +HP:0001075 damage due indented or skin sunken to +HP:0001075 atrophic scars thin +HP:0001072 skin thickened +HP:0001072 skin thick +HP:0001072 pachydermia +HP:0001072 diffusely skin thickened +HP:0001073 cigarette paper scars +HP:0001073 cigarette paper scarring +HP:0001070 pigmentation stippled +HP:0001070 mottled pigmentation +HP:0001070 coloring mottled skin +HP:0001071 fabry syndrome +HP:0001071 angiokeratoma corporis diffusum +HP:0200066 corneal degeneration ribbonlike +HP:0001923 blood cells immature increased red +HP:0001923 reticulocytosis +HP:0001923 increased reticulocytes +HP:0001923 blood cells immature increased number red +HP:0001923 count increased reticulocyte +HP:0010957 posterior urethral valve +HP:0010957 posterior urethral valves +HP:0009058 accumulation fat fibers muscle +HP:0009058 lipidosis muscle +HP:0009058 deposits fat fibers muscle +HP:0009058 accumulation lipid muscle skeletal +HP:0009058 content increased lipid muscle +HP:0008043 arterioles constricted retinal +HP:0008043 arterioles narrow retinal +HP:0008043 arteriolar constriction retinal +HP:0008043 arteriolar narrowing retinal +HP:0100869 palms teleangiectases +HP:0100869 palmar telangiectasia +HP:0100869 palms soles telangiectases +HP:0008045 enlarged evoked flash potentials visual +HP:0008045 evoked flash high potentials visual +HP:0008046 abnormality blood retina vessels +HP:0008046 abnormality retinal vasculature +HP:0009059 generalized lipodystrophy +HP:0100865 broad ischia +HP:0100864 femoral neck short +HP:0100864 femoral hypoplastic neck +HP:0100864 femoral necks short +HP:0100864 femoral hypoplasia neck +HP:0100864 neck short thighbone +HP:0100867 atresia duodenal stenosis +HP:0100867 duodenal stenosis +HP:0100866 bones pelvis short +HP:0100866 bones iliac short +HP:0100861 body sclerosis vertebral +HP:0100861 body sclerotic vertebral +HP:0100860 artery dilatation inferior mesenteric +HP:0100860 aneurysm artery inferior mesenteric +HP:0100863 aplasia femoral neck +HP:0100863 absent neck thighbone +HP:0100862 absent femoral head +HP:0100862 aplasia femoral head +HP:0500106 hypertension isolated systolic +HP:0500107 diastolic hypotension isolated +HP:0500104 blood diastolic pressure reduced +HP:0500104 blood decreased diastolic pressure +HP:0500105 blood pressure reduced systolic +HP:0500105 blood decreased pressure systolic +HP:0009274 4th contracture finger joint +HP:0009274 contractures finger fourth joint +HP:0009275 4th contracture distal finger interphalangeal joint +HP:0500100 plasma serum xenobiotic +HP:0500101 fluid gastric xenobiotic +HP:0009278 4th deviation finger ulnar +HP:0009278 deviation finger ring ulnar +HP:0011370 cutaneous fungal infections recurrent +HP:0010956 fetal megacystis +HP:0500108 cocaine positive test urine +HP:0500109 barbiturate positive test urine +HP:0001293 compression cranial nerve +HP:0001290 hypotonia +HP:0001290 generalized hypotonia +HP:0001290 low muscle tone +HP:0001290 decreased muscle tone +HP:0001290 generalized hypotonia muscular +HP:0001291 abnormality cranial nerve +HP:0001291 cranial involvement nerve +HP:0001291 cranial disease nerve +HP:0001291 abnormal cranial morphology nerve +HP:0001291 abnormality cranial nerves +HP:0011541 atrioventricular criss cross valves +HP:0011372 aplasia ear inner +HP:0011372 deformity michel +HP:0011372 aplasia labyrinthine +HP:0011372 absent ear inner +HP:0011372 aplasia labyrinth +HP:0030797 bed central nucleus reduced stria subdivision terminalis volume +HP:0030915 cerebellum oedema +HP:0030915 cerebellum edema +HP:0030915 cerebellar oedema +HP:0030915 cerebellar edema +HP:0030914 abnormal peristalsis +HP:0030917 apgar low score +HP:0100602 eclampsia pre +HP:0100602 preeclampsia +HP:0030911 bifid clitoris +HP:0030913 exaggerated labia majora rugosity +HP:0030913 labia like majora scrotum +HP:0030912 clitoris duplicated +HP:0010207 defects osteolytic phalanges proximal toes +HP:0010207 defect osteolytic phalanx proximal toe +HP:0007834 cataract progressive +HP:0010206 curved phalanx proximal toe +HP:0010206 bones curved innermost toe +HP:0010206 curved phalanges proximal toes +HP:0010955 bladder dilatation +HP:0010205 bone bullet innermost shaped toe +HP:0010205 bullet phalanges proximal shaped toe +HP:0010205 bullet phalanges proximal shaped toes +HP:0010205 bullet phalanx proximal shaped toe +HP:0010756 aplasia bone hypoplasia intermaxillary +HP:0010756 aplasia bone hypoplasia palate primary +HP:0010756 aplasia hypoplasia premaxilla +HP:0011378 ear hypoplasia inner vestibule +HP:0004535 cervical hypertrichosis +HP:0004535 anterior cervical hypertrichosis +HP:0040053 eyelashes long lower +HP:0040053 ciliary eyelashes lower trichomegaly +HP:0040053 eyelashes increased length lower +HP:0040052 abnormality eyelashes lower +HP:0040051 abnormality eyelashes upper +HP:0040050 absence eyelashes partial upper +HP:0040050 eyelashes sparse upper +HP:0040050 eyelashes hypotrichosis upper +HP:0040057 abnormality hair nose +HP:0040057 abnormality hair nasal +HP:0040056 atrichia eyelashes upper +HP:0040056 development eyelashes failure upper +HP:0040056 agenesis eyelashes upper +HP:0040056 aplasia eyelashes upper +HP:0040056 absent eyelashes upper +HP:0040055 decreased eyelashes length lower +HP:0040055 eyelashes lower short +HP:0040054 decreased eyelashes length upper +HP:0040054 eyelashes short upper +HP:0040059 calcification ribs +HP:0010752 cleft mandible +HP:0010752 cleft jaw lower +HP:0010752 cleft mandibular +HP:0009426 3rd distal finger middle symphalangism +HP:0009426 3rd distal finger middle phalanges symphalangism +HP:0009426 bones finger fused middle outermost +HP:0005590 decreased pigmentation spotty +HP:0005590 hypopigmentation spotty +HP:0005590 hypopigmentation patchy +HP:0005592 giant melanocytes melanosomes +HP:0005592 macromelanosomes +HP:0000219 lip thin upper +HP:0000219 lip part red thin upper +HP:0000219 decreased lip upper vermilion volume +HP:0000219 lip thin upper vermilion +HP:0000219 lips thin upper +HP:0000219 decreased lip upper volume +HP:0000219 decreased height lip upper vermilion +HP:0000219 border lip thin upper vermilion +HP:0000218 elevated palate +HP:0000218 arched high palate +HP:0000218 high palate +HP:0000218 height increased palatal +HP:0000215 lip thick upper vermilion +HP:0000215 lip prominent upper +HP:0000215 lip prominent upper vermilion +HP:0000215 lip part red thick upper +HP:0000215 increased lip upper volume +HP:0000215 full lip upper +HP:0000215 border lip thick upper vermilion +HP:0000215 increased lip upper vermilion volume +HP:0000215 height increased lip upper vermilion +HP:0000215 lip plump upper +HP:0000215 full lip upper vermilion +HP:0000215 lip thick upper +HP:0000214 lip telangiectases +HP:0000214 angioectasias lip +HP:0000214 lips telangiectasia +HP:0000214 labial telangiectasia +HP:0000214 lip spider veins +HP:0000214 lip telangiectasia +HP:0000214 angioectasias labial +HP:0000217 xerostomia +HP:0000217 decreased flow salivary +HP:0000217 reduced salivation +HP:0000217 dry mouth syndrome +HP:0000217 dry mouth +HP:0000216 alveolar broad ridge secondary +HP:0000216 alveolar ridges secondary +HP:0000211 trismus +HP:0000211 lockjaw +HP:0000211 jaw limited opening +HP:0000211 decrease mandibular mobility +HP:0000211 decrease jaw mobility +HP:0000211 jaw limited mobility +HP:0000211 decrease mandibular opening +HP:0000211 decrease jaw opening +HP:0000211 decrease jaw movement +HP:0000211 jaw limited movement +HP:0000211 limited mandibular mobility +HP:0000211 limited mouth opening +HP:0000211 limited mandibular opening +HP:0000211 mastication muscles pain +HP:0000211 decrease mandibular movement +HP:0000212 hyperplasia oral soft tissue +HP:0000212 gingival overgrowth +HP:0000212 gum hypertrophy +HP:0000212 gingival hyperplasia +HP:0000212 enlargement gum +HP:0000212 enlargement gingival +HP:0000212 gingival hypertrophy +HP:0030794 abnormal c level peptide +HP:0003740 myotonia phenomenon up warm with +HP:0003741 dystrophy muscular +HP:0200018 red weak +HP:0200018 colorblindness partial protan series +HP:0200018 protanomaly +HP:0011418 abnormal cord insertion umbilical +HP:0011418 previa vasa +HP:0003749 girdle pelvic weakness +HP:0003749 girdle hip muscle weakness +HP:0003749 girdle muscle pelvic weakness +HP:0003749 girdle hip weakness +HP:0005599 hair hypopigmentation +HP:0001928 abnormality coagulation +HP:0001928 abnormal blood clotting +HP:0001928 abnormal blood coagulation studies +HP:0001928 disorders haemorrhagic +HP:0001928 blood coagulation disorder +HP:0001928 abnormalities coagulation +HP:0001929 deficiency factor xi +HP:0001929 activity factor reduced xi +HP:0001929 activity factor low xi +HP:0001924 anemia hypersideremic +HP:0001924 anemia sideroblastic +HP:0031138 abnormal b level natriuretic peptide type +HP:0009682 bone outermost pseudoepiphysis thumb +HP:0009682 distal phalanx pseudoepiphysis thumb +HP:0001920 artery kidney narrowing +HP:0001920 artery renal stenosis +HP:0001922 lymphocytes vacuolated +HP:0001922 blood lymphocytes vacuolated +HP:0001922 enlarged lymphocytes lysosomal vacuoles +HP:0031139 frog leg posture +HP:0010759 anterior bone palate position primary +HP:0010759 bone palate primary prominence +HP:0010759 premaxilla prominence +HP:0010759 bone excess premaxillary +HP:0010759 bone intermaxillary prominence +HP:0010759 anterior position premaxilla +HP:0010758 abnormality intermaxillary maxilla segment +HP:0010758 abnormality bone premaxillary +HP:0010758 abnormality premaxilla +HP:0010758 abnormality bone intermaxillary +HP:0010758 abnormality bone palate primary +HP:0010209 bones fused innermost toes +HP:0010209 affecting phalanges proximal symphalangism toes +HP:0010208 patchy phalanx proximal sclerosis toe +HP:0010208 patchy phalanges proximal sclerosis toes +HP:0010208 bone density increase innermost toe uneven +HP:0010755 deviation jaw upper +HP:0010755 crooked jaw upper +HP:0010755 jaw tilted upper +HP:0010755 canted maxilla +HP:0010755 crooked maxilla +HP:0010755 maxilla uneven +HP:0010755 asymmetry left maxilla right side +HP:0010755 maxilla sides unequal +HP:0010755 jaw uneven upper +HP:0010755 asymmetry maxilla +HP:0010755 maxilla tilted +HP:0010755 asymmetry jaw upper +HP:0010755 canted jaw upper +HP:0010755 deviation maxilla +HP:0010754 jaw joint malformation +HP:0010754 deformity joint temporomandibular +HP:0010754 derangement joint temporomandibular +HP:0010754 abnormality jaw joint +HP:0010754 abnormality joint temporomandibular +HP:0010754 deformity jaw joint +HP:0010754 anomaly joint temporomandibular +HP:0010754 joint malformation temporomandibular +HP:0010757 development failure premaxilla +HP:0010757 bone missing palate primary +HP:0010757 bone development failure palate primary +HP:0010757 missing premaxilla +HP:0010757 absence premaxilla +HP:0010757 aplasia bone palate primary +HP:0010757 absence bone palate primary +HP:0010757 aplasia bone intermaxillary +HP:0010757 absence bone intermaxillary +HP:0010757 aplasia premaxilla +HP:0010878 cystic fetal hygroma +HP:0010751 chin dimples +HP:0010751 chin dimple skin +HP:0010751 butt chin +HP:0010751 chin dent +HP:0010751 chin dimple +HP:0010751 chin gelasin +HP:0010751 chin indentation +HP:0010750 baggy eyes +HP:0010750 dermatochalasia eyelid +HP:0010750 eyelid redundant skin +HP:0010750 dermatochalasis +HP:0010750 eyelids hooding +HP:0010750 droopy eyelid skin +HP:0010750 extra eyelid skin +HP:0010753 cleft mandible midline +HP:0010753 defect mandible midline +HP:0031391 elevated expression ii mhc surface +HP:0001155 abnormal hands +HP:0001155 deformities hand +HP:0001155 abnormality hand +HP:0001155 anomalies hand +HP:0005593 hypopigmented macular patches streaks whorls +HP:0012398 edema peripheral +HP:0031398 cells elevated naive proportion t +HP:0031399 abnormal alpha beta cd4 cd8 cell distribution negative regulatory t +HP:0031399 abnormal distribution dn treg +HP:0031399 abnormal alpha beta cell distribution double negative regulatory t +HP:0031399 abnormal alpha beta cell double negative proportion regulatory t +HP:0031399 abnormal distribution double negative treg +HP:0005597 alopecia totalis +HP:0031394 abnormal cd4 cd8 ratio +HP:0005598 butterfly distribution facial midface telangiectasia +HP:0005598 butterfly facial telangiectasia +HP:0031396 abnormal cells naive proportion t +HP:0031396 abnormal cell naive proportion t +HP:0031397 cells naive proportion reduced t +HP:0031390 expression ii mhc reduced surface +HP:0031136 acrosin decreased head sperm +HP:0031392 abnormal cd4 cells proportion t +HP:0031393 abnormal cd8 cells proportion t