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Amniotic band syndrome refers to a condition in which bands develop from the inner lining of the amnion. The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, the bands may attach to and affect the development of different areas of the body. This may result in constriction of th... | Amniotic band syndrome | c1857578 | 3,800 | gard | https://rarediseases.info.nih.gov/diseases/429/amniotic-band-syndrome | 2021-01-18T18:02:09 | {"mesh": ["C565681"], "omim": ["217100"], "orphanet": ["1034"], "synonyms": ["Amniotic bands sequence", "Familial amniotic bands", "Streeter anomaly", "Congenital constricting bands"]} |
A number sign (#) is used with this entry because of evidence that variation in the SLC45A2 gene (606202) influences skin, hair, and eye pigmentation.
For a general phenotypic description and a discussion of genetic heterogeneity of variation in skin, hair, and eye pigmentation, see 227220.
Mapping
Graf et al. (20... | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5 | c2673584 | 3,801 | omim | https://www.omim.org/entry/227240 | 2019-09-22T16:28:03 | {"mesh": ["C567119"], "omim": ["227240"], "synonyms": ["Alternative titles", "SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR", "SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES", "SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN"]} |
A rare teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.
## Epidemiology
To date, 3 infants/fetuses with anomalies... | Acitretin/etretinate embryopathy | c4510941 | 3,802 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=40366 | 2021-01-23T18:52:52 | {"icd-10": ["Q86.8"], "synonyms": ["Fetal acitretin/etretinate syndrome", "Retinoid embryopathy"]} |
FACES syndrome, also known as Friedman-Goodman syndrome, is a condition that is characterized by unique Facial features, Anorexia, Cachexia (body wasting) and Eye and Skin lesions. The pattern of inheritance and underlying genetic cause of FACES syndrome has not yet been established. FACES syndrome has only been repo... | FACES syndrome | c2931183 | 3,803 | gard | https://rarediseases.info.nih.gov/diseases/2221/faces-syndrome | 2021-01-18T18:00:38 | {"mesh": ["C536384"], "umls": ["C2931183"], "orphanet": ["1969"], "synonyms": ["Facial features (unique), anorexia, cachexia, eye and skin anomalies", "Friedman-Goodman syndrome"]} |
For the Kid Koala album, see Carpal Tunnel Syndrome (album).
Carpal tunnel syndrome
Untreated carpal tunnel syndrome, showing how the muscles at the base of the thumb have wasted away (atrophied)
SpecialtyOrthopedic surgery, plastic surgery
SymptomsPain, numbness, tingling in the thumb, index, middle finger, a... | Carpal tunnel syndrome | c0007286 | 3,804 | wikipedia | https://en.wikipedia.org/wiki/Carpal_tunnel_syndrome | 2021-01-18T19:04:38 | {"mesh": ["D002349"], "umls": ["C0007286"], "wikidata": ["Q332293"]} |
SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydroceph... | SCALP syndrome | None | 3,805 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=370052 | 2021-01-23T17:28:04 | {"icd-10": ["Q84.8"], "synonyms": ["Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome", "Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome"]} |
Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.
## Epidemiology
Kikuchi-Fujimoto disease is an ex... | Kikuchi-Fujimoto disease | c0398367 | 3,806 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=50918 | 2021-01-23T18:29:31 | {"gard": ["6834"], "mesh": ["D020042"], "umls": ["C0398367"], "icd-10": ["I88.1"], "synonyms": ["Histiocytic necrotizing lymphadenitis", "Kikuchi disease"]} |
Alcohol (also known formally as ethanol), found in alcoholic beverages, can exacerbate sleep disturbances. During abstinence, sleep disruption is one of the greatest predictors of relapse.[1]
## Contents
* 1 Moderate alcohol consumption and sleep disruptions
* 2 Alcohol consumption and sleep improvements
* 3 ... | Alcohol use and sleep | None | 3,807 | wikipedia | https://en.wikipedia.org/wiki/Alcohol_use_and_sleep | 2021-01-18T18:36:38 | {"icd-9": ["291.82"], "wikidata": ["Q4713313"]} |
A number sign (#) is used with this entry because of evidence that polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2) is caused by homozygous mutation in the TREM2 gene (605086) on chromosome 6p21.
Description
Polycystic lipomembranous osteodysplasia with sclerosing leukoenc... | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 | c1857316 | 3,808 | omim | https://www.omim.org/entry/618193 | 2019-09-22T15:43:16 | {"mesh": ["C536329"], "omim": ["618193"], "orphanet": ["2770"]} |
A number sign (#) is used with this entry because of evidence that polycystic kidney disease-3 with or without polycystic liver disease (PKD3) is caused by heterozygous mutation in the GANAB gene (104160) on chromosome 11q13.
Description
Polycystic kidney disease-3, a form of autosomal dominant PKD (ADPKD), is char... | POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | c3887964 | 3,809 | omim | https://www.omim.org/entry/600666 | 2019-09-22T16:16:00 | {"doid": ["0110860"], "omim": ["600666"], "orphanet": ["730"], "synonyms": ["Alternative titles", "POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE III", "ADPKD"], "genereviews": ["NBK1246"]} |
Hematuria
Other namesHaematuria, erythrocyturia,[1] blood in the urine
Visible Hematuria
SpecialtyNephrology, Urology
SymptomsBlood in the urine
CausesUrinary tract infection, kidney stone, bladder cancer, kidney cancer
Hematuria or haematuria is defined as the presence of blood or red blood cells in t... | Hematuria | c0018965 | 3,810 | wikipedia | https://en.wikipedia.org/wiki/Hematuria | 2021-01-18T19:06:18 | {"mesh": ["D006417"], "umls": ["C0018965"], "icd-9": ["599.7", "791.2"], "icd-10": ["R31", "N02"], "wikidata": ["Q373597"]} |
Periorbital hyperpigmentation
SpecialtyDermatology
Periorbital hyperpigmentation is characterized by dark circles around the eyes, which are common, often familial, and frequently found in individuals with dark pigmentation or Mediterranean ancestry.[1]:858 Atopic dermatitis patients may also exhibit perio... | Periorbital hyperpigmentation | c1844606 | 3,811 | wikipedia | https://en.wikipedia.org/wiki/Periorbital_hyperpigmentation | 2021-01-18T18:39:23 | {"wikidata": ["Q16964509"]} |
Bleeding into the subarachnoid space
Subarachnoid hemorrhage
Other namesSubarachnoid haemorrhage
CT scan of the brain showing subarachnoid hemorrhage as a white area in the center and stretching into the sulci to either side (marked by the arrow)
Pronunciation
* /ˌsʌbəˈræknɔɪd ˈhɛmərɪdʒ/
Specialt... | Subarachnoid hemorrhage | c0038525 | 3,812 | wikipedia | https://en.wikipedia.org/wiki/Subarachnoid_hemorrhage | 2021-01-18T18:30:20 | {"mesh": ["D013345"], "umls": ["C0038525"], "icd-9": ["430", "852.1", "852.0"], "icd-10": ["I60", "S06.6", "P10.3"], "wikidata": ["Q693442"]} |
Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can... | Blake pouch cyst | None | 3,813 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98922 | 2021-01-23T18:50:31 | {"icd-10": ["Q03.1"]} |
For other uses, see MAT (disambiguation).
Multifocal atrial tachycardia
Other namesChaotic atrial tachycardia[1]
Multifocal atrial tachycardia
Multifocal (or multiform) atrial tachycardia (MAT) is an abnormal heart rhythm,[2] specifically a type of supraventricular tachycardia, that is particularly common i... | Multifocal atrial tachycardia | c0221158 | 3,814 | wikipedia | https://en.wikipedia.org/wiki/Multifocal_atrial_tachycardia | 2021-01-18T18:40:17 | {"gard": ["1235"], "umls": ["C0221158"], "icd-9": ["427.89"], "orphanet": ["3282"], "wikidata": ["Q1165996"]} |
## Clinical Features
Sallis and Beighton (1972) described a new syndrome consisting of flexion deformity of the fingers and 'rocker-bottom' feet due to vertical talus. Fourteen persons in 5 generations were affected but no instance of male-to-male transmission was observed.
Stevenson et al. (1975) described th... | DIGITOTALAR DYSMORPHISM | c1852085 | 3,815 | omim | https://www.omim.org/entry/126050 | 2019-09-22T16:42:15 | {"mesh": ["C565097"], "omim": ["126050"], "orphanet": ["1146"], "synonyms": ["Alternative titles", "ULNAR DRIFT, HEREDITARY"]} |
A number sign (#) is used with this entry because of evidence that nonsyndromic microphthalmia with coloboma-9 (MCOPCB9) and microphthalmia and/or coloboma with developmental delay (MCOPS15) are caused by homozygous mutation in the ODZ3 gene (TENM3; 610083) on chromosome 4q35. One family with MCOPCB9 has been reporte... | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 | c2931501 | 3,816 | omim | https://www.omim.org/entry/615145 | 2019-09-22T15:53:03 | {"mesh": ["C537463"], "omim": ["615145"], "orphanet": ["98938"]} |
A number sign (#) is used with this entry because autoinflammation with infantile enterocolitis (AIFEC) is caused by heterozygous mutation in the NLRC4 gene (606831) on chromosome 2p22.
Description
Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent fl... | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS | c4015067 | 3,817 | omim | https://www.omim.org/entry/616050 | 2019-09-22T15:50:02 | {"omim": ["616050"], "orphanet": ["436166"], "synonyms": ["NLRC4-related MAS", "NLRC4-related autoinflammatory syndrome with MAS", "NLRC4-related autoinflammatory syndrome with macrophage activation syndrome", "NLRC4-related infantile enterocolitis-autoinflammatory syndrome", "NLRC4-related macrophage activation syndro... |
Limbic encephalitis with DPP6 antibodies is a rare brain inflammatory disease characterized by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated sta... | Limbic encephalitis with DPP6 antibodies | None | 3,818 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329341 | 2021-01-23T17:45:16 | {"icd-10": ["G04.8"], "synonyms": ["Limbic encephalitis with DPPX antibodies", "Limbic encephalitis with dipeptidyl-peptidase 6 antibodies"]} |
A number sign (#) is used with this entry because the phenotype can be caused by mutation in the keratin 1 gene (KRT1; 139350) or the keratin 10 gene (KRT10; 148080).
Clinical Features
Sybert et al. (1999) described 4 individuals from 2 families with a unique clinical disorder with histologic findings of epidermoly... | ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS | c0079153 | 3,819 | omim | https://www.omim.org/entry/607602 | 2019-09-22T16:08:59 | {"mesh": ["D017488"], "omim": ["607602"], "orphanet": ["312", "281139"], "synonyms": ["Alternative titles", "CIEHK", "EPIDERMOLYTIC ICHTHYOSIS, ANNULAR"]} |
Acute Retinal Necrosis
SpecialtyOphthalmology, optometry
Acute retinal necrosis (ARN)[1] is a medical inflammatory condition of the eye.[2] The condition presents itself as a necrotizing retinitis.[3] The inflammation onset is due to certain herpes viruses, varicella zoster virus (VZV), herpes simplex virus (H... | Acute retinal necrosis | c0035319 | 3,820 | wikipedia | https://en.wikipedia.org/wiki/Acute_retinal_necrosis | 2021-01-18T18:33:45 | {"mesh": ["D015882"], "umls": ["C0035319"], "wikidata": ["Q4677951"]} |
Somatomammotropinoma is a rare, mixed, functioning pituitary adenoma characterized by the cosecretion of growth hormone and prolactin, which manifests with signs and symptoms of both acromegaly and hyperprolactinemia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: ci... | Somatomammotropinoma | None | 3,821 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314769 | 2021-01-23T18:41:37 | {"icd-10": ["D35.2"], "synonyms": ["GH and PRL cosecreting pituitary adenoma", "Growth hormone and prolactin cosecreting pituitary adenoma", "Somatolactotropinoma", "Somatoprolactinoma"]} |
Darwin's tubercle
Left: Darwin's tubercle. Right: the homologous point in a macaque.
Details
Identifiers
Latintuberculum auriculare
TA98A15.3.01.020
TA2194
FMA61151
Anatomical terminology
[edit on Wikidata]
Darwin's tubercle (helix)
Darwin's tubercle (or auricular tubercle) is a congenita... | Darwin's tubercle | c1852294 | 3,822 | wikipedia | https://en.wikipedia.org/wiki/Darwin%27s_tubercle | 2021-01-18T19:03:53 | {"umls": ["C1852294", "C2751189"], "wikidata": ["Q1166866"]} |
Pudendal nerve entrapment
Other namesAlcock canal syndrome
SpecialtyNeurology
Pudendal nerve entrapment (PNE), also known as Alcock canal syndrome,[1][2] is an uncommon[1][3][4][5] source of chronic pain, in which the pudendal nerve (located in the pelvis) is entrapped or compressed.[6] Pain is positiona... | Pudendal nerve entrapment | c1997249 | 3,823 | wikipedia | https://en.wikipedia.org/wiki/Pudendal_nerve_entrapment | 2021-01-18T18:41:14 | {"gard": ["10713"], "mesh": ["D060545"], "umls": ["C1997249"], "orphanet": ["60039"], "wikidata": ["Q1987592"]} |
Godel et al. (1978) and Godel and Goodman (1981) described an Iraqi-Jewish family in which a son of each of 5 sisters had retinal dysplasia. It is not clear that this is distinct from retinoschisis (312700) of which congenital falciform fold of the retina may be an expression. In Godel's cases the characteristic ... | RETINAL DYSPLASIA, PRIMARY | c3887971 | 3,824 | omim | https://www.omim.org/entry/312550 | 2019-09-22T16:17:18 | {"omim": ["312550"], "orphanet": ["1852"], "synonyms": []} |
Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency.
## Epidemiology
Prevalence is not known. The incidence is approximately 1/250... | Hypohidrotic ectodermal dysplasia with immunodeficiency | c1846006 | 3,825 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98813 | 2021-01-23T18:57:34 | {"gard": ["9936"], "mesh": ["C536181"], "omim": ["300291", "612132"], "umls": ["C1846006"], "icd-10": ["D82.8"], "synonyms": ["Anhidrotic ectodermal dysplasia with immunodeficiency", "EDA-ID", "HED-ID"]} |
A number sign (#) is used with this entry because of evidence that Joubert syndrome-3 (JBTS3) is caused by homozygous mutation in the AHI1 gene (608894) on chromosome 6q23.
For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300).
Clinical Features
Lagier-Toure... | JOUBERT SYNDROME 3 | c1837713 | 3,826 | omim | https://www.omim.org/entry/608629 | 2019-09-22T16:07:36 | {"doid": ["0110998"], "mesh": ["C536295"], "omim": ["608629"], "orphanet": ["220493"], "synonyms": ["JS-O", "Joubert syndrome with retinopathy"], "genereviews": ["NBK1325"]} |
Pleuropulmonary blastoma
Other namesPulmonary blastoma
SpecialtyOncology
Pleuropulmonary blastoma (PPB) is a rare cancer originating in the lung or pleural cavity. It occurs most often in infants and young children[1] but also has been reported in adults.[2] In a retrospective review of 204 children with lun... | Pleuropulmonary blastoma | c1266144 | 3,827 | wikipedia | https://en.wikipedia.org/wiki/Pleuropulmonary_blastoma | 2021-01-18T18:30:05 | {"gard": ["8757"], "mesh": ["C537516"], "umls": ["CN072455"], "orphanet": ["284343", "64742"], "synonyms": ["DICER1 syndrome", "PPB familial tumor susceptibility syndrome", "PPBFTDS", "Pleuro-pulmonary blastoma familial tumor susceptibility syndrome"], "wikidata": ["Q7204815"]} |
Psychiatric factitious disorder
For cases of feigned illness not driven by a psychiatric disorder, see Malingering.
Factitious disorder imposed on self
Other namesMunchausen syndrome[1]
SpecialtyPsychology, Psychiatry
Factitious disorder imposed on self, also known as Munchausen syndrome, is a factitio... | Factitious disorder imposed on self | c0026785 | 3,828 | wikipedia | https://en.wikipedia.org/wiki/Factitious_disorder_imposed_on_self | 2021-01-18T19:10:15 | {"mesh": ["D009110"], "icd-9": ["301.51"], "icd-10": ["F68.1"], "wikidata": ["Q642598"]} |
De Barsy syndrome is a rare genetic disorder originally described in 1968 and classified as a form of cutis laxa. Cutis laxa is characterized by skin that is loose (lax), wrinkled, sagging, and lacking elasticity. The specific symptoms and the severity of De Barsy syndrome can vary greatly. Features that may be s... | De Barsy syndrome | c0268354 | 3,829 | gard | https://rarediseases.info.nih.gov/diseases/49/de-barsy-syndrome | 2021-01-18T18:00:57 | {"mesh": ["C535990"], "omim": ["219150"], "umls": ["C0268354"], "orphanet": ["2962"], "synonyms": ["Corneal clouding, cutis laxa and intellectual disability", "Progeroid syndrome of De Barsy", "Cutis laxa growth deficiency syndrome", "Progeroid syndrome, De Barsy type", "Cutis laxa-corneal clouding-intellectual disabil... |
ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruse... | ZAP70-related severe combined immunodeficiency | c2931299 | 3,830 | medlineplus | https://medlineplus.gov/genetics/condition/zap70-related-severe-combined-immunodeficiency/ | 2021-01-27T08:24:36 | {"gard": ["387"], "mesh": ["C536722"], "omim": ["176947"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that primary microcephaly-11 (MCPH11) is caused by homozygous mutation in the PHC1 gene (602978) on chromosome 12p13. One such family has been reported.
For a phenotypic description and discussion of genetic heterogeneity of primary microcephaly, see MCPH... | MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE | c3711387 | 3,831 | omim | https://www.omim.org/entry/615414 | 2019-09-22T15:52:13 | {"doid": ["0070287"], "mesh": ["C579935"], "omim": ["615414"], "orphanet": ["2512"]} |
A number sign (#) is used with this entry because of evidence that hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is caused by homozygous mutation in the PIGY gene (610662) on chromosome 4q22.
Description
Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisys... | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 | c1855923 | 3,832 | omim | https://www.omim.org/entry/616809 | 2019-09-22T15:47:51 | {"mesh": ["C565495"], "omim": ["616809"], "orphanet": ["247262"], "synonyms": ["Alternative titles", "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12"]} |
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 30 (MC1DN30) is caused by hemizygous mutation in the NDUFB11 gene (300403) on chromosome Xp11. One such patient has been reported.
For a discussion of genetic heterogeneity of mitochondrial complex I de... | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 | c2936907 | 3,833 | omim | https://www.omim.org/entry/301021 | 2019-09-22T16:18:56 | {"mesh": ["C537475"], "omim": ["301021"], "orphanet": ["2609"]} |
Escherichia coli O104:H4 is an enteroaggregative Escherichia coli strain of the bacterium Escherichia coli, and the cause of the 2011 Escherichia coli O104:H4 outbreak.[1] The "O" in the serological classification identifies the cell wall lipopolysaccharide antigen, and the "H" identifies the flagella antigen.
Analy... | Escherichia coli O104:H4 | None | 3,834 | wikipedia | https://en.wikipedia.org/wiki/Escherichia_coli_O104:H4 | 2021-01-18T18:30:56 | {"wikidata": ["Q310454"]} |
A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and prom... | Refractory anemia with excess blasts type 2 | c1318551 | 3,835 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100020 | 2021-01-23T18:00:10 | {"umls": ["C1318551"], "icd-10": ["D46.2"], "synonyms": ["RAEB-2"]} |
Microvascular angina
SpecialtyCardiology
Cardiac syndrome X is a historic term for microvascular angina, angina (chest pain) with signs associated with decreased blood flow to heart tissue but with normal coronary arteries.
The use of the term CSX can lead to the lack of appreciation of how microvascular angi... | Microvascular angina | c0206064 | 3,836 | wikipedia | https://en.wikipedia.org/wiki/Microvascular_angina | 2021-01-18T18:43:21 | {"mesh": ["D017566"], "icd-9": ["413.9"], "icd-10": ["I20.8"], "wikidata": ["Q1540658"]} |
A number sign (#) is used with this entry because of evidence that variation in glycerol release during exercise can be caused by mutation in the AQP7 gene (602974) on chromosome 9p13.3. In addition, there is evidence that variation in body mass index (BMIQ17) is associated with variation in the AQP7 gene.
Molec... | GLYCEROL QUANTITATIVE TRAIT LOCUS | c3280715 | 3,837 | omim | https://www.omim.org/entry/614411 | 2019-09-22T15:55:22 | {"omim": ["614411"], "synonyms": ["Alternative titles", "GLYCEROL RELEASE DURING EXERCISE, DEFECTIVE"]} |
A number sign (#) is used with this entry because this form of limb-girdle muscular dystrophy-dystroglycanopathy (type C1; MDDGC1), also known as LGMDR11 and LGMD2K, is caused by homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1; 607423).
Mutation in the POMT1 gen... | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 | c1836373 | 3,838 | omim | https://www.omim.org/entry/609308 | 2019-09-22T16:06:17 | {"doid": ["0110297"], "mesh": ["D058494"], "omim": ["609308"], "orphanet": ["86812"], "synonyms": ["Alternative titles", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 11", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K"]} |
Dissecting cellulitis of the scalp
Boggy, suppurative nodule with patchy hair loss typical of dissecting cellulitis of the scalp.
SpecialtyDermatology
MedicationIsotretinoin
Dissecting cellulitis of the scalp, also known as dissecting folliculitis of the scalp, perifolliculitis capitis abscedens et suffodi... | Dissecting cellulitis of the scalp | c0263506 | 3,839 | wikipedia | https://en.wikipedia.org/wiki/Dissecting_cellulitis_of_the_scalp | 2021-01-18T18:59:40 | {"gard": ["1883"], "mesh": ["C562486"], "umls": ["C0263506"], "orphanet": ["345"], "wikidata": ["Q7168463"]} |
Alveolar osteitis
Other namesDry socket, fibrinolytic alveolitis
Alveolar osteitis of a socket after tooth extraction of all maxillary teeth; note lack of blood clot in socket and exposed alveolar bone
SpecialtyDentistry
Alveolar osteitis, also known as dry socket, is inflammation of the alveolar bone ... | Alveolar osteitis | c0013240 | 3,840 | wikipedia | https://en.wikipedia.org/wiki/Alveolar_osteitis | 2021-01-18T18:51:01 | {"mesh": ["D004368"], "umls": ["C0013240"], "wikidata": ["Q448753"]} |
Not to be confused with Aboulia.
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (August 2015)
Motivational deficiency disorder is the name of a fake disease imagined for a health campaign to raise awa... | Motivational deficiency disorder | None | 3,841 | wikipedia | https://en.wikipedia.org/wiki/Motivational_deficiency_disorder | 2021-01-18T18:59:20 | {"wikidata": ["Q22907063"]} |
Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson’s disease, pure autonomic failure, dopamine beta-hydrox... | Primary orthostatic hypotension | None | 3,842 | gard | https://rarediseases.info.nih.gov/diseases/12959/primary-orthostatic-hypotension | 2021-01-18T17:58:10 | {"orphanet": ["182058"], "synonyms": ["Neurogenic Orthostatic Hypotension"]} |
Epithelioid sarcoma
Micrograph of an epithelioid sarcoma. H&E stain.
SpecialtyOncology
Epithelioid sarcoma is a rare soft tissue sarcoma arising from mesenchymal tissue and characterized by epithelioid-like features. It accounts for less than 1% of all soft tissue sarcomas. It was first clearly characterized... | Epithelioid sarcoma | c0205944 | 3,843 | wikipedia | https://en.wikipedia.org/wiki/Epithelioid_sarcoma | 2021-01-18T19:00:38 | {"gard": ["10181"], "mesh": ["D012509"], "umls": ["C0205944"], "orphanet": ["293202"], "wikidata": ["Q5383708"]} |
Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including ... | Camptodactyly-fibrous tissue hyperplasia-skeletal dysplasia syndrome | c1859357 | 3,844 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1321 | 2021-01-23T18:56:33 | {"gard": ["1064"], "mesh": ["C537974", "C537287"], "omim": ["211930"], "umls": ["C1859357"], "icd-10": ["Q87.2"], "synonyms": ["Goodman camptodactyly"]} |
Enchondroma
Micrograph of an enchondroma. H&E stain.
An enchondroma is a benign cartilage tumour found inside bones. Typically, enchondroma is discovered on an X-ray scan. Enchondromas have a characteristic appearance on Magnetic Resonance Imaging (MRI) as well. They have also been reported to cause increased ... | Enchondroma | c1704356 | 3,845 | wikipedia | https://en.wikipedia.org/wiki/Enchondroma | 2021-01-18T18:44:07 | {"gard": ["6335"], "mesh": ["D002812"], "wikidata": ["Q1340037"]} |
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (November 2019) (Learn how and when to remove this template message)
Angioid streaks
B... | Angioid streaks | c0002982 | 3,846 | wikipedia | https://en.wikipedia.org/wiki/Angioid_streaks | 2021-01-18T19:10:12 | {"mesh": ["D000793"], "umls": ["C0002982"], "wikidata": ["Q4763261"]} |
Polydactyly myopia syndrome is characterized by postaxial polydactyly (the presence of an extra digit on the side of the hand or foot by the pinky or small toe) and progressive myopia. This condition was originally described in 9 persons in 4 generations of a family in Hungary in 1986. Family history suggests aut... | Polydactyly myopia syndrome | c1868117 | 3,847 | gard | https://rarediseases.info.nih.gov/diseases/4413/polydactyly-myopia-syndrome | 2021-01-18T17:58:15 | {"mesh": ["C536331"], "omim": ["174310"], "orphanet": ["2917"], "synonyms": ["PMS", "Postaxial Polydactyly with progressive myopia", "Czeizel Brooser syndrome", "Postaxial polydactyly-progressive myopia syndrome"]} |
For the juvenile onset form see Systemic-onset juvenile idiopathic arthritis.
Adult-onset Still's disease
SpecialtyRheumatology
Adult-onset Still's disease (AOSD) is a form of Still's disease, a rare systemic autoinflammatory disease characterized by the classic triad of fevers, joint pain, and a distincti... | Adult-onset Still's disease | c0085253 | 3,848 | wikipedia | https://en.wikipedia.org/wiki/Adult-onset_Still%27s_disease | 2021-01-18T18:34:00 | {"gard": ["436"], "mesh": ["D016706"], "umls": ["C0085253"], "icd-9": ["714.2"], "orphanet": ["829"], "wikidata": ["Q1187697"]} |
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses... | Paroxysmal nocturnal hemoglobinuria | c0024790 | 3,849 | gard | https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria | 2021-01-18T17:58:26 | {"mesh": ["D006457"], "omim": ["300818", "615399"], "umls": ["C0024790"], "orphanet": ["447"], "synonyms": ["PNH", "Marchiafava-Micheli disease"]} |
Aural cholesteatoma is an abnormal accumulation of keratin-producing squamous epithelium in the middle ear, epitympanum, mastoid, or petrous apex (Arriaga, 1994). The misnomer 'cholesteatoma' originated from the erroneous assumption that the mass represented a cystic tumor of cholesterol and fat. The original term ha... | CHOLESTEATOMA, CONGENITAL | c0395886 | 3,850 | omim | https://www.omim.org/entry/604183 | 2019-09-22T16:12:30 | {"mesh": ["C562858"], "omim": ["604183"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Hydrothorax" – news · newspapers · books ·... | Hydrothorax | c0020312 | 3,851 | wikipedia | https://en.wikipedia.org/wiki/Hydrothorax | 2021-01-18T18:50:33 | {"mesh": ["D006876"], "umls": ["C0020312"], "icd-9": ["511.8"], "icd-10": ["J94.8"], "wikidata": ["Q1505538"]} |
## Clinical Features
Tariq et al. (2006) reported a consanguineous family from a region bordering Pakistan and India in which 4 sibs had nonsyndromic, prelingual profound hearing impairment involving all frequencies.
Mapping
By genomewide linkage analysis followed by fine mapping in a consanguineous family se... | DEAFNESS, AUTOSOMAL RECESSIVE 65 | c1853248 | 3,852 | omim | https://www.omim.org/entry/610248 | 2019-09-22T16:04:55 | {"doid": ["0110516"], "mesh": ["C565211"], "omim": ["610248"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"]} |
Corneal abrasion
A corneal abrasion after staining with fluorescein, it is the green mark on the eye.
SpecialtyEmergency medicine
SymptomsEye pain, light sensitivity[1]
Usual onsetRapid[2]
DurationLess than 3 days[1]
CausesMinor trauma, contact lens use[1]
Diagnostic methodSlit lamp exam[1]
Differenti... | Corneal abrasion | c0010032 | 3,853 | wikipedia | https://en.wikipedia.org/wiki/Corneal_abrasion | 2021-01-18T18:54:50 | {"icd-9": ["918.1"], "icd-10": ["S05.0"], "wikidata": ["Q3510332"]} |
A number sign (#) is used with this entry because of evidence that anterior segment dysgenesis-2 (ASGD2) is caused by homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene (601094) on chromosome 1p33.
Description
Anterior segment dysgeneses are a heterogeneous group of developmental diso... | ANTERIOR SEGMENT DYSGENESIS 2 | c1853230 | 3,854 | omim | https://www.omim.org/entry/610256 | 2019-09-22T16:04:54 | {"doid": ["11367"], "mesh": ["C537786"], "omim": ["610256"], "orphanet": ["83461"], "synonyms": ["Alternative titles", "APHAKIA, CONGENITAL PRIMARY", "CPA"]} |
Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function.
Most people with combined oxidative phosphorylation deficiency 1 have severe brain dysfunction (encephalopathy) that worsens over time; they also have difficulty growing and gaining weight at... | Combined oxidative phosphorylation deficiency 1 | c1836797 | 3,855 | medlineplus | https://medlineplus.gov/genetics/condition/combined-oxidative-phosphorylation-deficiency-1/ | 2021-01-27T08:25:53 | {"mesh": ["C563797"], "omim": ["609060"], "synonyms": []} |
Red ear syndrome
A red ear syndrome attack, with affected ear on the left
Red ear syndrome (RES) is a rare disorder of unknown etiology which was originally described in 1994. The defining symptom of red ear syndrome is redness of one or both external ears, accompanied by a burning sensation.[1] A variety of t... | Red ear syndrome | c4324534 | 3,856 | wikipedia | https://en.wikipedia.org/wiki/Red_ear_syndrome | 2021-01-18T18:29:32 | {"umls": ["CL519458"], "wikidata": ["Q7305317"]} |
8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.
## Epidemiology
T... | 8q21.11 microdeletion syndrome | c3280231 | 3,857 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284160 | 2021-01-23T19:06:32 | {"omim": ["614230"], "icd-10": ["Q93.5"], "synonyms": ["Del(8)(q21.11)", "Deletion 8q21.11", "Monosomy 8q21.11"]} |
Hyperbetaalaninemia is a very rare metabolic condition. Hyperbetaalaninemia refers to the build-up of protein building blocks, called beta amino acids, in the body. The excess beta amino acids are neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia include convulsions (rapid and uncontrollable shaking),... | Hyperbetaalaninemia | c0268630 | 3,858 | gard | https://rarediseases.info.nih.gov/diseases/10267/hyperbetaalaninemia | 2021-01-18T17:59:56 | {"mesh": ["C562684"], "omim": ["237400"], "umls": ["C0268630"], "orphanet": ["309147"], "synonyms": ["Hyperalaninemia", "Hyper-beta-alaninemia"]} |
## Summary
### Clinical characteristics.
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. ... | Cerebral Cavernous Malformation, Familial | c2931263 | 3,859 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1293/ | 2021-01-18T21:36:10 | {"mesh": ["C536610"], "synonyms": ["Familial Cavernous Hemangioma", "Familial Cerebral Cavernous Angioma", "Familial Cerebral Cavernous Malformation"]} |
A number sign (#) is used with this entry because of evidence that Adams-Oliver syndrome-2 (AOS2) is caused by homozygous or compound heterozygous mutation in the DOCK6 gene (614194) on chromosome 19p13.
Description
Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized... | ADAMS-OLIVER SYNDROME 2 | c0265268 | 3,860 | omim | https://www.omim.org/entry/614219 | 2019-09-22T15:56:00 | {"doid": ["0060227"], "omim": ["614219"], "orphanet": ["974"], "genereviews": ["NBK355754"]} |
A number sign (#) is used with this entry because of evidence that spastic quadriplegic cerebral palsy-3 (CPSQ3) is caused by homozygous mutation in the ADD3 gene (601568) on chromosome 10q24. One such family has been reported.
For a discussion of genetic heterogeneity of CPSQ, see CPSQ1 (603513).
Clinical Features... | CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 | c2751938 | 3,861 | omim | https://www.omim.org/entry/617008 | 2019-09-22T15:47:14 | {"mesh": ["C567853"], "omim": ["603513", "617008"], "orphanet": ["210141"], "synonyms": ["Inherited congenital spastic quadriplegia", "Spastic quadriplegic cerebral palsy"]} |
Typhoid or typhoid fever is a reportable, fecal-oral, potentially fatal infectious disease, caused by the bacteria Salmonella typhi and characterized by a non-focal fever.
## Epidemiology
The prevalence of typhoid is unknown but it is most commonly found in Asia, Africa and South America where access to properly tr... | Typhoid | c0041466 | 3,862 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99745 | 2021-01-23T17:12:57 | {"gard": ["9564"], "mesh": ["D014435"], "umls": ["C0041466"], "icd-10": ["A01.0"], "synonyms": ["Typhoid fever", "Typhoidal salmonellosis"]} |
For other uses, see Locoweed (disambiguation).
Plant that produces swainsonine, a phytotoxin harmful to livestock
Locoweed (also crazyweed and loco) is a common name in North America for any plant that produces swainsonine, a phytotoxin harmful to livestock. Worldwide, swainsonine is produced by a small number of s... | Locoweed | c0275191 | 3,863 | wikipedia | https://en.wikipedia.org/wiki/Locoweed | 2021-01-18T18:47:41 | {"umls": ["C0275191"], "wikidata": ["Q1128527"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 (137800).
Mapping
Working from the hypothesis that coinheritance of low-risk variants contributes to the 2-fold increased risk of glioma in relatives of individuals with primary brain tumors, Shete et al. (2009) c... | GLIOMA SUSCEPTIBILITY 7 | c0017638 | 3,864 | omim | https://www.omim.org/entry/613032 | 2019-09-22T15:59:55 | {"mesh": ["D005910"], "omim": ["613032"], "orphanet": ["182067"]} |
"CTCL" redirects here. For the book by Loren Pope, see Colleges That Change Lives.
Cutaneous T cell lymphoma
Micrograph showing cutaneous T-cell lymphoma. H&E stain.
SpecialtyHematology and oncology
Cutaneous T cell lymphoma (CTCL) is a class of non-Hodgkin lymphoma, which is a type of cancer of the immune ... | Cutaneous T cell lymphoma | c0079773 | 3,865 | wikipedia | https://en.wikipedia.org/wiki/Cutaneous_T_cell_lymphoma | 2021-01-18T19:09:02 | {"gard": ["6226"], "mesh": ["D016410"], "umls": ["C0079773"], "icd-9": ["202.1", "202.2"], "icd-10": ["C84.8", "C84.1", "C84.0"], "orphanet": ["171901"], "wikidata": ["Q5196687"]} |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. There have been... | Dahlberg-Borer-Newcomer syndrome | c1855477 | 3,866 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1563 | 2021-01-23T19:03:48 | {"gard": ["237"], "mesh": ["C535769"], "omim": ["247410"], "umls": ["C1855477"], "icd-10": ["Q87.8"], "synonyms": ["Dahlberg syndrome", "Lymphedema-hypoparathyroidism syndrome"]} |
Roseola vaccinia
SpecialtyDermatology
Roseola vaccinia is a cutaneous condition characterized by a prominent rim of erythema surrounding the site of vaccinia injection.[1]:393
## See also[edit]
* Vaccinia
* Skin lesion
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). And... | Roseola vaccinia | None | 3,867 | wikipedia | https://en.wikipedia.org/wiki/Roseola_vaccinia | 2021-01-18T18:39:55 | {"wikidata": ["Q7368625"]} |
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.
## Epidemiology
Nine cases have been reported in the literature in seven families.
## Clinical description
Some patients have associat... | Hypertelorism-microtia-facial clefting syndrome | c0220742 | 3,868 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2213 | 2021-01-23T18:50:28 | {"gard": ["897"], "mesh": ["C537632"], "omim": ["239800"], "umls": ["C0220742"], "icd-10": ["Q87.0"], "synonyms": ["Bixler-Christian-Gorlin syndrome", "HMC syndrome"]} |
A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart ... | Goodman syndrome | c0265303 | 3,869 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=65798 | 2021-01-23T18:52:47 | {"gard": ["2549"], "mesh": ["C537287"], "omim": ["201020"], "umls": ["C0265303"], "icd-10": ["Q87.0"], "synonyms": ["ACPS4", "Acrocephalopolysyndactyly type 4"]} |
Epidermolysis bullosa simplex due to BP230 deficiency is a rare, hereditary, basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimetres big.
*[v]:... | Epidermolysis bullosa simplex due to BP230 deficiency | c3809470 | 3,870 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=412181 | 2021-01-23T19:02:56 | {"omim": ["615425"], "icd-10": ["Q81.0"], "synonyms": ["DST-related epidermolysis bullosa simplex", "EBS-AR BP230"]} |
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, glo... | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | c2751320 | 3,871 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=330054 | 2021-01-23T17:09:54 | {"gard": ["10522"], "mesh": ["C567769"], "omim": ["613076"], "umls": ["C2751320"], "icd-10": ["G71.3"], "synonyms": ["Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome"]} |
A rare form of chronic cutaneous lupus erythematosus characterized by erythematous, scaly papules and plaques preferentially occurring on sun-exposed skin areas (scalp, face, and ears) and exhibiting follicular plugging, pigmentary changes, and central atrophy, scarring, and telangiectasia. Skin biopsy shows a periva... | Discoid lupus erythematosus | c0024138 | 3,872 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90281 | 2021-01-23T18:31:32 | {"mesh": ["D008179"], "umls": ["C0024138"], "icd-10": ["L93.0"]} |
A rare, syndromic, benign, epidemal nevus syndrome characterized by the association of a Becker nevus (i.e. circumscribed, unilateral, irregularly shaped, hyperpigmented macules, with or without hypertrichosis and/or acneiform lesions, occuring predominantly on the anterior upper trunk or scapular region) with ipsila... | Becker nevus syndrome | c0263579 | 3,873 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=64755 | 2021-01-23T19:05:35 | {"gard": ["3856", "5901"], "omim": ["604919"], "umls": ["C0263579", "C1858042"], "icd-10": ["D22.5"], "synonyms": ["Pigmentary hairy epidermal nevus"]} |
A number sign (#) is used with this entry because of evidence that pain sensitivity quantitative trait locus-1 (PAINQTL1) is caused by a contiguous gene deletion on chromosome 1p33 affecting the FAAHP1 gene (618375). The pain insensitivity phenotype can be modified by the simultaneous presence of a polymorphism in th... | PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1 | c0344307 | 3,874 | omim | https://www.omim.org/entry/618377 | 2019-09-22T15:42:13 | {"omim": ["618377"], "synonyms": ["Alternative titles", "INSENSITIVITY TO PAIN"]} |
CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features inclu... | CADDS | c1845408 | 3,875 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=369942 | 2021-01-23T19:00:58 | {"gard": ["12472"], "mesh": ["C564508"], "omim": ["300475"], "umls": ["C1845408"], "icd-10": ["Q87.8"], "synonyms": ["Contiguous ABCD1 DXS1357E deletion syndrome", "Zellweger-like contiguous gene deletion syndrome"]} |
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This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citations. Please help to imp... | Monostotic fibrous dysplasia | c0016064 | 3,876 | wikipedia | https://en.wikipedia.org/wiki/Monostotic_fibrous_dysplasia | 2021-01-18T19:09:10 | {"mesh": ["D005358"], "umls": ["C0016064"], "icd-9": ["733.29"], "icd-10": ["M85.0"], "orphanet": ["93277"], "wikidata": ["Q6901991"]} |
## Clinical Features
Ouvrier and Billson (1988), followed by Ahn et al. (1989), Deonna et al. (1990) and Echenne and Rivier (1992), described a 'new' paroxysmal disorder of childhood, the main features of which are bouts of tonic upward deviation of the eyes associated with ataxia. Long-term outcome is favorabl... | PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA | c1868576 | 3,877 | omim | https://www.omim.org/entry/168885 | 2019-09-22T16:36:31 | {"mesh": ["C566817"], "omim": ["168885"], "orphanet": ["1179"]} |
Holmes tremor, first identified by Gordon Holmes in 1904, can be described as a wing-beating movement localized in the upper body that is caused by cerebellar damage.[1] Holmes tremor is a combination of rest, action, and postural tremors. Tremor frequency ranges from 2 to 5 Hertz and is aggravated with posture and m... | Holmes tremor | c0750940 | 3,878 | wikipedia | https://en.wikipedia.org/wiki/Holmes_tremor | 2021-01-18T18:38:04 | {"mesh": ["D001259"], "wikidata": ["Q5883653"]} |
Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gr... | Generalized basaloid follicular hamartoma syndrome | c1853919 | 3,879 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=168632 | 2021-01-23T18:54:42 | {"mesh": ["C565284"], "omim": ["605827"], "umls": ["C1853919"], "icd-10": ["Q82.5"]} |
A man urinating while cycling in the 1989 Race Across America
Athletic incontinence (athletic leakage, athletic leaks, exercise-induced urinary incontinence) is the specific form of urinary incontinence that results from engaging in high-impact or strenuous activities. Unlike stress incontinence, which is defined as... | Athletic incontinence | None | 3,880 | wikipedia | https://en.wikipedia.org/wiki/Athletic_incontinence | 2021-01-18T19:05:36 | {"wikidata": ["Q17014021"]} |
Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.
## Epidemiology
Less than ten cases have been reported so far.
## Clinical description
Three of the reported patients manifested multiple odontomas. Occasionally, c... | Odontomatosis-aortae esophagus stenosis syndrome | c1834013 | 3,881 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2724 | 2021-01-23T18:44:14 | {"gard": ["238"], "mesh": ["C537740"], "omim": ["164330"], "umls": ["C1834013"], "synonyms": ["Boder syndrome"]} |
Genetic disorder resulting in abnormal enamel
Amelogenesis imperfecta
Amelogenesis imperfecta, hypoplastic type. Note the association of pitted enamel and open bite.
SpecialtyDentistry
Amelogenesis imperfecta (AI) is a congenital disorder which presents with a rare abnormal formation of the enamel[1] or ext... | Amelogenesis imperfecta | c0002452 | 3,882 | wikipedia | https://en.wikipedia.org/wiki/Amelogenesis_imperfecta | 2021-01-18T19:03:03 | {"gard": ["5791"], "mesh": ["D000567"], "umls": ["C0002452"], "orphanet": ["88661"], "wikidata": ["Q461854"]} |
Iridogoniodysgenesis, dominant type
Iridogoniodysgenesis, dominant type is inherited via autosomal dominant manner[1]
Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the irido-corneal angle of the anterior chamber of the eye. Iridogonio... | Iridogoniodysgenesis, dominant type | c1842031 | 3,883 | wikipedia | https://en.wikipedia.org/wiki/Iridogoniodysgenesis,_dominant_type | 2021-01-18T18:35:57 | {"mesh": ["C535536"], "umls": ["C1842031"], "orphanet": ["98634", "91483"], "wikidata": ["Q17125601"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive nonsyndromic deafness-24 (DFNB24) is caused by homozygous mutation in the gene encoding radixin (RDX; 179410) on chromosome 11q22.
Clinical Features
Khan et al. (2007) reported 3 Pakistani families with isolated autosomal rec... | DEAFNESS, AUTOSOMAL RECESSIVE 24 | c1970239 | 3,884 | omim | https://www.omim.org/entry/611022 | 2019-09-22T16:03:50 | {"doid": ["0110482"], "mesh": ["C567027"], "omim": ["611022"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"], "genereviews": ["NBK14... |
Carnitine palmitoyltransferase II deficiency
Other namesCPT-II, CPT2
Carnitine
SpecialtyEndocrinology
Carnitine palmitoyltransferase II deficiency is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transporte... | Carnitine palmitoyltransferase II deficiency | c0342790 | 3,885 | wikipedia | https://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency | 2021-01-18T18:52:23 | {"gard": ["1121"], "mesh": ["C535589"], "umls": ["C0342790"], "orphanet": ["157"], "wikidata": ["Q2033861"]} |
Megalencephalic leukoencephalopathy with subcortical cysts
Other namesVacuolating megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of hereditary CNS demyelinating disease. It belongs to a group of... | Megalencephalic leukoencephalopathy with subcortical cysts | c1858854 | 3,886 | wikipedia | https://en.wikipedia.org/wiki/Megalencephalic_leukoencephalopathy_with_subcortical_cysts | 2021-01-18T18:40:16 | {"gard": ["3445"], "mesh": ["C536141"], "icd-10": ["E75.2"], "orphanet": ["2478"], "wikidata": ["Q3237080"]} |
Congenital disorder of glycosylation type Ia (CDG-Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with CDG-Ia vary widely among affected individuals, sometimes even among members of the same family. Signs and symptoms are typically evident in infancy... | PMM2-CDG (CDG-Ia) | c0349653 | 3,887 | gard | https://rarediseases.info.nih.gov/diseases/9826/pmm2-cdg-cdg-ia | 2021-01-18T17:58:17 | {"mesh": ["C535739"], "omim": ["212065"], "umls": ["C0349653"], "orphanet": ["79318"], "synonyms": ["CDG 1A", "CDG1A", "Jaeken syndrome", "Carbohydrate-deficient glycoprotein syndrome type 1A", "Phosphomannomutase 2 deficiency", "Carbohydrate-deficient glycoprotein syndrome type 1A (formerly)", "Congenital disorder of ... |
Hyperacusis is a hearing disorder that results in difficulty tolerating sounds that would not bother most people. This condition may occur due to many different causes, such as head injury, viral infections, or neurological disorders. In some people with hyperacusis, sounds are perceived as being much louder than the... | Hyperacusis | c0034880 | 3,888 | gard | https://rarediseases.info.nih.gov/diseases/9655/hyperacusis | 2021-01-18T17:59:56 | {"mesh": ["D012001"], "synonyms": ["Low tolerance to sound"]} |
For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy (JME), see 254770. JME is a form of idiopathic generalized epilepsy (IGE; 600669).
Clinical Features
Kapoor et al. (2007) reported a family from southern India in which 8 individuals had juvenile myoclonic epilepsy... | MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4 | c0270853 | 3,889 | omim | https://www.omim.org/entry/611364 | 2019-09-22T16:03:23 | {"doid": ["0111327"], "mesh": ["D020190"], "omim": ["611364"], "orphanet": ["307"]} |
This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citations. Please help to improve this article by introducing more precise citations. (March 2016) (Learn how and when to remove this template message)
Moore's lightning streaks a... | Moore's lightning streaks | None | 3,890 | wikipedia | https://en.wikipedia.org/wiki/Moore%27s_lightning_streaks | 2021-01-18T18:33:26 | {"wikidata": ["Q6908107"]} |
Disorder of written expression
SpecialtyNeurology
Disorder of written expression is a type of learning disability in which a person’s writing ability falls substantially below normally expected range based on the individual’s age, educational background, and measured intelligence. Poor writing skills must ... | Disorder of written expression | c0236825 | 3,891 | wikipedia | https://en.wikipedia.org/wiki/Disorder_of_written_expression | 2021-01-18T18:31:06 | {"icd-9": ["315.2"], "icd-10": ["F81.1"], "wikidata": ["Q5282510"]} |
## Clinical Features
Onwukwe et al. (1973) described a family in which multiple members of 4 generations and by inference a fifth, in a pattern consistent with autosomal dominant inheritance (including male-to-male transmission), had persistent, asymptomatic, yellowish-white, translucent papules and plaques on ... | ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT | c1863343 | 3,892 | omim | https://www.omim.org/entry/101840 | 2019-09-22T16:45:28 | {"mesh": ["C566323"], "omim": ["101840"]} |
HEC syndrome
Other namesHydrocephalus-endocardial fibroelastosis-cataract syndrome
HEC syndrome is a syndrome characterized by hydrocephalus, endocardial fibroelastosis and cataracts.[1]
## References[edit]
1. ^ Devi A, Eisenfeld L, Uphoff D, Greenstein R (1995). "New syndrome of hydrocephalus, endocardial... | HEC syndrome | c1833607 | 3,893 | wikipedia | https://en.wikipedia.org/wiki/HEC_syndrome | 2021-01-18T18:39:19 | {"gard": ["2620"], "mesh": ["C535855"], "umls": ["C1833607"], "orphanet": ["2119"], "wikidata": ["Q5629424"]} |
Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit thi... | Cataract-ataxia-deafness syndrome | c0796123 | 3,894 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1368 | 2021-01-23T18:46:07 | {"gard": ["1141"], "mesh": ["C538283"], "omim": ["212710"], "umls": ["C0796123"], "icd-10": ["G11.2"], "synonyms": ["Cataract-ataxia-hearing loss syndrome"]} |
Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and... | Subaortic course of innominate vein | c4707821 | 3,895 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99113 | 2021-01-23T16:55:48 | {"icd-10": ["Q26.8"], "synonyms": ["Subaortic course of brachiocephalic vein"]} |
Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforatio... | Extranodal nasal NK/T cell lymphoma | c0018197 | 3,896 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86879 | 2021-01-23T18:29:56 | {"mesh": ["D054391", "D006103"], "umls": ["C0018197", "C0392788"], "icd-10": ["C86.0"], "synonyms": ["Angiocentric T-cell lymphoma", "Lethal midline granuloma", "NK/T-cell lymphoma", "NKTCL", "Nasal T/natural killer-cell lymphoma"]} |
Papillary stenosis is a disturbance of the sphincter of Oddi, a muscular valve, that prevents the opening and release of bile or pancreatic fluids into the duodenum in response to food entering the duodenum.
Obstruction of the valve can cause:
* pancreatic pain
* jaundice - bile leaking back into the blood stre... | Papillary stenosis | c0238340 | 3,897 | wikipedia | https://en.wikipedia.org/wiki/Papillary_stenosis | 2021-01-18T18:44:12 | {"umls": ["C0941093"], "wikidata": ["Q7132988"]} |
A number sign (#) is used with this entry because autosomal dominant hypogonadotropic hypogonadism-6 with or without anosmia (HH6) is caused by heterozygous mutation in the fibroblast growth factor-8 gene (FGF8; 600483) on chromosome 10q24, sometimes in association with mutation in another gene, e.g., FGFR1 (136350).... | HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA | c0162809 | 3,898 | omim | https://www.omim.org/entry/612702 | 2019-09-22T16:00:44 | {"doid": ["0090086"], "mesh": ["D017436"], "omim": ["612702"], "orphanet": ["432", "478"], "synonyms": ["Gonadotropic deficiency", "Isolated congenital gonadotropin deficiency", "Normosmic idiopathic hypogonadotropic hypogonadism", "nIHH"], "genereviews": ["NBK1334"]} |
This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (February 2019) (Learn how and when to remove this template message)
Robertsonian translocation (ROB) is a chromosomal abnormality wherein a c... | Robertsonian translocation | c0333715 | 3,899 | wikipedia | https://en.wikipedia.org/wiki/Robertsonian_translocation | 2021-01-18T18:39:54 | {"wikidata": ["Q2914875"]} |
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