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N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.
## Epidemiology
The disorder is very rare but the prevalence is unknown.
## Clinical description
Onset occurs at any age, but neonatal presentation appears to be the most frequent. The clinical manifestations are... | Hyperammonemia due to N-acetylglutamate synthase deficiency | c0268543 | 30,100 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=927 | 2021-01-23T18:30:16 | {"gard": ["7158"], "mesh": ["C536109"], "omim": ["237310"], "umls": ["C0268543"], "icd-10": ["E72.2"], "synonyms": ["NAGS deficiency"]} |
This article is about skin changes that occur in hypothyroidism. The word myxedema was historically used to refer hypothyroidism in general. For the related medical emergency, see myxedema coma.
Myxedema
Other namesMyxoedema
Hyaluronan, an example of a mucopolysaccharide
SpecialtyEndocrinology
Myxedema is... | Myxedema | c0027145 | 30,101 | wikipedia | https://en.wikipedia.org/wiki/Myxedema | 2021-01-18T18:35:51 | {"mesh": ["D009230"], "umls": ["C0027145"], "icd-9": ["244.9"], "wikidata": ["Q966229"]} |
Pulmonary artery coming from patent ductus arteriosus is a rare, congenital, non-syndromic heart malformation characterized by the presence of a single (or a double) patent ductus arteriosus which associates one or both pulmonary arteries originating from it. Manifestations are variable, frequently presenting wit... | Pulmonary artery coming from patent ductus arteriosus | None | 30,102 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99049 | 2021-01-23T16:53:38 | {"icd-10": ["Q25.7"]} |
Temtamy and McKusick (1978) described mother and son. See 129900.
Limbs \- Ectrodactyly \- Split hand \- Split foot Inheritance \- Autosomal dominant Teeth \- Hypodontia ▲ Close
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]:... | SPLIT-HAND AND SPLIT-FOOT WITH HYPODONTIA | c1866742 | 30,103 | omim | https://www.omim.org/entry/183500 | 2019-09-22T16:34:29 | {"mesh": ["C566665"], "omim": ["183500"]} |
Chronic inflammatory demyelinating polyneuropathy
Other namesCIDP
SpecialtyNeurology
Chronic inflammatory demyelinating polyneuropathy is an acquired immune-mediated inflammatory disorder of the peripheral nervous system characterized by progressive weakness and impaired sensory function in the legs and arms... | Chronic inflammatory demyelinating polyneuropathy | c0393819 | 30,104 | wikipedia | https://en.wikipedia.org/wiki/Chronic_inflammatory_demyelinating_polyneuropathy | 2021-01-18T19:04:40 | {"gard": ["6102"], "mesh": ["D020277"], "umls": ["C0393819"], "orphanet": ["2932"], "wikidata": ["Q1088030"]} |
A number sign (#) is used with this entry because diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMSMFH) is caused by heterozygous mutation in the MTAP gene (156540) on chromosome 9p21.
Description
Diaphyseal medullary stenosis with malignant fibrous histiocytoma is an autosomal dominant bon... | DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA | c1300202 | 30,105 | omim | https://www.omim.org/entry/112250 | 2019-09-22T16:44:10 | {"omim": ["112250"], "orphanet": ["85182"], "synonyms": ["Alternative titles", "BONE DYSPLASIA WITH MEDULLARY FIBROSARCOMA", "BONE DYSPLASIA WITH MALIGNANT FIBROUS HISTIOCYTOMA", "MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY"]} |
Adenomatoid odontogenic tumor
SpecialtyDentistry
The adenomatoid odontogenic tumor is an odontogenic tumor[1] arising from the enamel organ or dental lamina.
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 Treatment
* 4 Epidemiology
* 5 References
* 6 External links
## Signs and symptoms[ed... | Adenomatoid odontogenic tumor | c0334565 | 30,106 | wikipedia | https://en.wikipedia.org/wiki/Adenomatoid_odontogenic_tumor | 2021-01-18T18:40:18 | {"mesh": ["C538229"], "umls": ["C0334565"], "wikidata": ["Q4682247"]} |
Constipation in children
SpecialtyPediatrics
Constipation in children refers to the medical condition of constipation in children. It is a functional gastrointestinal disorder.
## Contents
* 1 Presentation
* 2 Causes
* 2.1 Congenital causes
* 3 Diagnosis
* 4 Treatment
* 5 Epidemiology
* 6... | Constipation in children | c3826517 | 30,107 | wikipedia | https://en.wikipedia.org/wiki/Constipation_in_children | 2021-01-18T18:39:28 | {"wikidata": ["Q39054873"]} |
For other uses, see Ptosis (disambiguation).
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Visceroptosis" – news · newspapers · books · scholar · JSTOR (August 2007... | Visceroptosis | c0042783 | 30,108 | wikipedia | https://en.wikipedia.org/wiki/Visceroptosis | 2021-01-18T19:02:38 | {"mesh": ["D014782"], "icd-9": ["569.89"], "icd-10": ["K63.4"], "wikidata": ["Q5420556"]} |
High leather boots worn in an overt sexual context.
Man wearing high boots over jeans
Typical pair of modern women's fashion boots in black leather.
Knee-high ballet boots, impractical boots made expressly for their sexual appeal.
A model wearing boots.
Boot fetishism is a sexual fetish focused on boots. Boo... | Boot fetishism | None | 30,109 | wikipedia | https://en.wikipedia.org/wiki/Boot_fetishism | 2021-01-18T18:29:52 | {"wikidata": ["Q3092561"]} |
Neurodegeneration with brain iron accumulation
Other namesNBIA
SpecialtyNeurology
Neurodegeneration with brain iron accumulation is a heterogenous group of inherited neurological disorders, still under research, in which iron accumulates in the basal ganglia, either resulting in progressive dystonia, Par... | Neurodegeneration with brain iron accumulation | c2931845 | 30,110 | wikipedia | https://en.wikipedia.org/wiki/Neurodegeneration_with_brain_iron_accumulation | 2021-01-18T18:46:45 | {"gard": ["11899"], "mesh": ["C538421"], "umls": ["C2931845"], "orphanet": ["385"], "wikidata": ["Q16892735"]} |
A number sign (#) is used with this entry because of evidence that this form of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A13; MDDGA13) is caused by homozygous mutation in the B3GNT1 gene (605517), which encodes a type II transmembrane protein involved in glycosylation of tar... | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | c0265221 | 30,111 | omim | https://www.omim.org/entry/615287 | 2019-09-22T15:52:39 | {"doid": ["0111238"], "mesh": ["D058494"], "omim": ["615287"], "orphanet": ["899"], "synonyms": ["Alternative titles", "WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED"]} |
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
This article relies too much on references to primary sources. Please improve this by adding secondary or tertiary sources. (January 2012) (Learn how and when to r... | Epilepsy-intellectual disability in females | c1848137 | 30,112 | wikipedia | https://en.wikipedia.org/wiki/Epilepsy-intellectual_disability_in_females | 2021-01-18T18:28:36 | {"gard": ["10806"], "mesh": ["C564715"], "orphanet": ["101039"], "wikidata": ["Q3813663"]} |
## Description
Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intesti... | CELIAC DISEASE, SUSCEPTIBILITY TO, 13 | c2677601 | 30,113 | omim | https://www.omim.org/entry/612011 | 2019-09-22T16:02:33 | {"omim": ["612011"], "synonyms": ["Alternative titles", "GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 13"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to schizophrenia-16 is associated with duplication of a 362-kb region on chromosome 7q36.3 that includes the VIPR2 gene (601970) (chr7:158.4-158.8 Mb, NCBI36).
For a phenotypic description and discussion of genetic heterogeneity of sch... | SCHIZOPHRENIA 16 | c3151408 | 30,114 | omim | https://www.omim.org/entry/613959 | 2019-09-22T15:56:57 | {"omim": ["613959"], "synonyms": ["Alternative titles", "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 7q36.3-RELATED", "CHROMOSOME 7q36.3 DUPLICATION SYNDROME, 362-KB"]} |
6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.
## Epidemiology
Isolated terminal 6q deletion syndrome is very rare with less than 20 cases being reported in the literature.
## C... | 6q terminal deletion syndrome | c4304514 | 30,115 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75857 | 2021-01-23T19:06:39 | {"icd-10": ["Q93.5"]} |
A number sign (#) is used with this entry because early-onset ataxia with oculomotor apraxia and hypoalbuminemia (EAOH) is caused by homozygous or compound heterozygous mutation in the gene encoding aprataxin (APTX; 606350) on chromosome 9p21. Adult-onset ataxia with oculomotor apraxia is also caused by mutation in t... | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | c1859598 | 30,116 | omim | https://www.omim.org/entry/208920 | 2019-09-22T16:30:38 | {"doid": ["0050754"], "mesh": ["C538013"], "omim": ["208920"], "orphanet": ["1168"], "synonyms": ["Alternative titles", "ATAXIA-OCULOMOTOR APRAXIA SYNDROME", "ATAXIA-OCULOMOTOR APRAXIA 1", "ATAXIA-TELANGIECTASIA-LIKE SYNDROME", "CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA"], "genereviews": ["NBK1456"]} |
The examples and perspective in this article deal primarily with the United States and do not represent a worldwide view of the subject. You may improve this article, discuss the issue on the talk page, or create a new article, as appropriate. (September 2018) (Learn how and when to remove this template message)
... | Emotional and behavioral disorders | None | 30,117 | wikipedia | https://en.wikipedia.org/wiki/Emotional_and_behavioral_disorders | 2021-01-18T18:53:26 | {"icd-9": ["314", "312"], "icd-10": ["F90", "F91", "F95", "F93", "F98", "F92", "F94"], "wikidata": ["Q3063847"]} |
A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.
*[v]: View this te... | POMGNT1-related limb-girdle muscular dystrophy R15 | c3150417 | 30,118 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=206564 | 2021-01-23T17:53:23 | {"gard": ["12540"], "omim": ["613157"], "icd-10": ["G71.0"], "synonyms": ["Autosomal recessive limb-girdle muscular dystrophy type 2O", "LGMD type 2O", "LGMD2O", "Limb-girdle muscular dystrophy type 2O", "POMGNT1-related LGMD R15"]} |
Cormier-Daire et al. (2001) reported a female fetus with an apparently novel lethal skeletal dysplasia that clinically resembled achondrogenesis (see 200600), but with distinctive radiologic and chondroosseous morphologic features. These included bifid distal ends of the long bones of the limbs; absent vertebral body... | BABY RATTLE PELVIS DYSPLASIA | c1853911 | 30,119 | omim | https://www.omim.org/entry/605838 | 2019-09-22T16:10:52 | {"mesh": ["C565282"], "omim": ["605838"]} |
A number sign (#) is used with this entry because of evidence that one form of cerebral cavernous malformations (CCM1) is caused by heterozygous mutation in the KRIT1 gene (604214) on chromosome 7q21.
Description
Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the... | CEREBRAL CAVERNOUS MALFORMATIONS | c2931263 | 30,120 | omim | https://www.omim.org/entry/116860 | 2019-09-22T16:43:33 | {"doid": ["0080491"], "mesh": ["C536610"], "omim": ["116860"], "orphanet": ["221061"], "synonyms": ["Alternative titles", "CAVERNOUS ANGIOMA, FAMILIAL", "CAVERNOUS ANGIOMATOUS MALFORMATIONS", "CEREBRAL CAPILLARY MALFORMATIONS"], "genereviews": ["NBK1293"]} |
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: "Pancytopenia" – news · newspapers · books ... | Pancytopenia | c0030312 | 30,121 | wikipedia | https://en.wikipedia.org/wiki/Pancytopenia | 2021-01-18T18:52:27 | {"mesh": ["D010198"], "umls": ["C0030312"], "wikidata": ["Q1757427"]} |
Not to be confused with Pervasive developmental disorder.
Developmental disorder
SpecialtyPsychiatry
Developmental disorders comprise a group of psychiatric conditions originating in childhood that involve serious impairment in different areas. There are several ways of using this term.[1] The most narrow... | Developmental disorder | c0008073 | 30,122 | wikipedia | https://en.wikipedia.org/wiki/Developmental_disorder | 2021-01-18T18:29:24 | {"mesh": ["D002658"], "icd-9": ["315", "299"], "icd-10": ["F89", "F80", "F88"], "wikidata": ["Q3087172"]} |
Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some... | Apraxia | c0003635 | 30,123 | gard | https://rarediseases.info.nih.gov/diseases/5838/apraxia | 2021-01-18T18:02:03 | {"mesh": ["D001072"], "synonyms": ["Dyspraxia"]} |
X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least ... | X-linked spinocerebellar ataxia type 3 | c1844936 | 30,124 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85297 | 2021-01-23T17:25:02 | {"gard": ["9981"], "mesh": ["C537315"], "omim": ["301790"], "umls": ["C1844936"], "icd-10": ["G11.1"], "synonyms": ["SCAX3", "X-linked ataxia-deafness syndrome", "X-linked ataxia-hearing loss syndrome"]} |
For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see 104300.
Mapping
In a systematic survey of the human genome in patients with AD, Zubenko et al. (1998) identified D10S1423, located at 10p13, as a candidate susceptibility locus. The allelic associations in this sur... | ALZHEIMER DISEASE 7 | c0276496 | 30,125 | omim | https://www.omim.org/entry/606187 | 2019-09-22T16:10:35 | {"doid": ["0110039"], "mesh": ["D000544"], "omim": ["606187"], "orphanet": ["1020"], "synonyms": ["Alternative titles", "ALZHEIMER DISEASE, FAMILIAL, 7", "AD7"]} |
Testicular cancer
Other namesTestis tumor[1]
7.4 × 5.5-cm seminoma in a radical orchiectomy specimen.
SpecialtyOncology
SymptomsLump in the testicle, swelling or pain in the scrotum[2]
Usual onset20 to 34 years old males[3]
TypesGerm cell tumors (seminomas and nonseminomas), sex-cord stromal tumors, lymph... | Testicular cancer | c0153594 | 30,126 | wikipedia | https://en.wikipedia.org/wiki/Testicular_cancer | 2021-01-18T19:06:55 | {"gard": ["7746"], "mesh": ["D013736"], "umls": ["C1333010", "C0153594", "C0039590"], "wikidata": ["Q324464"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 (256700).
Mapping
To identify genetic risk factors for neuroblastoma, Wang et al. (2011) performed a genomewide association study on 2,251 patients and 6,097 control subjects of European ancestry from 4 c... | NEUROBLASTOMA, SUSCEPTIBILITY TO, 7 | c0027819 | 30,127 | omim | https://www.omim.org/entry/616792 | 2019-09-22T15:47:56 | {"mesh": ["D009447"], "omim": ["616792"], "orphanet": ["635"]} |
Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosi... | Biemond syndrome type 2 | c1859487 | 30,128 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141333 | 2021-01-23T18:53:42 | {"gard": ["882"], "mesh": ["C565902"], "omim": ["210350"], "umls": ["C1859487", "C2930903"], "synonyms": ["Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome"]} |
A number sign (#) is used with this entry because Li-Fraumeni syndrome-2 is caused by heterozygous mutation in the CHEK2 gene (604373) on chromosome 22q12.
For a general phenotypic description and a discussion of genetic heterogeneity of Li-Fraumeni syndrome (LFS), see LFS1 (151623).
Clinical Features
In affected ... | LI-FRAUMENI SYNDROME 2 | c0085390 | 30,129 | omim | https://www.omim.org/entry/609265 | 2019-09-22T16:06:20 | {"doid": ["3012"], "mesh": ["D016864"], "omim": ["609265"], "orphanet": ["524"]} |
Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.
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*[c.]: circa
*[AA]: Adrenergic ago... | Familial nonmedullary thyroid carcinoma | None | 30,130 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319494 | 2021-01-23T18:45:52 | {"icd-10": ["C73"]} |
A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, a... | Isolated corpus callosum agenesis | None | 30,131 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=200 | 2021-01-23T17:24:20 | {"icd-10": ["Q04.0"]} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Fear of mice and rats" – news · newspapers · books · scholar · JSTOR (March 2016) (Learn how and when to remove this te... | Fear of mice and rats | None | 30,132 | wikipedia | https://en.wikipedia.org/wiki/Fear_of_mice_and_rats | 2021-01-18T18:30:09 | {"wikidata": ["Q3440772"]} |
A number sign (#) is used with this entry because of evidence that multiple types of congenital heart defects (CHTD4) are caused by heterozygous mutation in the NR2F2 gene (107773) on chromosome 15q26.
For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955.
Molecular Gen... | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 | c1389018 | 30,133 | omim | https://www.omim.org/entry/615779 | 2019-09-22T15:50:59 | {"mesh": ["C562831"], "omim": ["615779"], "orphanet": ["98722"]} |
Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (the pigmented layer of the retina). Over time, drusen may grow and come together, creating a ho... | Doyne honeycomb retinal dystrophy | c1832174 | 30,134 | gard | https://rarediseases.info.nih.gov/diseases/1912/doyne-honeycomb-retinal-dystrophy | 2021-01-18T18:00:49 | {"mesh": ["C535602"], "omim": ["126600"], "synonyms": ["DHRD", "Doyne honeycomb degeneration of retina", "DHD"]} |
Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.
## Epidemiology
At least 50 cases have been reported since the first description in 1988.
## Clinical description
Main cl... | Toriello-Carey syndrome | c0796184 | 30,135 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3338 | 2021-01-23T17:32:05 | {"gard": ["5225"], "mesh": ["C563127"], "omim": ["217980"], "umls": ["C0796184"], "icd-10": ["Q87.8"], "synonyms": ["Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome"]} |
Tuberculous meningitis
Other namesTB meningitis, Tubercular meningitis
CT scan showing tuberculous meningitis
SpecialtyNeurology
SymptomsFever[1]
CausesHIV/AIDS, Alcoholism[2]
Diagnostic methodBlood culture, CT scan[2]
TreatmentAntibiotic therapy and corticosteroids[3]
Tuberculous meningitis is als... | Tuberculous meningitis | c0041318 | 30,136 | wikipedia | https://en.wikipedia.org/wiki/Tuberculous_meningitis | 2021-01-18T19:06:13 | {"gard": ["7828"], "mesh": ["D014390"], "umls": ["C0041318"], "icd-9": ["013.0", "013.00"], "icd-10": ["A17.0", "G01"], "wikidata": ["Q3854687"]} |
Hemihyperplasia–multiple lipomatosis syndrome
SpecialtyDermatology
Hemihyperplasia–multiple lipomatosis syndrome is a cutaneous condition characterized by multiple lipomas in association with asymmetric (but non-progressive and non-distorting) overgrowth, cutaneous capillary malformations, and thickened pl... | Hemihyperplasia–multiple lipomatosis syndrome | None | 30,137 | wikipedia | https://en.wikipedia.org/wiki/Hemihyperplasia%E2%80%93multiple_lipomatosis_syndrome | 2021-01-18T19:09:30 | {"orphanet": ["276280"], "synonyms": ["HHML"], "wikidata": ["Q5711647"]} |
A number sign (#) is used with this entry because of evidence that Meier-Gorlin syndrome-4 (MGORS4) is caused by homozygous or compound heterozygous mutation in the CDT1 gene (605525) on chromosome 16q24.
For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, see... | MEIER-GORLIN SYNDROME 4 | c1868684 | 30,138 | omim | https://www.omim.org/entry/613804 | 2019-09-22T15:57:28 | {"doid": ["0080515"], "mesh": ["C538012"], "omim": ["613804"], "orphanet": ["2554"]} |
Camel spongiform encephalopathy
Other namesCSE
SpecialtyNeurology
Camel spongiform encephalopathy (CSE), commonly known as mad camel disease, is similar to mad cow disease. It was discovered by the Algerian veterinarian Baaissa Babelhadj, Lecturer-researcher Semir Bechir Suheil GAOUAR (university of Tlemcen)... | Camel spongiform encephalopathy | None | 30,139 | wikipedia | https://en.wikipedia.org/wiki/Camel_spongiform_encephalopathy | 2021-01-18T19:09:27 | {"wikidata": ["Q54304132"]} |
## Clinical Features
Nivelon et al. (1992) described 2 sibs with an apparently 'new' chondrodysplasia-pseudohermaphroditism syndrome. Both had severe dwarfism, antenatal in origin, with general chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, hypoplastic iris, and coloboma of the optic d... | CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME | c1838654 | 30,140 | omim | https://www.omim.org/entry/600092 | 2019-09-22T16:16:43 | {"doid": ["0060644"], "mesh": ["C536123"], "omim": ["600092"], "orphanet": ["1422"]} |
A number sign (#) is used with this entry because of evidence that intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities (IDDSFTA) is caused by heterozygous mutation in the BCL11B gene (606558) on chromosome 14q32.
Heterozygous mutation in the BCL11B gene can also cause i... | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | None | 30,141 | omim | https://www.omim.org/entry/618092 | 2019-09-22T15:43:39 | {"omim": ["618092"]} |
Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.
... | Keratosis palmaris et plantaris-clinodactyly syndrome | c1835663 | 30,142 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86919 | 2021-01-23T18:34:24 | {"mesh": ["C563646"], "omim": ["148520"], "umls": ["C1835663"], "icd-10": ["Q82.8"], "synonyms": ["Palmoplantar keratoderma-clinodactyly syndrome"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to epidermodysplasia verruciformis-2 (EV2) is conferred by homozygous mutation in the TMC8 gene (605829) gene on chromosome 17q25.
Description
Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk o... | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2 | c0014522 | 30,143 | omim | https://www.omim.org/entry/618231 | 2019-09-22T15:43:00 | {"mesh": ["D004819"], "omim": ["618231"], "orphanet": ["302"]} |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this ter... | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | c1833662 | 30,144 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=52430 | 2021-01-23T18:25:39 | {"gard": ["10899"], "mesh": ["C563476"], "omim": ["167320", "615422", "615424"], "umls": ["C1833662"], "icd-10": ["G71.8"], "synonyms": ["IBMPFD", "Limb-girdle muscular dystrophy with Paget disease of bone", "Pagetoid amyotrophic lateral sclerosis", "Pagetoid neuroskeletal syndrome"]} |
Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive b... | Isolated pulmonary capillaritis | c3854530 | 30,145 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=264691 | 2021-01-23T17:19:10 | {"umls": ["C3854530"]} |
## Summary
### Clinical characteristics.
Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to pho... | Holt-Oram Syndrome | c0265264 | 30,146 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1111/ | 2021-01-18T21:19:33 | {"mesh": ["C535326"], "synonyms": ["Heart and Hand Syndrome"]} |
Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails.
## Epidemiology
Prevalence is unknown. Fewer than 20 cases have been described.
## Clinical descripti... | Localized junctional epidermolysis bullosa, non-Herlitz type | c0079301 | 30,147 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251393 | 2021-01-23T18:29:26 | {"gard": ["12923"], "mesh": ["D016109"], "omim": ["226650"], "icd-10": ["Q81.8"], "synonyms": ["JEB-nH loc"]} |
Poisoning by lead in the body, especially affects the brain
Lead poisoning
Other namesPlumbism, colica pictorum, saturnism, Devon colic, painter's colic
An X ray demonstrating the characteristic finding of lead poisoning in humans—dense metaphyseal lines.
SpecialtyToxicology
SymptomsIntellectual disability, ... | Lead poisoning | c0023176 | 30,148 | wikipedia | https://en.wikipedia.org/wiki/Lead_poisoning | 2021-01-18T18:31:14 | {"mesh": ["D007855"], "umls": ["C0023176"], "icd-9": ["984.9"], "icd-10": ["T56.0"], "orphanet": ["330015"], "wikidata": ["Q110315"]} |
## Summary
### Clinical characteristics.
Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and t... | Primary Familial Brain Calcification | c4324314 | 30,149 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1421/ | 2021-01-18T21:02:31 | {"synonyms": []} |
For a general phenotypic description and a discussion of genetic heterogeneity of preeclampsia, see PEE1 (189800).
Mapping
Hypothesizing that the genetic background of preeclampsia might show reduced heterogeneity in a founder population such as that of the Kainuu province in central eastern Finland, Laivuori et al... | PREECLAMPSIA/ECLAMPSIA 3 | c0032914 | 30,150 | omim | https://www.omim.org/entry/609403 | 2019-09-22T16:06:16 | {"doid": ["10591"], "mesh": ["D011225"], "omim": ["609403"], "orphanet": ["275555"]} |
For the genus of plant, see Distichia (plant).
Distichia
Distichiae of the upper and lower lid of a dog
SpecialtyOphthalmology
A distichia is an eyelash that arises from an abnormal part of the eyelid. This abnormality, attributed to a genetic mutation, is known to affect dogs and humans. Distichiae (the ab... | Distichia | None | 30,151 | wikipedia | https://en.wikipedia.org/wiki/Distichia | 2021-01-18T18:32:01 | {"icd-9": ["743.63"], "icd-10": ["Q10.3"], "orphanet": ["98600"], "wikidata": ["Q1229478"]} |
Geographic tongue
A patient with Geographic Tongue
SpecialtyDermatology
SymptomsBurning sensation (rare)
CausesUnknown
Diagnostic methodVisual examination
Differential diagnosisOral lichen planus, erythematous candidiasis, leukoplakia, glossitis, and chemical burns
PreventionNone
TreatmentReassura... | Geographic tongue | c0017677 | 30,152 | wikipedia | https://en.wikipedia.org/wiki/Geographic_tongue | 2021-01-18T18:41:47 | {"gard": ["6493"], "mesh": ["D005929"], "umls": ["C0017677"], "wikidata": ["Q1981315"]} |
FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder.
FG syndrome affects intelligence and behavior. Almost everyone with the condition has intellectual disability, which... | FG syndrome | c1845902 | 30,153 | medlineplus | https://medlineplus.gov/genetics/condition/fg-syndrome/ | 2021-01-27T08:25:18 | {"gard": ["2317"], "mesh": ["C537923"], "omim": ["300321", "300406", "300422", "300581", "305450"], "synonyms": []} |
Villonodular synovitis is a type of synovial swelling.
Types include:
* Pigmented villonodular synovitis
* Giant cell tumor of the tendon sheath
Though they have very different names, they have the same histology, and stain positive for CD68, HAM56, and vimentin.[1] They are sometimes discussed together.[2][3]... | Villonodular synovitis | c0158168 | 30,154 | wikipedia | https://en.wikipedia.org/wiki/Villonodular_synovitis | 2021-01-18T18:36:43 | {"umls": ["C0158168"], "wikidata": ["Q19001412"]} |
Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) hav... | Hereditary bullous dystrophy, macular type | c0795974 | 30,155 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1867 | 2021-01-23T18:02:41 | {"gard": ["1038"], "mesh": ["C563065"], "omim": ["302000"], "umls": ["C0795974"], "icd-10": ["Q81.8"]} |
Reinke's edema
Other namesReinke's oedema,[1] polypoid degeneration, polypoid corditis, edematous hyptertrophy
Reinke's edema
SpecialtyOtorhinolaryngology
Reinke's edema is the swelling of the vocal cords due to fluid (edema) collected within the Reinke's space.[2] First identified by the German anatomist ... | Reinke's edema | c0472519 | 30,156 | wikipedia | https://en.wikipedia.org/wiki/Reinke%27s_edema | 2021-01-18T18:39:45 | {"icd-9": ["478.6"], "icd-10": ["J38.4"], "wikidata": ["Q786896"]} |
A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture a... | Autosomal dominant primary microcephaly | c0220693 | 30,157 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2514 | 2021-01-23T17:04:25 | {"gard": ["3605"], "mesh": ["C537323"], "omim": ["156580", "616311"], "umls": ["C0220693"], "icd-10": ["Q02"]} |
Water mold disease
Crayfish plague
Mycelial filaments from Aphanomyces astaci on membranes of Pacifastacus leniusculus
Scientific classification
Clade: SAR
Phylum: Oomycota
Order: Saprolegniales
Family: Leptolegniaceae
Genus: Aphanomyces
Species:
A. astaci
Binomial name
Aphanomyces astac... | Crayfish plague | None | 30,158 | wikipedia | https://en.wikipedia.org/wiki/Crayfish_plague | 2021-01-18T19:09:35 | {"wikidata": ["Q602370"]} |
## Description
Chiari malformation type II (CM2), also known as the Arnold-Chiari malformation, consists of elongation and descent of the inferior cerebellar vermis, cerebellar hemispheres, pons, medulla, and fourth ventricle through the foramen magnum into the spinal canal. CM2 is uniquely associated with myel... | CHIARI MALFORMATION TYPE II | c0003803 | 30,159 | omim | https://www.omim.org/entry/207950 | 2019-09-22T16:30:51 | {"mesh": ["D001139"], "omim": ["207950"], "icd-10": ["Q07.0"], "orphanet": ["1136"], "synonyms": ["Alternative titles", "CM2", "ARNOLD-CHIARI MALFORMATION"]} |
Koilonychia
Other namesSpoon nails
Koilonychia
SpecialtyDermatology
Koilonychia, also known as spoon nails,[1]:782 is a nail disease that can be a sign of hypochromic anemia, especially iron-deficiency anemia.[2]:656[3] It refers to abnormally thin nails (usually of the hand) which have lost their convexit... | Koilonychia | c0221261 | 30,160 | wikipedia | https://en.wikipedia.org/wiki/Koilonychia | 2021-01-18T18:54:46 | {"umls": ["C0221261", "C3840868"], "icd-9": ["757.5", "703.8"], "icd-10": ["L60.3", "Q84.6"], "wikidata": ["Q968206"]} |
## Description
Macrostomia is a congenital defect resulting from persistent lateral facial clefts, caused by failure of the maxillary and mandibular portions of the first branchial arch to unite normally. Macrostomia is a rare anomaly, with an estimated incidence of 1 in 150,000 to 300,000 births and is most of... | MACROSTOMIA, ISOLATED | c0024433 | 30,161 | omim | https://www.omim.org/entry/613545 | 2019-09-22T15:58:20 | {"mesh": ["D008265"], "omim": ["613545"], "orphanet": ["141276"], "synonyms": ["Alternative titles", "LATERAL CLEFT, ISOLATED", "COMMISSURAL CLEFT, ISOLATED", "TRANSVERSE CLEFT, ISOLATED"]} |
Adenocarcinoma, NOS
Micrograph of an adenocarcinoma showing mucin containing vacuoles. Pap test.
SpecialtyOncology, pathology
Adenocarcinoma[1] (/ˌædɪnoʊkɑːrsɪˈnoʊmə/; plural adenocarcinomas or adenocarcinomata /ˌædɪnoʊkɑːrsɪˈnoʊmɪtə/) (AC) is a type of cancerous tumor that can occur in several parts of the ... | Adenocarcinoma | c0001418 | 30,162 | wikipedia | https://en.wikipedia.org/wiki/Adenocarcinoma | 2021-01-18T19:09:59 | {"mesh": ["D000230"], "umls": ["C0001418"], "wikidata": ["Q356033"]} |
Deoxyguanosine kinase deficiency is an inherited disorder that can cause liver disease and neurological problems. Researchers have described two forms of this disorder. The majority of affected individuals have the more severe form, which is called hepatocerebral because of the serious problems it causes in the l... | Deoxyguanosine kinase deficiency | c3151513 | 30,163 | medlineplus | https://medlineplus.gov/genetics/condition/deoxyguanosine-kinase-deficiency/ | 2021-01-27T08:25:12 | {"gard": ["3972"], "omim": ["251880"], "synonyms": []} |
A rare, highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumor is high... | Adenoid cystic carcinoma of the cervix uteri | c1332911 | 30,164 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=213823 | 2021-01-23T18:21:37 | {"icd-10": ["C53.0", "C53.1", "C53.8"], "synonyms": ["Cervical adenoid cystic carcinoma"]} |
A number sign (#) is used with this entry because of evidence that trichothiodystrophy-6 (TTD6) is caused by homozygous mutation in the GTF2E2 gene (189964) on chromosome 8p12.
For a discussion of genetic heterogeneity of trichothiodystrophy, see 601675.
Clinical Features
Kuschal et al. (2016) reported a 10-year-o... | TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE | c1955934 | 30,165 | omim | https://www.omim.org/entry/616943 | 2019-09-22T15:47:25 | {"mesh": ["D054463"], "omim": ["616943"], "orphanet": ["33364"]} |
## Summary
### Clinical characteristics.
BCL11A-related intellectual disability (BCL11A-ID) is characterized by developmental delay / intellectual disability of variable degree, neonatal hypotonia, microcephaly, distinctive but variable facial characteristics, behavior problems, and asymptomatic persistence of feta... | BCL11A-Related Intellectual Disability | c4310833 | 30,166 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK547048/ | 2021-01-18T21:40:29 | {"synonyms": ["Dias-Logan Syndrome", "Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin"]} |
This article is about the consequences of topical steroids. For other uses, see Burn and Sunburn.
Topical steroid withdrawal
Other namesTopical steroid addiction, steroid dermatitis, red burning skin syndrome, red skin syndrome, iatrogenic exfoliative dermatitis (idiopathic erythroderma)[1]
Red burning skin synd... | Topical steroid withdrawal | None | 30,167 | wikipedia | https://en.wikipedia.org/wiki/Topical_steroid_withdrawal | 2021-01-18T19:06:16 | {"wikidata": ["Q25323840"]} |
Lopes et al. (1994) described a Brazilian family in which members of 4 generations showed absence of the lower eyelashes associated with thin and short upper tarsus, normal upper eyelashes, and hypoplastic lower eyelids with short and small tarsus. There were a few short, thin, and light-colored lower eyelashes v... | SHORT TARSUS WITH ABSENCE OF LOWER EYELASHES | c1838328 | 30,168 | omim | https://www.omim.org/entry/600269 | 2019-09-22T16:16:29 | {"mesh": ["C537036"], "omim": ["600269"], "orphanet": ["2832"]} |
A number sign (#) is used with this entry because 3-methylglutaconic aciduria type I (MCGA1) can be caused by homozygous or compound heterozygous mutation in the AUH gene (600529), which encodes 3-methylglutaconyl-CoA hydratase, on chromosome 9q22.
Description
Type I MGCA is a rare autosomal recessive disorder of l... | 3-METHYLGLUTACONIC ACIDURIA, TYPE I | c0342727 | 30,169 | omim | https://www.omim.org/entry/250950 | 2019-09-22T16:25:14 | {"doid": ["0110002"], "mesh": ["C562801"], "omim": ["250950"], "orphanet": ["67046"], "synonyms": ["Alternative titles", "MGA, TYPE I", "3-METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY", "3-MG-CoA-HYDRATASE DEFICIENCY"]} |
A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.
## Epidemiology
Naxos was first described in families originating from the Greek island of Naxos. Moreover, affecte... | Naxos disease | c1832600 | 30,170 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=34217 | 2021-01-23T18:34:28 | {"gard": ["9795"], "mesh": ["C538346"], "omim": ["601214"], "umls": ["C1832600"], "icd-10": ["Q87.8"], "synonyms": ["KWWH type I", "Keratoderma with woolly hair type I", "Keratosis palmoplantaris with arrythmogenic cardiomyopathy", "Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy", "Palmoplantar keratoder... |
Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.
## Epidemiology
Around 50 case... | Weaver syndrome | c0265210 | 30,171 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3447 | 2021-01-23T18:56:32 | {"gard": ["7878"], "mesh": ["C536687"], "omim": ["277590"], "umls": ["C0265210"], "icd-10": ["Q87.3"], "synonyms": ["Camptodactyly-overgrowth-unusual facies syndrome"]} |
Oncogenic osteomalacia
Other namesTumor-induced osteomalacia
Oncogenic osteomalacia also known as oncogenic hypophosphatemic osteomalacia, is an uncommon disorder resulting in increased renal phosphate excretion, hypophosphatemia and osteomalacia. It may be caused by a phosphaturic mesenchymal tumor.
## Conte... | Oncogenic osteomalacia | c1274103 | 30,172 | wikipedia | https://en.wikipedia.org/wiki/Oncogenic_osteomalacia | 2021-01-18T18:55:18 | {"gard": ["9652"], "mesh": ["C537751"], "umls": ["C1274103"], "orphanet": ["352540"], "wikidata": ["Q7852667"]} |
Plott (1964) described 3 brothers with permanent congenital laryngeal abductor paralysis and mental deficiency. A fourth male sib suspected of having been affected died perinatally. Dysgenesis of the nucleus ambiguus was considered likely. Watters and Fitch (1973) presented a pedigree which made X-linked recessiv... | LARYNGEAL ABDUCTOR PARALYSIS | c0396059 | 30,173 | omim | https://www.omim.org/entry/308850 | 2019-09-22T16:17:56 | {"mesh": ["C536354"], "omim": ["308850"], "orphanet": ["2375"], "synonyms": ["Alternative titles", "VOCAL CORD DYSFUNCTION, FAMILIAL", "PLOTT SYNDROME"]} |
## Clinical Features
Clunie and Mason (1962) described a seemingly distinct disorder in 3 brothers whose parents were first cousins. All had recurrent femoral and/or inguinal hernias and diverticula of the large and small bowel or urinary bladder. Two of the brothers had a marfanoid habitus. A sister had diverticul... | DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT | c1857227 | 30,174 | omim | https://www.omim.org/entry/223330 | 2019-09-22T16:28:40 | {"mesh": ["C565619"], "omim": ["223330"], "orphanet": ["2464"]} |
## Description
Torsade de pointes is characterized by an electrocardiographic (ECG) pattern of nonuniform but still-organized electrical activity with progressive changes in morphology, amplitude, and polarity of the QRS complexes, the peaks of which twist around the isoelectric baseline before ending spontaneously... | TORSADE DE POINTES, SHORT-COUPLED VARIANT | c3150851 | 30,175 | omim | https://www.omim.org/entry/613600 | 2019-09-22T15:58:13 | {"omim": ["613600"], "orphanet": ["51084"], "synonyms": []} |
Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficienc... | Combined immunodeficiency due to CRAC channel dysfunction | c2748568 | 30,176 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169090 | 2021-01-23T18:03:48 | {"mesh": ["C557826"], "omim": ["612782", "612783"], "icd-10": ["D81.8"], "synonyms": ["Immune dysfunction due to T-cell inactivation due to calcium entry defect"]} |
## Clinical Features
Shahidi (1967) described a 17-year-old girl with severe methemoglobinemia and hemolysis following ingestion of acetophenetidin. The activity of G6PD, 6PGD, diaphorase, and glutathione reductase was normal, as was the concentration of reduced glutathione. Hemoglobin was physically normal. Previo... | ACETOPHENETIDIN SENSITIVITY | c1860214 | 30,177 | omim | https://www.omim.org/entry/200300 | 2019-09-22T16:31:41 | {"omim": ["200300"]} |
A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.
*[v]: View this template
*[t]: D... | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | c4014261 | 30,178 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=412057 | 2021-01-23T17:28:04 | {"omim": ["615768"], "icd-10": ["G11.1"], "synonyms": ["SCAR16", "Spinocerebellar ataxia autosomal recessive type 16"]} |
A locus associated with susceptibility to basal cell carcinoma has been identified on chromosome 1p36 (BCC1).
Description
Cutaneous basal cell carcinoma (BCC) is the most common cancer among people of European ancestry (Stacey et al., 2009). The primary environmental risk factor for BCC is sun exposure, but genetic... | BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 | c2751544 | 30,179 | omim | https://www.omim.org/entry/605462 | 2019-09-22T16:11:24 | {"omim": ["605462"]} |
Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed... | Metaphyseal chondrodysplasia, Jansen type | c0265295 | 30,180 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=33067 | 2021-01-23T17:36:16 | {"gard": ["79"], "mesh": ["C537564"], "omim": ["156400"], "umls": ["C0265295"], "icd-10": ["Q78.5"]} |
A number sign (#) is used with this entry because Charcot-Marie-Tooth disease type 1A is caused by duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22; 601097).
Deletion of the PMP22 gene characteristically results in hereditary neuropathy with liability to pressure palsies (HNPP; 1... | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A | c0270911 | 30,181 | omim | https://www.omim.org/entry/118220 | 2019-09-22T16:43:24 | {"doid": ["0110148"], "mesh": ["D002607"], "omim": ["118220"], "orphanet": ["101081"], "synonyms": ["Alternative titles", "HEREDITARY MOTOR AND SENSORY NEUROPATHY IA", "HMSN1A", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A", "CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A"]} |
Moloney leukemia virus, a retrovirus lacking a transforming (onc) gene, induces thymic lymphomas in rats and mice. In rat and mouse thymomas, proviral integration occurs nonrandomly in at least 9 DNA regions. Anagnou et al. (1989) cloned the human homolog of one of these integration sites, called MLVI2. As an initial... | MOLONEY LEUKEMIA VIRUS INTEGRATION SITE 2, MOUSE, HOMOLOG OF | c1417195 | 30,182 | omim | https://www.omim.org/entry/157960 | 2019-09-22T16:38:05 | {"omim": ["157960"]} |
A number sign (#) is used with this entry because of evidence that the Naegeli-Franceschetti-Jadassohn syndrome (NFJS) is caused by heterozygous mutation in the keratin-14 gene (KRT14; 148066) on chromosome 17q21.
A closely related disorder, dermatopathia pigmentosa reticularis (DPR; 125595), is also caused by heter... | NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME | c0343111 | 30,183 | omim | https://www.omim.org/entry/161000 | 2019-09-22T16:37:40 | {"mesh": ["C538331"], "omim": ["161000"], "orphanet": ["69087"], "synonyms": ["Alternative titles", "NAEGELI SYNDROME", "NFJ SYNDROME"]} |
A number sign (#) is used with this entry because of evidence that familial hypertrophic cardiomyopathy-9 (CMH9) is caused by heterozygous mutation in the TTN gene (188840) on chromosome 2q31.
For a phenotypic description and a discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy (CMH), see CM... | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 | c1861065 | 30,184 | omim | https://www.omim.org/entry/613765 | 2019-09-22T15:57:34 | {"mesh": ["C566044"], "omim": ["613765"]} |
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain.
The first symptom of IBMPFD is often muscle weakness (myopathy), which typically appears in mid-adulthood. Weakness first occurs in muscles of the hips and shoulde... | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia | c4551951 | 30,185 | medlineplus | https://medlineplus.gov/genetics/condition/inclusion-body-myopathy-with-early-onset-paget-disease-and-frontotemporal-dementia/ | 2021-01-27T08:25:31 | {"gard": ["10899"], "omim": ["167320"], "synonyms": []} |
Epilepsy syndrome that is characterised by generalised seizures with no apparent cause
Generalized epilepsy
Other namesPrimary generalized epilepsy, idiopathic epilepsy
Generalized 3 Hz spike-and-wave discharges on an electroencephalogram
SpecialtyNeurology
Generalized epilepsy is a form of epilepsy chara... | Generalized epilepsy | c0014548 | 30,186 | wikipedia | https://en.wikipedia.org/wiki/Generalized_epilepsy | 2021-01-18T18:55:50 | {"mesh": ["D004829"], "umls": ["C0014548"], "icd-9": ["345.1", "345.0"], "icd-10": ["G40.4"], "wikidata": ["Q5532415"]} |
Darier's disease
Other namesDarier disease, Darier–White disease,[1] Dyskeratosis follicularis,[1] and Keratosis follicularis[2]:523[3]:567
Linear Darier's disease
SpecialtyMedical genetics
Darier's disease (DAR) is an autosomal dominant disorder discovered by French dermatologist Ferdinand-Jean Darier... | Darier's disease | c0022595 | 30,187 | wikipedia | https://en.wikipedia.org/wiki/Darier%27s_disease | 2021-01-18T18:35:43 | {"gard": ["6243"], "mesh": ["D007644"], "umls": ["C0022595"], "icd-9": ["757.39"], "orphanet": ["218"], "wikidata": ["Q580506"]} |
A rare syndromic disorder with strabismus characterized by congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical ... | Congenital fibrosis of extraocular muscles | c1302995 | 30,188 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=45358 | 2021-01-23T18:32:05 | {"gard": ["12590"], "mesh": ["C580012"], "omim": ["135700", "600638", "602078", "609384", "609428", "609612"], "umls": ["C1302995"], "icd-10": ["H49.8"], "synonyms": ["FEOM"]} |
For a general phenotypic description and a discussion of loci that may affect fetal hemoglobin levels, see HBFQTL1 (141749).
Mapping
In the same large Indian kindred in which Thein et al. (1994) and Craig et al. (1996) mapped a gene modifying hemoglobin F and F-cell (FC) production to chromosome 6q23 (see 142470), ... | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 4 | c1969842 | 30,189 | omim | https://www.omim.org/entry/606789 | 2019-09-22T16:10:02 | {"omim": ["606789"]} |
HIV/AIDS in Japan has been recognized as a serious health issue in recent years.[1] However, overall awareness amongst the general population of Japan regarding sexually transmitted infections, including HIV/AIDS, remains low.[2]
Human Immunodeficiency Virus (HIV) first came to attention in the 1980s in the United S... | HIV/AIDS in Japan | None | 30,190 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Japan | 2021-01-18T18:28:41 | {"wikidata": ["Q5629855"]} |
Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with dislocations of the hips, knees, or elbows. Foot abnormalities, such as inward- and upward-turning ... | Larsen syndrome | c0175778 | 30,191 | medlineplus | https://medlineplus.gov/genetics/condition/larsen-syndrome/ | 2021-01-27T08:25:08 | {"gard": ["6860"], "mesh": ["C580241"], "omim": ["150250", "245600"], "synonyms": []} |
Osteomalacia is a disease that is characterized by a weakening of the bone, often due to a deficiency of vitamin D. This vitamin supports the development of the bones of the body, so when there are low levels of vitamin D, the bones are not strong enough. Symptoms of osteomalacia can include muscle weakness, bone pai... | Osteomalacia | c0029442 | 30,192 | gard | https://rarediseases.info.nih.gov/diseases/7285/osteomalacia | 2021-01-18T17:58:32 | {"umls": ["C0029442"], "synonyms": []} |
"Alcoholic" redirects here. For alcoholic beverages, see alcoholic drink. For the song by Starsailor, see Alcoholic (song).
Problematic alcohol consumption
Alcoholism
Other namesAlcohol addiction, alcohol dependence syndrome, alcohol use disorder (AUD)[1]
"King Alcohol and His Prime Minister" c. 1820
Specialt... | Alcoholism | c0001973 | 30,193 | wikipedia | https://en.wikipedia.org/wiki/Alcoholism | 2021-01-18T18:54:50 | {"mesh": ["D000437"], "icd-9": ["303"], "icd-10": ["F10"], "wikidata": ["Q15326"]} |
A number sign (#) is used with this entry because of evidence that Joubert syndrome-23 (JBTS23) is caused by homozygous or compound heterozygous mutation in the KIAA0586 gene (610178) on chromosome 14q23.
Description
Joubert syndrome-23 is an autosomal recessive neurodevelopmental disorder characterized by dela... | JOUBERT SYNDROME 23 | c4551568 | 30,194 | omim | https://www.omim.org/entry/616490 | 2019-09-22T15:48:41 | {"doid": ["0110992"], "mesh": ["C536293"], "omim": ["213300", "616490"], "orphanet": ["475"], "synonyms": ["CPD IV", "Cerebelloparenchymal disorder IV", "Classic Joubert syndrome", "Joubert syndrome type A", "Joubert-Boltshauser syndrome", "Pure Joubert syndrome"], "genereviews": ["NBK1325"]} |
Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.
## Epidemiology
Prevalence of this form is not known. The condition is found in many eth... | Delta-beta-thalassemia | c0271985 | 30,195 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231237 | 2021-01-23T18:51:48 | {"mesh": ["C562716"], "omim": ["141749"], "umls": ["C0271985"], "icd-10": ["D56.2"]} |
Curling's ulcer
Other namesCurling ulcer
SpecialtyGeneral surgery, Gastroenterology
Curling's ulcer is an acute gastric erosion resulting as a complication from severe burns when reduced plasma volume leads to ischemia and cell necrosis (sloughing) of the gastric mucosa. The condition was first described in ... | Curling's ulcer | c0010474 | 30,196 | wikipedia | https://en.wikipedia.org/wiki/Curling%27s_ulcer | 2021-01-18T19:06:30 | {"mesh": ["D004381"], "umls": ["C0010474"], "wikidata": ["Q5194855"]} |
A number sign (#) is used with this entry because of evidence that isolated question mark ears (QME) are caused by heterozygous mutation in the EDN1 gene (131240) on chromosome 6p24. Homozygous mutation in EDN1 causes auriculocondylar syndrome-3 (ARCND3; 615706).
Description
Question mark ear is an auricular ab... | QUESTION MARK EARS, ISOLATED | c1865295 | 30,197 | omim | https://www.omim.org/entry/612798 | 2019-09-22T16:00:39 | {"mesh": ["C538270"], "omim": ["612798"], "orphanet": ["137888"], "synonyms": ["Alternative titles", "EARS, PROMINENT AND CONSTRICTED", "COSMAN DEFORMITY OF THE AURICLE", "AURICULAR CLEFT, CONGENITAL"]} |
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. (February 2017)
Morning pseudoneutropenia is a transient reduction in the measured neutrophil count from peripheral samples. This is noticed in some patie... | Morning pseudoneutropenia | None | 30,198 | wikipedia | https://en.wikipedia.org/wiki/Morning_pseudoneutropenia | 2021-01-18T18:55:02 | {"wikidata": ["Q6912932"]} |
A number sign (#) is used with this entry because some cases of hypereosinophilic syndrome are caused by fusion between the FIP1-like-1 (FIP1L1; 607686) and platelet-derived growth factor receptor-alpha (PDGFRA; 173490) genes.
Clinical Features
The hypereosinophilic syndrome is a rare hematologic disorder with sust... | HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC | c0206141 | 30,199 | omim | https://www.omim.org/entry/607685 | 2019-09-22T16:08:47 | {"mesh": ["D017681"], "omim": ["607685"], "orphanet": ["3260"]} |
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