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- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 7
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Spermatogenic Failure 9
- Standard Disease Name
- spermatogenic failure 9
- MeSH Tree
- No data
- ICD-10
- Q80.3
Identifiers
- DO ID
- No data
- MeSH ID
- D017488
- OMIM ID
- MTHU049753|139350|148080|113800
- UMLS ID
- C0079153
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:An autosomal dominant inherited skin disorder caused by mutations in the KRT1 and KRT10 genes. It is manifested at birth and is characterized by generalized erythema, skin blisters and skin fragility.|MSH2017_2016_08_12:A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.|HPO2016_07_04:An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized, erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. [HPO:probinson]
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