Ichthyosis with hypotrichosis, autosomal recessive

Preferred Label : Ichthyosis with hypotrichosis, autosomal recessive;

Obsolete resource : true;

Moved to : 602400;

Alternative titles and symbols : Arih;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the suppression of tumorigenicity 14 gene (st14,606797.0001);

Prefixed ID : 610765;

Details

Origin ID

610765;

UMLS CUI

C1835851;

Currated CISMeF NLP mapping
- Ichthyosis with hypotrichosis, autosomal recessive [MeSH concept]
- Ichthyosis – hypotrichosis syndrome [ICD-11 More detail]
- Ichthyosis-hypotrichosis syndrome [ORDO Disease]
- ichthyosis with hypotrichosis, autosomal recessive [MeSH Supplementary Concept]
HPO term(s)
- Congenital ichthyosis [HPO term]
- Corneal opacity [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Ichthyosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis with hypotrichosis, autosomal recessive [MeSH concept]
- Ichthyosis-hypotrichosis syndrome [ORDO Disease]
- ichthyosis with hypotrichosis, autosomal recessive [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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