Ichthyosis, split hairs, and amino aciduria

Preferred Label : Ichthyosis, split hairs, and amino aciduria;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 242550;

Details

Origin ID

242550;

UMLS CUI

C1855786;

Currated CISMeF NLP mapping
- ichthyosis, split hairs, and amino aciduria [MeSH concept]
- ichthyosis, split hairs, and amino aciduria [MeSH Supplementary Concept]
HPO term(s)
- Abnormal hair morphology [HPO term]
- Aminoaciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital ichthyosiform erythroderma [HPO term]
- Congenital ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Intellectual disability [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ichthyosis, split hairs, and amino aciduria [MeSH Supplementary Concept]
- ichthyosis, split hairs, and amino aciduria [MeSH concept]

Keyword's position in hierarchy(ies) :

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