Hypotrichosis 11

Preferred Label : Hypotrichosis 11;

Symbol : HYPT11;

CISMeF acronym : HYPT11;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the small nuclear ribonucleoprotein polypeptide E gene (SNRPE, 128160.0001);

Prefixed ID : #615059;

Détails

Origin ID

615059;

UMLS CUI

C3554409;

Currated CISMeF NLP mapping
- hypotrichosis 11 [DO Concept]
DO Cross reference
- hypotrichosis 11 [DO Concept]
Genes related to phenotype
- Small nuclear ribonucleoprotein polypeptide e [OMIM gene]
HPO term(s)
- Absent axillary hair [HPO term]
- Alopecia universalis [HPO term]
- Aplasia/Hypoplasia of the eyebrow [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hypotrichosis [HPO term]
- Sparse hair [HPO term]
- Sparse or absent eyelashes [HPO term]
ORDO concept(s)
- Hypotrichosis simplex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypotrichosis 11 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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