Hypotrichosis 12

Preferred Label : Hypotrichosis 12;

Symbol : HYPT12;

CISMeF acronym : HYPT12;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ribosomal protein L21 gene (RPL12, 603636.0001);

Prefixed ID : #615885;

Détails

Origin ID

615885;

UMLS CUI

C4014563;

Automatic exact mappings (from CISMeF team)
- hypotrichosis 12 [DO Concept]
DO Cross reference
- hypotrichosis 12 [DO Concept]
Genes related to phenotype
- Ribosomal protein l21 [OMIM gene]
HPO term(s)
- Aplasia/Hypoplasia of the eyebrow [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dry hair [HPO term]
- Hypotrichosis [HPO term]
- Slow-growing hair [HPO term]
- Sparse hair [HPO term]
- Sparse or absent eyelashes [HPO term]
Not associated HPO term(s)
- Abnormal sweat gland morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Abnormality of the nail [HPO term]
- Abnormality of the skin [HPO term]
ORDO concept(s)
- Hypotrichosis simplex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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