Albinism, ocular, with sensorineural deafness

Preferred Label : Albinism, ocular, with sensorineural deafness;

Obsolete resource : true;

Moved to : 193510; 606952;

CISMeF acronym : WS2-OA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive; WS2-OA;

Inheritance : Autosomal dominant form; Also x-linked;

Prefixed ID : 103470;

Details

Origin ID

103470;

UMLS CUI

C1863198;

Automatic exact mappings (from CISMeF team)
- Ocular albinism with congenital sensorineural deafness [ORDO Disease]
Currated CISMeF NLP mapping
- Albinism ocular late onset sensorineural deafness [MeSH concept]
- albinism ocular late onset sensorineural deafness [MeSH Supplementary Concept]
- ocular albinism with sensorineural deafness [DO Concept]
HPO term(s)
- Deafness [HPO term]
Narrower ORDO disease(s)
- Ocular albinism with late-onset sensorineural deafness [ORDO Disease]
ORDO concept(s)
- Ocular albinism with congenital sensorineural deafness [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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