Usher syndrome, type iid

Preferred Label : Usher syndrome, type iid;

Symbol : USH2D;

CISMeF acronym : USH2D;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the whirlin gene (WHRN, 607928.0002);

Prefixed ID : #611383;

Details

Origin ID

611383;

UMLS CUI

C1568249;

Automatic exact mappings (from CISMeF team)
- Usher syndrome type 2 [ORDO Disease]
- usher syndromes [MeSH Descriptor]
- whirlin [ORDO Gene]
- whirlin [HGNC gene]
Broader ORDO disease(s)
- Usher syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Usher syndrome type 2D [DO Concept]
- Usher syndrome type IId [Disease (Nov.)]
DO Cross reference
- Usher syndrome type 2D [DO Concept]
Genes related to phenotype
- Whirlin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Hearing impairment [HPO term]
- Rod-cone dystrophy [HPO term]
Not associated HPO term(s)
- Vestibular dysfunction [HPO term]
ORDO concept(s)
- Usher syndrome [ORDO Disease]
- Usher syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Usher syndrome type 2D [DO Concept]
- Usher syndrome type II [Disease (Nov.)]
- Usher syndrome type IId [Disease (Nov.)]
- usher syndrome, type II [MeSH concept]

Keyword's position in hierarchy(ies) :

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