Usher syndrome, type ij

Preferred Label : Usher syndrome, type ij;

Symbol : USH1J;

CISMeF acronym : USH1J;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the calcium- and integrin-binding protein 2 gene (CIB2, 605564.0004);

Prefixed ID : #614869;

Details

Origin ID

614869;

UMLS CUI

C3553944;

Automatic exact mappings (from CISMeF team)
- Usher syndrome type 1 [ORDO Disease]
- Usher syndrome type 1J [DO Concept]
- symbol withdrawn USH1J [HGNC gene]
DO Cross reference
- Usher syndrome type 1J [DO Concept]
Genes related to phenotype
- Calcium- and integrin-binding protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Motor delay [HPO term]
- Rod-cone dystrophy [HPO term]
- Vestibular dysfunction [HPO term]
ORDO concept(s)
- Usher syndrome [ORDO Disease]
- Usher syndrome type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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