Usher syndrome, type id

Preferred Label : Usher syndrome, type id;

Symbol : USH1D;

CISMeF acronym : USH1D;

Type : Phenotype, molecular basis known;

Included titles and symbols : Usher syndrome, type id/f, cdh23/pcdh15, digenic; Ush1d/f, cdh23/pcdh15, digenic;

Inheritance : Autosomal recessive; Digenic recessive;

Molecular basis : Caused by mutation in the cadherin 23 gene (CDH23, 605516.0001);

Prefixed ID : #601067;

Details

Origin ID

601067;

UMLS CUI

C1832845;

Automatic exact mappings (from CISMeF team)
- CDH23 wt Allele [NCIt concept]
- Usher syndrome type 1 [ORDO Disease]
- Usher syndrome type 1D [DO Concept]
- Usher syndrome, type 1D [MeSH concept]
- symbol withdrawn USH1D [HGNC gene]
- usher syndrome, type 1D [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Usher syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Usher syndrome type Id [Disease (Nov.)]
- usher syndrome, type ID [MeSH concept]
- usher syndrome, type ID [MeSH Supplementary Concept]
DO Cross reference
- Usher syndrome type 1D [DO Concept]
Genes related to phenotype
- Cadherin 23 [OMIM gene]
- Protocadherin 15 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Hearing impairment [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]
UMLS correspondences (same concept)
- Usher syndrome type Id [Disease (Nov.)]
- usher syndrome, type ID [MeSH Supplementary Concept]
- usher syndrome, type ID [MeSH concept]

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