Usher syndrome, type 1m

Preferred Label : Usher syndrome, type 1m;

Symbol : USH1M;

CISMeF acronym : USH1M;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ESPIN gene (ESPN, 606351.0008);

Prefixed ID : #618632;

Details

Origin ID

618632;

UMLS CUI

C5231434;

Genes related to phenotype
- Espin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Drusen [HPO term]
- Left ventricular hypertrophy [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Prelingual sensorineural hearing impairment [HPO term]
- Vestibular dysfunction [HPO term]
ORDO concept(s)
- Usher syndrome type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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