Usher syndrome, type if

Preferred Label : Usher syndrome, type if;

Symbol : USH1F;

CISMeF acronym : USH1F;

Type : Phenotype, molecular basis known;

Description : Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy and sensorineural hearing loss. Phenotypic distinctions are based on auditory and vestibular differences. Persons with forms of Usher syndrome type I (276900) have congenital severe to profound hearing loss and vestibular dysfunction.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protocadherin 15 gene (PCDH15, 605514.0001);

Prefixed ID : #602083;

Details

Origin ID

602083;

UMLS CUI

C1865885;

Automatic exact mappings (from CISMeF team)
- Usher syndrome type 1 [ORDO Disease]
- Usher syndrome type 1F [DO Concept]
- Usher syndrome, type 1F [MeSH concept]
- symbol withdrawn USH1F [HGNC gene]
- usher syndrome, type 1F [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Usher syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Usher syndrome type If [Disease (Nov.)]
- usher syndrome, type IF [MeSH concept]
- usher syndrome, type IF [MeSH Supplementary Concept]
DO Cross reference
- Usher syndrome type 1F [DO Concept]
Genes related to phenotype
- Protocadherin 15 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Congenital onset [HPO term]
- Congenital sensorineural deafness [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Impaired tandem gait [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]
UMLS correspondences (same concept)
- Usher syndrome type If [Disease (Nov.)]
- usher syndrome, type IF [MeSH Supplementary Concept]
- usher syndrome, type IF [MeSH concept]

Keyword's position in hierarchy(ies) :

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