Usher syndrome, type ie

Preferred Label : Usher syndrome, type ie;

Symbol : USH1E;

CISMeF acronym : USH1E;

Type : Phenotype or locus, molecular basis unknown;

Description : For a general description and a discussion of genetic heterogeneity of USH1, see 276900. Usher syndrome type I an autosomal recessive disorder characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa, and constant vestibular dysfunction (summary by Chaib et al., 1997).;

Inheritance : Autosomal recessive;

Prefixed ID : %602097;

Details

Origin ID

602097;

UMLS CUI

C1865865;

Automatic exact mappings (from CISMeF team)
- Usher syndrome 1E (autosomal recessive, severe) [HGNC gene]
- Usher syndrome 1E (autosomal recessive, severe) [ORDO Gene]
- Usher syndrome type 1 [ORDO Disease]
- Usher syndrome type 1E [DO Concept]
- Usher syndrome, type 1E [MeSH concept]
- usher syndrome, type 1E [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Usher syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Usher syndrome type Ie [Disease (Nov.)]
- usher syndrome, type IE [MeSH concept]
- usher syndrome, type IE [MeSH Supplementary Concept]
DO Cross reference
- Usher syndrome type 1E [DO Concept]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Rod-cone dystrophy [HPO term]
- Vestibular areflexia [HPO term]
- Vestibular areflexia, complete [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 Ie [Disease (Nov.)]
- usher syndrome, type IE [MeSH Supplementary Concept]
- usher syndrome, type IE [MeSH concept]

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