Usher syndrome, type iiib

Preferred Label : Usher syndrome, type iiib;

Symbol : USH3B;

CISMeF acronym : USH3B;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the histidyl-tRNA synthetase 1 gene (HARS1, 142810.0001);

Prefixed ID : #614504;

Details

Origin ID

614504;

UMLS CUI

C3281066;

Automatic exact mappings (from CISMeF team)
- HARS1 wt Allele [NCIt concept]
- Usher syndrome type 3 [ORDO Disease]
- Usher syndrome type 3B [DO Concept]
- symbol withdrawn USH3B [HGNC gene]
Currated CISMeF NLP mapping
- Usher syndrome type IIIb [Disease (Nov.)]
DO Cross reference
- Usher syndrome type 3B [DO Concept]
Genes related to phenotype
- Histidyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed gross motor development [HPO term]
- Hearing impairment [HPO term]
- Horizontal nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Photophobia [HPO term]
- Truncal ataxia [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Usher syndrome [ORDO Disease]
- Usher syndrome type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Usher syndrome type IIIb [Disease (Nov.)]

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