Deafness, y-linked 2

Preferred Label : Deafness, y-linked 2;

Symbol : DFNY2;

CISMeF acronym : DFNY2;

Type : Phenotype, molecular basis known;

Inheritance : Y-linked;

Molecular basis : Caused by mutation in the Y-linked transducin-beta-like 1 gene (TBL1Y, 400033.0001);

Prefixed ID : #400047;

Details

Origin ID

400047;

UMLS CUI

C5193013;

Automatic exact mappings (from CISMeF team)
- TBL1Y wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Y-linked deafness 2 [DO Concept]
DO Cross reference
- Y-linked deafness 2 [DO Concept]
Genes related to phenotype
- Transducin-beta-like 1, y-linked [OMIM gene]
HPO term(s)
- Sensorineural hearing impairment [HPO term]
- Y-linked inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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