Deafness, X-linked 6

Preferred Label : Deafness, X-linked 6;

Symbol : DFNX6;

CISMeF acronym : DFNX6;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the collagen, type IV, alpha-6 gene (COL4A6, 303631.0002);

Prefixed ID : #300914;

Details

Origin ID

300914;

UMLS CUI

C3806737;

Currated CISMeF NLP mapping
- X-linked deafness 6 [DO Concept]
DO Cross reference
- X-linked deafness 6 [DO Concept]
Genes related to phenotype
- Collagen, type iv, alpha-6 [OMIM gene]
HPO term(s)
- Cochlear malformation [HPO term]
- Hearing impairment [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic sensorineural deafness type DFN [ORDO Disease]
See also inter- (CISMeF)
- COL4A6 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- X-linked nonsyndromic deafness [DO Concept]

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