Deafness, X-linked 1

Preferred Label : Deafness, X-linked 1;

Symbol : DFNX1;

CISMeF acronym : DFNX1; DFN2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DFN2; Deafness, X-linked 2, sensorineural congenital;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the phosphoribosylpyrophosphate synthetase-1 gene (PRPS1, 311850.0013);

Prefixed ID : #304500;

Details

Origin ID

304500;

UMLS CUI

C1844677;

Automatic exact mappings (from CISMeF team)
- X-linked non-syndromic sensorineural deafness type DFN [ORDO Disease]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- X-linked deafness 1 [DO Concept]
- deafness, X-Linked 1 [MeSH concept]
- deafness, X-Linked 1 [MeSH Supplementary Concept]
DO Cross reference
- X-linked deafness 1 [DO Concept]
Genes related to phenotype
- Phosphoribosylpyrophosphate synthetase I [OMIM gene]
HPO term(s)
- Congenital hearing loss [HPO term]
- Sensorineural 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)
- phosphoribosyl pyrophosphate synthetase 1 [ORDO Gene]
- phosphoribosyl pyrophosphate synthetase 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- deafness, X-Linked 1 [MeSH Supplementary Concept]
- deafness, X-Linked 1 [MeSH concept]
Validated automatic mappings to NTBT
- X-linked nonsyndromic deafness [DO Concept]

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