Deafness, autosomal recessive 102

Preferred Label : Deafness, autosomal recessive 102;

Symbol : DFNB102;

CISMeF acronym : DFNB102;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the epidermal growth factor receptor pathway substrate 8 gene (EPS8, 600206.0001);

Prefixed ID : #615974;

Details

Origin ID

615974;

UMLS CUI

C3892050;

CISMeF manual mappings
- autosomal recessive nonsyndromic deafness 102 [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 102 [DO Concept]
Genes related to phenotype
- Epidermal growth factor receptor pathway substrate 8 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Profound hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
See also inter- (CISMeF)
- EPS8 wt Allele [NCIt concept]
- chloride intracellular channel 5 [ORDO Gene]
- chloride intracellular channel 5 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal recessive nonsyndromic deafness 102 [DO Concept]

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