Deafness, congenital, with total albinism

Preferred Label : Deafness, congenital, with total albinism;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive; ? two separate loci;

Prefixed ID : 220900;

Details

Origin ID

220900;

UMLS CUI

C1857343;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- deafness, congenital, with total albinism [MeSH concept]
- deafness, congenital, with total albinism [MeSH Supplementary Concept]
HPO term(s)
- Albinism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Congenital hearing loss [HPO term]
- Hearing impairment [HPO term]
- Hypogonadism [HPO term]
- Intellectual disability [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- deafness, congenital, with total albinism [MeSH Supplementary Concept]
- deafness, congenital, with total albinism [MeSH concept]

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