Albinism-deafness syndrome

Preferred Label : Albinism-deafness syndrome;

Symbol : ADFN;

CISMeF acronym : ADFN; ALDS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : ALDS;

Inheritance : X-linked;

Prefixed ID : %300700;

Details

Origin ID

300700;

UMLS CUI

C1845068;

Automatic exact mappings (from CISMeF team)
- Adrenoleukodystrophy (disorder) [SNOMED CT concept]
- Albinism-deafness syndrome [ICD-11 More detail]
- albinism-deafness syndrome [HGNC gene]
CISMeF manual mappings
- Albinism with deafness syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Albinism deafness syndrome [MeSH concept]
- Albinism-deafness syndrome [ORDO Disease]
- albinism deafness syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the eye [HPO term]
- Albinism [HPO term]
- Congenital sensorineural deafness [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Partial albinism [HPO term]
- Patchy hypo- and hyperpigmentation [HPO term]
- Piebaldism [HPO term]
- X-linked inheritance [HPO term]
Not associated HPO term(s)
- Ocular albinism [HPO term]
ORDO concept(s)
- Albinism-deafness syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albinism deafness syndrome [MeSH concept]
- Albinism with deafness syndrome (disorder) [SNOMED CT concept]
- Albinism-deafness syndrome [ORDO Disease]
- albinism deafness syndrome [MeSH Supplementary Concept]

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