Ermine phenotype

Preferred Label : Ermine phenotype;

CISMeF acronym : BADS;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Pigmentary disorder with hearing loss;

Included titles and symbols : Black locks with albinism and deafness syndrome; BADS;

Inheritance : Autosomal recessive;

Prefixed ID : 227010;

Details

Origin ID

227010;

UMLS CUI

C1856899;

Automatic exact mappings (from CISMeF team)
- BADS [LOINC method]
- BADS syndrome [MeSH Supplementary Concept]
- Ermine phenotype [ICD-11 More detail]
- benzoylamido-4'-aminostilbene-2,2'-disulfonate [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Ermine phenotype [MeSH concept]
- Ermine phenotype [ORDO Disease]
- ermine phenotype [MeSH Supplementary Concept]
HPO term(s)
- Albinism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Intellectual disability, mild [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spotty hyperpigmentation [HPO term]
- Vitiligo [HPO term]
- White eyebrow [HPO term]
- White eyebrows and eyelashes [HPO term]
- White eyelashes [HPO term]
- White hair [HPO term]
Not associated HPO term(s)
- Abnormal iris pigmentation [HPO term]
ORDO concept(s)
- Ermine phenotype [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ermine phenotype [ORDO Disease]
- Ermine phenotype [MeSH concept]
- ermine phenotype [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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