Waardenburg syndrome, type 2b

Preferred Label : Waardenburg syndrome, type 2b;

Symbol : WS2B;

CISMeF acronym : WS2B;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Waardenburg syndrome, type iib;

Description : Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (Hughes et al., 1994). WS type 2B (WS2B) maps to chromosome 1p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).;

Inheritance : Autosomal dominant not linked to PAX3 or 2q35;

Prefixed ID : %600193;

Details

Origin ID

600193;

UMLS CUI

C1838447;

Currated CISMeF NLP mapping
- Waardenburg syndrome type 2B [DO Concept]
- Waardenburg syndrome type 2B [MeSH concept]
- waardenburg syndrome type 2B [MeSH Supplementary Concept]
DO Cross reference
- Waardenburg syndrome type 2B [DO Concept]
HPO term(s)
- Abnormality of the face [HPO term]
- Autosomal dominant inheritance [HPO term]
- Heterochromia iridis [HPO term]
- Premature graying of hair [HPO term]
- Sensorineural hearing impairment [HPO term]
- White forelock [HPO term]
Not associated HPO term(s)
- Abnormal facial shape [HPO term]
- Telecanthus [HPO term]
ORDO concept(s)
- Waardenburg syndrome [ORDO Disease]
- Waardenburg syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Waardenburg syndrome type 2B [MeSH concept]
- Waardenburg syndrome type 2B [DO Concept]
- waardenburg syndrome type 2B [MeSH Supplementary Concept]

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