Waardenburg syndrome, type 2d

Preferred Label : Waardenburg syndrome, type 2d;

Obsolete resource : true;

Moved to : 193510;

Symbol : WS2D;

CISMeF acronym : WS2D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Waardenburg syndrome, type iid;

Description : Waardenburg syndrome type 2 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 (review by Read and Newton, 1997). WS type 2D is caused by mutation in the SNAI2 gene (602150). 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 recessive;

Molecular basis : Caused by mutation in the homolog of the drosophila snail 2 gene (SNAI2, 602150.0001);

Prefixed ID : 608890;

Details

Origin ID

608890;

UMLS CUI

C1837203;

Automatic exact mappings (from CISMeF team)
- SNAI2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Waardenburg syndrome type 2D [DO Concept]
- waardenburg syndrome, type 2D [MeSH concept]
- waardenburg syndrome, type 2D [MeSH Supplementary Concept]
DO Cross reference
- Waardenburg syndrome type 2D [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital sensorineural deafness [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Heterochromia iridis [HPO term]
- Heterogeneous [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 2D [DO Concept]
- waardenburg syndrome, type 2D [MeSH Supplementary Concept]
- waardenburg syndrome, type 2D [MeSH concept]

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