Preferred Label : Waardenburg syndrome, type 2c;
Symbol : WS2C;
CISMeF acronym : WS2C;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Waardenburg syndrome, type iic;
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 (Selicorni
et al., 2002). WS type 2C (WS2C) maps to chromosome 8p. 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).;
Prefixed ID : %606662;
Origin ID : 606662;
UMLS CUI : C1847722;
Currated CISMeF NLP mapping
- DO Cross reference
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
