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;
Origin ID : 600193;
UMLS CUI : C1838447;
Currated CISMeF NLP mapping
DO Cross reference
HPO term(s)
Not associated HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)