Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

WAARDENBURG SYNDROME, TYPE 2D

Synonyms

WAARDENBURG SYNDROME, TYPE IID

ID

http://purl.bioontology.org/ontology/OMIM/608890

altLabel

WAARDENBURG SYNDROME, TYPE IID

WS2D

cui

C1837203

Gene Locus

8q11

Gene Symbol

SLUG

SNAI2

WS2D

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU029806

http://purl.bioontology.org/ontology/OMIM/MTHU001096

http://purl.bioontology.org/ontology/OMIM/MTHU015005

http://purl.bioontology.org/ontology/OMIM/MTHU001256

http://purl.bioontology.org/ontology/OMIM/MTHU014996

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

608890

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

WAARDENBURG SYNDROME, TYPE 2D

tui

T047

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http://purl.bioontology.org/ontology/MESH/C563839 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C563839 Medical Subject Headings LOOM