Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/277900
http://purl.bioontology.org/ontology/OMIM/277900
Preferred Name

WILSON DISEASE
Synonyms
WD
HEPATOLENTICULAR DEGENERATION
WND
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
WD
HEPATOLENTICULAR DEGENERATION
WND
prefLabel
WILSON DISEASE
Gene Symbol
ATP7B
WND
Scope Statement
Incidence worldwide of 1 in 30,000 to 50,000 [MISCELLANEOUS]
Incidence in United States of 1 in 55,000 [MISCELLANEOUS]
Caused by mutation in the ATPase, Cu++ transporting, beta polypeptide gene (ATP7B, 606882.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU006713
http://purl.bioontology.org/ontology/OMIM/MTHU008713
http://purl.bioontology.org/ontology/OMIM/MTHU006276
http://purl.bioontology.org/ontology/OMIM/MTHU003978
http://purl.bioontology.org/ontology/OMIM/MTHU008716
http://purl.bioontology.org/ontology/OMIM/MTHU008706
http://purl.bioontology.org/ontology/OMIM/MTHU008717
http://purl.bioontology.org/ontology/OMIM/MTHU007357
http://purl.bioontology.org/ontology/OMIM/MTHU008708
http://purl.bioontology.org/ontology/OMIM/MTHU038006
http://purl.bioontology.org/ontology/OMIM/MTHU000535
http://purl.bioontology.org/ontology/OMIM/MTHU000539
http://purl.bioontology.org/ontology/OMIM/MTHU004643
http://purl.bioontology.org/ontology/OMIM/MTHU036443
http://purl.bioontology.org/ontology/OMIM/MTHU000283
http://purl.bioontology.org/ontology/OMIM/MTHU001772
http://purl.bioontology.org/ontology/OMIM/MTHU008719
http://purl.bioontology.org/ontology/OMIM/MTHU067948
http://purl.bioontology.org/ontology/OMIM/MTHU008711
http://purl.bioontology.org/ontology/OMIM/MTHU002380
http://purl.bioontology.org/ontology/OMIM/MTHU000661
http://purl.bioontology.org/ontology/OMIM/MTHU036384
http://purl.bioontology.org/ontology/OMIM/MTHU037473
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU008654
http://purl.bioontology.org/ontology/OMIM/MTHU005831
http://purl.bioontology.org/ontology/OMIM/MTHU007266
http://purl.bioontology.org/ontology/OMIM/MTHU038007
http://purl.bioontology.org/ontology/OMIM/MTHU000013
http://purl.bioontology.org/ontology/OMIM/MTHU005834
http://purl.bioontology.org/ontology/OMIM/MTHU008710
http://purl.bioontology.org/ontology/OMIM/MTHU002596
http://purl.bioontology.org/ontology/OMIM/MTHU008712
http://purl.bioontology.org/ontology/OMIM/MTHU005547
http://purl.bioontology.org/ontology/OMIM/MTHU008946
http://purl.bioontology.org/ontology/OMIM/MTHU008718
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tui
T047
Gene Locus
13q14.3-q21.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
277900
Semantic type UMLS property
Has inheritance type
cui
C0019202
OMIM Entry Type
3
OMIM MimType Value
pound
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