Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

WILSON DISEASE
Synonyms

WD

HEPATOLENTICULAR DEGENERATION

WND
ID

http://purl.bioontology.org/ontology/OMIM/277900
altLabel

WD

HEPATOLENTICULAR DEGENERATION

WND
cui

C0019202
Gene Locus

13q14.3-q21.1
Gene Symbol

ATP7B

WND
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
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

277900
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

WILSON DISEASE
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]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRFRE/10047988 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10047988 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10019819 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10019819 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/190823004 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D006527 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10019819 MEDDRA CUI
http://purl.bioontology.org/ontology/ICPC2P/T99046 ICPC2P CUI
http://purl.bioontology.org/ontology/SNOMEDCT/88518009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-32310 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D006527 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/88518009 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/E83.01 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019202 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001510 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/C3510 RCD CUI
http://purl.bioontology.org/ontology/CSP/1849-4349 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10047988 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/190823004 SNOMEDCT CUI
rgo:29243 GAMUTS LOOM
http://purl.obolibrary.org/obo/OMIM_277900 CCO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_134 HRDO LOOM
http://identifiers.org/omim/277900 REXO LOOM
http://identifiers.org/omim/277900 GEXO LOOM
http://identifiers.org/omim/277900 RETO LOOM
http://purl.obolibrary.org/obo/DOID_893 DOID LOOM
http://purl.obolibrary.org/obo/DOID_893 BAO LOOM
http://purl.obolibrary.org/obo/DOID_893 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_893 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_893 ODAE LOOM
http://purl.obolibrary.org/obo/DOID_893 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_893 FNS-H LOOM
http://nanbyodata.jp/ontology/NANDO_2200579 NANDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15130 DERMLEX LOOM
http://purl.obolibrary.org/obo/DERMO_0000546 DERMO LOOM
http://www.orpha.net/ORDO/Orphanet_905 ORDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010200 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0010200 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010200 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010200 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0010200 KTAO LOOM
http://nanbyodata.jp/ontology/NANDO_1200655 NANDO LOOM