Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

NAXOS DISEASE

Synonyms

CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES

ID

http://purl.bioontology.org/ontology/OMIM/601214

altLabel

CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES

WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES

KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY

NXD

PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR

MAL DE NAXOS

cui

C1832600

Gene Locus

17q21

Gene Symbol

DP3

JUP

PDGB

ARVD12

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000701

http://purl.bioontology.org/ontology/OMIM/MTHU049511

http://purl.bioontology.org/ontology/OMIM/MTHU049505

http://purl.bioontology.org/ontology/OMIM/MTHU003000

http://purl.bioontology.org/ontology/OMIM/MTHU049503

http://purl.bioontology.org/ontology/OMIM/MTHU049501

http://purl.bioontology.org/ontology/OMIM/MTHU006088

http://purl.bioontology.org/ontology/OMIM/MTHU006086

http://purl.bioontology.org/ontology/OMIM/MTHU039345

http://purl.bioontology.org/ontology/OMIM/MTHU036408

http://purl.bioontology.org/ontology/OMIM/MTHU006084

http://purl.bioontology.org/ontology/OMIM/MTHU049507

http://purl.bioontology.org/ontology/OMIM/MTHU009472

http://purl.bioontology.org/ontology/OMIM/MTHU049504

http://purl.bioontology.org/ontology/OMIM/MTHU049502

http://purl.bioontology.org/ontology/OMIM/MTHU049500

http://purl.bioontology.org/ontology/OMIM/MTHU049509

http://purl.bioontology.org/ontology/OMIM/MTHU001049

http://purl.bioontology.org/ontology/OMIM/MTHU020181

http://purl.bioontology.org/ontology/OMIM/MTHU049510

http://purl.bioontology.org/ontology/OMIM/MTHU002945

http://purl.bioontology.org/ontology/OMIM/MTHU013195

http://purl.bioontology.org/ontology/OMIM/MTHU002943

http://purl.bioontology.org/ontology/OMIM/MTHU006085

http://purl.bioontology.org/ontology/OMIM/MTHU006083

http://purl.bioontology.org/ontology/OMIM/MTHU036393

http://purl.bioontology.org/ontology/OMIM/MTHU006087

http://purl.bioontology.org/ontology/OMIM/MTHU036696

http://purl.bioontology.org/ontology/OMIM/MTHU029161

http://purl.bioontology.org/ontology/OMIM/MTHU019739

http://purl.bioontology.org/ontology/OMIM/MTHU001652

http://purl.bioontology.org/ontology/OMIM/MTHU049508

http://purl.bioontology.org/ontology/OMIM/MTHU049506

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

278205

notation

601214

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

NAXOS DISEASE

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C538346 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C538346 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0080551 Human Disease Ontology 123 LOOM