Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	MACHADO-JOSEPH DISEASE
Synonyms	SPINOCEREBELLAR ATAXIA 3
ID	http://purl.bioontology.org/ontology/OMIM/109150
altLabel	SPINOCEREBELLAR ATAXIA 3 NIGROSPINODENTATAL DEGENERATION AZOREAN NEUROLOGIC DISEASE SPINOCEREBELLAR ATROPHY III MJD SCA3 SPINOPONTINE ATROPHY
cui	C0024408
Gene Locus	14q32.12
Gene Symbol	SCA3 MJD ATXN3
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000860 http://purl.bioontology.org/ontology/OMIM/MTHU000929 http://purl.bioontology.org/ontology/OMIM/MTHU012787 http://purl.bioontology.org/ontology/OMIM/MTHU002773 http://purl.bioontology.org/ontology/OMIM/MTHU003179 http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU010974 http://purl.bioontology.org/ontology/OMIM/MTHU019353 http://purl.bioontology.org/ontology/OMIM/MTHU019354 http://purl.bioontology.org/ontology/OMIM/MTHU015561 http://purl.bioontology.org/ontology/OMIM/MTHU015560 http://purl.bioontology.org/ontology/OMIM/MTHU036444 http://purl.bioontology.org/ontology/OMIM/MTHU019348 http://purl.bioontology.org/ontology/OMIM/MTHU019357 http://purl.bioontology.org/ontology/OMIM/MTHU006559 http://purl.bioontology.org/ontology/OMIM/MTHU000535 http://purl.bioontology.org/ontology/OMIM/MTHU019351 http://purl.bioontology.org/ontology/OMIM/MTHU000945 http://purl.bioontology.org/ontology/OMIM/MTHU015556 http://purl.bioontology.org/ontology/OMIM/MTHU000765 http://purl.bioontology.org/ontology/OMIM/MTHU000933 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU003334 http://purl.bioontology.org/ontology/OMIM/MTHU000870 http://purl.bioontology.org/ontology/OMIM/MTHU019359 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU036441 http://purl.bioontology.org/ontology/OMIM/MTHU019358 http://purl.bioontology.org/ontology/OMIM/MTHU000301 http://purl.bioontology.org/ontology/OMIM/MTHU000786 http://purl.bioontology.org/ontology/OMIM/MTHU000764 http://purl.bioontology.org/ontology/OMIM/MTHU005095 http://purl.bioontology.org/ontology/OMIM/MTHU019356 http://purl.bioontology.org/ontology/OMIM/MTHU000700 http://purl.bioontology.org/ontology/OMIM/MTHU003514 http://purl.bioontology.org/ontology/OMIM/MTHU019352 http://purl.bioontology.org/ontology/OMIM/MTHU019355 http://purl.bioontology.org/ontology/OMIM/MTHU015562 http://purl.bioontology.org/ontology/OMIM/MTHU002752 http://purl.bioontology.org/ontology/OMIM/MTHU000928
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	183085
notation	109150
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	MACHADO-JOSEPH DISEASE
Scope Statement	Caused by trinucleotide repeat expansion (CAG)n in the ataxin-3 gene (MJD, 607047.0001) [MOLECULAR BASIS] Onset in third to fourth decade [MISCELLANEOUS] Normal alleles contain up to 44 repeats [MISCELLANEOUS] Wide clinical variability [MISCELLANEOUS] Pathogenic alleles contain 52 to 86 repeats [MISCELLANEOUS] Genetic anticipation [MISCELLANEOUS] Incomplete penetrance with 45 to 51 repeats [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D017827	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/91952008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D017827	MSHFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/91952008	SCTSPA	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003643	NDFRT	CUI
http://purl.bioontology.org/ontology/RCD/X002P	RCD	CUI
http://purl.bioontology.org/ontology/SNMI/DA-20080	SNMI	CUI
http://purl.obolibrary.org/obo/MONDO_0007182	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007182	OBA	LOOM
http://purl.obolibrary.org/obo/DOID_1440	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0007182	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007182	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0007182	HSPO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007182	DOVES	LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12650	BIRNLEX	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.854.787.875.500	RH-MESH	LOOM
http://www.semanticweb.org/ontologies/2011/1/Ontology1296772722296.owl#Machado-Joseph_disease	PDON	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7642	OCHV	LOOM
http://purl.bioontology.org/ontology/MESH/D017827	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.780.875.500	RH-MESH	LOOM
http://purl.obolibrary.org/obo/DOID_1440	CLO	LOOM
http://purl.obolibrary.org/obo/DOID_1440	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_1440	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_1440	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_1440	FNS-H	LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12650	NIFDYS	LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12650	NIFSTD	LOOM
http://purl.bioontology.org/ontology/RCD/X002P	RCD	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Machado-Joseph_Disease	CSEO	LOOM
http://purl.obolibrary.org/obo/OMIT_0018105	OMIT	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0024408	OCHV	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.252.700.700.500	RH-MESH	LOOM
http://radlex.org/RID/RID5157	RADLEX	LOOM
http://www.gamuts.net/entity#Machado_Joseph_disease	GAMUTS	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.252.190.530.530	RH-MESH	LOOM
http://purl.jp/bio/4/id/200906007192783195	IOBC	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.350.090.500.530.530	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D017827	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.825.700.500	RH-MESH	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1440	NATPRO	LOOM