Human Disease Ontology

Last uploaded: March 2, 2018
Preferred Name

Machado-Joseph disease

Synonyms

Azorean disease

spinocerebellar ataxia 3

spinocerebellar ataxia type 3

MJD

Definitions

OMIM mapping confirmed by DO. [SN]. An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.

ID

http://purl.obolibrary.org/obo/DOID_1440

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

NCI:C84830

OMIM:109150

SNOMEDCT_US_2016_03_01:91952008

UMLS_CUI:C0024408

MESH:D017827

definition

An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.

has_exact_synonym

Azorean disease

spinocerebellar ataxia 3

spinocerebellar ataxia type 3

MJD

has_obo_namespace

disease_ontology

id

DOID:1440

in_subset

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim

label

Machado-Joseph disease

notation

DOID:1440

prefLabel

Machado-Joseph disease

treeView

http://purl.obolibrary.org/obo/DOID_1441

subClassOf

http://purl.obolibrary.org/obo/DOID_1441

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http://www.semanticweb.org/ontologies/2011/1/Ontology1296772722296.owl#Machado-Joseph_disease PDON LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.252.700.700.500 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1440 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.252.190.530.530 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.825.700.500 RH-MESH LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12650 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12650 NIFSTD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Machado-Joseph_Disease CSEO LOOM
http://purl.obolibrary.org/obo/DOID_1440 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1440 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_1440 MONDO SAME_URI
http://purl.obolibrary.org/obo/DOID_1440 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1440 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_1440 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1440 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_1440 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1440 NIFSTD SAME_URI
http://radlex.org/RID/RID5157 RADLEX 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://purl.obolibrary.org/obo/MONDO_0007182 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007182 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007182 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007182 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007182 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007182 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007182 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007182 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007182 EFO 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://phenomebrowser.net/ontologies/mesh/mesh.owl#D017827 RH-MESH LOOM
http://purl.jp/bio/4/id/200906007192783195 IOBC LOOM
http://purl.jp/bio/4/id/200906007192783195 IOBC LOOM
http://purl.jp/bio/4/id/200906007192783195 IOBC LOOM
http://purl.jp/bio/4/id/200906007192783195 IOBC LOOM
http://purl.bioontology.org/ontology/RCD/X002P RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.350.090.500.530.530 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/109150 OMIM LOOM