loading...| Preferred Name |
Machado-Joseph disease |
|
| Synonyms |
Azorean disease spinocerebellar ataxia type 3 MJD SCA3 spinocerebellar ataxia 3 |
|
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_1440 |
|
| Obsolete |
true |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
Azorean disease spinocerebellar ataxia type 3 MJD SCA3 spinocerebellar ataxia 3 |
|
| database_cross_reference |
UMLS_CUI:C0024408 OMIM:109150 MESH:D017827 SNOMEDCT_US_2023_03_01:91952008 NCI:C84830 |
|
| 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. OMIM mapping confirmed by DO. [SN]. |
|
| equivalentClass | ||
| has close match |
MESH:D017827 |
|
| has exact match |
MESH:D017827 |
|
| has exact synonym |
Azorean disease spinocerebellar ataxia type 3 MJD SCA3 spinocerebellar ataxia 3 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:1440 |
|
| in_subset | ||
| label |
Machado-Joseph disease |
|
| notation |
DOID:1440 |
|
| note |
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. OMIM mapping confirmed by DO. [SN]. |
|
| owl:deprecated |
true |
|
| preferred label |
Machado-Joseph disease |
|
| prefLabel |
Machado-Joseph disease |
|
| subClassOf |