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spinocerebellar ataxia type 17

Go to external page http://purl.obolibrary.org/obo/MONDO_0011781

A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. [ Orphanet:98759 ]

Synonyms: OPCA V cerebelloparenchymal disorder II CPD2 spinocerebellar ataxia type 17 olivopontocerebellar atrophy 5 SCA 17 HDL4 SCA17 spinocerebellar ataxia 17 olivopontocerebellar atrophy type 5 OPCA with dementia and extrapyramidal signs Huntington disease-like 4

This is just here as a test because I lose it

Term information

database cross reference
Subsets

ordo_disorder, gard_rare, matrix_llm__is_cancer_other, mondo_top_grouping_member, matrix_llm__txgnn_other, harrisons_view_psychiatric_disorder, matrix_included, nord_rare, matrix_txgnn_grouping_member, rare, matrix_txgnn_grouping_psychiatric_disorder, orphanet_rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_txgnn_grouping_neurodegenerative_disease, matrix_llm__tag_existing_treatment_other, mondo_top_grouping_psychiatric_disorder, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease

abbreviation
OPCA V

abbreviation
SCA17 [ Orphanet:98759 MONDO:Lexical NCIT:C179861 https://omim.org/entry/607136 ]

abbreviation
CPD2 [ MONDO:Lexical ]

abbreviation
HDL4 [ Orphanet:98759 ]

exactMatch

http://purl.obolibrary.org/obo/DOID_0050967

http://purl.obolibrary.org/obo/NCIT_C179861

http://identifiers.org/mesh/C563505

http://identifiers.org/mesh/C564616

http://www.orpha.net/ORDO/Orphanet_98759

http://identifiers.org/snomedct/719249005

http://identifiers.org/medgen/337637

http://identifiers.org/mesh/C565866

http://linkedlifedata.com/resource/umls/id/C1846707

https://omim.org/entry/607136

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1173627424

has related synonym

olivopontocerebellar atrophy V

CPD, late-onset recessive type

id

MONDO:0011781

term tracker item

https://github.com/monarch-initiative/mondo/issues/4444

https://github.com/monarch-initiative/mondo/issues/3805