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autosomal dominant cerebellar ataxia type I

Go to external page http://purl.obolibrary.org/obo/MONDO_0019792

Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. [ Orphanet:94145 ]

Synonyms: cerebellar plus syndrome ADCA1 autosomal dominant cerebellar ataxia type 1 ADCAI

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:19252 (MONDO:GARD)
  • MEDGEN:1842696 (MONDO:equivalentTo)
  • UMLS:C5680259 (MONDO:equivalentTo)
  • Orphanet:94145 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, gard_rare, disease_grouping, 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, 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, ordo_group_of_disorders

abbreviation
ADCA1 [ Orphanet:94145 ]

abbreviation
ADCAI [ Orphanet:94145 ]

exactMatch

http://identifiers.org/medgen/1842696

http://linkedlifedata.com/resource/umls/id/C5680259

http://www.orpha.net/ORDO/Orphanet_94145

id

MONDO:0019792

Term relations