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[X] autosomal recessive cerebellar ataxia

Go to external page http://purl.obolibrary.org/obo/MONDO_0015244

Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. [ Orphanet:1172 ]

Synonyms: ARCA arca cerebellar ataxia, autosomal recessive

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0050950 (MONDO:equivalentTo)
  • Orphanet:1172 (MONDO:equivalentTo)
  • OMIMPS:213200 (MONDO:equivalentTo)
  • MEDGEN:1843058 (MONDO:equivalentTo)
  • UMLS:C5575375 (MONDO:equivalentTo)
  • GARD:18718 (MONDO:GARD)
Subsets

matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, matrix_llm__tag_qualy_lost_other, disease_grouping, matrix_llm__medical_specialization_other, mondo_top_grouping_member, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, nord_rare, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, ordo_group_of_disorders, harrisons_view_nervous_system_disorder

abbreviation
ARCA [ Orphanet:1172 ]

exactMatch

https://omim.org/phenotypicSeries/PS213200

http://purl.obolibrary.org/obo/DOID_0050950

http://www.orpha.net/ORDO/Orphanet_1172

http://identifiers.org/medgen/1843058

http://linkedlifedata.com/resource/umls/id/C5575375

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015368

http://purl.obolibrary.org/obo/MONDO_0100309

http://purl.obolibrary.org/obo/MONDO_0020138

id

MONDO:0015244

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml