JSON

autosomal recessive spinocerebellar ataxia 20

Go to external page http://purl.obolibrary.org/obo/MONDO_0014601

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: spinocerebellar ataxia, autosomal recessive type 20 intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome autosomal recessive spinocerebellar ataxia type 20 autosomal recessive cerebellar ataxia caused by mutation in SNX14 SNX14 autosomal recessive cerebellar ataxia SCAR20

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:397709 (OMIM:616354)
  • MEDGEN:1684324 (MONDO:equivalentTo)
  • DOID:0080066 (MONDO:equivalentTo)
  • UMLS:C5190595 (MONDO:equivalentTo)
  • GARD:17636 (MONDO:GARD)
  • OMIM:616354 (Orphanet:397709/e)
Subsets

ordo_disorder, gard_rare, matrix_llm__is_cancer_other, matrix_llm__txgnn_other, mondo_top_grouping_member, nord_rare, matrix_included, rare, orphanet_rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, ordo_malformation_syndrome, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis

abbreviation
SCAR20 [ https://omim.org/entry/616354 MONDO:Lexical Orphanet:397709 DOID:0080066 ]

exactMatch

http://purl.obolibrary.org/obo/DOID_0080066

http://www.orpha.net/ORDO/Orphanet_397709

http://linkedlifedata.com/resource/umls/id/C5190595

http://identifiers.org/medgen/1684324

https://omim.org/entry/616354

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has related synonym

intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

spinocerebellar ataxia, autosomal recessive 20

id

MONDO:0014601

term tracker item

https://github.com/monarch-initiative/mondo/issues/5588