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spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0018996

A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. [ Orphanet:64753 https://github.com/Orphanet/ORDO/issues/11 ]

Synonyms: AOA2 ataxia-oculomotor apraxia 2 ataxia with oculomotor apraxia type 2 spinocerebellar ataxia, autosomal recessive type 1 SCAN2 spinocerebellar ataxia, autosomal recessive 1 spinocerebellar ataxia with axonal neuropathy type 2 ataxia-ocular apraxia 2 SCAN 2 ataxia-oculomotor apraxia type 2

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0050755 (MONDO:equivalentTo)
  • MESH:C537308 (https://github.com/monarch-initiative/mondo/issues/2210)
  • NCIT:C165500 (MONDO:equivalentTo)
  • Orphanet:64753 (MONDO:equivalentTo)
  • SCTID:725408001 (MONDO:equivalentTo)
  • OMIM:606002 (Orphanet:64753/btnt)
  • UMLS:C1853761 (MONDO:equivalentTo)
  • GARD:12860 (MONDO:GARD)
  • MEDGEN:340052 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare

comment

See https://github.com/Orphanet/ORDO/issues/11

exactMatch

http://identifiers.org/snomedct/725408001

http://identifiers.org/mesh/C537308

http://www.orpha.net/ORDO/Orphanet_64753

http://purl.obolibrary.org/obo/DOID_0050755

http://purl.obolibrary.org/obo/NCIT_C165500

http://identifiers.org/medgen/340052

https://omim.org/entry/606002

http://linkedlifedata.com/resource/umls/id/C1853761

has related synonym

SCAR1

autosomal recessive spinocerebellar ataxia-1

id

MONDO:0018996