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biotin-responsive basal ganglia disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0011841

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:65284 (OMIM:607483)
  • Orphanet:199348 (MONDO:equivalentTo)
  • SCTID:723557004 (MONDO:equivalentTo)
  • MESH:C537658 (Orphanet:65284/e)
  • SCTID:703522009 (MONDO:equivalentTo)
  • ICD9:333.99 (MONDO:relatedTo)
  • DOID:0050659 (MONDO:equivalentTo)
  • OMIM:607483 (Orphanet:65284/ntbt)
  • GARD:0010237 (MONDO:equivalentTo)
  • UMLS:C1843807 (Orphanet:65284/e)
Subsets

ordo_disease

abbreviation
BBGD [ Orphanet : 65284 ]
abbreviation
BTBGD [ Orphanet : 65284 ]
abbreviation
THMD2 [ MONDO : Lexical https://omim.org/entry/607483 ]
exactMatch
  • http://www.orpha.net/ORDO/Orphanet_65284
  • http://identifiers.org/snomedct/723557004
  • http://identifiers.org/snomedct/703522009
  • https://omim.org/entry/607483
  • http://purl.obolibrary.org/obo/DOID_0050659
  • http://www.orpha.net/ORDO/Orphanet_199348
  • http://identifiers.org/mesh/C537658
  • http://linkedlifedata.com/resource/umls/id/C1843807
excluded subClassOf
  • http://purl.obolibrary.org/obo/MONDO_0015653
has exact synonym
  • thiamine-responsive encephalopathy
  • thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)
  • BTBGD
  • biotin-thiamine-responsive basal ganglia disease
  • BBGD
has related synonym
  • encephalopathy, thiamine-responsive
  • THMD2
  • thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)
  • basal ganglia disease, biotin-responsive
id
  • MONDO:0011841
term tracker item
  • https://github.com/monarch-initiative/mondo/issues/4521
  • https://github.com/monarch-initiative/mondo/issues/4205