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thrombocytopenia-absent radius syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0010121

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia. [ Orphanet:3320 ]

Synonyms: thrombocytopenia with absent radii (TAR) syndrome thrombocytopenia-absent radius syndrome radial aplasia-thrombocytopenia syndrome 1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome TAR syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:3320 (OMIM:274000)
  • MedDRA:10071719 (Orphanet:3320/e)
  • DOID:14699 (MONDO:equivalentTo)
  • SCTID:85589009 (MONDO:equivalentTo)
  • MESH:C536940 (MONDO:equivalentTo)
  • UMLS:C0175703 (Orphanet:3320/e)
  • NORD:1768 (MONDO:NORD)
  • GARD:5116 (Orphanet:3320)
  • OMIM:274000 (Orphanet:3320/e)
  • ICD9:759.89 (MONDO:relatedTo)
  • NCIT:C99038 (MONDO:equivalentTo)
  • DECIPHER:64 (MONDO:equivalentTo)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

closeMatch

http://identifiers.org/meddra/10071719

exactMatch

http://linkedlifedata.com/resource/umls/id/C0175703

https://omim.org/entry/274000

http://www.orpha.net/ORDO/Orphanet_3320

http://identifiers.org/mesh/C536940

http://purl.obolibrary.org/obo/DOID_14699

http://identifiers.org/snomedct/85589009

http://purl.obolibrary.org/obo/NCIT_C99038

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000761

has related synonym

chromosome 1Q21.1 deletion syndrome, 200-Kb

TAR

Tar syndrome

thrombocytopenia absent radii

thrombocytopenia absent radius syndrome

absent radii and thrombocytopenia

id

MONDO:0010121

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010121