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thrombocytopenia-absent radius syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:thrombocytopenia-absent radius syndrome
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Accession:EFO:MONDO:0010121 term browser browse the term
Definition:Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.
Synonyms:exact_synonym: 1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome;   DOID:14699;   NCIT:C99038;   Orphanet:3320;   http://identifiers.org/medgen/61235;   http://identifiers.org/mesh/C536940;   http://identifiers.org/snomedct/85589009;   http://linkedlifedata.com/resource/umls/id/C0175703;   https://omim.org/entry/274000;   radial aplasia-thrombocytopenia syndrome;   thrombocytopenia with absent radii (TAR) syndrome
 synonym: http://identifiers.org/meddra/10071719
 related_synonym: TAR;   Tar syndrome;   absent radii and thrombocytopenia;   chromosome 1Q21.1 deletion syndrome, 200-Kb;   thrombocytopenia absent radii
 alt_id: MONDO:0010121
 xref: DECIPHER:64;   DOID:14699;   GARD:5116;   ICD9:759.89;   MEDGEN:61235;   MESH:C536940;   MIM:274000;   MedDRA:10071719;   NANDO:2200661;   NCI:C99038;   NORD:1768;   ORDO:3320;   SCTID:85589009;   UMLS:C0175703

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  experimental factor 0
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            thrombocytopenia-absent radius syndrome 0
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                  non-syndromic limb reduction defect 0
                    thrombocytopenia-absent radius syndrome 0
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