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General Information
ZIRC
OBO ID: DOID:14699
Term Name: thrombocytopenia-absent radius syndrome Search Ontology:
Synonyms:
  • chromosome 1q21.1 deletion syndrome
  • Radial aplasia-thrombocytopenia syndrome
  • Thrombocytopenia with absent radii (TAR) syndrome
Definition:
References:
  • ICD10CM:Q87.2
  • MESH:C536940
  • MTHICD9_2006:287.33
  • NCI:C99038
  • OMIM:274000
  • SNOMEDCT_US_2018_03_01:85589009
  • UMLS_CUI:C0175703
Ontology: Human Disease   (DOID:14699)
OTHER thrombocytopenia-absent radius syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RBM8A Thrombocytopenia-absent radius syndrome 274000
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None