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: A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other. (2)
References:
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 MODELS No data available
PHENOTYPE No data available

CITATIONS: None