thrombocytopenia-absent radius syndrome

Summary

DOID:14699 - thrombocytopenia-absent radius syndrome

Disease Ontology 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.

Synonyms: Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome (disorder), Thrombocytopenia with absent radii (TAR) syndrome, chromosome 1q21.1 deletion syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: rbm8a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010121 - thrombocytopenia-absent radius syndrome

MONDO:0010121 - thrombocytopenia-absent radius syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), chromosomal deletion syndrome (is_a), syndrome (is_a)