loading...| Preferred Name |
thrombocytopenia-absent radius syndrome |
| Synonyms |
Thrombocytopenia with absent radii (TAR) syndrome |
| Definitions |
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. OMIM mapping confirmed by DO. [LS]. |
| ID |
http://purl.obolibrary.org/obo/DOID_14699 |
| comment |
OMIM mapping confirmed by DO. [LS]. |
| database_cross_reference |
ICD10CM:Q87.2 ORDO:3320 SNOMEDCT_US_2022_09_01:85589009 NCI:C99038 OMIM:274000 MESH:C536940 UMLS_CUI:C0175703 |
| 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. |
| disease has basis in | |
| has exact synonym |
Thrombocytopenia with absent radii (TAR) syndrome Radial aplasia-thrombocytopenia syndrome chromosome 1q21.1 deletion syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:14699 |
| in_subset | |
| label |
thrombocytopenia-absent radius syndrome |
| notation |
DOID:14699 |
| prefLabel |
thrombocytopenia-absent radius syndrome |
| subClassOf |
http://purl.obolibrary.org/obo/DOID_225 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/274000 | Online Mendelian Inheritance in Man | LOOM |