loading...| Preferred Name |
thrombocytopenia-absent radius syndrome |
|
| Synonyms |
chromosome 1q21.1 deletion syndrome |
|
| Definitions |
OMIM mapping confirmed by DO. [LS]. 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_14699 |
|
| comment |
OMIM mapping confirmed by DO. [LS]. |
|
| database_cross_reference |
UMLS_CUI:C0175703 OMIM:274000 ICD10CM:Q87.2 SNOMEDCT_US_2020_03_01:85589009 MESH:C536940 NCI:C99038 ORDO:3320 |
|
| has exact synonym |
chromosome 1q21.1 deletion syndrome Thrombocytopenia with absent radii (TAR) syndrome Radial aplasia-thrombocytopenia syndrome |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:14699 |
|
| imported from | ||
| in_subset | ||
| label |
thrombocytopenia-absent radius syndrome |
|
| notation |
DOID:14699 |
|
| prefLabel |
thrombocytopenia-absent radius syndrome |
|
| textual 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/DOID_0050737 |
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