loading...| Preferred Name |
Absent radii and thrombocytopenia |
|
| Synonyms |
Radial Aplasia-Amegakaryocytic Thrombocytopenia |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536940 |
|
| altLabel |
Radial Aplasia-Amegakaryocytic Thrombocytopenia TAR Syndrome Thrombocytopenia absent radius syndrome Radial Aplasia-Thrombocytopenia Syndrome Thrombocytopenia Absent Radii Chromosome 1q21.1 Deletion Syndrome, 200-Kb Thrombocytopenia-Absent Radius Syndrome |
|
| cui |
C0175703 |
|
| HM |
D038062 D011884 D013921 D000080984 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D000080984 http://purl.bioontology.org/ontology/MESH/D038062 |
|
| MDA |
20100625 |
|
| MeSH Frequency |
46 |
|
| MMR |
20190617 |
|
| notation |
C536940 |
|
| prefLabel |
Absent radii and thrombocytopenia |
|
| SC |
3 |
|
| Scope Statement |
A hereditary disorder characterized by thrombocytopenia and absence of the radius. However, in contrast to similar disorders like FANCONI ANEMIA, the thumb is preserved. Individuals have low numbers of MEGAKARYOCYTES and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects. This disorder is caused by a combination of null mutation of the RBM8A gene through deletion on one copy of chromosome 1q21.1 and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms (SNPs) in RBM8A on the other. OMIM: 274000 |
|
| TERMUI |
T740948 T845114 T800641 T740949 T842584 T842586 T842583 T800643 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 |