| Disease ID | Source | Name | Description |
| 274000 | OMIM | Thrombocytopenia-absent radius syndrome (TAR) | An autosomal recessive disorder characterized by bilateral absence of the radii with the presence of both thumbs, thrombocytopenia, low numbers of megakaryocytes, and bleeding episodes in the first year of life. Thrombocytopenic episodes decrease with age. Skeletal anomalies range from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee. The disease is caused by variants affecting the gene represented in this entry. |