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thrombocytopenia-absent radius syndrome
Summary
- Synonym
-
- Radial aplasia-thrombocytopenia syndrome
- Thrombocytopenia with absent radii (TAR) syndrome
- 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.
- Super Class
- autosomal recessive disease chromosomal deletion syndrome syndrome
External Links
- Disease Ontology
- DOID:14699
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13478 | Interleukin-18 receptor 1 | |
| Q7L5Y1 | Mitochondrial enolase superfamily member 1 |
