thrombocytopenia-absent radius syndrome
Information
- Disease name
- thrombocytopenia-absent radius syndrome
- Disease ID
- DOID:14699
- Description
- "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." [url:https\://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK23758/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Exact Synonym (Disease Ontology)
- Radial aplasia-thrombocytopenia syndrome
- Exact Synonym (Disease Ontology)
- Thrombocytopenia with absent radii (TAR) syndrome
- Disase is a (Disease Ontology)
- DOID:0060388
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q87.2
- Cross Reference ID (Disease Ontology)
- MESH:C536940
- Cross Reference ID (Disease Ontology)
- MIM:274000
- Cross Reference ID (Disease Ontology)
- NCI:C99038
- Cross Reference ID (Disease Ontology)
- ORDO:3320
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:85589009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0175703
- OrphaNumber from OrphaNet (Orphanet)
- 3320