FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term thrombocytopenia-absent radius syndrome ID (Ontology) DOID:14699 (Human Disease)
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.
Also Known As "Radial aplasia-thrombocytopenia syndrome" ; "Thrombocytopenia with absent radii (TAR) syndrome"
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 Genes
 thrombocytopenia-absent radius syndrome       1
 for disease ribbon | thrombocytopenia-absent radius syndrome       1
 model of | thrombocytopenia-absent radius syndrome       1
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autosomal genetic disease
 |__autosomal recessive disease____
chromosomal disease                |
 |__chromosomal deletion syndrome__|
disease                            |
 |__syndrome_______________________|
                                   thrombocytopenia-absent radius syndrome  1 rec.
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Is a autosomal recessive disease
chromosomal deletion syndrome
syndrome
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Synonyms
  • "Radial aplasia-thrombocytopenia syndrome" EXACT
    "Thrombocytopenia with absent radii (TAR) syndrome" EXACT
Secondary IDs
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ICD10CM:Q87.2
MESH:C536940
MIM:274000
NCI:C99038
ORDO:3320
SNOMEDCT_US_2023_03_01:85589009
UMLS_CUI:C0175703