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Metadata
ID DOID:14699
Name thrombocytopenia-absent radius 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.
https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome, https://www.ncbi.nlm.nih.gov/books/NBK23758/
Xrefs

ICD10CM:Q87.2

MESH:C536940

NCI:C99038

OMIM:274000

ORDO:3320

SNOMEDCT_US_2020_09_01:85589009

UMLS_CUI:C0175703

Subsets

NCIthesaurus

Synonyms

chromosome 1q21.1 deletion syndrome [EXACT]

Radial aplasia-thrombocytopenia syndrome [EXACT]

Thrombocytopenia with absent radii (TAR) syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a chromosomal deletion syndrome

is_a autosomal recessive disease

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