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thrombocytopenia-absent radius syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_14699

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://www.ncbi.nlm.nih.gov/books/NBK23758/ url:https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome ]

Synonyms: Radial aplasia-thrombocytopenia syndrome Thrombocytopenia with absent radii (TAR) syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C536940
  • NCI:C99038
  • ORDO:3320
  • ICD10CM:Q87.2
  • UMLS_CUI:C0175703
  • MIM:274000
  • SNOMEDCT_US_2023_03_01:85589009
Subsets

DO_rare_slim, NCIthesaurus

comment

OMIM mapping confirmed by DO. [LS].

has obo namespace

disease_ontology

id

DOID:14699