About: thrombocytopenia-absent radius syndrome

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [LS].

Attributes	Values
type	Class
subClassOf	autosomal recessive disease chromosomal deletion syndrome syndrome nodeID://b50949716 nodeID://b50949717
label	thrombocytopenia-absent radius syndrome
comment	OMIM mapping confirmed by DO. [LS].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:14699
database_cross_reference	ICD10CM:Q87.2 MESH:C536940 NCI:C99038 OMIM:274000 ORDO:3320 SNOMEDCT_US_2021_09_01:85589009 UMLS_CUI:C0175703
has_exact_synonym	Radial aplasia-thrombocytopenia syndrome (en) Thrombocytopenia with absent radii (TAR) syndrome (en) chromosome 1q21.1 deletion syndrome (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50949718

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