Preferred Name

thrombocytopenia-absent radius syndrome

Synonyms

1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome

thrombocytopenia-absent radius syndrome

thrombocytopenia with absent radii (TAR) syndrome

radial aplasia-thrombocytopenia syndrome

TAR syndrome

absent radii and thrombocytopenia

thrombocytopenia absent radii

thrombocytopenia absent radius syndrome

chromosome 1Q21.1 deletion syndrome, 200-Kb

TAR

Tar syndrome

Definitions

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

ID

http://purl.obolibrary.org/obo/MONDO_0010121

has_exact_synonym

1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome

thrombocytopenia-absent radius syndrome

thrombocytopenia with absent radii (TAR) syndrome

radial aplasia-thrombocytopenia syndrome

TAR syndrome

has_related_synonym

absent radii and thrombocytopenia

thrombocytopenia absent radii

thrombocytopenia absent radius syndrome

chromosome 1Q21.1 deletion syndrome, 200-Kb

TAR

Tar syndrome

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4948

label

thrombocytopenia-absent radius syndrome

prefixIRI

MONDO:0010121

prefLabel

thrombocytopenia-absent radius syndrome

textual definition

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0018795

http://purl.obolibrary.org/obo/MONDO_0019713

http://purl.obolibrary.org/obo/MONDO_0009332

http://purl.obolibrary.org/obo/MONDO_0002254

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