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radioulnar synostosis with amegakaryocytic thrombocytopenia 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0024558

Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome radioulnar synostosis with amegakaryocytic thrombocytopenia 1 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, rare, nord_rare, clingen

IAO 0000233

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C4551975

http://identifiers.org/medgen/1637913

https://omim.org/entry/605432

has related synonym

thrombocytopenia, congenital, with radioulnar synostosis

Rusat

RUSAT1

id

MONDO:0024558