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radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0011555

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). [ Orphanet:71289 ]

Synonyms: ATRUS syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • OMIMPS:605432 (MONDO:equivalentTo)
  • GARD:16687 (MONDO:GARD)
  • Orphanet:71289 (OMIM:605432)
  • SCTID:721882001 (MONDO:equivalentTo)
  • UMLS:C1854273 (MONDO:equivalentTo)
  • MESH:C565328 (MONDO:equivalentTo)
  • MEDGEN:340183 (MONDO:equivalentTo)
  • NANDO:2200660 (https://orcid.org/0000-0003-0011-764X)
Subsets

gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6751

exactMatch

http://linkedlifedata.com/resource/umls/id/C1854273

http://identifiers.org/snomedct/721882001

http://identifiers.org/medgen/340183

http://www.orpha.net/ORDO/Orphanet_71289

http://identifiers.org/mesh/C565328

https://omim.org/phenotypicSeries/PS605432

has related synonym

radioulnar synostosis with amegakaryocytic thrombocytopenia

RUSAT

id

MONDO:0011555