Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss. [ http://www.ncbi.nlm.nih.gov/pubmed/29540340 https://orcid.org/0000-0002-7437-8060 ]

Synonyms: MECOM-associated syndrome

This is just here as a test because I lose it

Term information

Subsets

clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3952

creator

https://orcid.org/0000-0001-5208-3432

id

MONDO:0100458

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0100458

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