Details of Disease

General Information of Disease (ID: DISCTV2L)

Disease Name Ramon syndrome
Synonyms
gingival fibromatosis combined with cherubism; cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted Growth; cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISPPN0O: Musculoskeletal disorder
DISCTV2L: Ramon syndrome
Disease Identifiers
MONDO ID
MONDO_0009954
MESH ID
C535285
UMLS CUI
C0796133
OMIM ID
266270
MedGen ID
208669
Orphanet ID
3019

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ELMO2 OTKDOC2M Supportive Autosomal recessive [1]
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References

1 Homozygous mutation in ELMO2 may cause Ramon syndrome. Clin Genet. 2018 Mar;93(3):703-706. doi: 10.1111/cge.13166. Epub 2018 Jan 25.