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Metadata
ID DOID:0070650
Name Ramon syndrome
Definition A syndrome characterized by cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth.
https://pubmed.ncbi.nlm.nih.gov/5235465/, https://pubmed.ncbi.nlm.nih.gov/3789007/
Xrefs

GARD:7523

MESH:C535285

MIM:266270

ORDO:3019

UMLS_CUI:C0796133

SKOS

exactMatch MESH:C535285

exactMatch MIM:266270

exactMatch ORDO:3019

exactMatch GARD:7523

exactMatch UMLS_CUI:C0796133

broadMatch ICD10CM:Q87.8

Subsets

DO_rare_slim

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

disease has feature some cherubism

has material basis in some autosomal recessive inheritance

disease has feature some gingival fibromatosis

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