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Metadata
ID DOID:0050436
Name mulibrey nanism
Definition A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene.
https://rarediseases.org/rare-diseases/mulibrey-nanism/
Xrefs

GARD:95

MESH:D050336

NCI:C84906

OMIM:253250

ORDO:2576

SNOMEDCT_US_2020_09_01:81604003

UMLS_CUI:C0524582

Subsets

NCIthesaurus

Synonyms

MUL [EXACT]

Mulibrey growth disorder [EXACT]

Muscle-Liver-Brain-Eye Nanism [EXACT]

Perheentupa Syndrome [EXACT]

PERICARDIAL CONSTRICTION AND GROWTH FAILURE [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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