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DO Term : mulibrey nanism [DOID:0050436] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
PERICARDIAL CONSTRICTION AND GROWTH FAILURE,
253250,
OMIM:253250,
Perheentupa Syndrome,
NCI:C84906,
SNOMEDCT_US_2023_03_01:81604003,
Muscle-Liver-Brain-Eye Nanism,
MESH:D050336,
GARD:95,
MUL,
Mulibrey growth disorder,
ORDO:2576,
UMLS_CUI:C0524582

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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