ZFIN Human Disease: mulibrey nanism

OBO ID: DOID:0050436

Term Name:	mulibrey nanism		Search Ontology:
Synonyms:	MUL Mulibrey growth disorder Muscle-Liver-Brain-Eye Nanism Perheentupa Syndrome PERICARDIAL CONSTRICTION AND GROWTH FAILURE
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/
References:	GARD:95 MESH:D050336 NCI:C84906 OMIM:253250 ORDO:2576 SNOMEDCT_US_2023_03_01:81604003 UMLS_CUI:C0524582
Ontology:	Human Disease ( DOID:0050436 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TRIM37	trim37	Mulibrey nanism	253250

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None