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mulibrey nanism

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description A prenatal onset growth disorder with multiorgan manifestations.
Uniprot Description An autosomal recessive growth disorder characterized by severe growth failure of prenatal onset, constrictive pericardium and progressive cardiomyopathy, facial dysmorphism, and failure of sexual maturation. Additional clinical features include hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, hypoplasia of various endocrine glands, insulin resistance with type 2 diabetes, and an increased risk for Wilms' tumor.
Disease Ontology Description An autosomal recessive disease 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.
Mondo Term and Equivalent IDs
MONDO:0009664:  mulibrey nanism
GARD:0000095: 
MESH:D050336: 
NCIT:C84906: 
Orphanet:2576: 
SCTID:81604003: 
UMLS:C0524582: 
UMLS:C2931895: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)