mulibrey nanism

Term ID

DOID:0050436

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 )