Search Ontology:
Human Disease
mulibrey nanism
- Term ID
- DOID:0050436
- Synonyms
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- 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
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- GARD:95
- MESH:D050336
- MIM:253250
- NCI:C84906
- ORDO:2576
- SNOMEDCT_US_2023_03_01:81604003
- UMLS_CUI:C0524582
- Ontology
- Human Disease ( DOID:0050436 )
- is a type of
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Genes Involved
Zebrafish Models