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mulibrey nanism
Summary
- Synonym
-
- MUL
- Mulibrey growth disorder
- Muscle-Liver-Brain-Eye Nanism
- PERICARDIAL CONSTRICTION AND GROWTH FAILURE
- Perheentupa Syndrome
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0050436
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
