| Metadata | |
|---|---|
| ID | DOID:0050436 |
| Name | mulibrey nanism |
| 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/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:81604003 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
MUL [EXACT] Mulibrey growth disorder [EXACT] Muscle-Liver-Brain-Eye Nanism [EXACT] Perheentupa Syndrome [EXACT] PERICARDIAL CONSTRICTION AND GROWTH FAILURE [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |