| Metadata | |
|---|---|
| ID | DOID:0060654 |
| Name | lethal congenital contracture syndrome 4 |
| Definition | A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23. https://www.ncbi.nlm.nih.gov/pubmed/22610851 |
| Xrefs | |
| SKOS |
exactMatch MIM:614915 |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |