| Metadata | |
|---|---|
| ID | DOID:0060653 |
| Name | lethal congenital contracture syndrome 3 |
| Definition | A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/17701898 |
| Xrefs | |
| SKOS |
exactMatch MIM:611369 |
| Subsets |
DO_rare_slim |
| Synonyms |
Israeli Bedouin type B multiple contracture syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |