Lethal Congenital Contracture Syndrome 3
Disease ID: disease_node_20329
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| Dbxref | MIM:611369, ORDO:137783 |
|---|---|
| Subclassof | DOID_0060558 |
| Data Source | DOID |
| Synonyms | Israeli Bedouin type B multiple contracture syndrome |
| Doid Label | lethal congenital contracture syndrome 3 |
| Doid Description | A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. |
| Disease Node Id | disease_node_20329 |
| Doid Id | DOID_0060653 |
| Disease Has Basis In | HP_0001197 |
| Label | Lethal Congenital Contracture Syndrome 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Lethal Congenital Contracture Syndrome(ID:disease_node_20327) (Disease)