Bent Bone Dysplasia Syndrome 2
Disease ID: disease_node_19036
Connections displayed (default: 10).
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| Dbxref | MIM:620076 |
|---|---|
| Subclassof | DOID_0080005, DOID_0050737 |
| Data Source | DOID |
| Doid Label | bent bone dysplasia syndrome 2 |
| Doid Description | A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19036 |
| Doid Id | DOID_0060993 |
| Label | Bent Bone Dysplasia Syndrome 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Bone Remodeling Disease(ID:disease_node_13714) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)