Bent Bone Dysplasia Syndrome 1
Disease ID: disease_node_19037
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| Dbxref | MIM:614592 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080005 |
| Data Source | DOID |
| Doid Label | bent bone dysplasia syndrome 1 |
| Doid Description | A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19037 |
| Doid Id | DOID_0060992 |
| Label | Bent Bone Dysplasia Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Bone Remodeling Disease(ID:disease_node_13714) (Disease)