Osteosclerotic Metaphyseal Dysplasia
Disease ID: disease_node_15676
Connections displayed (default: 10).
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| Dbxref | MIM:615198, ORDO:500548 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080019 |
| Data Source | DOID |
| Doid Label | osteosclerotic metaphyseal dysplasia |
| Doid Description | A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predomitly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15676 |
| Doid Id | DOID_0081111 |
| Label | Osteosclerotic Metaphyseal Dysplasia |
- Outgoing r'ship
SUBCLASS_OFto/from Metaphyseal Dysplasia(ID:disease_node_15675) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)