Jansen'S Metaphyseal Chondrodysplasia
Disease ID: disease_node_15678
Connections displayed (default: 10).
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| Dbxref | MIM:156400 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080019 |
| Data Source | DOID |
| Synonyms | Jansen Disease, Jansen Metaphyseal Dysostosis, Jansen metaphyseal chondrodysplasia, Murk Jansen Type Metaphyseal Chondrodysplasia |
| Doid Label | Jansen's metaphyseal chondrodysplasia |
| Doid Description | A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. |
| Has Phenotype | HP_0008873 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15678 |
| Doid Id | DOID_0080020 |
| Label | Jansen'S Metaphyseal Chondrodysplasia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Metaphyseal Dysplasia(ID:disease_node_15675) (Disease)