Familial Hypophosphatemic Rickets
Disease ID: disease_node_11643
Connections displayed (default: 10).
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| Dbxref | MESH:D053098, MIM:307800, NCI:C85234, UMLS_CUI:C0733682, UMLS_CUI:C1845168, UMLS_CUI:C3540852 |
|---|---|
| Subclassof | DOID_10609, DOID_0080009 |
| Data Source | DOID, MESH |
| Synonyms | Hypophosphatemia, Vitamin D-Resistant Rickets, Vitamin D-Resistant Rickets, X-Linked, X-linked hypophosphatemia, hypophosphatemic rickets X-linked dominant |
| Mesh Id | D053098 |
| Mesh Label | Familial Hypophosphatemic Rickets |
| Mesh Subclassof | D007015, D063730 |
| Doid Label | X-linked domit hypophosphatemic rickets |
| Doid Description | A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_11643 |
| Doid Id | DOID_0050445 |
| Label | Familial Hypophosphatemic Rickets |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Rickets(ID:disease_node_6679) (Disease)