Hyperphosphatemic Familial Tumoral Calcinosis
Disease ID: disease_node_17442
Connections displayed (default: 10).
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| Dbxref | GARD:10879, ICD10CM:M11.2, MIM:211900, ORDO:306661 |
|---|---|
| Subclassof | DOID_655, DOID_182, DOID_0050737 |
| Data Source | DOID |
| Synonyms | HFTC, PHPTC, cortical hyperostosis with hyperphosphatemia, familial Teutschlaender disease, familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome, hypercalcemic tumoral calcinosis, hyperostosis with hyperphosphatemia, hyperphosphatemia hyperostosis, hyperphosphatemia hyperostosis syndrome, hyperphosphatemia tumoral calcinosis, lipocalcinogranulomatosis, morbus Teutschlaender, primary hyperphosphatemic tumoral calcinosis, tumoral calcinosis with hyperphosphatemia |
| Doid Label | hyperphosphatemic familial tumoral calcinosis |
| Doid Description | A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17442 |
| Doid Id | DOID_0111063 |
| Label | Hyperphosphatemic Familial Tumoral Calcinosis |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Metabolism, Inborn Errors(ID:disease_node_5171) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Calcinosis(ID:disease_node_1770) (Disease)