loading...| Preferred Name |
hyperphosphatemic familial tumoral calcinosis |
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| Synonyms |
HHS |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111063 |
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| database_cross_reference |
OMIM:211900 ICD10CM:M11.2 ORDO:306661 GARD:10879 |
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| definition |
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 exact synonym |
HHS lipocalcinogranulomatosis familial Teutschlaender disease hyperphosphatemia hyperostosis hyperphosphatemia tumoral calcinosis PHPTC familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome HFTC cortical hyperostosis with hyperphosphatemia hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis syndrome tumoral calcinosis with hyperphosphatemia hypercalcemic tumoral calcinosis primary hyperphosphatemic tumoral calcinosis morbus Teutschlaender |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0111063 |
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| in_subset | ||
| label |
hyperphosphatemic familial tumoral calcinosis |
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| notation |
DOID:0111063 |
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| prefLabel |
hyperphosphatemic familial tumoral calcinosis |
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| subClassOf |
http://purl.obolibrary.org/obo/DOID_182 |