Human Disease Ontology

Last uploaded: March 2, 2018
Preferred Name

hyperphosphatemic familial tumoral calcinosis

Synonyms

primary hyperphosphatemic tumoral calcinosis

hypercalcemic tumoral calcinosis

hyperphosphatemia hyperostosis syndrome

HFTC

HHS

morbus Teutschlaender

cortical hyperostosis with hyperphosphatemia

tumoral calcinosis with hyperphosphatemia

hyperphosphatemia tumoral calcinosis

familial Teutschlaender disease

hyperostosis with hyperphosphatemia

PHPTC

hyperphosphatemia hyperostosis

lipocalcinogranulomatosis

familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome

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.

ID

http://purl.obolibrary.org/obo/DOID_0111063

database_cross_reference

OMIM:211900

ICD10CM:M11.2

ORDO:306661

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

primary hyperphosphatemic tumoral calcinosis

hypercalcemic tumoral calcinosis

hyperphosphatemia hyperostosis syndrome

HFTC

HHS

morbus Teutschlaender

cortical hyperostosis with hyperphosphatemia

tumoral calcinosis with hyperphosphatemia

hyperphosphatemia tumoral calcinosis

familial Teutschlaender disease

hyperostosis with hyperphosphatemia

PHPTC

hyperphosphatemia hyperostosis

lipocalcinogranulomatosis

familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome

has_obo_namespace

disease_ontology

id

DOID:0111063

label

hyperphosphatemic familial tumoral calcinosis

notation

DOID:0111063

prefLabel

hyperphosphatemic familial tumoral calcinosis

treeView

http://purl.obolibrary.org/obo/DOID_182

subClassOf

http://purl.obolibrary.org/obo/DOID_182

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http://purl.obolibrary.org/obo/DOID_0111063 MONDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0111063 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0111063 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008897 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008897 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C580183 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131851 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131851 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131851 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131851 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131851 NCIT LOOM