ZFIN Human Disease: hyperphosphatemic familial tumoral calcinosis

OBO ID: DOID:0111063

Term Name:	hyperphosphatemic familial tumoral calcinosis		Search Ontology:
Synonyms:	cortical hyperostosis with hyperphosphatemia familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome familial Teutschlaender disease HFTC HHS hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender PHPTC primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia
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. (5)
References:	GARD:10879 ICD10CM:M11.2 OMIM:211900 ORDO:306661
Ontology:	Human Disease ( DOID:0111063 )

Relationships

is a type of:	autosomal recessive disease calcinosis inherited metabolic disorder autosomal recessive disease calcinosis inherited metabolic disorder Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GALNT3	galnt3	Tumoral calcinosis, hyperphosphatemic, familial, 1	211900

ZEBRAFISH MODELS

Fish	Conditions	Citations
golgb1^{bsl077/bsl077}	standard conditions	Stevenson et al., 2017
golgb1^{sa11389/sa11389}	standard conditions	Stevenson et al., 2017

PHENOTYPE No data available

CITATIONS (1)