Online Mendelian Inheritance in Man - TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/211900 http://purl.bioontology.org/ontology/OMIM/211900
Preferred Name	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
Synonyms	HFTC1 HHS HYPEROSTOSIS WITH HYPERPHOSPHATEMIA MORBUS TEUTSCHLAENDER TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME PHPTC CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA HFTC LIPOCALCINOGRANULOMATOSIS TEUTSCHLAENDER DISEASE, FAMILIAL CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL See more See less
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HFTC1 HHS HYPEROSTOSIS WITH HYPERPHOSPHATEMIA MORBUS TEUTSCHLAENDER TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME PHPTC CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA HFTC LIPOCALCINOGRANULOMATOSIS TEUTSCHLAENDER DISEASE, FAMILIAL CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL See more See less
prefLabel	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
Gene Symbol	GALNT3 HFTC1 HHS
Scope Statement	Variable manifestations [MISCELLANEOUS] Caused by mutation in the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 gene (GALNT3, 601756.0001) [MOLECULAR BASIS] Onset in first decade of life [MISCELLANEOUS] High prevalence among individuals of Middle Eastern or African descent [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU022011 http://purl.bioontology.org/ontology/OMIM/MTHU015047 http://purl.bioontology.org/ontology/OMIM/MTHU067520 http://purl.bioontology.org/ontology/OMIM/MTHU007513 http://purl.bioontology.org/ontology/OMIM/MTHU006835 http://purl.bioontology.org/ontology/OMIM/MTHU020825 http://purl.bioontology.org/ontology/OMIM/MTHU020834 http://purl.bioontology.org/ontology/OMIM/MTHU020832 http://purl.bioontology.org/ontology/OMIM/MTHU020835 http://purl.bioontology.org/ontology/OMIM/MTHU022010 http://purl.bioontology.org/ontology/OMIM/MTHU020823 http://purl.bioontology.org/ontology/OMIM/MTHU018459 http://purl.bioontology.org/ontology/OMIM/MTHU022008 http://purl.bioontology.org/ontology/OMIM/MTHU020831 http://purl.bioontology.org/ontology/OMIM/MTHU027755 http://purl.bioontology.org/ontology/OMIM/MTHU020829 http://purl.bioontology.org/ontology/OMIM/MTHU020833 http://purl.bioontology.org/ontology/OMIM/MTHU005117 http://purl.bioontology.org/ontology/OMIM/MTHU022009 http://purl.bioontology.org/ontology/OMIM/MTHU020820 http://purl.bioontology.org/ontology/OMIM/MTHU067519 http://purl.bioontology.org/ontology/OMIM/MTHU020836 http://purl.bioontology.org/ontology/OMIM/MTHU020821 http://purl.bioontology.org/ontology/OMIM/MTHU020828 http://purl.bioontology.org/ontology/OMIM/MTHU020824 http://purl.bioontology.org/ontology/OMIM/MTHU020826 http://purl.bioontology.org/ontology/OMIM/MTHU067518 http://purl.bioontology.org/ontology/OMIM/MTHU020830 http://purl.bioontology.org/ontology/OMIM/MTHU021415 http://purl.bioontology.org/ontology/OMIM/MTHU007744 See more See less
tui	T047
Gene Locus	2q24-q31
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	211900
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1876187 C4692564
Moved from	114120 610233
OMIM Entry Type	3
OMIM MimType Value	pound

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