Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/617993
http://purl.bioontology.org/ontology/OMIM/617993
Preferred Name

TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
Synonyms
HFTC2
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
HFTC2
prefLabel
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
Gene Symbol
ADHR
HFTC2
FGF23
PHPTC
HPDR2
Scope Statement
Caused by mutation in the fibroblast growth factor 23 gene (FGF23, 605380.0003) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU022011
http://purl.bioontology.org/ontology/OMIM/MTHU070512
http://purl.bioontology.org/ontology/OMIM/MTHU070510
http://purl.bioontology.org/ontology/OMIM/MTHU070509
http://purl.bioontology.org/ontology/OMIM/MTHU070514
http://purl.bioontology.org/ontology/OMIM/MTHU007513
http://purl.bioontology.org/ontology/OMIM/MTHU006835
http://purl.bioontology.org/ontology/OMIM/MTHU070516
http://purl.bioontology.org/ontology/OMIM/MTHU022010
http://purl.bioontology.org/ontology/OMIM/MTHU020827
http://purl.bioontology.org/ontology/OMIM/MTHU070515
http://purl.bioontology.org/ontology/OMIM/MTHU070513
http://purl.bioontology.org/ontology/OMIM/MTHU027755
http://purl.bioontology.org/ontology/OMIM/MTHU005117
http://purl.bioontology.org/ontology/OMIM/MTHU070511
http://purl.bioontology.org/ontology/OMIM/MTHU067518
http://purl.bioontology.org/ontology/OMIM/MTHU021415
http://purl.bioontology.org/ontology/OMIM/MTHU070508
http://purl.bioontology.org/ontology/OMIM/MTHU070507
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tui
T047
Gene Locus
12p13.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
617993
Semantic type UMLS property
Has inheritance type
cui
C4693863
OMIM Entry Type
3
OMIM MimType Value
pound
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