Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/617994
http://purl.bioontology.org/ontology/OMIM/617994
Preferred Name

TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
Synonyms
HFTC3
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
HFTC3
prefLabel
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
Gene Symbol
KL
HFTC3
KLOTHO
Scope Statement
Caused by mutation in the klotho gene (KLOTHO, 604824.0002) [MOLECULAR BASIS]
Based on description of 1 patient (last curated May 2020) [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU070525
http://purl.bioontology.org/ontology/OMIM/MTHU070517
http://purl.bioontology.org/ontology/OMIM/MTHU070519
http://purl.bioontology.org/ontology/OMIM/MTHU070520
http://purl.bioontology.org/ontology/OMIM/MTHU056931
http://purl.bioontology.org/ontology/OMIM/MTHU070526
http://purl.bioontology.org/ontology/OMIM/MTHU027755
http://purl.bioontology.org/ontology/OMIM/MTHU005117
http://purl.bioontology.org/ontology/OMIM/MTHU070527
http://purl.bioontology.org/ontology/OMIM/MTHU070518
http://purl.bioontology.org/ontology/OMIM/MTHU070523
http://purl.bioontology.org/ontology/OMIM/MTHU070524
http://purl.bioontology.org/ontology/OMIM/MTHU021415
http://purl.bioontology.org/ontology/OMIM/MTHU070522
http://purl.bioontology.org/ontology/OMIM/MTHU070521
http://purl.bioontology.org/ontology/OMIM/MTHU062841
http://purl.bioontology.org/ontology/OMIM/MTHU036717
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tui
T047
Gene Locus
13q12
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
617994
Semantic type UMLS property
Has inheritance type
cui
C4693864
OMIM Entry Type
3
OMIM MimType Value
pound
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