Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL

Synonyms

HFTC

ID

http://purl.bioontology.org/ontology/OMIM/211900

altLabel

HFTC

CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA

HHS

TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC

LIPOCALCINOGRANULOMATOSIS

HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME

TEUTSCHLAENDER DISEASE, FAMILIAL

PHPTC

HYPEROSTOSIS WITH HYPERPHOSPHATEMIA

CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA

MORBUS TEUTSCHLAENDER

cui

C1876187

Gene Locus

12p13.3

Gene Symbol

FGF23

HPDR2

PHPTC

ADHR

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU022009

http://purl.bioontology.org/ontology/OMIM/MTHU020828

http://purl.bioontology.org/ontology/OMIM/MTHU020822

http://purl.bioontology.org/ontology/OMIM/MTHU020829

http://purl.bioontology.org/ontology/OMIM/MTHU020824

http://purl.bioontology.org/ontology/OMIM/MTHU027756

http://purl.bioontology.org/ontology/OMIM/MTHU020832

http://purl.bioontology.org/ontology/OMIM/MTHU027758

http://purl.bioontology.org/ontology/OMIM/MTHU020820

http://purl.bioontology.org/ontology/OMIM/MTHU020826

http://purl.bioontology.org/ontology/OMIM/MTHU022012

http://purl.bioontology.org/ontology/OMIM/MTHU022010

http://purl.bioontology.org/ontology/OMIM/MTHU020836

http://purl.bioontology.org/ontology/OMIM/MTHU020840

http://purl.bioontology.org/ontology/OMIM/MTHU020830

http://purl.bioontology.org/ontology/OMIM/MTHU020834

http://purl.bioontology.org/ontology/OMIM/MTHU007513

http://purl.bioontology.org/ontology/OMIM/MTHU003811

http://purl.bioontology.org/ontology/OMIM/MTHU006835

http://purl.bioontology.org/ontology/OMIM/MTHU022008

http://purl.bioontology.org/ontology/OMIM/MTHU020825

http://purl.bioontology.org/ontology/OMIM/MTHU027757

http://purl.bioontology.org/ontology/OMIM/MTHU020823

http://purl.bioontology.org/ontology/OMIM/MTHU020821

http://purl.bioontology.org/ontology/OMIM/MTHU020835

http://purl.bioontology.org/ontology/OMIM/MTHU020839

http://purl.bioontology.org/ontology/OMIM/MTHU020833

http://purl.bioontology.org/ontology/OMIM/MTHU005117

http://purl.bioontology.org/ontology/OMIM/MTHU027759

http://purl.bioontology.org/ontology/OMIM/MTHU020831

http://purl.bioontology.org/ontology/OMIM/MTHU018459

http://purl.bioontology.org/ontology/OMIM/MTHU020827

http://purl.bioontology.org/ontology/OMIM/MTHU027755

http://purl.bioontology.org/ontology/OMIM/MTHU022011

http://purl.bioontology.org/ontology/OMIM/MTHU021415

http://purl.bioontology.org/ontology/OMIM/MTHU015047

http://purl.bioontology.org/ontology/OMIM/MTHU007744

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

114120

610233

notation

211900

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C566870 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566870 Medical Subject Headings LOOM