Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

HYPOPARATHYROIDISM, FAMILIAL ISOLATED
Synonyms

HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT
ID

http://purl.bioontology.org/ontology/OMIM/146200
altLabel

HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT

FIH

HYPOPARATHYROIDISM, AUTOSOMAL RECESSIVE
cui

C1832648

C0342345

C1840334
Gene Locus

6p24.2
Gene Symbol

HRPT4

GCMB

GCM2
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

241400
notation

146200
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HYPOPARATHYROIDISM, FAMILIAL ISOLATED
tui

T047
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http://purl.bioontology.org/ontology/MESH/C537156 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537156 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/MESH/C564148 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C562783 Medical Subject Headings CUI