Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

PSEUDOHYPOPARATHYROIDISM, TYPE IC
Synonyms

PHP1C
ID

http://purl.bioontology.org/ontology/OMIM/612462
altLabel

PHP1C

PHP IC
cui

C2932716
Gene Locus

20q13.2
Gene Symbol

AHO

PITA3

GNAS1

PHP1B

PHP1C

GNAS

POH

GPSA

PHP1A
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU005669

http://purl.bioontology.org/ontology/OMIM/MTHU000132

http://purl.bioontology.org/ontology/OMIM/MTHU030168

http://purl.bioontology.org/ontology/OMIM/MTHU002993

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU014610

http://purl.bioontology.org/ontology/OMIM/MTHU004914

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU004637

http://purl.bioontology.org/ontology/OMIM/MTHU002670

http://purl.bioontology.org/ontology/OMIM/MTHU005113

http://purl.bioontology.org/ontology/OMIM/MTHU021280

http://purl.bioontology.org/ontology/OMIM/MTHU041152

http://purl.bioontology.org/ontology/OMIM/MTHU021278

http://purl.bioontology.org/ontology/OMIM/MTHU030167

http://purl.bioontology.org/ontology/OMIM/MTHU005783

http://purl.bioontology.org/ontology/OMIM/MTHU002014

http://purl.bioontology.org/ontology/OMIM/MTHU019665

http://purl.bioontology.org/ontology/OMIM/MTHU019663

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU000250

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU002380

http://purl.bioontology.org/ontology/OMIM/MTHU036379

http://purl.bioontology.org/ontology/OMIM/MTHU005119

http://purl.bioontology.org/ontology/OMIM/MTHU000242

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

http://purl.bioontology.org/ontology/OMIM/MTHU006492

http://purl.bioontology.org/ontology/OMIM/MTHU019664

http://purl.bioontology.org/ontology/OMIM/MTHU019662

http://purl.bioontology.org/ontology/OMIM/MTHU019666
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

612462
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PSEUDOHYPOPARATHYROIDISM, TYPE IC
tui

T047
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http://purl.bioontology.org/ontology/MESH/C548076 Medical Subject Headings CUI