Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

PSEUDOHYPOPARATHYROIDISM, TYPE IA
Synonyms

ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE
ID

http://purl.bioontology.org/ontology/OMIM/103580
altLabel

ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE

PHP1A

PHP IA
cui

C3494506
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/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/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/MTHU026748

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU026746

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

http://purl.bioontology.org/ontology/OMIM/MTHU001833

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/MTHU021275

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU026747

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

Phenotype description, molecular basis known.
Moved from

103581

300800
notation

103580
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PSEUDOHYPOPARATHYROIDISM, TYPE IA
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D011547 Medical Subject Headings CUI