Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

PSEUDOPSEUDOHYPOPARATHYROIDISM

Synonyms

PPHP

ID

http://purl.bioontology.org/ontology/OMIM/612463

altLabel

PPHP

ALBRIGHT HEREDITARY OSTEODYSTROPHY WITHOUT MULTIPLE HORMONE RESISTANCE

cui

C0033835

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/MTHU030168

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

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

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/MTHU021274

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

http://purl.bioontology.org/ontology/OMIM/MTHU030169

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/MTHU000250

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/MTHU006492

http://purl.bioontology.org/ontology/OMIM/MTHU021273

http://purl.bioontology.org/ontology/OMIM/MTHU021277

http://purl.bioontology.org/ontology/OMIM/MTHU021275

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

http://purl.bioontology.org/ontology/OMIM/MTHU005428

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

612463

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

PSEUDOPSEUDOHYPOPARATHYROIDISM

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D011556 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D011556 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_4183 Human Disease Ontology 123 LOOM