Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	PSEUDOHYPOPARATHYROIDISM, TYPE IB
Synonyms	PHP1B
ID	http://purl.bioontology.org/ontology/OMIM/603233
altLabel	PHP1B PHP IB
cui	C1864100
Gene Locus	20q13.2
Gene Symbol	NESPAS SANG GNASAS GNASAS1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU038601 http://purl.bioontology.org/ontology/OMIM/MTHU029341 http://purl.bioontology.org/ontology/OMIM/MTHU029343 http://purl.bioontology.org/ontology/OMIM/MTHU005113 http://purl.bioontology.org/ontology/OMIM/MTHU022454 http://purl.bioontology.org/ontology/OMIM/MTHU029345 http://purl.bioontology.org/ontology/OMIM/MTHU025374 http://purl.bioontology.org/ontology/OMIM/MTHU021278 http://purl.bioontology.org/ontology/OMIM/MTHU042603 http://purl.bioontology.org/ontology/OMIM/MTHU036379 http://purl.bioontology.org/ontology/OMIM/MTHU029344 http://purl.bioontology.org/ontology/OMIM/MTHU029342 http://purl.bioontology.org/ontology/OMIM/MTHU005119 http://purl.bioontology.org/ontology/OMIM/MTHU005117 http://purl.bioontology.org/ontology/OMIM/MTHU029340 http://purl.bioontology.org/ontology/OMIM/MTHU005115 http://purl.bioontology.org/ontology/OMIM/MTHU005112
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	603233
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	PSEUDOHYPOPARATHYROIDISM, TYPE IB
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D011547	Medical Subject Headings	CUI
	http://purl.obolibrary.org/obo/DOID_0080222	Human Disease Ontology 123	LOOM