Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 72-KD
Synonyms	INPP5E
ID	http://purl.bioontology.org/ontology/OMIM/613037
altLabel	INPP5E JOUBERT SYNDROME 1 IMPAIRED INTELLECTUAL DEVELOPMENT, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME
cui	C1857802 C1427565 C4551568
Gene Locus	9q34.3
Gene Symbol	MORMS CORS1 INPP5E JBTS1
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/613037.0001 http://purl.bioontology.org/ontology/OMIM/613037.0003 http://purl.bioontology.org/ontology/OMIM/613037.0004 http://purl.bioontology.org/ontology/OMIM/613037.0002 http://purl.bioontology.org/ontology/OMIM/613037.0005
MIMTYPEMEANING	Gene with known sequence
notation	613037
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 72-KD
tui	T047 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C536984	MESH	CUI
http://purl.bioontology.org/ontology/MESH/C536293	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/715628009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/715628009	SCTSPA	CUI