Online Mendelian Inheritance in Man - CREB-BINDING PROTEIN - Classes

Preferred Name	CREB-BINDING PROTEIN
Synonyms	CREBBP
ID	http://purl.bioontology.org/ontology/OMIM/600140
altLabel	CREBBP RUBINSTEIN-TAYBI SYNDROME 1, INCOMPLETE CBP RUBINSTEIN-TAYBI SYNDROME 1 CBP/MOZ FUSION GENE
cui	C1337090 C1838593 C4016649 C0035934
Gene Locus	16p13.3
Gene Symbol	CREBBP RSTS1 CBP
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/600140.0007 http://purl.bioontology.org/ontology/OMIM/600140.0006 http://purl.bioontology.org/ontology/OMIM/600140.0008 http://purl.bioontology.org/ontology/OMIM/600140.0003 http://purl.bioontology.org/ontology/OMIM/600140.0004 http://purl.bioontology.org/ontology/OMIM/600140.0005 http://purl.bioontology.org/ontology/OMIM/600140.0002 http://purl.bioontology.org/ontology/OMIM/600140.0001
MIMTYPEMEANING	Gene with known sequence
notation	600140
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	CREB-BINDING PROTEIN
tui	T028 T033 T047

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Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17803	National Cancer Institute Thesaurus	LOOM
http://purl.obolibrary.org/obo/PR_000000090	Protein Ontology	LOOM
http://purl.bioontology.org/ontology/MESH/D050882	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.2	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/MESH/D012415	Medical Subject Headings	CUI