Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015

Preferred Name	Craniosynostosis 1
Synonyms	CRS1
Definitions	(CRS1) - A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
ID	http://identifiers.org/omim/123100
altLabel	CRS1
definition	(CRS1) - A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
id	OMIM:123100
notation	OMIM:123100
prefLabel	Craniosynostosis 1
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://identifiers.org/omim/123100	GEXO	SAME_URI
http://identifiers.org/omim/123100	RETO	SAME_URI
http://purl.obolibrary.org/obo/DOID_0061010	DOID	LOOM
http://purl.bioontology.org/ontology/OMIM/123100	OMIM	LOOM
http://purl.obolibrary.org/obo/OMIM_123100	CCO	LOOM
http://identifiers.org/omim/123100	GEXO	LOOM
http://identifiers.org/omim/123100	RETO	LOOM