Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	CRANIOSYNOSTOSIS 1
Synonyms	CRANIOSTENOSIS CRS CRS1
ID	http://purl.bioontology.org/ontology/OMIM/123100
altLabel	CRANIOSTENOSIS CRS CRS1
cui	C4551902 C0010278
Gene Locus	7p21
Gene Symbol	CRS1 TWIST1 ACS3 SWCOS SCS
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	123100
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CRANIOSYNOSTOSIS 1
tui	T047

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D003398	MESH	CUI
http://purl.bioontology.org/ontology/MSHFRE/D003398	MSHFRE	CUI
http://purl.bioontology.org/ontology/ICD10/Q75.0	ICD10	CUI
http://purl.bioontology.org/ontology/MEDDRA/10049889	MEDDRA	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000870	NDFRT	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0010278	MEDLINEPLUS	CUI
http://purl.bioontology.org/ontology/MESH/D003398	MESH	CUI
http://purl.bioontology.org/ontology/HL7/C0010278	HL7	CUI
http://purl.bioontology.org/ontology/LNC/LA29639-4	LOINC	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q75.0	ICD10CM	CUI
http://purl.bioontology.org/ontology/RCD/XE1Lz	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/57219006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/57219006	SCTSPA	CUI
http://purl.bioontology.org/ontology/ICPC2P/N85006	ICPC2P	CUI
http://purl.bioontology.org/ontology/MDRGER/10049889	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRFRE/10049889	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D4-00C00	SNMI	CUI
http://purl.bioontology.org/ontology/CSP/0726-0275	CRISP	CUI
http://purl.obolibrary.org/obo/OMIM_123100	CCO	LOOM
http://identifiers.org/omim/123100	REXO	LOOM
http://identifiers.org/omim/123100	GEXO	LOOM
http://identifiers.org/omim/123100	RETO	LOOM