Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

CRANIOSYNOSTOSIS 1
Synonyms

CRANIOSTENOSIS
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
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http://purl.bioontology.org/ontology/MESH/D003398 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D003398 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10048907 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10048907 MDRGER 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.bioontology.org/ontology/MDRFRE/10048907 MDRFRE 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