Preferred Name | craniosynostosis 1 | |
Synonyms |
CRS1 |
|
Definitions |
A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0061010 |
|
database_cross_reference |
MIM:123100 |
|
definition |
A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. |
|
has exact synonym |
CRS1 |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0061010 |
|
label |
craniosynostosis 1 |
|
notation |
DOID:0061010 |
|
prefLabel |
craniosynostosis 1 |
|
subClassOf |
Create mapping
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/OMIM/123100 | OMIM | LOOM | |
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 |