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Cell Culture Ontology
| Preferred Name | Crouzon syndrome | |
| Synonyms |
craniofacial dysostosis, type 1 Crouzon's disease craniofacial dysostosis type 1 Crouzon disease Cfd1 Crouzon craniofacial dysostosis Crouzon syndrome craniofacial dysostosis |
|
| Definitions |
Crouzon disease is characterized by craniosynostosis and facial hypoplasia. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007405 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0007405 |
|
| database_cross_reference |
icd11.foundation:1535725821 Orphanet:207 SCTID:28861008 MEDGEN:1162 NCIT:C84653 OMIM:123500 UMLS:C0010273 MESH:D003394 NANDO:1200666 NANDO:2200845 DOID:2339 GARD:6206 NORD:1018
|
|
| definition |
Crouzon disease is characterized by craniosynostosis and facial hypoplasia.
|
|
| has_exact_synonym |
Crouzon craniofacial dysostosis Crouzon syndrome craniofacial dysostosis
|
|
| has_related_synonym |
craniofacial dysostosis, type 1 Crouzon's disease craniofacial dysostosis type 1 Crouzon disease Cfd1
|
|
| IAO_0000233 | ||
| id |
MONDO:0007405
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Crouzon syndrome
|
|
| notation |
MONDO:0007405
|
|
| preferred label |
Crouzon syndrome
|
|
| prefLabel |
Crouzon syndrome
|
|
| see also |
https://rarediseases.info.nih.gov/diseases/6206/crouzon-syndrome |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_207 http://identifiers.org/medgen/1162 http://linkedlifedata.com/resource/umls/id/C0010273 http://purl.obolibrary.org/obo/DOID_2339 http://identifiers.org/snomedct/28861008 http://purl.obolibrary.org/obo/NCIT_C84653 http://identifiers.org/mesh/D003394 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1535725821 |
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| subClassOf | ||
| excluded_subClassOf |
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