loading...| Preferred Name |
Crouzon syndrome |
|
| Synonyms |
craniofacial dysostosis, type 1 Crouzon's disease craniofacial dysostosis type 1 Crouzon disease Cfd1 craniofacial dysostosis Crouzon syndrome Crouzon craniofacial dysostosis |
|
| Definitions |
Crouzon disease is characterized by craniosynostosis and facial hypoplasia. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007405 |
|
| database_cross_reference |
UMLS:C0010273 GARD:6206 SCTID:28861008 OMIM:123500 NCIT:C84653 MESH:D003394 DOID:2339 NORD:1018 Orphanet:207 |
|
| definition |
Crouzon disease is characterized by craniosynostosis and facial hypoplasia. |
|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_207 http://linkedlifedata.com/resource/umls/id/C0010273 http://purl.obolibrary.org/obo/DOID_2339 http://identifiers.org/snomedct/28861008 |
|
| has_exact_synonym |
craniofacial dysostosis Crouzon syndrome Crouzon 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#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
|
| label |
Crouzon syndrome |
|
| notation |
MONDO:0007405 |
|
| preferred label |
Crouzon syndrome |
|
| prefLabel |
Crouzon syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/6206/crouzon-syndrome |
|
| excluded_subClassOf | ||
| subClassOf |