loading...| Preferred Name | Muenke syndrome | |
| Synonyms |
syndrome of coronal craniosynostosis Muenke nonsyndromic coronal craniosynostosis MNKES Muenke syndrome FGFR3-related craniosynostosis |
|
| Definitions |
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0011274 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0011274 |
|
| database_cross_reference |
OMIM:602849 Orphanet:53271 NCIT:C84904 MESH:C537369 SCTID:440350001 UMLS:C1864436 DOID:0060703 MEDGEN:355217 icd11.foundation:1860572017 GARD:7097 |
|
| definition |
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. |
|
| has_exact_synonym |
Muenke syndrome FGFR3-related craniosynostosis |
|
| has_related_synonym |
syndrome of coronal craniosynostosis Muenke nonsyndromic coronal craniosynostosis MNKES |
|
| IAO_0000233 | ||
| id |
MONDO:0011274 |
|
| 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 |
Muenke syndrome |
|
| notation |
MONDO:0011274 |
|
| preferred label |
Muenke syndrome |
|
| prefLabel |
Muenke syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/7097/muenke-syndrome |
|
| skos_exactMatch |
http://identifiers.org/snomedct/440350001 http://linkedlifedata.com/resource/umls/id/C1864436 http://purl.obolibrary.org/obo/Orphanet_53271 http://purl.obolibrary.org/obo/DOID_0060703 http://identifiers.org/mesh/C537369 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1860572017 |
|
| subClassOf |