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Mondo Disease Ontology
| Preferred Name | Muenke syndrome | |
| Synonyms |
MNKES syndrome of coronal craniosynostosis Muenke nonsyndromic coronal craniosynostosis FGFR3-related craniosynostosis Muenke syndrome |
|
| 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 DOID:0060703 MEDGEN:355217 SCTID:440350001 Orphanet:53271 MESH:C537369 NCIT:C84904 GARD:7097 icd11.foundation:1860572017 UMLS:C1864436
|
|
| 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 |
FGFR3-related craniosynostosis Muenke syndrome
|
|
| has_related_synonym |
MNKES syndrome of coronal craniosynostosis Muenke nonsyndromic coronal craniosynostosis
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|
| IAO_0000233 | ||
| id |
MONDO:0011274
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome |
|
| label |
Muenke syndrome
|
|
| notation |
MONDO:0011274
|
|
| prefLabel |
Muenke syndrome
|
|
| seeAlso |
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 |
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