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

altLabel

MNKES

syndrome of coronal craniosynostosis

Muenke nonsyndromic coronal craniosynostosis

FGFR3-related craniosynostosis

Muenke syndrome

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

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4948

label

Muenke syndrome

prefixIRI

MONDO:0011274

prefLabel

Muenke syndrome

seeAlso

https://rarediseases.info.nih.gov/diseases/7097/muenke-syndrome

textual definition

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0015338

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0011274 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011274 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011274 EFO SAME_URI
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http://purl.obolibrary.org/obo/MONDO_0011274 MONDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/787407003 SNOMEDCT LOOM
http://www.orpha.net/ORDO/Orphanet_53271 ORDO LOOM
http://purl.obolibrary.org/obo/OMIM_602849 CCO LOOM
http://purl.obolibrary.org/obo/MONDO_0011274 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0011274 EFO LOOM
http://identifiers.org/omim/602849 REXO LOOM
http://identifiers.org/omim/602849 GEXO LOOM
http://identifiers.org/omim/602849 RETO LOOM
http://purl.bioontology.org/ontology/MESH/C537369 MESH LOOM
http://purl.bioontology.org/ontology/OMIM/602849 OMIM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84904 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Muenke_Syndrome CSEO LOOM
http://purl.obolibrary.org/obo/DOID_0060703 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060703 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060703 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0060703 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060703 FNS-H LOOM
http://purl.bioontology.org/ontology/RCTV2/PG03000 RCTV2 LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10716 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537369 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10088781 MEDDRA LOOM
http://purl.obolibrary.org/obo/NCIT_C84904 BERO LOOM