Human Disease Ontology

Last uploaded: February 5, 2025
Id http://purl.obolibrary.org/obo/DOID_0060703
http://purl.obolibrary.org/obo/DOID_0060703
Preferred Name

Muenke Syndrome

Definitions
A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.
Synonyms
FGFR3-related craniosynostosis
Type http://www.w3.org/2002/07/owl#Class
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