Preferred Name |
Muenke Syndrome |
Synonyms |
FGFR3-related craniosynostosis |
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. |
ID |
http://purl.obolibrary.org/obo/DOID_0060703 |
database_cross_reference |
UMLS_CUI:C1864436 ORDO:53271 OMIM:602849 SNOMEDCT_US_2022_09_01:440350001 GARD:7097 MESH:C537369 NCI:C84904 |
definition |
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. |
has exact synonym |
FGFR3-related craniosynostosis |
has material basis in | |
has_obo_namespace |
disease_ontology |
id |
DOID:0060703 |
in_subset | |
label |
Muenke Syndrome |
notation |
DOID:0060703 |
prefLabel |
Muenke Syndrome |
subClassOf |