loading...| 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 |