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 |
|
| alternative label |
FGFR3-related craniosynostosis |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:440350001 OMIM:602849 MESH:C537369 UMLS_CUI:C1864436 GARD:7097 NCI:C84904 ORDO:53271 |
|
| 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 |
|
| note |
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. |
|
| preferred label |
Muenke Syndrome |
|
| prefLabel |
Muenke Syndrome |
|
| subClassOf |