Muenke Syndrome
Information
- Disease name
- Muenke Syndrome
- Disease ID
- DOID:0060703
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18000976, url:https\://www.ncbi.nlm.nih.gov/pubmed/9042914]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00106977 | Completed | Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) | March 31, 2005 | March 23, 2020 |
- Disase is a (Disease Ontology)
- DOID:2340
- Cross Reference ID (Disease Ontology)
- GARD:7097
- Cross Reference ID (Disease Ontology)
- MESH:C537369
- Cross Reference ID (Disease Ontology)
- MIM:602849
- Cross Reference ID (Disease Ontology)
- NCI:C84904
- Cross Reference ID (Disease Ontology)
- ORDO:53271
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:440350001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1864436
- Exact Synonym (Disease Ontology)
- FGFR3-related craniosynostosis
- OrphaNumber from OrphaNet (Orphanet)
- 53271