Jackson-Weiss syndrome
Information
- Disease name
- Jackson-Weiss syndrome
- Disease ID
- DOID:0111337
- Description
- "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1271196, url:https\://www.ncbi.nlm.nih.gov/pubmed/7874170]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:6796
- Cross Reference ID (Disease Ontology)
- MESH:C537559
- Cross Reference ID (Disease Ontology)
- MIM:123150
- Cross Reference ID (Disease Ontology)
- NCI:C123814
- Cross Reference ID (Disease Ontology)
- ORDO:1540
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:709105005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0795998
- Exact Synonym (Disease Ontology)
- craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
- Exact Synonym (Disease Ontology)
- JWS
- OrphaNumber from OrphaNet (Orphanet)
- 1540