Pfeiffer syndrome
Information
- Disease name
- Pfeiffer syndrome
- Disease ID
- DOID:14705
- Description
- "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull." [url:http\://en.wikipedia.org/wiki/Pfeiffer_syndrome, url:http\://ghr.nlm.nih.gov/condition/pfeiffer-syndrome, url:http\://www.healthline.com/galecontent/pfeiffer-syndrome, url:https\://www.faces-cranio.org/pfeiffer]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| FGFR2 | 10 | 121,478,332 | 121,598,444 | 2 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:12960
- Cross Reference ID (Disease Ontology)
- GARD:7380
- Cross Reference ID (Disease Ontology)
- MESH:D000168
- Cross Reference ID (Disease Ontology)
- MIM:101600
- Cross Reference ID (Disease Ontology)
- NCI:C99100
- Cross Reference ID (Disease Ontology)
- ORDO:710
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:70410008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0220658
- Exact Synonym (Disease Ontology)
- acrocephalosyndactylia type V
- OrphaNumber from OrphaNet (Orphanet)
- 710