Greig cephalopolysyndactyly syndrome
Information
- Disease name
- Greig cephalopolysyndactyly syndrome
- Disease ID
- DOID:14761
- Description
- "An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face." [url:http\://en.wikipedia.org/wiki/Greig_cephalopolysyndactyly_syndrome, url:http\://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6550]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:12960
- Cross Reference ID (Disease Ontology)
- GARD:6550
- Cross Reference ID (Disease Ontology)
- MESH:C537300
- Cross Reference ID (Disease Ontology)
- MIM:175700
- Cross Reference ID (Disease Ontology)
- NCI:C35255
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:32985001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0265306
- Exact Synonym (Disease Ontology)
- polysyndactyly with peculiars skull shape
- OrphaNumber from OrphaNet (Orphanet)
- 380