acrodysostosis
Information
- Disease name
- acrodysostosis
- Disease ID
- DOID:14669
- Description
- "A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency." [url:http\://children.webmd.com/acrodysostosis, url:http\://en.wikipedia.org/wiki/Acrodysostosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001248.htm]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| PRKAR1A | 17 | 68,511,780 | 68,534,550 | 8 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:1934
- Cross Reference ID (Disease Ontology)
- GARD:2015
- Cross Reference ID (Disease Ontology)
- GARD:5724
- Cross Reference ID (Disease Ontology)
- MESH:C538179
- Cross Reference ID (Disease Ontology)
- MIM:101800
- Cross Reference ID (Disease Ontology)
- MIM:614613
- Cross Reference ID (Disease Ontology)
- ORDO:950
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:66758006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0220659
- OMIM Phenotype Series Number (OMIM)
- PS101800
- OrphaNumber from OrphaNet (Orphanet)
- 950