geleophysic dysplasia
Information
- Disease name
- geleophysic dysplasia
- Disease ID
- DOID:0111724
- Description
- "A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis." [url:https\://ghr.nlm.nih.gov/condition/geleophysic-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301776, url:https\://www.ncbi.nlm.nih.gov/pubmed/31516831]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0080006
- Cross Reference ID (Disease Ontology)
- GARD:2449
- Cross Reference ID (Disease Ontology)
- MEDDRA:10063361
- Cross Reference ID (Disease Ontology)
- MIM:PS231050
- Cross Reference ID (Disease Ontology)
- ORDO:2623
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:28557005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C3489726
- Exact Synonym (Disease Ontology)
- geleophysic dwarfism
- Exact Synonym (Disease Ontology)
- GPHYSD
- OMIM Phenotype Series Number (OMIM)
- PS231050
- OrphaNumber from OrphaNet (Orphanet)
- 2623