Smith-McCort dysplasia
Information
- Disease name
- Smith-McCort dysplasia
- Disease ID
- DOID:0060247
- Description
- "A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest." [url:https\://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/1216821]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0111167
- Cross Reference ID (Disease Ontology)
- GARD:10620
- Cross Reference ID (Disease Ontology)
- MESH:C564589
- Cross Reference ID (Disease Ontology)
- MIM:PS607326
- Cross Reference ID (Disease Ontology)
- ORDO:178355
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:715862006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1846431
- OMIM Phenotype Series Number (OMIM)
- PS607326
- OrphaNumber from OrphaNet (Orphanet)
- 178355