melorheostosis
Information
- Disease name
- melorheostosis
- Disease ID
- DOID:4253
- Description
- "An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex." [url:http\://en.wikipedia.org/wiki/Melorheostosis, url:http\://www.melorheostosis.com/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00076830 | Completed | Evaluation and Treatment of Patients With Connective Tissue Disease | May 18, 2004 |
- Disase is a (Disease Ontology)
- DOID:4254
- Cross Reference ID (Disease Ontology)
- GARD:9474
- Cross Reference ID (Disease Ontology)
- MESH:D008557
- Cross Reference ID (Disease Ontology)
- MIM:155950
- Cross Reference ID (Disease Ontology)
- NCI:C84887
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:240173003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0025239
- OrphaNumber from OrphaNet (Orphanet)
- 2485
- MedGen concept unique identifier (MedGen Concept name)
- C0025239
- MedGen unique identifier (MedGen Concept name)
- 7525
- MeSH unique ID (MeSH (Medical Subject Headings))
- D008557