acromesomelic dysplasia, Maroteaux type
Information
- Disease name
- acromesomelic dysplasia, Maroteaux type
- Disease ID
- DOID:0080050
- Description
- "An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments." [url:http\://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf, url:https\://en.wikipedia.org/wiki/Acromesomelic_dysplasia]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0080049
- Cross Reference ID (Disease Ontology)
- GARD:507
- Cross Reference ID (Disease Ontology)
- MESH:C535661
- Cross Reference ID (Disease Ontology)
- MIM:602875
- Cross Reference ID (Disease Ontology)
- ORDO:40
- Exact Synonym (Disease Ontology)
- acromesomelic dysplasia-1
- OrphaNumber from OrphaNet (Orphanet)
- 40