spondylometaphyseal dysplasia
Information
- Disease name
- spondylometaphyseal dysplasia
- Disease ID
- DOID:0112295
- Description
- "An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions." [url:https\://pubmed.ncbi.nlm.nih.gov/16752352/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- ORDO:254
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0002657
- OrphaNumber from OrphaNet (Orphanet)
- 254
- MedGen concept unique identifier (MedGen Concept name)
- C0700635
- MedGen unique identifier (MedGen Concept name)
- 147134