spondylometaepiphyseal dysplasia, short limb-hand type
Information
- Disease name
- spondylometaepiphyseal dysplasia, short limb-hand type
- Disease ID
- DOID:0112196
- Description
- "A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3." [url:https\://pubmed.ncbi.nlm.nih.gov/31406622/, url:https\://pubmed.ncbi.nlm.nih.gov/8434618/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0080027
- Cross Reference ID (Disease Ontology)
- GARD:10616
- Cross Reference ID (Disease Ontology)
- MESH:C564794
- Cross Reference ID (Disease Ontology)
- MIM:271665
- Cross Reference ID (Disease Ontology)
- ORDO:93358
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1849011
- Exact Synonym (Disease Ontology)
- SMED short limb-abnormal calcification type
- Exact Synonym (Disease Ontology)
- SMED short limb-hand type
- Exact Synonym (Disease Ontology)
- SMED type 2
- Exact Synonym (Disease Ontology)
- SMED, type II
- Exact Synonym (Disease Ontology)
- SMED-SL
- Exact Synonym (Disease Ontology)
- SMED-SL/AC
- Exact Synonym (Disease Ontology)
- spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- Exact Synonym (Disease Ontology)
- spondylometaepiphyseal dysplasia short limb-hand type