brachydactyly type A1
Information
- Disease name
- brachydactyly type A1
- Disease ID
- DOID:0110964
- Description
- "A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12525541, url:https\://www.ncbi.nlm.nih.gov/pubmed/14043746]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050581
- Cross Reference ID (Disease Ontology)
- GARD:978
- Cross Reference ID (Disease Ontology)
- MESH:C537088
- Cross Reference ID (Disease Ontology)
- MIM:112500
- Cross Reference ID (Disease Ontology)
- ORDO:93388
- Exact Synonym (Disease Ontology)
- BDA1
- Exact Synonym (Disease Ontology)
- Farabee type brachydactyly
- OrphaNumber from OrphaNet (Orphanet)
- 93388