Quebec platelet disorder
Information
- Disease name
- Quebec platelet disorder
- Disease ID
- DOID:0111050
- Description
- "A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18988861, url:https\://www.ncbi.nlm.nih.gov/pubmed/20007542]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2218
- Cross Reference ID (Disease Ontology)
- GARD:8345
- Cross Reference ID (Disease Ontology)
- MESH:C536260
- Cross Reference ID (Disease Ontology)
- MIM:601709
- Cross Reference ID (Disease Ontology)
- ORDO:220436
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1866423
- Exact Synonym (Disease Ontology)
- BDPLT5
- Exact Synonym (Disease Ontology)
- factor V Quebec
- Exact Synonym (Disease Ontology)
- platelet-type bleeding disorder 5
- OrphaNumber from OrphaNet (Orphanet)
- 220436
- MedGen concept unique identifier (MedGen Concept name)
- C1866423
- MedGen unique identifier (MedGen Concept name)
- 356528