gray platelet syndrome
Information
- Disease name
- gray platelet syndrome
- Disease ID
- DOID:0111044
- Description
- "A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17768118, url:https\://www.ncbi.nlm.nih.gov/pubmed/21765411, url:https\://www.ncbi.nlm.nih.gov/pubmed/21765412, url:https\://www.ncbi.nlm.nih.gov/pubmed/21765413]
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:2562
- Cross Reference ID (Disease Ontology)
- ICD10CM:D69.1
- Cross Reference ID (Disease Ontology)
- MESH:D055652
- Cross Reference ID (Disease Ontology)
- MIM:139090
- Cross Reference ID (Disease Ontology)
- NCI:C84741
- Cross Reference ID (Disease Ontology)
- ORDO:721
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:51720005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0272302
- Exact Synonym (Disease Ontology)
- BDPLT4
- Exact Synonym (Disease Ontology)
- GPS
- Exact Synonym (Disease Ontology)
- platelet alpha-granule deficiency
- Exact Synonym (Disease Ontology)
- platelet-type bleeding disorder 4
- OrphaNumber from OrphaNet (Orphanet)
- 721
- MeSH unique ID (MeSH (Medical Subject Headings))
- D055652