RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract. (DO)
Synonyms:
exact_synonym:
APSM; Alport syndrome with leukocyte inclusions and macrothrombocytopenia; Alport syndrome with macrothrombocytopenia; BDPLT6; Brodie Chole Griffin syndrome; Dohle leukocyte inclusions with giant platelets; EPSTNS; Epstein syndrome; FTNS; Fechtner syndrome; Fechtner's syndrome; MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS; MHA; MYH9 gene-related autosomal macrothrombocytopenias; MYH9-related disorder; MYH9-related disorders; MYH9-related macrothrombocytopenias; MYH9RD; Macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions; Macrothrombocytopenia and Progressive Sensorineural Deafness; May-Hegglin anomaly; SBS; Sebastian platelet syndrome; Sebastian syndrome; autosomal dominant MYH9 spectrum disorders; bleeding disorder, platelet-type, 6; macrothrombocytopathy, nephritis, and deafness; macrothrombocytopenia with dispersed leukocytic inclusions; macrothrombocytopenia with leukocyte inclusions; macrothrombocytopenia, nephritis, and deafness; macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions; macrothrombocytopenia, progressive deafness
ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
DNA:missense mutation:exon:p.R702H(human) ClinVar Annotator: match by term: MYH9-related disorder ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100 ClinVar Annotator: match by term: Sebastian platelet syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutations:exons:multiple DNA:mutation:exon:p.E1841K(human) protein:increased expression:neutrophil: DNA:mutation:cds:p.R702C(mouse)
ClinVar Annotator: match by term: Deafness, autosomal dominant 17 ClinVar Annotator: match by term: MYH9-related condition ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: MYH9-related condition ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: MYH9-related condition
ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: MYH9-related condition ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration | ClinVar Annotator: match by term: MYH9-related condition ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: MYH9-related condition ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: MYH9-related condition CTD Direct Evidence: marker/mechanism
browse the term
