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ONTOLOGY REPORT - ANNOTATIONS


Term:MYH-9 related disease
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Accession:DOID:0060651 term browser browse the term
Definition: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;   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
 primary_id: MESH:C535507;   MESH:C537831
 alt_id: OMIA:001608;   OMIM:155100;   RDO:0000650;   RDO:0003736
 xref: ORDO:182050
For additional species annotation, visit the Alliance of Genome Resources.


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MYH-9 related disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:6902926
RGD:8554872
RGD:11554173
RGD:11533924
RGD:7240710
RGD:6903235
RGD:11532766
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      hematopoietic system disease 1426
        hemorrhagic disease 430
          blood platelet disease 191
            MYH-9 related disease 1
              autosomal dominant nonsyndromic deafness 17 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        sensory system disease 4659
          Otorhinolaryngologic Diseases 1076
            auditory system disease 685
              Hearing Disorders 570
                Hearing Loss 566
                  sensorineural hearing loss 458
                    MYH-9 related disease 1
                      autosomal dominant nonsyndromic deafness 17 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.