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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.

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;   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;   Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss;   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
 xref: NCI:C158788;   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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO DNA:missense mutation:exon:p.R702H(human)
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: Epstein syndrome
ClinVar Annotator: match by term: Sebastian syndrome
ClinVar Annotator: match by term: May-Hegglin anomaly
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MYH9 related disorders
ClinVar Annotator: match by OMIM:153640
ClinVar Annotator: match by OMIM:155100
DNA:mutation:cds:p.R702C(mouse)
DNA:missense mutations:exons:multiple
DNA:mutation:exon:p.E1841K(human)
ClinVar
CTD
OMIM
PMID:1449176, PMID:5011389, PMID:8280620, PMID:9390828, PMID:10603121, PMID:10739770, PMID:10973259, PMID:10973260, PMID:11023810, PMID:11093280, PMID:11159552, PMID:11590545, PMID:11752022, PMID:11935325, PMID:12533692, PMID:12621333, PMID:12649151, PMID:12792306, PMID:15613099, PMID:15667538, PMID:16969870, PMID:17146397, PMID:18059020, PMID:18676005, PMID:19450438, PMID:19557653, PMID:20588287, PMID:22123909, PMID:22477015, PMID:22995991, PMID:23144074, PMID:23349334, PMID:23409987, PMID:23804846, PMID:24033266, PMID:24130771, PMID:24186861, PMID:24643058, PMID:24875298, PMID:24890873, PMID:25077172, PMID:25505834, PMID:25741868, PMID:25752595, PMID:25949529, PMID:26226608, PMID:26346198, PMID:26467025, PMID:26969326, PMID:27068579, PMID:28059092, PMID:28492532, PMID:29090586, PMID:30311386, PMID:30720677, PMID:31064749, PMID:11935325, PMID:23976996, PMID:11752022, PMID:16806139 RGD:6902926, RGD:11533924, RGD:6903235, RGD:11532766 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 17
ClinVar Annotator: match by term: Deafness, autosomal dominant 17
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17
OMIM
ClinVar
PMID:9390828, PMID:11023810, PMID:11590545, PMID:11752022, PMID:12533692, PMID:16969870, PMID:17146397, PMID:18059020, PMID:18676005, PMID:19557653, PMID:20588287, PMID:22123909, PMID:22477015, PMID:22995991, PMID:23144074, PMID:23349334, PMID:23409987, PMID:23804846, PMID:24033266, PMID:24130771, PMID:24186861, PMID:24643058, PMID:24890873, PMID:25077172, PMID:25505834, PMID:25741868, PMID:25752595, PMID:25949529, PMID:26226608, PMID:26346198, PMID:26467025, PMID:26969326, PMID:27068579, PMID:28059092, PMID:28492532, PMID:29090586, PMID:30311386, PMID:30720677, PMID:31064749 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      hematopoietic system disease 1645
        hemorrhagic disease 611
          blood platelet disease 292
            MYH-9 related disease 1
              autosomal dominant nonsyndromic deafness 17 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  sensorineural hearing loss 489
                    MYH-9 related disease 1
                      autosomal dominant nonsyndromic deafness 17 1
paths to the root

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