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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;   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
 broad_synonym: MYH9-RELATED CONDITION
 primary_id: MESH:C535507;   MESH:C537831
 alt_id: OMIA:001608;   OMIM:155100
 xref: EFO:0009646;   NCI:C158788;   ORDO:182050


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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
ISS		 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: Sebastian platelet syndrome
OMIM:155100
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.R702C(mouse)
DNA:missense mutations:exons:multiple
DNA:mutation:exon:p.E1841K(human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... RGD:6902926, RGD:11533924, RGD:6903235, RGD:11532766 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063 		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 CTD Direct Evidence: marker/mechanism
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: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration | ClinVar Annotator: match by term: MYH9-related condition		 OMIM
CTD
ClinVar		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      Hearing Disorders 820
        Hearing Loss 815
          sensorineural hearing loss 625
            MYH-9 related disease 2
              autosomal dominant nonsyndromic deafness 17 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            Otorhinolaryngologic Diseases 1735
              auditory system disease 992
                Hearing Disorders 820
                  Hearing Loss 815
                    sensorineural hearing loss 625
                      MYH-9 related disease 2
                        autosomal dominant nonsyndromic deafness 17 1
paths to the root