MYH-9 related disease - Ontology Report

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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	go back to main search page
Accession:	DOID:0060651	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

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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:27610647 PMID:28059092 PMID:28492532 PMID:29090586 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

autosomal dominant nonsyndromic deafness 17