MCID: MCR041

Macrothrombocytopenia Progressive Deafness malady

Categories: Rare diseases, Ear diseases, Blood diseases

Aliases & Classifications for Macrothrombocytopenia Progressive Deafness

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Aliases & Descriptions for Macrothrombocytopenia Progressive Deafness:

Name: Macrothrombocytopenia Progressive Deafness 46
Macrothrombocytopenia and Progressive Sensorineural Deafness 66
 
Brodie Chole Griffin Syndrome 46

Classifications:



Summaries for Macrothrombocytopenia Progressive Deafness

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MalaCards based summary: Macrothrombocytopenia Progressive Deafness, is also known as macrothrombocytopenia and progressive sensorineural deafness An important gene associated with Macrothrombocytopenia Progressive Deafness is MYH9 (Myosin Heavy Chain 9).

Related Diseases for Macrothrombocytopenia Progressive Deafness

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Symptoms for Macrothrombocytopenia Progressive Deafness

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Drugs & Therapeutics for Macrothrombocytopenia Progressive Deafness

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Macrothrombocytopenia Progressive Deafness

Genetic Tests for Macrothrombocytopenia Progressive Deafness

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Anatomical Context for Macrothrombocytopenia Progressive Deafness

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Animal Models for Macrothrombocytopenia Progressive Deafness or affiliated genes

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Publications for Macrothrombocytopenia Progressive Deafness

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Variations for Macrothrombocytopenia Progressive Deafness

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Clinvar genetic disease variations for Macrothrombocytopenia Progressive Deafness:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYH9NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106

Expression for genes affiliated with Macrothrombocytopenia Progressive Deafness

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Search GEO for disease gene expression data for Macrothrombocytopenia Progressive Deafness.

Pathways for genes affiliated with Macrothrombocytopenia Progressive Deafness

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GO Terms for genes affiliated with Macrothrombocytopenia Progressive Deafness

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Sources for Macrothrombocytopenia Progressive Deafness

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet