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 47
Macrothrombocytopenia and Progressive Sensorineural Deafness 67
 
Brodie Chole Griffin Syndrome 47

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)SNVPathogenicrs80338831GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet