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 45
Macrothrombocytopenia and Progressive Sensorineural Deafness 65
 
Brodie Chole Griffin Syndrome 45

Classifications:



External Ids:

UMLS65 C1834478

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, Non-Muscle).

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet