MCID: MCR041

Macrothrombocytopenia Progressive Deafness malady

Rare diseases, Ear diseases, Blood diseases categories

Aliases & Classifications for Macrothrombocytopenia Progressive Deafness

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Aliases & Descriptions for Macrothrombocytopenia Progressive Deafness:

Name: Macrothrombocytopenia Progressive Deafness 42
Macrothrombocytopenia and Progressive Sensorineural Deafness 61
 
Brodie Chole Griffin Syndrome 42


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, 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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Drug clinical trials:

Search ClinicalTrials for Macrothrombocytopenia Progressive Deafness

Search 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_002473.4(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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet