MCID: MCR041

Macrothrombocytopenia Progressive Deafness malady

Ear, Blood categories

Summaries for Macrothrombocytopenia Progressive Deafness

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33MalaCards
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MalaCards: Macrothrombocytopenia Progressive Deafness, is also known as brodie chole griffin syndrome An important gene associated with Macrothrombocytopenia Progressive Deafness is MYH9 (myosin, heavy chain 9, non-muscle).

Aliases & Classifications for Macrothrombocytopenia Progressive Deafness

Sources:
43NIH Rare Diseases, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear, Blood


Aliases & Descriptions:

macrothrombocytopenia progressive deafness 43 61
brodie chole griffin syndrome 43


Related Diseases for Macrothrombocytopenia Progressive Deafness

Clinical Features for Macrothrombocytopenia Progressive Deafness

Drugs & Therapeutics for Macrothrombocytopenia Progressive Deafness

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Macrothrombocytopenia Progressive Deafness

Anatomical Context for Macrothrombocytopenia Progressive Deafness

Animal Models for Macrothrombocytopenia Progressive Deafness or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Macrothrombocytopenia Progressive Deafness

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51PubMed
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Articles related to Macrothrombocytopenia Progressive Deafness:

idTitleAuthorsYear
1
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. (12621333)
2003
2
Macrothrombocytopenia and progressive deafness: a new genetic syndrome. (1449176)
1992

Genetic Variations for Macrothrombocytopenia Progressive Deafness

Expression for genes affiliated with Macrothrombocytopenia Progressive Deafness

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Macrothrombocytopenia Progressive Deafness

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

Pathways for genes affiliated with Macrothrombocytopenia Progressive Deafness

Compounds for genes affiliated with Macrothrombocytopenia Progressive Deafness

GO Terms for genes affiliated with Macrothrombocytopenia Progressive Deafness

Products for genes affiliated with Macrothrombocytopenia Progressive Deafness

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Macrothrombocytopenia Progressive Deafness

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet