Summaries for Brachyolmia

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22MalaCards
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MalaCards: Brachyolmia, also known as brachyrachia, is related to brachyolmia type 3 and brachyolmia type 1 hobaek type. An important gene associated with Brachyolmia is TRPV4 (transient receptor potential cation channel, subfamily V, member 4).

Aliases & Descriptions for Brachyolmia

Sources:
6Disease Ontology, 30NIH Rare Diseases, 8DISEASES, 43UMLS, 33OMIM
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Aliases & Descriptions:

brachyolmia 6 30 8 43
brachyrachia 6

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Related Diseases for Brachyolmia

Sources:
13GeneCards, 14GeneDecks
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Disease types for brachyolmia family:

brachyolmia type 3

Diseases related to brachyolmia by text searches and GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1brachyolmia type 38.2
2brachyolmia type 1 hobaek type7.8
3spondyloepiphyseal dysplasia maroteaux type7.5
4spondyloepiphyseal dysplasia tarda toledo type6.6

Clinical Features for Brachyolmia

Drugs & Therapeutics for Brachyolmia

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials
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Approved drugs:

Search CenterWatch for brachyolmia

Drug clinical trials:

Search ClinicalTrials for brachyolmia

Search NIH Clinical Center for brachyolmia

Search CenterWatch for brachyolmia

Genetic Tests for Brachyolmia

Anatomical Context for Brachyolmia

Phenotypes for genes affiliated with Brachyolmia

Publications for genes affiliated with Brachyolmia

Sources:
35PubMed
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Articles related to brachyolmia:

idTitleAuthorsYearAffiliating Genes
1Wild-type and brachyolmia-causing mutant TRPV4 channe ls respond directly to stretch force. (20605796)Loukin S.... Kung C.2010TRPV4
2Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. (18587396)Rock M.J.... Cohn D.H.2008TRPV4

Expression for genes affiliated with Brachyolmia

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Brachyolmia

Pathways for genes affiliated with Brachyolmia

Compounds for genes affiliated with Brachyolmia

GO Terms for genes affiliated with Brachyolmia

Sources for Brachyolmia

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS