MCID: CLS035

Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae malady

Categories: Genetic diseases (common), Bone diseases

Aliases & Classifications for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Aliases & Descriptions for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae:

Name: Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae 23
Classic Non-Deforming Oi with Blue Sclerae 23
Osteogenesis Imperfecta Type I 23
 
Lobstein's Disease 66
Oi Type I 23

Classifications:



Summaries for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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MalaCards based summary: Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae, also known as classic non-deforming oi with blue sclerae, is related to osteogenesis imperfecta, type i and osteogenesis imperfecta, and has symptoms including scleral discoloration An important gene associated with Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae is COL1A2 (Collagen Type I Alpha 2 Chain).

Related Diseases for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Diseases related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type i12.6
2osteogenesis imperfecta10.8
3vaginitis10.0
4kidney disease10.0
5polycystic kidney disease10.0

Graphical network of diseases related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae:



Diseases related to classic non-deforming osteogenesis imperfecta with blue sclerae

Symptoms for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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UMLS symptoms related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae:


scleral discoloration

Drugs & Therapeutics for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

Genetic Tests for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Genetic tests related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae:

id Genetic test Affiliating Genes
1 Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae23 COL1A2

Anatomical Context for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Animal Models for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae or affiliated genes

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Publications for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Variations for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Expression for genes affiliated with Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Search GEO for disease gene expression data for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae.

Pathways for genes affiliated with Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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GO Terms for genes affiliated with Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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Sources for Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet