MCID: CLS035
MIFTS: 12

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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Sources:
22GeneTests, 47Novoseek, 65UMLS
See all MalaCards sources

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

Name: Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae 22
Classic Non-Deforming Oi with Blue Sclerae 22
Osteogenesis Imperfecta Type I 22
 
Lobstein's Disease 65
Oi, Type I 47
Oi Type I 22

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). Affiliated tissues include bone.

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 Sclerae22 COL1A2

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

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MalaCards organs/tissues related to Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae:

33
Bone

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
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