MCID: PRG091
MIFTS: 13

Progressively Deforming Osteogenesis Imperfecta malady

Categories: Genetic diseases (common), Bone diseases

Aliases & Classifications for Progressively Deforming Osteogenesis Imperfecta

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Aliases & Descriptions for Progressively Deforming Osteogenesis Imperfecta:

Name: Progressively Deforming Osteogenesis Imperfecta 23
Osteogenesis Imperfecta Type Iii 23 66
 
Progressively Deforming Oi 23
Oi Type Iii 23

Classifications:



Summaries for Progressively Deforming Osteogenesis Imperfecta

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MalaCards based summary: Progressively Deforming Osteogenesis Imperfecta, also known as osteogenesis imperfecta type iii, is related to osteogenesis imperfecta, type iii and osteogenesis imperfecta. An important gene associated with Progressively Deforming Osteogenesis Imperfecta is COL1A2 (Collagen Type I Alpha 2 Chain).

Related Diseases for Progressively Deforming Osteogenesis Imperfecta

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Diseases related to Progressively Deforming Osteogenesis Imperfecta via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type iii31.4COL1A2, SERPINF1
2osteogenesis imperfecta10.3
3prokr2-related isolated gonadotropin-releasing hormone deficiency9.6COL1A2, SERPINF1
4osteogenesis imperfecta, type ii9.5COL1A2, SERPINF1
5fetishism9.5COL1A2, SERPINF1
6carnitine palmitoyltransferase ii deficiency9.2COL1A2, SERPINF1

Graphical network of diseases related to Progressively Deforming Osteogenesis Imperfecta:



Diseases related to progressively deforming osteogenesis imperfecta

Symptoms for Progressively Deforming Osteogenesis Imperfecta

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Drugs & Therapeutics for Progressively Deforming Osteogenesis Imperfecta

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Progressively Deforming Osteogenesis Imperfecta

Genetic Tests for Progressively Deforming Osteogenesis Imperfecta

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Genetic tests related to Progressively Deforming Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Progressively Deforming Osteogenesis Imperfecta23 COL1A2

Anatomical Context for Progressively Deforming Osteogenesis Imperfecta

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Animal Models for Progressively Deforming Osteogenesis Imperfecta or affiliated genes

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Publications for Progressively Deforming Osteogenesis Imperfecta

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Articles related to Progressively Deforming Osteogenesis Imperfecta:

idTitleAuthorsYear
1
Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen. (22113968)
2012
2
Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: a case of autosomal dominant transmission. (1788177)
1991
3
Genetic counselling in perinatally lethal and severe progressively deforming osteogenesis imperfecta. (3214049)
1988

Variations for Progressively Deforming Osteogenesis Imperfecta

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Expression for genes affiliated with Progressively Deforming Osteogenesis Imperfecta

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Search GEO for disease gene expression data for Progressively Deforming Osteogenesis Imperfecta.

Pathways for genes affiliated with Progressively Deforming Osteogenesis Imperfecta

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GO Terms for genes affiliated with Progressively Deforming Osteogenesis Imperfecta

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Cellular components related to Progressively Deforming Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:00310129.1COL1A2, SERPINF1
2extracellular spaceGO:00056159.1COL1A2, SERPINF1

Sources for Progressively Deforming Osteogenesis Imperfecta

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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