MCID: PRN052
MIFTS: 15

Perinatally Lethal Osteogenesis Imperfecta malady

Categories: Genetic diseases (common), Bone diseases

Aliases & Classifications for Perinatally Lethal Osteogenesis Imperfecta

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Aliases & Descriptions for Perinatally Lethal Osteogenesis Imperfecta:

Name: Perinatally Lethal Osteogenesis Imperfecta 22
Osteogenesis Imperfecta, Dominant Perinatal Lethal 65
Osteogenesis Imperfecta Type Iia 22
 
Perinatally Lethal Oi 22
Oi Type Iia 22
Oi Type Ii 22

Classifications:



External Ids:

UMLS65 C0268358

Summaries for Perinatally Lethal Osteogenesis Imperfecta

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MalaCards based summary: Perinatally Lethal Osteogenesis Imperfecta, also known as osteogenesis imperfecta, dominant perinatal lethal, is related to osteogenesis imperfecta, type ii and osteogenesis imperfecta, type viii. An important gene associated with Perinatally Lethal Osteogenesis Imperfecta is COL1A2 (Collagen Type I Alpha 2). Affiliated tissues include smooth muscle and bone.

Related Diseases for Perinatally Lethal Osteogenesis Imperfecta

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

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type ii11.5
2osteogenesis imperfecta, type viii10.4
3osteogenesis imperfecta, type iv10.4
4osteogenesis imperfecta, type xiii10.4
5osteogenesis imperfecta, type xiv10.4
6osteogenesis imperfecta, type v10.4
7osteogenesis imperfecta, type xv10.4
8malaria10.3
9adult t-cell leukemia10.3
10leukemia10.3
11lymphoma10.3
12apraxia10.3
13astigmatism10.3
14irregular astigmatism10.3
15root resorption10.3
16retinitis10.3
17t-cell leukemia10.3
18developmental disabilities10.3
19cytomegalovirus retinitis10.3
20mycetoma10.3

Graphical network of diseases related to Perinatally Lethal Osteogenesis Imperfecta:



Diseases related to perinatally lethal osteogenesis imperfecta

Symptoms for Perinatally Lethal Osteogenesis Imperfecta

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Drugs & Therapeutics for Perinatally Lethal Osteogenesis Imperfecta

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Perinatally Lethal Osteogenesis Imperfecta

Genetic Tests for Perinatally Lethal Osteogenesis Imperfecta

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Genetic tests related to Perinatally Lethal Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Perinatally Lethal Osteogenesis Imperfecta22 COL1A2

Anatomical Context for Perinatally Lethal Osteogenesis Imperfecta

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MalaCards organs/tissues related to Perinatally Lethal Osteogenesis Imperfecta:

33
Smooth muscle, Bone

Animal Models for Perinatally Lethal Osteogenesis Imperfecta or affiliated genes

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Publications for Perinatally Lethal Osteogenesis Imperfecta

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Articles related to Perinatally Lethal Osteogenesis Imperfecta:

idTitleAuthorsYear
1
Calcium-activated chloride channels anoctamin 1 and 2 promote murine uterine smooth muscle contractility. (24928056)
2014
2
Systemic therapy for metastatic non-clear-cell renal cell carcinoma: recent progress and future directions. (21763971)
2011
3
MEFV E148Q polymorphism is associated with Henoch-SchAPnlein purpura in Chinese children. (20602240)
2010
4
Evolution and selection of human leukocyte antigen alleles by Plasmodium falciparum infection. (18824049)
2008
5
Fasciola hepatica infestation as a very rare cause of extrahepatic cholestasis. (15378799)
2004
6
The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view. (15481897)
2004
7
109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands. (12899878)
2003
8
Potential mechanisms for failure to eradicate group A streptococci from the pharynx. (10506234)
1999
9
Alteration of the aminophospholipid translocase activity during in vivo and artificial aging of human erythrocytes. (2168752)
1990
10
CLINICO-PATHOLOGICAL conference; tuberculous epididymitis. (15424086)
1950

Variations for Perinatally Lethal Osteogenesis Imperfecta

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Expression for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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Search GEO for disease gene expression data for Perinatally Lethal Osteogenesis Imperfecta.

Pathways for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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GO Terms for genes affiliated with Perinatally Lethal Osteogenesis Imperfecta

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Sources for Perinatally Lethal Osteogenesis Imperfecta

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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