MCID: OST036
MIFTS: 15

Osteogenesis Imperfecta Type 2a malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases categories

Summaries for Osteogenesis Imperfecta Type 2a

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Sources:
34MalaCards
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MalaCards: Osteogenesis Imperfecta Type 2a, also known as osteogenesis imperfecta congenita perinatal lethal form, is related to osteogenesis imperfecta congenita microcephaly and cataracts. The drugs calcitonin and salmon calcitonin have been mentioned in the context of this disorder.

Aliases & Classifications for Osteogenesis Imperfecta Type 2a

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Sources:
63UMLS, 44NIH Rare Diseases
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Classifications:



Aliases & Descriptions:

osteogenesis imperfecta type 2a 44
osteogenesis imperfecta congenita perinatal lethal form 44
osteogenesis imperfecta, recessive perinatal lethal 63
vrolik type of osteogenesis imperfecta 44
osteogenesis imperfecta congenita 44
osteogenesis imperfecta 63
oi type iia 44
oi type 2a 44
oi2a 44


Related Diseases for Osteogenesis Imperfecta Type 2a

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Sources:
18GeneCards, 19GeneDecks
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Symptoms for Osteogenesis Imperfecta Type 2a

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Drugs & Therapeutics for Osteogenesis Imperfecta Type 2a

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Osteogenesis Imperfecta Type 2a

Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta Type 2a

Search NIH Clinical Center for Osteogenesis Imperfecta Type 2a

Search CenterWatch for Osteogenesis Imperfecta Type 2a

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Osteogenesis Imperfecta Type 2a

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Anatomical Context for Osteogenesis Imperfecta Type 2a

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Animal Models for Osteogenesis Imperfecta Type 2a or affiliated genes

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Publications for Osteogenesis Imperfecta Type 2a

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Variations for Osteogenesis Imperfecta Type 2a

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Osteogenesis Imperfecta Type 2a:

1
id Gene Name Type Significance SNP ID Assembly Location
1COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524

Expression for genes affiliated with Osteogenesis Imperfecta Type 2a

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Sources:
16Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Osteogenesis Imperfecta Type 2a.

Pathways for genes affiliated with Osteogenesis Imperfecta Type 2a

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Compounds for genes affiliated with Osteogenesis Imperfecta Type 2a

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GO Terms for genes affiliated with Osteogenesis Imperfecta Type 2a

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Products for genes affiliated with Osteogenesis Imperfecta Type 2a

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Osteogenesis Imperfecta Type 2a

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet