MCID: OST036
MIFTS: 15

Osteogenesis Imperfecta Type 2a malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases categories
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Summaries for Osteogenesis Imperfecta Type 2a

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33MalaCards
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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:
62UMLS, 43NIH Rare Diseases
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Classifications:



Aliases & Descriptions:

osteogenesis imperfecta type 2a 43
osteogenesis imperfecta congenita perinatal lethal form 43
osteogenesis imperfecta, recessive perinatal lethal 62
vrolik type of osteogenesis imperfecta 43
osteogenesis imperfecta congenita 43
osteogenesis imperfecta 62
oi type iia 43
oi type 2a 43
oi2a 43


Related Diseases for Osteogenesis Imperfecta Type 2a

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Sources:
17GeneCards, 18GeneDecks
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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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta Type 2a

Search NIH Clinical Center for Osteogenesis Imperfecta Type 2a

Inferred drug relations via UMLS62/NDF-RT41:

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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15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet