MCID: HGH023
MIFTS: 24
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High Bone Mass Osteogenesis Imperfecta
Categories:
Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for High Bone Mass Osteogenesis Imperfecta:
Name: High Bone Mass Osteogenesis Imperfecta
55
Characteristics:Orphanet epidemiological data:55
high bone mass osteogenesis imperfecta
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Classifications:
ICD10:
33
External Ids:
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MalaCards based summary
:
High Bone Mass Osteogenesis Imperfecta, also known as high bone mass oi, is related to brittle bone disorder and ehlers-danlos/osteogenesis imperfecta syndrome. An important gene associated with High Bone Mass Osteogenesis Imperfecta is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Collagen chain trimerization. Affiliated tissues include bone.
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MalaCards organs/tissues related to High Bone Mass Osteogenesis Imperfecta:38
Bone
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Articles related to High Bone Mass Osteogenesis Imperfecta:
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Search
GEO
for disease gene expression data for High Bone Mass Osteogenesis Imperfecta.
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Pathways related to High Bone Mass Osteogenesis Imperfecta according to GeneCards Suite gene sharing:(show all 20)
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Cellular components related to High Bone Mass Osteogenesis Imperfecta according to GeneCards Suite gene sharing:
Biological processes related to High Bone Mass Osteogenesis Imperfecta according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to High Bone Mass Osteogenesis Imperfecta according to GeneCards Suite gene sharing:
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