Details of Disease

General Information of Disease (ID: DISHRP21)

Disease Name Osteogenesis imperfecta, type 18
Synonyms OI18; osteogenesis imperfecta, type XVIII
Definition
Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}).
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DISHRP21: Osteogenesis imperfecta, type 18
Disease Identifiers
MONDO ID
MONDO_0044329
UMLS CUI
C4693736
OMIM ID
617952
MedGen ID
1635201

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TENT5A OTSYF511 Strong Autosomal recessive [1]
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References

1 [Meal-time training of children with cerebral palsy]. Kango Gijutsu. 1977 Dec;23(16):55-66.