Osteogenesis Imperfecta, type I

Preferred Label : Osteogenesis Imperfecta, type I;

Symbol : OI1;

CISMeF acronym : OI1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oi, type I; Osteogenesis imperfecta with blue sclerae; Osteogenesis imperfecta tarda;

Description : Osteogenesis imperfecta type I is a dominantly inherited, generalized connective tissue disorder characterized mainly by bone fragility and blue sclerae. In most cases, 'functional null' alleles of COL1A1 on chromosome 17 or COL1A2 on chromosome 7 lead to reduced amounts of normal collagen I.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen I, alpha-1 polypeptide gene (COL1A1, 120150.0024);

Prefixed ID : #166200;

Details

Origin ID

166200;

UMLS CUI

C0023931;

Broader ORDO disease(s)
- Osteogenesis imperfecta [ORDO Disease]
Currated CISMeF NLP mapping
- Osteogenesis Imperfecta Type I [NCIt concept]
- Osteogenesis imperfecta type 1 [ICD-11 More detail]
- Osteogenesis imperfecta type 1 [ORDO Disease]
- Osteogenesis imperfecta type I (disorder) [SNOMED CT concept]
- osteogenesis imperfecta [MeSH concept]
- osteogenesis imperfecta type 1 [DO Concept]
- osteogenesis imperfecta with blue sclerae [SNOMED Notion]
- van der Hoeve syndrome [Disease (Nov.)]
DO Cross reference
- osteogenesis imperfecta type 1 [DO Concept]
Genes related to phenotype
- Collagen, type I, alpha-1 [OMIM gene]
HPO term(s)
- Aortic aneurysm [HPO term]
- Autosomal dominant inheritance [HPO term]
- Biconcave flattened vertebrae [HPO term]
- Blue sclerae [HPO term]
- Bruising susceptibility [HPO term]
- Dentinogenesis imperfecta [HPO term]
- Femoral bowing [HPO term]
- Growth abnormality [HPO term]
- Hearing impairment [HPO term]
- Increased susceptibility to fractures [HPO term]
- Joint hypermobility [HPO term]
- Mild joint hypermobility [HPO term]
- Mild osteopenia [HPO term]
- Mitral valve prolapse [HPO term]
- Osteopenia [HPO term]
- Otosclerosis [HPO term]
- Recurrent fractures [HPO term]
- Thin skin [HPO term]
- Wormian bones [HPO term]
- occasional femoral bowing [HPO term]
ORDO concept(s)
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta type 1 [ORDO Disease]
See also inter- (CISMeF)
- COL1A1 wt Allele [NCIt concept]
- lobstein's disease [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteogenesis Imperfecta Type I [NCIt concept]
- Osteogenesis imperfecta type I (disorder) [SNOMED CT concept]
- lobstein's disease [MeSH concept]
- osteogenesis imperfecta type 1 [DO Concept]
- osteogenesis imperfecta with blue sclerae [SNOMED Notion]
- van der Hoeve syndrome [Disease (Nov.)]
Validated automatic mappings to NTBT
- Osteogenesis imperfecta [ORDO Disease]
- osteogenesis imperfecta [Disease (Nov.)]
- osteogenesis imperfecta [MeSH concept]
- osteogenesis imperfecta [MeSH Descriptor]

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