Osteogenesis imperfecta, type III

Preferred Label : Osteogenesis imperfecta, type III;

Symbol : OI3;

CISMeF acronym : OI3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oi, type III; Osteogenesis imperfecta, progressively deforming, with normal sclerae;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen I, alpha-2 polypeptide gene (COL1A2, 120160.0005); Caused by mutation in the collagen I, alpha-1 polypeptide gene (COL1A1, 120150.0005);

Prefixed ID : #259420;

Details

Origin ID

259420;

UMLS CUI

C0268362;

Broader ORDO disease(s)
- Osteogenesis imperfecta [ORDO Disease]
Currated CISMeF NLP mapping
- Osteogenesis Imperfecta Type III [NCIt concept]
- Osteogenesis imperfecta type 3 [ORDO Disease]
- Osteogenesis imperfecta type III (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta, type 3 [MeSH concept]
- osteogenesis imperfecta type 3 [DO Concept]
- osteogenesis imperfecta type III [Disease (Nov.)]
- osteogenesis imperfecta with progressive deformity and normal sclerae [SNOMED Notion]
- osteogenesis imperfecta, type 3 [MeSH Supplementary Concept]
DO Cross reference
- osteogenesis imperfecta type 3 [DO Concept]
Genes related to phenotype
- Collagen, type I, alpha-1 [OMIM gene]
- Collagen, type I, alpha-2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Basilar impression [HPO term]
- Biconcave vertebral bodies [HPO term]
- Blue sclerae [HPO term]
- Bowing of limbs due to multiple fractures [HPO term]
- Codfish vertebrae [HPO term]
- Decreased calvarial ossification [HPO term]
- Dentinogenesis imperfecta [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Frontal bossing [HPO term]
- Hearing impairment [HPO term]
- Kyphosis [HPO term]
- Micrognathia [HPO term]
- Multiple prenatal fractures [HPO term]
- Neonatal short-limb short stature [HPO term]
- Platybasia [HPO term]
- Protrusio acetabuli [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Recurrent fractures [HPO term]
- Scoliosis [HPO term]
- Severe generalized osteoporosis [HPO term]
- Short limb dwarfism [HPO term]
- Short-limb dwarfism identifiable at birth [HPO term]
- Slender long bone [HPO term]
- Thin ribs [HPO term]
- Thin, gracile long bones [HPO term]
- Tibial bowing [HPO term]
- Triangular face [HPO term]
- Wide anterior fontanel [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta type 3 [ORDO Disease]
See also inter- (CISMeF)
- COL1A1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteogenesis Imperfecta Type III [NCIt concept]
- Osteogenesis imperfecta type 3 [ORDO Disease]
- Osteogenesis imperfecta type III (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta, type 3 [MeSH concept]
- osteogenesis imperfecta type 3 [DO Concept]
- osteogenesis imperfecta type III [Disease (Nov.)]
- osteogenesis imperfecta with progressive deformity and normal sclerae [SNOMED Notion]
- osteogenesis imperfecta, type 3 [MeSH Supplementary Concept]

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