Osteogenesis imperfecta, type ix

Preferred Label : Osteogenesis imperfecta, type ix;

Symbol : OI9;

CISMeF acronym : OI9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oi, type ix;

Description : Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the peptidyl-prolyl isomerase B gene (PPIB, 123841.0001);

Prefixed ID : #259440;

Details

Origin ID

259440;

UMLS CUI

C1850169;

Automatic exact mappings (from CISMeF team)
- osteogenesis imperfecta type 9 [DO Concept]
- peptidylprolyl isomerase B [ORDO Gene]
- peptidylprolyl isomerase B [HGNC gene]
Broader ORDO disease(s)
- Osteogenesis imperfecta [ORDO Disease]
Currated CISMeF NLP mapping
- osteogenesis imperfecta, type IX [MeSH concept]
- osteogenesis imperfecta, type IX [MeSH Supplementary Concept]
DO Cross reference
- osteogenesis imperfecta type 9 [DO Concept]
Genes related to phenotype
- Peptidyl-prolyl isomerase b [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Beaded ribs [HPO term]
- Blue sclerae [HPO term]
- Bowing of limbs due to multiple fractures [HPO term]
- Decreased calvarial ossification [HPO term]
- Dentinogenesis imperfecta [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Genu varus [HPO term]
- Kyphosis [HPO term]
- Multiple prenatal fractures [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Platyspondyly [HPO term]
- Recurrent fractures [HPO term]
- Scoliosis [HPO term]
- Short limb dwarfism [HPO term]
- Short lower limbs [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta type 2 [ORDO Disease]
- Osteogenesis imperfecta type 3 [ORDO Disease]
- Osteogenesis imperfecta type 4 [ORDO Disease]
See also inter- (CISMeF)
- Osteogenesis imperfecta type 2 [ORDO Disease]
- PPIB wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- osteogenesis imperfecta, type IX [MeSH Supplementary Concept]
- osteogenesis imperfecta, type IX [MeSH concept]

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