Osteogenesis imperfecta, type VII

Preferred Label : Osteogenesis imperfecta, type VII;

Symbol : OI7;

CISMeF acronym : OI2B; OI7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : OI2B; Oi, type VII; Osteogenesis imperfecta, type iib;

Description : Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cartilage-associated protein gene (CRTAP, 605497.0001);

Prefixed ID : #610682;

Details

Origin ID

610682;

UMLS CUI

C1853162;

Broader ORDO disease(s)
- Osteogenesis imperfecta [ORDO Disease]
Currated CISMeF NLP mapping
- osteogenesis imperfecta type 7 [DO Concept]
- osteogenesis imperfecta type VII [MeSH concept]
- osteogenesis imperfecta type VII [MeSH Supplementary Concept]
DO Cross reference
- osteogenesis imperfecta type 7 [DO Concept]
Genes related to phenotype
- Cartilage-associated protein [OMIM gene]
HPO term(s)
- Absent pulmonary artery [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Bowing of the legs [HPO term]
- Breech presentation [HPO term]
- Coxa vara [HPO term]
- Crumpled long bones [HPO term]
- Death in infancy [HPO term]
- Decreased calvarial ossification [HPO term]
- Delayed cranial suture closure [HPO term]
- Externally rotated/abducted legs [HPO term]
- Hydronephrosis [HPO term]
- Hypoplastic pulmonary veins [HPO term]
- Long philtrum [HPO term]
- Micromelia [HPO term]
- Multiple prenatal fractures [HPO term]
- Multiple rib fractures [HPO term]
- Narrow chest [HPO term]
- Osteopenia [HPO term]
- Pectus excavatum [HPO term]
- Proptosis [HPO term]
- Protrusio acetabuli [HPO term]
- Recurrent fractures [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Round face [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Vertebral compression fracture [HPO term]
- Wide anterior fontanel [HPO term]
- Wide cranial sutures [HPO term]
- Wormian bones [HPO term]
Not associated HPO term(s)
- Dentinogenesis imperfecta [HPO term]
- Hearing abnormality [HPO term]
- Intellectual disability [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]
- Osteogenesis imperfecta type 3 [ORDO Disease]
- Osteogenesis imperfecta type 4 [ORDO Disease]
- Osteogenesis imperfecta type IIB (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta, type 2B [MeSH concept]
- osteogenesis imperfecta type IIB [Disease (Nov.)]
- osteogenesis imperfecta, type 2B [MeSH Supplementary Concept]
- osteogenesis imperfecta, type VIII [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- osteogenesis imperfecta type VII [MeSH Supplementary Concept]
- osteogenesis imperfecta type VII [MeSH concept]
Validated automatic mappings to NTBT
- Osteogenesis imperfecta [ORDO Disease]

Keyword's position in hierarchy(ies) :

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