Osteogenesis imperfecta, type XXI

Preferred Label : Osteogenesis imperfecta, type XXI;

Symbol : OI21;

Type : Phenotype, molecular basis known;

Prefixed ID : #619131;

Details

Origin ID

619131;

UMLS CUI

C5436875;

Currated CISMeF NLP mapping
- osteogenesis imperfecta type 21 [DO Concept]
Genes related to phenotype
- Kdel endoplasmic reticulum protein retention receptor 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Bell-shaped thorax [HPO term]
- Bowing of the arm [HPO term]
- Bowing of the legs [HPO term]
- Childhood onset [HPO term]
- Coxa valga [HPO term]
- Coxa vara [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Fetal onset [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Joint hypermobility [HPO term]
- Motor delay [HPO term]
- Osteoporosis [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Pes valgus [HPO term]
- Platyspondyly [HPO term]
- Recurrent fractures [HPO term]
- Scoliosis [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Osteogenesis imperfecta [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients