Osteogenesis imperfecta, type XX

Preferred Label : Osteogenesis imperfecta, type XX;

Symbol : OI20;

CISMeF acronym : OI20;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mesoderm development LRP chaperone gene (MESD, 607783.0001);

Prefixed ID : #618644;

Details

Origin ID

618644;

UMLS CUI

C5231439;

Currated CISMeF NLP mapping
- osteogenesis imperfecta type 20 [DO Concept]
DO Cross reference
- osteogenesis imperfecta type 20 [DO Concept]
Genes related to phenotype
- Mesoderm development lrp chaperone [OMIM gene]
HPO term(s)
- Agenesis of permanent teeth [HPO term]
- Asymmetry of the thorax [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Brachycephaly [HPO term]
- Bulbous nose [HPO term]
- Crumpled ear [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Intrauterine growth retardation [HPO term]
- Kyphoscoliosis [HPO term]
- Low-set ears [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Multiple prenatal fractures [HPO term]
- Narrow chest [HPO term]
- Narrow palate [HPO term]
- Plagiocephaly [HPO term]
- Pointed chin [HPO term]
- Posteriorly rotated ears [HPO term]
- Retrognathia [HPO term]
- Sparse hair [HPO term]
- Sparse lateral eyebrow [HPO term]
- Tented upper lip vermilion [HPO term]
- Vertebral compression fracture [HPO term]
- Wormian bones [HPO term]
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