Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures

Preferred Label : Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant; ? same as OI type I (166200);

Prefixed ID : 166230;

Details

Origin ID

166230;

UMLS CUI

C1833748;

Automatic exact mappings (from CISMeF team)
- Osteogenesis imperfecta type 1 [ORDO Disease]
Broader ORDO disease(s)
- Osteogenesis imperfecta [ORDO Disease]
CISMeF manual mappings
- osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures [DO Concept]
- osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures [MeSH concept]
DO Cross reference
- osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures [DO Concept]
HPO term(s)
- Abnormal joint morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Autosomal dominant inheritance [HPO term]
- Biconcave flattened vertebrae [HPO term]
- Blue sclerae [HPO term]
- Mild flattening and biconcavity of the vertebral bodies [HPO term]
- Moderate generalized osteoporosis [HPO term]
- Platybasia [HPO term]
- Wormian bones [HPO term]
Not associated HPO term(s)
- Abnormality of body height [HPO term]
- Joint hypermobility [HPO term]
ORDO concept(s)
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures [DO Concept]
- osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures [MeSH Supplementary Concept]
- osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures [MeSH concept]

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