Osteogenesis imperfecta, type II

Preferred Label : Osteogenesis imperfecta, type II;

Symbol : OI2;

CISMeF acronym : OIC; OI2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteogenesis imperfecta congenita, perinatal lethal form; Osteogenesis imperfecta congenita; Oi, type II; Vrolik type of osteogenesis imperfecta; OIC;

Description : Osteogenesis imperfecta type II constitutes a disorder characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency (Sillence et al., 1979; Barnes et al., 2006). Also see osteogenesis imperfecta type VII (610682), an autosomal recessive form of lethal OI caused by mutation in the CRTAP gene (605497).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen I, alpha-1 polypeptide gene (COL1A1, 120150.0001); Caused by mutation in the collagen I, alpha-2 polypeptide gene (COL1A2, 120160.0007);

Prefixed ID : #166210;

Détails

Origin ID

166210;

UMLS CUI

C0268358;

Automatic exact mappings (from CISMeF team)
- COL1A1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Osteogenesis imperfecta [ORDO Disease]
Currated CISMeF NLP mapping
- Osteogenesis Imperfecta Type II [NCIt concept]
- Osteogenesis imperfecta type 2 [ORDO Disease]
- Osteogenesis imperfecta, dominant perinatal lethal (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta, type 2A [MeSH concept]
- osteogenesis imperfecta type 2 [DO Concept]
- osteogenesis imperfecta type II [Disease (Nov.)]
- osteogenesis imperfecta, dominant perinatal lethal [SNOMED Notion]
- osteogenesis imperfecta, perinatal lethal [SNOMED Notion]
DO Cross reference
- osteogenesis imperfecta type 2 [DO Concept]
False automatic mappings
- Opioid-Induced Constipation [NCIt concept]
Genes related to phenotype
- Collagen, type I, alpha-1 [OMIM gene]
- Collagen, type I, alpha-2 [OMIM gene]
HPO term(s)
- Abnormality of pelvic girdle bone morphology [HPO term]
- Absent ossification of calvaria [HPO term]
- Autosomal dominant inheritance [HPO term]
- Beaded ribs [HPO term]
- Bell-shaped thorax [HPO term]
- Blue sclerae [HPO term]
- Broad long bones [HPO term]
- Congestive heart failure [HPO term]
- Convex nasal ridge [HPO term]
- Crumpled long bones [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Large fontanelles [HPO term]
- Limb undergrowth [HPO term]
- Multiple prenatal fractures [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Platyspondyly [HPO term]
- Premature birth [HPO term]
- Pulmonary insufficiency [HPO term]
- Recurrent fractures [HPO term]
- Respiratory insufficiency [HPO term]
- Short limb dwarfism [HPO term]
- Small for gestational age [HPO term]
- Soft calvaria [HPO term]
- Thin ribs [HPO term]
- Thin skin [HPO term]
- Thoracic hypoplasia [HPO term]
- Tibial bowing [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta type 2 [ORDO Disease]
See also inter- (CISMeF)
- Osteogenesis imperfecta, recessive perinatal lethal (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteogenesis Imperfecta Type II [NCIt concept]
- Osteogenesis imperfecta type 2 [ORDO Disease]
- Osteogenesis imperfecta type II (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta type IIA (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta, dominant perinatal lethal (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta, type 2A [MeSH concept]
- osteogenesis imperfecta type 2 [DO Concept]
- osteogenesis imperfecta type II [Disease (Nov.)]
- osteogenesis imperfecta type IIA [Disease (Nov.)]
- osteogenesis imperfecta, dominant perinatal lethal [SNOMED Notion]
- osteogenesis imperfecta, perinatal lethal [SNOMED Notion]
- osteogenesis imperfecta, type 2A [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Osteogenesis imperfecta type II (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta type IIA (disorder) [SNOMED CT concept]
- osteogenesis imperfecta type IIA [Disease (Nov.)]
- osteogenesis imperfecta, type 2A [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Osteogenesis imperfecta [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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