Osteogenesis imperfecta, type X

Preferred Label : Osteogenesis imperfecta, type X;

Symbol : OI10;

CISMeF acronym : OI10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oi, type X;

Description : Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the serpin peptidase inhibitor, clade H, member 1 (SERPINH1, 600943.0002);

Prefixed ID : #613848;

Details

Origin ID

613848;

UMLS CUI

C3151211;

CISMeF manual mappings
- osteogenesis imperfecta type 10 [DO Concept]
DO Cross reference
- osteogenesis imperfecta type 10 [DO Concept]
Genes related to phenotype
- Serpin peptidase inhibitor, clade h, member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Bowing of the long bones [HPO term]
- Broad ribs [HPO term]
- Chronic lung disease [HPO term]
- Dentinogenesis imperfecta [HPO term]
- Generalized hypotonia [HPO term]
- Generalized joint laxity [HPO term]
- Genu valgum [HPO term]
- High forehead [HPO term]
- High pitched voice [HPO term]
- Inguinal hernia [HPO term]
- Joint laxity [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Micromelia [HPO term]
- Midface retrusion [HPO term]
- Narrow chest [HPO term]
- Narrow forehead [HPO term]
- Nephrolithiasis [HPO term]
- Osteopenia [HPO term]
- Platyspondyly [HPO term]
- Prominent forehead [HPO term]
- Pyloric stenosis [HPO term]
- Relative macrocephaly [HPO term]
- Scoliosis [HPO term]
- Shallow orbits [HPO term]
- Short stature [HPO term]
- Thin ribs [HPO term]
- Triangular face [HPO term]
- Vertebral compression fracture [HPO term]
ORDO concept(s)
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- osteogenesis imperfecta type 10 [DO Concept]

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