Osteogenesis imperfecta, type XVII

Preferred Label : Osteogenesis imperfecta, type XVII;

Symbol : OI17;

CISMeF acronym : OI17;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cysteine-rich acidic secreted-protein gene (SPARC, 182120.0001);

Laboratory abnormalities : Normal serum biochemistry;

Prefixed ID : #616507;

Details

Origin ID

616507;

UMLS CUI

C4225301;

CISMeF manual mappings
- osteogenesis imperfecta type 17 [DO Concept]
DO Cross reference
- osteogenesis imperfecta type 17 [DO Concept]
Genes related to phenotype
- Secreted protein, acidic, cysteine-rich [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased muscle mass [HPO term]
- Delayed speech and language development [HPO term]
- Hypotonia [HPO term]
- Intraventricular hemorrhage [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Osteoporosis [HPO term]
- Platyspondyly [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Soft skin [HPO term]
- Thin metacarpal cortices [HPO term]
- Vertebral compression fracture [HPO term]
Not associated HPO term(s)
- Abnormality of the dentition [HPO term]
- Hearing abnormality [HPO term]
ORDO concept(s)
- Osteogenesis imperfecta [ORDO Disease]
- Osteogenesis imperfecta type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- osteogenesis imperfecta type 17 [DO Concept]

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