Osteogenesis imperfecta, type xix

Preferred Label : Osteogenesis imperfecta, type xix;

Symbol : OI19;

CISMeF acronym : OI19;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the membrane-bound transcription factor protease, site 2 gene (MBTPS2, 300294.0009);

Laboratory abnormalities : Elevated urinary pyridinoline crosslink profile;

Prefixed ID : #301014;

Details

Origin ID

301014;

UMLS CUI

C4746956;

Currated CISMeF NLP mapping
- Osteogenesis Imperfecta Type XIX [NCIt concept]
- osteogenesis imperfecta type 19 [DO Concept]
DO Cross reference
- osteogenesis imperfecta type 19 [DO Concept]
Genes related to phenotype
- Membrane-bound transcription factor protease, site 2 [OMIM gene]
HPO term(s)
- Biconcave vertebral bodies [HPO term]
- Blue sclerae [HPO term]
- Osteopenia [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Recurrent fractures [HPO term]
- Rhizomelia [HPO term]
- Scoliosis [HPO term]
- Severe short stature [HPO term]
- Vertebral wedging [HPO term]
- X-linked recessive inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteogenesis Imperfecta Type XIX [NCIt concept]

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