Osteogenesis Imperfecta Type XIX

Preferred Label : Osteogenesis Imperfecta Type XIX;

NCIt synonyms : OI19; Osteogenesis Imperfecta 19;

NCIt definition : An X-linked recessive sub-type of osteogenesis imperfecta caused by mutation(s) in the MBTPS2 gene, encoding membrane-bound transcription factor site-2 protease. It is characterized by prenatal fractures and osteopenia, with severe short stature in adulthood. Variable dysmorphic features may occur including scoliosis, pectal deformity, and anterior angulation of the tibia.;

NCI Metathesaurus CUI : CL966290;

Details

Origin ID

C164153;

UMLS CUI

C4746956;

Currated CISMeF NLP mapping
- Osteogenesis imperfecta, type xix [OMIM Phenotype]
- osteogenesis imperfecta type 19 [DO Concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteogenesis imperfecta, type xix [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
disease_mapped_to_gene
- MBTPS2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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