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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:osteogenesis imperfecta type 19
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Accession:DOID:0111847 term browser browse the term
Definition:An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12. (DO)
Synonyms:exact_synonym: OI19;   osteogenesis imperfecta type XIX
 primary_id: OMIM:301014
 xref: NCI:C164153
For additional species annotation, visit the Alliance of Genome Resources.


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osteogenesis imperfecta type 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XIX ClinVar
OMIM
PMID:27380894 NCBI chr  X:40,258,933...40,309,047
Ensembl chr  X:40,258,493...40,310,563
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        osteochondrodysplasia 445
          osteogenesis imperfecta 39
            osteogenesis imperfecta type 19 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              osteochondrodysplasia 445
                osteogenesis imperfecta 39
                  osteogenesis imperfecta type 19 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.