Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:osteogenesis imperfecta
go back to main search page
Accession:EFO:MONDO:0019019 term browser browse the term
Definition:Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.
Synonyms:exact_synonym: DOID:12347;   Lobstein disease;   Lobstein's syndrome;   NCIT:C26837;   OI;   Orphanet:666;   Osteopsathyrosis;   Porak and Durante disease;   Vrolik's disease;   brittle bone disease;   glass bone disease;   http://identifiers.org/medgen/45246;   http://identifiers.org/mesh/D010013;   http://identifiers.org/snomedct/78314001;   http://linkedlifedata.com/resource/umls/id/C0029434;   http://purl.bioontology.org/ontology/ICD10CM/Q78.0;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1219932551;   https://omim.org/phenotypicSeries/PS166200
 synonym: http://identifiers.org/meddra/10031243
 related_synonym: Fragilitas ossium;   Vrolik disease
 alt_id: MONDO:0019019
 xref: DOID:12347;   GARD:1017;   ICD10CM:Q78.0;   ICD9:756.51;   MEDGEN:45246;   MESH:D010013;   MIM:PS166200;   MedDRA:10031243;   NANDO:1200873;   NANDO:2201011;   NCI:C26837;   NORD:1535;   ORDO:666;   SCTID:78314001;   UMLS:C0029434;   icd11.foundation:1219932551
 see_also: https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta" xsd:anyURI {source="GARD:0001017


show annotations for term's descendants           Sort by:
Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            osteogenesis imperfecta 0
              high bone mass osteogenesis imperfecta 0
              osteogenesis imperfecta and a reduction of bone mineral density. + 0
              osteogenesis imperfecta, IIA 22 0
              osteogenesis imperfecta, recessive + 0
              osteogenesis imperfecta, type 21 0
              osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          musculoskeletal system disease 0
            skeletal system disease 0
              bone disease 0
                bone development disease 0
                  osteochondrodysplasia 0
                    osteogenesis imperfecta 0
                      high bone mass osteogenesis imperfecta 0
                      osteogenesis imperfecta and a reduction of bone mineral density. + 0
                      osteogenesis imperfecta, IIA 22 0
                      osteogenesis imperfecta, recessive + 0
                      osteogenesis imperfecta, type 21 0
                      osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 0
paths to the root