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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:osteoporosis-pseudoglioma syndrome
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Accession:DOID:0060849 term browser browse the term
Definition:A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: OPPG;   OPS;   ocular form of osteogenesis imperfecta;   osteogenesis imperfecta, ocular form;   osteoporosis with pseudoglioma;   pseudoglioma with bone fragility
 xref: GARD:4160;   MESH:C536063;   MIM:259770;   MONDO:0009820;   NCI:C130998;   ORDO:2788


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osteoporosis-pseudoglioma syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO
ISS		 CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
DNA:mutations:cds:p.W478R,p.W504C(human)
OMIM:259770
ClinVar Annotator: match by term: Osteoporosis with pseudoglioma | ClinVar Annotator: match by term: Pseudoglioma with bone fragility		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:11719191 PMID:11793484 PMID:12579474 PMID:14727154 More... RGD:12792277, RGD:12792280 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      osteoporosis-pseudoglioma syndrome 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8488
        connective tissue disease 5958
          bone disease 4411
            bone development disease 2373
              osteochondrodysplasia 869
                osteogenesis imperfecta 60
                  osteoporosis-pseudoglioma syndrome 1
paths to the root