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RGD uses the Human Disease Ontology (DO, 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
 primary_id: MESH:C536063
 alt_id: OMIM:259770
 xref: GARD:4160;   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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteoporosis with pseudoglioma | ClinVar Annotator: match by term: Pseudoglioma with bone fragility
PMID:11719191 PMID:11793484 PMID:12579474 PMID:14727154 PMID:15024691 More... RGD:12792277, RGD:12792280 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      osteoporosis-pseudoglioma syndrome 1
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      musculoskeletal system disease 8193
        connective tissue disease 5724
          bone disease 4226
            bone development disease 2299
              osteochondrodysplasia 841
                osteogenesis imperfecta 50
                  osteoporosis-pseudoglioma syndrome 1
paths to the root