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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
 primary_id: MESH:C536063
 alt_id: OMIM:259770
 xref: GARD:4160;   NCI:C130998;   ORDO:2788
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:259770
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
DNA:mutations:cds:p.W478R,p.W504C(human)
ClinVar Annotator: match by term: Osteoporosis with pseudoglioma
OMIM
ClinVar
CTD
PMID:11719191, PMID:11793484, PMID:12579474, PMID:14727154, PMID:15024691, PMID:15077203, PMID:15201508, PMID:15619672, PMID:15767861, PMID:15777745, PMID:15824851, PMID:15824861, PMID:15850991, PMID:15981244, PMID:16252235, PMID:16679074, PMID:17086708, PMID:17137849, PMID:17202888, PMID:17223614, PMID:17241106, PMID:17306638, PMID:17307038, PMID:17505772, PMID:17766366, PMID:18058054, PMID:18349089, PMID:18493104, PMID:18588671, PMID:18825883, PMID:18932002, PMID:19023643, PMID:20034086, PMID:25741868, PMID:26467025, PMID:28492532, PMID:11719191, PMID:16679074 RGD:12792277, RGD:12792280 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      osteoporosis-pseudoglioma syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              osteochondrodysplasia 446
                osteogenesis imperfecta 38
                  osteoporosis-pseudoglioma syndrome 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.