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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 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 17207
    syndrome 8126
      osteoporosis-pseudoglioma syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      musculoskeletal system disease 6418
        connective tissue disease 4422
          bone disease 3108
            bone development disease 1414
              osteochondrodysplasia 478
                osteogenesis imperfecta 39
                  osteoporosis-pseudoglioma syndrome 1
paths to the root