Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:osteoporosis-pseudoglioma syndrome
go back to main search page
Accession:DOID:0060849 term browser browse the term
Definition:An autosomal recessive disease 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;   OSTEOPOROSIS WITH PSEUDOGLIOMA;   ocular form of osteogenesis imperfecta;   osteogenesis imperfecta, ocular form;   pseudoglioma with bone fragility
 primary_id: MESH:C536063
 alt_id: OMIM:259770;   RDO:0001482
 xref: GARD:4160;   NCI:C130998;   ORDO:2788
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
osteoporosis-pseudoglioma syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:7240710
RGD:8554872
RGD:11554173
RGD:12792277
RGD:12792280

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      osteoporosis-pseudoglioma syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                osteogenesis imperfecta 35
                  osteoporosis-pseudoglioma syndrome 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.