ONTOLOGY REPORT - ANNOTATIONS


Term:osteoporosis-pseudoglioma syndrome
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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;   ORDO:2788
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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

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  disease 14875
    syndrome 4220
      osteoporosis-pseudoglioma syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              osteochondrodysplasia 403
                osteogenesis imperfecta 37
                  osteoporosis-pseudoglioma syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.