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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    syndrome 4210
      osteoporosis-pseudoglioma syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      musculoskeletal system disease 3973
        connective tissue disease 2568
          bone disease 2114
            bone development disease 891
              osteochondrodysplasia 402
                osteogenesis imperfecta 36
                  osteoporosis-pseudoglioma syndrome 1
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