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ONTOLOGY REPORT - ANNOTATIONS


Term:isolated microphthalmia 5
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Accession:DOID:0060837 term browser browse the term
Definition:A microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: MCOP5;   microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome;   posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen
 primary_id: MESH:C567024
 alt_id: OMIM:611040;   RDO:0009489;   RDO:0015213
 xref: ORDO:251279
For additional species annotation, visit the Alliance of Genome Resources.


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isolated microphthalmia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1qtnf5 C1q and TNF related 5 JBrowse link 8 48,443,515 48,445,639 RGD:8554872
G Mfrp membrane frizzled-related protein JBrowse link 8 48,437,720 48,443,421 RGD:7240710
RGD:8554872
RGD:11553925

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Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      eye and adnexa disease 2242
        eye disease 2242
          microphthalmia 91
            isolated microphthalmia 5 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              retinal disease 715
                retinal degeneration 407
                  fundus dystrophy 264
                    retinitis pigmentosa 242
                      isolated microphthalmia 5 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.