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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:isolated microphthalmia 5
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Accession:DOID:0060837 term browser browse the term
Definition:An isolated 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
 xref: ICD10CM:Q15.8;   ORDO:251279
For additional species annotation, visit the Alliance of Genome Resources.


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isolated microphthalmia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen ClinVar PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More... NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		JBrowse link
G Mfrp membrane frizzled-related protein ISO DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)
ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen		 OMIM
ClinVar
RGD		 PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More... RGD:11553925 NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    sensory system disease 6551
      eye disease 3184
        microphthalmia 116
          isolated microphthalmia 17
            isolated microphthalmia 5 2
Path 2
Term Annotations click to browse term
  disease 18110
    disease of anatomical entity 17482
      nervous system disease 13149
        sensory system disease 6551
          eye disease 3184
            retinal disease 866
              retinal degeneration 527
                fundus dystrophy 387
                  retinitis pigmentosa 312
                    isolated microphthalmia 5 2
paths to the root