Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:syndromic microphthalmia 8
go back to main search page
Accession:DOID:0111803 term browser browse the term
Definition:A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. (DO)
Synonyms:exact_synonym: MCOPS8;   MMEP;   MMEP syndrome;   Viljoen-Smart syndrome;   microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism;   microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome;   syndromic microphthalmia type 8
 primary_id: MESH:C537686
 alt_id: OMIM:601349
 xref: GARD:3693;   ORDO:3434


show annotations for term's descendants           Sort by:
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    physical disorder 4879
      Congenital Foot Deformities 175
        syndromic microphthalmia 8 0
Path 2
Term Annotations click to browse term
  disease 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        genetic disease 17431
          monogenic disease 10125
            autosomal genetic disease 9332
              autosomal dominant disease 6137
                complex cortical dysplasia with other brain malformations 1587
                  Malformations of Cortical Development, Group I 1368
                    microcephaly 1121
                      syndromic microphthalmia 8 0
paths to the root