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RGD uses the Human Disease Ontology (DO, 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
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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;   Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism;   Viljoen-Smart syndrome;   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
For additional species annotation, visit the Alliance of Genome Resources.

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syndromic microphthalmia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snx3 sorting nexin 3 ISO OMIM NCBI chr20:47,225,382...47,263,390
Ensembl chr20:47,225,619...47,263,390
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    physical disorder 985
      congenital nervous system abnormality 535
        microcephaly 433
          syndromic microphthalmia 8 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    microcephaly 433
                      syndromic microphthalmia 8 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.