Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   


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
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;   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.

show annotations for term's descendants           Sort by:
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 chr20:45,992,446...46,025,361
Ensembl chr20:45,992,720...46,025,379
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      Congenital Foot Deformities 87
        syndromic microphthalmia 8 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                complex cortical dysplasia with other brain malformations 1421
                  Malformations of Cortical Development, Group I 1267
                    microcephaly 1103
                      syndromic microphthalmia 8 1
paths to the root