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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Snx3 sorting nexin 3 JBrowse link 20 47,225,382 47,263,390 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 16021
    physical disorder 766
      congenital nervous system abnormality 329
        microcephaly 222
          syndromic microphthalmia 8 1
Path 2
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  disease 16021
    Developmental Diseases 9337
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8165
        genetic disease 7689
          monogenic disease 5447
            autosomal genetic disease 4411
              autosomal dominant disease 2754
                complex cortical dysplasia with other brain malformations 528
                  Malformations of Cortical Development, Group I 378
                    microcephaly 222
                      syndromic microphthalmia 8 1
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