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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:syndromic microphthalmia 13
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Accession:DOID:0111811 term browser browse the term
Definition:A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: MAINE MICROPHTHALMOS;   MCOPS13;   X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome;   colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation
 primary_id: MIM:300915
 xref: ORDO:431140


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syndromic microphthalmia 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgb3 high mobility group box 3 ISO OMIM NCBI chr  X:149,296,303...149,301,290
Ensembl chr  X:149,296,375...149,301,292 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    physical disorder 5206
      congenital nervous system abnormality 1542
        microcephaly 1150
          syndromic microphthalmia 13 1
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10963
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                complex cortical dysplasia with other brain malformations 1647
                  Malformations of Cortical Development, Group I 1402
                    microcephaly 1150
                      syndromic microphthalmia 13 1
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