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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 HMGB3 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: OMIM:300915
 xref: ORDO:431140
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr17:36,690,190...36,694,329
Ensembl chr17:36,690,249...36,694,325
Ensembl chr14:36,690,249...36,694,325
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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 13 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 13 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.