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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:Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
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Accession:DOID:9003021 term browser browse the term
Synonyms:exact_synonym: MCIDDS
 primary_id: OMIM:618284
For additional species annotation, visit the Alliance of Genome Resources.


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Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna4 potassium voltage-gated channel subfamily A member 4 ISO ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum OMIM
ClinVar
PMID:23181898 PMID:25741868 PMID:27582084 NCBI chr 3:98,293,295...98,300,763
Ensembl chr 3:98,297,554...98,300,680
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      congenital nervous system abnormality 977
        microcephaly 872
          Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal dominant disease 3709
                complex cortical dysplasia with other brain malformations 1163
                  Malformations of Cortical Development, Group I 1023
                    microcephaly 872
                      Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 1
paths to the root