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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:LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
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Accession:DOID:9009169 term browser browse the term
Synonyms:exact_synonym: LDAMD
 primary_id: OMIM:616763
For additional species annotation, visit the Alliance of Genome Resources.


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LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia ClinVar PMID:25741868 NCBI chr 1:85,485,875...85,493,683
Ensembl chr 1:85,485,289...85,493,685
JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia ClinVar
OMIM
PMID:25741868 PMID:26573021 NCBI chr 1:85,386,492...85,399,699
Ensembl chr 1:85,386,470...85,399,699
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital nervous system abnormality 512
        microcephaly 410
          LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA 2
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                complex cortical dysplasia with other brain malformations 707
                  Malformations of Cortical Development, Group I 564
                    microcephaly 410
                      LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA 2
paths to the root