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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:NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES
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Accession:DOID:9007570 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech, and delayed walking with an abnormal gait.
Synonyms:exact_synonym: NEDMIM
 primary_id: OMIM:620445



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NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tti1 TELO2 interacting protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and movement abnormalities OMIM
ClinVar
PMID:26539891 PMID:36724785 NCBI chr 3:146,639,048...146,682,945
Ensembl chr 3:146,639,054...146,682,847
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    Developmental Disease 18459
      Neurodevelopmental Disorders 6814
        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 21140
    Developmental Disease 18459
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
        genetic disease 18264
          monogenic disease 10276
            autosomal genetic disease 9422
              autosomal dominant disease 6189
                complex cortical dysplasia with other brain malformations 1582
                  Malformations of Cortical Development, Group I 1370
                    microcephaly 1122
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES 1
paths to the root