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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: MIM: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:25741868 PMID:26539891 PMID:36724785 NCBI chr 3:146,639,048...146,682,945
Ensembl chr 3:146,639,054...146,682,847 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Neurodevelopmental Disorders 6962
        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        genetic disease 13375
          monogenic disease 10925
            autosomal genetic disease 10413
              autosomal dominant disease 6762
                complex cortical dysplasia with other brain malformations 1640
                  Malformations of Cortical Development, Group I 1398
                    microcephaly 1145
                      NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES 1
paths to the root