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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 midbrain and hindbrain malformations
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Accession:DOID:0080312 term browser browse the term
Definition:A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in ARHGEF2 on chromosome 1q22. (DO)
Synonyms:exact_synonym: NEDMHM
 primary_id: OMIM:617523
 alt_id: RDO:9001751
For additional species annotation, visit the Alliance of Genome Resources.


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neurodevelopmental disorder with midbrain and hindbrain malformations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with midbrain and hindbrain malformations ClinVar
OMIM
PMID:28453519 NCBI chr 2:187,964,100...188,022,847
Ensembl chr 2:187,977,008...188,021,377
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        Nervous System Malformations 1084
          neurodevelopmental disorder with midbrain and hindbrain malformations 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    syndromic intellectual disability 684
                      neurodevelopmental disorder with midbrain and hindbrain malformations 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.