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ONTOLOGY REPORT - ANNOTATIONS


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
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neurodevelopmental disorder with midbrain and hindbrain malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 JBrowse link 2 187,964,100 188,022,847 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        Nervous System Malformations 737
          neurodevelopmental disorder with midbrain and hindbrain malformations 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          brain disease 7549
            disease of mental health 5500
              developmental disorder of mental health 2691
                specific developmental disorder 1858
                  intellectual disability 1687
                    syndromic intellectual disability 674
                      neurodevelopmental disorder with midbrain and hindbrain malformations 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.