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ONTOLOGY REPORT - ANNOTATIONS


Term:Microcephaly with Mental Retardation and Digital Anomalies
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Accession:DOID:9008107 term browser browse the term
Synonyms:exact_synonym: JWDS;   Jawad syndrome;   Kelly syndrome
 broad_synonym: RBBP8-related disorder;   RBBP8-related disorders
 primary_id: MESH:C567101
 alt_id: OMIM:251255;   RDO:0015273
For additional species annotation, visit the Alliance of Genome Resources.


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Microcephaly with Mental Retardation and Digital Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbbp8 RB binding protein 8, endonuclease JBrowse link 18 3,134,630 3,227,702 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Neurodevelopmental Disorders 4095
        intellectual disability 1721
          Microcephaly with Mental Retardation and Digital Anomalies 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal dominant disease 2310
                complex cortical dysplasia with other brain malformations 492
                  Malformations of Cortical Development, Group I 347
                    microcephaly 218
                      Microcephaly with Mental Retardation and Digital Anomalies 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.