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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 15590
    Developmental Diseases 8723
      Neurodevelopmental Disorders 4047
        intellectual disability 1685
          Microcephaly with Mental Retardation and Digital Anomalies 1
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            autosomal genetic disease 3501
              autosomal dominant disease 2065
                complex cortical dysplasia with other brain malformations 477
                  Malformations of Cortical Development, Group I 334
                    microcephaly 206
                      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.