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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
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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 16022
    Developmental Diseases 9336
      Neurodevelopmental Disorders 4302
        intellectual disability 1940
          Microcephaly with Mental Retardation and Digital Anomalies 1
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal dominant disease 2753
                complex cortical dysplasia with other brain malformations 527
                  Malformations of Cortical Development, Group I 377
                    microcephaly 221
                      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.