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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: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


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Microcephaly with Mental Retardation and Digital Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Jawad syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18071751 PMID:21998596 PMID:24389050 PMID:25741868 PMID:27848944 More... NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Neurodevelopmental Disorders 6832
        intellectual disability 4290
          Microcephaly with Mental Retardation and Digital Anomalies 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal dominant disease 6235
                complex cortical dysplasia with other brain malformations 1588
                  Malformations of Cortical Development, Group I 1373
                    microcephaly 1124
                      Microcephaly with Mental Retardation and Digital Anomalies 1
paths to the root