Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 OMIM:251255
ClinVar Annotator: match by term: KELLY SYNDROME
ClinVar Annotator: match by term: Microcephaly with mental retardation and digital anomalies
OMIM
ClinVar
PMID:18071751 PMID:21998596 PMID:25741868 NCBI chr18:3,134,630...3,227,702
Ensembl chr18:3,162,543...3,227,688
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Neurodevelopmental Disorders 4520
        intellectual disability 2163
          Microcephaly with Mental Retardation and Digital Anomalies 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                complex cortical dysplasia with other brain malformations 707
                  Malformations of Cortical Development, Group I 564
                    microcephaly 410
                      Microcephaly with Mental Retardation and Digital Anomalies 1
paths to the root