Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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:MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
go back to main search page
Accession:DOID:9002787 term browser browse the term
Synonyms:exact_synonym: MACID;   MACROCEPHALY, ACQUIRED, WITH MENTAL RETARDATION;   acquired macrocephaly with impaired intellectual development
 pimary_id: OMIM:618286
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfib nuclear factor I/B ISO ClinVar Annotator: match by term: MACROCEPHALY, ACQUIRED, WITH MENTAL RETARDATION
ClinVar Annotator: match by term: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
ClinVar
OMIM
PMID:25741868 PMID:30388402 NCBI chr 5:100,436,343...100,647,962
Ensembl chr 5:100,439,082...100,647,727
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Neurodevelopmental Disorders 5663
        intellectual disability 3433
          MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                complex cortical dysplasia with other brain malformations 1183
                  Malformations of Cortical Development, Group I 1042
                    Macrocephaly 65
                      MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 1
paths to the root