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:Brachycephaly, Trichomegaly, and Developmental Delay
go back to main search page
Accession:DOID:9003486 term browser browse the term
Definition:An autosomal dominant developmental disorder characterized by dysmorphic features of the face and hands, and may be associated with intellectual disability. (OMIM)
Synonyms:exact_synonym: MCINS
 primary_id: OMIM:617412
 alt_id: RDO:9001711
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps23 ribosomal protein S23 ISO ClinVar Annotator: match by term: MACINNES SYNDROME
ClinVar Annotator: match by term: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
ClinVar
OMIM
PMID:25741868 PMID:28257692 NCBI chr 2:22,079,339...22,080,909
Ensembl chr 2:22,079,302...22,080,918
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Neurodevelopmental Disorders 5688
        intellectual disability 3444
          Brachycephaly, Trichomegaly, and Developmental Delay 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            disease of mental health 7038
              developmental disorder of mental health 4374
                specific developmental disorder 3633
                  intellectual disability 3444
                    Brachycephaly, Trichomegaly, and Developmental Delay 1
paths to the root