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:Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis
go back to main search page
Accession:DOID:9005970 term browser browse the term
Synonyms:exact_synonym: PACA;   pancreatic and cerebellar agenesis
 primary_id: MESH:C563796
 alt_id: OMIM:609069
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptf1a pancreas associated transcription factor 1a ISO ClinVar Annotator: match by OMIM:609069
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis
OMIM
ClinVar
CTD
PMID:10507728, PMID:15543146, PMID:19650412, PMID:20065546, PMID:21749365, PMID:25741868, PMID:25775927, PMID:28492532 NCBI chr17:86,199,623...86,201,477
Ensembl chr17:86,199,623...86,201,477
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Fetal Diseases 239
          Fetal Growth Retardation 172
            Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
Path 2
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        acquired metabolic disease 2786
          carbohydrate metabolism disease 1757
            glucose metabolism disease 1757
              diabetes mellitus 1371
                neonatal diabetes 10
                  permanent neonatal diabetes mellitus 7
                    Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.