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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:permanent neonatal diabetes mellitus
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Accession:DOID:0060639 term browser browse the term
Definition:A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. (DO)
Synonyms:exact_synonym: PDMI;   PNDM;   permanent diabetes mellitus, of infancy;   permanent neonatal diabetes mellitus (PNDM)
 narrow_synonym: DEND;   developmental delay, epilepsy, and neonatal diabetes;   permanent neonatal diabetes mellitus, with neurologic features
 primary_id: MESH:C563425
 xref: GARD:10457;   NCI:C114902;   OMIM:PS606176
For additional species annotation, visit the Alliance of Genome Resources.



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permanent neonatal diabetes mellitus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus ClinVar PMID:7716548 PMID:8650576 PMID:8923011 PMID:9075812 PMID:9382893 More... NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Gck glucokinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
CTD
ClinVar
PMID:7555485 PMID:8068341 PMID:8132752 PMID:8349034 PMID:8433729 More... NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus ClinVar PMID:17855560 PMID:18162506 PMID:18171712 PMID:18414213 PMID:18451997 More... NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
JBrowse link
G Ins2 insulin 2 ISO
ISS
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
OMIM:606176
ClinVar
MouseDO
PMID:17855560 PMID:18162506 PMID:18171712 PMID:18414213 PMID:18451997 More... NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO
ISS
ClinVar Annotator: match by OMIM:606176
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
DNA:missense mutations: :p.V59M, p.C166F, p.R201H (human)
DNA:missense mutations: :multiple
ClinVar
MouseDO
RGD
PMID:9867219 PMID:10559219 PMID:11395395 PMID:11872696 PMID:12196481 More... RGD:12743642, RGD:11067932 NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus ClinVar PMID:8506821 PMID:8988180 PMID:9326926 PMID:12970316 PMID:15001545 More... NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
JBrowse link
G Ptf1a pancreas associated transcription factor 1a ISO ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus ClinVar PMID:25741868 PMID:28492532 NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
JBrowse link
Permanent Neonatal Diabetes Mellitus 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gck glucokinase ISO ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 1 OMIM
ClinVar
PMID:1502186 PMID:8446612 PMID:9049484 PMID:10525657 PMID:11372010 More... NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 1 ClinVar PMID:25741868 NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
Permanent Neonatal Diabetes Mellitus 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: DIABETES MELLITUS, PERMANENT NEONATAL 2
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 2
ClinVar
OMIM
PMID:11872696 PMID:12475776 PMID:12524280 PMID:14871556 PMID:15115830 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
Permanent Neonatal Diabetes Mellitus 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: DIABETES MELLITUS, PERMANENT NEONATAL 3
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 3
ClinVar
OMIM
PMID:8923011 PMID:10204114 PMID:10426386 PMID:10685980 PMID:14715863 More... NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
Permanent Neonatal Diabetes Mellitus 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: DIABETES MELLITUS, PERMANENT NEONATAL 4
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 4
ClinVar PMID:17855560 PMID:18162506 PMID:18171712 PMID:18414213 PMID:18451997 More... NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: DIABETES MELLITUS, PERMANENT NEONATAL 4
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 4
ClinVar
OMIM
PMID:17855560 PMID:18162506 PMID:18171712 PMID:18414213 PMID:18451997 More... NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 4 ClinVar PMID:25741868 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link
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 term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis
ClinVar Annotator: match by OMIM:609069
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10507728 PMID:15543146 PMID:19650412 PMID:20065546 PMID:21749365 More... NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        inherited metabolic disorder 2663
          permanent neonatal diabetes mellitus 8
            Permanent Neonatal Diabetes Mellitus 1 2
            Permanent Neonatal Diabetes Mellitus 2 1
            Permanent Neonatal Diabetes Mellitus 3 2
            Permanent Neonatal Diabetes Mellitus 4 3
            Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
            Permanent Neonatal Diabetes Mellitus, with Neurologic Features 0
Path 2
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        acquired metabolic disease 2908
          carbohydrate metabolism disease 1803
            glucose metabolism disease 1803
              diabetes mellitus 1409
                neonatal diabetes 10
                  permanent neonatal diabetes mellitus 8
                    Permanent Neonatal Diabetes Mellitus 1 2
                    Permanent Neonatal Diabetes Mellitus 2 1
                    Permanent Neonatal Diabetes Mellitus 3 2
                    Permanent Neonatal Diabetes Mellitus 4 3
                    Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
                    Permanent Neonatal Diabetes Mellitus, with Neurologic Features 0
paths to the root