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:permanent neonatal diabetes mellitus
go back to main search page
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



show annotations for term's descendants           Sort by:
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 diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus ClinVar PMID:7716548 PMID:8650576 PMID:8923011 PMID:9075812 PMID:9382893 More... NCBI chr 1:96,598,568...96,679,563
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
ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
CTD
ClinVar
PMID:7555485 PMID:7958490 PMID:8068341 PMID:8132752 PMID:8325892 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:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 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 ISS
ISO
OMIM:606176
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
MouseDO
ClinVar
PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 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 DNA:missense mutations: :multiple
ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
DNA:missense mutations: :p.V59M, p.C166F, p.R201H (human)
ClinVar
RGD
PMID:1422196 PMID:9831713 PMID:9867219 PMID:10049691 PMID:10559219 More... RGD:11067932, RGD:12743642 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:9649577 PMID:12970316 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 diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus ClinVar PMID:18591390 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:2555564 PMID:7553875 PMID:8325892 PMID:8446612 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:15580558 PMID:15718250 PMID:25741868 PMID:26448950 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
OMIM
PMID:9831713 PMID:10049691 PMID:11872696 PMID:12213829 PMID:12475776 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 OMIM
ClinVar
PMID:7716548 PMID:8923011 PMID:9536098 PMID:9618169 PMID:9648840 More... NCBI chr 1:96,598,568...96,679,563
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: Diabetes mellitus, permanent neonatal 3 ClinVar PMID:16885549 PMID:17466004 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 PMID:3511099 PMID:3537011 PMID:6339950 PMID:11921414 PMID:17047922 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 OMIM
ClinVar
PMID:3511099 PMID:3537011 PMID:6339950 PMID:11921414 PMID:17047922 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: Diabetes mellitus, permanent neonatal 4 ClinVar PMID:25741868 PMID:27635400 PMID:33953728 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 term: PANCREATIC AND CEREBELLAR AGENESIS
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10507728 PMID:15543146 PMID:18591390 PMID:19650412 PMID:20065546 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 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        inherited metabolic disorder 6212
          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 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          inherited metabolic disorder 6212
            carbohydrate metabolic disorder 3265
              glucose metabolism disease 2069
                diabetes mellitus 1658
                  neonatal diabetes 11
                    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