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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
 xref: GARD:10457;   MESH:C563425;   MIM:PS606176;   MONDO:0100164;   NCI:C114902


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:8650576 PMID:8923011 PMID:9075812 PMID:9382893 PMID:9519757 More... NCBI chr 1:105,734,992...105,816,272
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:8071309 PMID:8132752 More... NCBI chr14:84,999,019...85,041,098
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 1:261,186,119...261,186,686
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 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO
ISS		 DNA:missense mutations: :multiple
ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
OMIM:606176
DNA:missense mutations: :p.V59M, p.C166F, p.R201H (human)		 ClinVar
MouseDO
RGD		 PMID:1422196 PMID:9831713 PMID:9867219 PMID:10049691 PMID:10559219 More... RGD:11067932, RGD:12743642 NCBI chr 1:105,727,473...105,731,167
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 chr12:12,793,957...12,799,156
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 chr14:84,999,019...85,041,098
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 1:105,727,473...105,731,167
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 OMIM
ClinVar		 PMID:9831713 PMID:10049691 PMID:10559219 PMID:11872696 PMID:12213829 More... NCBI chr 1:105,727,473...105,731,167
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:7908292 PMID:8923011 PMID:9536098 PMID:9618169 More... NCBI chr 1:105,734,992...105,816,272
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 1:105,727,473...105,731,167
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:2196279 PMID:3511099 PMID:3537011 PMID:4019786 PMID:6339950 More... NCBI chr 1:261,186,119...261,186,686
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:2196279 PMID:3511099 PMID:3537011 PMID:4019786 PMID:6339950 More... NCBI chr 1:207,272,738...207,421,998
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 1:207,500,959...207,508,276
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS		 OMIM
CTD
ClinVar		 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 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        Infant, Newborn, Diseases 1297
          neonatal diabetes mellitus 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
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          inherited metabolic disorder 6627
            carbohydrate metabolic disorder 3418
              glucose metabolism disease 2162
                diabetes mellitus 1669
                  neonatal diabetes mellitus 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