Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Community Projects (beta) QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1
go back to main search page
Accession:DOID:9005516 term browser browse the term
Synonyms:exact_synonym: IMNEPD1;   infantile-onset multisystem neurologic, endocrine, and pancreatic disease
 broad_synonym: IMNEPD
 primary_id: OMIM:616263


show annotations for term's descendants           Sort by:
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1		 OMIM
CTD
ClinVar		 PMID:25558065 PMID:25741868 PMID:27129381 PMID:28328138 PMID:31057140 More... NCBI chr10:71,505,113...71,515,297
Ensembl chr10:71,504,956...71,515,398 		JBrowse link
G S100pbp S100P binding protein ISO ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset ClinVar PMID:25741868 NCBI chr 5:141,494,352...141,535,752
Ensembl chr 5:141,494,353...141,535,525 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset ClinVar PMID:25741868 NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      endocrine system disease 6719
        Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 3
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      endocrine system disease 6719
        pancreas disease 1209
          Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 3
paths to the root