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:Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease
go back to main search page
Accession:DOID:9005516 term browser browse the term
Synonyms:exact_synonym: IMNEPD
 primary_id: OMIM:616263
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset ClinVar
OMIM
PMID:25558065 PMID:25574476 PMID:25741868 PMID:27129381 PMID:28328138 PMID:31057140 PMID:33092935 NCBI chr10:74,002,151...74,012,182
Ensembl chr10:74,002,151...74,012,159
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      endocrine system disease 5717
        Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      endocrine system disease 5717
        pancreas disease 1100
          Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1
paths to the root