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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:Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1
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Accession:DOID:9005516 term browser browse the term
Synonyms:exact_synonym: IMNEPD1;   PTRH2-RELATED CONDITION
 primary_id: MIM: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 Cltc clathrin heavy chain ISO ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 ClinVar PMID:25741868 NCBI chr10:72,014,984...72,073,308
Ensembl chr10:71,517,663...71,573,737 		JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | ClinVar Annotator: match by term: PTRH2-related condition OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:27129381 PMID:28328138 PMID:28492532 More... NCBI chr10:72,002,450...72,012,606
Ensembl chr10:71,504,956...71,515,398 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      endocrine system disease 7039
        Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 4
          Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 2
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      endocrine system disease 7039
        pancreas disease 1255
          Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 4
            Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 2
paths to the root