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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 2
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Accession:DOID:9000988 term browser browse the term
Definition:An autosomal recessive multisystemic disorder characterized by cholestatic hepatitis, poor feeding associated with poor overall growth, and hypoglycemia apparent from infancy. Caused by homozygous or compound heterozygous mutation in the YARS1 gene on chromosome 1p35. (OMIM)
Synonyms:exact_synonym: IMNEPD2
 primary_id: OMIM:619418


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Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 OMIM
ClinVar		 PMID:14606043 PMID:16429158 PMID:19561293 PMID:25741868 PMID:26138142 More... 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 2 1
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 2 1
paths to the root