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 2
go back to main search page
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
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 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:27633801 PMID:28492532 PMID:29232904 PMID:30304524 PMID:33490854 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 17256
    disease of anatomical entity 16600
      endocrine system disease 5833
        Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2 1
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      endocrine system disease 5833
        pancreas disease 1117
          Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2 1
paths to the root