Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:Meconium Ileus
go back to main search page
Accession:DOID:9006465 term browser browse the term
Synonyms:primary_id: OMIM:614665
 alt_id: RDO:9000532
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Meconium Ileus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Meconium ileus
ClinVar Annotator: match by OMIM:614665
OMIM
ClinVar
PMID:4006357, PMID:22521417, PMID:25370039, PMID:25741868, PMID:28492532 NCBI chr 4:170,659,993...170,740,274
Ensembl chr 4:170,659,998...170,740,274
JBrowse link
G Hfe homeostatic iron regulator ISO associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human) RGD PMID:30291871 RGD:14701045 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G LOC500354 similar to C030030A07Rik protein ISO ClinVar Annotator: match by term: Meconium ileus ClinVar PMID:4006357, PMID:22521417, PMID:25370039, PMID:25741868, PMID:28492532 NCBI chr 4:170,807,633...170,822,514
Ensembl chr 4:170,820,594...170,821,995
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Infant, Newborn, Diseases 546
          Meconium Ileus 3
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      gastrointestinal system disease 4672
        Gastrointestinal Diseases 2598
          intestinal disease 1495
            intestinal obstruction 38
              ileus 27
                Meconium Ileus 3
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.