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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:Meconium Ileus
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Accession:DOID:9006465 term browser browse the term
Definition:This disease is intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium.
Synonyms:exact_synonym: INTESTINAL OBSTRUCTION IN THE NEWBORN DUE TO GUANYLATE CYCLASE 2C DEFICIENCY
 narrow_synonym: cystic fibrosis associated meconium ileus
 primary_id: OMIM:614665
 xref: EFO:0004608


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 C4h12orf60 similar to human chromosome 12 open reading frame 60 ISO ClinVar Annotator: match by term: Meconium ileus ClinVar PMID:22521417 PMID:25370039 NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237 		JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | ClinVar Annotator: match by term: Meconium ileus OMIM
ClinVar		 PMID:4006357 PMID:22521417 PMID:24033266 PMID:25370039 PMID:25741868 More... NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092 		JBrowse link
G Hfe homeostatic iron regulator ISO associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human) RGD PMID:30291871 RGD:14701045 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Infant, Newborn, Diseases 1193
          Meconium Ileus 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      gastrointestinal system disease 7050
        intestinal disease 3073
          intestinal obstruction 211
            ileus 32
              Meconium Ileus 3
paths to the root