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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:renal-hepatic-pancreatic dysplasia
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Accession:DOID:0060259 term browser browse the term
Definition:A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. (DO)
Synonyms:exact_synonym: Ivemark's syndrome;   RHPD
 primary_id: MESH:C567142
 xref: OMIM:PS208540;   ORDO:294415



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Meckel syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephronophthisis 3 (adolescent) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7
OMIM
CTD
ClinVar
PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 More... NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017
JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephronophthisis 3 (adolescent) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1
OMIM
CTD
ClinVar
PMID:8874114 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 More... NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017
JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek8 NIMA (never in mitosis gene a)-related expressed kinase 8 ISO ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2 OMIM
ClinVar
PMID:19550299 PMID:23418306 PMID:25741868 PMID:25741876 PMID:26697755 More... NCBI chr11:78,056,932...78,067,501
Ensembl chr11:78,056,932...78,067,501
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      gastrointestinal system disease 6724
        pancreas disease 972
          renal-hepatic-pancreatic dysplasia 2
            Meckel syndrome 7 1
            Renal-Hepatic-Pancreatic Dysplasia 1 1
            Renal-Hepatic-Pancreatic Dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      Immune & Inflammatory Diseases 5164
        immune system disease 4459
          lymphatic system disease 1637
            splenic disease 157
              visceral heterotaxy 112
                situs inversus 68
                  renal-hepatic-pancreatic dysplasia 2
                    Meckel syndrome 7 1
                    Renal-Hepatic-Pancreatic Dysplasia 1 1
                    Renal-Hepatic-Pancreatic Dysplasia 2 1
paths to the root