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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 coloboma syndrome
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Accession:DOID:0090006 term browser browse the term
Definition:A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: CAKUT with or without ocular abnormalities;   CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH OR WITHOUT OCULAR ABNORMALITIES;   Coloboma-Ureteral-Renal Syndrome;   Optic Nerve Coloboma Renal Syndrome;   Optic coloboma, vesicoureteral reflux, and renal anomalies;   Optic nerve coloboma with renal disease;   PAPRS;   Papillorenal syndrome;   coloboma of optic nerve with renal disease;   isolated renal hypoplasia;   papillo-renal syndrome, optic nerve coloboma with renal disease;   renal-coloboma syndrome with macular abnormalities
 narrow_synonym: Papillorenal syndrome with macular abnormalities
 primary_id: MESH:C537168
 alt_id: OMIM:120330
 xref: GARD:4106;   ORDO:1475



show annotations for term's descendants           Sort by:
renal coloboma syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1an hypoxia inducible factor 1 subunit alpha inhibitor ISO ClinVar Annotator: match by term: Renal coloboma syndrome ClinVar PMID:11461952 PMID:24676634 PMID:28492532 NCBI chr 1:243,419,175...243,440,464
Ensembl chr 1:243,419,194...243,434,327
JBrowse link
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 ISO ClinVar Annotator: match by term: Renal coloboma syndrome ClinVar PMID:11461952 PMID:24676634 PMID:28492532 NCBI chr 1:243,408,656...243,413,715
Ensembl chr 1:243,408,619...243,413,817
JBrowse link
G Pax2 paired box 2 ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:120330
ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities | ClinVar Annotator: match by term: Renal coloboma syndrome
OMIM
CTD
MouseDO
ClinVar
PMID:2644560 PMID:3377002 PMID:7795640 PMID:8589702 PMID:8943028 More... NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    syndrome 10749
      renal coloboma syndrome 3
Path 2
Term Annotations click to browse term
  disease 21142
    Pathological Conditions, Signs and Symptoms 13286
      Signs and Symptoms 10764
        Neurologic Manifestations 9994
          sensory system disease 6892
            eye disease 3450
              Eye Abnormalities 781
                coloboma 121
                  renal coloboma syndrome 3
paths to the root