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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:hereditary coproporphyria
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Accession:DOID:13269 term browser browse the term
Definition:An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS.
Synonyms:exact_synonym: CPO deficiency;   CPOX deficiency;   HCP;   coproporphyrinogen oxidase deficiency
 narrow_synonym: CPX DEFICIENCY HARDEROPORPHYRIA
 primary_id: MESH:D046349
 alt_id: OMIM:121300
 xref: GARD:6619;   ICD10CM:E80.29;   NCI:C84759
For additional species annotation, visit the Alliance of Genome Resources.



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hereditary coproporphyria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: CPO deficiency | ClinVar Annotator: match by term: Hereditary coproporphyria ClinVar PMID:22958180 PMID:25741868 PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
JBrowse link
G Cpox coproporphyrinogen oxidase ISO ClinVar Annotator: match by term: Hereditary coproporphyria
DNA:missense mutations:exons:multiple
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, deletion, frameshift mutation:multiple
DNA:mutations:multiple
DNA:missense mutations, nonsense mutation:exons:multiple
OMIM
ClinVar
CTD
RGD
PMID:9536098 PMID:9888388 PMID:11309681 PMID:11831056 PMID:12181641 More... RGD:25671430, RGD:21079461, RGD:25671428, RGD:25671429 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
JBrowse link
Coproporphyria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Porphyria hepatica II ClinVar PMID:22958180 PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
JBrowse link
G Cpox coproporphyrinogen oxidase ISO protein:decreased activity:liver (mouse)
ClinVar Annotator: match by term: Coproporphyria | ClinVar Annotator: match by term: Coproporphyria, digenic
ClinVar
RGD
PMID:7987309 PMID:8159699 PMID:8286403 PMID:8990017 PMID:9843038 More... RGD:19165350 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
JBrowse link
Harderoporphyria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpox coproporphyrinogen oxidase ISO protein:altered activity:blood, lymphocyte (human)
ClinVar Annotator: match by term: Harderoporphyria
ClinVar
OMIM
RGD
PMID:6886003 PMID:7757079 PMID:7987309 PMID:8286403 PMID:9454777 More... RGD:25671431 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        porphyria 23
          acute porphyria 19
            hereditary coproporphyria 2
              Coproporphyria 2
              Harderoporphyria 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          inherited metabolic disorder 4644
            porphyria 23
              acute porphyria 19
                hereditary coproporphyria 2
                  Coproporphyria 2
                  Harderoporphyria 1
paths to the root