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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;   CPOX-RELATED CONDITION;   CPOX-RELATED DISORDERS;   Coproporphyria;   HCP;   Porphyria Hepatica, Coproporphyria;   coproporphyrinogen oxidase deficiency;   hereditary coproporphyria porphyria;   porphyria hepatica II
 narrow_synonym: COPROPORPHYRIA, DIGENIC;   CPX DEFICIENCY HARDEROPORPHYRIA
 primary_id: MESH:C535469;   MESH:D046349
 alt_id: DOID:9005794;   OMIM:121300;   RDO:0000598
 xref: GARD:6619;   ICD10CM:E80.29;   NCI:C84759
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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
ISS		 ClinVar Annotator: match by term: CPOX-related condition | ClinVar Annotator: match by term: CPOX-related disorders | ClinVar Annotator: match by term: Coproporphyria | ClinVar Annotator: match by term: Coproporphyria, digenic | ClinVar Annotator: match by term: Hereditary coproporphyria
OMIM:121300
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, deletion, frameshift mutation:multiple
DNA:mutations:multiple
DNA:missense mutations, nonsense mutation:exons:multiple
DNA:missense mutations:exons:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:6886003 PMID:7757079 PMID:7987309 PMID:8159699 PMID:8286403 More... RGD:21079461, RGD:25671428, RGD:25671429, RGD:25671430 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		 OMIM
ClinVar
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 18976
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        porphyria 26
          acute porphyria 22
            hereditary coproporphyria 2
              Harderoporphyria 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              Genetic Skin Diseases 1852
                Hepatic Porphyrias 22
                  hereditary coproporphyria 2
                    Harderoporphyria 1
paths to the root