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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:variegate porphyria
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Accession:DOID:4346 term browser browse the term
Definition:An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh 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, COPROPORPHYRINS and protoporphyrinogen.
Synonyms:exact_synonym: Ppox Deficiency;   VP;   homozygous variegate porphyria;   porphyria variegata;   porphyria, South African type;   protocoproporphyria;   protoporphyrinogen oxidase deficiencies;   protoporphyrinogen oxidase deficiency
 narrow_synonym: VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT
 primary_id: MESH:D046350
 alt_id: OMIM:176200
 xref: GARD:7848;   NCI:C85219
For additional species annotation, visit the Alliance of Genome Resources.



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variegate porphyria 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: Variegate porphyria ClinVar PMID:22958180 PMID:24281366 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 Hfe homeostatic iron regulator ISO OMIM NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Ppox protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Variegate porphyria | ClinVar Annotator: match by term: Variegate porphyria, homozygous OMIM
ClinVar
PMID:1946837 PMID:3319294 PMID:8290408 PMID:8673113 PMID:8817334 More... NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
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
            variegate porphyria 3
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
                variegate porphyria 3
paths to the root