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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, Childhood-Onset
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Accession:DOID:9007255 term browser browse the term
Definition:A rare disorder of heme biosynthesis characterized by severe PPOX deficiency, onset of photosensitization by porphyrins in early childhood, skeletal abnormalities of the hand, and, less consistently, short stature, impaired intellectual development, and seizures. Caused by homozygous or compound heterozygous mutation in the protoporphyrinogen oxidase gene (PPOX) on chromosome 1q23.
Synonyms:exact_synonym: VPCO;   Variegate Porphyria, homozygous variant
 primary_id: MIM:620483


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Variegate Porphyria, Childhood-Onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPOX protoporphyrinogen oxidase IAGP ClinVar Annotator: match by term: Variegate porphyria, childhood-onset OMIM
ClinVar		 PMID:2317449 PMID:3319294 PMID:8290408 PMID:8673113 PMID:8817334 More... NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97543
    disease of anatomical entity 91156
      endocrine system disease 12675
        liver disease 4143
          Hepatic Porphyrias 31
            variegate porphyria 6
              Variegate Porphyria, Childhood-Onset 1
Path 2
Term Annotations click to browse term
  disease 97543
    disease of anatomical entity 91156
      nervous system disease 53013
        Neurologic Manifestations 31863
          sensory system disease 20926
            skin disease 10912
              Genetic Skin Diseases 2999
                Hepatic Porphyrias 31
                  variegate porphyria 6
                    Variegate Porphyria, Childhood-Onset 1
paths to the root