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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:cutaneous porphyria
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Accession:DOID:13271 term browser browse the term
Definition:An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
Synonyms:exact_synonym: CEP;   Congenital Erythropoietic Porphyrias;   Deficiency of Uroporphyrinogen III Synthase;   Erythropoietic Porphyrias;   Gunther Disease;   Gunther's Disease;   Gunthers Disease;   Porphyria, Erythropoietic;   UROPORPHYRINOGEN III SYNTHASE DEFICIENCY;   UROS deficiency;   congenital erythropoietic porphyria
 primary_id: MESH:D017092
 alt_id: OMIM:263700;   RDO:0007025
 xref: GARD:4446;   ICD10CM:E80.0;   NCI:C84697
For additional species annotation, visit the Alliance of Genome Resources.


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cutaneous porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 aminolevulinic acid synthase 2, erythroid severity ISO DNA:mutation:exon: c.1757 A > T, p.Y586F (human) RGD PMID:21653323 RGD:11035240 NCBI chr  X:149,330,443...149,353,614
Ensembl chr  X:149,330,371...149,353,634 		JBrowse link
G Fech ferrochelatase ISO protein:decreased activity:skin fibroblast, liver (human)
DNA:transitions, frameshift mutations:exon:multiple (human)		 RGD PMID:1184741 PMID:8601739 RGD:4145285, RGD:1598932 NCBI chr18:64,589,613...64,622,169
Ensembl chr18:64,585,985...64,623,322 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Congenital erythropoietic porphyria ClinVar PMID:12200364 PMID:17148589 PMID:20301538 PMID:25741868 NCBI chr  X:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		JBrowse link
G Uros uroporphyrinogen III synthase susceptibility ISO
IAGP		 OMIM:263700
DNA:missense mutations,SNP,deletion:cds,introns:multiple
ClinVar Annotator: match by term: Congenital erythropoietic porphyria | ClinVar Annotator: match by term: Cutaneous porphyria
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD
RGD		 PMID:1733834 PMID:1737856 PMID:2331520 PMID:7616657 PMID:7860775 More... RGD:1599715, RGD:18937001 NCBI chr 7:133,287,871...133,312,176
Ensembl chr 7:133,287,972...133,311,801 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Nutritional and Metabolic Diseases 7394
      disease of metabolism 7394
        porphyria 26
          cutaneous porphyria 4
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            skin disease 3826
              Genetic Skin Diseases 1847
                cutaneous porphyria 4
paths to the root