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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 5'-aminolevulinate synthase 2 severity ISO DNA:mutation:exon: c.1757 A > T, p.Y586F (human) RGD PMID:21653323 RGD:11035240 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
JBrowse link
G Fech ferrochelatase ISO DNA:transitions, frameshift mutations:exon:multiple (human)
protein:decreased activity:skin fibroblast, liver (human)
RGD PMID:8601739, PMID:1184741 RGD:1598932, RGD:4145285 NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192
JBrowse link
G Uros uroporphyrinogen III synthase susceptibility ISO
IAGP
ClinVar Annotator: match by OMIM:263700
ClinVar Annotator: match by term: Congenital erythropoietic porphyria
DNA:missense mutations,SNP,deletion:cds,introns:multiple
OMIM
ClinVar
PMID:1733834 PMID:1737856 PMID:2331520 PMID:7616657 PMID:7860775 PMID:8829650 PMID:8946173 PMID:9803266 PMID:9834209 PMID:11254675 PMID:12060141 PMID:19099412 PMID:19965637 PMID:21343304 PMID:21365124 PMID:21631301 PMID:22816431 PMID:25741868 PMID:28492532, PMID:2331520, PMID:30454868 RGD:1599715, RGD:18937001 NCBI chr 1:205,755,766...205,778,170
Ensembl chr 1:205,756,640...205,777,167
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Nutritional and Metabolic Diseases 5514
      disease of metabolism 5514
        porphyria 21
          cutaneous porphyria 3
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          inherited metabolic disorder 2607
            porphyria 21
              cutaneous porphyria 3
paths to the root