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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:porphyria cutanea tarda
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Accession:DOID:3132 term browser browse the term
Definition:An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin. (DO)
Synonyms:exact_synonym: PCT;   PCT, 'FAMILIAL' TYPE;   PCT, type II;   PORPHYRIA CUTANEA TARDA, TYPE II;   PORPHYRIA, HEPATOCUTANEOUS TYPE;   UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY
 narrow_synonym: HEP;   UROD DEFICIENCY PORPHYRIA, HEPATOERYTHROPOIETIC
 primary_id: MESH:D017119
 alt_id: OMIM:176100
 xref: GARD:7433;   ICD10CM:E80.1;   NCI:C27725;   ORDO:101330
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
porphyria cutanea tarda term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase treatment ISO protein:decreased activity:blood, erythrocyte RGD PMID:526041 PMID:8100994 RGD:12904671, RGD:12904682 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
JBrowse link
G Cpox coproporphyrinogen oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11831056 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:14714565 RGD:11576310 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11153915 PMID:20957336 RGD:11576316 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:20957336 RGD:11576316 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Hfe homeostatic iron regulator no_association
susceptibility
ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :p.H63D, p.C282Y (human)
DNA:missense mutations:cds:p.C282Y, p.H63D (human)
CTD
OMIM
RGD
PMID:12622622 PMID:11134514 PMID:27661980 PMID:17137171 PMID:19001803 RGD:7207253, RGD:14701050, RGD:8694367, RGD:8694347 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO
IEP
DNA:missense mutation:cds:p.G281V (human)
ClinVar Annotator: match by term: Porphyria cutanea tarda | ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY
CTD Direct Evidence: marker/mechanism
protein:decreased activity:liver (rat)
protein:decreased activity:liver (human)
ClinVar
CTD
OMIM
RGD
PMID:1634232 PMID:2243121 PMID:2892774 PMID:2920211 PMID:3775362 More... RGD:1599713, RGD:4144182, RGD:4145077 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
JBrowse link
Porphyria Cutanea Tarda, Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Porphyria cutanea tarda, type I ClinVar PMID:8644733 PMID:25741868 PMID:28492532 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        porphyria 23
          acute porphyria 19
            porphyria cutanea tarda 7
              Porphyria Cutanea Tarda, Type I 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          inherited metabolic disorder 4645
            porphyria 23
              acute porphyria 19
                porphyria cutanea tarda 7
                  Porphyria Cutanea Tarda, Type I 1
paths to the root