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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
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Accession:DOID:13268 term browser browse the term
Definition:A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.
Synonyms:exact_synonym: Hematoporphyria;   Porphyrin Disorder;   Porphyrin Disorders;   Porphyrinopathy;   disorder of porphyrin and hem metabolism;   disorder of porphyrin metabolism;   porphyrias
 related_synonym: HFE POLYMORPHISM
 primary_id: MESH:D011164;   RDO:0001887
 xref: GARD:10353;   ICD10CM:E80.20;   ICD9CM:277.1;   NCI:C97096
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas1 5'-aminolevulinate synthase 1 IEP
ISO
protein:increased activity:liver (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:9222176 PMID:7547054 RGD:4145274 NCBI chr 8:106,876,514...106,889,852
Ensembl chr 8:106,876,514...106,889,917
JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus,nephrosclerosis RGD PMID:17435269 RGD:2313839 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: HFE POLYMORPHISM ClinVar PMID:10401000 PMID:25741868 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Urod uroporphyrinogen decarboxylase severity IEP RGD PMID:3596746 RGD:21081511 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
JBrowse link
acute intermittent porphyria term browser
Symbol Object Name Qualifiers 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: Hydroxymethylbilane Synthase Deficiency ClinVar PMID:22958180 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23650938 RGD:18337288 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency
ClinVar Annotator: match by term: Porphyria, Swedish type
ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
G Hmbs hydroxymethylbilane synthase severity
treatment
susceptibility
ISO ClinVar Annotator: match by term: Acute intermittent porphyria
ClinVar Annotator: match by term: Porphyria, Swedish type
ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway
DNA:mutations:multiple
DNA:mutations:multiple
DNA:splice-site mutation, missense mutation:intron 9, exon 10: IVS9-1G>A, p.R201W (human)
DNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse)
DNA:missense mutation:exon 10: p.R173W (173C>T) (human)
human mRNA in a mouse model
DNA:deletion:exon 12:669-698del (p.E223_L232del) (human)
DNA:SNPs, deletion, haplotype:multiple
DNA:missense mutation:cds: p.V215M (human)
human gene in a mouse model
DNA:SNPs, haplotype:multiple
DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human)
DNA:transversion:intron:IVS11-3C>G (human)
DNA:missense mutation:cd: p.A330P (human)
ClinVar Annotator: match by OMIM:176000
CTD Direct Evidence: marker/mechanism
DNA:transition, transversions:intron:IVS1+1G>A, +2T>A, +5C>G (human)
ClinVar
CTD
OMIM
RGD
PMID:1301948 PMID:1427766 PMID:1496994 PMID:1577472 PMID:1714233 More... RGD:4145271, RGD:19165346, RGD:21079461, RGD:19165358, RGD:21079460, RGD:21079459, RGD:21079458, RGD:21079457, RGD:21079456, RGD:21079455, RGD:21079454, RGD:21079453, RGD:19165351, RGD:21079452, RGD:19165352, RGD:19165353, RGD:21079451, RGD:21079450, RGD:21079449, RGD:4144787 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Ppox protoporphyrinogen oxidase ISO DNA:missense mutation:exon:p.R59W (mouse) RGD PMID:11929050 RGD:4145363 NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
JBrowse link
Acute Intermittent Porphyria, Nonerythroid Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Porphyria, acute intermittent, nonerythroid variant
ClinVar PMID:2511016 PMID:2563167 PMID:2915972 PMID:9199558 PMID:9860299 More... NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
acute porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISS OMIM:612740 MouseDO 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 ClinVar Annotator: match by term: Acute Porphyria ClinVar PMID:28492532 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Porphyria, hepatic ClinVar PMID:2892774 PMID:2920211 PMID:3775362 PMID:7706766 PMID:8644733 More... NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
JBrowse link
ALAD-Deficiency Porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO ClinVar Annotator: match by term: Porphobilinogen synthase deficiency
ClinVar Annotator: match by term: Porphyria, acute hepatic, digenic
ClinVar Annotator: match by OMIM:612740
OMIM
ClinVar
PMID:513604 PMID:1569184 PMID:1716854 PMID:1905639 PMID:2063868 More... NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:increased expression:liver RGD PMID:23390166 RGD:10449130 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
Coproporphyria term browser
Symbol Object Name Qualifiers 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: Porphyria hepatica II ClinVar PMID:22958180 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
JBrowse link
G Cpox coproporphyrinogen oxidase ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Coproporphyria
protein:decreased activity:liver (mouse)
ClinVar Annotator: match by term: Coproporphyria, digenic
ClinVar
RGD
PMID:7987309 PMID:8159699 PMID:8286403 PMID:8990017 PMID:9843038 More... RGD:19165350 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
JBrowse link
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:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519
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 chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Congenital erythropoietic porphyria ClinVar PMID:12200364 PMID:17148589 PMID:20301538 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Uros uroporphyrinogen III synthase susceptibility ISO
IAGP
ClinVar Annotator: match by term: Congenital erythropoietic porphyria
DNA:missense mutations,SNP,deletion:cds,introns:multiple
ClinVar Annotator: match by OMIM:263700
ClinVar
OMIM
RGD
PMID:1733834 PMID:1737856 PMID:2331520 PMID:7616657 PMID:7860775 More... RGD:1599715, RGD:18937001 NCBI chr 1:188,490,832...188,513,659
Ensembl chr 1:188,490,323...188,512,249
JBrowse link
erythropoietic protoporphyria term browser
Symbol Object Name Qualifiers 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: Ferrochelatase deficiency ClinVar PMID:22958180 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISS OMIM:177000 | OMIM:300752 MouseDO NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISS OMIM:177000 | OMIM:300752 MouseDO NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519
JBrowse link
G Areg amphiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
JBrowse link
G Btc betacellulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
JBrowse link
G Ereg epiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr14:17,027,287...17,041,062
Ensembl chr14:17,027,287...17,041,062
JBrowse link
G Fech ferrochelatase ISO CTD Direct Evidence: marker/mechanism|therapeutic
DNA:mutations:exons:
DNA:mutation:introns:IVS3-48C(human)
DNA:mutations:introns:IVS-48C,IVS1-23T(human)
CTD
RGD
PMID:10464147 PMID:12950064 PMID:15284838 PMID:15793285 PMID:17600043 More... RGD:14700889, RGD:14700886, RGD:14700883, RGD:11556165 NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
JBrowse link
Erythropoietic Protoporphyria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 OMIM
ClinVar
PMID:1376018 PMID:1729699 PMID:1755842 PMID:3047929 PMID:3940245 More... NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
JBrowse link
Erythropoietic Protoporphyria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: PROTOPORPHYRIA, ERYTHROPOIETIC, 2
ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 2
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:28874591 NCBI chr 8:65,805,460...65,845,643
Ensembl chr 8:65,805,511...65,845,082
JBrowse link
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Autosomal erythropoietic protoporphyria ClinVar PMID:1729699 PMID:11753383 PMID:14669009 PMID:16385445 PMID:16958804 More... NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
JBrowse link
Erythropoietic Protoporphyria, X-Linked Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 disease_progression ISO DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human)
ClinVar Annotator: match by OMIM:300752
OMIM
ClinVar
RGD
PMID:18760763 PMID:23263862 PMID:18760763 PMID:23263862 RGD:18337287, RGD:18337286 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519
JBrowse link
Harderoporphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpox coproporphyrinogen oxidase ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Harderoporphyria
protein:altered activity:blood, lymphocyte (human)
ClinVar
OMIM
RGD
PMID:6886003 PMID:7757079 PMID:7987309 PMID:8286403 PMID:9454777 More... RGD:25671431 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
JBrowse link
Hepatic Porphyrias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase IEP
ISO
protein:increased activity:liver (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:1905639 PMID:3684400 PMID:6721832 RGD:4144806 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
JBrowse link
G Cpox coproporphyrinogen oxidase IEP protein:decreased activity:liver, mitochondrial inner membrane (rat) RGD PMID:19482825 RGD:4144824 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
JBrowse link
G Fech ferrochelatase IEP protein:increased activity:liver (rat) RGD PMID:6721832 RGD:4144806 NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
JBrowse link
G Hmbs hydroxymethylbilane synthase IEP protein:increased activity:liver (rat) RGD PMID:6721832 RGD:4144806 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Ppox protoporphyrinogen oxidase ISO DNA:transition:cds:p.R59W (human)
DNA:missense mutation:cds:p.G232R (human)
protein:decreased activity:liver, kidney (mouse)
DNA:mutations:cds:multiple (human)
RGD PMID:9254745 PMID:8852667 PMID:9431441 PMID:10486317 RGD:1599174, RGD:1599172, RGD:4145281, RGD:1599176 NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO
IEP
protein:decreased activity:liver (mouse)
ClinVar Annotator: match by term: Porphyria, hepatic
protein:decreased activity:liver (rat)
ClinVar
RGD
PMID:2892774 PMID:2920211 PMID:3775362 PMID:7706766 PMID:8644733 More... RGD:4145290, RGD:4144806 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
JBrowse link
hepatoerythropoietic porphyria 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, Hepatoerythropoietic
ClinVar Annotator: match by term: Hepatoerythropoietic porphyria
ClinVar PMID:1634232 PMID:1905636 PMID:2892774 PMID:2920211 PMID:3775362 More... NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
JBrowse link
hereditary coproporphyria term browser
Symbol Object Name Qualifiers 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: CPO deficiency ClinVar PMID:22958180 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
JBrowse link
G Cpox coproporphyrinogen oxidase ISO ClinVar Annotator: match by term: Hereditary coproporphyria
DNA:missense mutations:exons:multiple
DNA:missense mutations, nonsense mutation:exons:multiple
DNA:mutations:multiple
DNA:missense mutations, deletion, frameshift mutation:multiple
ClinVar Annotator: match by OMIM:121300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:9536098 PMID:11309681 PMID:11831056 PMID:12181641 PMID:17576681 More... RGD:25671430, RGD:25671429, RGD:25671428, RGD:21079461 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746
JBrowse link
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 ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :p.H63D, p.C282Y (human)
DNA:missense mutations:cds:p.C282Y, p.H63D (human)
ClinVar
CTD
OMIM
RGD
PMID:8696333 PMID:8896550 PMID:8943161 PMID:9106528 PMID:9162021 More... 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: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY
ClinVar Annotator: match by term: Porphyria cutanea tarda
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:176100
ClinVar Annotator: match by null
protein:decreased activity:liver (human)
protein:decreased activity:liver (rat)
ClinVar
CTD
OMIM
RGD
PMID:1634232 PMID:2243121 PMID:2892774 PMID:2920211 PMID:3775362 More... RGD:1599713, RGD:4145077, RGD:4144182 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 NCBI chr 5:130,464,695...130,468,783
Ensembl chr 5:130,455,217...130,468,808
JBrowse link
variegate porphyria term browser
Symbol Object Name Qualifiers 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: PPOX deficiency ClinVar PMID:22958180 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 ClinVar Annotator: match by term: PPOX deficiency OMIM
ClinVar
PMID:8696333 PMID:8896550 PMID:8943161 PMID:9106528 PMID:9162021 More... 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
ClinVar
OMIM
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 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        porphyria 23
          Hepatic Porphyrias + 19
          Yusho Disease 0
          acute porphyria + 19
          cutaneous porphyria 4
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            porphyria 23
              Hepatic Porphyrias + 19
              Yusho Disease 0
              acute porphyria + 19
              cutaneous porphyria 4
paths to the root