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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.

Term:porphyria
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Accession:MP:0005654 term browser browse the term
Definition:acquired or inherited group of disorders characterized by excessive production of porphyrins or their precursors; if acquired, it results from inhibition of enzymes in the heme metabolic pathway by drugs, toxins or abnormal metabolites



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porphyria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) IAGP MGI PMID:12429862 NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661
JBrowse link
G Cpox coproporphyrinogen oxidase IAGP MGI PMID:28600349 NCBI chr16:58,490,571...58,500,754
Ensembl chr16:58,490,655...58,537,999
JBrowse link
G Hmbs hydroxymethylbilane synthase IAGP MGI PMID:8563760 PMID:30615115 NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525
JBrowse link
G Ireb2 iron responsive element binding protein 2 IAGP MGI PMID:24896637 NCBI chr 9:54,769,942...54,819,818
Ensembl chr 9:54,771,073...54,819,814
JBrowse link
G Kcna1 potassium voltage-gated channel, shaker-related subfamily, member 1 IAGP MGI PMID:17250763 NCBI chr 6:126,613,426...126,622,764
Ensembl chr 6:126,617,360...126,623,347
JBrowse link
G Uros uroporphyrinogen III synthase IAGP MGI PMID:16314073 NCBI chr 7:133,287,871...133,312,176
Ensembl chr 7:133,287,972...133,311,801
JBrowse link

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  mammalian phenotype 16239
    homeostasis/metabolism phenotype 7359
      abnormal homeostasis 6528
        abnormal porphyrin level 17
          increased porphyrin level 17
            porphyria 6
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