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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:abnormal hydroxymethylbilane synthase level
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Accession:MP:0020282 term browser browse the term
Definition:abnormal level of the enzyme that catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane while releasing four ammonia molecules
Synonyms:exact_synonym: abnormal (4-(2-carboxyethyl)-3-(carboxymethyl)pyrrol-2-yl)methyltransferase (hydrolyzing) level;   abnormal (4-[2-carboxyethyl]-3-[carboxymethyl]pyrrol-2-yl)methyltransferase (hydrolysing) level;   abnormal HMB synthase level;   abnormal porphobilinogen ammonia-lyase (polymerizing) level;   abnormal porphobilinogen deaminase level;   abnormal porphobilinogen:(4-[2-carboxyethyl]-3-[carboxymethyl]pyrrol-2-yl)methyltransferase (hydrolysing) level;   abnormal pre-uroporphyrinogen synthase level;   abnormal uroporphyrinogen I synthase level;   abnormal uroporphyrinogen I synthetase level;   abnormal uroporphyrinogen synthase level;   abnormal uroporphyrinogen synthetase level


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  mammalian phenotype 5420
    homeostasis/metabolism phenotype 1426
      abnormal homeostasis 1327
        abnormal enzyme/coenzyme level 86
          abnormal hydroxymethylbilane synthase level 0
            decreased hydroxymethylbilane synthase level 0
            increased hydroxymethylbilane synthase level 0
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