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Symbol
Name
ID
Hmbs
hydroxymethylbilane synthase
MGI:96112
Phenotype annotations related to liver/biliary system
Darker colors indicate more annotations
Human Phenotypes
Hepatomegaly
Cholelithiasis
Pigment gallstones
Jaundice
Hepatocellular carcinoma
Disease(s) Associated with HMBS
acute intermittent porphyria
sickle cell anemia

Mouse Phenotypes
abnormal liver morphology
Availability Mouse Genotype
Hmbstm1.1Rjde/Hmbstm1.1Rjde
Hmbstm2Uam/Hmbstm3Uam

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory