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Human Disease and Mouse Model Detail
Human Disease Hyperphenylalaninemia, Bh4-Deficient, C; HPABH4C
OMIM ID: 261630
Human Phenotype Ontology associations
Synonyms Dhpr Deficiency; Dihydropteridine Reductase Deficiency; Hyperphenylalaninemia, BH4-Deficient; Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Dhpr Deficiency; Qdpr Deficiency; Quinoid Dihydropteridine Reductase Deficiency
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     QDPR* Qdpr   HomoloGene and HGNC

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory