PATHWAY ONTOLOGY - ANNOTATIONS
The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (http://rgd.mcw.edu/contact/index.shtml ).
Term: hypophosphatasia pathway
Accession: PW:0001881
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Definition: A genetic metabolic disorder due to impaired bone alkaline phosphatase activity and manifesting in a range of phenotypes.
Synonyms: exact_synonym: hypophosphatasia disease pathway
related_synonym: SMP:00503
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Alpl
alkaline phosphatase, biomineralization associated
ISO
SMPDB
SMP:00503
NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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Aox1
aldehyde oxidase 1
ISO
SMPDB
SMP:00503
NCBI chr 9:59,579,621...59,658,772
Ensembl chr 9:59,579,649...59,658,770
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Pdxk
pyridoxal kinase
ISO
SMPDB
SMP:00503
NCBI chr20:10,210,276...10,232,314
Ensembl chr20:10,210,289...10,232,110
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Pdxp
pyridoxal phosphatase
ISO
SMPDB
SMP:00503
NCBI chr 7:110,472,515...110,477,963
Ensembl chr 7:110,472,515...110,477,963
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Pnpo
pyridoxamine 5'-phosphate oxidase
ISO
SMPDB
SMP:00503
NCBI chr10:81,924,584...81,930,844
Ensembl chr10:81,924,569...81,930,871
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