Human Phenotype Ontology 
Grandparent Node:
expandAbnormal blood ion concentration (HP:0003111)help
Parent Node:
expandAbnormal blood phosphate concentration (HP:0100529)help
..Starting node
..expandElevated plasma pyrophosphate (HP:0011864)help
Term ID: 11864
Name: Elevated plasma pyrophosphate
Synonym:
Definition: An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.
Comments:
Reference: HP:0011864
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHyperphosphatemia (HP:0002905) help
..expandHypophosphatemia (HP:0002148) help
..expandobsolete Increased urine O-phosphoethanolamine level (HP:0410158) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011864HP:0011864Elevated plasma pyrophosphate0ALPL CL E G H249438OMIM:241510Hypophosphatasia, childhood.126
HP:0011864HP:0011864Elevated plasma pyrophosphate0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126


Genes (1) :ALPL

Diseases (2) :OMIM:241510 OMIM:241500
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.