Human Phenotype Ontology 
Grandparent Node:
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Abnormal enzyme/coenzyme activity (HP:0012379)help
Parent Node:
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Abnormality of alkaline phosphatase level (HP:0004379)help
..Starting node
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Low alkaline phosphatase (HP:0003282)help
Term ID: 3282
Name: Low alkaline phosphatase
Synonym: Decreased serum alkaline phosphatase; Low ALP
Definition: Abnormally reduced serum levels of alkaline phosphatase.
Comments:
Reference: HP:0003282
Genes and Diseases:
 
       Child Nodes:
........expandReduced leukocyte alkaline phosphatase (HP:0004852) help
................... HP:0008161 Absent leukocyte alkaline phosphatase
........expandLow tissue non-specific alkaline phosphatase (HP:0010683) help
................... HP:0010684 Low alkaline phosphatase of bone origin
................... HP:0010685 Low alkaline phosphatase of renal origin
................... HP:0010686 Low alkaline phosphatase of hepatic origin
........expandLow intestinal alkaline phosphatase (HP:0010687) help
........expandLow placental alkaline phosphatase (HP:0010688) help

 Sister Nodes: 
..expandElevated circulating alkaline phosphatase concentration (HP:0003155) 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:0003282HP:0003282Low alkaline phosphatase0ABL1 CL E G H2576OMIM:608232Leukemia, chronic myeloid51
HP:0003282HP:0003282Low alkaline phosphatase0ALPL CL E G H249438OMIM:146300Hypophosphatasia, adult.126
HP:0003282HP:0003282Low alkaline phosphatase0ALPL CL E G H249438OMIM:241510Hypophosphatasia, childhood.126
HP:0003282HP:0003282Low alkaline phosphatase0BCR CL E G H6131014OMIM:608232Leukemia, chronic myeloid5
HP:0003282HP:0003282Low alkaline phosphatase0C18ORF32 CL E G H49766131690OMIM:619985
HP:0003282HP:0003282Low alkaline phosphatase0CEBPE CL E G H10531836OMIM:245480Specific granule deficiency3
HP:0003282HP:0003282Low alkaline phosphatase0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0003282HP:0003282Low alkaline phosphatase0PIGK CL E G H100268965OMIM:618879NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0003282HP:0003282Low alkaline phosphatase0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003282HP:0003282Low alkaline phosphatase0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040282 - Frequent12
HP:0003282HP:0003282Low alkaline phosphatase0SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type.55
HP:0003282HP:0010687Low intestinal alkaline phosphatase1 CL E G H
HP:0003282HP:0010686Low alkaline phosphatase of hepatic origin1 CL E G H
HP:0003282HP:0010685Low alkaline phosphatase of renal origin1 CL E G H
HP:0003282HP:0010684Low alkaline phosphatase of bone origin1 CL E G H
HP:0003282HP:0010683Low tissue non-specific alkaline phosphatase1 CL E G H
HP:0003282HP:0010688Low placental alkaline phosphatase1 CL E G H
HP:0003282HP:0004852Reduced leukocyte alkaline phosphatase1ABL1 CL E G H2576OMIM:608232Leukemia, chronic myeloid.51
HP:0003282HP:0004852Reduced leukocyte alkaline phosphatase1BCR CL E G H6131014OMIM:608232Leukemia, chronic myeloid.5
HP:0003282HP:0041044Low neutrophil alkaline phosphatase1CEBPE CL E G H10531836OMIM:245480Specific granule deficiency.3
HP:0003282HP:0008161Absent leukocyte alkaline phosphatase2 CL E G H


Genes (10) :ABL1 ALPL BCR C18ORF32 CEBPE LIPA PIGK PIGS PIGT SLC39A4

Diseases (10) :OMIM:608232 OMIM:146300 OMIM:241510 OMIM:619985 OMIM:245480 OMIM:278000 OMIM:618879 OMIM:618143 ORPHA:369837 OMIM:201100
 

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