Human Phenotype Ontology 
Grandparent Node:
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Abnormal blood transition element cation concentration (HP:0011030)help
Parent Node:
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Abnormal liver morphology (HP:0410042)help
Parent Node:
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Abnormality of iron homeostasis (HP:0011031)help
..Starting node
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Abnormal hepatic iron concentration (HP:0040134)help
Term ID: 40134
Name: Abnormal hepatic iron concentration
Synonym: Abnormal liver iron concentration; Abnormal liver iron level
Definition:
Comments:
Reference: HP:0040134
Genes and Diseases:
 
       Child Nodes:
........expandElevated hepatic iron concentration (HP:0012465) help

 Sister Nodes: 
..expandAbnormal circulating ferritin concentration (HP:0040133) help
..expandAbnormal serum iron concentration (HP:0040130) help
..expandAbnormal transferrin saturation (HP:0040135) help
..expandIncreased total iron binding capacity (HP:0025196) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040134HP:0040134Abnormal hepatic iron concentration0 CL E G H
HP:0040134HP:0012465Elevated hepatic iron concentration1 CL E G H


Genes (5) :BCS1L CP GLRX5 PIGA STEAP3

Diseases (5) :53693 48818 616860 300868 300298
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.