Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the skeletal system (HP:0000924)help
Parent Node:
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Abnormal liver morphology (HP:0410042)help
Parent Node:
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Ectopic calcification (HP:0010766)help
..Starting node
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Hepatic calcification (HP:0006559)help
Term ID: 6559
Name: Hepatic calcification
Synonym: Liver calcifications
Definition: The presence of abnormal calcium deposition in the liver.
Comments:
Reference: HP:0006559
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal calcification of the carpal bones (HP:0009164) help
..expandAdrenal calcification (HP:0010512) help
..expandCalcific stippling (HP:0002832) help
..expandCalcification of cartilage (HP:0100593) help
..expandCalcification of muscles (HP:0100249) help
..expandCalcification of ribs (HP:0040059) help
..expandCalcinosis cutis (HP:0025520) help
..expandCardiovascular calcification (HP:0011915) help
..expandCerebellar calcifications (HP:0007352) help
..expandCerebral calcification (HP:0002514) help
..expandChondrocalcinosis (HP:0000934) help
..expandEpiphyseal stippling (HP:0010655) help
..expandGingival calcification (HP:0025141) help
..expandGonadal calcification (HP:0008703) help
..expandIntervertebral disk calcification (HP:0005645) help
..expandIntraalveolar nodular calcifications (HP:0006514) help
..expandLaryngeal calcification (HP:0008754) help
..expandPancreatic calcification (HP:0005213) help
..expandPeriarticular calcification (HP:0025477) help
..expandPunctate vertebral calcifications (HP:0008420) help
..expandRetinal calcification (HP:0007862) help
..expandSternal punctate calcifications (HP:0006637) help
..expandSubcutaneous calcification (HP:0007618) help
..expandTarsal stippling (HP:0008131) help
..expandTracheal calcification (HP:0002787) 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:0006559HP:0006559Hepatic calcification0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040281 - Very frequent415
HP:0006559HP:0006559Hepatic calcification0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040283 - Occasional101
HP:0006559HP:0006559Hepatic calcification0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0006559HP:0006559Hepatic calcification0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040281 - Very frequent151
HP:0006559HP:0006559Hepatic calcification0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70


Genes (4) :ABCC6 CPT2 ENPP1 LBR

Diseases (4) :ORPHA:51608 ORPHA:228308 OMIM:608836 OMIM:215140
 

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