Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
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Abnormal liver morphology (HP:0410042)help
Parent Node:
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Amyloidosis (HP:0011034)help
..Starting node
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Hepatic amyloidosis (HP:0012280)help
Term ID: 12280
Name: Hepatic amyloidosis
Synonym:
Definition: A form of amyloidosis that affects the liver.
Comments:
Reference: HP:0012280
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAmyloidosis of peripheral nerves (HP:0100292) help
..expandCardiac amyloidosis (HP:0030843) help
..expandCerebral amyloid angiopathy (HP:0011970) help
..expandConjunctival amyloidosis (HP:0010637) help
..expandCutaneous amyloidosis (HP:0012309) help
..expandGeneralized amyloid deposition (HP:0003216) help
..expandRenal amyloidosis (HP:0001917) 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:0012280HP:0012280Hepatic amyloidosis0B2M CL E G H567914ORPHA:314652Variant ABeta2M amyloidosisHP:0040283 - Occasional8
HP:0012280HP:0012280Hepatic amyloidosis0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040283 - Occasional104
HP:0012280HP:0012280Hepatic amyloidosis0TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant.131


Genes (3) :B2M SLC7A7 TNFRSF1A

Diseases (3) :ORPHA:314652 ORPHA:470 OMIM:142680
 

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