Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal liver morphology (HP:0410042)

Parent Node:
Amyloidosis (HP:0011034)

..Starting node
..Hepatic amyloidosis (HP:0012280)

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:

Amyloidosis of peripheral nerves (HP:0100292)

Cardiac amyloidosis (HP:0030843)

Cerebral amyloid angiopathy (HP:0011970)

Conjunctival amyloidosis (HP:0010637)

Cutaneous amyloidosis (HP:0012309)

Generalized amyloid deposition (HP:0003216)

Renal amyloidosis (HP:0001917)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0012280	HP:0012280	Hepatic amyloidosis	0	TNFRSF1A CL E G H	7132	142680	TNF receptor-associated periodic fever syndrome (TRAPS)	142680	C1275126	OMIM	1	520	11916	191190
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (1) :TNFRSF1A

Diseases (1) :142680

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