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:
Storage in hepatocytes (HP:0031137)

Parent Node:
Lipid accumulation in hepatocytes (HP:0006561)

..Starting node
..Increased hepatocellular lipid droplets (HP:0006565)

Term ID:

6565

Name:

Increased hepatocellular lipid droplets

Synonym:

Definition:

An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.

Comments:

Reference:

HP:0006565

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hepatic steatosis (HP:0001397)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006565	HP:0006565	Increased hepatocellular lipid droplets	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0006565	HP:0006565	Increased hepatocellular lipid droplets	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040282 - Frequent	8
HP:0006565	HP:0006565	Increased hepatocellular lipid droplets	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0006565	HP:0006565	Increased hepatocellular lipid droplets	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0006565	HP:0006565	Increased hepatocellular lipid droplets	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.

Genes (5) :LRPPRC SAR1B SURF1 TRNN TRNS1

Diseases (3) :OMIM:220111 ORPHA:71 OMIM:220110

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