Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 the kidney (HP:0000077)

Parent Node:
Abnormal renal morphology (HP:0012210)

..Starting node
..Renal steatosis (HP:0000799)

Term ID:

799

Name:

Renal steatosis

Synonym:

Fatty kidney

Definition:

Abnormal fat accumulation in the kidneys.

Comments:

Reference:

HP:0000799

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal localization of kidney (HP:0100542)

Abnormal nephron morphology (HP:0012575)

Abnormal renal artery morphology (HP:0008776)

Abnormal renal calyx morphology (HP:0011130)

Abnormal renal collecting system morphology (HP:0004742)

Abnormal renal cortex morphology (HP:0011035)

Abnormal renal medulla morphology (HP:0100957)

Abnormal renal pelvis morphology (HP:0010944)

Decreased renal parenchymal thickness (HP:0025327)

Enlarged kidney (HP:0000105)

Hyperechogenic kidneys (HP:0004719)

Nephrocalcinosis (HP:0000121)

Nephrogenic rest (HP:0100880)

Nephrolithiasis (HP:0000787)

Nephrosclerosis (HP:0009741)

Perinephric fluid collection (HP:0031226)

Perirenal hematoma (HP:0030171)

Renal amyloidosis (HP:0001917)

Renal atrophy (HP:0012585)

Renal cyst (HP:0000107)

Renal duplication (HP:0000075)

Renal dysplasia (HP:0000110)

Renal fibrosis (HP:0030760)

Renal hypoplasia/aplasia (HP:0008678)

Renal malrotation (HP:0004712)

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:0000799	HP:0000799	Renal steatosis	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	67
HP:0000799	HP:0000799	Renal steatosis	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	76
HP:0000799	HP:0000799	Renal steatosis	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	356
HP:0000799	HP:0000799	Renal steatosis	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040283 - Occasional	39
HP:0000799	HP:0000799	Renal steatosis	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0000799	HP:0000799	Renal steatosis	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	2157
HP:0000799	HP:0000799	Renal steatosis	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	73
HP:0000799	HP:0000799	Renal steatosis	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.	53
HP:0000799	HP:0000799	Renal steatosis	0	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial	.	6
HP:0000799	HP:0000799	Renal steatosis	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	178
HP:0000799	HP:0000799	Renal steatosis	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50

Genes (11) :ABCG5 ABCG8 APOB APOE EYA1 LDLR LDLRAP1 PCK1 PCK2 PCSK9 SIX1

Diseases (5) :ORPHA:391665 ORPHA:412 OMIM:113650 OMIM:261680 OMIM:261650

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

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