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:
Abnormal nephron morphology (HP:0012575)

Grandparent Node:
Abnormal renal corpuscle morphology (HP:0031263)

Parent Node:
Abnormal renal glomerulus morphology (HP:0000095)

..Starting node
..Renal juxtaglomerular cell hypertrophy/hyperplasia (HP:0000111)

Term ID:

111

Name:

Renal juxtaglomerular cell hypertrophy/hyperplasia

Synonym:

Definition:

Increased number and size of the juxtaglomerular cells.

Comments:

Reference:

HP:0000111

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal glomerular capillary morphology (HP:0025006)

Abnormal glomerular mesangium morphology (HP:0001966)

Glomerular basement membrane lamellation (HP:0030034)

Glomerular deposits (HP:0030949)

Glomerular endocapillary hypercellularity (HP:0025363)

Glomerular extracapillary hypercellularity (HP:0025364)

Glomerular sclerosis (HP:0000096)

Glomerulomegaly (HP:0030162)

Glomerulonephritis (HP:0000099)

Glomerulopathy (HP:0100820)

Lobular glomerulopathy (HP:0008636)

Multiple glomerular cysts (HP:0100611)

Thickened glomerular basement membrane (HP:0004722)

Thin glomerular basement membrane (HP:0012577)

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:0000111	HP:0000111	Renal juxtaglomerular cell hypertrophy/hyperplasia	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0000111	HP:0000111	Renal juxtaglomerular cell hypertrophy/hyperplasia	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75

Genes (2) :KCNJ1 SLC12A1

Diseases (2) :OMIM:241200 OMIM:601678

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