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 renal physiology (HP:0012211)

Parent Node:
Abnormal glomerular filtration rate (HP:0012212)

..Starting node
..Decreased glomerular filtration rate (HP:0012213)

Term ID:

12213

Name:

Decreased glomerular filtration rate

Synonym:

Decreased GFR; Impaired renal creatinine clearance; Reduced creatinine clearance

Definition:

An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.

Comments:

Reference:

HP:0012213

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased glomerular filtration rate (HP:0012214)

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:0012213	HP:0012213	Decreased glomerular filtration rate	0	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1	HP:0040282 - Frequent	260
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	93
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	5
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2	.
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease	.
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	6
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria		77
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	148
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.	6
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	342
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent	106
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040282 - Frequent	1
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional	56
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040283 - Occasional	57
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0012213	HP:0012213	Decreased glomerular filtration rate	0	UMOD CL E G H	7369	12559	OMIM:162000	Hyperuricemic nephropathy, familial juvenile, 1		66

Genes (26) :AGXT ALG5 ALG9 BICC1 BSND CASR CLCNKA CLCNKB CYB561 DNAJB11 G6PC1 GANAB HGD IFT140 ITGA3 MUC1 PAX2 PBX1 PKD1 PKD2 PUS3 SLC22A12 SLC2A9 SLC37A4 SLC7A7 UMOD

Diseases (18) :ORPHA:93598 ORPHA:730 OMIM:602522 OMIM:601198 OMIM:613090 OMIM:618182 OMIM:618061 OMIM:232200 OMIM:203500 OMIM:614748 OMIM:174000 ORPHA:97362 ORPHA:488627 ORPHA:94088 OMIM:232220 OMIM:232240 ORPHA:470 OMIM:162000

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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