Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormal renal glomerulus morphology (HP:0000095)

Parent Node:
Glomerular sclerosis (HP:0000096)

..Starting node
..Focal segmental glomerulosclerosis (HP:0000097)

Term ID:

Name:

Focal segmental glomerulosclerosis

Synonym:

Focal and segmental glomerular sclerosis; Focal and segmental glomerulosclerosis; focal glomerulosclerosis

Definition:

Segmental accumulation of scar tissue in individual (but not all) glomeruli.

Comments:

Reference:

HP:0000097

Genes and Diseases:

Child Nodes:

Sister Nodes:

Global glomerulosclerosis (HP:0004737)

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:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1	HP:0040280 - Obligate	27
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	27
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	ANLN CL E G H	54443	14082	OMIM:616032	Focal segmental glomerulosclerosis 8	.	6
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	6
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	APOL1 CL E G H	8542	618	OMIM:612551	Focal segmental glomerulosclerosis 4, susceptibility to	.	3
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	3
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	4
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	3
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	CD2AP CL E G H	23607	14258	OMIM:607832	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3		105
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	105
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	.	112
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	161
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6	.	39
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	35
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	COQ8B CL E G H	79934	19041	OMIM:615573	Nephrotic syndrome, type 9	.	35
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	CRB2 CL E G H	286204	18688	OMIM:616220	Focal segmental glomerulosclerosis 9	.	12
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	12
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	DAAM2 CL E G H	23500	18143	OMIM:619263	NEPHROTIC SYNDROME, TYPE 24; NPHS24
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	4
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.	135
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	INF2 CL E G H	64423	23791	OMIM:613237	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5		135
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	135
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	KIRREL1 CL E G H	55243	15734	OMIM:619201	NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	LAMA5 CL E G H	3911	6485	OMIM:620049			5
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE		165
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	59
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	MYO1E CL E G H	4643	7599	OMIM:614131	Focal segmental glomerulosclerosis 6	.	3
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	3
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	241
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	69
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2	.	69
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	5
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11		5
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8	.	1
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	1
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18		1
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NUP160 CL E G H	23279	18017	OMIM:618178	Nephrotic syndrome, type 19	.
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	1
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NUP205 CL E G H	23165	18658	OMIM:616893	NEPHROTIC SYNDROME, TYPE 13; NPHS13		1
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17	.
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	5
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	NUP93 CL E G H	9688	28958	OMIM:616892	Nephrotic syndrome, type 12		5
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	PAX2 CL E G H	5076	8616	OMIM:616002	Focal segmental glomerulosclerosis 7	.	39
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	39
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	118
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3	.	118
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	2
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	PTPRO CL E G H	5800	9678	OMIM:614196	Nephrotic syndrome, type 6	.	2
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	REN CL E G H	5972	9958	OMIM:613092	Hyperuricemic nephropathy, familial juvenile, 2	.	25
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.	77
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.	2
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.	8
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040281 - Very frequent	74
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	1
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	TBC1D8B CL E G H	54885	24715	OMIM:301028	Nephrotic syndrome, type 20	.	1
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	TRPC6 CL E G H	7225	12338	OMIM:603965	Focal segmental glomerulosclerosis 2	.	107
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	107
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.	177
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome	HP:0040281 - Very frequent	177
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome		177
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent	177
HP:0000097	HP:0000097	Focal segmental glomerulosclerosis	0	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4	HP:0040283 - Occasional	177

Genes (69) :ACTN4 ANKFY1 ANLN APOL1 ARHGAP24 ARHGDIA CD2AP CLCN5 CLCNKB COL4A3 COQ2 COQ6 COQ8B COX1 COX2 COX3 CRB2 DAAM2 EMP2 G6PC1 GAPVD1 GON7 INF2 ITGA3 JAG1 KIRREL1 LAMA5 LMX1B MAGI2 MTX2 MYO1E NARS2 ND1 ND4 ND5 ND6 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 PAX2 PLCE1 PTPRO REN SCARB2 SEC61A1 SGPL1 SLC12A3 SLC37A4 SMARCAL1 TBC1D8B TPRKB TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRPC6 VPS33A WDR4 WDR73 WT1

Diseases (55) :OMIM:603278 ORPHA:656 OMIM:616032 OMIM:612551 OMIM:607832 OMIM:308990 ORPHA:358 OMIM:607426 OMIM:614650 OMIM:615573 ORPHA:550 OMIM:616220 OMIM:619263 OMIM:232200 OMIM:619603 OMIM:614455 OMIM:613237 OMIM:614748 OMIM:118450 OMIM:619201 OMIM:620049 OMIM:256020 OMIM:619127 OMIM:614131 OMIM:616239 OMIM:600995 OMIM:618348 OMIM:616730 OMIM:618349 OMIM:618177 OMIM:618178 OMIM:616893 OMIM:618176 OMIM:616892 OMIM:616002 OMIM:610725 OMIM:614196 OMIM:613092 OMIM:254900 OMIM:617056 OMIM:617575 OMIM:232220 OMIM:232240 OMIM:242900 ORPHA:1830 OMIM:301028 OMIM:617731 OMIM:603965 OMIM:617303 OMIM:618347 OMIM:251300 OMIM:194080 ORPHA:347 OMIM:136680 OMIM:256370

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen