Human Phenotype Ontology 
Grandparent Node:
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Abnormal nephron morphology (HP:0012575)help
Grandparent Node:
expand
Abnormal renal corpuscle morphology (HP:0031263)help
Parent Node:
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Abnormal renal glomerulus morphology (HP:0000095)help
..Starting node
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Glomerular sclerosis (HP:0000096)help
Term ID: 96
Name: Glomerular sclerosis
Synonym: Glomerulosclerosis; Renal glomerular fibrosis
Definition: Accumulation of scar tissue within the glomerulus.
Comments:
Reference: HP:0000096
Genes and Diseases:
 
       Child Nodes:
........expandFocal segmental glomerulosclerosis (HP:0000097) help
........expandGlobal glomerulosclerosis (HP:0004737) help

 Sister Nodes: 
..expandAbnormal glomerular capillary morphology (HP:0025006) help
..expandAbnormal glomerular mesangium morphology (HP:0001966) help
..expandGlomerular basement membrane lamellation (HP:0030034) help
..expandGlomerular deposits (HP:0030949) help
..expandGlomerular endocapillary hypercellularity (HP:0025363) help
..expandGlomerular extracapillary hypercellularity (HP:0025364) help
..expandGlomerulomegaly (HP:0030162) help
..expandGlomerulonephritis (HP:0000099) help
..expandGlomerulopathy (HP:0100820) help
..expandLobular glomerulopathy (HP:0008636) help
..expandMultiple glomerular cysts (HP:0100611) help
..expandRenal juxtaglomerular cell hypertrophy/hyperplasia (HP:0000111) help
..expandThickened glomerular basement membrane (HP:0004722) help
..expandThin glomerular basement membrane (HP:0012577) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000096HP:0000096Glomerular sclerosis0ACTN4 CL E G H81166OMIM:603278Focal segmental glomerulosclerosis 127
HP:0000096HP:0000096Glomerular sclerosis0ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndrome27
HP:0000096HP:0000096Glomerular sclerosis0ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000096HP:0000096Glomerular sclerosis0ANLN CL E G H5444314082OMIM:616032Focal segmental glomerulosclerosis 86
HP:0000096HP:0000096Glomerular sclerosis0ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndrome6
HP:0000096HP:0000096Glomerular sclerosis0APOL1 CL E G H8542618OMIM:612551Focal segmental glomerulosclerosis 4, susceptibility to3
HP:0000096HP:0000096Glomerular sclerosis0APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0000096HP:0000096Glomerular sclerosis0ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndrome4
HP:0000096HP:0000096Glomerular sclerosis0ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0000096HP:0000096Glomerular sclerosis0BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness53
HP:0000096HP:0000096Glomerular sclerosis0CD2AP CL E G H2360714258OMIM:607832FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3105
HP:0000096HP:0000096Glomerular sclerosis0CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndrome105
HP:0000096HP:0000096Glomerular sclerosis0CLCN5 CL E G H11842023OMIM:310468Nephrolithiasis, type I.112
HP:0000096HP:0000096Glomerular sclerosis0CLCN5 CL E G H11842023OMIM:308990Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis112
HP:0000096HP:0000096Glomerular sclerosis0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0000096HP:0000096Glomerular sclerosis0COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndrome161
HP:0000096HP:0000096Glomerular sclerosis0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0000096HP:0000096Glomerular sclerosis0COQ6 CL E G H5100420233OMIM:614650Coenzyme Q10 deficiency, primary, 639
HP:0000096HP:0000096Glomerular sclerosis0COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndrome35
HP:0000096HP:0000096Glomerular sclerosis0COQ8B CL E G H7993419041OMIM:615573Nephrotic syndrome, type 935
HP:0000096HP:0000096Glomerular sclerosis0COX1 CL E G H45127419ORPHA:550MELAS
HP:0000096HP:0000096Glomerular sclerosis0COX2 CL E G H45137421ORPHA:550MELAS
HP:0000096HP:0000096Glomerular sclerosis0COX3 CL E G H45147422ORPHA:550MELAS
HP:0000096HP:0000096Glomerular sclerosis0CRB2 CL E G H28620418688OMIM:616220Focal segmental glomerulosclerosis 912
HP:0000096HP:0000096Glomerular sclerosis0CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndrome12
HP:0000096HP:0000096Glomerular sclerosis0DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000096HP:0000096Glomerular sclerosis0DAAM2 CL E G H2350018143OMIM:619263NEPHROTIC SYNDROME, TYPE 24; NPHS24
HP:0000096HP:0000096Glomerular sclerosis0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0000096HP:0000096Glomerular sclerosis0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent44
HP:0000096HP:0000096Glomerular sclerosis0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0000096HP:0000096Glomerular sclerosis0EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndrome4
HP:0000096HP:0000096Glomerular sclerosis0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent112
HP:0000096HP:0000096Glomerular sclerosis0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I.107
HP:0000096HP:0000096Glomerular sclerosis0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent301
HP:0000096HP:0000096Glomerular sclerosis0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia
HP:0000096HP:0000096Glomerular sclerosis0GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000096HP:0000096Glomerular sclerosis0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000096HP:0000096Glomerular sclerosis0INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate E135
HP:0000096HP:0000096Glomerular sclerosis0INF2 CL E G H6442323791OMIM:613237FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5135
HP:0000096HP:0000096Glomerular sclerosis0INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndrome135
HP:0000096HP:0000096Glomerular sclerosis0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital6
HP:0000096HP:0000096Glomerular sclerosis0ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional124
HP:0000096HP:0000096Glomerular sclerosis0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0000096HP:0000096Glomerular sclerosis0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent202
HP:0000096HP:0000096Glomerular sclerosis0KIRREL1 CL E G H5524315734OMIM:619201NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0000096HP:0000096Glomerular sclerosis0LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked.
HP:0000096HP:0000096Glomerular sclerosis0LAMA5 CL E G H39116485OMIM:6200495
HP:0000096HP:0000096Glomerular sclerosis0LMX1B CL E G H40106654OMIM:256020NAIL-PATELLA-LIKE RENAL DISEASE165
HP:0000096HP:0000096Glomerular sclerosis0MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndrome59
HP:0000096HP:0000096Glomerular sclerosis0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent84
HP:0000096HP:0000096Glomerular sclerosis0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent4
HP:0000096HP:0000096Glomerular sclerosis0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000096HP:0000096Glomerular sclerosis0MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 2.1
HP:0000096HP:0000096Glomerular sclerosis0MYO1E CL E G H46437599OMIM:614131Focal segmental glomerulosclerosis 63
HP:0000096HP:0000096Glomerular sclerosis0MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0000096HP:0000096Glomerular sclerosis0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000096HP:0000096Glomerular sclerosis0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 2434
HP:0000096HP:0000096Glomerular sclerosis0ND1 CL E G H45357455ORPHA:550MELAS
HP:0000096HP:0000096Glomerular sclerosis0ND4 CL E G H45387459ORPHA:550MELAS
HP:0000096HP:0000096Glomerular sclerosis0ND5 CL E G H45407461ORPHA:550MELAS
HP:0000096HP:0000096Glomerular sclerosis0ND6 CL E G H45417462ORPHA:550MELAS
HP:0000096HP:0000096Glomerular sclerosis0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent1952
HP:0000096HP:0000096Glomerular sclerosis0NOS1AP CL E G H972216859OMIM:619155NEPHROTIC SYNDROME, TYPE 22; NPHS224
HP:0000096HP:0000096Glomerular sclerosis0NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndrome241
HP:0000096HP:0000096Glomerular sclerosis0NPHS1 CL E G H48687908OMIM:256300Nephrotic syndrome, type 1.241
HP:0000096HP:0000096Glomerular sclerosis0NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndrome69
HP:0000096HP:0000096Glomerular sclerosis0NPHS2 CL E G H782713394OMIM:600995Nephrotic syndrome, type 269
HP:0000096HP:0000096Glomerular sclerosis0NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0000096HP:0000096Glomerular sclerosis0NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndrome5
HP:0000096HP:0000096Glomerular sclerosis0NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 115
HP:0000096HP:0000096Glomerular sclerosis0NUP133 CL E G H5574618016OMIM:618349Galloway-Mowat syndrome 81
HP:0000096HP:0000096Glomerular sclerosis0NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0000096HP:0000096Glomerular sclerosis0NUP133 CL E G H5574618016OMIM:618177NEPHROTIC SYNDROME, TYPE 18; NPHS181
HP:0000096HP:0000096Glomerular sclerosis0NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000096HP:0000096Glomerular sclerosis0NUP160 CL E G H2327918017OMIM:618178Nephrotic syndrome, type 19
HP:0000096HP:0000096Glomerular sclerosis0NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0000096HP:0000096Glomerular sclerosis0NUP205 CL E G H2316518658OMIM:616893NEPHROTIC SYNDROME, TYPE 13; NPHS131
HP:0000096HP:0000096Glomerular sclerosis0NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000096HP:0000096Glomerular sclerosis0NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0000096HP:0000096Glomerular sclerosis0NUP85 CL E G H799028734OMIM:618176Nephrotic syndrome, type 17
HP:0000096HP:0000096Glomerular sclerosis0NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndrome5
HP:0000096HP:0000096Glomerular sclerosis0NUP93 CL E G H968828958OMIM:616892Nephrotic syndrome, type 125
HP:0000096HP:0000096Glomerular sclerosis0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0000096HP:0000096Glomerular sclerosis0PAX2 CL E G H50768616OMIM:616002Focal segmental glomerulosclerosis 739
HP:0000096HP:0000096Glomerular sclerosis0PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndrome39
HP:0000096HP:0000096Glomerular sclerosis0PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndrome118
HP:0000096HP:0000096Glomerular sclerosis0PLCE1 CL E G H5119617175OMIM:610725Nephrotic syndrome, type 3118
HP:0000096HP:0000096Glomerular sclerosis0PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional759
HP:0000096HP:0000096Glomerular sclerosis0PTPRO CL E G H58009678ORPHA:656Genetic steroid-resistant nephrotic syndrome2
HP:0000096HP:0000096Glomerular sclerosis0PTPRO CL E G H58009678OMIM:614196Nephrotic syndrome, type 62
HP:0000096HP:0000096Glomerular sclerosis0REN CL E G H59729958OMIM:613092Hyperuricemic nephropathy, familial juvenile, 225
HP:0000096HP:0000096Glomerular sclerosis0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent572
HP:0000096HP:0000096Glomerular sclerosis0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent572
HP:0000096HP:0000096Glomerular sclerosis0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000096HP:0000096Glomerular sclerosis0SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure77
HP:0000096HP:0000096Glomerular sclerosis0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent304
HP:0000096HP:0000096Glomerular sclerosis0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent55
HP:0000096HP:0000096Glomerular sclerosis0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent237
HP:0000096HP:0000096Glomerular sclerosis0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent237
HP:0000096HP:0000096Glomerular sclerosis0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent147
HP:0000096HP:0000096Glomerular sclerosis0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent129
HP:0000096HP:0000096Glomerular sclerosis0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent129
HP:0000096HP:0000096Glomerular sclerosis0SEC61A1 CL E G H2992718276OMIM:617056Tubulointerstitial kidney disease, autosomal dominant, 52
HP:0000096HP:0000096Glomerular sclerosis0SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 148
HP:0000096HP:0000096Glomerular sclerosis0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0000096HP:0000096Glomerular sclerosis0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0000096HP:0000096Glomerular sclerosis0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib110
HP:0000096HP:0000096Glomerular sclerosis0SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic110
HP:0000096HP:0000096Glomerular sclerosis0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0000096HP:0000096Glomerular sclerosis0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasia74
HP:0000096HP:0000096Glomerular sclerosis0TBC1D8B CL E G H5488524715ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0000096HP:0000096Glomerular sclerosis0TBC1D8B CL E G H5488524715OMIM:301028Nephrotic syndrome, type 201
HP:0000096HP:0000096Glomerular sclerosis0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent131
HP:0000096HP:0000096Glomerular sclerosis0TP53RK CL E G H11285816197OMIM:617730Galloway-Mowat syndrome 4.
HP:0000096HP:0000096Glomerular sclerosis0TPRKB CL E G H5100224259OMIM:617731Galloway-Mowat syndrome 5.
HP:0000096HP:0000096Glomerular sclerosis0TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040282 - Frequent56
HP:0000096HP:0000096Glomerular sclerosis0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000096HP:0000096Glomerular sclerosis0TRNF CL E G H45587481ORPHA:550MELAS
HP:0000096HP:0000096Glomerular sclerosis0TRNH CL E G H45647487ORPHA:550MELAS
HP:0000096HP:0000096Glomerular sclerosis0TRNL1 CL E G H45677490ORPHA:550MELAS
HP:0000096HP:0000096Glomerular sclerosis0TRNQ CL E G H45727495ORPHA:550MELAS
HP:0000096HP:0000096Glomerular sclerosis0TRNS1 CL E G H45747497ORPHA:550MELAS
HP:0000096HP:0000096Glomerular sclerosis0TRNS2 CL E G H45757498ORPHA:550MELAS
HP:0000096HP:0000096Glomerular sclerosis0TRNW CL E G H45787501ORPHA:550MELAS
HP:0000096HP:0000096Glomerular sclerosis0TRPC6 CL E G H722512338OMIM:603965Focal segmental glomerulosclerosis 2107
HP:0000096HP:0000096Glomerular sclerosis0TRPC6 CL E G H722512338ORPHA:656Genetic steroid-resistant nephrotic syndrome107
HP:0000096HP:0000096Glomerular sclerosis0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent490
HP:0000096HP:0000096Glomerular sclerosis0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent490
HP:0000096HP:0000096Glomerular sclerosis0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0000096HP:0000096Glomerular sclerosis0WDR19 CL E G H5772818340OMIM:614377Nephronophthisis 1395
HP:0000096HP:0000096Glomerular sclerosis0WDR19 CL E G H5772818340OMIM:616307Senior-Loken syndrome 895
HP:0000096HP:0000096Glomerular sclerosis0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0000096HP:0000096Glomerular sclerosis0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0000096HP:0000096Glomerular sclerosis0WT1 CL E G H749012796OMIM:194080Denys-Drash syndrome177
HP:0000096HP:0000096Glomerular sclerosis0WT1 CL E G H749012796ORPHA:347Frasier syndrome177
HP:0000096HP:0000096Glomerular sclerosis0WT1 CL E G H749012796OMIM:136680Frasier syndrome177
HP:0000096HP:0000096Glomerular sclerosis0WT1 CL E G H749012796ORPHA:656Genetic steroid-resistant nephrotic syndrome177
HP:0000096HP:0000096Glomerular sclerosis0WT1 CL E G H749012796OMIM:256370Nephrotic syndrome, type 4177
HP:0000096HP:0033495Segmental glomerulosclerosis1 CL E G H
HP:0000096HP:0000097Focal segmental glomerulosclerosis1ACTN4 CL E G H81166OMIM:603278Focal segmental glomerulosclerosis 1HP:0040280 - Obligate27
HP:0000096HP:0000097Focal segmental glomerulosclerosis1ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent27
HP:0000096HP:0000097Focal segmental glomerulosclerosis1ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000096HP:0000097Focal segmental glomerulosclerosis1ANLN CL E G H5444314082OMIM:616032Focal segmental glomerulosclerosis 8.6
HP:0000096HP:0000097Focal segmental glomerulosclerosis1ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent6
HP:0000096HP:0000097Focal segmental glomerulosclerosis1APOL1 CL E G H8542618OMIM:612551Focal segmental glomerulosclerosis 4, susceptibility to.3
HP:0000096HP:0000097Focal segmental glomerulosclerosis1APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent3
HP:0000096HP:0000097Focal segmental glomerulosclerosis1ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent4
HP:0000096HP:0000097Focal segmental glomerulosclerosis1ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent3
HP:0000096HP:0004737Global glomerulosclerosis1BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness.53
HP:0000096HP:0000097Focal segmental glomerulosclerosis1CD2AP CL E G H2360714258OMIM:607832FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3105
HP:0000096HP:0000097Focal segmental glomerulosclerosis1CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent105
HP:0000096HP:0000097Focal segmental glomerulosclerosis1CLCN5 CL E G H11842023OMIM:308990Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis.112
HP:0000096HP:0000097Focal segmental glomerulosclerosis1CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0000096HP:0000097Focal segmental glomerulosclerosis1COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent161
HP:0000096HP:0000097Focal segmental glomerulosclerosis1COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0000096HP:0000097Focal segmental glomerulosclerosis1COQ6 CL E G H5100420233OMIM:614650Coenzyme Q10 deficiency, primary, 6.39
HP:0000096HP:0000097Focal segmental glomerulosclerosis1COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent35
HP:0000096HP:0000097Focal segmental glomerulosclerosis1COQ8B CL E G H7993419041OMIM:615573Nephrotic syndrome, type 9.35
HP:0000096HP:0000097Focal segmental glomerulosclerosis1COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0000096HP:0000097Focal segmental glomerulosclerosis1COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0000096HP:0000097Focal segmental glomerulosclerosis1COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0000096HP:0000097Focal segmental glomerulosclerosis1CRB2 CL E G H28620418688OMIM:616220Focal segmental glomerulosclerosis 9.12
HP:0000096HP:0000097Focal segmental glomerulosclerosis1CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent12
HP:0000096HP:0000097Focal segmental glomerulosclerosis1DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000096HP:0000097Focal segmental glomerulosclerosis1DAAM2 CL E G H2350018143OMIM:619263NEPHROTIC SYNDROME, TYPE 24; NPHS24
HP:0000096HP:0000097Focal segmental glomerulosclerosis1EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent4
HP:0000096HP:0000097Focal segmental glomerulosclerosis1G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0000096HP:0000097Focal segmental glomerulosclerosis1GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000096HP:0000097Focal segmental glomerulosclerosis1GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000096HP:0000097Focal segmental glomerulosclerosis1INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate E.135
HP:0000096HP:0000097Focal segmental glomerulosclerosis1INF2 CL E G H6442323791OMIM:613237FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5135
HP:0000096HP:0000097Focal segmental glomerulosclerosis1INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent135
HP:0000096HP:0000097Focal segmental glomerulosclerosis1ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital6
HP:0000096HP:0000097Focal segmental glomerulosclerosis1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0000096HP:0000097Focal segmental glomerulosclerosis1KIRREL1 CL E G H5524315734OMIM:619201NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0000096HP:0000097Focal segmental glomerulosclerosis1LAMA5 CL E G H39116485OMIM:6200495
HP:0000096HP:0000097Focal segmental glomerulosclerosis1LMX1B CL E G H40106654OMIM:256020NAIL-PATELLA-LIKE RENAL DISEASE165
HP:0000096HP:0000097Focal segmental glomerulosclerosis1MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent59
HP:0000096HP:0000097Focal segmental glomerulosclerosis1MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000096HP:0000097Focal segmental glomerulosclerosis1MYO1E CL E G H46437599OMIM:614131Focal segmental glomerulosclerosis 6.3
HP:0000096HP:0000097Focal segmental glomerulosclerosis1MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent3
HP:0000096HP:0004737Global glomerulosclerosis1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0000096HP:0000097Focal segmental glomerulosclerosis1ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0000096HP:0000097Focal segmental glomerulosclerosis1ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0000096HP:0000097Focal segmental glomerulosclerosis1ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0000096HP:0000097Focal segmental glomerulosclerosis1ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent241
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent69
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NPHS2 CL E G H782713394OMIM:600995Nephrotic syndrome, type 2.69
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent5
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 115
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NUP133 CL E G H5574618016OMIM:618349Galloway-Mowat syndrome 8.1
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent1
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NUP133 CL E G H5574618016OMIM:618177NEPHROTIC SYNDROME, TYPE 18; NPHS181
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NUP160 CL E G H2327918017OMIM:618178Nephrotic syndrome, type 19.
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent1
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NUP205 CL E G H2316518658OMIM:616893NEPHROTIC SYNDROME, TYPE 13; NPHS131
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NUP85 CL E G H799028734OMIM:618176Nephrotic syndrome, type 17.
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent5
HP:0000096HP:0000097Focal segmental glomerulosclerosis1NUP93 CL E G H968828958OMIM:616892Nephrotic syndrome, type 125
HP:0000096HP:0000097Focal segmental glomerulosclerosis1PAX2 CL E G H50768616OMIM:616002Focal segmental glomerulosclerosis 7.39
HP:0000096HP:0000097Focal segmental glomerulosclerosis1PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent39
HP:0000096HP:0000097Focal segmental glomerulosclerosis1PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent118
HP:0000096HP:0000097Focal segmental glomerulosclerosis1PLCE1 CL E G H5119617175OMIM:610725Nephrotic syndrome, type 3.118
HP:0000096HP:0000097Focal segmental glomerulosclerosis1PTPRO CL E G H58009678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent2
HP:0000096HP:0000097Focal segmental glomerulosclerosis1PTPRO CL E G H58009678OMIM:614196Nephrotic syndrome, type 6.2
HP:0000096HP:0000097Focal segmental glomerulosclerosis1REN CL E G H59729958OMIM:613092Hyperuricemic nephropathy, familial juvenile, 2.25
HP:0000096HP:0000097Focal segmental glomerulosclerosis1SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure.77
HP:0000096HP:0000097Focal segmental glomerulosclerosis1SEC61A1 CL E G H2992718276OMIM:617056Tubulointerstitial kidney disease, autosomal dominant, 5.2
HP:0000096HP:0000097Focal segmental glomerulosclerosis1SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 14.8
HP:0000096HP:0000097Focal segmental glomerulosclerosis1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0000096HP:0000097Focal segmental glomerulosclerosis1SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110
HP:0000096HP:0000097Focal segmental glomerulosclerosis1SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic.110
HP:0000096HP:0000097Focal segmental glomerulosclerosis1SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0000096HP:0000097Focal segmental glomerulosclerosis1SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040281 - Very frequent74
HP:0000096HP:0000097Focal segmental glomerulosclerosis1TBC1D8B CL E G H5488524715ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent1
HP:0000096HP:0000097Focal segmental glomerulosclerosis1TBC1D8B CL E G H5488524715OMIM:301028Nephrotic syndrome, type 20.1
HP:0000096HP:0000097Focal segmental glomerulosclerosis1TPRKB CL E G H5100224259OMIM:617731Galloway-Mowat syndrome 5
HP:0000096HP:0000097Focal segmental glomerulosclerosis1TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0000096HP:0000097Focal segmental glomerulosclerosis1TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0000096HP:0000097Focal segmental glomerulosclerosis1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0000096HP:0000097Focal segmental glomerulosclerosis1TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0000096HP:0000097Focal segmental glomerulosclerosis1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0000096HP:0000097Focal segmental glomerulosclerosis1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0000096HP:0000097Focal segmental glomerulosclerosis1TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0000096HP:0000097Focal segmental glomerulosclerosis1TRPC6 CL E G H722512338OMIM:603965Focal segmental glomerulosclerosis 2.107
HP:0000096HP:0000097Focal segmental glomerulosclerosis1TRPC6 CL E G H722512338ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent107
HP:0000096HP:0000097Focal segmental glomerulosclerosis1VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0000096HP:0004737Global glomerulosclerosis1WDR19 CL E G H5772818340OMIM:614377Nephronophthisis 1395
HP:0000096HP:0004737Global glomerulosclerosis1WDR19 CL E G H5772818340OMIM:616307Senior-Loken syndrome 895
HP:0000096HP:0000097Focal segmental glomerulosclerosis1WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0000096HP:0000097Focal segmental glomerulosclerosis1WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0000096HP:0000097Focal segmental glomerulosclerosis1WT1 CL E G H749012796OMIM:194080Denys-Drash syndrome.177
HP:0000096HP:0000097Focal segmental glomerulosclerosis1WT1 CL E G H749012796ORPHA:347Frasier syndromeHP:0040281 - Very frequent177
HP:0000096HP:0000097Focal segmental glomerulosclerosis1WT1 CL E G H749012796OMIM:136680Frasier syndrome177
HP:0000096HP:0000097Focal segmental glomerulosclerosis1WT1 CL E G H749012796ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040282 - Frequent177
HP:0000096HP:0000097Focal segmental glomerulosclerosis1WT1 CL E G H749012796OMIM:256370Nephrotic syndrome, type 4HP:0040283 - Occasional177
HP:0000096HP:0033498Segmental glomerulosclerosis away from the vascular and tubular poles2 CL E G H
HP:0000096HP:0033497Tip variant segmental glomerulosclerosis2 CL E G H
HP:0000096HP:0033496Perihilar segmental glomerulosclerosis2 CL E G H
HP:0000096HP:0033321Glomerular obsolescence2 CL E G H


Genes (101) :ACTN4 ANKFY1 ANLN APOL1 ARHGAP24 ARHGDIA BSND CD2AP CLCN5 CLCNKB COL4A3 COQ2 COQ6 COQ8B COX1 COX2 COX3 CRB2 DAAM2 DLST DNMT3A ELP1 EMP2 EPAS1 FAH FH G6PC1 GAPVD1 GON7 INF2 ITGA3 ITGB4 JAG1 KIF1B KIRREL1 LAGE3 LAMA5 LMX1B MAGI2 MAX MDH2 MTX2 MUC1 MYO1E NAA10 NARS2 ND1 ND4 ND5 ND6 NF1 NOS1AP NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OSGEP PAX2 PLCE1 PLEC PTPRO REN RET RNU7-1 SCARB2 SDHA SDHAF2 SDHB SDHC SDHD SEC61A1 SGPL1 SLC12A3 SLC25A11 SLC37A4 SMARCAL1 TBC1D8B TMEM127 TP53RK TPRKB TREX1 TRIM8 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRPC6 VHL VPS33A WDR19 WDR4 WDR73 WT1

Diseases (74) :OMIM:603278 ORPHA:656 OMIM:616032 OMIM:612551 OMIM:602522 OMIM:607832 OMIM:310468 OMIM:308990 ORPHA:358 OMIM:607426 OMIM:614650 OMIM:615573 ORPHA:550 OMIM:616220 OMIM:619263 ORPHA:29072 ORPHA:276621 OMIM:223900 OMIM:276700 OMIM:232200 OMIM:619603 OMIM:614455 OMIM:613237 OMIM:614748 ORPHA:158684 OMIM:118450 OMIM:619201 OMIM:301006 OMIM:620049 OMIM:256020 OMIM:619127 OMIM:174000 OMIM:614131 OMIM:300855 OMIM:616239 OMIM:619155 OMIM:256300 OMIM:600995 OMIM:618348 OMIM:616730 OMIM:618349 OMIM:618177 OMIM:618178 OMIM:616893 OMIM:618176 OMIM:616892 OMIM:617729 OMIM:616002 OMIM:610725 OMIM:614196 OMIM:613092 OMIM:619487 OMIM:254900 OMIM:617056 OMIM:617575 OMIM:232220 OMIM:232240 OMIM:242900 ORPHA:1830 OMIM:301028 OMIM:617730 OMIM:617731 ORPHA:247691 OMIM:619428 OMIM:603965 OMIM:617303 OMIM:614377 OMIM:616307 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.