Human Phenotype Ontology 
Grandparent Node:
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Abnormal renal glomerulus morphology (HP:0000095)help
Parent Node:
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Glomerular sclerosis (HP:0000096)help
..Starting node
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Focal segmental glomerulosclerosis (HP:0000097)help
Term ID: 97
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: 
..expandGlobal glomerulosclerosis (HP:0004737) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000097HP:0000097Focal segmental glomerulosclerosis0ACTN4 CL E G H81603278Focal segmental glomerulosclerosis 1603278C0333497OMIM1308166604638
HP:0000097HP:0000097Focal segmental glomerulosclerosis0ANLN CL E G H54443616032Focal segmental glomerulosclerosis 8616032C4014993OMIM136914082616027
HP:0000097HP:0000097Focal segmental glomerulosclerosis0CD2AP CL E G H23607607832Focal segmental glomerulosclerosis 3, susceptibility to607832C1842982OMIM134114258604241
HP:0000097HP:0000097Focal segmental glomerulosclerosis0CLCN5 CL E G H1184308990Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis308990C1839874OMIM15182023300008
HP:0000097HP:0000097Focal segmental glomerulosclerosis0COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM127320233614647
HP:0000097HP:0000097Focal segmental glomerulosclerosis0COQ8B CL E G H79934615573Nephrotic syndrome, type 9615573C3809965OMIM123619041615567
HP:0000097HP:0000097Focal segmental glomerulosclerosis0CRB2 CL E G H286204616220Focal segmental glomerulosclerosis 9616220C4015555OMIM158518688609720
HP:0000097HP:0000097Focal segmental glomerulosclerosis0G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0000097HP:0000097Focal segmental glomerulosclerosis0INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1132523791610982
HP:0000097HP:0000097Focal segmental glomerulosclerosis0INF2 CL E G H64423613237Focal segmental glomerulosclerosis 5613237C2750475OMIM1132523791610982
HP:0000097HP:0000097Focal segmental glomerulosclerosis0MYO1E CL E G H4643614131Focal segmental glomerulosclerosis 6614131C3279905OMIM14477599601479
HP:0000097HP:0000097Focal segmental glomerulosclerosis0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM130226274612803
HP:0000097HP:0000097Focal segmental glomerulosclerosis0NPHS2 CL E G H7827600995Nephrotic syndrome, idiopathic, steroid-resistant600995CN034406OMIM144213394604766
HP:0000097HP:0000097Focal segmental glomerulosclerosis0NUP133 CL E G H55746618177NEPHROTIC SYNDROME, TYPE 18618177OMIM119918016607613
HP:0000097HP:0000097Focal segmental glomerulosclerosis0NUP160 CL E G H23279618178NEPHROTIC SYNDROME, TYPE 19618178OMIM121518017607614
HP:0000097HP:0000097Focal segmental glomerulosclerosis0NUP205 CL E G H23165616893Nephrotic syndrome, type 13616893C4225165OMIM140718658614352
HP:0000097HP:0000097Focal segmental glomerulosclerosis0NUP85 CL E G H79902618176NEPHROTIC SYNDROME, TYPE 17618176OMIM11298734170285
HP:0000097HP:0000097Focal segmental glomerulosclerosis0PAX2 CL E G H5076616002Focal segmental glomerulosclerosis 7616002C4014925OMIM14068616167409
HP:0000097HP:0000097Focal segmental glomerulosclerosis0PLCE1 CL E G H51196610725Nephrotic syndrome, type 3610725C1853124OMIM152817175608414
HP:0000097HP:0000097Focal segmental glomerulosclerosis0PTPRO CL E G H5800614196Nephrotic syndrome, type 6614196C3280100OMIM12789678600579
HP:0000097HP:0000097Focal segmental glomerulosclerosis0REN CL E G H5972613092Hyperuricemic nephropathy, familial juvenile, 2613092C2751310OMIM11539958179820
HP:0000097HP:0000097Focal segmental glomerulosclerosis0SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0000097HP:0000097Focal segmental glomerulosclerosis0SEC61A1 CL E G H29927617056Hyperuricemic nephropathy, familial juvenile, 4617056C4310741OMIM120118276609213
HP:0000097HP:0000097Focal segmental glomerulosclerosis0SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0000097HP:0000097Focal segmental glomerulosclerosis0SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM19034061602671
HP:0000097HP:0000097Focal segmental glomerulosclerosis0SLC37A4 CL E G H2542232240Phosphate transport defect232240C0342749OMIM19034061602671
HP:0000097HP:0000097Focal segmental glomerulosclerosis0SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM194211102606622
HP:0000097HP:0000097Focal segmental glomerulosclerosis0TRPC6 CL E G H7225603965Focal segmental glomerulosclerosis 2603965C1858915OMIM138912338603652
HP:0000097HP:0000097Focal segmental glomerulosclerosis0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM127418179610034
HP:0000097HP:0000097Focal segmental glomerulosclerosis0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0000097HP:0000097Focal segmental glomerulosclerosis0WT1 CL E G H7490194080Drash syndrome194080C0950121OMIM1137112796607102
HP:0000097HP:0000097Focal segmental glomerulosclerosis0WT1 CL E G H7490136680Frasier syndrome136680C0950122OMIM1137112796607102
HP:0000097HP:0000097Focal segmental glomerulosclerosis0WT1 CL E G H7490347Yorifuji Okuno syndromeORPHA1137112796607102
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000097HP:0000097Focal segmental glomerulosclerosis0ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM03086139605025
HP:0000097HP:0000097Focal segmental glomerulosclerosis0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM016056188601920
HP:0000097HP:0000097Focal segmental glomerulosclerosis0NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM024229914607617
HP:0000097HP:0000097Focal segmental glomerulosclerosis0NUP93 CL E G H9688616892Nephrotic syndrome, type 12616892C4225166OMIM020428958614351
HP:0000097HP:0000097Focal segmental glomerulosclerosis0WT1 CL E G H7490256370Diffuse mesangial sclerosis256370C0268747OMIM0137112796607102


Genes (33) :ACTN4 ANLN CD2AP CLCN5 COQ6 COQ8B CRB2 G6PC INF2 ITGA3 JAG1 MYO1E NARS2 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93 PAX2 PLCE1 PTPRO REN SCARB2 SEC61A1 SGPL1 SLC37A4 SMARCAL1 TRPC6 VPS33A WDR73 WT1

Diseases (38) :603278 616032 607832 308990 614650 615573 616220 232200 614455 613237 614748 118450 614131 616239 600995 616730 618177 618178 616893 618176 616892 616002 610725 614196 613092 254900 617056 617575 232220 232240 242900 603965 617303 251300 256370 194080 136680 347
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.