Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the kidney (HP:0000077)help
Grandparent Node:
expand
Abnormality of the urinary system physiology (HP:0011277)help
Parent Node:
expand
Abnormal renal physiology (HP:0012211)help
..Starting node
..expand
Nephrotic syndrome (HP:0000100)help
Term ID: 100
Name: Nephrotic syndrome
Synonym: Nephrosis
Definition: Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Comments:
Reference: HP:0000100
Genes and Diseases:
 
       Child Nodes:
........expandCongenital nephrotic syndrome (HP:0008677) help
........expandTransient nephrotic syndrome (HP:0008695) help
........expandSteroid-resistant nephrotic syndrome (HP:0012588) help
........expandMultidrug-resistant nephrotic syndrome (HP:0012589) help

 Sister Nodes: 
..expandAbnormal glomerular filtration rate (HP:0012212) help
..expandAbnormality of renal excretion (HP:0011036) help
..expandAbnormality of renal resorption (HP:0011038) help
..expandElevated alkaline phosphatase of renal origin (HP:0010680) help
..expandHematuria (HP:0000790) help
..expandHemolytic-uremic syndrome (HP:0005575) help
..expandImpaired urinary acidification (HP:0031033) help
..expandIsothenuria (HP:0030036) help
..expandLow alkaline phosphatase of renal origin (HP:0010685) help
..expandNephritis (HP:0000123) help
..expandNephropathy (HP:0000112) help
..expandRenal insufficiency (HP:0000083) help
..expandRenal tubular dysfunction (HP:0000124) help
..expandRenovascular hypertension (HP:0100817) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000100HP:0000100Nephrotic syndrome0ANLN CL E G H54443616032Focal segmental glomerulosclerosis 8616032C4014993OMIM154814082616027
HP:0000100HP:0000100Nephrotic syndrome0APOA1 CL E G H335105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM17776600107680
HP:0000100HP:0000100Nephrotic syndrome0ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM1336678601925
HP:0000100HP:0000100Nephrotic syndrome0B2M CL E G H567105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM1424914109700
HP:0000100HP:0000100Nephrotic syndrome0C3 CL E G H718613779Complement component 3 deficiency, autosomal recessive613779C3151071OMIM11301981318120700
HP:0000100HP:0000100Nephrotic syndrome0CASP10 CL E G H843603909Autoimmune lymphoproliferative syndrome, type 2A603909C1858968OMIM192361500601762
HP:0000100HP:0000100Nephrotic syndrome0CCND1 CL E G H59529073ORPHA17101582168461
HP:0000100HP:0000100Nephrotic syndrome0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000100HP:0000100Nephrotic syndrome0COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM12726132204120070
HP:0000100HP:0000100Nephrotic syndrome0COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM12726132204120070
HP:0000100HP:0000100Nephrotic syndrome0COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM12336882206120131
HP:0000100HP:0000100Nephrotic syndrome0COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM1100013572207303630
HP:0000100HP:0000100Nephrotic syndrome0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13310225223609825
HP:0000100HP:0000100Nephrotic syndrome0COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM1168220233614647
HP:0000100HP:0000100Nephrotic syndrome0COQ8B CL E G H79934615573Nephrotic syndrome, type 9615573C3809965OMIM1288519041615567
HP:0000100HP:0000100Nephrotic syndrome0CRB2 CL E G H286204616220Focal segmental glomerulosclerosis 9616220C4015555OMIM12513618688609720
HP:0000100HP:0000100Nephrotic syndrome0DGKE CL E G H8526615008Nephrotic syndrome, type 7615008C3554330OMIM140462852601440
HP:0000100HP:0000100Nephrotic syndrome0FGA CL E G H2243105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM11551103661134820
HP:0000100HP:0000100Nephrotic syndrome0FN1 CL E G H233584090ORPHA1261283778135600
HP:0000100HP:0000100Nephrotic syndrome0FN1 CL E G H2335601894Glomerulopathy with fibronectin deposits 2601894C1866075OMIM1261283778135600
HP:0000100HP:0000100Nephrotic syndrome0GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM1901774172131320
HP:0000100HP:0000100Nephrotic syndrome0GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0000100HP:0000100Nephrotic syndrome0GSN CL E G H2934105120Meretoja syndrome105120C1622345OMIM1131344620137350
HP:0000100HP:0000100Nephrotic syndrome0INF2 CL E G H64423613237Focal segmental glomerulosclerosis 5613237C2750475OMIM17362523791610982
HP:0000100HP:0000100Nephrotic syndrome0KANK2 CL E G H25959617783Nephrotic syndrome type 16617783C4540453OMIM133729300614610
HP:0000100HP:0000100Nephrotic syndrome0LAGE3 CL E G H82702065ORPHA1321926058300060
HP:0000100HP:0000100Nephrotic syndrome0LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM1321926058300060
HP:0000100HP:0000100Nephrotic syndrome0LAMB2 CL E G H3913614199Nephrotic syndrome, type 5, with or without ocular abnormalities614199C3280113OMIM11273686487150325
HP:0000100HP:0000100Nephrotic syndrome0LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM11273686487150325
HP:0000100HP:0000100Nephrotic syndrome0LMX1B CL E G H40102614ORPHA11953046654602575
HP:0000100HP:0000100Nephrotic syndrome0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM11953046654602575
HP:0000100HP:0000100Nephrotic syndrome0LYZ CL E G H4069105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM110636740153450
HP:0000100HP:0000100Nephrotic syndrome0MAGI2 CL E G H9863617609Nephrotic syndrome type 15617609C4539896OMIM12711418957606382
HP:0000100HP:0000100Nephrotic syndrome0MEFV CL E G H4210249100Familial Mediterranean fever249100C0031069OMIM11895616998608107
HP:0000100HP:0000100Nephrotic syndrome0MYO1E CL E G H4643614131Focal segmental glomerulosclerosis 6614131C3279905OMIM122567599601479
HP:0000100HP:0000100Nephrotic syndrome0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA114248816400606416
HP:0000100HP:0000100Nephrotic syndrome0NPHS1 CL E G H4868839Bazopoulou Kyrkanidou syndromeORPHA13204837908602716
HP:0000100HP:0000100Nephrotic syndrome0NPHS2 CL E G H7827600995Nephrotic syndrome, idiopathic, steroid-resistant600995CN034406OMIM121519013394604766
HP:0000100HP:0000100Nephrotic syndrome0NUP107 CL E G H571222065ORPHA1124029914607617
HP:0000100HP:0000100Nephrotic syndrome0NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM1124029914607617
HP:0000100HP:0000100Nephrotic syndrome0OSGEP CL E G H556442065ORPHA1174618028610107
HP:0000100HP:0000100Nephrotic syndrome0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174618028610107
HP:0000100HP:0000100Nephrotic syndrome0PAX2 CL E G H5076616002Focal segmental glomerulosclerosis 7616002C4014925OMIM198938616167409
HP:0000100HP:0000100Nephrotic syndrome0PDSS2 CL E G H57107614652Coenzyme Q10 deficiency, primary, 3614652C3553358OMIM167623041610564
HP:0000100HP:0000100Nephrotic syndrome0PLCE1 CL E G H51196610725Nephrotic syndrome, type 3610725C1853124OMIM16722417175608414
HP:0000100HP:0000100Nephrotic syndrome0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0000100HP:0000100Nephrotic syndrome0PRKCD CL E G H5580615559Autoimmune lymphoproliferative syndrome, type III615559C3809928OMIM161449399176977
HP:0000100HP:0000100Nephrotic syndrome0PTPRO CL E G H5800614196Nephrotic syndrome, type 6614196C3280100OMIM111589678600579
HP:0000100HP:0000100Nephrotic syndrome0SAA1 CL E G H628885445ORPHA132410513104750
HP:0000100HP:0000100Nephrotic syndrome0SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM1272291665602257
HP:0000100HP:0000100Nephrotic syndrome0SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM1182910817603729
HP:0000100HP:0000100Nephrotic syndrome0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM15519210933604322
HP:0000100HP:0000100Nephrotic syndrome0SMARCAL1 CL E G H504851830ORPHA18824411102606622
HP:0000100HP:0000100Nephrotic syndrome0SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM18824411102606622
HP:0000100HP:0000100Nephrotic syndrome0TBX18 CL E G H9096143400Multicystic renal dysplasia, bilateral143400C1840451OMIM1124111595604613
HP:0000100HP:0000100Nephrotic syndrome0TP53RK CL E G H1128582065ORPHA152616197608679
HP:0000100HP:0000100Nephrotic syndrome0TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM152616197608679
HP:0000100HP:0000100Nephrotic syndrome0TPRKB CL E G H510022065ORPHA121324259608680
HP:0000100HP:0000100Nephrotic syndrome0TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM121324259608680
HP:0000100HP:0000100Nephrotic syndrome0TRPC6 CL E G H7225603965Focal segmental glomerulosclerosis 2603965C1858915OMIM14819612338603652
HP:0000100HP:0000100Nephrotic syndrome0WDR4 CL E G H107852065ORPHA169112756605924
HP:0000100HP:0000100Nephrotic syndrome0WDR73 CL E G H8494283472ORPHA1129525928616144
HP:0000100HP:0000100Nephrotic syndrome0WDR73 CL E G H849422065ORPHA1129525928616144
HP:0000100HP:0000100Nephrotic syndrome0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0000100HP:0000100Nephrotic syndrome0WT1 CL E G H7490256370Diffuse mesangial sclerosis256370C0268747OMIM118463512796607102
HP:0000100HP:0000100Nephrotic syndrome0WT1 CL E G H7490194080Drash syndrome194080C0950121OMIM118463512796607102
HP:0000100HP:0000100Nephrotic syndrome0WT1 CL E G H7490136680Frasier syndrome136680C0950122OMIM118463512796607102
HP:0000100HP:0000100Nephrotic syndrome0WT1 CL E G H7490220Peripartum cardiomyopathyORPHA118463512796607102
HP:0000100HP:0000100Nephrotic syndrome0WT1 CL E G H7490347Yorifuji Okuno syndromeORPHA118463512796607102
HP:0000100HP:0000100Nephrotic syndrome0ZNF592 CL E G H964083472ORPHA116328986613624
HP:0000100HP:0000100Nephrotic syndrome1ANLN CL E G H54443616032Focal segmental glomerulosclerosis 8616032C4014993OMIM154814082616027
HP:0000100HP:0000100Nephrotic syndrome1APOA1 CL E G H335105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM17776600107680
HP:0000100HP:0000100Nephrotic syndrome1ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM1336678601925
HP:0000100HP:0000100Nephrotic syndrome1B2M CL E G H567105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM1424914109700
HP:0000100HP:0000100Nephrotic syndrome1C3 CL E G H718613779Complement component 3 deficiency, autosomal recessive613779C3151071OMIM11301981318120700
HP:0000100HP:0000100Nephrotic syndrome1CASP10 CL E G H843603909Autoimmune lymphoproliferative syndrome, type 2A603909C1858968OMIM192361500601762
HP:0000100HP:0000100Nephrotic syndrome1CCND1 CL E G H59529073ORPHA17101582168461
HP:0000100HP:0000100Nephrotic syndrome1CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000100HP:0000100Nephrotic syndrome1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM12726132204120070
HP:0000100HP:0000100Nephrotic syndrome1COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM12726132204120070
HP:0000100HP:0000100Nephrotic syndrome1COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM12336882206120131
HP:0000100HP:0000100Nephrotic syndrome1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM1100013572207303630
HP:0000100HP:0000100Nephrotic syndrome1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13310225223609825
HP:0000100HP:0000100Nephrotic syndrome1COQ6 CL E G H51004614650Coenzyme Q10 deficiency, primary, 6614650C3553349OMIM1168220233614647
HP:0000100HP:0000100Nephrotic syndrome1COQ8B CL E G H79934615573Nephrotic syndrome, type 9615573C3809965OMIM1288519041615567
HP:0000100HP:0000100Nephrotic syndrome1CRB2 CL E G H286204616220Focal segmental glomerulosclerosis 9616220C4015555OMIM12513618688609720
HP:0000100HP:0000100Nephrotic syndrome1DGKE CL E G H8526615008Nephrotic syndrome, type 7615008C3554330OMIM140462852601440
HP:0000100HP:0000100Nephrotic syndrome1FGA CL E G H2243105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM11551103661134820
HP:0000100HP:0000100Nephrotic syndrome1FN1 CL E G H233584090ORPHA1261283778135600
HP:0000100HP:0000100Nephrotic syndrome1FN1 CL E G H2335601894Glomerulopathy with fibronectin deposits 2601894C1866075OMIM1261283778135600
HP:0000100HP:0000100Nephrotic syndrome1GATA3 CL E G H2625146255Barakat syndrome146255C1840333OMIM1901774172131320
HP:0000100HP:0000100Nephrotic syndrome1GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0000100HP:0000100Nephrotic syndrome1GSN CL E G H2934105120Meretoja syndrome105120C1622345OMIM1131344620137350
HP:0000100HP:0000100Nephrotic syndrome1INF2 CL E G H64423613237Focal segmental glomerulosclerosis 5613237C2750475OMIM17362523791610982
HP:0000100HP:0000100Nephrotic syndrome1KANK2 CL E G H25959617783Nephrotic syndrome type 16617783C4540453OMIM133729300614610
HP:0000100HP:0000100Nephrotic syndrome1LAGE3 CL E G H82702065ORPHA1321926058300060
HP:0000100HP:0000100Nephrotic syndrome1LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM1321926058300060
HP:0000100HP:0000100Nephrotic syndrome1LAMB2 CL E G H3913614199Nephrotic syndrome, type 5, with or without ocular abnormalities614199C3280113OMIM11273686487150325
HP:0000100HP:0000100Nephrotic syndrome1LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM11273686487150325
HP:0000100HP:0000100Nephrotic syndrome1LMX1B CL E G H40102614ORPHA11953046654602575
HP:0000100HP:0000100Nephrotic syndrome1LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM11953046654602575
HP:0000100HP:0000100Nephrotic syndrome1LYZ CL E G H4069105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM110636740153450
HP:0000100HP:0000100Nephrotic syndrome1MAGI2 CL E G H9863617609Nephrotic syndrome type 15617609C4539896OMIM12711418957606382
HP:0000100HP:0000100Nephrotic syndrome1MEFV CL E G H4210249100Familial Mediterranean fever249100C0031069OMIM11895616998608107
HP:0000100HP:0000100Nephrotic syndrome1MYO1E CL E G H4643614131Focal segmental glomerulosclerosis 6614131C3279905OMIM122567599601479
HP:0000100HP:0000100Nephrotic syndrome1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA114248816400606416
HP:0000100HP:0000100Nephrotic syndrome1NPHS1 CL E G H4868839Bazopoulou Kyrkanidou syndromeORPHA13204837908602716
HP:0000100HP:0000100Nephrotic syndrome1NPHS2 CL E G H7827600995Nephrotic syndrome, idiopathic, steroid-resistant600995CN034406OMIM121519013394604766
HP:0000100HP:0000100Nephrotic syndrome1NUP107 CL E G H571222065ORPHA1124029914607617
HP:0000100HP:0000100Nephrotic syndrome1NUP107 CL E G H57122616730Nephrotic syndrome, type 11616730C4225228OMIM1124029914607617
HP:0000100HP:0000100Nephrotic syndrome1OSGEP CL E G H556442065ORPHA1174618028610107
HP:0000100HP:0000100Nephrotic syndrome1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174618028610107
HP:0000100HP:0000100Nephrotic syndrome1PAX2 CL E G H5076616002Focal segmental glomerulosclerosis 7616002C4014925OMIM198938616167409
HP:0000100HP:0000100Nephrotic syndrome1PDSS2 CL E G H57107614652Coenzyme Q10 deficiency, primary, 3614652C3553358OMIM167623041610564
HP:0000100HP:0000100Nephrotic syndrome1PLCE1 CL E G H51196610725Nephrotic syndrome, type 3610725C1853124OMIM16722417175608414
HP:0000100HP:0000100Nephrotic syndrome1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0000100HP:0000100Nephrotic syndrome1PRKCD CL E G H5580615559Autoimmune lymphoproliferative syndrome, type III615559C3809928OMIM161449399176977
HP:0000100HP:0000100Nephrotic syndrome1PTPRO CL E G H5800614196Nephrotic syndrome, type 6614196C3280100OMIM111589678600579
HP:0000100HP:0000100Nephrotic syndrome1SAA1 CL E G H628885445ORPHA132410513104750
HP:0000100HP:0000100Nephrotic syndrome1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM1272291665602257
HP:0000100HP:0000100Nephrotic syndrome1SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM1182910817603729
HP:0000100HP:0000100Nephrotic syndrome1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM15519210933604322
HP:0000100HP:0000100Nephrotic syndrome1SMARCAL1 CL E G H504851830ORPHA18824411102606622
HP:0000100HP:0000100Nephrotic syndrome1SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM18824411102606622
HP:0000100HP:0000100Nephrotic syndrome1TBX18 CL E G H9096143400Multicystic renal dysplasia, bilateral143400C1840451OMIM1124111595604613
HP:0000100HP:0000100Nephrotic syndrome1TP53RK CL E G H1128582065ORPHA152616197608679
HP:0000100HP:0000100Nephrotic syndrome1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM152616197608679
HP:0000100HP:0000100Nephrotic syndrome1TPRKB CL E G H510022065ORPHA121324259608680
HP:0000100HP:0000100Nephrotic syndrome1TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM121324259608680
HP:0000100HP:0000100Nephrotic syndrome1TRPC6 CL E G H7225603965Focal segmental glomerulosclerosis 2603965C1858915OMIM14819612338603652
HP:0000100HP:0000100Nephrotic syndrome1WDR4 CL E G H107852065ORPHA169112756605924
HP:0000100HP:0000100Nephrotic syndrome1WDR73 CL E G H849422065ORPHA1129525928616144
HP:0000100HP:0000100Nephrotic syndrome1WDR73 CL E G H8494283472ORPHA1129525928616144
HP:0000100HP:0000100Nephrotic syndrome1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0000100HP:0000100Nephrotic syndrome1WT1 CL E G H7490256370Diffuse mesangial sclerosis256370C0268747OMIM118463512796607102
HP:0000100HP:0000100Nephrotic syndrome1WT1 CL E G H7490194080Drash syndrome194080C0950121OMIM118463512796607102
HP:0000100HP:0000100Nephrotic syndrome1WT1 CL E G H7490136680Frasier syndrome136680C0950122OMIM118463512796607102
HP:0000100HP:0000100Nephrotic syndrome1WT1 CL E G H7490220Peripartum cardiomyopathyORPHA118463512796607102
HP:0000100HP:0000100Nephrotic syndrome1WT1 CL E G H7490347Yorifuji Okuno syndromeORPHA118463512796607102
HP:0000100HP:0000100Nephrotic syndrome1ZNF592 CL E G H964083472ORPHA116328986613624
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000100HP:0000100Nephrotic syndrome0ADA CL E G H10039041ORPHA096215186608958
HP:0000100HP:0000100Nephrotic syndrome0ARL6 CL E G H84100110ORPHA0217913210608845
HP:0000100HP:0000100Nephrotic syndrome0BBIP1 CL E G H92482110ORPHA014328093613605
HP:0000100HP:0000100Nephrotic syndrome0BBS1 CL E G H582110ORPHA0105309966209901
HP:0000100HP:0000100Nephrotic syndrome0BBS10 CL E G H79738110ORPHA010931726291610148
HP:0000100HP:0000100Nephrotic syndrome0BBS12 CL E G H166379110ORPHA06123726648610683
HP:0000100HP:0000100Nephrotic syndrome0BBS2 CL E G H583110ORPHA096277967606151
HP:0000100HP:0000100Nephrotic syndrome0BBS4 CL E G H585110ORPHA054217969600374
HP:0000100HP:0000100Nephrotic syndrome0BBS5 CL E G H129880110ORPHA03186970603650
HP:0000100HP:0000100Nephrotic syndrome0BBS7 CL E G H55212110ORPHA04417518758607590
HP:0000100HP:0000100Nephrotic syndrome0BBS9 CL E G H27241110ORPHA05329230000607968
HP:0000100HP:0000100Nephrotic syndrome0C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM07321243601269
HP:0000100HP:0000100Nephrotic syndrome0C8orf37 CL E G H157657110ORPHA01711927232614477
HP:0000100HP:0000100Nephrotic syndrome0CEP290 CL E G H80184110ORPHA031088429021610142
HP:0000100HP:0000100Nephrotic syndrome0CHD7 CL E G H5563639041ORPHA0884126620626608892
HP:0000100HP:0000100Nephrotic syndrome0DCLRE1C CL E G H6442139041ORPHA09131817642605988
HP:0000100HP:0000100Nephrotic syndrome0DMRT3 CL E G H58524251510ORPHA0119313909614754
HP:0000100HP:0000100Nephrotic syndrome0GATA4 CL E G H2626251510ORPHA01713414173600576
HP:0000100HP:0000100Nephrotic syndrome0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM02828618873606951
HP:0000100HP:0000100Nephrotic syndrome0IFT172 CL E G H26160110ORPHA02726930391607386
HP:0000100HP:0000100Nephrotic syndrome0IFT27 CL E G H11020110ORPHA045218626615870
HP:0000100HP:0000100Nephrotic syndrome0IL2RG CL E G H356139041ORPHA02502716010308380
HP:0000100HP:0000100Nephrotic syndrome0IL7R CL E G H357539041ORPHA0592406024146661
HP:0000100HP:0000100Nephrotic syndrome0ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM011606139605025
HP:0000100HP:0000100Nephrotic syndrome0LIG4 CL E G H398139041ORPHA0403176601601837
HP:0000100HP:0000100Nephrotic syndrome0LZTFL1 CL E G H54585110ORPHA03406741606568
HP:0000100HP:0000100Nephrotic syndrome0MAP3K1 CL E G H4214251510ORPHA0331076848600982
HP:0000100HP:0000100Nephrotic syndrome0MARS CL E G H4141401835ORPHA0176898156560
HP:0000100HP:0000100Nephrotic syndrome0MEFV CL E G H4210342ORPHA01895616998608107
HP:0000100HP:0000100Nephrotic syndrome0MKKS CL E G H8195110ORPHA0601947108604896
HP:0000100HP:0000100Nephrotic syndrome0MKS1 CL E G H54903110ORPHA0523347121609883
HP:0000100HP:0000100Nephrotic syndrome0MT-CO1 CL E G H4512550ORPHA07419516030
HP:0000100HP:0000100Nephrotic syndrome0MT-CO2 CL E G H4513550ORPHA07421516040
HP:0000100HP:0000100Nephrotic syndrome0MT-CO3 CL E G H4514550ORPHA07422516050
HP:0000100HP:0000100Nephrotic syndrome0MT-ND1 CL E G H4535550ORPHA07455516000
HP:0000100HP:0000100Nephrotic syndrome0MT-ND4 CL E G H4538550ORPHA07459516003
HP:0000100HP:0000100Nephrotic syndrome0MT-ND5 CL E G H4540550ORPHA07461516005
HP:0000100HP:0000100Nephrotic syndrome0MT-ND6 CL E G H4541550ORPHA07462516006
HP:0000100HP:0000100Nephrotic syndrome0MT-TF CL E G H4558550ORPHA07481590070
HP:0000100HP:0000100Nephrotic syndrome0MT-TH CL E G H4564550ORPHA07487590040
HP:0000100HP:0000100Nephrotic syndrome0MT-TL1 CL E G H4567550ORPHA07490590050
HP:0000100HP:0000100Nephrotic syndrome0MT-TQ CL E G H4572550ORPHA07495590030
HP:0000100HP:0000100Nephrotic syndrome0MT-TS1 CL E G H4574550ORPHA07497590080
HP:0000100HP:0000100Nephrotic syndrome0MT-TS2 CL E G H4575550ORPHA07498590085
HP:0000100HP:0000100Nephrotic syndrome0MT-TW CL E G H4578550ORPHA07501590095
HP:0000100HP:0000100Nephrotic syndrome0NPHP1 CL E G H4867110ORPHA0794037905607100
HP:0000100HP:0000100Nephrotic syndrome0NR0B1 CL E G H190251510ORPHA02552707960300473
HP:0000100HP:0000100Nephrotic syndrome0NR5A1 CL E G H2516251510ORPHA01891057983184757
HP:0000100HP:0000100Nephrotic syndrome0RAG1 CL E G H589639041ORPHA01873349831179615
HP:0000100HP:0000100Nephrotic syndrome0RAG2 CL E G H589739041ORPHA0841759832179616
HP:0000100HP:0000100Nephrotic syndrome0RMRP CL E G H602339041ORPHA012341110031157660
HP:0000100HP:0000100Nephrotic syndrome0SDCCAG8 CL E G H10806110ORPHA01824910671613524
HP:0000100HP:0000100Nephrotic syndrome0SERPINA1 CL E G H526560ORPHA01082868941107400
HP:0000100HP:0000100Nephrotic syndrome0SNAP29 CL E G H934266631ORPHA01352711133604202
HP:0000100HP:0000100Nephrotic syndrome0SOX9 CL E G H6662251510ORPHA014915511204608160
HP:0000100HP:0000100Nephrotic syndrome0SRY CL E G H6736251510ORPHA01099611311480000
HP:0000100HP:0000100Nephrotic syndrome0TRIM32 CL E G H22954110ORPHA01632716380602290
HP:0000100HP:0000100Nephrotic syndrome0TTC8 CL E G H123016110ORPHA01612820087608132
HP:0000100HP:0000100Nephrotic syndrome0VAMP7 CL E G H6845251510ORPHA0212411486300053
HP:0000100HP:0000100Nephrotic syndrome0WDPCP CL E G H51057110ORPHA0817628027613580
HP:0000100HP:0000100Nephrotic syndrome0WT1 CL E G H7490251510ORPHA018463512796607102
HP:0000100HP:0000100Nephrotic syndrome0WWOX CL E G H51741251510ORPHA05059612799605131
HP:0000100HP:0000100Nephrotic syndrome0ZAP70 CL E G H7535617006Autoimmune disease, multisystem, infantile-onset, 2617006C4310768OMIM03018612858176947
HP:0000100HP:0000100Nephrotic syndrome0ZFPM2 CL E G H23414251510ORPHA05214216700603693
HP:0000100HP:0000100Nephrotic syndrome1ADA CL E G H10039041ORPHA096215186608958
HP:0000100HP:0000100Nephrotic syndrome1ARL6 CL E G H84100110ORPHA0217913210608845
HP:0000100HP:0000100Nephrotic syndrome1BBIP1 CL E G H92482110ORPHA014328093613605
HP:0000100HP:0000100Nephrotic syndrome1BBS1 CL E G H582110ORPHA0105309966209901
HP:0000100HP:0000100Nephrotic syndrome1BBS10 CL E G H79738110ORPHA010931726291610148
HP:0000100HP:0000100Nephrotic syndrome1BBS12 CL E G H166379110ORPHA06123726648610683
HP:0000100HP:0000100Nephrotic syndrome1BBS2 CL E G H583110ORPHA096277967606151
HP:0000100HP:0000100Nephrotic syndrome1BBS4 CL E G H585110ORPHA054217969600374
HP:0000100HP:0000100Nephrotic syndrome1BBS5 CL E G H129880110ORPHA03186970603650
HP:0000100HP:0000100Nephrotic syndrome1BBS7 CL E G H55212110ORPHA04417518758607590
HP:0000100HP:0000100Nephrotic syndrome1BBS9 CL E G H27241110ORPHA05329230000607968
HP:0000100HP:0000100Nephrotic syndrome1C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM07321243601269
HP:0000100HP:0000100Nephrotic syndrome1C8orf37 CL E G H157657110ORPHA01711927232614477
HP:0000100HP:0000100Nephrotic syndrome1CEP290 CL E G H80184110ORPHA031088429021610142
HP:0000100HP:0000100Nephrotic syndrome1CHD7 CL E G H5563639041ORPHA0884126620626608892
HP:0000100HP:0000100Nephrotic syndrome1DCLRE1C CL E G H6442139041ORPHA09131817642605988
HP:0000100HP:0000100Nephrotic syndrome1DMRT3 CL E G H58524251510ORPHA0119313909614754
HP:0000100HP:0000100Nephrotic syndrome1GATA4 CL E G H2626251510ORPHA01713414173600576
HP:0000100HP:0000100Nephrotic syndrome1IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM02828618873606951
HP:0000100HP:0000100Nephrotic syndrome1IFT172 CL E G H26160110ORPHA02726930391607386
HP:0000100HP:0000100Nephrotic syndrome1IFT27 CL E G H11020110ORPHA045218626615870
HP:0000100HP:0000100Nephrotic syndrome1IL2RG CL E G H356139041ORPHA02502716010308380
HP:0000100HP:0000100Nephrotic syndrome1IL7R CL E G H357539041ORPHA0592406024146661
HP:0000100HP:0000100Nephrotic syndrome1ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM011606139605025
HP:0000100HP:0000100Nephrotic syndrome1LIG4 CL E G H398139041ORPHA0403176601601837
HP:0000100HP:0000100Nephrotic syndrome1LZTFL1 CL E G H54585110ORPHA03406741606568
HP:0000100HP:0000100Nephrotic syndrome1MAP3K1 CL E G H4214251510ORPHA0331076848600982
HP:0000100HP:0000100Nephrotic syndrome1MARS CL E G H4141401835ORPHA0176898156560
HP:0000100HP:0000100Nephrotic syndrome1MEFV CL E G H4210342ORPHA01895616998608107
HP:0000100HP:0000100Nephrotic syndrome1MKKS CL E G H8195110ORPHA0601947108604896
HP:0000100HP:0000100Nephrotic syndrome1MKS1 CL E G H54903110ORPHA0523347121609883
HP:0000100HP:0000100Nephrotic syndrome1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0000100HP:0000100Nephrotic syndrome1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0000100HP:0000100Nephrotic syndrome1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0000100HP:0000100Nephrotic syndrome1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0000100HP:0000100Nephrotic syndrome1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0000100HP:0000100Nephrotic syndrome1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0000100HP:0000100Nephrotic syndrome1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0000100HP:0000100Nephrotic syndrome1MT-TF CL E G H4558550ORPHA07481590070
HP:0000100HP:0000100Nephrotic syndrome1MT-TH CL E G H4564550ORPHA07487590040
HP:0000100HP:0000100Nephrotic syndrome1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0000100HP:0000100Nephrotic syndrome1MT-TQ CL E G H4572550ORPHA07495590030
HP:0000100HP:0000100Nephrotic syndrome1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0000100HP:0000100Nephrotic syndrome1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0000100HP:0000100Nephrotic syndrome1MT-TW CL E G H4578550ORPHA07501590095
HP:0000100HP:0000100Nephrotic syndrome1NPHP1 CL E G H4867110ORPHA0794037905607100
HP:0000100HP:0000100Nephrotic syndrome1NR0B1 CL E G H190251510ORPHA02552707960300473
HP:0000100HP:0000100Nephrotic syndrome1NR5A1 CL E G H2516251510ORPHA01891057983184757
HP:0000100HP:0000100Nephrotic syndrome1RAG1 CL E G H589639041ORPHA01873349831179615
HP:0000100HP:0000100Nephrotic syndrome1RAG2 CL E G H589739041ORPHA0841759832179616
HP:0000100HP:0000100Nephrotic syndrome1RMRP CL E G H602339041ORPHA012341110031157660
HP:0000100HP:0000100Nephrotic syndrome1SDCCAG8 CL E G H10806110ORPHA01824910671613524
HP:0000100HP:0000100Nephrotic syndrome1SERPINA1 CL E G H526560ORPHA01082868941107400
HP:0000100HP:0000100Nephrotic syndrome1SNAP29 CL E G H934266631ORPHA01352711133604202
HP:0000100HP:0000100Nephrotic syndrome1SOX9 CL E G H6662251510ORPHA014915511204608160
HP:0000100HP:0000100Nephrotic syndrome1SRY CL E G H6736251510ORPHA01099611311480000
HP:0000100HP:0000100Nephrotic syndrome1TRIM32 CL E G H22954110ORPHA01632716380602290
HP:0000100HP:0000100Nephrotic syndrome1TTC8 CL E G H123016110ORPHA01612820087608132
HP:0000100HP:0000100Nephrotic syndrome1VAMP7 CL E G H6845251510ORPHA0212411486300053
HP:0000100HP:0000100Nephrotic syndrome1WDPCP CL E G H51057110ORPHA0817628027613580
HP:0000100HP:0000100Nephrotic syndrome1WT1 CL E G H7490251510ORPHA018463512796607102
HP:0000100HP:0000100Nephrotic syndrome1WWOX CL E G H51741251510ORPHA05059612799605131
HP:0000100HP:0000100Nephrotic syndrome1ZAP70 CL E G H7535617006Autoimmune disease, multisystem, infantile-onset, 2617006C4310768OMIM03018612858176947
HP:0000100HP:0000100Nephrotic syndrome1ZFPM2 CL E G H23414251510ORPHA05214216700603693


Genes (122) :ADA ANLN APOA1 ARHGDIA ARL6 B2M BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 C1QBP C3 C8ORF37 CASP10 CCND1 CEP290 CHD7 CHST14 COL4A3 COL4A4 COL4A5 COQ2 COQ6 COQ8B COX1 COX2 COX3 CRB2 DCLRE1C DGKE DMRT3 EMP2 FGA FN1 GATA3 GATA4 GLA GSN IFIH1 IFT172 IFT27 IL2RG IL7R INF2 ITGA3 KANK2 LAGE3 LAMB2 LIG4 LMX1B LYZ LZTFL1 MAGI2 MAP3K1 MARS MEFV MKKS MKS1 MYO1E ND1 ND4 ND5 ND6 NLRP3 NPHP1 NPHS1 NPHS2 NR0B1 NR5A1 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93 OSGEP PAX2 PDSS2 PLCE1 PMM2 PRKCD PTPRO RAG1 RAG2 RMRP SAA1 SCARB2 SDCCAG8 SERPINA1 SGPL1 SLC17A5 SMARCAL1 SNAP29 SOX9 SRY TBX18 TP53RK TPRKB TRIM32 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRPC6 TTC8 VAMP7 WDPCP WDR4 WDR73 WT1 WWOX ZAP70 ZFPM2 ZNF592

Diseases (78) :39041 616032 105200 615244 110 617713 613779 603909 29073 601776 104200 203780 301050 607426 614650 615573 550 616220 615008 251510 84090 601894 146255 324 105120 615846 613237 614748 617783 2065 301006 614199 609049 2614 161200 617609 401835 342 249100 614131 575 839 600995 616730 617729 616002 614652 610725 212065 615559 614196 85445 254900 60 617575 269920 1830 242900 66631 143400 617730 617731 603965 83472 251300 256370 194080 136680 220 347 617006 615861 256300 618177 618178 616893 618176 616892
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.