Human Phenotype Ontology 
Grandparent Node:
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Embryonal neoplasm (HP:0002898)help
Grandparent Node:
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Renal neoplasm (HP:0009726)help
Parent Node:
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Embryonal renal neoplasm (HP:0011794)help
..Starting node
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Nephroblastoma (HP:0002667)help
Term ID: 2667
Name: Nephroblastoma
Synonym: Wilm's tumor; Wilm's tumour; Wilms tumor; Wilms tumour
Definition: The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
Comments:
Reference: HP:0002667
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital mesoblastic nephroma (HP:0100881) help
..expandNephroblastomatosis (HP:0008643) 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:0002667HP:0002667Nephroblastoma0ALX4 CL E G H60529450ORPHA:52022Potocki-Shaffer syndromeHP:0040283 - Occasional132
HP:0002667HP:0002667Nephroblastoma0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040284 - Very rare145
HP:0002667HP:0002667Nephroblastoma0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040284 - Very rare314
HP:0002667HP:0002667Nephroblastoma0BRCA2 CL E G H6751101ORPHA:654NephroblastomaHP:0040281 - Very frequent7642
HP:0002667HP:0002667Nephroblastoma0BRCA2 CL E G H6751101OMIM:194070Wilms tumor 1.7642
HP:0002667HP:0002667Nephroblastoma0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0002667HP:0002667Nephroblastoma0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0002667HP:0002667Nephroblastoma0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0002667HP:0002667Nephroblastoma0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0002667HP:0002667Nephroblastoma0CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2.169
HP:0002667HP:0002667Nephroblastoma0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040284 - Very rare169
HP:0002667HP:0002667Nephroblastoma0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040284 - Very rare169
HP:0002667HP:0002667Nephroblastoma0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome.114
HP:0002667HP:0002667Nephroblastoma0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0002667HP:0002667Nephroblastoma0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040284 - Very rare2
HP:0002667HP:0002667Nephroblastoma0DICER1 CL E G H2340517098OMIM:618272Global developmental delay, lung cysts, overgrowth, and wilms tumor.670
HP:0002667HP:0002667Nephroblastoma0DICER1 CL E G H2340517098OMIM:180295RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2670
HP:0002667HP:0002667Nephroblastoma0DIS3L2 CL E G H12956328648ORPHA:654NephroblastomaHP:0040281 - Very frequent164
HP:0002667HP:0002667Nephroblastoma0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0002667HP:0002667Nephroblastoma0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040282 - Frequent164
HP:0002667HP:0002667Nephroblastoma0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040284 - Very rare1
HP:0002667HP:0002667Nephroblastoma0EXT2 CL E G H21323513ORPHA:52022Potocki-Shaffer syndromeHP:0040283 - Occasional102
HP:0002667HP:0002667Nephroblastoma0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040283 - Occasional2
HP:0002667HP:0002667Nephroblastoma0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndromeHP:0040283 - Occasional2
HP:0002667HP:0002667Nephroblastoma0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040284 - Very rare87
HP:0002667HP:0002667Nephroblastoma0GPC3 CL E G H27194451ORPHA:654NephroblastomaHP:0040281 - Very frequent73
HP:0002667HP:0002667Nephroblastoma0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional73
HP:0002667HP:0002667Nephroblastoma0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0002667HP:0002667Nephroblastoma0GPC3 CL E G H27194451OMIM:194070Wilms tumor 1.73
HP:0002667HP:0002667Nephroblastoma0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional
HP:0002667HP:0002667Nephroblastoma0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0002667HP:0002667Nephroblastoma0GPC4 CL E G H22394452OMIM:194070Wilms tumor 1.
HP:0002667HP:0002667Nephroblastoma0H19 CL E G H2831204713ORPHA:2128Isolated hemihyperplasiaHP:0040283 - Occasional4
HP:0002667HP:0002667Nephroblastoma0H19 CL E G H2831204713ORPHA:654NephroblastomaHP:0040281 - Very frequent4
HP:0002667HP:0002667Nephroblastoma0H19 CL E G H2831204713OMIM:194070Wilms tumor 1.4
HP:0002667HP:0002667Nephroblastoma0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome.
HP:0002667HP:0002667Nephroblastoma0H19-ICR CL E G H105259599OMIM:194071Multiple tumor-associated chromosome region 1.
HP:0002667HP:0002667Nephroblastoma0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0002667HP:0002667Nephroblastoma0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040283 - Occasional33
HP:0002667HP:0002667Nephroblastoma0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0002667HP:0002667Nephroblastoma0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome.9
HP:0002667HP:0002667Nephroblastoma0IGF2 CL E G H34815466ORPHA:2128Isolated hemihyperplasiaHP:0040283 - Occasional9
HP:0002667HP:0002667Nephroblastoma0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0002667HP:0002667Nephroblastoma0IGF2 CL E G H34815466OMIM:194070Wilms tumor 1.9
HP:0002667HP:0002667Nephroblastoma0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome.730
HP:0002667HP:0002667Nephroblastoma0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome.1
HP:0002667HP:0002667Nephroblastoma0KCNQ1OT1 CL E G H109846295ORPHA:2128Isolated hemihyperplasiaHP:0040283 - Occasional1
HP:0002667HP:0002667Nephroblastoma0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040284 - Very rare13
HP:0002667HP:0002667Nephroblastoma0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040284 - Very rare48
HP:0002667HP:0002667Nephroblastoma0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040284 - Very rare38
HP:0002667HP:0002667Nephroblastoma0PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group NHP:0040283 - Occasional1349
HP:0002667HP:0002667Nephroblastoma0PAX6 CL E G H50808620OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndromeHP:0040282 - Frequent194
HP:0002667HP:0002667Nephroblastoma0PHF21A CL E G H5131724156ORPHA:52022Potocki-Shaffer syndromeHP:0040283 - Occasional2
HP:0002667HP:0002667Nephroblastoma0PIK3CA CL E G H52908975OMIM:612918Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi162
HP:0002667HP:0002667Nephroblastoma0PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndromeHP:0040284 - Very rare162
HP:0002667HP:0002667Nephroblastoma0PIK3CA CL E G H52908975OMIM:602501Megalencephaly-Capillary malformation-polymicrogyria syndrome.162
HP:0002667HP:0002667Nephroblastoma0POU6F2 CL E G H1128121694ORPHA:654NephroblastomaHP:0040281 - Very frequent2
HP:0002667HP:0002667Nephroblastoma0POU6F2 CL E G H1128121694OMIM:601583Wilms tumor 5.2
HP:0002667HP:0002667Nephroblastoma0PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3HP:0040283 - Occasional665
HP:0002667HP:0002667Nephroblastoma0REST CL E G H59789966ORPHA:654NephroblastomaHP:0040281 - Very frequent7
HP:0002667HP:0002667Nephroblastoma0REST CL E G H59789966OMIM:616806WILMS TUMOR 6; WT67
HP:0002667HP:0002667Nephroblastoma0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040284 - Very rare143
HP:0002667HP:0002667Nephroblastoma0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040284 - Very rare109
HP:0002667HP:0002667Nephroblastoma0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0002667HP:0002667Nephroblastoma0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040284 - Very rare23
HP:0002667HP:0002667Nephroblastoma0TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome.911
HP:0002667HP:0002667Nephroblastoma0TRIM28 CL E G H1015516384ORPHA:654NephroblastomaHP:0040281 - Very frequent2
HP:0002667HP:0002667Nephroblastoma0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0002667HP:0002667Nephroblastoma0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0002667HP:0002667Nephroblastoma0TRIP13 CL E G H931912307OMIM:617598Mosaic variegated aneuploidy syndrome 3.2
HP:0002667HP:0002667Nephroblastoma0TRIP13 CL E G H931912307ORPHA:654NephroblastomaHP:0040281 - Very frequent2
HP:0002667HP:0002667Nephroblastoma0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040284 - Very rare2
HP:0002667HP:0002667Nephroblastoma0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040284 - Very rare177
HP:0002667HP:0002667Nephroblastoma0WT1 CL E G H749012796OMIM:194080Denys-Drash syndrome.177
HP:0002667HP:0002667Nephroblastoma0WT1 CL E G H749012796ORPHA:220Denys-Drash syndromeHP:0040281 - Very frequent177
HP:0002667HP:0002667Nephroblastoma0WT1 CL E G H749012796ORPHA:347Frasier syndromeHP:0040284 - Very rare177
HP:0002667HP:0002667Nephroblastoma0WT1 CL E G H749012796ORPHA:654NephroblastomaHP:0040281 - Very frequent177
HP:0002667HP:0002667Nephroblastoma0WT1 CL E G H749012796OMIM:256370Nephrotic syndrome, type 4.177
HP:0002667HP:0002667Nephroblastoma0WT1 CL E G H749012796OMIM:194070Wilms tumor 1.177
HP:0002667HP:0002667Nephroblastoma0WT1 CL E G H749012796OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndromeHP:0040282 - Frequent177
HP:0002667HP:0002667Nephroblastoma0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040284 - Very rare149
HP:0002667HP:0002667Nephroblastoma0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040284 - Very rare31


Genes (48) :ALX4 ASXL1 BLM BRCA2 BUB1 BUB1B BUB3 CDC73 CDKN1C CEP57 DHX37 DICER1 DIS3L2 DMRT3 EXT2 FIBP GATA4 GPC3 GPC4 H19 H19-ICR HDAC4 HRAS IGF2 KCNQ1 KCNQ1OT1 MAP3K1 NR0B1 NR5A1 PALB2 PAX6 PHF21A PIK3CA POU6F2 PTCH1 REST SETBP1 SOX9 SPRED1 SRY TP53 TRIM28 TRIM37 TRIP13 VAMP7 WT1 WWOX ZFPM2

Diseases (42) :ORPHA:52022 ORPHA:97297 ORPHA:125 ORPHA:654 OMIM:194070 ORPHA:1052 OMIM:257300 OMIM:145001 ORPHA:99880 ORPHA:143 OMIM:130650 ORPHA:251510 OMIM:618272 OMIM:180295 OMIM:267000 ORPHA:2849 ORPHA:500095 OMIM:617107 ORPHA:373 OMIM:312870 ORPHA:2128 OMIM:194071 OMIM:180860 ORPHA:1001 ORPHA:2874 OMIM:610832 OMIM:194072 OMIM:612918 ORPHA:276280 OMIM:602501 OMIM:601583 ORPHA:77301 OMIM:616806 ORPHA:798 ORPHA:137605 OMIM:151623 OMIM:253250 OMIM:617598 OMIM:194080 ORPHA:220 ORPHA:347 OMIM:256370
 

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