Human Phenotype Ontology

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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:
Abnormality of the genital system (HP:0000078)

Grandparent Node:
Neoplasm of the genitourinary tract (HP:0007379)

Parent Node:
Genital neoplasm (HP:0010787)

..Starting node
..Gonadal neoplasm (HP:0010785)

Term ID:

10785

Name:

Gonadal neoplasm

Synonym:

Gonadal neoplasia

Definition:

A tumor (abnormal growth of tissue) of a gonad.

Comments:

Reference:

HP:0010785

Genes and Diseases:

Child Nodes:

........

Testicular neoplasm (HP:0010788)

................... HP:0000030 Testicular gonadoblastoma
................... HP:0025451 Testicular adrenal rest tumor
................... HP:0100005 Testicular mesothelioma
................... HP:0100616 Testicular teratoma
................... HP:0100617 Testicular seminoma
................... HP:0100618 Leydig cell neoplasia
................... HP:0100619 Sertoli cell neoplasm

........

Epididymal neoplasm (HP:0030421)

................... HP:0009715 Papillary cystadenoma of the epididymis

........

Ovarian neoplasm (HP:0100615)

................... HP:0000149 Ovarian gonadoblastoma
................... HP:0006774 Ovarian papillary adenocarcinoma
................... HP:0010618 Ovarian fibroma
................... HP:0012226 Ovarian teratoma
................... HP:0025318 Ovarian carcinoma
................... HP:0030983 Ovarian thecoma
................... HP:0100621 Dysgerminoma

........

Germ cell neoplasia (HP:0100728)

................... HP:0000150 Gonadoblastoma
................... HP:0009792 Teratoma
................... HP:0031502 Trophoblastic tumor
................... HP:0100620 Germinoma

Sister Nodes:

Fallopian tube carcinoma (HP:0030394)

Neoplasm of the male external genitalia (HP:0100848)

Uterine neoplasm (HP:0010784)

Vaginal neoplasm (HP:0100650)

Vulvar neoplasm (HP:0030416)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0010785	HP:0010785	Gonadal neoplasm	0	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0010785	Gonadal neoplasm	0	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100728	Germ cell neoplasia	1	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0010788	Testicular neoplasm	1	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0030421	Epididymal neoplasm	1	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0100615	Ovarian neoplasm	1	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0010788	Testicular neoplasm	1	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0030421	Epididymal neoplasm	1	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100615	Ovarian neoplasm	1	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100728	Germ cell neoplasia	1	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0000150	Gonadoblastoma	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100619	Sertoli cell neoplasm	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0031918	Ovarian sex cord-stromal tumor	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0000030	Testicular gonadoblastoma	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100621	Dysgerminoma	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0031502	Trophoblastic tumor	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100005	Testicular mesothelioma	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0031920	Malignant ovarian granulosa cell tumor	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0010618	Ovarian fibroma	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100618	Leydig cell neoplasia	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100616	Testicular teratoma	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0000149	Ovarian gonadoblastoma	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0006774	Ovarian papillary adenocarcinoma	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0025451	Testicular adrenal rest tumor	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0100620	Germinoma	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0009792	Teratoma	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0012226	Ovarian teratoma	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0100617	Testicular seminoma	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0025318	Ovarian carcinoma	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0009715	Papillary cystadenoma of the epididymis	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0000149	Ovarian gonadoblastoma	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0006774	Ovarian papillary adenocarcinoma	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0025451	Testicular adrenal rest tumor	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100620	Germinoma	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0009792	Teratoma	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0012226	Ovarian teratoma	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100617	Testicular seminoma	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0025318	Ovarian carcinoma	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0009715	Papillary cystadenoma of the epididymis	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100616	Testicular teratoma	2	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100618	Leydig cell neoplasia	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0000150	Gonadoblastoma	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0100619	Sertoli cell neoplasm	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0031918	Ovarian sex cord-stromal tumor	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0000030	Testicular gonadoblastoma	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0100621	Dysgerminoma	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0031502	Trophoblastic tumor	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0100005	Testicular mesothelioma	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0031920	Malignant ovarian granulosa cell tumor	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0010618	Ovarian fibroma	2	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0100616	Testicular teratoma	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0000149	Ovarian gonadoblastoma	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100312	Cerebral germinoma	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0030767	Epignathus	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0030983	Ovarian thecoma	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0030755	Craniofacial teratoma	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0011674	Cardiac teratoma	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0012226	Ovarian teratoma	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100617	Testicular seminoma	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0031227	Nasopharyngeal teratoma	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0030736	Sacrococcygeal teratoma	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0025274	Ovarian dermoid cyst	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0031919	Juvenile type ovarian granulosa cell tumor	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0000030	Testicular gonadoblastoma	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0100621	Dysgerminoma	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0100768	Choriocarcinoma	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0030741	Mediastinal teratoma	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0008204	Precocious puberty with Sertoli cell tumor	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0025274	Ovarian dermoid cyst	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0031919	Juvenile type ovarian granulosa cell tumor	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0000030	Testicular gonadoblastoma	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100621	Dysgerminoma	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100768	Choriocarcinoma	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0030741	Mediastinal teratoma	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0008204	Precocious puberty with Sertoli cell tumor	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0030736	Sacrococcygeal teratoma	3	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0100616	Testicular teratoma	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0000149	Ovarian gonadoblastoma	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0100312	Cerebral germinoma	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0030767	Epignathus	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0030983	Ovarian thecoma	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0030755	Craniofacial teratoma	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0011674	Cardiac teratoma	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0012226	Ovarian teratoma	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0100617	Testicular seminoma	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0031227	Nasopharyngeal teratoma	3	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0030737	Altman type I sacrococcygeal teratoma	4	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0025274	Ovarian dermoid cyst	4	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0030739	Altman type III sacrococcygeal teratoma	4	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0030738	Altman type II sacrococcygeal teratoma	4	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0009793	Presacral teratoma	4	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0030738	Altman type II sacrococcygeal teratoma	4	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0009793	Presacral teratoma	4	AR CL E G H	367	90797	ORPHA	1	479	644	313700
HP:0010785	HP:0030737	Altman type I sacrococcygeal teratoma	4	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0025274	Ovarian dermoid cyst	4	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HP:0010785	HP:0030739	Altman type III sacrococcygeal teratoma	4	AR CL E G H	367	90797	ORPHA	1	525	644	313700
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (90) :AKT1 APC2 AR BARD1 BRCA1 BRCA2 BRIP1 C11ORF95 CDC73 CDH1 CDKN1B CDKN1C CDKN2A CHEK2 CREBBP CTNNB1 DHH DICER1 DMRT3 EP300 EPCAM EWSR1 FAN1 FGFR2 FGFR3 FLI1 GATA4 GNAS H19 H19-ICR HNF1B HNF4A IDH1 IDH2 IGF2 INHBA KCNQ1 KCNQ1OT1 KEAP1 KIT KRAS LMNA MAP3K1 MLH1 MLH3 MNX1 MRE11 MSH2 MSH3 MSH6 NBN NR0B1 NR5A1 NSD1 OPCML PALB2 PALLD PAX6 PIK3CA PMS1 PMS2 PRKAR1A PRKN PTCH1 PTCH2 PTEN RAD50 RAD51 RAD51C RAD51D RELA RNF43 SETBP1 SETD2 SMAD4 SOX9 SRY STAG3 STK11 STS SUFU TGFBR2 TP53 VAMP7 VHL WNT10A WRN WT1 WWOX ZFPM2

Diseases (57) :90797 744 145 617883 251636 143 99880 276152 276399 144 83469 87 370348 562 163634 79474 614337 137608 65285 157798 615723 50944 902 167000 99429 1333 130650 180849 168563 233420 251510 123500 273300 180860 93111 213504 613762 194072 1359 77301 109400 158350 269150 1772 281090 892 193300 194080 136680 347 821 180295 1552 480536 798 175200 176450

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

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