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:
Gonadal neoplasm (HP:0010785)

Parent Node:
Abnormal internal genitalia (HP:0000812)

Parent Node:
Germ cell neoplasia (HP:0100728)

..Starting node
..Gonadoblastoma (HP:0000150)

Term ID:

150

Name:

Gonadoblastoma

Synonym:

Definition:

The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.

Comments:

Reference:

HP:0000150

Genes and Diseases:

Child Nodes:

........

Testicular gonadoblastoma (HP:0000030)

........

Ovarian gonadoblastoma (HP:0000149)

Sister Nodes:

Germinoma (HP:0100620)

Teratoma (HP:0009792)

Trophoblastic tumor (HP:0031502)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000150	HP:0000150	Gonadoblastoma	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0000150	HP:0000150	Gonadoblastoma	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040283 - Occasional	21
HP:0000150	HP:0000150	Gonadoblastoma	0	DHH CL E G H	50846	2865	OMIM:233420	46,xy sex reversal 7	HP:0040282 - Frequent	21
HP:0000150	HP:0000150	Gonadoblastoma	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent	2
HP:0000150	HP:0000150	Gonadoblastoma	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent	1
HP:0000150	HP:0000150	Gonadoblastoma	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent	87
HP:0000150	HP:0000150	Gonadoblastoma	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0000150	HP:0000150	Gonadoblastoma	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0000150	HP:0000150	Gonadoblastoma	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0000150	HP:0000150	Gonadoblastoma	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0000150	HP:0000150	Gonadoblastoma	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent	13
HP:0000150	HP:0000150	Gonadoblastoma	0	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6	.	13
HP:0000150	HP:0000150	Gonadoblastoma	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent	48
HP:0000150	HP:0000150	Gonadoblastoma	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent	38
HP:0000150	HP:0000150	Gonadoblastoma	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0000150	HP:0000150	Gonadoblastoma	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent	109
HP:0000150	HP:0000150	Gonadoblastoma	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0000150	HP:0000150	Gonadoblastoma	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent	23
HP:0000150	HP:0000150	Gonadoblastoma	0	SRY CL E G H	6736	11311	OMIM:400044	46XY sex reversal 1	.	23
HP:0000150	HP:0000150	Gonadoblastoma	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent	2
HP:0000150	HP:0000150	Gonadoblastoma	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent	177
HP:0000150	HP:0000150	Gonadoblastoma	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome		177
HP:0000150	HP:0000150	Gonadoblastoma	0	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome		177
HP:0000150	HP:0000150	Gonadoblastoma	0	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome	HP:0040282 - Frequent	177
HP:0000150	HP:0000150	Gonadoblastoma	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0000150	HP:0000150	Gonadoblastoma	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent	149
HP:0000150	HP:0000150	Gonadoblastoma	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040282 - Frequent	31
HP:0000150	HP:0000149	Ovarian gonadoblastoma	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	2
HP:0000150	HP:0000030	Testicular gonadoblastoma	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	2
HP:0000150	HP:0000149	Ovarian gonadoblastoma	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	1
HP:0000150	HP:0000030	Testicular gonadoblastoma	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	1
HP:0000150	HP:0000149	Ovarian gonadoblastoma	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	87
HP:0000150	HP:0000030	Testicular gonadoblastoma	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	87
HP:0000150	HP:0000030	Testicular gonadoblastoma	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	13
HP:0000150	HP:0000149	Ovarian gonadoblastoma	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	13
HP:0000150	HP:0000149	Ovarian gonadoblastoma	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	48
HP:0000150	HP:0000030	Testicular gonadoblastoma	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	48
HP:0000150	HP:0000149	Ovarian gonadoblastoma	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	38
HP:0000150	HP:0000030	Testicular gonadoblastoma	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	38
HP:0000150	HP:0000030	Testicular gonadoblastoma	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	109
HP:0000150	HP:0000149	Ovarian gonadoblastoma	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	109
HP:0000150	HP:0000030	Testicular gonadoblastoma	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0000150	HP:0000149	Ovarian gonadoblastoma	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0000150	HP:0000149	Ovarian gonadoblastoma	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	2
HP:0000150	HP:0000030	Testicular gonadoblastoma	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	2
HP:0000150	HP:0000030	Testicular gonadoblastoma	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	177
HP:0000150	HP:0000149	Ovarian gonadoblastoma	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	177
HP:0000150	HP:0000149	Ovarian gonadoblastoma	1	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.	177
HP:0000150	HP:0000149	Ovarian gonadoblastoma	1	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome		177
HP:0000150	HP:0000030	Testicular gonadoblastoma	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	149
HP:0000150	HP:0000149	Ovarian gonadoblastoma	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	149
HP:0000150	HP:0000149	Ovarian gonadoblastoma	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	31
HP:0000150	HP:0000030	Testicular gonadoblastoma	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040283 - Occasional	31

Genes (19) :CDKN1C DHH DHX37 DMRT3 GATA4 H19-ICR IGF2 KCNQ1 KCNQ1OT1 MAP3K1 NR0B1 NR5A1 PAX6 SOX9 SRY VAMP7 WT1 WWOX ZFPM2

Diseases (11) :OMIM:130650 ORPHA:168563 OMIM:233420 ORPHA:251510 OMIM:613762 OMIM:194072 ORPHA:1772 OMIM:400044 OMIM:194080 OMIM:136680 ORPHA:347

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

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