Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the ovary (HP:0000137)help
Grandparent Node:
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Gonadal neoplasm (HP:0010785)help
Parent Node:
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Gonadoblastoma (HP:0000150)help
Parent Node:
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Ovarian neoplasm (HP:0100615)help
..Starting node
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Ovarian gonadoblastoma (HP:0000149)help
Term ID: 149
Name: Ovarian gonadoblastoma
Synonym: Gonadoblastoma, female
Definition: The presence of a gonadoblastoma of the ovary.
Comments:
Reference: HP:0000149
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDysgerminoma (HP:0100621) help
..expandOvarian carcinoma (HP:0025318) help
..expandOvarian fibroma (HP:0010618) help
..expandOvarian papillary adenocarcinoma (HP:0006774) help
..expandOvarian teratoma (HP:0012226) help
..expandOvarian thecoma (HP:0030983) 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:0000149HP:0000149Ovarian gonadoblastoma0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional2
HP:0000149HP:0000149Ovarian gonadoblastoma0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional1
HP:0000149HP:0000149Ovarian gonadoblastoma0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional87
HP:0000149HP:0000149Ovarian gonadoblastoma0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional13
HP:0000149HP:0000149Ovarian gonadoblastoma0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional48
HP:0000149HP:0000149Ovarian gonadoblastoma0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional38
HP:0000149HP:0000149Ovarian gonadoblastoma0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional109
HP:0000149HP:0000149Ovarian gonadoblastoma0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional23
HP:0000149HP:0000149Ovarian gonadoblastoma0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional2
HP:0000149HP:0000149Ovarian gonadoblastoma0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional177
HP:0000149HP:0000149Ovarian gonadoblastoma0WT1 CL E G H749012796OMIM:194080Denys-Drash syndrome.177
HP:0000149HP:0000149Ovarian gonadoblastoma0WT1 CL E G H749012796OMIM:136680Frasier syndrome177
HP:0000149HP:0000149Ovarian gonadoblastoma0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional149
HP:0000149HP:0000149Ovarian gonadoblastoma0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional31


Genes (12) :DHX37 DMRT3 GATA4 MAP3K1 NR0B1 NR5A1 SOX9 SRY VAMP7 WT1 WWOX ZFPM2

Diseases (3) :ORPHA:251510 OMIM:194080 OMIM:136680
 

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