Human Phenotype Ontology 
Grandparent Node:
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Gonadal neoplasm (HP:0010785)help
Parent Node:
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Germ cell neoplasia (HP:0100728)help
..Starting node
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Germinoma (HP:0100620)help
Term ID: 100620
Name: Germinoma
Synonym:
Definition: A type of undifferentiated germ cell tumor that may be benign or malignant.
Comments:
Reference: HP:0100620
Genes and Diseases:
 
       Child Nodes:
........expandCerebral germinoma (HP:0100312) help
........expandTesticular seminoma (HP:0100617) help
........expandDysgerminoma (HP:0100621) help

 Sister Nodes: 
..expandGonadoblastoma (HP:0000150) help
..expandTeratoma (HP:0009792) help
..expandTrophoblastic tumor (HP:0031502) 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:0100620HP:0100620Germinoma0AKT1 CL E G H207391OMIM:167000Ovarian cancer54
HP:0100620HP:0100620Germinoma0CDH1 CL E G H9991748OMIM:167000Ovarian cancer1003
HP:0100620HP:0100620Germinoma0CTNNB1 CL E G H14992514OMIM:167000Ovarian cancer88
HP:0100620HP:0100620Germinoma0DHH CL E G H508462865OMIM:23342046,xy sex reversal 721
HP:0100620HP:0100620Germinoma0DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiter670
HP:0100620HP:0100620Germinoma0ERBB2 CL E G H20643430OMIM:167000Ovarian cancer77
HP:0100620HP:0100620Germinoma0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome175
HP:0100620HP:0100620Germinoma0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0100620HP:0100620Germinoma0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0100620HP:0100620Germinoma0KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiter
HP:0100620HP:0100620Germinoma0MAP3K1 CL E G H42146848OMIM:61376246,xy sex reversal 613
HP:0100620HP:0100620Germinoma0OPCML CL E G H49788143OMIM:167000Ovarian cancer5
HP:0100620HP:0100620Germinoma0PIK3CA CL E G H52908975OMIM:167000Ovarian cancer162
HP:0100620HP:0100620Germinoma0PRKN CL E G H50718607OMIM:167000Ovarian cancer138
HP:0100620HP:0100620Germinoma0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosis19
HP:0100620HP:0100312Cerebral germinoma1 CL E G H
HP:0100620HP:0100621Dysgerminoma1AKT1 CL E G H207391OMIM:167000Ovarian cancer.54
HP:0100620HP:0100621Dysgerminoma1CDH1 CL E G H9991748OMIM:167000Ovarian cancer.1003
HP:0100620HP:0100621Dysgerminoma1CTNNB1 CL E G H14992514OMIM:167000Ovarian cancer.88
HP:0100620HP:0100621Dysgerminoma1DHH CL E G H508462865OMIM:23342046,xy sex reversal 721
HP:0100620HP:0100617Testicular seminoma1DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent670
HP:0100620HP:0100621Dysgerminoma1ERBB2 CL E G H20643430OMIM:167000Ovarian cancer.77
HP:0100620HP:0100621Dysgerminoma1FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome.175
HP:0100620HP:0100617Testicular seminoma1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0100620HP:0100617Testicular seminoma1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0100620HP:0100617Testicular seminoma1KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent
HP:0100620HP:0100621Dysgerminoma1MAP3K1 CL E G H42146848OMIM:61376246,xy sex reversal 6.13
HP:0100620HP:0100621Dysgerminoma1OPCML CL E G H49788143OMIM:167000Ovarian cancer.5
HP:0100620HP:0100621Dysgerminoma1PIK3CA CL E G H52908975OMIM:167000Ovarian cancer.162
HP:0100620HP:0100621Dysgerminoma1PRKN CL E G H50718607OMIM:167000Ovarian cancer.138
HP:0100620HP:0100617Testicular seminoma1STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosisHP:0040283 - Occasional19


Genes (15) :AKT1 CDH1 CTNNB1 DHH DICER1 ERBB2 FGFR2 H19-ICR IGF2 KEAP1 MAP3K1 OPCML PIK3CA PRKN STS

Diseases (7) :OMIM:167000 OMIM:233420 ORPHA:276399 OMIM:123500 OMIM:180860 OMIM:613762 ORPHA:281090
 

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