Human Phenotype Ontology 
Grandparent Node:
expand
Gonadal neoplasm (HP:0010785)help
Parent Node:
expand
Germ cell neoplasia (HP:0100728)help
..Starting node
..expand
Trophoblastic tumor (HP:0031502)help
Term ID: 31502
Name: Trophoblastic tumor
Synonym: Trophoblastic tumour
Definition: A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422].
Comments:
Reference: HP:0031502
Genes and Diseases:
 
       Child Nodes:
........expandChoriocarcinoma (HP:0100768) help

 Sister Nodes: 
..expandGerminoma (HP:0100620) help
..expandGonadoblastoma (HP:0000150) help
..expandTeratoma (HP:0009792) 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:0031502HP:0031502Trophoblastic tumor0BCL10 CL E G H8915989OMIM:273300Testicular tumor, somatic18
HP:0031502HP:0031502Trophoblastic tumor0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndrome289
HP:0031502HP:0031502Trophoblastic tumor0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndrome833
HP:0031502HP:0031502Trophoblastic tumor0FGFR3 CL E G H22613690OMIM:273300Testicular tumor, somatic145
HP:0031502HP:0031502Trophoblastic tumor0KIT CL E G H38156342OMIM:273300Testicular tumor, somatic327
HP:0031502HP:0031502Trophoblastic tumor0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndrome1
HP:0031502HP:0031502Trophoblastic tumor0STK11 CL E G H679411389OMIM:273300Testicular tumor, somatic740
HP:0031502HP:0031502Trophoblastic tumor0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndrome911
HP:0031502HP:0031502Trophoblastic tumor0TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome911
HP:0031502HP:0100768Choriocarcinoma1BCL10 CL E G H8915989OMIM:273300Testicular tumor, somatic.18
HP:0031502HP:0100768Choriocarcinoma1CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare289
HP:0031502HP:0100768Choriocarcinoma1CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare833
HP:0031502HP:0100768Choriocarcinoma1FGFR3 CL E G H22613690OMIM:273300Testicular tumor, somatic.145
HP:0031502HP:0100768Choriocarcinoma1KIT CL E G H38156342OMIM:273300Testicular tumor, somatic.327
HP:0031502HP:0100768Choriocarcinoma1MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare1
HP:0031502HP:0100768Choriocarcinoma1STK11 CL E G H679411389OMIM:273300Testicular tumor, somatic.740
HP:0031502HP:0100768Choriocarcinoma1TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome.911
HP:0031502HP:0100768Choriocarcinoma1TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare911


Genes (8) :BCL10 CDKN2A CHEK2 FGFR3 KIT MDM2 STK11 TP53

Diseases (3) :OMIM:273300 ORPHA:524 OMIM:151623
 

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