Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Germ cell neoplasia (HP:0100728)

Parent Node:
Abnormal placenta morphology (HP:0100767)

Parent Node:
Trophoblastic tumor (HP:0031502)

..Starting node
..Choriocarcinoma (HP:0100768)

Term ID:

100768

Name:

Choriocarcinoma

Synonym:

Definition:

A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors.

Comments:

Reference:

HP:0100768

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0100768	HP:0100768	Choriocarcinoma	0	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic	.	18
HP:0100768	HP:0100768	Choriocarcinoma	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0100768	HP:0100768	Choriocarcinoma	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0100768	HP:0100768	Choriocarcinoma	0	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic	.	145
HP:0100768	HP:0100768	Choriocarcinoma	0	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic	.	327
HP:0100768	HP:0100768	Choriocarcinoma	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0100768	HP:0100768	Choriocarcinoma	0	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic	.	740
HP:0100768	HP:0100768	Choriocarcinoma	0	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.	911
HP:0100768	HP:0100768	Choriocarcinoma	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911

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.

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