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:
Neoplasm of the central nervous system (HP:0100006)

Parent Node:
Abnormal choroid plexus morphology (HP:0007376)

Parent Node:
Malignant neoplasm of the central nervous system (HP:0100836)

..Starting node
..Choroid plexus carcinoma (HP:0030392)

Term ID:

30392

Name:

Choroid plexus carcinoma

Synonym:

Definition:

Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III.

Comments:

Reference:

HP:0030392

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebral germinoma (HP:0100312)

Glioma (HP:0009733)

Medulloblastoma (HP:0002885)

Neuroblastic tumor (HP:0004376)

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:0030392	HP:0030392	Choroid plexus carcinoma	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0030392	HP:0030392	Choroid plexus carcinoma	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0030392	HP:0030392	Choroid plexus carcinoma	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0030392	HP:0030392	Choroid plexus carcinoma	0	SMARCB1 CL E G H	6598	11103	OMIM:609322	Rhabdoid tumor predisposition syndrome 1	.	87
HP:0030392	HP:0030392	Choroid plexus carcinoma	0	TP53 CL E G H	7157	11998	OMIM:202300	Adrenocortical carcinoma, pediatric		911
HP:0030392	HP:0030392	Choroid plexus carcinoma	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911

Genes (5) :CDKN2A CHEK2 MDM2 SMARCB1 TP53

Diseases (3) :ORPHA:524 OMIM:609322 OMIM:202300

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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