Human Phenotype Ontology

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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:
Abnormal cerebral ventricle morphology (HP:0002118)

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

..Starting node
..Choroid plexus cyst (HP:0002190)

Term ID:

2190

Name:

Choroid plexus cyst

Synonym:

Definition:

A cyst occurring within the choroid plexus within a cerebral ventricle.

Comments:

Reference:

HP:0002190

Genes and Diseases:

Child Nodes:

Sister Nodes:

Choroid plexus calcification (HP:0006960)

Choroid plexus carcinoma (HP:0030392)

Choroid plexus papilloma (HP:0200022)

Villous hypertrophy of choroid plexus (HP:0012422)

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:0002190	HP:0002190	Choroid plexus cyst	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0002190	HP:0002190	Choroid plexus cyst	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0002190	HP:0002190	Choroid plexus cyst	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0002190	HP:0002190	Choroid plexus cyst	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0002190	HP:0002190	Choroid plexus cyst	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0002190	HP:0002190	Choroid plexus cyst	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0002190	HP:0002190	Choroid plexus cyst	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0002190	HP:0002190	Choroid plexus cyst	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0002190	HP:0002190	Choroid plexus cyst	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0002190	HP:0002190	Choroid plexus cyst	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040282 - Frequent	5

Genes (9) :EXOC8 FH FOXF1 IFT43 NPHP3 PHGDH SETBP1 ZBTB18 ZSWIM6

Diseases (10) :OMIM:619076 OMIM:606812 OMIM:265380 OMIM:617866 OMIM:267010 OMIM:256520 ORPHA:798 OMIM:612337 OMIM:603671 ORPHA:1827

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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