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:
Ventriculomegaly (HP:0002119)

..Starting node
..Dilated third ventricle (HP:0007082)

Term ID:

7082

Name:

Dilated third ventricle

Synonym:

Definition:

An increase in size of the third ventricle.

Comments:

Reference:

HP:0007082

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dilated fourth ventricle (HP:0002198)

Enlarged cisterna magna (HP:0002280)

Enlarged fossa interpeduncularis (HP:0100951)

Enlarged interhemispheric fissure (HP:0100953)

Enlarged sylvian cistern (HP:0100952)

Lateral ventricle dilatation (HP:0006956)

Mild fetal ventriculomegaly (HP:0010952)

Progressive ventriculomegaly (HP:0007100)

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:0007082	HP:0007082	Dilated third ventricle	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040283 - Occasional	36
HP:0007082	HP:0007082	Dilated third ventricle	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0007082	HP:0007082	Dilated third ventricle	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0007082	HP:0007082	Dilated third ventricle	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0007082	HP:0007082	Dilated third ventricle	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0007082	HP:0007082	Dilated third ventricle	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0007082	HP:0007082	Dilated third ventricle	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0007082	HP:0007082	Dilated third ventricle	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0007082	HP:0007082	Dilated third ventricle	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0007082	HP:0007082	Dilated third ventricle	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0007082	HP:0007082	Dilated third ventricle	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0007082	HP:0007082	Dilated third ventricle	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent	2

Genes (12) :ATP6AP2 C2CD3 CSPP1 DNMT1 KCNN2 KIAA0586 KIDINS220 MED25 ODC1 TAOK1 TTC5 USP7

Diseases (11) :ORPHA:363654 ORPHA:434179 ORPHA:397715 ORPHA:314404 OMIM:619725 OMIM:617296 ORPHA:464738 ORPHA:544488 OMIM:619575 OMIM:619244 ORPHA:500055

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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