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 lateral ventricle morphology (HP:0030047)

Parent Node:
Ventriculomegaly (HP:0002119)

..Starting node
..Lateral ventricle dilatation (HP:0006956)

Term ID:

6956

Name:

Lateral ventricle dilatation

Synonym:

Dilatation of lateral cerebral ventricles; Dilation of lateral ventricles; Enlarged lateral ventricles; Lateral ventricle dilatation

Definition:

Comments:

Reference:

HP:0006956

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dilated fourth ventricle (HP:0002198)

Dilated third ventricle (HP:0007082)

Enlarged cisterna magna (HP:0002280)

Enlarged fossa interpeduncularis (HP:0100951)

Enlarged interhemispheric fissure (HP:0100953)

Enlarged sylvian cistern (HP:0100952)

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:0006956	HP:0006956	Lateral ventricle dilatation	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040283 - Occasional	46
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040283 - Occasional	36
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional	145
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.	115
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	8
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3	.	3
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional	101
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional	40
HP:0006956	HP:0006956	Lateral ventricle dilatation	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:0006956	HP:0006956	Lateral ventricle dilatation	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	88
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040283 - Occasional	10
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional	27
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS		3
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent	287
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional	39
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0006956	HP:0006956	Lateral ventricle dilatation	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34

Genes (72) :AHI1 ALG2 ASXL3 ATP6AP2 CCDC174 CLCN3 CLTC COG5 CSPP1 D2HGDH DCX DTYMK EZH2 FBXW11 GAN GCDH GFM2 GLUL GRIN1 GRN HS6ST2 KDM6A KIAA0586 KIAA0753 KIDINS220 KLHL15 KMT2D LIPT2 LONP1 MAPKAPK5 MED25 MEF2C NDUFB11 NEK1 NFIX ODC1 PDHA1 PIGA PPP2R5D PSAT1 PTPN23 PUS3 RAB3GAP1 RAC1 RNU4ATAC RNU7-1 SATB1 SLC35A2 SMG9 SNRPN SON SPG11 SPRED2 TAF8 TAOK1 TMEM147 TNFRSF11A TTC26 TTC5 TUBB2B TUBB3 TYROBP USP18 VPS13A VPS51 VRK1 WARS2 YIPF5 YY1 ZEB2 ZIC1 ZIC2

Diseases (71) :OMIM:608629 ORPHA:79326 OMIM:615485 ORPHA:363654 OMIM:616816 OMIM:619517 OMIM:617854 ORPHA:263487 ORPHA:397715 OMIM:600721 ORPHA:2148 OMIM:619847 OMIM:277590 OMIM:618914 OMIM:256850 OMIM:231670 ORPHA:565624 OMIM:610015 ORPHA:208447 OMIM:607485 OMIM:301025 OMIM:147920 OMIM:619479 OMIM:617296 OMIM:300982 OMIM:617668 ORPHA:79243 OMIM:619869 ORPHA:464738 OMIM:613443 OMIM:300952 OMIM:263520 ORPHA:420179 ORPHA:544488 OMIM:300868 ORPHA:457279 ORPHA:284417 OMIM:618890 ORPHA:488627 OMIM:619420 OMIM:617751 OMIM:210710 OMIM:619487 OMIM:619229 OMIM:300896 ORPHA:356961 OMIM:619995 ORPHA:177907 ORPHA:500150 ORPHA:2822 OMIM:619745 OMIM:619972 OMIM:619575 OMIM:620075 OMIM:612301 OMIM:619534 OMIM:619244 ORPHA:300573 ORPHA:300570 OMIM:221770 OMIM:617397 ORPHA:2388 OMIM:618606 OMIM:607596 ORPHA:572798 OMIM:619278 OMIM:617557 ORPHA:261552 ORPHA:261537 OMIM:618736 OMIM:609637

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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