Human Phenotype Ontology

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:0010951	HP:0010951	Abnormal third ventricle morphology	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome		36
HP:0010951	HP:0010951	Abnormal third ventricle morphology	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0010951	HP:0010951	Abnormal third ventricle morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0010951	HP:0010951	Abnormal third ventricle morphology	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		145
HP:0010951	HP:0010951	Abnormal third ventricle morphology	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0010951	HP:0010951	Abnormal third ventricle morphology	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0010951	HP:0010951	Abnormal third ventricle morphology	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0010951	HP:0010951	Abnormal third ventricle morphology	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0010951	HP:0010951	Abnormal third ventricle morphology	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0010951	HP:0010951	Abnormal third ventricle morphology	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0010951	HP:0010951	Abnormal third ventricle morphology	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0010951	HP:0010951	Abnormal third ventricle morphology	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome		2
HP:0010951	HP:0032578	Third ventricle colloid cyst	1	CL E G H
HP:0010951	HP:0010661	Absence of the third cerebral ventricle	1	CL E G H
HP:0010951	HP:0007082	Dilated third ventricle	1	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040283 - Occasional	36
HP:0010951	HP:0007082	Dilated third ventricle	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0010951	HP:0007082	Dilated third ventricle	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0010951	HP:0007082	Dilated third ventricle	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0010951	HP:0007082	Dilated third ventricle	1	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0010951	HP:0007082	Dilated third ventricle	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0010951	HP:0007082	Dilated third ventricle	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0010951	HP:0007082	Dilated third ventricle	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0010951	HP:0007082	Dilated third ventricle	1	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:0010951	HP:0007082	Dilated third ventricle	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0010951	HP:0007082	Dilated third ventricle	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0010951	HP:0007082	Dilated third ventricle	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent	2