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:0002410	HP:0002410	Aqueductal stenosis	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0002410	HP:0002410	Aqueductal stenosis	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0002410	HP:0002410	Aqueductal stenosis	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040281 - Very frequent	58
HP:0002410	HP:0002410	Aqueductal stenosis	0	FGFR1 CL E G H	2260	3688	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040283 - Occasional	172
HP:0002410	HP:0002410	Aqueductal stenosis	0	FGFR2 CL E G H	2263	3689	ORPHA:93258	Pfeiffer syndrome type 1	HP:0040283 - Occasional	175
HP:0002410	HP:0002410	Aqueductal stenosis	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040282 - Frequent	175
HP:0002410	HP:0002410	Aqueductal stenosis	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0002410	HP:0002410	Aqueductal stenosis	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0002410	HP:0002410	Aqueductal stenosis	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	.	134
HP:0002410	HP:0002410	Aqueductal stenosis	0	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius	HP:0040281 - Very frequent	134
HP:0002410	HP:0002410	Aqueductal stenosis	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0002410	HP:0002410	Aqueductal stenosis	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.	1952
HP:0002410	HP:0002410	Aqueductal stenosis	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	5
HP:0002410	HP:0002410	Aqueductal stenosis	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	1
HP:0002410	HP:0002410	Aqueductal stenosis	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0002410	HP:0002410	Aqueductal stenosis	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002410	HP:0002410	Aqueductal stenosis	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0002410	HP:0002410	Aqueductal stenosis	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0002410	HP:0002410	Aqueductal stenosis	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040282 - Frequent	49
HP:0002410	HP:0002410	Aqueductal stenosis	0	SLC12A6 CL E G H	9990	10914	ORPHA:1496	Corpus callosum agenesis-neuronopathy syndrome	HP:0040282 - Frequent	163
HP:0002410	HP:0002410	Aqueductal stenosis	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0002410	HP:0002410	Aqueductal stenosis	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0002410	HP:0002410	Aqueductal stenosis	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002410	HP:0002410	Aqueductal stenosis	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0002410	HP:0002410	Aqueductal stenosis	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	14
HP:0002410	HP:0002410	Aqueductal stenosis	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39