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:0100777	HP:0100777	Exostoses	0	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	.	34
HP:0100777	HP:0100777	Exostoses	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0100777	HP:0100777	Exostoses	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina		132
HP:0100777	HP:0100777	Exostoses	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	132
HP:0100777	HP:0100777	Exostoses	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent	192
HP:0100777	HP:0100777	Exostoses	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0100777	HP:0100777	Exostoses	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040281 - Very frequent	192
HP:0100777	HP:0100777	Exostoses	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0100777	HP:0100777	Exostoses	0	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0100777	HP:0100777	Exostoses	0	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	284
HP:0100777	HP:0100777	Exostoses	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040281 - Very frequent	284
HP:0100777	HP:0100777	Exostoses	0	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I		96
HP:0100777	HP:0100777	Exostoses	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas		96
HP:0100777	HP:0100777	Exostoses	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	96
HP:0100777	HP:0100777	Exostoses	0	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II		102
HP:0100777	HP:0100777	Exostoses	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas		102
HP:0100777	HP:0100777	Exostoses	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	102
HP:0100777	HP:0100777	Exostoses	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040283 - Occasional	102
HP:0100777	HP:0100777	Exostoses	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040282 - Frequent	15
HP:0100777	HP:0100777	Exostoses	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040282 - Frequent	29
HP:0100777	HP:0100777	Exostoses	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0100777	HP:0100777	Exostoses	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina		45
HP:0100777	HP:0100777	Exostoses	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	2
HP:0100777	HP:0100777	Exostoses	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0100777	HP:0100777	Exostoses	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040282 - Frequent	948
HP:0100777	HP:0100777	Exostoses	0	PTPN11 CL E G H	5781	9644	OMIM:156250	METACHONDROMATOSIS		291
HP:0100777	HP:0100777	Exostoses	0	PTPN11 CL E G H	5781	9644	ORPHA:2499	Metachondromatosis	HP:0040281 - Very frequent	291
HP:0100777	HP:0100777	Exostoses	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	.	25
HP:0100777	HP:0100777	Exostoses	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0100777	HP:0100777	Exostoses	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0100777	HP:0100777	Exostoses	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	171
HP:0100777	HP:0004276	Exostoses of hand bones	1	CL E G H
HP:0100777	HP:0003960	Exostoses of the forearm bones	1	CL E G H
HP:0100777	HP:0002762	Multiple exostoses	1	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	132
HP:0100777	HP:0003276	Pelvic bone exostoses	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0100777	HP:0004459	Exostosis of the external auditory canal	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0100777	HP:0000918	Scapular exostoses	1	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	.	96
HP:0100777	HP:0002762	Multiple exostoses	1	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I		96
HP:0100777	HP:0003276	Pelvic bone exostoses	1	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	.	96
HP:0100777	HP:0000896	Rib exostoses	1	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	.	96
HP:0100777	HP:0000896	Rib exostoses	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	96
HP:0100777	HP:0000918	Scapular exostoses	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	96
HP:0100777	HP:0002762	Multiple exostoses	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0100777	HP:0000896	Rib exostoses	1	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II	.	102
HP:0100777	HP:0000918	Scapular exostoses	1	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II	.	102
HP:0100777	HP:0003276	Pelvic bone exostoses	1	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II	.	102
HP:0100777	HP:0002762	Multiple exostoses	1	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II		102
HP:0100777	HP:0000896	Rib exostoses	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	102
HP:0100777	HP:0000918	Scapular exostoses	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	102
HP:0100777	HP:0004459	Exostosis of the external auditory canal	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0100777	HP:0002762	Multiple exostoses	1	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	45
HP:0100777	HP:0002762	Multiple exostoses	1	PTPN11 CL E G H	5781	9644	OMIM:156250	METACHONDROMATOSIS		291
HP:0100777	HP:0002762	Multiple exostoses	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0100777	HP:0002762	Multiple exostoses	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0100777	HP:0003986	Exostoses of the radius	2	CL E G H
HP:0100777	HP:0003985	Exostoses of the ulna	2	CL E G H
HP:0100777	HP:0003872	Humeral exostoses	2	CL E G H
HP:0100777	HP:0005039	Multiple long-bone exostoses	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	96
HP:0100777	HP:0005655	Multiple digital exostoses	2	PTPN11 CL E G H	5781	9644	OMIM:156250	METACHONDROMATOSIS	.	291
HP:0100777	HP:0005039	Multiple long-bone exostoses	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	171
HP:0100777	HP:0004017	Exostoses of the radial metaphysis	3	CL E G H