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:0001833	HP:0001833	Long foot	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0001833	HP:0001833	Long foot	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0001833	HP:0001833	Long foot	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	95
HP:0001833	HP:0001833	Long foot	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0001833	HP:0001833	Long foot	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0001833	HP:0001833	Long foot	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0001833	HP:0001833	Long foot	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0001833	HP:0001833	Long foot	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0001833	HP:0001833	Long foot	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.	4
HP:0001833	HP:0001833	Long foot	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0001833	HP:0001833	Long foot	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0001833	HP:0001833	Long foot	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0001833	HP:0001833	Long foot	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0001833	HP:0001833	Long foot	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0001833	HP:0001833	Long foot	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent	16
HP:0001833	HP:0001833	Long foot	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0001833	HP:0001833	Long foot	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional	229
HP:0001833	HP:0001833	Long foot	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0001833	HP:0001833	Long foot	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	462
HP:0001833	HP:0001833	Long foot	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0001833	HP:0001833	Long foot	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent	1952
HP:0001833	HP:0001833	Long foot	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001833	HP:0001833	Long foot	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.	24
HP:0001833	HP:0001833	Long foot	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0001833	HP:0001833	Long foot	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0001833	HP:0001833	Long foot	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0001833	HP:0001833	Long foot	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0001833	HP:0001833	Long foot	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0001833	HP:0001833	Long foot	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0001833	HP:0001833	Long foot	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0001833	HP:0001833	Long foot	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040283 - Occasional	40
HP:0001833	HP:0001833	Long foot	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0001833	HP:0001833	Long foot	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent	13
HP:0001833	HP:0001833	Long foot	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33