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:0001765	HP:0001765	Hammertoe	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N	.
HP:0001765	HP:0001765	Hammertoe	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040281 - Very frequent
HP:0001765	HP:0001765	Hammertoe	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0001765	HP:0001765	Hammertoe	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0001765	HP:0001765	Hammertoe	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040282 - Frequent	101
HP:0001765	HP:0001765	Hammertoe	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0001765	HP:0001765	Hammertoe	0	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040283 - Occasional	105
HP:0001765	HP:0001765	Hammertoe	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	.	11
HP:0001765	HP:0001765	Hammertoe	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0001765	HP:0001765	Hammertoe	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0001765	HP:0001765	Hammertoe	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.	2
HP:0001765	HP:0001765	Hammertoe	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001765	HP:0001765	Hammertoe	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	58
HP:0001765	HP:0001765	Hammertoe	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040282 - Frequent	92
HP:0001765	HP:0001765	Hammertoe	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.	1361
HP:0001765	HP:0001765	Hammertoe	0	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0001765	HP:0001765	Hammertoe	0	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040283 - Occasional
HP:0001765	HP:0001765	Hammertoe	0	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA	HP:0040283 - Occasional
HP:0001765	HP:0001765	Hammertoe	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0001765	HP:0001765	Hammertoe	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0001765	HP:0001765	Hammertoe	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.	108
HP:0001765	HP:0001765	Hammertoe	0	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F	.	12
HP:0001765	HP:0001765	Hammertoe	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040283 - Occasional
HP:0001765	HP:0001765	Hammertoe	0	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0001765	HP:0001765	Hammertoe	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency	.	98
HP:0001765	HP:0001765	Hammertoe	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.	135
HP:0001765	HP:0001765	Hammertoe	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001765	HP:0001765	Hammertoe	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.	202
HP:0001765	HP:0001765	Hammertoe	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001765	HP:0001765	Hammertoe	0	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	HP:0040283 - Occasional	102
HP:0001765	HP:0001765	Hammertoe	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.	203
HP:0001765	HP:0001765	Hammertoe	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN		8
HP:0001765	HP:0001765	Hammertoe	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE	.	56
HP:0001765	HP:0001765	Hammertoe	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.	134
HP:0001765	HP:0001765	Hammertoe	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	134
HP:0001765	HP:0001765	Hammertoe	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0001765	HP:0001765	Hammertoe	0	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	.	93
HP:0001765	HP:0001765	Hammertoe	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040283 - Occasional	82
HP:0001765	HP:0001765	Hammertoe	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	.	118
HP:0001765	HP:0001765	Hammertoe	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0001765	HP:0001765	Hammertoe	0	PDXK CL E G H	8566	8819	OMIM:618511	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy	.
HP:0001765	HP:0001765	Hammertoe	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040282 - Frequent	72
HP:0001765	HP:0001765	Hammertoe	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040282 - Frequent	45
HP:0001765	HP:0001765	Hammertoe	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C	.	186
HP:0001765	HP:0001765	Hammertoe	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0001765	HP:0001765	Hammertoe	0	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.	79
HP:0001765	HP:0001765	Hammertoe	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040283 - Occasional	79
HP:0001765	HP:0001765	Hammertoe	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.	79
HP:0001765	HP:0001765	Hammertoe	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	79
HP:0001765	HP:0001765	Hammertoe	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0001765	HP:0001765	Hammertoe	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	170
HP:0001765	HP:0001765	Hammertoe	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.	50
HP:0001765	HP:0001765	Hammertoe	0	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040283 - Occasional	87
HP:0001765	HP:0001765	Hammertoe	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type	.	309
HP:0001765	HP:0001765	Hammertoe	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.	180
HP:0001765	HP:0001765	Hammertoe	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional	493
HP:0001765	HP:0001765	Hammertoe	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0001765	HP:0001765	Hammertoe	0	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2	.	6
HP:0001765	HP:0001765	Hammertoe	0	SLC35A3 CL E G H	23443	11023	ORPHA:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome	HP:0040283 - Occasional	2
HP:0001765	HP:0001765	Hammertoe	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0001765	HP:0001765	Hammertoe	0	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic	.	4
HP:0001765	HP:0001765	Hammertoe	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0001765	HP:0001765	Hammertoe	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0001765	HP:0001765	Hammertoe	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63
HP:0001765	HP:0001765	Hammertoe	0	VCP CL E G H	7415	12666	OMIM:616687	Charcot-Marie-Tooth disease, axonal, type 2Y	.	63