Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001761	HP:0001761	Pes cavus	0	AARS CL E G H	16	613287	Charcot-Marie-Tooth disease, type 2N	613287	C2750090	OMIM	1	21		20	601065
HP:0001761	HP:0001761	Pes cavus	0	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	21	161	15868	613599
HP:0001761	HP:0001761	Pes cavus	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	217	272	129	102610
HP:0001761	HP:0001761	Pes cavus	0	AIFM1 CL E G H	9131	101078				ORPHA	1	33	343	8768	300169
HP:0001761	HP:0001761	Pes cavus	0	ALDH18A1 CL E G H	5832	447753				ORPHA	1	33	252	9722	138250
HP:0001761	HP:0001761	Pes cavus	0	ALDH18A1 CL E G H	5832	601162	Spastic paraplegia 9	601162	C1832669	OMIM	1	33	252	9722	138250
HP:0001761	HP:0001761	Pes cavus	0	ALS2 CL E G H	57679	607225	Infantile-onset ascending hereditary spastic paralysis	607225	C2931441	OMIM	1	73	347	443	606352
HP:0001761	HP:0001761	Pes cavus	0	ANO10 CL E G H	55129	284289				ORPHA	1	19	153	25519	613726
HP:0001761	HP:0001761	Pes cavus	0	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	19	153	25519	613726
HP:0001761	HP:0001761	Pes cavus	0	ANOS1 CL E G H	3730	308700	Kallmann syndrome 1	308700	C1563719	OMIM	1	191	346	6211	300836
HP:0001761	HP:0001761	Pes cavus	0	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	46	179	15984	606350
HP:0001761	HP:0001761	Pes cavus	0	ATL1 CL E G H	51062	613708	Hereditary sensory neuropathy type 1D	613708	C3150972	OMIM	1	85	220	11231	606439
HP:0001761	HP:0001761	Pes cavus	0	ATL1 CL E G H	51062	182600	Spastic paraplegia 3	182600	C2931355	OMIM	1	85	220	11231	606439
HP:0001761	HP:0001761	Pes cavus	0	ATP1A3 CL E G H	478	601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss	601338	C1832466	OMIM	1	122	407	801	182350
HP:0001761	HP:0001761	Pes cavus	0	ATP7A CL E G H	538	300489	Distal spinal muscular atrophy, X-linked 3	300489	C1845359	OMIM	1	357	607	869	300011
HP:0001761	HP:0001761	Pes cavus	0	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	15	181	20207	610308
HP:0001761	HP:0001761	Pes cavus	0	B4GALNT1 CL E G H	2583	609195	Spastic paraplegia 26	609195	C1836632	OMIM	1	13	97	4117	601873
HP:0001761	HP:0001761	Pes cavus	0	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	68	449	939	603883
HP:0001761	HP:0001761	Pes cavus	0	BSCL2 CL E G H	26580	270685	Spastic paraplegia 17	270685	CN074197	OMIM	1	50	263	15832	606158
HP:0001761	HP:0001761	Pes cavus	0	C19orf12 CL E G H	83636	320370				ORPHA	1	38	206	25443	614297
HP:0001761	HP:0001761	Pes cavus	0	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	38	206	25443	614297
HP:0001761	HP:0001761	Pes cavus	0	C19orf12 CL E G H	83636	615043	Spastic paraplegia 43, autosomal recessive	615043	C2680446	OMIM	1	38	206	25443	614297
HP:0001761	HP:0001761	Pes cavus	0	CAPN1 CL E G H	823	488594				ORPHA	1	18	42	1476	114220
HP:0001761	HP:0001761	Pes cavus	0	CAV3 CL E G H	859	614321	Distal myopathy, Tateyama type	614321	C3280443	OMIM	1	50	285	1529	601253
HP:0001761	HP:0001761	Pes cavus	0	CHCHD10 CL E G H	400916	615048	Spinal muscular atrophy, jokela type	615048	C3554398	OMIM	1	27	163	15559	615903
HP:0001761	HP:0001761	Pes cavus	0	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	3	106	8740	164010
HP:0001761	HP:0001761	Pes cavus	0	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	43	306	16812	606980
HP:0001761	HP:0001761	Pes cavus	0	COX6A1 CL E G H	1337	616039	Charcot-Marie-Tooth disease, recessive intermediate d	616039	C4015029	OMIM	1	1	27	2277	602072
HP:0001761	HP:0001761	Pes cavus	0	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	1	247	2498	604927
HP:0001761	HP:0001761	Pes cavus	0	CUL4B CL E G H	8450	85293				ORPHA	1	40	247	2555	300304
HP:0001761	HP:0001761	Pes cavus	0	CUL4B CL E G H	8450	300354	Syndromic X-linked mental retardation, Cabezas type	300354	C1845861	OMIM	1	40	247	2555	300304
HP:0001761	HP:0001761	Pes cavus	0	CYP7B1 CL E G H	9420	100986				ORPHA	1	63	199	2652	603711
HP:0001761	HP:0001761	Pes cavus	0	DCAF8 CL E G H	50717	610100	Giant axonal neuropathy 2, autosomal dominant	610100	C1864695	OMIM	1	1	25	24891	615820
HP:0001761	HP:0001761	Pes cavus	0	DDHD1 CL E G H	80821	101008				ORPHA	1	13	128	19714	614603
HP:0001761	HP:0001761	Pes cavus	0	DDHD1 CL E G H	80821	609340	Spastic paraplegia 28, autosomal recessive	609340	C1836295	OMIM	1	13	128	19714	614603
HP:0001761	HP:0001761	Pes cavus	0	DNAJC6 CL E G H	9829	391411				ORPHA	1	14	83	15469	608375
HP:0001761	HP:0001761	Pes cavus	0	DNM2 CL E G H	1785	606482	Charcot-Marie-Tooth disease, dominant intermediate B	606482	C1847902	OMIM	1	52	506	2974	602378
HP:0001761	HP:0001761	Pes cavus	0	DYNC1H1 CL E G H	1778	614228	Charcot-Marie-Tooth disease, axonal, type 2O	614228	C3280220	OMIM	1	77	1453	2961	600112
HP:0001761	HP:0001761	Pes cavus	0	EGR2 CL E G H	1959	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	24	197	3239	129010
HP:0001761	HP:0001761	Pes cavus	0	ERLIN2 CL E G H	11160	611225	Spastic paraplegia 18	611225	C2749936	OMIM	1	15	103	1356	611605
HP:0001761	HP:0001761	Pes cavus	0	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	42	235	3527	601573
HP:0001761	HP:0001761	Pes cavus	0	FBLN5 CL E G H	10516	608895	Age-related macular degeneration 3	608895	C1837187	OMIM	1	23	142	3602	604580
HP:0001761	HP:0001761	Pes cavus	0	FBN1 CL E G H	2200	154700	Marfan syndrome	154700	C0024796	OMIM	1	2721	4284	3603	134797
HP:0001761	HP:0001761	Pes cavus	0	FGD4 CL E G H	121512	609311	Charcot-Marie-Tooth disease, type 4H	609311	C1836336	OMIM	1	30	415	19125	611104
HP:0001761	HP:0001761	Pes cavus	0	FGF14 CL E G H	2259	98764				ORPHA	1	10	163	3671	601515
HP:0001761	HP:0001761	Pes cavus	0	FLRT1 CL E G H	23769	320406				ORPHA	1	1	69	3760	604806
HP:0001761	HP:0001761	Pes cavus	0	FXN CL E G H	2395	95				ORPHA	1	66	101	3951	606829
HP:0001761	HP:0001761	Pes cavus	0	FXN CL E G H	2395	229300	Friedreich ataxia 1	229300	C1856689	OMIM	1	66	101	3951	606829
HP:0001761	HP:0001761	Pes cavus	0	GAN CL E G H	8139	643				ORPHA	1	80	435	4137	605379
HP:0001761	HP:0001761	Pes cavus	0	GAN CL E G H	8139	256850	Giant axonal neuropathy	256850	C1850386	OMIM	1	80	435	4137	605379
HP:0001761	HP:0001761	Pes cavus	0	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1	41		4162	600287
HP:0001761	HP:0001761	Pes cavus	0	GBA CL E G H	2629	231005	Gaucher disease type 3C	231005	C1856476	OMIM	1	494	206	4177	606463
HP:0001761	HP:0001761	Pes cavus	0	GBA2 CL E G H	57704	614409	Spastic paraplegia 46, autosomal recessive	614409	C2828721	OMIM	1	23	194	18986	609471
HP:0001761	HP:0001761	Pes cavus	0	GCH1 CL E G H	2643	98808				ORPHA	1	252	208	4193	600225
HP:0001761	HP:0001761	Pes cavus	0	GCH1 CL E G H	2643	128230	Dystonia 5, Dopa-responsive type	128230	C1851920	OMIM	1	252	208	4193	600225
HP:0001761	HP:0001761	Pes cavus	0	GDAP1 CL E G H	54332	607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive	607706	C1843183	OMIM	1	103	351	15968	606598
HP:0001761	HP:0001761	Pes cavus	0	GDAP1 CL E G H	54332	608340	Charcot-Marie-Tooth disease, recessive intermediate A	608340	C1842197	OMIM	1	103	351	15968	606598
HP:0001761	HP:0001761	Pes cavus	0	GJB1 CL E G H	2705	101075				ORPHA	1	499	668	4283	304040
HP:0001761	HP:0001761	Pes cavus	0	GJB1 CL E G H	2705	1175	CDK4 linked melanoma			ORPHA	1	499	668	4283	304040
HP:0001761	HP:0001761	Pes cavus	0	GJB1 CL E G H	2705	302800	X-linked hereditary motor and sensory neuropathy	302800	C0393808	OMIM	1	499	668	4283	304040
HP:0001761	HP:0001761	Pes cavus	0	GJB2 CL E G H	2706	602540	Hystrix-like ichthyosis with deafness	602540	C1865234	OMIM	1	410	385	4284	121011
HP:0001761	HP:0001761	Pes cavus	0	GJB2 CL E G H	2706	148210	Keratitis-ichthyosis-deafness syndrome, autosomal dominant	148210	C1835678	OMIM	1	410	385	4284	121011
HP:0001761	HP:0001761	Pes cavus	0	GJC2 CL E G H	57165	320401				ORPHA	1	57	133	17494	608803
HP:0001761	HP:0001761	Pes cavus	0	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	57	133	17494	608803
HP:0001761	HP:0001761	Pes cavus	0	GNB4 CL E G H	59345	615185	Charcot-Marie-Tooth disease, dominant intermediate F	615185	C3554654	OMIM	1	5	106	20731	610863
HP:0001761	HP:0001761	Pes cavus	0	HARS CL E G H	3035	488333				ORPHA	1	13		4816	142810
HP:0001761	HP:0001761	Pes cavus	0	HARS CL E G H	3035	616625	Charcot-Marie-Tooth disease, axonal, type 2w	616625	C4225265	OMIM	1	13		4816	142810
HP:0001761	HP:0001761	Pes cavus	0	HDAC8 CL E G H	55869	3459				ORPHA	1	56	227	13315	300269
HP:0001761	HP:0001761	Pes cavus	0	HSD17B4 CL E G H	3295	233400	Perrault syndrome 1	233400		OMIM	1	101	305	5213	601860
HP:0001761	HP:0001761	Pes cavus	0	HSPB1 CL E G H	3315	606595	Charcot-Marie-Tooth disease type 2F	606595	C1847823	OMIM	1	48	226	5246	602195
HP:0001761	HP:0001761	Pes cavus	0	HSPB8 CL E G H	26353	608673	Charcot-Marie-Tooth disease, type 2L	608673	C1837552	OMIM	1	10	123	30171	608014
HP:0001761	HP:0001761	Pes cavus	0	IBA57 CL E G H	200205	468661				ORPHA	1	23	113	27302	615316
HP:0001761	HP:0001761	Pes cavus	0	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	640	424	5389	300823
HP:0001761	HP:0001761	Pes cavus	0	IDUA CL E G H	3425	607016	Mucopolysaccharidosis, MPS-I-S	607016	C0026708	OMIM	1	291	622	5391	252800
HP:0001761	HP:0001761	Pes cavus	0	IFIH1 CL E G H	64135	182250	Singleton-Merten syndrome 1	182250	C4225427	OMIM	1	28	286	18873	606951
HP:0001761	HP:0001761	Pes cavus	0	IFRD1 CL E G H	3475	98771				ORPHA	1	3	41	5456	603502
HP:0001761	HP:0001761	Pes cavus	0	INF2 CL E G H	64423	614455	Charcot-Marie-Tooth disease, dominant intermediate E	614455	C3280845	OMIM	1	73	625	23791	610982
HP:0001761	HP:0001761	Pes cavus	0	IQSEC2 CL E G H	23096	217377				ORPHA	1	57	539	29059	300522
HP:0001761	HP:0001761	Pes cavus	0	KARS CL E G H	3735	613641	Charcot-Marie-Tooth disease, recessive intermediate B	613641	C3150897	OMIM	1	25		6215	601421
HP:0001761	HP:0001761	Pes cavus	0	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	13	532	16636	605995
HP:0001761	HP:0001761	Pes cavus	0	KIF5A CL E G H	3798	604187	Spastic paraplegia 10	604187	C1858712	OMIM	1	69	249	6323	602821
HP:0001761	HP:0001761	Pes cavus	0	KLC2 CL E G H	64837	320406				ORPHA	1	3	25	20716	611729
HP:0001761	HP:0001761	Pes cavus	0	KLC2 CL E G H	64837	609541	Spastic paraplegia, optic atrophy, and neuropathy	609541	C1836010	OMIM	1	3	25	20716	611729
HP:0001761	HP:0001761	Pes cavus	0	L1CAM CL E G H	3897	303350	Spastic paraplegia 1	303350	C0795953	OMIM	1	293	519	6470	308840
HP:0001761	HP:0001761	Pes cavus	0	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	103	535	6501	309060
HP:0001761	HP:0001761	Pes cavus	0	LAS1L CL E G H	81887	3459				ORPHA	1	4	172	25726	300964
HP:0001761	HP:0001761	Pes cavus	0	LAS1L CL E G H	81887	309585	Wilson-Turner X-linked mental retardation syndrome	309585	C1839736	OMIM	1	4	172	25726	300964
HP:0001761	HP:0001761	Pes cavus	0	LITAF CL E G H	9516	601098	Charcot-Marie-Tooth disease, type 1C	601098	C0270913	OMIM	1	19	202	16841	603795
HP:0001761	HP:0001761	Pes cavus	0	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	574	1152	6636	150330
HP:0001761	HP:0001761	Pes cavus	0	LRSAM1 CL E G H	90678	614436	Charcot-Marie-Tooth disease type 2P	614436	C3280797	OMIM	1	16	442	25135	610933
HP:0001761	HP:0001761	Pes cavus	0	MAFB CL E G H	9935	166300	Multicentric osteolysis nephropathy	166300	C2674705	OMIM	1	25	105	6408	608968
HP:0001761	HP:0001761	Pes cavus	0	MECP2 CL E G H	4204	300055	Mental retardation, X-linked, syndromic 13	300055	C1968550	OMIM	1	1050	1442	6990	300005
HP:0001761	HP:0001761	Pes cavus	0	MFN2 CL E G H	9927	99947				ORPHA	1	231	680	16877	608507
HP:0001761	HP:0001761	Pes cavus	0	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	231	680	16877	608507
HP:0001761	HP:0001761	Pes cavus	0	MFN2 CL E G H	9927	609260	Charcot-Marie-Tooth disease, type 2A2A	609260	C1836485	OMIM	1	231	680	16877	608507
HP:0001761	HP:0001761	Pes cavus	0	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	231	680	16877	608507
HP:0001761	HP:0001761	Pes cavus	0	MME CL E G H	4311	497764				ORPHA	1	28	91	7154	120520
HP:0001761	HP:0001761	Pes cavus	0	MME CL E G H	4311	617018	Spinocerebellar ataxia 43	617018	C4310763	OMIM	1	28	91	7154	120520
HP:0001761	HP:0001761	Pes cavus	0	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	27	148	7166	120360
HP:0001761	HP:0001761	Pes cavus	0	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	1	18	267	23573	616661
HP:0001761	HP:0001761	Pes cavus	0	MPZ CL E G H	4359	607677	Charcot-Marie-Tooth disease type 2I	607677	C3888087	OMIM	1	246	444	7225	159440
HP:0001761	HP:0001761	Pes cavus	0	MPZ CL E G H	4359	607736	Charcot-Marie-Tooth disease type 2J	607736	C1843153	OMIM	1	246	444	7225	159440
HP:0001761	HP:0001761	Pes cavus	0	MPZ CL E G H	4359	118200	Charcot-Marie-Tooth disease, demyelinating, type 1b	118200	C0270912	OMIM	1	246	444	7225	159440
HP:0001761	HP:0001761	Pes cavus	0	MPZ CL E G H	4359	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	246	444	7225	159440
HP:0001761	HP:0001761	Pes cavus	0	MPZ CL E G H	4359	180800	Roussy-Lévy syndrome	180800	C0205713	OMIM	1	246	444	7225	159440
HP:0001761	HP:0001761	Pes cavus	0	MSTO1 CL E G H	55154	502423				ORPHA	1	8	35	29678	617619
HP:0001761	HP:0001761	Pes cavus	0	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	8	35	29678	617619
HP:0001761	HP:0001761	Pes cavus	0	MYH7 CL E G H	4625	437572				ORPHA	1	1002	2440	7577	160760
HP:0001761	HP:0001761	Pes cavus	0	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	1	1002	2440	7577	160760
HP:0001761	HP:0001761	Pes cavus	0	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	1	25	105	7737	162230
HP:0001761	HP:0001761	Pes cavus	0	NEFL CL E G H	4747	607684	Charcot-Marie-Tooth disease type 2E	607684	C1843225	OMIM	1	44	376	7739	162280
HP:0001761	HP:0001761	Pes cavus	0	NEFL CL E G H	4747	607734	Charcot-Marie-Tooth disease, demyelinating, type 1f	607734	C1843164	OMIM	1	44	376	7739	162280
HP:0001761	HP:0001761	Pes cavus	0	NEFL CL E G H	4747	617882	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G	617882	CN847583	OMIM	1	44	376	7739	162280
HP:0001761	HP:0001761	Pes cavus	0	NIPA1 CL E G H	123606	100988				ORPHA	1	17	483	17043	608145
HP:0001761	HP:0001761	Pes cavus	0	NIPA1 CL E G H	123606	600363	Spastic paraplegia 6	600363	C1838192	OMIM	1	17	483	17043	608145
HP:0001761	HP:0001761	Pes cavus	0	PCNA CL E G H	5111	615919	Ataxia-telangiectasia-like disorder 2	615919	C4014676	OMIM	1	1	40	8729	176740
HP:0001761	HP:0001761	Pes cavus	0	PDK3 CL E G H	5165	300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	300905	C3806702	OMIM	1	4	208	8811	300906
HP:0001761	HP:0001761	Pes cavus	0	PEX5 CL E G H	5830	616716	Rhizomelic chondrodysplasia punctata type 5	616716	C4225237	OMIM	1	14	280	9719	600414
HP:0001761	HP:0001761	Pes cavus	0	PEX7 CL E G H	5191	614879	Peroxisome biogenesis disorder 9B	614879	CN159238	OMIM	1	53	187	8860	601757
HP:0001761	HP:0001761	Pes cavus	0	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	53	187	8860	601757
HP:0001761	HP:0001761	Pes cavus	0	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	37	127	8940	602026
HP:0001761	HP:0001761	Pes cavus	0	PLEKHG5 CL E G H	57449	615376	Charcot-Marie-Tooth disease, recessive intermediate c	615376	C3809309	OMIM	1	12	563	29105	611101
HP:0001761	HP:0001761	Pes cavus	0	PLP1 CL E G H	5354	312920	Spastic paraplegia 2	312920	C1839264	OMIM	1	352	300	9086	300401
HP:0001761	HP:0001761	Pes cavus	0	PMP2 CL E G H	5375	618279	618279	618279		OMIM	1	3	41	9117	170715
HP:0001761	HP:0001761	Pes cavus	0	PMP22 CL E G H	5376	101081				ORPHA	1	165	337	9118	601097
HP:0001761	HP:0001761	Pes cavus	0	PMP22 CL E G H	5376	118300	Charcot-Marie-Tooth disease and deafness	118300	C1861669	OMIM	1	165	337	9118	601097
HP:0001761	HP:0001761	Pes cavus	0	PMP22 CL E G H	5376	118220	Charcot-Marie-Tooth disease, type IA	118220	C0270911	OMIM	1	165	337	9118	601097
HP:0001761	HP:0001761	Pes cavus	0	PMP22 CL E G H	5376	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	165	337	9118	601097
HP:0001761	HP:0001761	Pes cavus	0	PMP22 CL E G H	5376	180800	Roussy-Lévy syndrome	180800	C0205713	OMIM	1	165	337	9118	601097
HP:0001761	HP:0001761	Pes cavus	0	PODXL CL E G H	5420	391411				ORPHA	1	12	59	9171	602632
HP:0001761	HP:0001761	Pes cavus	0	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	300	1196	9179	174763
HP:0001761	HP:0001761	Pes cavus	0	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	300	1196	9179	174763
HP:0001761	HP:0001761	Pes cavus	0	PQBP1 CL E G H	10084	309500	Renpenning syndrome 1	309500	C0796135	OMIM	1	22	228	9330	300463
HP:0001761	HP:0001761	Pes cavus	0	PRPS1 CL E G H	5631	99014				ORPHA	1	32	259	9462	311850
HP:0001761	HP:0001761	Pes cavus	0	PRPS1 CL E G H	5631	311070	Charcot-Marie-Tooth disease, X-linked recessive, type 5	311070	C1839566	OMIM	1	32	259	9462	311850
HP:0001761	HP:0001761	Pes cavus	0	PRX CL E G H	57716	614895	Charcot-Marie-Tooth disease, demyelinating, type 4f	614895	C3540453	OMIM	1	62	699	13797	605725
HP:0001761	HP:0001761	Pes cavus	0	PRX CL E G H	57716	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	62	699	13797	605725
HP:0001761	HP:0001761	Pes cavus	0	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	1	6	83	26162	617220
HP:0001761	HP:0001761	Pes cavus	0	RAB11B CL E G H	9230	617807	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER	617807	C4540498	OMIM	1	2	14	9761	604198
HP:0001761	HP:0001761	Pes cavus	0	RAB7A CL E G H	7879	600882	Charcot-Marie-Tooth disease, axonal, type 2b	600882	C1833219	OMIM	1	7	125	9788	602298
HP:0001761	HP:0001761	Pes cavus	0	REEP1 CL E G H	65055	101011				ORPHA	1	61	227	25786	609139
HP:0001761	HP:0001761	Pes cavus	0	REEP1 CL E G H	65055	614751	Distal hereditary motor neuronopathy type 5B	614751	C3553656	OMIM	1	61	227	25786	609139
HP:0001761	HP:0001761	Pes cavus	0	REEP2 CL E G H	51308	401849				ORPHA	1	5	35	17975	609347
HP:0001761	HP:0001761	Pes cavus	0	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	432	1496	9967	164761
HP:0001761	HP:0001761	Pes cavus	0	RTN2 CL E G H	6253	604805	Spastic paraplegia 12	604805	C1858106	OMIM	1	5	113	10468	603183
HP:0001761	HP:0001761	Pes cavus	0	RUSC2 CL E G H	9853	617773	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61	617773	C4540424	OMIM	1	4	82	23625	611053
HP:0001761	HP:0001761	Pes cavus	0	SACS CL E G H	26278	270550	Spastic ataxia Charlevoix-Saguenay type	270550	C1849140	OMIM	1	264	1191	10519	604490
HP:0001761	HP:0001761	Pes cavus	0	SBF2 CL E G H	81846	604563	Charcot-Marie-Tooth disease, type 4B2	604563	C1858278	OMIM	1	29	717	2135	607697
HP:0001761	HP:0001761	Pes cavus	0	SETX CL E G H	23064	602433	Amyotrophic lateral sclerosis type 4	602433	C1865409	OMIM	1	216	651	445	608465
HP:0001761	HP:0001761	Pes cavus	0	SH3TC2 CL E G H	79628	601596	Charcot-Marie-Tooth disease, type 4C	601596	C1866636	OMIM	1	102	1092	29427	608206
HP:0001761	HP:0001761	Pes cavus	0	SIGMAR1 CL E G H	10280	605726	Distal spinal muscular atrophy, autosomal recessive 2	605726	C1854023	OMIM	1	19	125	8157	601978
HP:0001761	HP:0001761	Pes cavus	0	SLC25A46 CL E G H	91137	616505	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	616505	C4225302	OMIM	1	17	174	25198	610826
HP:0001761	HP:0001761	Pes cavus	0	SLC33A1 CL E G H	9197	612539	Spastic paraplegia 42, autosomal dominant	612539	C2675528	OMIM	1	7	60	95	603690
HP:0001761	HP:0001761	Pes cavus	0	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	20	169	14025	608761
HP:0001761	HP:0001761	Pes cavus	0	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	139	542	11055	300036
HP:0001761	HP:0001761	Pes cavus	0	SOX10 CL E G H	6663	609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	609136	C1836727	OMIM	1	151	192	11190	602229
HP:0001761	HP:0001761	Pes cavus	0	SPART CL E G H	23111	275900	Troyer syndrome	275900	C0393559	OMIM	1	7	183	18514	607111
HP:0001761	HP:0001761	Pes cavus	0	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	293	1065	11226	610844
HP:0001761	HP:0001761	Pes cavus	0	SPG7 CL E G H	6687	607259	Spastic paraplegia 7	607259	C1846564	OMIM	1	111	460	11237	602783
HP:0001761	HP:0001761	Pes cavus	0	SPTLC1 CL E G H	10558	162400	Neuropathy hereditary sensory and autonomic type 1	162400	C0020071	OMIM	1	12	208	11277	605712
HP:0001761	HP:0001761	Pes cavus	0	SYNJ1 CL E G H	8867	391411				ORPHA	1	27	452	11503	604297
HP:0001761	HP:0001761	Pes cavus	0	SYT2 CL E G H	127833	616040	Myasthenic syndrome, congenital, 7, presynaptic	616040	C4015038	OMIM	1	3	39	11510	600104
HP:0001761	HP:0001761	Pes cavus	0	TDP1 CL E G H	55775	94124				ORPHA	1	3	137	18884	607198
HP:0001761	HP:0001761	Pes cavus	0	TDP1 CL E G H	55775	607250	Spinocerebellar ataxia autosomal recessive with axonal neuropathy	607250	C1846574	OMIM	1	3	137	18884	607198
HP:0001761	HP:0001761	Pes cavus	0	TH CL E G H	7054	101150				ORPHA	1	77	345	11782	191290
HP:0001761	HP:0001761	Pes cavus	0	TPM3 CL E G H	7170	609284	Nemaline myopathy 1	609284	C1836448	OMIM	1	28	225	12012	191030
HP:0001761	HP:0001761	Pes cavus	0	TRIM2 CL E G H	23321	615490	Charcot-Marie-Tooth disease, axonal, type 2R	615490	C3809655	OMIM	1	8	169	15974	614141
HP:0001761	HP:0001761	Pes cavus	0	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	82	539	18083	605427
HP:0001761	HP:0001761	Pes cavus	0	TTPA CL E G H	7274	96				ORPHA	1	30	143	12404	600415
HP:0001761	HP:0001761	Pes cavus	0	UCHL1 CL E G H	7345	615491	Spastic paraplegia 79, autosomal recessive	615491	C3809665	OMIM	1	6	59	12513	191342
HP:0001761	HP:0001761	Pes cavus	0	USP9X CL E G H	8239	300968	Mental retardation, X-linked 99, syndromic, female-restricted	300968	C4225416	OMIM	1	28	269	12632	300072
HP:0001761	HP:0001761	Pes cavus	0	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	6	64	12642	185880
HP:0001761	HP:0001761	Pes cavus	0	VCP CL E G H	7415	435387				ORPHA	1	65	260	12666	601023
HP:0001761	HP:0001761	Pes cavus	0	VCP CL E G H	7415	616687	Charcot-Marie-Tooth disease, axonal, type 2y	616687	C4225244	OMIM	1	65	260	12666	601023
HP:0001761	HP:0001761	Pes cavus	0	VPS13A CL E G H	23230	200150	Choreoacanthocytosis	200150	C0393576	OMIM	1	116	506	1908	605978
HP:0001761	HP:0001761	Pes cavus	0	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	19	103	23595	608877
HP:0001761	HP:0001761	Pes cavus	0	WASHC5 CL E G H	9897	603563	Spastic paraplegia 8	603563	C1863704	OMIM	1	20	268	28984	610657
HP:0001761	HP:0001761	Pes cavus	0	WDR73 CL E G H	84942	251300	Galloway-Mowat syndrome 1	251300	CN031715	OMIM	1	12	95	25928	616144
HP:0001761	HP:0001761	Pes cavus	0	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	25	109	13503	606025
HP:0001761	HP:0001761	Pes cavus	0	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	45	700	20761	612012
HP:0001761	HP:0001761	Pes cavus	1	AARS CL E G H	16	613287	Charcot-Marie-Tooth disease, type 2N	613287	C2750090	OMIM	1	21		20	601065
HP:0001761	HP:0001761	Pes cavus	1	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	21	161	15868	613599
HP:0001761	HP:0001761	Pes cavus	1	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	217	272	129	102610
HP:0001761	HP:0001761	Pes cavus	1	AIFM1 CL E G H	9131	101078				ORPHA	1	33	343	8768	300169
HP:0001761	HP:0001761	Pes cavus	1	ALDH18A1 CL E G H	5832	447753				ORPHA	1	33	252	9722	138250
HP:0001761	HP:0001761	Pes cavus	1	ALDH18A1 CL E G H	5832	601162	Spastic paraplegia 9	601162	C1832669	OMIM	1	33	252	9722	138250
HP:0001761	HP:0001761	Pes cavus	1	ALS2 CL E G H	57679	607225	Infantile-onset ascending hereditary spastic paralysis	607225	C2931441	OMIM	1	73	347	443	606352
HP:0001761	HP:0001761	Pes cavus	1	ANO10 CL E G H	55129	284289				ORPHA	1	19	153	25519	613726
HP:0001761	HP:0001761	Pes cavus	1	ANO10 CL E G H	55129	613728	Spinocerebellar ataxia, autosomal recessive 10	613728	C3150998	OMIM	1	19	153	25519	613726
HP:0001761	HP:0001761	Pes cavus	1	ANOS1 CL E G H	3730	308700	Kallmann syndrome 1	308700	C1563719	OMIM	1	191	346	6211	300836
HP:0001761	HP:0001761	Pes cavus	1	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	46	179	15984	606350
HP:0001761	HP:0001761	Pes cavus	1	ATL1 CL E G H	51062	613708	Hereditary sensory neuropathy type 1D	613708	C3150972	OMIM	1	85	220	11231	606439
HP:0001761	HP:0001761	Pes cavus	1	ATL1 CL E G H	51062	182600	Spastic paraplegia 3	182600	C2931355	OMIM	1	85	220	11231	606439
HP:0001761	HP:0001761	Pes cavus	1	ATP1A3 CL E G H	478	601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss	601338	C1832466	OMIM	1	122	407	801	182350
HP:0001761	HP:0001761	Pes cavus	1	ATP7A CL E G H	538	300489	Distal spinal muscular atrophy, X-linked 3	300489	C1845359	OMIM	1	357	607	869	300011
HP:0001761	HP:0001761	Pes cavus	1	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	15	181	20207	610308
HP:0001761	HP:0001761	Pes cavus	1	B4GALNT1 CL E G H	2583	609195	Spastic paraplegia 26	609195	C1836632	OMIM	1	13	97	4117	601873
HP:0001761	HP:0001761	Pes cavus	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	68	449	939	603883
HP:0001761	HP:0001761	Pes cavus	1	BSCL2 CL E G H	26580	270685	Spastic paraplegia 17	270685	CN074197	OMIM	1	50	263	15832	606158
HP:0001761	HP:0001761	Pes cavus	1	C19orf12 CL E G H	83636	320370				ORPHA	1	38	206	25443	614297
HP:0001761	HP:0001761	Pes cavus	1	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	38	206	25443	614297
HP:0001761	HP:0001761	Pes cavus	1	C19orf12 CL E G H	83636	615043	Spastic paraplegia 43, autosomal recessive	615043	C2680446	OMIM	1	38	206	25443	614297
HP:0001761	HP:0001761	Pes cavus	1	CAPN1 CL E G H	823	488594				ORPHA	1	18	42	1476	114220
HP:0001761	HP:0001761	Pes cavus	1	CAV3 CL E G H	859	614321	Distal myopathy, Tateyama type	614321	C3280443	OMIM	1	50	285	1529	601253
HP:0001761	HP:0001761	Pes cavus	1	CHCHD10 CL E G H	400916	615048	Spinal muscular atrophy, jokela type	615048	C3554398	OMIM	1	27	163	15559	615903
HP:0001761	HP:0001761	Pes cavus	1	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	3	106	8740	164010
HP:0001761	HP:0001761	Pes cavus	1	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	43	306	16812	606980
HP:0001761	HP:0001761	Pes cavus	1	COX6A1 CL E G H	1337	616039	Charcot-Marie-Tooth disease, recessive intermediate d	616039	C4015029	OMIM	1	1	27	2277	602072
HP:0001761	HP:0001761	Pes cavus	1	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	1	247	2498	604927
HP:0001761	HP:0001761	Pes cavus	1	CUL4B CL E G H	8450	85293				ORPHA	1	40	247	2555	300304
HP:0001761	HP:0001761	Pes cavus	1	CUL4B CL E G H	8450	300354	Syndromic X-linked mental retardation, Cabezas type	300354	C1845861	OMIM	1	40	247	2555	300304
HP:0001761	HP:0001761	Pes cavus	1	CYP7B1 CL E G H	9420	100986				ORPHA	1	63	199	2652	603711
HP:0001761	HP:0001761	Pes cavus	1	DCAF8 CL E G H	50717	610100	Giant axonal neuropathy 2, autosomal dominant	610100	C1864695	OMIM	1	1	25	24891	615820
HP:0001761	HP:0001761	Pes cavus	1	DDHD1 CL E G H	80821	101008				ORPHA	1	13	128	19714	614603
HP:0001761	HP:0001761	Pes cavus	1	DDHD1 CL E G H	80821	609340	Spastic paraplegia 28, autosomal recessive	609340	C1836295	OMIM	1	13	128	19714	614603
HP:0001761	HP:0001761	Pes cavus	1	DNAJC6 CL E G H	9829	391411				ORPHA	1	14	83	15469	608375
HP:0001761	HP:0001761	Pes cavus	1	DNM2 CL E G H	1785	606482	Charcot-Marie-Tooth disease, dominant intermediate B	606482	C1847902	OMIM	1	52	506	2974	602378
HP:0001761	HP:0001761	Pes cavus	1	DYNC1H1 CL E G H	1778	614228	Charcot-Marie-Tooth disease, axonal, type 2O	614228	C3280220	OMIM	1	77	1453	2961	600112
HP:0001761	HP:0001761	Pes cavus	1	EGR2 CL E G H	1959	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	24	197	3239	129010
HP:0001761	HP:0001761	Pes cavus	1	ERLIN2 CL E G H	11160	611225	Spastic paraplegia 18	611225	C2749936	OMIM	1	15	103	1356	611605
HP:0001761	HP:0001761	Pes cavus	1	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	42	235	3527	601573
HP:0001761	HP:0001761	Pes cavus	1	FBLN5 CL E G H	10516	608895	Age-related macular degeneration 3	608895	C1837187	OMIM	1	23	142	3602	604580
HP:0001761	HP:0001761	Pes cavus	1	FBN1 CL E G H	2200	154700	Marfan syndrome	154700	C0024796	OMIM	1	2721	4284	3603	134797
HP:0001761	HP:0001761	Pes cavus	1	FGD4 CL E G H	121512	609311	Charcot-Marie-Tooth disease, type 4H	609311	C1836336	OMIM	1	30	415	19125	611104
HP:0001761	HP:0001761	Pes cavus	1	FGF14 CL E G H	2259	98764				ORPHA	1	10	163	3671	601515
HP:0001761	HP:0001761	Pes cavus	1	FLRT1 CL E G H	23769	320406				ORPHA	1	1	69	3760	604806
HP:0001761	HP:0001761	Pes cavus	1	FXN CL E G H	2395	95				ORPHA	1	66	101	3951	606829
HP:0001761	HP:0001761	Pes cavus	1	FXN CL E G H	2395	229300	Friedreich ataxia 1	229300	C1856689	OMIM	1	66	101	3951	606829
HP:0001761	HP:0001761	Pes cavus	1	GAN CL E G H	8139	643				ORPHA	1	80	435	4137	605379
HP:0001761	HP:0001761	Pes cavus	1	GAN CL E G H	8139	256850	Giant axonal neuropathy	256850	C1850386	OMIM	1	80	435	4137	605379
HP:0001761	HP:0001761	Pes cavus	1	GARS CL E G H	2617	601472	Charcot-Marie-Tooth disease type 2D	601472	C1832274	OMIM	1	41		4162	600287
HP:0001761	HP:0001761	Pes cavus	1	GBA CL E G H	2629	231005	Gaucher disease type 3C	231005	C1856476	OMIM	1	494	206	4177	606463
HP:0001761	HP:0001761	Pes cavus	1	GBA2 CL E G H	57704	614409	Spastic paraplegia 46, autosomal recessive	614409	C2828721	OMIM	1	23	194	18986	609471
HP:0001761	HP:0001761	Pes cavus	1	GCH1 CL E G H	2643	98808				ORPHA	1	252	208	4193	600225
HP:0001761	HP:0001761	Pes cavus	1	GCH1 CL E G H	2643	128230	Dystonia 5, Dopa-responsive type	128230	C1851920	OMIM	1	252	208	4193	600225
HP:0001761	HP:0001761	Pes cavus	1	GDAP1 CL E G H	54332	607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive	607706	C1843183	OMIM	1	103	351	15968	606598
HP:0001761	HP:0001761	Pes cavus	1	GDAP1 CL E G H	54332	608340	Charcot-Marie-Tooth disease, recessive intermediate A	608340	C1842197	OMIM	1	103	351	15968	606598
HP:0001761	HP:0001761	Pes cavus	1	GJB1 CL E G H	2705	101075				ORPHA	1	499	668	4283	304040
HP:0001761	HP:0001761	Pes cavus	1	GJB1 CL E G H	2705	1175	CDK4 linked melanoma			ORPHA	1	499	668	4283	304040
HP:0001761	HP:0001761	Pes cavus	1	GJB1 CL E G H	2705	302800	X-linked hereditary motor and sensory neuropathy	302800	C0393808	OMIM	1	499	668	4283	304040
HP:0001761	HP:0001761	Pes cavus	1	GJB2 CL E G H	2706	602540	Hystrix-like ichthyosis with deafness	602540	C1865234	OMIM	1	410	385	4284	121011
HP:0001761	HP:0001761	Pes cavus	1	GJB2 CL E G H	2706	148210	Keratitis-ichthyosis-deafness syndrome, autosomal dominant	148210	C1835678	OMIM	1	410	385	4284	121011
HP:0001761	HP:0001761	Pes cavus	1	GJC2 CL E G H	57165	320401				ORPHA	1	57	133	17494	608803
HP:0001761	HP:0001761	Pes cavus	1	GJC2 CL E G H	57165	613206	Spastic paraplegia 44, autosomal recessive	613206	C2750784	OMIM	1	57	133	17494	608803
HP:0001761	HP:0001761	Pes cavus	1	GNB4 CL E G H	59345	615185	Charcot-Marie-Tooth disease, dominant intermediate F	615185	C3554654	OMIM	1	5	106	20731	610863
HP:0001761	HP:0001761	Pes cavus	1	HARS CL E G H	3035	488333				ORPHA	1	13		4816	142810
HP:0001761	HP:0001761	Pes cavus	1	HARS CL E G H	3035	616625	Charcot-Marie-Tooth disease, axonal, type 2w	616625	C4225265	OMIM	1	13		4816	142810
HP:0001761	HP:0001761	Pes cavus	1	HDAC8 CL E G H	55869	3459				ORPHA	1	56	227	13315	300269
HP:0001761	HP:0001761	Pes cavus	1	HSD17B4 CL E G H	3295	233400	Perrault syndrome 1	233400		OMIM	1	101	305	5213	601860
HP:0001761	HP:0001761	Pes cavus	1	HSPB1 CL E G H	3315	606595	Charcot-Marie-Tooth disease type 2F	606595	C1847823	OMIM	1	48	226	5246	602195
HP:0001761	HP:0001761	Pes cavus	1	HSPB8 CL E G H	26353	608673	Charcot-Marie-Tooth disease, type 2L	608673	C1837552	OMIM	1	10	123	30171	608014
HP:0001761	HP:0001761	Pes cavus	1	IBA57 CL E G H	200205	468661				ORPHA	1	23	113	27302	615316
HP:0001761	HP:0001761	Pes cavus	1	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	640	424	5389	300823
HP:0001761	HP:0001761	Pes cavus	1	IDUA CL E G H	3425	607016	Mucopolysaccharidosis, MPS-I-S	607016	C0026708	OMIM	1	291	622	5391	252800
HP:0001761	HP:0001761	Pes cavus	1	IFIH1 CL E G H	64135	182250	Singleton-Merten syndrome 1	182250	C4225427	OMIM	1	28	286	18873	606951
HP:0001761	HP:0001761	Pes cavus	1	IFRD1 CL E G H	3475	98771				ORPHA	1	3	41	5456	603502
HP:0001761	HP:0001761	Pes cavus	1	INF2 CL E G H	64423	614455	Charcot-Marie-Tooth disease, dominant intermediate E	614455	C3280845	OMIM	1	73	625	23791	610982
HP:0001761	HP:0001761	Pes cavus	1	IQSEC2 CL E G H	23096	217377				ORPHA	1	57	539	29059	300522
HP:0001761	HP:0001761	Pes cavus	1	KARS CL E G H	3735	613641	Charcot-Marie-Tooth disease, recessive intermediate B	613641	C3150897	OMIM	1	25		6215	601421
HP:0001761	HP:0001761	Pes cavus	1	KIF1B CL E G H	23095	118210	Charcot-Marie-Tooth disease, type 2A1	118210	C1861678	OMIM	1	13	532	16636	605995
HP:0001761	HP:0001761	Pes cavus	1	KIF5A CL E G H	3798	604187	Spastic paraplegia 10	604187	C1858712	OMIM	1	69	249	6323	602821
HP:0001761	HP:0001761	Pes cavus	1	KLC2 CL E G H	64837	320406				ORPHA	1	3	25	20716	611729
HP:0001761	HP:0001761	Pes cavus	1	KLC2 CL E G H	64837	609541	Spastic paraplegia, optic atrophy, and neuropathy	609541	C1836010	OMIM	1	3	25	20716	611729
HP:0001761	HP:0001761	Pes cavus	1	L1CAM CL E G H	3897	303350	Spastic paraplegia 1	303350	C0795953	OMIM	1	293	519	6470	308840
HP:0001761	HP:0001761	Pes cavus	1	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	103	535	6501	309060
HP:0001761	HP:0001761	Pes cavus	1	LAS1L CL E G H	81887	3459				ORPHA	1	4	172	25726	300964
HP:0001761	HP:0001761	Pes cavus	1	LAS1L CL E G H	81887	309585	Wilson-Turner X-linked mental retardation syndrome	309585	C1839736	OMIM	1	4	172	25726	300964
HP:0001761	HP:0001761	Pes cavus	1	LITAF CL E G H	9516	601098	Charcot-Marie-Tooth disease, type 1C	601098	C0270913	OMIM	1	19	202	16841	603795
HP:0001761	HP:0001761	Pes cavus	1	LMNA CL E G H	4000	605588	Charcot-Marie-Tooth disease type 2B1	605588	C1854154	OMIM	1	574	1152	6636	150330
HP:0001761	HP:0001761	Pes cavus	1	LRSAM1 CL E G H	90678	614436	Charcot-Marie-Tooth disease type 2P	614436	C3280797	OMIM	1	16	442	25135	610933
HP:0001761	HP:0001761	Pes cavus	1	MAFB CL E G H	9935	166300	Multicentric osteolysis nephropathy	166300	C2674705	OMIM	1	25	105	6408	608968
HP:0001761	HP:0001761	Pes cavus	1	MECP2 CL E G H	4204	300055	Mental retardation, X-linked, syndromic 13	300055	C1968550	OMIM	1	1050	1442	6990	300005
HP:0001761	HP:0001761	Pes cavus	1	MFN2 CL E G H	9927	99947				ORPHA	1	231	680	16877	608507
HP:0001761	HP:0001761	Pes cavus	1	MFN2 CL E G H	9927	617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	617087	C4310725	OMIM	1	231	680	16877	608507
HP:0001761	HP:0001761	Pes cavus	1	MFN2 CL E G H	9927	609260	Charcot-Marie-Tooth disease, type 2A2A	609260	C1836485	OMIM	1	231	680	16877	608507
HP:0001761	HP:0001761	Pes cavus	1	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	231	680	16877	608507
HP:0001761	HP:0001761	Pes cavus	1	MME CL E G H	4311	497764				ORPHA	1	28	91	7154	120520
HP:0001761	HP:0001761	Pes cavus	1	MME CL E G H	4311	617018	Spinocerebellar ataxia 43	617018	C4310763	OMIM	1	28	91	7154	120520
HP:0001761	HP:0001761	Pes cavus	1	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	27	148	7166	120360
HP:0001761	HP:0001761	Pes cavus	1	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	1	18	267	23573	616661
HP:0001761	HP:0001761	Pes cavus	1	MPZ CL E G H	4359	607677	Charcot-Marie-Tooth disease type 2I	607677	C3888087	OMIM	1	246	444	7225	159440
HP:0001761	HP:0001761	Pes cavus	1	MPZ CL E G H	4359	607736	Charcot-Marie-Tooth disease type 2J	607736	C1843153	OMIM	1	246	444	7225	159440
HP:0001761	HP:0001761	Pes cavus	1	MPZ CL E G H	4359	118200	Charcot-Marie-Tooth disease, demyelinating, type 1b	118200	C0270912	OMIM	1	246	444	7225	159440
HP:0001761	HP:0001761	Pes cavus	1	MPZ CL E G H	4359	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	246	444	7225	159440
HP:0001761	HP:0001761	Pes cavus	1	MPZ CL E G H	4359	180800	Roussy-Lévy syndrome	180800	C0205713	OMIM	1	246	444	7225	159440
HP:0001761	HP:0001761	Pes cavus	1	MSTO1 CL E G H	55154	502423				ORPHA	1	8	35	29678	617619
HP:0001761	HP:0001761	Pes cavus	1	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	8	35	29678	617619
HP:0001761	HP:0001761	Pes cavus	1	MYH7 CL E G H	4625	437572				ORPHA	1	1002	2440	7577	160760
HP:0001761	HP:0001761	Pes cavus	1	MYH7 CL E G H	4625	160500	Myopathy, distal, 1	160500	CN074249	OMIM	1	1002	2440	7577	160760
HP:0001761	HP:0001761	Pes cavus	1	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	1	25	105	7737	162230
HP:0001761	HP:0001761	Pes cavus	1	NEFL CL E G H	4747	607684	Charcot-Marie-Tooth disease type 2E	607684	C1843225	OMIM	1	44	376	7739	162280
HP:0001761	HP:0001761	Pes cavus	1	NEFL CL E G H	4747	607734	Charcot-Marie-Tooth disease, demyelinating, type 1f	607734	C1843164	OMIM	1	44	376	7739	162280
HP:0001761	HP:0001761	Pes cavus	1	NEFL CL E G H	4747	617882	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G	617882	CN847583	OMIM	1	44	376	7739	162280
HP:0001761	HP:0001761	Pes cavus	1	NIPA1 CL E G H	123606	100988				ORPHA	1	17	483	17043	608145
HP:0001761	HP:0001761	Pes cavus	1	NIPA1 CL E G H	123606	600363	Spastic paraplegia 6	600363	C1838192	OMIM	1	17	483	17043	608145
HP:0001761	HP:0001761	Pes cavus	1	PCNA CL E G H	5111	615919	Ataxia-telangiectasia-like disorder 2	615919	C4014676	OMIM	1	1	40	8729	176740
HP:0001761	HP:0001761	Pes cavus	1	PDK3 CL E G H	5165	300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	300905	C3806702	OMIM	1	4	208	8811	300906
HP:0001761	HP:0001761	Pes cavus	1	PEX5 CL E G H	5830	616716	Rhizomelic chondrodysplasia punctata type 5	616716	C4225237	OMIM	1	14	280	9719	600414
HP:0001761	HP:0001761	Pes cavus	1	PEX7 CL E G H	5191	614879	Peroxisome biogenesis disorder 9B	614879	CN159238	OMIM	1	53	187	8860	601757
HP:0001761	HP:0001761	Pes cavus	1	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	53	187	8860	601757
HP:0001761	HP:0001761	Pes cavus	1	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	37	127	8940	602026
HP:0001761	HP:0001761	Pes cavus	1	PLEKHG5 CL E G H	57449	615376	Charcot-Marie-Tooth disease, recessive intermediate c	615376	C3809309	OMIM	1	12	563	29105	611101
HP:0001761	HP:0001761	Pes cavus	1	PLP1 CL E G H	5354	312920	Spastic paraplegia 2	312920	C1839264	OMIM	1	352	300	9086	300401
HP:0001761	HP:0001761	Pes cavus	1	PMP2 CL E G H	5375	618279	618279	618279		OMIM	1	3	41	9117	170715
HP:0001761	HP:0001761	Pes cavus	1	PMP22 CL E G H	5376	101081				ORPHA	1	165	337	9118	601097
HP:0001761	HP:0001761	Pes cavus	1	PMP22 CL E G H	5376	118300	Charcot-Marie-Tooth disease and deafness	118300	C1861669	OMIM	1	165	337	9118	601097
HP:0001761	HP:0001761	Pes cavus	1	PMP22 CL E G H	5376	118220	Charcot-Marie-Tooth disease, type IA	118220	C0270911	OMIM	1	165	337	9118	601097
HP:0001761	HP:0001761	Pes cavus	1	PMP22 CL E G H	5376	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	165	337	9118	601097
HP:0001761	HP:0001761	Pes cavus	1	PMP22 CL E G H	5376	180800	Roussy-Lévy syndrome	180800	C0205713	OMIM	1	165	337	9118	601097
HP:0001761	HP:0001761	Pes cavus	1	PODXL CL E G H	5420	391411				ORPHA	1	12	59	9171	602632
HP:0001761	HP:0001761	Pes cavus	1	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	300	1196	9179	174763
HP:0001761	HP:0001761	Pes cavus	1	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	300	1196	9179	174763
HP:0001761	HP:0001761	Pes cavus	1	PQBP1 CL E G H	10084	309500	Renpenning syndrome 1	309500	C0796135	OMIM	1	22	228	9330	300463
HP:0001761	HP:0001761	Pes cavus	1	PRPS1 CL E G H	5631	99014				ORPHA	1	32	259	9462	311850
HP:0001761	HP:0001761	Pes cavus	1	PRPS1 CL E G H	5631	311070	Charcot-Marie-Tooth disease, X-linked recessive, type 5	311070	C1839566	OMIM	1	32	259	9462	311850
HP:0001761	HP:0001761	Pes cavus	1	PRX CL E G H	57716	614895	Charcot-Marie-Tooth disease, demyelinating, type 4f	614895	C3540453	OMIM	1	62	699	13797	605725
HP:0001761	HP:0001761	Pes cavus	1	PRX CL E G H	57716	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	62	699	13797	605725
HP:0001761	HP:0001761	Pes cavus	1	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	1	6	83	26162	617220
HP:0001761	HP:0001761	Pes cavus	1	RAB11B CL E G H	9230	617807	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER	617807	C4540498	OMIM	1	2	14	9761	604198
HP:0001761	HP:0001761	Pes cavus	1	RAB7A CL E G H	7879	600882	Charcot-Marie-Tooth disease, axonal, type 2b	600882	C1833219	OMIM	1	7	125	9788	602298
HP:0001761	HP:0001761	Pes cavus	1	REEP1 CL E G H	65055	101011				ORPHA	1	61	227	25786	609139
HP:0001761	HP:0001761	Pes cavus	1	REEP1 CL E G H	65055	614751	Distal hereditary motor neuronopathy type 5B	614751	C3553656	OMIM	1	61	227	25786	609139
HP:0001761	HP:0001761	Pes cavus	1	REEP2 CL E G H	51308	401849				ORPHA	1	5	35	17975	609347
HP:0001761	HP:0001761	Pes cavus	1	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	432	1496	9967	164761
HP:0001761	HP:0001761	Pes cavus	1	RTN2 CL E G H	6253	604805	Spastic paraplegia 12	604805	C1858106	OMIM	1	5	113	10468	603183
HP:0001761	HP:0001761	Pes cavus	1	RUSC2 CL E G H	9853	617773	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61	617773	C4540424	OMIM	1	4	82	23625	611053
HP:0001761	HP:0001761	Pes cavus	1	SACS CL E G H	26278	270550	Spastic ataxia Charlevoix-Saguenay type	270550	C1849140	OMIM	1	264	1191	10519	604490
HP:0001761	HP:0001761	Pes cavus	1	SBF2 CL E G H	81846	604563	Charcot-Marie-Tooth disease, type 4B2	604563	C1858278	OMIM	1	29	717	2135	607697
HP:0001761	HP:0001761	Pes cavus	1	SETX CL E G H	23064	602433	Amyotrophic lateral sclerosis type 4	602433	C1865409	OMIM	1	216	651	445	608465
HP:0001761	HP:0001761	Pes cavus	1	SH3TC2 CL E G H	79628	601596	Charcot-Marie-Tooth disease, type 4C	601596	C1866636	OMIM	1	102	1092	29427	608206
HP:0001761	HP:0001761	Pes cavus	1	SIGMAR1 CL E G H	10280	605726	Distal spinal muscular atrophy, autosomal recessive 2	605726	C1854023	OMIM	1	19	125	8157	601978
HP:0001761	HP:0001761	Pes cavus	1	SLC25A46 CL E G H	91137	616505	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	616505	C4225302	OMIM	1	17	174	25198	610826
HP:0001761	HP:0001761	Pes cavus	1	SLC33A1 CL E G H	9197	612539	Spastic paraplegia 42, autosomal dominant	612539	C2675528	OMIM	1	7	60	95	603690
HP:0001761	HP:0001761	Pes cavus	1	SLC5A7 CL E G H	60482	158580	Neuronopathy, distal hereditary motor, type viia	158580	C1834703	OMIM	1	20	169	14025	608761
HP:0001761	HP:0001761	Pes cavus	1	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	139	542	11055	300036
HP:0001761	HP:0001761	Pes cavus	1	SOX10 CL E G H	6663	609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	609136	C1836727	OMIM	1	151	192	11190	602229
HP:0001761	HP:0001761	Pes cavus	1	SPART CL E G H	23111	275900	Troyer syndrome	275900	C0393559	OMIM	1	7	183	18514	607111
HP:0001761	HP:0001761	Pes cavus	1	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	293	1065	11226	610844
HP:0001761	HP:0001761	Pes cavus	1	SPG7 CL E G H	6687	607259	Spastic paraplegia 7	607259	C1846564	OMIM	1	111	460	11237	602783
HP:0001761	HP:0001761	Pes cavus	1	SPTLC1 CL E G H	10558	162400	Neuropathy hereditary sensory and autonomic type 1	162400	C0020071	OMIM	1	12	208	11277	605712
HP:0001761	HP:0001761	Pes cavus	1	SYNJ1 CL E G H	8867	391411				ORPHA	1	27	452	11503	604297
HP:0001761	HP:0001761	Pes cavus	1	SYT2 CL E G H	127833	616040	Myasthenic syndrome, congenital, 7, presynaptic	616040	C4015038	OMIM	1	3	39	11510	600104
HP:0001761	HP:0001761	Pes cavus	1	TDP1 CL E G H	55775	94124				ORPHA	1	3	137	18884	607198
HP:0001761	HP:0001761	Pes cavus	1	TDP1 CL E G H	55775	607250	Spinocerebellar ataxia autosomal recessive with axonal neuropathy	607250	C1846574	OMIM	1	3	137	18884	607198
HP:0001761	HP:0001761	Pes cavus	1	TH CL E G H	7054	101150				ORPHA	1	77	345	11782	191290
HP:0001761	HP:0001761	Pes cavus	1	TPM3 CL E G H	7170	609284	Nemaline myopathy 1	609284	C1836448	OMIM	1	28	225	12012	191030
HP:0001761	HP:0001761	Pes cavus	1	TRIM2 CL E G H	23321	615490	Charcot-Marie-Tooth disease, axonal, type 2R	615490	C3809655	OMIM	1	8	169	15974	614141
HP:0001761	HP:0001761	Pes cavus	1	TRPV4 CL E G H	59341	606071	Charcot-Marie-Tooth disease type 2C	606071	C2079540	OMIM	1	82	539	18083	605427
HP:0001761	HP:0001761	Pes cavus	1	TTPA CL E G H	7274	96				ORPHA	1	30	143	12404	600415
HP:0001761	HP:0001761	Pes cavus	1	UCHL1 CL E G H	7345	615491	Spastic paraplegia 79, autosomal recessive	615491	C3809665	OMIM	1	6	59	12513	191342
HP:0001761	HP:0001761	Pes cavus	1	USP9X CL E G H	8239	300968	Mental retardation, X-linked 99, syndromic, female-restricted	300968	C4225416	OMIM	1	28	269	12632	300072
HP:0001761	HP:0001761	Pes cavus	1	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	6	64	12642	185880
HP:0001761	HP:0001761	Pes cavus	1	VCP CL E G H	7415	435387				ORPHA	1	65	260	12666	601023
HP:0001761	HP:0001761	Pes cavus	1	VCP CL E G H	7415	616687	Charcot-Marie-Tooth disease, axonal, type 2y	616687	C4225244	OMIM	1	65	260	12666	601023
HP:0001761	HP:0001761	Pes cavus	1	VPS13A CL E G H	23230	200150	Choreoacanthocytosis	200150	C0393576	OMIM	1	116	506	1908	605978
HP:0001761	HP:0001761	Pes cavus	1	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	19	103	23595	608877
HP:0001761	HP:0001761	Pes cavus	1	WASHC5 CL E G H	9897	603563	Spastic paraplegia 8	603563	C1863704	OMIM	1	20	268	28984	610657
HP:0001761	HP:0001761	Pes cavus	1	WDR73 CL E G H	84942	251300	Galloway-Mowat syndrome 1	251300	CN031715	OMIM	1	12	95	25928	616144
HP:0001761	HP:0001761	Pes cavus	1	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	25	109	13503	606025
HP:0001761	HP:0001761	Pes cavus	1	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	45	700	20761	612012
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001761	HP:0001761	Pes cavus	0	AAAS CL E G H	8086	869				ORPHA	0	79	99	13666	605378
HP:0001761	HP:0001761	Pes cavus	0	ACTA1 CL E G H	58	171439				ORPHA	0	217	272	129	102610
HP:0001761	HP:0001761	Pes cavus	0	AGRN CL E G H	375790	98914				ORPHA	0	18	942	329	103320
HP:0001761	HP:0001761	Pes cavus	0	ANOS1 CL E G H	3730	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	191	346	6211	300836
HP:0001761	HP:0001761	Pes cavus	0	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	0	44	365	30213	610513
HP:0001761	HP:0001761	Pes cavus	0	ATP1A3 CL E G H	478	1171				ORPHA	0	122	407	801	182350
HP:0001761	HP:0001761	Pes cavus	0	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	4	93	854	606939
HP:0001761	HP:0001761	Pes cavus	0	B4GALNT1 CL E G H	2583	101006				ORPHA	0	13	97	4117	601873
HP:0001761	HP:0001761	Pes cavus	0	BIN1 CL E G H	274	169186				ORPHA	0	17	315	1052	601248
HP:0001761	HP:0001761	Pes cavus	0	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	0	17	315	1052	601248
HP:0001761	HP:0001761	Pes cavus	0	BSCL2 CL E G H	26580	139536				ORPHA	0	50	263	15832	606158
HP:0001761	HP:0001761	Pes cavus	0	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	0	50	263	15832	606158
HP:0001761	HP:0001761	Pes cavus	0	CAPN1 CL E G H	823	616907	Spastic paraplegia 76, autosomal recessive	616907	C4310800	OMIM	0	18	42	1476	114220
HP:0001761	HP:0001761	Pes cavus	0	CCDC141 CL E G H	285025	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	1	66	26821	616031
HP:0001761	HP:0001761	Pes cavus	0	CHAT CL E G H	1103	98914				ORPHA	0	77	374	1912	118490
HP:0001761	HP:0001761	Pes cavus	0	CHD7 CL E G H	55636	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	884	1266	20626	608892
HP:0001761	HP:0001761	Pes cavus	0	COASY CL E G H	80347	615643	Neurodegeneration with brain iron accumulation 6	615643	C3810230	OMIM	0	3	76	29932	609855
HP:0001761	HP:0001761	Pes cavus	0	COL13A1 CL E G H	1305	98914				ORPHA	0	3	68	2190	120350
HP:0001761	HP:0001761	Pes cavus	0	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	0	3	68	2190	120350
HP:0001761	HP:0001761	Pes cavus	0	CYP7B1 CL E G H	9420	270800	Spastic paraplegia 5A	270800	C1849115	OMIM	0	63	199	2652	603711
HP:0001761	HP:0001761	Pes cavus	0	DCC CL E G H	1630	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	41	123	2701	120470
HP:0001761	HP:0001761	Pes cavus	0	DHH CL E G H	50846	168563				ORPHA	0	18	61	2865	605423
HP:0001761	HP:0001761	Pes cavus	0	DNAJB2 CL E G H	3300	614881	Spinal muscular atrophy, distal, autosomal recessive, 5	614881	C3553989	OMIM	0	5	150	5228	604139
HP:0001761	HP:0001761	Pes cavus	0	DUSP6 CL E G H	1848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	5	24	3072	602748
HP:0001761	HP:0001761	Pes cavus	0	EED CL E G H	8726	3447				ORPHA	0	9	49	3188	605984
HP:0001761	HP:0001761	Pes cavus	0	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	59	263	3437	133530
HP:0001761	HP:0001761	Pes cavus	0	EZH2 CL E G H	2146	3447				ORPHA	0	42	235	3527	601573
HP:0001761	HP:0001761	Pes cavus	0	FBXO38 CL E G H	81545	615575	Distal hereditary motor neuronopathy 2D	615575	C3711384	OMIM	0	5	195	28844	608533
HP:0001761	HP:0001761	Pes cavus	0	FEZF1 CL E G H	389549	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	3	41	22788	613301
HP:0001761	HP:0001761	Pes cavus	0	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	0	10	163	3671	601515
HP:0001761	HP:0001761	Pes cavus	0	FGF17 CL E G H	8822	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	5	82	3673	603725
HP:0001761	HP:0001761	Pes cavus	0	FGF8 CL E G H	2253	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	41	54	3686	600483
HP:0001761	HP:0001761	Pes cavus	0	FGFR1 CL E G H	2260	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	265	388	3688	136350
HP:0001761	HP:0001761	Pes cavus	0	FLRT3 CL E G H	23767	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	7	41	3762	604808
HP:0001761	HP:0001761	Pes cavus	0	GARS CL E G H	2617	139536				ORPHA	0	41		4162	600287
HP:0001761	HP:0001761	Pes cavus	0	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	0	41		4162	600287
HP:0001761	HP:0001761	Pes cavus	0	GBA2 CL E G H	57704	352641				ORPHA	0	23	194	18986	609471
HP:0001761	HP:0001761	Pes cavus	0	GBA2 CL E G H	57704	320391				ORPHA	0	23	194	18986	609471
HP:0001761	HP:0001761	Pes cavus	0	GMPPA CL E G H	29926	869				ORPHA	0	12	74	22923	615495
HP:0001761	HP:0001761	Pes cavus	0	GTF2E2 CL E G H	2961	616943	Trichothiodystrophy 6, nonphotosensitive	616943	C4310785	OMIM	0	2	69	4651	189964
HP:0001761	HP:0001761	Pes cavus	0	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	0	71	302	4801	600890
HP:0001761	HP:0001761	Pes cavus	0	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	0	67	148	4803	143450
HP:0001761	HP:0001761	Pes cavus	0	HESX1 CL E G H	8820	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	27	46	4877	601802
HP:0001761	HP:0001761	Pes cavus	0	HINT1 CL E G H	3094	324442				ORPHA	0	15	82	4912	601314
HP:0001761	HP:0001761	Pes cavus	0	HS6ST1 CL E G H	9394	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	8	33	5201	604846
HP:0001761	HP:0001761	Pes cavus	0	HSPD1 CL E G H	3329	100994				ORPHA	0	6	128	5261	118190
HP:0001761	HP:0001761	Pes cavus	0	IL17RD CL E G H	54756	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	14	49	17616	606807
HP:0001761	HP:0001761	Pes cavus	0	KBTBD13 CL E G H	390594	171439				ORPHA	0	11	260	37227	613727
HP:0001761	HP:0001761	Pes cavus	0	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	13	91	6250	603305
HP:0001761	HP:0001761	Pes cavus	0	KISS1R CL E G H	84634	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	39	78	4510	604161
HP:0001761	HP:0001761	Pes cavus	0	KLHL41 CL E G H	10324	171439				ORPHA	0	9	98	16905	607701
HP:0001761	HP:0001761	Pes cavus	0	LBR CL E G H	3930	169400	Pelger-Huët anomaly	169400	C0030779	OMIM	0	28	172	6518	600024
HP:0001761	HP:0001761	Pes cavus	0	MRE11 CL E G H	4361	251347				ORPHA	0	57	1104	7230	600814
HP:0001761	HP:0001761	Pes cavus	0	MYO9A CL E G H	4649	98914				ORPHA	0	6	95	7608	604875
HP:0001761	HP:0001761	Pes cavus	0	MYPN CL E G H	84665	171439				ORPHA	0	46	664	23246	608517
HP:0001761	HP:0001761	Pes cavus	0	MYPN CL E G H	84665	617336	Nemaline myopathy 11, autosomal recessive	617336	C4479186	OMIM	0	46	664	23246	608517
HP:0001761	HP:0001761	Pes cavus	0	NEB CL E G H	4703	171439				ORPHA	0	321	3010	7720	161650
HP:0001761	HP:0001761	Pes cavus	0	NLRP3 CL E G H	114548	575	Aicardi Goutieres syndrome		C0393591	ORPHA	0	142	488	16400	606416
HP:0001761	HP:0001761	Pes cavus	0	NSD1 CL E G H	64324	3447				ORPHA	0	525	896	14234	606681
HP:0001761	HP:0001761	Pes cavus	0	NSMF CL E G H	26012	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	9	104	29843	608137
HP:0001761	HP:0001761	Pes cavus	0	NSUN2 CL E G H	54888	611091	Mental retardation, autosomal recessive 5	611091	C1970199	OMIM	0	7	260	25994	610916
HP:0001761	HP:0001761	Pes cavus	0	OPA3 CL E G H	80207	67036				ORPHA	0	15	318	8142	606580
HP:0001761	HP:0001761	Pes cavus	0	PEX10 CL E G H	5192	247815				ORPHA	0	32	347	8851	602859
HP:0001761	HP:0001761	Pes cavus	0	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	0	32	347	8851	602859
HP:0001761	HP:0001761	Pes cavus	0	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	0	18	208	9717	170993
HP:0001761	HP:0001761	Pes cavus	0	PEX7 CL E G H	5191	773				ORPHA	0	53	187	8860	601757
HP:0001761	HP:0001761	Pes cavus	0	PHYH CL E G H	5264	773				ORPHA	0	37	127	8940	602026
HP:0001761	HP:0001761	Pes cavus	0	PIGN CL E G H	23556	280633	Multiple congenital anomalies-hypotonia-seizures syndrome		CN228166	ORPHA	0	34	416	8967	606097
HP:0001761	HP:0001761	Pes cavus	0	PMP22 CL E G H	5376	640				ORPHA	0	165	337	9118	601097
HP:0001761	HP:0001761	Pes cavus	0	PMPCA CL E G H	23203	213200	Spinocerebellar ataxia, autosomal recessive 2	213200	C1859298	OMIM	0	8	96	18667	613036
HP:0001761	HP:0001761	Pes cavus	0	PROK2 CL E G H	60675	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	21	34	18455	607002
HP:0001761	HP:0001761	Pes cavus	0	PROKR2 CL E G H	128674	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	83	98	15836	607123
HP:0001761	HP:0001761	Pes cavus	0	REEP1 CL E G H	65055	139536				ORPHA	0	61	227	25786	609139
HP:0001761	HP:0001761	Pes cavus	0	REEP1 CL E G H	65055	610250	Spastic paraplegia 31, autosomal dominant	610250	C1853247	OMIM	0	61	227	25786	609139
HP:0001761	HP:0001761	Pes cavus	0	REEP2 CL E G H	51308	615625	Spastic paraplegia 72, autosomal recessive	615625	C3810160	OMIM	0	5	35	17975	609347
HP:0001761	HP:0001761	Pes cavus	0	RYR1 CL E G H	6261	169186				ORPHA	0	688	3094	10483	180901
HP:0001761	HP:0001761	Pes cavus	0	SEMA3A CL E G H	10371	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	31	82	10723	603961
HP:0001761	HP:0001761	Pes cavus	0	SETX CL E G H	23064	357043				ORPHA	0	216	651	445	608465
HP:0001761	HP:0001761	Pes cavus	0	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	0	216	651	445	608465
HP:0001761	HP:0001761	Pes cavus	0	SIN3A CL E G H	25942	94065				ORPHA	0	16	116	19353	607776
HP:0001761	HP:0001761	Pes cavus	0	SLC18A3 CL E G H	6572	98914				ORPHA	0	6	89	10936	600336
HP:0001761	HP:0001761	Pes cavus	0	SLC25A1 CL E G H	6576	98914				ORPHA	0	24	429	10979	190315
HP:0001761	HP:0001761	Pes cavus	0	SLC5A7 CL E G H	60482	98914				ORPHA	0	20	169	14025	608761
HP:0001761	HP:0001761	Pes cavus	0	SNAP25 CL E G H	6616	98914				ORPHA	0	7	64	11132	600322
HP:0001761	HP:0001761	Pes cavus	0	SOX10 CL E G H	6663	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	151	192	11190	602229
HP:0001761	HP:0001761	Pes cavus	0	SPART CL E G H	23111	101000				ORPHA	0	7	183	18514	607111
HP:0001761	HP:0001761	Pes cavus	0	SPAST CL E G H	6683	100985				ORPHA	0	727	572	11233	604277
HP:0001761	HP:0001761	Pes cavus	0	SPEG CL E G H	10290	169186				ORPHA	0	13	198	16901	615950
HP:0001761	HP:0001761	Pes cavus	0	SPG11 CL E G H	80208	616668	Charcot-Marie-Tooth disease, axonal type 2X	616668	C4225253	OMIM	0	293	1065	11226	610844
HP:0001761	HP:0001761	Pes cavus	0	SPG7 CL E G H	6687	99013				ORPHA	0	111	460	11237	602783
HP:0001761	HP:0001761	Pes cavus	0	SPRY4 CL E G H	81848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	11	33	15533	607984
HP:0001761	HP:0001761	Pes cavus	0	SUZ12 CL E G H	23512	3447				ORPHA	0	3	72	17101	606245
HP:0001761	HP:0001761	Pes cavus	0	SYT2 CL E G H	127833	98914				ORPHA	0	3	39	11510	600104
HP:0001761	HP:0001761	Pes cavus	0	TACR3 CL E G H	6870	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	37	79	11528	162332
HP:0001761	HP:0001761	Pes cavus	0	TPM2 CL E G H	7169	171439				ORPHA	0	40	199	12011	190990
HP:0001761	HP:0001761	Pes cavus	0	TPM3 CL E G H	7170	171439				ORPHA	0	28	225	12012	191030
HP:0001761	HP:0001761	Pes cavus	0	TRAPPC11 CL E G H	60684	869				ORPHA	0	17	351	25751	614138
HP:0001761	HP:0001761	Pes cavus	0	TTN CL E G H	7273	169186				ORPHA	0	346	14385	12403	188840
HP:0001761	HP:0001761	Pes cavus	0	TWNK CL E G H	56652	616138	Perrault syndrome 5	616138	C4015307	OMIM	0	83	194	1160	606075
HP:0001761	HP:0001761	Pes cavus	0	VAMP1 CL E G H	6843	98914				ORPHA	0	6	64	12642	185880
HP:0001761	HP:0001761	Pes cavus	0	VAMP1 CL E G H	6843	251282				ORPHA	0	6	64	12642	185880
HP:0001761	HP:0001761	Pes cavus	0	WDR11 CL E G H	55717	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	18	91	13831	606417
HP:0001761	HP:0001761	Pes cavus	0	XRCC4 CL E G H	7518	616541	Short stature, microcephaly, and endocrine dysfunction	616541	C4225288	OMIM	0	15	37	12831	194363
HP:0001761	HP:0001761	Pes cavus	0	ZFYVE26 CL E G H	23503	100996				ORPHA	0	45	700	20761	612012
HP:0001761	HP:0001761	Pes cavus	1	AAAS CL E G H	8086	869				ORPHA	0	79	99	13666	605378
HP:0001761	HP:0001761	Pes cavus	1	ACTA1 CL E G H	58	171439				ORPHA	0	217	272	129	102610
HP:0001761	HP:0001761	Pes cavus	1	AGRN CL E G H	375790	98914				ORPHA	0	18	942	329	103320
HP:0001761	HP:0001761	Pes cavus	1	ANOS1 CL E G H	3730	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	191	346	6211	300836
HP:0001761	HP:0001761	Pes cavus	1	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	0	44	365	30213	610513
HP:0001761	HP:0001761	Pes cavus	1	ATP1A3 CL E G H	478	1171				ORPHA	0	122	407	801	182350
HP:0001761	HP:0001761	Pes cavus	1	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	4	93	854	606939
HP:0001761	HP:0001761	Pes cavus	1	B4GALNT1 CL E G H	2583	101006				ORPHA	0	13	97	4117	601873
HP:0001761	HP:0001761	Pes cavus	1	BIN1 CL E G H	274	169186				ORPHA	0	17	315	1052	601248
HP:0001761	HP:0001761	Pes cavus	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	0	17	315	1052	601248
HP:0001761	HP:0001761	Pes cavus	1	BSCL2 CL E G H	26580	139536				ORPHA	0	50	263	15832	606158
HP:0001761	HP:0001761	Pes cavus	1	BSCL2 CL E G H	26580	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	0	50	263	15832	606158
HP:0001761	HP:0001761	Pes cavus	1	CAPN1 CL E G H	823	616907	Spastic paraplegia 76, autosomal recessive	616907	C4310800	OMIM	0	18	42	1476	114220
HP:0001761	HP:0001761	Pes cavus	1	CCDC141 CL E G H	285025	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	1	66	26821	616031
HP:0001761	HP:0001761	Pes cavus	1	CHAT CL E G H	1103	98914				ORPHA	0	77	374	1912	118490
HP:0001761	HP:0001761	Pes cavus	1	CHD7 CL E G H	55636	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	884	1266	20626	608892
HP:0001761	HP:0001761	Pes cavus	1	COASY CL E G H	80347	615643	Neurodegeneration with brain iron accumulation 6	615643	C3810230	OMIM	0	3	76	29932	609855
HP:0001761	HP:0001761	Pes cavus	1	COL13A1 CL E G H	1305	98914				ORPHA	0	3	68	2190	120350
HP:0001761	HP:0001761	Pes cavus	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	0	3	68	2190	120350
HP:0001761	HP:0001761	Pes cavus	1	CYP7B1 CL E G H	9420	270800	Spastic paraplegia 5A	270800	C1849115	OMIM	0	63	199	2652	603711
HP:0001761	HP:0001761	Pes cavus	1	DCC CL E G H	1630	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	41	123	2701	120470
HP:0001761	HP:0001761	Pes cavus	1	DHH CL E G H	50846	168563				ORPHA	0	18	61	2865	605423
HP:0001761	HP:0001761	Pes cavus	1	DNAJB2 CL E G H	3300	614881	Spinal muscular atrophy, distal, autosomal recessive, 5	614881	C3553989	OMIM	0	5	150	5228	604139
HP:0001761	HP:0001761	Pes cavus	1	DUSP6 CL E G H	1848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	5	24	3072	602748
HP:0001761	HP:0001761	Pes cavus	1	EED CL E G H	8726	3447				ORPHA	0	9	49	3188	605984
HP:0001761	HP:0001761	Pes cavus	1	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	59	263	3437	133530
HP:0001761	HP:0001761	Pes cavus	1	EZH2 CL E G H	2146	3447				ORPHA	0	42	235	3527	601573
HP:0001761	HP:0001761	Pes cavus	1	FBXO38 CL E G H	81545	615575	Distal hereditary motor neuronopathy 2D	615575	C3711384	OMIM	0	5	195	28844	608533
HP:0001761	HP:0001761	Pes cavus	1	FEZF1 CL E G H	389549	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	3	41	22788	613301
HP:0001761	HP:0001761	Pes cavus	1	FGF14 CL E G H	2259	609307	Spinocerebellar ataxia 27	609307	C1836383	OMIM	0	10	163	3671	601515
HP:0001761	HP:0001761	Pes cavus	1	FGF17 CL E G H	8822	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	5	82	3673	603725
HP:0001761	HP:0001761	Pes cavus	1	FGF8 CL E G H	2253	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	41	54	3686	600483
HP:0001761	HP:0001761	Pes cavus	1	FGFR1 CL E G H	2260	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	265	388	3688	136350
HP:0001761	HP:0001761	Pes cavus	1	FLRT3 CL E G H	23767	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	7	41	3762	604808
HP:0001761	HP:0001761	Pes cavus	1	GARS CL E G H	2617	139536				ORPHA	0	41		4162	600287
HP:0001761	HP:0001761	Pes cavus	1	GARS CL E G H	2617	600794	Distal hereditary motor neuronopathy type 5	600794	C1833308	OMIM	0	41		4162	600287
HP:0001761	HP:0001761	Pes cavus	1	GBA2 CL E G H	57704	352641				ORPHA	0	23	194	18986	609471
HP:0001761	HP:0001761	Pes cavus	1	GBA2 CL E G H	57704	320391				ORPHA	0	23	194	18986	609471
HP:0001761	HP:0001761	Pes cavus	1	GMPPA CL E G H	29926	869				ORPHA	0	12	74	22923	615495
HP:0001761	HP:0001761	Pes cavus	1	GTF2E2 CL E G H	2961	616943	Trichothiodystrophy 6, nonphotosensitive	616943	C4310785	OMIM	0	2	69	4651	189964
HP:0001761	HP:0001761	Pes cavus	1	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	0	71	302	4801	600890
HP:0001761	HP:0001761	Pes cavus	1	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	0	67	148	4803	143450
HP:0001761	HP:0001761	Pes cavus	1	HESX1 CL E G H	8820	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	27	46	4877	601802
HP:0001761	HP:0001761	Pes cavus	1	HINT1 CL E G H	3094	324442				ORPHA	0	15	82	4912	601314
HP:0001761	HP:0001761	Pes cavus	1	HS6ST1 CL E G H	9394	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	8	33	5201	604846
HP:0001761	HP:0001761	Pes cavus	1	HSPD1 CL E G H	3329	100994				ORPHA	0	6	128	5261	118190
HP:0001761	HP:0001761	Pes cavus	1	IL17RD CL E G H	54756	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	14	49	17616	606807
HP:0001761	HP:0001761	Pes cavus	1	KBTBD13 CL E G H	390594	171439				ORPHA	0	11	260	37227	613727
HP:0001761	HP:0001761	Pes cavus	1	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	13	91	6250	603305
HP:0001761	HP:0001761	Pes cavus	1	KISS1R CL E G H	84634	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	39	78	4510	604161
HP:0001761	HP:0001761	Pes cavus	1	KLHL41 CL E G H	10324	171439				ORPHA	0	9	98	16905	607701
HP:0001761	HP:0001761	Pes cavus	1	LBR CL E G H	3930	169400	Pelger-Huët anomaly	169400	C0030779	OMIM	0	28	172	6518	600024
HP:0001761	HP:0001761	Pes cavus	1	MRE11 CL E G H	4361	251347				ORPHA	0	57	1104	7230	600814
HP:0001761	HP:0001761	Pes cavus	1	MYO9A CL E G H	4649	98914				ORPHA	0	6	95	7608	604875
HP:0001761	HP:0001761	Pes cavus	1	MYPN CL E G H	84665	171439				ORPHA	0	46	664	23246	608517
HP:0001761	HP:0001761	Pes cavus	1	MYPN CL E G H	84665	617336	Nemaline myopathy 11, autosomal recessive	617336	C4479186	OMIM	0	46	664	23246	608517
HP:0001761	HP:0001761	Pes cavus	1	NEB CL E G H	4703	171439				ORPHA	0	321	3010	7720	161650
HP:0001761	HP:0001761	Pes cavus	1	NLRP3 CL E G H	114548	575	Aicardi Goutieres syndrome		C0393591	ORPHA	0	142	488	16400	606416
HP:0001761	HP:0001761	Pes cavus	1	NSD1 CL E G H	64324	3447				ORPHA	0	525	896	14234	606681
HP:0001761	HP:0001761	Pes cavus	1	NSMF CL E G H	26012	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	9	104	29843	608137
HP:0001761	HP:0001761	Pes cavus	1	NSUN2 CL E G H	54888	611091	Mental retardation, autosomal recessive 5	611091	C1970199	OMIM	0	7	260	25994	610916
HP:0001761	HP:0001761	Pes cavus	1	OPA3 CL E G H	80207	67036				ORPHA	0	15	318	8142	606580
HP:0001761	HP:0001761	Pes cavus	1	PEX10 CL E G H	5192	247815				ORPHA	0	32	347	8851	602859
HP:0001761	HP:0001761	Pes cavus	1	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	0	32	347	8851	602859
HP:0001761	HP:0001761	Pes cavus	1	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	0	18	208	9717	170993
HP:0001761	HP:0001761	Pes cavus	1	PEX7 CL E G H	5191	773				ORPHA	0	53	187	8860	601757
HP:0001761	HP:0001761	Pes cavus	1	PHYH CL E G H	5264	773				ORPHA	0	37	127	8940	602026
HP:0001761	HP:0001761	Pes cavus	1	PIGN CL E G H	23556	280633	Multiple congenital anomalies-hypotonia-seizures syndrome		CN228166	ORPHA	0	34	416	8967	606097
HP:0001761	HP:0001761	Pes cavus	1	PMP22 CL E G H	5376	640				ORPHA	0	165	337	9118	601097
HP:0001761	HP:0001761	Pes cavus	1	PMPCA CL E G H	23203	213200	Spinocerebellar ataxia, autosomal recessive 2	213200	C1859298	OMIM	0	8	96	18667	613036
HP:0001761	HP:0001761	Pes cavus	1	PROK2 CL E G H	60675	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	21	34	18455	607002
HP:0001761	HP:0001761	Pes cavus	1	PROKR2 CL E G H	128674	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	83	98	15836	607123
HP:0001761	HP:0001761	Pes cavus	1	REEP1 CL E G H	65055	139536				ORPHA	0	61	227	25786	609139
HP:0001761	HP:0001761	Pes cavus	1	REEP1 CL E G H	65055	610250	Spastic paraplegia 31, autosomal dominant	610250	C1853247	OMIM	0	61	227	25786	609139
HP:0001761	HP:0001761	Pes cavus	1	REEP2 CL E G H	51308	615625	Spastic paraplegia 72, autosomal recessive	615625	C3810160	OMIM	0	5	35	17975	609347
HP:0001761	HP:0001761	Pes cavus	1	RYR1 CL E G H	6261	169186				ORPHA	0	688	3094	10483	180901
HP:0001761	HP:0001761	Pes cavus	1	SEMA3A CL E G H	10371	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	31	82	10723	603961
HP:0001761	HP:0001761	Pes cavus	1	SETX CL E G H	23064	357043				ORPHA	0	216	651	445	608465
HP:0001761	HP:0001761	Pes cavus	1	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	0	216	651	445	608465
HP:0001761	HP:0001761	Pes cavus	1	SIN3A CL E G H	25942	94065				ORPHA	0	16	116	19353	607776
HP:0001761	HP:0001761	Pes cavus	1	SLC18A3 CL E G H	6572	98914				ORPHA	0	6	89	10936	600336
HP:0001761	HP:0001761	Pes cavus	1	SLC25A1 CL E G H	6576	98914				ORPHA	0	24	429	10979	190315
HP:0001761	HP:0001761	Pes cavus	1	SLC5A7 CL E G H	60482	98914				ORPHA	0	20	169	14025	608761
HP:0001761	HP:0001761	Pes cavus	1	SNAP25 CL E G H	6616	98914				ORPHA	0	7	64	11132	600322
HP:0001761	HP:0001761	Pes cavus	1	SOX10 CL E G H	6663	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	151	192	11190	602229
HP:0001761	HP:0001761	Pes cavus	1	SPART CL E G H	23111	101000				ORPHA	0	7	183	18514	607111
HP:0001761	HP:0001761	Pes cavus	1	SPAST CL E G H	6683	100985				ORPHA	0	727	572	11233	604277
HP:0001761	HP:0001761	Pes cavus	1	SPEG CL E G H	10290	169186				ORPHA	0	13	198	16901	615950
HP:0001761	HP:0001761	Pes cavus	1	SPG11 CL E G H	80208	616668	Charcot-Marie-Tooth disease, axonal type 2X	616668	C4225253	OMIM	0	293	1065	11226	610844
HP:0001761	HP:0001761	Pes cavus	1	SPG7 CL E G H	6687	99013				ORPHA	0	111	460	11237	602783
HP:0001761	HP:0001761	Pes cavus	1	SPRY4 CL E G H	81848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	11	33	15533	607984
HP:0001761	HP:0001761	Pes cavus	1	SUZ12 CL E G H	23512	3447				ORPHA	0	3	72	17101	606245
HP:0001761	HP:0001761	Pes cavus	1	SYT2 CL E G H	127833	98914				ORPHA	0	3	39	11510	600104
HP:0001761	HP:0001761	Pes cavus	1	TACR3 CL E G H	6870	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	37	79	11528	162332
HP:0001761	HP:0001761	Pes cavus	1	TPM2 CL E G H	7169	171439				ORPHA	0	40	199	12011	190990
HP:0001761	HP:0001761	Pes cavus	1	TPM3 CL E G H	7170	171439				ORPHA	0	28	225	12012	191030
HP:0001761	HP:0001761	Pes cavus	1	TRAPPC11 CL E G H	60684	869				ORPHA	0	17	351	25751	614138
HP:0001761	HP:0001761	Pes cavus	1	TTN CL E G H	7273	169186				ORPHA	0	346	14385	12403	188840
HP:0001761	HP:0001761	Pes cavus	1	TWNK CL E G H	56652	616138	Perrault syndrome 5	616138	C4015307	OMIM	0	83	194	1160	606075
HP:0001761	HP:0001761	Pes cavus	1	VAMP1 CL E G H	6843	98914				ORPHA	0	6	64	12642	185880
HP:0001761	HP:0001761	Pes cavus	1	VAMP1 CL E G H	6843	251282				ORPHA	0	6	64	12642	185880
HP:0001761	HP:0001761	Pes cavus	1	WDR11 CL E G H	55717	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	18	91	13831	606417
HP:0001761	HP:0001761	Pes cavus	1	XRCC4 CL E G H	7518	616541	Short stature, microcephaly, and endocrine dysfunction	616541	C4225288	OMIM	0	15	37	12831	194363
HP:0001761	HP:0001761	Pes cavus	1	ZFYVE26 CL E G H	23503	100996				ORPHA	0	45	700	20761	612012