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:0001761	HP:0001761	Pes cavus	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	57
HP:0001761	HP:0001761	Pes cavus	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N	.
HP:0001761	HP:0001761	Pes cavus	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.	50
HP:0001761	HP:0001761	Pes cavus	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0001761	HP:0001761	Pes cavus	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0001761	HP:0001761	Pes cavus	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0001761	HP:0001761	Pes cavus	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0001761	HP:0001761	Pes cavus	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0001761	HP:0001761	Pes cavus	0	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4	HP:0040281 - Very frequent	60
HP:0001761	HP:0001761	Pes cavus	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040282 - Frequent	89
HP:0001761	HP:0001761	Pes cavus	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0001761	HP:0001761	Pes cavus	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0001761	HP:0001761	Pes cavus	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0001761	HP:0001761	Pes cavus	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0001761	HP:0001761	Pes cavus	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	.	64
HP:0001761	HP:0001761	Pes cavus	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0001761	HP:0001761	Pes cavus	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	65
HP:0001761	HP:0001761	Pes cavus	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0001761	HP:0001761	Pes cavus	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0001761	HP:0001761	Pes cavus	0	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID	.	71
HP:0001761	HP:0001761	Pes cavus	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0001761	HP:0001761	Pes cavus	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0001761	HP:0001761	Pes cavus	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0001761	HP:0001761	Pes cavus	0	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD	.	4
HP:0001761	HP:0001761	Pes cavus	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.	150
HP:0001761	HP:0001761	Pes cavus	0	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	HP:0040283 - Occasional	150
HP:0001761	HP:0001761	Pes cavus	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	5
HP:0001761	HP:0001761	Pes cavus	0	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3	.	192
HP:0001761	HP:0001761	Pes cavus	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0001761	HP:0001761	Pes cavus	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040283 - Occasional	25
HP:0001761	HP:0001761	Pes cavus	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0001761	HP:0001761	Pes cavus	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0001761	HP:0001761	Pes cavus	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0001761	HP:0001761	Pes cavus	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0001761	HP:0001761	Pes cavus	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	HP:0040283 - Occasional	99
HP:0001761	HP:0001761	Pes cavus	0	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040283 - Occasional	105
HP:0001761	HP:0001761	Pes cavus	0	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0001761	HP:0001761	Pes cavus	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0001761	HP:0001761	Pes cavus	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent	114
HP:0001761	HP:0001761	Pes cavus	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0001761	HP:0001761	Pes cavus	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.	114
HP:0001761	HP:0001761	Pes cavus	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040282 - Frequent	4
HP:0001761	HP:0001761	Pes cavus	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0001761	HP:0001761	Pes cavus	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001761	HP:0001761	Pes cavus	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0001761	HP:0001761	Pes cavus	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type	.	148
HP:0001761	HP:0001761	Pes cavus	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0001761	HP:0001761	Pes cavus	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	65
HP:0001761	HP:0001761	Pes cavus	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	.	11
HP:0001761	HP:0001761	Pes cavus	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	515
HP:0001761	HP:0001761	Pes cavus	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.	19
HP:0001761	HP:0001761	Pes cavus	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0001761	HP:0001761	Pes cavus	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0001761	HP:0001761	Pes cavus	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0001761	HP:0001761	Pes cavus	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	HP:0040283 - Occasional	16
HP:0001761	HP:0001761	Pes cavus	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	HP:0040283 - Occasional	6
HP:0001761	HP:0001761	Pes cavus	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0001761	HP:0001761	Pes cavus	0	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	.	136
HP:0001761	HP:0001761	Pes cavus	0	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D	.	4
HP:0001761	HP:0001761	Pes cavus	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73		1
HP:0001761	HP:0001761	Pes cavus	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.	17
HP:0001761	HP:0001761	Pes cavus	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.	38
HP:0001761	HP:0001761	Pes cavus	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent	38
HP:0001761	HP:0001761	Pes cavus	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0001761	HP:0001761	Pes cavus	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040282 - Frequent	57
HP:0001761	HP:0001761	Pes cavus	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	HP:0040283 - Occasional	57
HP:0001761	HP:0001761	Pes cavus	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.	2
HP:0001761	HP:0001761	Pes cavus	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	36
HP:0001761	HP:0001761	Pes cavus	0	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28	HP:0040282 - Frequent	35
HP:0001761	HP:0001761	Pes cavus	0	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.	35
HP:0001761	HP:0001761	Pes cavus	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0001761	HP:0001761	Pes cavus	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040283 - Occasional	21
HP:0001761	HP:0001761	Pes cavus	0	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q		12
HP:0001761	HP:0001761	Pes cavus	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent	3
HP:0001761	HP:0001761	Pes cavus	0	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5	HP:0040283 - Occasional	30
HP:0001761	HP:0001761	Pes cavus	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	6
HP:0001761	HP:0001761	Pes cavus	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	94
HP:0001761	HP:0001761	Pes cavus	0	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	.	167
HP:0001761	HP:0001761	Pes cavus	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0001761	HP:0001761	Pes cavus	0	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O	.	427
HP:0001761	HP:0001761	Pes cavus	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional	600
HP:0001761	HP:0001761	Pes cavus	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	4
HP:0001761	HP:0001761	Pes cavus	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	58
HP:0001761	HP:0001761	Pes cavus	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0001761	HP:0001761	Pes cavus	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0001761	HP:0001761	Pes cavus	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0001761	HP:0001761	Pes cavus	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G	HP:0040283 - Occasional	83
HP:0001761	HP:0001761	Pes cavus	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0001761	HP:0001761	Pes cavus	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	81
HP:0001761	HP:0001761	Pes cavus	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0001761	HP:0001761	Pes cavus	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040282 - Frequent	7
HP:0001761	HP:0001761	Pes cavus	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0001761	HP:0001761	Pes cavus	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0001761	HP:0001761	Pes cavus	0	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID	HP:0040283 - Occasional	1
HP:0001761	HP:0001761	Pes cavus	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0001761	HP:0001761	Pes cavus	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	2
HP:0001761	HP:0001761	Pes cavus	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0001761	HP:0001761	Pes cavus	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0001761	HP:0001761	Pes cavus	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040282 - Frequent	47
HP:0001761	HP:0001761	Pes cavus	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	3
HP:0001761	HP:0001761	Pes cavus	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	17
HP:0001761	HP:0001761	Pes cavus	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	172
HP:0001761	HP:0001761	Pes cavus	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0001761	HP:0001761	Pes cavus	0	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0001761	HP:0001761	Pes cavus	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0001761	HP:0001761	Pes cavus	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0001761	HP:0001761	Pes cavus	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0001761	HP:0001761	Pes cavus	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent	18
HP:0001761	HP:0001761	Pes cavus	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.	18
HP:0001761	HP:0001761	Pes cavus	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040284 - Very rare	160
HP:0001761	HP:0001761	Pes cavus	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional	160
HP:0001761	HP:0001761	Pes cavus	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040282 - Frequent	121
HP:0001761	HP:0001761	Pes cavus	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0001761	HP:0001761	Pes cavus	0	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0001761	HP:0001761	Pes cavus	0	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040283 - Occasional
HP:0001761	HP:0001761	Pes cavus	0	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA	HP:0040283 - Occasional
HP:0001761	HP:0001761	Pes cavus	0	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0001761	HP:0001761	Pes cavus	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0001761	HP:0001761	Pes cavus	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040283 - Occasional	30
HP:0001761	HP:0001761	Pes cavus	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional	30
HP:0001761	HP:0001761	Pes cavus	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0001761	HP:0001761	Pes cavus	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0001761	HP:0001761	Pes cavus	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	86
HP:0001761	HP:0001761	Pes cavus	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0001761	HP:0001761	Pes cavus	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0001761	HP:0001761	Pes cavus	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0001761	HP:0001761	Pes cavus	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive	.	108
HP:0001761	HP:0001761	Pes cavus	0	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.	108
HP:0001761	HP:0001761	Pes cavus	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0001761	HP:0001761	Pes cavus	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040281 - Very frequent	107
HP:0001761	HP:0001761	Pes cavus	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent	107
HP:0001761	HP:0001761	Pes cavus	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.	199
HP:0001761	HP:0001761	Pes cavus	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.	199
HP:0001761	HP:0001761	Pes cavus	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040281 - Very frequent	37
HP:0001761	HP:0001761	Pes cavus	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.	37
HP:0001761	HP:0001761	Pes cavus	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	24
HP:0001761	HP:0001761	Pes cavus	0	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F	.	12
HP:0001761	HP:0001761	Pes cavus	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0001761	HP:0001761	Pes cavus	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6		88
HP:0001761	HP:0001761	Pes cavus	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional	434
HP:0001761	HP:0001761	Pes cavus	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0001761	HP:0001761	Pes cavus	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive	HP:0040283 - Occasional	2
HP:0001761	HP:0001761	Pes cavus	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001761	HP:0001761	Pes cavus	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0001761	HP:0001761	Pes cavus	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	99
HP:0001761	HP:0001761	Pes cavus	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional	60
HP:0001761	HP:0001761	Pes cavus	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040282 - Frequent
HP:0001761	HP:0001761	Pes cavus	0	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0001761	HP:0001761	Pes cavus	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	37
HP:0001761	HP:0001761	Pes cavus	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	21
HP:0001761	HP:0001761	Pes cavus	0	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form		80
HP:0001761	HP:0001761	Pes cavus	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0001761	HP:0001761	Pes cavus	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040282 - Frequent	11
HP:0001761	HP:0001761	Pes cavus	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	8
HP:0001761	HP:0001761	Pes cavus	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	.	98
HP:0001761	HP:0001761	Pes cavus	0	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F	.	47
HP:0001761	HP:0001761	Pes cavus	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L	.	38
HP:0001761	HP:0001761	Pes cavus	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040283 - Occasional	46
HP:0001761	HP:0001761	Pes cavus	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent	16
HP:0001761	HP:0001761	Pes cavus	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0001761	HP:0001761	Pes cavus	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.	115
HP:0001761	HP:0001761	Pes cavus	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0001761	HP:0001761	Pes cavus	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040282 - Frequent	1
HP:0001761	HP:0001761	Pes cavus	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0001761	HP:0001761	Pes cavus	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	1
HP:0001761	HP:0001761	Pes cavus	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.	135
HP:0001761	HP:0001761	Pes cavus	0	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome	HP:0040282 - Frequent	119
HP:0001761	HP:0001761	Pes cavus	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0001761	HP:0001761	Pes cavus	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0001761	HP:0001761	Pes cavus	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0001761	HP:0001761	Pes cavus	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0001761	HP:0001761	Pes cavus	0	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B	.
HP:0001761	HP:0001761	Pes cavus	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0001761	HP:0001761	Pes cavus	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	13
HP:0001761	HP:0001761	Pes cavus	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	7
HP:0001761	HP:0001761	Pes cavus	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.	202
HP:0001761	HP:0001761	Pes cavus	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10		93
HP:0001761	HP:0001761	Pes cavus	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0001761	HP:0001761	Pes cavus	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0001761	HP:0001761	Pes cavus	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent	1
HP:0001761	HP:0001761	Pes cavus	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0001761	HP:0001761	Pes cavus	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0001761	HP:0001761	Pes cavus	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0001761	HP:0001761	Pes cavus	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0001761	HP:0001761	Pes cavus	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.	134
HP:0001761	HP:0001761	Pes cavus	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.	211
HP:0001761	HP:0001761	Pes cavus	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	8
HP:0001761	HP:0001761	Pes cavus	0	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS		8
HP:0001761	HP:0001761	Pes cavus	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001761	HP:0001761	Pes cavus	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6		7
HP:0001761	HP:0001761	Pes cavus	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C	.	74
HP:0001761	HP:0001761	Pes cavus	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001761	HP:0001761	Pes cavus	0	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.	645
HP:0001761	HP:0001761	Pes cavus	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0001761	HP:0001761	Pes cavus	0	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	.	102
HP:0001761	HP:0001761	Pes cavus	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.	63
HP:0001761	HP:0001761	Pes cavus	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0001761	HP:0001761	Pes cavus	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0001761	HP:0001761	Pes cavus	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0001761	HP:0001761	Pes cavus	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0001761	HP:0001761	Pes cavus	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13	.	950
HP:0001761	HP:0001761	Pes cavus	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0001761	HP:0001761	Pes cavus	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent	203
HP:0001761	HP:0001761	Pes cavus	0	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	.	203
HP:0001761	HP:0001761	Pes cavus	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.	203
HP:0001761	HP:0001761	Pes cavus	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0001761	HP:0001761	Pes cavus	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0001761	HP:0001761	Pes cavus	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent	18
HP:0001761	HP:0001761	Pes cavus	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0001761	HP:0001761	Pes cavus	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0001761	HP:0001761	Pes cavus	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	.	8
HP:0001761	HP:0001761	Pes cavus	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE	.	56
HP:0001761	HP:0001761	Pes cavus	0	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I	.	134
HP:0001761	HP:0001761	Pes cavus	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.	134
HP:0001761	HP:0001761	Pes cavus	0	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J		134
HP:0001761	HP:0001761	Pes cavus	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	134
HP:0001761	HP:0001761	Pes cavus	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	134
HP:0001761	HP:0001761	Pes cavus	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0001761	HP:0001761	Pes cavus	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional	532
HP:0001761	HP:0001761	Pes cavus	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0001761	HP:0001761	Pes cavus	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0001761	HP:0001761	Pes cavus	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040282 - Frequent
HP:0001761	HP:0001761	Pes cavus	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0001761	HP:0001761	Pes cavus	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent	1269
HP:0001761	HP:0001761	Pes cavus	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0001761	HP:0001761	Pes cavus	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0001761	HP:0001761	Pes cavus	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0001761	HP:0001761	Pes cavus	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0001761	HP:0001761	Pes cavus	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0001761	HP:0001761	Pes cavus	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	HP:0040283 - Occasional	217
HP:0001761	HP:0001761	Pes cavus	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001761	HP:0001761	Pes cavus	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0001761	HP:0001761	Pes cavus	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040283 - Occasional	82
HP:0001761	HP:0001761	Pes cavus	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0001761	HP:0001761	Pes cavus	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC	.	24
HP:0001761	HP:0001761	Pes cavus	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040282 - Frequent	118
HP:0001761	HP:0001761	Pes cavus	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0001761	HP:0001761	Pes cavus	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	.	118
HP:0001761	HP:0001761	Pes cavus	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.	118
HP:0001761	HP:0001761	Pes cavus	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.	118
HP:0001761	HP:0001761	Pes cavus	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional	1952
HP:0001761	HP:0001761	Pes cavus	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0001761	HP:0001761	Pes cavus	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040282 - Frequent	117
HP:0001761	HP:0001761	Pes cavus	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0001761	HP:0001761	Pes cavus	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional	217
HP:0001761	HP:0001761	Pes cavus	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	27
HP:0001761	HP:0001761	Pes cavus	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0001761	HP:0001761	Pes cavus	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	544
HP:0001761	HP:0001761	Pes cavus	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	HP:0040283 - Occasional	84
HP:0001761	HP:0001761	Pes cavus	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0001761	HP:0001761	Pes cavus	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040283 - Occasional	214
HP:0001761	HP:0001761	Pes cavus	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	214
HP:0001761	HP:0001761	Pes cavus	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0001761	HP:0001761	Pes cavus	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0001761	HP:0001761	Pes cavus	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.	1
HP:0001761	HP:0001761	Pes cavus	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0001761	HP:0001761	Pes cavus	0	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	.	4
HP:0001761	HP:0001761	Pes cavus	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040281 - Very frequent	4
HP:0001761	HP:0001761	Pes cavus	0	PDXK CL E G H	8566	8819	OMIM:618511	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy	.
HP:0001761	HP:0001761	Pes cavus	0	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency	HP:0040284 - Very rare	75
HP:0001761	HP:0001761	Pes cavus	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	HP:0040283 - Occasional	75
HP:0001761	HP:0001761	Pes cavus	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	HP:0040283 - Occasional	82
HP:0001761	HP:0001761	Pes cavus	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0001761	HP:0001761	Pes cavus	0	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B	.	72
HP:0001761	HP:0001761	Pes cavus	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040283 - Occasional	72
HP:0001761	HP:0001761	Pes cavus	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.	72
HP:0001761	HP:0001761	Pes cavus	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040283 - Occasional	45
HP:0001761	HP:0001761	Pes cavus	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.	45
HP:0001761	HP:0001761	Pes cavus	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0001761	HP:0001761	Pes cavus	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0001761	HP:0001761	Pes cavus	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0001761	HP:0001761	Pes cavus	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C	.	186
HP:0001761	HP:0001761	Pes cavus	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0001761	HP:0001761	Pes cavus	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G	.	1
HP:0001761	HP:0001761	Pes cavus	0	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.	79
HP:0001761	HP:0001761	Pes cavus	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040282 - Frequent	79
HP:0001761	HP:0001761	Pes cavus	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0001761	HP:0001761	Pes cavus	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.	79
HP:0001761	HP:0001761	Pes cavus	0	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies	HP:0040283 - Occasional	79
HP:0001761	HP:0001761	Pes cavus	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	79
HP:0001761	HP:0001761	Pes cavus	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	79
HP:0001761	HP:0001761	Pes cavus	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0001761	HP:0001761	Pes cavus	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	HP:0040283 - Occasional	7
HP:0001761	HP:0001761	Pes cavus	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040283 - Occasional	244
HP:0001761	HP:0001761	Pes cavus	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.	60
HP:0001761	HP:0001761	Pes cavus	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent	60
HP:0001761	HP:0001761	Pes cavus	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	6
HP:0001761	HP:0001761	Pes cavus	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0001761	HP:0001761	Pes cavus	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0001761	HP:0001761	Pes cavus	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0001761	HP:0001761	Pes cavus	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0001761	HP:0001761	Pes cavus	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	34
HP:0001761	HP:0001761	Pes cavus	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5	.	49
HP:0001761	HP:0001761	Pes cavus	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040281 - Very frequent	49
HP:0001761	HP:0001761	Pes cavus	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.	170
HP:0001761	HP:0001761	Pes cavus	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	170
HP:0001761	HP:0001761	Pes cavus	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0001761	HP:0001761	Pes cavus	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0001761	HP:0001761	Pes cavus	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.	50
HP:0001761	HP:0001761	Pes cavus	0	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040282 - Frequent	87
HP:0001761	HP:0001761	Pes cavus	0	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040283 - Occasional	87
HP:0001761	HP:0001761	Pes cavus	0	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB	.	87
HP:0001761	HP:0001761	Pes cavus	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	HP:0040283 - Occasional	87
HP:0001761	HP:0001761	Pes cavus	0	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72	HP:0040282 - Frequent	3
HP:0001761	HP:0001761	Pes cavus	0	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive	HP:0040283 - Occasional	3
HP:0001761	HP:0001761	Pes cavus	0	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0001761	HP:0001761	Pes cavus	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0001761	HP:0001761	Pes cavus	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0001761	HP:0001761	Pes cavus	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0001761	HP:0001761	Pes cavus	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0001761	HP:0001761	Pes cavus	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0001761	HP:0001761	Pes cavus	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0001761	HP:0001761	Pes cavus	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0001761	HP:0001761	Pes cavus	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0001761	HP:0001761	Pes cavus	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0001761	HP:0001761	Pes cavus	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.	180
HP:0001761	HP:0001761	Pes cavus	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0001761	HP:0001761	Pes cavus	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	14
HP:0001761	HP:0001761	Pes cavus	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0001761	HP:0001761	Pes cavus	0	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4	HP:0040283 - Occasional	162
HP:0001761	HP:0001761	Pes cavus	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0001761	HP:0001761	Pes cavus	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040282 - Frequent	493
HP:0001761	HP:0001761	Pes cavus	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493
HP:0001761	HP:0001761	Pes cavus	0	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2	.	6
HP:0001761	HP:0001761	Pes cavus	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0001761	HP:0001761	Pes cavus	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0001761	HP:0001761	Pes cavus	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	28
HP:0001761	HP:0001761	Pes cavus	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0001761	HP:0001761	Pes cavus	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42		48
HP:0001761	HP:0001761	Pes cavus	0	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant	.	48
HP:0001761	HP:0001761	Pes cavus	0	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA	.	9
HP:0001761	HP:0001761	Pes cavus	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	9
HP:0001761	HP:0001761	Pes cavus	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0001761	HP:0001761	Pes cavus	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0001761	HP:0001761	Pes cavus	0	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0001761	HP:0001761	Pes cavus	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	61
HP:0001761	HP:0001761	Pes cavus	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0001761	HP:0001761	Pes cavus	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional	66
HP:0001761	HP:0001761	Pes cavus	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0001761	HP:0001761	Pes cavus	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040283 - Occasional	208
HP:0001761	HP:0001761	Pes cavus	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0001761	HP:0001761	Pes cavus	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0001761	HP:0001761	Pes cavus	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional	287
HP:0001761	HP:0001761	Pes cavus	0	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X	HP:0040283 - Occasional	287
HP:0001761	HP:0001761	Pes cavus	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0001761	HP:0001761	Pes cavus	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive	.	171
HP:0001761	HP:0001761	Pes cavus	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040283 - Occasional	171
HP:0001761	HP:0001761	Pes cavus	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	5
HP:0001761	HP:0001761	Pes cavus	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	.	54
HP:0001761	HP:0001761	Pes cavus	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040283 - Occasional	1
HP:0001761	HP:0001761	Pes cavus	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional	1129
HP:0001761	HP:0001761	Pes cavus	0	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8	.	1129
HP:0001761	HP:0001761	Pes cavus	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	9
HP:0001761	HP:0001761	Pes cavus	0	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic	.	4
HP:0001761	HP:0001761	Pes cavus	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	4
HP:0001761	HP:0001761	Pes cavus	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	34
HP:0001761	HP:0001761	Pes cavus	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent	52
HP:0001761	HP:0001761	Pes cavus	0	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	.	52
HP:0001761	HP:0001761	Pes cavus	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	80
HP:0001761	HP:0001761	Pes cavus	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0001761	HP:0001761	Pes cavus	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0001761	HP:0001761	Pes cavus	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0001761	HP:0001761	Pes cavus	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108
HP:0001761	HP:0001761	Pes cavus	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108
HP:0001761	HP:0001761	Pes cavus	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	27
HP:0001761	HP:0001761	Pes cavus	0	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.	3
HP:0001761	HP:0001761	Pes cavus	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0001761	HP:0001761	Pes cavus	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	2
HP:0001761	HP:0001761	Pes cavus	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128
HP:0001761	HP:0001761	Pes cavus	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040282 - Frequent	62
HP:0001761	HP:0001761	Pes cavus	0	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5	HP:0040283 - Occasional	113
HP:0001761	HP:0001761	Pes cavus	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0001761	HP:0001761	Pes cavus	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0001761	HP:0001761	Pes cavus	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0001761	HP:0001761	Pes cavus	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent	7
HP:0001761	HP:0001761	Pes cavus	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0001761	HP:0001761	Pes cavus	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0001761	HP:0001761	Pes cavus	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0001761	HP:0001761	Pes cavus	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040283 - Occasional	2
HP:0001761	HP:0001761	Pes cavus	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0001761	HP:0001761	Pes cavus	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.	2
HP:0001761	HP:0001761	Pes cavus	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040282 - Frequent	63
HP:0001761	HP:0001761	Pes cavus	0	VCP CL E G H	7415	12666	OMIM:616687	Charcot-Marie-Tooth disease, axonal, type 2Y	.	63
HP:0001761	HP:0001761	Pes cavus	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130
HP:0001761	HP:0001761	Pes cavus	0	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0001761	HP:0001761	Pes cavus	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0001761	HP:0001761	Pes cavus	0	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0001761	HP:0001761	Pes cavus	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001761	HP:0001761	Pes cavus	0	WARS1 CL E G H	7453	12729	OMIM:617721	Neuronopathy, distal hereditary motor, type IX	.
HP:0001761	HP:0001761	Pes cavus	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8		83
HP:0001761	HP:0001761	Pes cavus	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0001761	HP:0001761	Pes cavus	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	10
HP:0001761	HP:0001761	Pes cavus	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8
HP:0001761	HP:0001761	Pes cavus	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0001761	HP:0001761	Pes cavus	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0001761	HP:0001761	Pes cavus	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0001761	HP:0001761	Pes cavus	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional	189
HP:0001761	HP:0001761	Pes cavus	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0001761	HP:0008075	Progressive pes cavus	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0001761	HP:0008075	Progressive pes cavus	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040282 - Frequent	100
HP:0001761	HP:0008075	Progressive pes cavus	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040282 - Frequent	148
HP:0001761	HP:0008075	Progressive pes cavus	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040283 - Occasional	1
HP:0001761	HP:0008075	Progressive pes cavus	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0001761	HP:0008075	Progressive pes cavus	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040283 - Occasional	93
HP:0001761	HP:0008075	Progressive pes cavus	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040283 - Occasional
HP:0001761	HP:0008075	Progressive pes cavus	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent	25
HP:0001761	HP:0008075	Progressive pes cavus	1	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040283 - Occasional	48
HP:0001761	HP:0008075	Progressive pes cavus	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0001761	HP:0008075	Progressive pes cavus	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent	83