Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003028	HP:0003028	Abnormality of the ankles	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0003028	HP:0003028	Abnormality of the ankles	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0003028	HP:0003028	Abnormality of the ankles	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0003028	HP:0003028	Abnormality of the ankles	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0003028	HP:0003028	Abnormality of the ankles	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			530
HP:0003028	HP:0003028	Abnormality of the ankles	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency			62
HP:0003028	HP:0003028	Abnormality of the ankles	0	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0003028	HP:0003028	Abnormality of the ankles	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003028	HP:0003028	Abnormality of the ankles	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0003028	HP:0003028	Abnormality of the ankles	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0003028	HP:0003028	Abnormality of the ankles	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0003028	HP:0003028	Abnormality of the ankles	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3			71
HP:0003028	HP:0003028	Abnormality of the ankles	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0003028	HP:0003028	Abnormality of the ankles	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome			36
HP:0003028	HP:0003028	Abnormality of the ankles	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003028	HP:0003028	Abnormality of the ankles	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003028	HP:0003028	Abnormality of the ankles	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0003028	HP:0003028	Abnormality of the ankles	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003028	HP:0003028	Abnormality of the ankles	0	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0003028	HP:0003028	Abnormality of the ankles	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0003028	HP:0003028	Abnormality of the ankles	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive			114
HP:0003028	HP:0003028	Abnormality of the ankles	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76			4
HP:0003028	HP:0003028	Abnormality of the ankles	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0003028	HP:0003028	Abnormality of the ankles	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0003028	HP:0003028	Abnormality of the ankles	0	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		8
HP:0003028	HP:0003028	Abnormality of the ankles	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0003028	HP:0003028	Abnormality of the ankles	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0003028	HP:0003028	Abnormality of the ankles	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0003028	HP:0003028	Abnormality of the ankles	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0003028	HP:0003028	Abnormality of the ankles	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0003028	HP:0003028	Abnormality of the ankles	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003028	HP:0003028	Abnormality of the ankles	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type			79
HP:0003028	HP:0003028	Abnormality of the ankles	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0003028	HP:0003028	Abnormality of the ankles	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0003028	HP:0003028	Abnormality of the ankles	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0003028	HP:0003028	Abnormality of the ankles	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0003028	HP:0003028	Abnormality of the ankles	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0003028	HP:0003028	Abnormality of the ankles	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0003028	HP:0003028	Abnormality of the ankles	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0003028	HP:0003028	Abnormality of the ankles	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0003028	HP:0003028	Abnormality of the ankles	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0003028	HP:0003028	Abnormality of the ankles	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0003028	HP:0003028	Abnormality of the ankles	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0003028	HP:0003028	Abnormality of the ankles	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0003028	HP:0003028	Abnormality of the ankles	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional		110
HP:0003028	HP:0003028	Abnormality of the ankles	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional		110
HP:0003028	HP:0003028	Abnormality of the ankles	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional		137
HP:0003028	HP:0003028	Abnormality of the ankles	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0003028	HP:0003028	Abnormality of the ankles	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0003028	HP:0003028	Abnormality of the ankles	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0003028	HP:0003028	Abnormality of the ankles	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0003028	HP:0003028	Abnormality of the ankles	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0003028	HP:0003028	Abnormality of the ankles	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0003028	HP:0003028	Abnormality of the ankles	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0003028	HP:0003028	Abnormality of the ankles	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16			108
HP:0003028	HP:0003028	Abnormality of the ankles	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9			108
HP:0003028	HP:0003028	Abnormality of the ankles	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003028	HP:0003028	Abnormality of the ankles	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003028	HP:0003028	Abnormality of the ankles	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0003028	HP:0003028	Abnormality of the ankles	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0003028	HP:0003028	Abnormality of the ankles	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional		65
HP:0003028	HP:0003028	Abnormality of the ankles	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0003028	HP:0003028	Abnormality of the ankles	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003028	HP:0003028	Abnormality of the ankles	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0003028	HP:0003028	Abnormality of the ankles	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003028	HP:0003028	Abnormality of the ankles	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0003028	HP:0003028	Abnormality of the ankles	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0003028	HP:0003028	Abnormality of the ankles	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0003028	HP:0003028	Abnormality of the ankles	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas			96
HP:0003028	HP:0003028	Abnormality of the ankles	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas			102
HP:0003028	HP:0003028	Abnormality of the ankles	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0003028	HP:0003028	Abnormality of the ankles	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0003028	HP:0003028	Abnormality of the ankles	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0003028	HP:0003028	Abnormality of the ankles	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0003028	HP:0003028	Abnormality of the ankles	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0003028	HP:0003028	Abnormality of the ankles	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003028	HP:0003028	Abnormality of the ankles	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003028	HP:0003028	Abnormality of the ankles	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003028	HP:0003028	Abnormality of the ankles	0	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease			90
HP:0003028	HP:0003028	Abnormality of the ankles	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			10
HP:0003028	HP:0003028	Abnormality of the ankles	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			139
HP:0003028	HP:0003028	Abnormality of the ankles	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0003028	HP:0003028	Abnormality of the ankles	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0003028	HP:0003028	Abnormality of the ankles	0	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type	HP:0040281 - Very frequent		52
HP:0003028	HP:0003028	Abnormality of the ankles	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0003028	HP:0003028	Abnormality of the ankles	0	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease			37
HP:0003028	HP:0003028	Abnormality of the ankles	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0003028	HP:0003028	Abnormality of the ankles	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003028	HP:0003028	Abnormality of the ankles	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003028	HP:0003028	Abnormality of the ankles	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003028	HP:0003028	Abnormality of the ankles	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003028	HP:0003028	Abnormality of the ankles	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			54
HP:0003028	HP:0003028	Abnormality of the ankles	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0003028	HP:0003028	Abnormality of the ankles	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0003028	HP:0003028	Abnormality of the ankles	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0003028	HP:0003028	Abnormality of the ankles	0	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		65
HP:0003028	HP:0003028	Abnormality of the ankles	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0003028	HP:0003028	Abnormality of the ankles	0	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0003028	HP:0003028	Abnormality of the ankles	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003028	HP:0003028	Abnormality of the ankles	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0003028	HP:0003028	Abnormality of the ankles	0	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		276
HP:0003028	HP:0003028	Abnormality of the ankles	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive			276
HP:0003028	HP:0003028	Abnormality of the ankles	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0003028	HP:0003028	Abnormality of the ankles	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant			93
HP:0003028	HP:0003028	Abnormality of the ankles	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0003028	HP:0003028	Abnormality of the ankles	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy			3
HP:0003028	HP:0003028	Abnormality of the ankles	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0003028	HP:0003028	Abnormality of the ankles	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003028	HP:0003028	Abnormality of the ankles	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003028	HP:0003028	Abnormality of the ankles	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0003028	HP:0003028	Abnormality of the ankles	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0003028	HP:0003028	Abnormality of the ankles	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0003028	HP:0003028	Abnormality of the ankles	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0003028	HP:0003028	Abnormality of the ankles	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003028	HP:0003028	Abnormality of the ankles	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003028	HP:0003028	Abnormality of the ankles	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0003028	HP:0003028	Abnormality of the ankles	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003028	HP:0003028	Abnormality of the ankles	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003028	HP:0003028	Abnormality of the ankles	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0003028	HP:0003028	Abnormality of the ankles	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0003028	HP:0003028	Abnormality of the ankles	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0003028	HP:0003028	Abnormality of the ankles	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0003028	HP:0003028	Abnormality of the ankles	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0003028	HP:0003028	Abnormality of the ankles	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6			117
HP:0003028	HP:0003028	Abnormality of the ankles	0	NOG CL E G H	9241	7866	ORPHA:1412	Tarsal-carpal coalition syndrome	HP:0040281 - Very frequent		22
HP:0003028	HP:0003028	Abnormality of the ankles	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0003028	HP:0003028	Abnormality of the ankles	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0003028	HP:0003028	Abnormality of the ankles	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0003028	HP:0003028	Abnormality of the ankles	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional		97
HP:0003028	HP:0003028	Abnormality of the ankles	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0003028	HP:0003028	Abnormality of the ankles	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0003028	HP:0003028	Abnormality of the ankles	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0003028	HP:0003028	Abnormality of the ankles	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0003028	HP:0003028	Abnormality of the ankles	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0003028	HP:0003028	Abnormality of the ankles	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0003028	HP:0003028	Abnormality of the ankles	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0003028	HP:0003028	Abnormality of the ankles	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0003028	HP:0003028	Abnormality of the ankles	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0003028	HP:0003028	Abnormality of the ankles	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		4
HP:0003028	HP:0003028	Abnormality of the ankles	0	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0003028	HP:0003028	Abnormality of the ankles	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003028	HP:0003028	Abnormality of the ankles	0	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		3
HP:0003028	HP:0003028	Abnormality of the ankles	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0003028	HP:0003028	Abnormality of the ankles	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0003028	HP:0003028	Abnormality of the ankles	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0003028	HP:0003028	Abnormality of the ankles	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0003028	HP:0003028	Abnormality of the ankles	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant			87
HP:0003028	HP:0003028	Abnormality of the ankles	0	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		54
HP:0003028	HP:0003028	Abnormality of the ankles	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003028	HP:0003028	Abnormality of the ankles	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0003028	HP:0003028	Abnormality of the ankles	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant			25
HP:0003028	HP:0003028	Abnormality of the ankles	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0003028	HP:0003028	Abnormality of the ankles	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0003028	HP:0003028	Abnormality of the ankles	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome			4
HP:0003028	HP:0003028	Abnormality of the ankles	0	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			1053
HP:0003028	HP:0003028	Abnormality of the ankles	0	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			126
HP:0003028	HP:0003028	Abnormality of the ankles	0	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			427
HP:0003028	HP:0003028	Abnormality of the ankles	0	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			318
HP:0003028	HP:0003028	Abnormality of the ankles	0	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		318
HP:0003028	HP:0003028	Abnormality of the ankles	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0003028	HP:0003028	Abnormality of the ankles	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0003028	HP:0003028	Abnormality of the ankles	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0003028	HP:0003028	Abnormality of the ankles	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0003028	HP:0003028	Abnormality of the ankles	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0003028	HP:0003028	Abnormality of the ankles	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D			132
HP:0003028	HP:0003028	Abnormality of the ankles	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0003028	HP:0003028	Abnormality of the ankles	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0003028	HP:0003028	Abnormality of the ankles	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0003028	HP:0003028	Abnormality of the ankles	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome			5
HP:0003028	HP:0003028	Abnormality of the ankles	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0003028	HP:0003028	Abnormality of the ankles	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0003028	HP:0003028	Abnormality of the ankles	0	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0003028	HP:0003028	Abnormality of the ankles	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0003028	HP:0003028	Abnormality of the ankles	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0003028	HP:0003028	Abnormality of the ankles	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0003028	HP:0003028	Abnormality of the ankles	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4			208
HP:0003028	HP:0003028	Abnormality of the ankles	0	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X			287
HP:0003028	HP:0003028	Abnormality of the ankles	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0003028	HP:0003028	Abnormality of the ankles	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0003028	HP:0003028	Abnormality of the ankles	0	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		2
HP:0003028	HP:0003028	Abnormality of the ankles	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0003028	HP:0003028	Abnormality of the ankles	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0003028	HP:0003028	Abnormality of the ankles	0	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0003028	HP:0003028	Abnormality of the ankles	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003028	HP:0003028	Abnormality of the ankles	0	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus			9
HP:0003028	HP:0003028	Abnormality of the ankles	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0003028	HP:0003028	Abnormality of the ankles	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0003028	HP:0003028	Abnormality of the ankles	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0003028	HP:0003028	Abnormality of the ankles	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003028	HP:0003028	Abnormality of the ankles	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0003028	HP:0003028	Abnormality of the ankles	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003028	HP:0003028	Abnormality of the ankles	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0003028	HP:0003028	Abnormality of the ankles	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0003028	HP:0003028	Abnormality of the ankles	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0003028	HP:0003028	Abnormality of the ankles	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0003028	HP:0003028	Abnormality of the ankles	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0003028	HP:0003028	Abnormality of the ankles	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0003028	HP:0003028	Abnormality of the ankles	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0003028	HP:0003028	Abnormality of the ankles	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0003028	HP:0003028	Abnormality of the ankles	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0003028	HP:0003028	Abnormality of the ankles	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003028	HP:0003028	Abnormality of the ankles	0	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		199
HP:0003028	HP:0003028	Abnormality of the ankles	0	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant			52
HP:0003028	HP:0003028	Abnormality of the ankles	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0003028	HP:0032063	Ankle joint effusion	1	CL E G H
HP:0003028	HP:0011448	Ankle clonus	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0003028	HP:0011448	Ankle clonus	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0003028	HP:0006466	Ankle flexion contracture	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0003028	HP:0011448	Ankle clonus	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0003028	HP:0004684	Talipes valgus	1	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		530
HP:0003028	HP:0006466	Ankle flexion contracture	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional		62
HP:0003028	HP:0001785	Ankle swelling	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0003028	HP:0011448	Ankle clonus	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent		64
HP:0003028	HP:0006466	Ankle flexion contracture	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional		304
HP:0003028	HP:0006466	Ankle flexion contracture	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0003028	HP:0011448	Ankle clonus	1	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040282 - Frequent		71
HP:0003028	HP:0006466	Ankle flexion contracture	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0003028	HP:0011448	Ankle clonus	1	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040283 - Occasional		36
HP:0003028	HP:0006466	Ankle flexion contracture	1	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0003028	HP:0006466	Ankle flexion contracture	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent		114
HP:0003028	HP:0006466	Ankle flexion contracture	1	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.		114
HP:0003028	HP:0011448	Ankle clonus	1	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040283 - Occasional		4
HP:0003028	HP:0006466	Ankle flexion contracture	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent		323
HP:0003028	HP:0011448	Ankle clonus	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0003028	HP:0004684	Talipes valgus	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0003028	HP:0001785	Ankle swelling	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		8
HP:0003028	HP:0011448	Ankle clonus	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0003028	HP:0004684	Talipes valgus	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.		19
HP:0003028	HP:0003029	Enlargement of the ankles	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0003028	HP:0003029	Enlargement of the ankles	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0003028	HP:0006414	Distal tibial bowing	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.		79
HP:0003028	HP:0006466	Ankle flexion contracture	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		65
HP:0003028	HP:0006466	Ankle flexion contracture	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0003028	HP:0006466	Ankle flexion contracture	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent		3
HP:0003028	HP:0006466	Ankle flexion contracture	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		442
HP:0003028	HP:0006466	Ankle flexion contracture	1	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.		442
HP:0003028	HP:0006460	Increased laxity of ankles	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0003028	HP:0006466	Ankle flexion contracture	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		478
HP:0003028	HP:0006466	Ankle flexion contracture	1	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.		478
HP:0003028	HP:0006460	Increased laxity of ankles	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0003028	HP:0006466	Ankle flexion contracture	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		702
HP:0003028	HP:0006466	Ankle flexion contracture	1	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.		702
HP:0003028	HP:0006460	Increased laxity of ankles	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0003028	HP:0006460	Increased laxity of ankles	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional		89
HP:0003028	HP:0011448	Ankle clonus	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0003028	HP:0003029	Enlargement of the ankles	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		41
HP:0003028	HP:0003029	Enlargement of the ankles	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0003028	HP:0003029	Enlargement of the ankles	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		5
HP:0003028	HP:0003029	Enlargement of the ankles	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0003028	HP:0011448	Ankle clonus	1	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040282 - Frequent		57
HP:0003028	HP:0006466	Ankle flexion contracture	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040283 - Occasional		108
HP:0003028	HP:0006466	Ankle flexion contracture	1	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.		108
HP:0003028	HP:0006466	Ankle flexion contracture	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003028	HP:0004684	Talipes valgus	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0003028	HP:0006466	Ankle flexion contracture	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0003028	HP:0006466	Ankle flexion contracture	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0003028	HP:0006466	Ankle flexion contracture	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0003028	HP:0011448	Ankle clonus	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0003028	HP:0006466	Ankle flexion contracture	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent		18
HP:0003028	HP:0011448	Ankle clonus	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040283 - Occasional		18
HP:0003028	HP:0006466	Ankle flexion contracture	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040282 - Frequent		18
HP:0003028	HP:0006466	Ankle flexion contracture	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0003028	HP:0004684	Talipes valgus	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare		96
HP:0003028	HP:0004684	Talipes valgus	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare		102
HP:0003028	HP:0011448	Ankle clonus	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent		76
HP:0003028	HP:0011448	Ankle clonus	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	HP:0040283 - Occasional		76
HP:0003028	HP:0011448	Ankle clonus	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0003028	HP:0006466	Ankle flexion contracture	1	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J	.		111
HP:0003028	HP:0006466	Ankle flexion contracture	1	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	HP:0003577 - Congenital onset	61
HP:0003028	HP:0006466	Ankle flexion contracture	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0003028	HP:0010505	Limitation of movement at ankles	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0003028	HP:0001785	Ankle swelling	1	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040282 - Frequent		90
HP:0003028	HP:0004684	Talipes valgus	1	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		10
HP:0003028	HP:0004684	Talipes valgus	1	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		139
HP:0003028	HP:0011448	Ankle clonus	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0003028	HP:0011448	Ankle clonus	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.		30
HP:0003028	HP:0011448	Ankle clonus	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional		43
HP:0003028	HP:0001785	Ankle swelling	1	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040282 - Frequent		37
HP:0003028	HP:0006460	Increased laxity of ankles	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional		270
HP:0003028	HP:0006466	Ankle flexion contracture	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0003028	HP:0004684	Talipes valgus	1	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		54
HP:0003028	HP:0004684	Talipes valgus	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0003028	HP:0011448	Ankle clonus	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0003028	HP:0003029	Enlargement of the ankles	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0003028	HP:0001785	Ankle swelling	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		65
HP:0003028	HP:0001785	Ankle swelling	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0003028	HP:0006466	Ankle flexion contracture	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0003028	HP:0011448	Ankle clonus	1	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.		276
HP:0003028	HP:0011448	Ankle clonus	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040284 - Very rare		93
HP:0003028	HP:0011448	Ankle clonus	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.		93
HP:0003028	HP:0011448	Ankle clonus	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0003028	HP:0006466	Ankle flexion contracture	1	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040281 - Very frequent		3
HP:0003028	HP:0006466	Ankle flexion contracture	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0003028	HP:0004684	Talipes valgus	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0003028	HP:0010505	Limitation of movement at ankles	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0003028	HP:0001785	Ankle swelling	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.		63
HP:0003028	HP:0004684	Talipes valgus	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0003028	HP:0006466	Ankle flexion contracture	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0003028	HP:0010505	Limitation of movement at ankles	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0003028	HP:0006460	Increased laxity of ankles	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent		203
HP:0003028	HP:0006466	Ankle flexion contracture	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0003028	HP:0010505	Limitation of movement at ankles	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional		1269
HP:0003028	HP:0003029	Enlargement of the ankles	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional		1269
HP:0003028	HP:0006466	Ankle flexion contracture	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0003028	HP:0011448	Ankle clonus	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0003028	HP:0006466	Ankle flexion contracture	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040282 - Frequent		745
HP:0003028	HP:0010505	Limitation of movement at ankles	1	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040282 - Frequent		117
HP:0003028	HP:0004684	Talipes valgus	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0003028	HP:0006466	Ankle flexion contracture	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0003028	HP:0006466	Ankle flexion contracture	1	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040281 - Very frequent		15
HP:0003028	HP:0010505	Limitation of movement at ankles	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional		121
HP:0003028	HP:0011448	Ankle clonus	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0003028	HP:0011448	Ankle clonus	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0003028	HP:0006466	Ankle flexion contracture	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0003028	HP:0011448	Ankle clonus	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0003028	HP:0011448	Ankle clonus	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0003028	HP:0006466	Ankle flexion contracture	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional		60
HP:0003028	HP:0011448	Ankle clonus	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0003028	HP:0011448	Ankle clonus	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0003028	HP:0006466	Ankle flexion contracture	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional		27
HP:0003028	HP:0001785	Ankle swelling	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0003028	HP:0001785	Ankle swelling	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		3
HP:0003028	HP:0006460	Increased laxity of ankles	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0003028	HP:0011448	Ankle clonus	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0003028	HP:0004684	Talipes valgus	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.		135
HP:0003028	HP:0011448	Ankle clonus	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.		87
HP:0003028	HP:0006466	Ankle flexion contracture	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent		10
HP:0003028	HP:0011448	Ankle clonus	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.		25
HP:0003028	HP:0006466	Ankle flexion contracture	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0003028	HP:0006466	Ankle flexion contracture	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0003028	HP:0011448	Ankle clonus	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.		4
HP:0003028	HP:0004684	Talipes valgus	1	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		1053
HP:0003028	HP:0004684	Talipes valgus	1	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		126
HP:0003028	HP:0004684	Talipes valgus	1	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		427
HP:0003028	HP:0004684	Talipes valgus	1	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		318
HP:0003028	HP:0006466	Ankle flexion contracture	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0003028	HP:0011448	Ankle clonus	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0003028	HP:0011448	Ankle clonus	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0003028	HP:0006466	Ankle flexion contracture	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0003028	HP:0006466	Ankle flexion contracture	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0003028	HP:0006466	Ankle flexion contracture	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D			132
HP:0003028	HP:0011448	Ankle clonus	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0003028	HP:0006466	Ankle flexion contracture	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0003028	HP:0011448	Ankle clonus	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0003028	HP:0003029	Enlargement of the ankles	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0003028	HP:0011448	Ankle clonus	1	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent		5
HP:0003028	HP:0011448	Ankle clonus	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.		5
HP:0003028	HP:0011448	Ankle clonus	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0003028	HP:0011448	Ankle clonus	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0003028	HP:0011448	Ankle clonus	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0003028	HP:0011448	Ankle clonus	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional		66
HP:0003028	HP:0011448	Ankle clonus	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0003028	HP:0011448	Ankle clonus	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent		208
HP:0003028	HP:0006466	Ankle flexion contracture	1	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X	HP:0040283 - Occasional		287
HP:0003028	HP:0011448	Ankle clonus	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0003028	HP:0006466	Ankle flexion contracture	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0003028	HP:0001785	Ankle swelling	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		2
HP:0003028	HP:0011448	Ankle clonus	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0003028	HP:0011448	Ankle clonus	1	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16	HP:0040283 - Occasional		14
HP:0003028	HP:0004684	Talipes valgus	1	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare		9
HP:0003028	HP:0006466	Ankle flexion contracture	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0003028	HP:0011448	Ankle clonus	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional		1129
HP:0003028	HP:0006466	Ankle flexion contracture	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0003028	HP:0011448	Ankle clonus	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0003028	HP:0006466	Ankle flexion contracture	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y	.		10
HP:0003028	HP:0006466	Ankle flexion contracture	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0003028	HP:0006466	Ankle flexion contracture	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0003028	HP:0006466	Ankle flexion contracture	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0003028	HP:0010505	Limitation of movement at ankles	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional		278
HP:0003028	HP:0011448	Ankle clonus	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.		21
HP:0003028	HP:0006466	Ankle flexion contracture	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0003028	HP:0011448	Ankle clonus	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0003028	HP:0003029	Enlargement of the ankles	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0003028	HP:0011448	Ankle clonus	1	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.		52
HP:0003028	HP:0010505	Limitation of movement at ankles	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0003028	HP:0033526	Limited ankle dorsiflexion	2	CL E G H