Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Limb joint contracture (HP:0003121)

Parent Node:
Abnormality of the ankles (HP:0003028)

Parent Node:
Lower-limb joint contracture (HP:0005750)

..Starting node
..Ankle flexion contracture (HP:0006466)

Term ID:

6466

Name:

Ankle flexion contracture

Synonym:

Ankle contracture; Ankle contractures; Contractures of the ankles

Definition:

A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.

Comments:

Reference:

HP:0006466

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adductor longus contractures (HP:0006366)

Congenital foot contractures (HP:0005745)

Foot joint contracture (HP:0008366)

Hamstring contractures (HP:0003089)

Hip contracture (HP:0003273)

Knee flexion contracture (HP:0006380)

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:0006466	HP:0006466	Ankle flexion contracture	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0006466	HP:0006466	Ankle flexion contracture	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional		62
HP:0006466	HP:0006466	Ankle flexion contracture	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional		304
HP:0006466	HP:0006466	Ankle flexion contracture	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0006466	HP:0006466	Ankle flexion contracture	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0006466	HP:0006466	Ankle flexion contracture	0	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0006466	HP:0006466	Ankle flexion contracture	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent		114
HP:0006466	HP:0006466	Ankle flexion contracture	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.		114
HP:0006466	HP:0006466	Ankle flexion contracture	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent		323
HP:0006466	HP:0006466	Ankle flexion contracture	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		65
HP:0006466	HP:0006466	Ankle flexion contracture	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0006466	HP:0006466	Ankle flexion contracture	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent		3
HP:0006466	HP:0006466	Ankle flexion contracture	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		442
HP:0006466	HP:0006466	Ankle flexion contracture	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.		442
HP:0006466	HP:0006466	Ankle flexion contracture	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		478
HP:0006466	HP:0006466	Ankle flexion contracture	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.		478
HP:0006466	HP:0006466	Ankle flexion contracture	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		702
HP:0006466	HP:0006466	Ankle flexion contracture	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.		702
HP:0006466	HP:0006466	Ankle flexion contracture	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040283 - Occasional		108
HP:0006466	HP:0006466	Ankle flexion contracture	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.		108
HP:0006466	HP:0006466	Ankle flexion contracture	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0006466	HP:0006466	Ankle flexion contracture	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0006466	HP:0006466	Ankle flexion contracture	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0006466	HP:0006466	Ankle flexion contracture	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0006466	HP:0006466	Ankle flexion contracture	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent		18
HP:0006466	HP:0006466	Ankle flexion contracture	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040282 - Frequent		18
HP:0006466	HP:0006466	Ankle flexion contracture	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0006466	HP:0006466	Ankle flexion contracture	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J	.		111
HP:0006466	HP:0006466	Ankle flexion contracture	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	HP:0003577 - Congenital onset	61
HP:0006466	HP:0006466	Ankle flexion contracture	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0006466	HP:0006466	Ankle flexion contracture	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0006466	HP:0006466	Ankle flexion contracture	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0006466	HP:0006466	Ankle flexion contracture	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040281 - Very frequent		3
HP:0006466	HP:0006466	Ankle flexion contracture	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0006466	HP:0006466	Ankle flexion contracture	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0006466	HP:0006466	Ankle flexion contracture	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0006466	HP:0006466	Ankle flexion contracture	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0006466	HP:0006466	Ankle flexion contracture	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040282 - Frequent		745
HP:0006466	HP:0006466	Ankle flexion contracture	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0006466	HP:0006466	Ankle flexion contracture	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040281 - Very frequent		15
HP:0006466	HP:0006466	Ankle flexion contracture	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0006466	HP:0006466	Ankle flexion contracture	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional		60
HP:0006466	HP:0006466	Ankle flexion contracture	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional		27
HP:0006466	HP:0006466	Ankle flexion contracture	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent		10
HP:0006466	HP:0006466	Ankle flexion contracture	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0006466	HP:0006466	Ankle flexion contracture	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0006466	HP:0006466	Ankle flexion contracture	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0006466	HP:0006466	Ankle flexion contracture	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0006466	HP:0006466	Ankle flexion contracture	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0006466	HP:0006466	Ankle flexion contracture	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D			132
HP:0006466	HP:0006466	Ankle flexion contracture	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0006466	HP:0006466	Ankle flexion contracture	0	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X	HP:0040283 - Occasional		287
HP:0006466	HP:0006466	Ankle flexion contracture	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0006466	HP:0006466	Ankle flexion contracture	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0006466	HP:0006466	Ankle flexion contracture	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0006466	HP:0006466	Ankle flexion contracture	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y	.		10
HP:0006466	HP:0006466	Ankle flexion contracture	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0006466	HP:0006466	Ankle flexion contracture	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0006466	HP:0006466	Ankle flexion contracture	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0006466	HP:0006466	Ankle flexion contracture	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy

Genes (53) :ACTA1 ALAD ANO5 APC2 ATP5F1D C18ORF32 C19ORF12 CAPN3 COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 DAG1 DDR2 DPM1 DYRK1A ERGIC1 ERLIN2 ESCO2 FIG4 FKBP10 FLNA HACD1 ITGA7 KLHL9 LGI4 MAP3K20 MMP2 MYL2 NEB NSD1 NT5C2 PI4KA PNPT1 PSAT1 RPL10 RTTN RYR1 SCYL2 SELENON SETD2 SGCA SLC1A4 SPG11 SPTBN4 SVIL SYT2 TOR1AIP1 TPM2 TPM3 UBA1 VARS1

Diseases (44) :ORPHA:2020 ORPHA:100924 ORPHA:206549 ORPHA:821 OMIM:618120 OMIM:619985 ORPHA:320370 OMIM:615043 ORPHA:267 ORPHA:610 ORPHA:536516 ORPHA:1143 OMIM:158810 ORPHA:280333 OMIM:613818 OMIM:618175 OMIM:608799 ORPHA:464311 ORPHA:209951 ORPHA:280384 OMIM:268300 OMIM:611228 OMIM:259450 OMIM:305620 ORPHA:399081 OMIM:617468 OMIM:259600 ORPHA:399103 ORPHA:320396 OMIM:619621 ORPHA:319514 ORPHA:284417 ORPHA:435938 ORPHA:468631 OMIM:117000 OMIM:608099 OMIM:616657 OMIM:616668 OMIM:617519 OMIM:619040 OMIM:619461 OMIM:617072 ORPHA:1145 OMIM:617802

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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