Human Phenotype Ontology

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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:
Abnormal foot morphology (HP:0001760)

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

Parent Node:
Abnormality of the Achilles tendon (HP:0005109)

Parent Node:
Foot joint contracture (HP:0008366)

..Starting node
..Achilles tendon contracture (HP:0001771)

Term ID:

1771

Name:

Achilles tendon contracture

Synonym:

Achilles tendon contractures; Contractures of the Achilles tendon; Shortening of the achilles tendon; Tight achilles tendon

Definition:

A contracture of the Achilles tendon.

Comments:

Reference:

HP:0001771

Genes and Diseases:

Child Nodes:

Sister Nodes:

Flexion contracture of toe (HP:0005830)

Plantar flexion contractures (HP:0008112)

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:0001771	HP:0001771	Achilles tendon contracture	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0001771	HP:0001771	Achilles tendon contracture	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.	50
HP:0001771	HP:0001771	Achilles tendon contracture	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0001771	HP:0001771	Achilles tendon contracture	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0001771	HP:0001771	Achilles tendon contracture	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0001771	HP:0001771	Achilles tendon contracture	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	.	46
HP:0001771	HP:0001771	Achilles tendon contracture	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	65
HP:0001771	HP:0001771	Achilles tendon contracture	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	442
HP:0001771	HP:0001771	Achilles tendon contracture	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	478
HP:0001771	HP:0001771	Achilles tendon contracture	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.	478
HP:0001771	HP:0001771	Achilles tendon contracture	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional	702
HP:0001771	HP:0001771	Achilles tendon contracture	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0001771	HP:0001771	Achilles tendon contracture	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0001771	HP:0001771	Achilles tendon contracture	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.	107
HP:0001771	HP:0001771	Achilles tendon contracture	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	107
HP:0001771	HP:0001771	Achilles tendon contracture	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0001771	HP:0001771	Achilles tendon contracture	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	68
HP:0001771	HP:0001771	Achilles tendon contracture	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	157
HP:0001771	HP:0001771	Achilles tendon contracture	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0001771	HP:0001771	Achilles tendon contracture	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0001771	HP:0001771	Achilles tendon contracture	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	184
HP:0001771	HP:0001771	Achilles tendon contracture	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0001771	HP:0001771	Achilles tendon contracture	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0001771	HP:0001771	Achilles tendon contracture	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0001771	HP:0001771	Achilles tendon contracture	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0001771	HP:0001771	Achilles tendon contracture	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0001771	HP:0001771	Achilles tendon contracture	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0001771	HP:0001771	Achilles tendon contracture	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0001771	HP:0001771	Achilles tendon contracture	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0001771	HP:0001771	Achilles tendon contracture	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0001771	HP:0001771	Achilles tendon contracture	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0001771	HP:0001771	Achilles tendon contracture	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0001771	HP:0001771	Achilles tendon contracture	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.	75
HP:0001771	HP:0001771	Achilles tendon contracture	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0001771	HP:0001771	Achilles tendon contracture	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	HP:0040283 - Occasional	84
HP:0001771	HP:0001771	Achilles tendon contracture	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.	214
HP:0001771	HP:0001771	Achilles tendon contracture	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional	759
HP:0001771	HP:0001771	Achilles tendon contracture	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	213
HP:0001771	HP:0001771	Achilles tendon contracture	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent	6
HP:0001771	HP:0001771	Achilles tendon contracture	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0001771	HP:0001771	Achilles tendon contracture	0	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	HP:0040282 - Frequent	132
HP:0001771	HP:0001771	Achilles tendon contracture	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040283 - Occasional	83
HP:0001771	HP:0001771	Achilles tendon contracture	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0001771	HP:0001771	Achilles tendon contracture	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0001771	HP:0001771	Achilles tendon contracture	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0001771	HP:0001771	Achilles tendon contracture	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0001771	HP:0001771	Achilles tendon contracture	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0001771	HP:0001771	Achilles tendon contracture	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0001771	HP:0001771	Achilles tendon contracture	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040284 - Very rare
HP:0001771	HP:0001771	Achilles tendon contracture	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0001771	HP:0001771	Achilles tendon contracture	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19

Genes (44) :ABCC9 ABHD12 ACTA1 ADAT3 ALS2 BICD2 COL12A1 COL6A1 COL6A2 COL6A3 CRPPA DMD EMD FHL1 FKRP FKTN GJB1 GNS HINT1 HRAS JAG2 KY LARGE1 LMNA LMX1B MYOT NGLY1 NSUN2 OPA1 PLEC POMT1 PTRH2 PYROXD1 SGCA SGCG SLC12A6 SLC25A4 SLC39A14 SYNE1 SYNE2 TMEM43 TRNE TTN ZC4H2

Diseases (41) :OMIM:619719 OMIM:612674 OMIM:616852 ORPHA:363528 OMIM:607225 OMIM:615290 ORPHA:610 OMIM:255600 ORPHA:370980 OMIM:310200 OMIM:310300 ORPHA:98863 OMIM:300696 OMIM:606612 OMIM:607155 OMIM:302800 OMIM:252940 ORPHA:324442 OMIM:218040 OMIM:619566 OMIM:617114 OMIM:608840 ORPHA:98853 ORPHA:98855 OMIM:181350 ORPHA:2614 OMIM:609200 ORPHA:404454 OMIM:611091 OMIM:210000 ORPHA:254361 ORPHA:456312 OMIM:617258 ORPHA:62 ORPHA:353 OMIM:620068 OMIM:615418 OMIM:617013 ORPHA:2596 OMIM:603689 OMIM:301041

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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