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:
Contractures of the joints of the lower limbs (HP:0005750)

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

Parent Node:
Contractures involving the joints of the feet (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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001771	HP:0001771	Achilles tendon contracture	0	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	430	15868	613599
HP:0001771	HP:0001771	Achilles tendon contracture	0	ACTA1 CL E G H	58	616852	Myopathy, scapulohumeroperoneal	616852	C4225181	OMIM	1	392	129	102610
HP:0001771	HP:0001771	Achilles tendon contracture	0	ALS2 CL E G H	57679	607225	Infantile-onset ascending hereditary spastic paralysis	607225	C2931441	OMIM	1	754	443	606352
HP:0001771	HP:0001771	Achilles tendon contracture	0	BICD2 CL E G H	23299	615290	Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant	615290	C3809049	OMIM	1	590	17208	609797
HP:0001771	HP:0001771	Achilles tendon contracture	0	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	1644	2212	120240
HP:0001771	HP:0001771	Achilles tendon contracture	0	EMD CL E G H	2010	310300	Emery-Dreifuss muscular dystrophy 1, X-linked	310300	C0751337	OMIM	1	618	3331	300384
HP:0001771	HP:0001771	Achilles tendon contracture	0	FKRP CL E G H	79147	370980				ORPHA	1	787	17997	606596
HP:0001771	HP:0001771	Achilles tendon contracture	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0001771	HP:0001771	Achilles tendon contracture	0	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0001771	HP:0001771	Achilles tendon contracture	0	FKTN CL E G H	2218	370980				ORPHA	1	783	3622	607440
HP:0001771	HP:0001771	Achilles tendon contracture	0	GJB1 CL E G H	2705	302800	X-linked hereditary motor and sensory neuropathy	302800	C0393808	OMIM	1	797	4283	304040
HP:0001771	HP:0001771	Achilles tendon contracture	0	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	547	5173	190020
HP:0001771	HP:0001771	Achilles tendon contracture	0	ISPD CL E G H	729920	370980				ORPHA	1	647	37276	614631
HP:0001771	HP:0001771	Achilles tendon contracture	0	KY CL E G H	339855	617114	Myopathy, myofibrillar, 7	617114	C4310711	OMIM	1	87	26576	605739
HP:0001771	HP:0001771	Achilles tendon contracture	0	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	658	6511	603590
HP:0001771	HP:0001771	Achilles tendon contracture	0	LMNA CL E G H	4000	98853				ORPHA	1	1622	6636	150330
HP:0001771	HP:0001771	Achilles tendon contracture	0	LMNA CL E G H	4000	98855				ORPHA	1	1622	6636	150330
HP:0001771	HP:0001771	Achilles tendon contracture	0	LMNA CL E G H	4000	181350	Benign scapuloperoneal muscular dystrophy with cardiomyopathy	181350	C0410190	OMIM	1	1622	6636	150330
HP:0001771	HP:0001771	Achilles tendon contracture	0	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	295	12399	604103
HP:0001771	HP:0001771	Achilles tendon contracture	0	OPA1 CL E G H	4976	210000	Abortive cerebellar ataxia	210000	C0221061	OMIM	1	885	8140	605290
HP:0001771	HP:0001771	Achilles tendon contracture	0	POMT1 CL E G H	10585	370980				ORPHA	1	737	9202	607423
HP:0001771	HP:0001771	Achilles tendon contracture	0	SGCA CL E G H	6442	62	COG4 related congenital disorder of glycosylation, autosomal dominant			ORPHA	1	537	10805	600119
HP:0001771	HP:0001771	Achilles tendon contracture	0	SYNE1 CL E G H	23345	98853				ORPHA	1	4598	17089	608441
HP:0001771	HP:0001771	Achilles tendon contracture	0	SYNE2 CL E G H	23224	98853				ORPHA	1	2497	17084	608442
HP:0001771	HP:0001771	Achilles tendon contracture	0	TMEM43 CL E G H	79188	98853				ORPHA	1	740	28472	612048
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001771	HP:0001771	Achilles tendon contracture	0	EMD CL E G H	2010	98863				ORPHA	0	618	3331	300384
HP:0001771	HP:0001771	Achilles tendon contracture	0	FHL1 CL E G H	2273	98863				ORPHA	0	517	3702	300163
HP:0001771	HP:0001771	Achilles tendon contracture	0	HINT1 CL E G H	3094	324442				ORPHA	0	130	4912	601314
HP:0001771	HP:0001771	Achilles tendon contracture	0	LMNA CL E G H	4000	264				ORPHA	0	1622	6636	150330
HP:0001771	HP:0001771	Achilles tendon contracture	0	MT-TE CL E G H	4556	2596	Hantavirosis			ORPHA	0		7479	590025
HP:0001771	HP:0001771	Achilles tendon contracture	0	NSUN2 CL E G H	54888	611091	Mental retardation, autosomal recessive 5	611091	C1970199	OMIM	0	443	25994	610916
HP:0001771	HP:0001771	Achilles tendon contracture	0	PLEC CL E G H	5339	254361				ORPHA	0	4152	9069	601282
HP:0001771	HP:0001771	Achilles tendon contracture	0	SGCG CL E G H	6445	353	Kozlowski Warren Fisher syndrome			ORPHA	0	484	10809	608896

Genes (28) :ABHD12 ACTA1 ALS2 BICD2 COL6A2 CRPPA EMD FHL1 FKRP FKTN GJB1 HINT1 HRAS ISPD KY LARGE1 LMNA MYOT NSUN2 OPA1 PLEC POMT1 SGCA SGCG SYNE1 SYNE2 TMEM43 TRNE

Diseases (26) :612674 616852 607225 615290 255600 370980 98863 310300 606612 607155 302800 324442 218040 617114 608840 264 98855 98853 181350 609200 611091 210000 254361 62 353 2596

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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