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:
Hyperreflexia (HP:0001347)

Grandparent Node:
Involuntary movements (HP:0004305)

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

Parent Node:
Abnormality of the knee (HP:0002815)

Parent Node:
Clonus (HP:0002169)

..Starting node
..Ankle clonus (HP:0011448)

Term ID:

11448

Name:

Ankle clonus

Synonym:

Abnormal rhythmic movements of ankle

Definition:

Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.

Comments:

Reference:

HP:0011448

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elbow clonus (HP:0011728)

Knee clonus (HP:0011449)

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:0011448	HP:0011448	Ankle clonus	0	ADGRG1 CL E G H	9289	606854	Polymicrogyria, bilateral frontoparietal	606854	C1847352	OMIM	1	625	4512	604110
HP:0011448	HP:0011448	Ankle clonus	0	ANO10 CL E G H	55129	284289				ORPHA	1	240	25519	613726
HP:0011448	HP:0011448	Ankle clonus	0	ATL1 CL E G H	51062	100984				ORPHA	1	408	11231	606439
HP:0011448	HP:0011448	Ankle clonus	0	CYP7B1 CL E G H	9420	100986				ORPHA	1	333	2652	603711
HP:0011448	HP:0011448	Ankle clonus	0	FA2H CL E G H	79152	171629				ORPHA	1	312	21197	611026
HP:0011448	HP:0011448	Ankle clonus	0	GBA2 CL E G H	57704	614409	Spastic paraplegia 46, autosomal recessive	614409	C2828721	OMIM	1	277	18986	609471
HP:0011448	HP:0011448	Ankle clonus	0	HTT CL E G H	3064	617435	Lopes-Maciel-Rodan syndrome	617435	C4479491	OMIM	1	735	4851	613004
HP:0011448	HP:0011448	Ankle clonus	0	KIF1A CL E G H	547	610357	Spastic paraplegia 30, autosomal recessive	610357	C1835896	OMIM	1	2132	888	601255
HP:0011448	HP:0011448	Ankle clonus	0	KIF5A CL E G H	3798	604187	Spastic paraplegia 10	604187	C1858712	OMIM	1	744	6323	602821
HP:0011448	HP:0011448	Ankle clonus	0	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	161	14938	610272
HP:0011448	HP:0011448	Ankle clonus	0	RAB18 CL E G H	22931	614222	Warburg micro syndrome 3	614222	C3280203	OMIM	1	180	14244	602207
HP:0011448	HP:0011448	Ankle clonus	0	REEP1 CL E G H	65055	610250	Spastic paraplegia 31, autosomal dominant	610250	C1853247	OMIM	1	377	25786	609139
HP:0011448	HP:0011448	Ankle clonus	0	RTN2 CL E G H	6253	604805	Spastic paraplegia 12	604805	C1858106	OMIM	1	184	10468	603183
HP:0011448	HP:0011448	Ankle clonus	0	SAMD9L CL E G H	219285	159550	Myelocerebellar disorder	159550	C1327919	OMIM	1	379	1349	611170
HP:0011448	HP:0011448	Ankle clonus	0	SLC39A14 CL E G H	23516	617013	Hypermanganesemia with dystonia 2	617013	C4310765	OMIM	1	176	20858	608736
HP:0011448	HP:0011448	Ankle clonus	0	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	399	16187	613350
HP:0011448	HP:0011448	Ankle clonus	0	SPART CL E G H	23111	275900	Troyer syndrome	275900	C0393559	OMIM	1	274	18514	607111
HP:0011448	HP:0011448	Ankle clonus	0	SPAST CL E G H	6683	100985				ORPHA	1	1014	11233	604277
HP:0011448	HP:0011448	Ankle clonus	0	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	2165	11226	610844
HP:0011448	HP:0011448	Ankle clonus	0	UCHL1 CL E G H	7345	615491	Spastic paraplegia 79, autosomal recessive	615491	C3809665	OMIM	1	111	12513	191342
HP:0011448	HP:0011448	Ankle clonus	0	ZFYVE27 CL E G H	118813	610244	Spastic paraplegia 33, autosomal dominant	610244	C1853251	OMIM	1	154	26559	610243
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011448	HP:0011448	Ankle clonus	0	ATP6AP2 CL E G H	10159	363654				ORPHA	0	303	18305	300556
HP:0011448	HP:0011448	Ankle clonus	0	CAPN1 CL E G H	823	488594				ORPHA	0	124	1476	114220
HP:0011448	HP:0011448	Ankle clonus	0	FA2H CL E G H	79152	612319	Spastic paraplegia 35	612319	C3668943	OMIM	0	312	21197	611026
HP:0011448	HP:0011448	Ankle clonus	0	SPART CL E G H	23111	101000				ORPHA	0	274	18514	607111
HP:0011448	HP:0011448	Ankle clonus	0	STUB1 CL E G H	10273	412057				ORPHA	0	170	11427	607207
HP:0011448	HP:0011448	Ankle clonus	0	STUB1 CL E G H	10273	615768	Spinocerebellar ataxia, autosomal recessive 16	615768	C4014261	OMIM	0	170	11427	607207

Genes (24) :ADGRG1 ANO10 ATL1 ATP6AP2 CAPN1 CYP7B1 FA2H GBA2 HTT KIF1A KIF5A PIGT RAB18 REEP1 RTN2 SAMD9L SLC39A14 SLC52A3 SPART SPAST SPG11 STUB1 UCHL1 ZFYVE27

Diseases (27) :606854 284289 100984 363654 488594 100986 171629 612319 614409 617435 610357 604187 615398 614222 610250 604805 159550 617013 211530 101000 275900 100985 604360 412057 615768 615491 610244

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

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