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:
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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011448	HP:0011448	Ankle clonus	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0011448	HP:0011448	Ankle clonus	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0011448	HP:0011448	Ankle clonus	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0011448	HP:0011448	Ankle clonus	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0011448	HP:0011448	Ankle clonus	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040282 - Frequent	71
HP:0011448	HP:0011448	Ankle clonus	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040283 - Occasional	36
HP:0011448	HP:0011448	Ankle clonus	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040283 - Occasional	4
HP:0011448	HP:0011448	Ankle clonus	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011448	HP:0011448	Ankle clonus	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0011448	HP:0011448	Ankle clonus	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0011448	HP:0011448	Ankle clonus	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040282 - Frequent	57
HP:0011448	HP:0011448	Ankle clonus	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional	18
HP:0011448	HP:0011448	Ankle clonus	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040283 - Occasional	18
HP:0011448	HP:0011448	Ankle clonus	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent	76
HP:0011448	HP:0011448	Ankle clonus	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	HP:0040283 - Occasional	76
HP:0011448	HP:0011448	Ankle clonus	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0011448	HP:0011448	Ankle clonus	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0011448	HP:0011448	Ankle clonus	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0011448	HP:0011448	Ankle clonus	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0011448	HP:0011448	Ankle clonus	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.	12
HP:0011448	HP:0011448	Ankle clonus	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.	276
HP:0011448	HP:0011448	Ankle clonus	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040284 - Very rare	93
HP:0011448	HP:0011448	Ankle clonus	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0011448	HP:0011448	Ankle clonus	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0011448	HP:0011448	Ankle clonus	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0011448	HP:0011448	Ankle clonus	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0011448	HP:0011448	Ankle clonus	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0011448	HP:0011448	Ankle clonus	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0011448	HP:0011448	Ankle clonus	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0011448	HP:0011448	Ankle clonus	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0011448	HP:0011448	Ankle clonus	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0011448	HP:0011448	Ankle clonus	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0011448	HP:0011448	Ankle clonus	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.	87
HP:0011448	HP:0011448	Ankle clonus	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0011448	HP:0011448	Ankle clonus	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0011448	HP:0011448	Ankle clonus	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0011448	HP:0011448	Ankle clonus	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0011448	HP:0011448	Ankle clonus	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional	57
HP:0011448	HP:0011448	Ankle clonus	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0011448	HP:0011448	Ankle clonus	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0011448	HP:0011448	Ankle clonus	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.	5
HP:0011448	HP:0011448	Ankle clonus	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0011448	HP:0011448	Ankle clonus	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0011448	HP:0011448	Ankle clonus	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0011448	HP:0011448	Ankle clonus	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional	66
HP:0011448	HP:0011448	Ankle clonus	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0011448	HP:0011448	Ankle clonus	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent	208
HP:0011448	HP:0011448	Ankle clonus	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0011448	HP:0011448	Ankle clonus	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0011448	HP:0011448	Ankle clonus	0	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16	HP:0040283 - Occasional	14
HP:0011448	HP:0011448	Ankle clonus	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional	1129
HP:0011448	HP:0011448	Ankle clonus	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent	15
HP:0011448	HP:0011448	Ankle clonus	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0011448	HP:0011448	Ankle clonus	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0011448	HP:0011448	Ankle clonus	0	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.	52

Genes (48) :AARS1 ABCD1 ADGRG1 ANO10 ATL1 ATP6AP2 CAPN1 CARS1 CD40LG CYP27A1 CYP7B1 ERLIN2 FA2H FGF13 GALC GBA2 GFM2 HTT KIF1A KIF5A KLC2 NDUFS8 PEX16 PI4KA PIGT PLA2G6 POU3F4 PSAP RAB18 REEP1 RTN2 SAMD9L SELENOI SLC16A2 SLC1A4 SLC39A14 SLC52A3 SMG9 SOD1 SPART SPAST SPG11 STUB1 SYNE1 TIMM8A UCHL1 VCP ZFYVE27

Diseases (54) :OMIM:619691 ORPHA:139396 OMIM:606854 ORPHA:284289 ORPHA:100984 ORPHA:363654 ORPHA:488594 OMIM:618891 OMIM:308230 OMIM:213700 ORPHA:100986 ORPHA:209951 ORPHA:280384 ORPHA:171629 OMIM:612319 OMIM:301058 ORPHA:206436 OMIM:614409 ORPHA:565624 OMIM:617435 OMIM:610357 ORPHA:100991 OMIM:604187 OMIM:609541 OMIM:618222 OMIM:614877 OMIM:619621 OMIM:615398 OMIM:612953 ORPHA:1435 OMIM:614222 OMIM:610250 OMIM:604805 OMIM:159550 ORPHA:506353 OMIM:618768 ORPHA:59 OMIM:616657 ORPHA:521406 OMIM:617013 OMIM:211530 OMIM:619995 OMIM:618598 ORPHA:101000 OMIM:275900 ORPHA:100985 OMIM:604360 ORPHA:412057 OMIM:615768 ORPHA:88644 ORPHA:52368 OMIM:615491 OMIM:613954 OMIM:610244

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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