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:
Abnormality of the lower limb (HP:0002814)

Grandparent Node:
Areflexia (HP:0001284)

Parent Node:
Areflexia of lower limbs (HP:0002522)

..Starting node
..Decreased/absent ankle reflexes (HP:0200101)

Term ID:

200101

Name:

Decreased/absent ankle reflexes

Synonym:

Decreased or absent ankle reflexes; Decreased/absent ankle reflexes

Definition:

Comments:

Reference:

HP:0200101

Genes and Diseases:

Child Nodes:

........

Absent Achilles reflex (HP:0003438)

Sister Nodes:

Absent patellar reflexes (HP:0006844)

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:0200101	HP:0200101	Decreased/absent ankle reflexes	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43		114
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset		600
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1	.	600
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040283 - Occasional	600
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent	107
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2		203
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body		75
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040282 - Frequent	118
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome		214
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract		163
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4		4
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040282 - Frequent	150
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y		63
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0200101	HP:0200101	Decreased/absent ankle reflexes	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8
HP:0200101	HP:0003438	Absent Achilles reflex	1	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0200101	HP:0003438	Absent Achilles reflex	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040283 - Occasional	89
HP:0200101	HP:0003438	Absent Achilles reflex	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional	89
HP:0200101	HP:0003438	Absent Achilles reflex	1	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive	.	1
HP:0200101	HP:0003438	Absent Achilles reflex	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional	36
HP:0200101	HP:0003438	Absent Achilles reflex	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0200101	HP:0003438	Absent Achilles reflex	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent	114
HP:0200101	HP:0003438	Absent Achilles reflex	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0200101	HP:0003438	Absent Achilles reflex	1	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040283 - Occasional	600
HP:0200101	HP:0003438	Absent Achilles reflex	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0200101	HP:0003438	Absent Achilles reflex	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0200101	HP:0003438	Absent Achilles reflex	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0200101	HP:0003438	Absent Achilles reflex	1	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040283 - Occasional
HP:0200101	HP:0003438	Absent Achilles reflex	1	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0200101	HP:0003438	Absent Achilles reflex	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040282 - Frequent	12
HP:0200101	HP:0003438	Absent Achilles reflex	1	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0200101	HP:0003438	Absent Achilles reflex	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0200101	HP:0003438	Absent Achilles reflex	1	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040283 - Occasional	3
HP:0200101	HP:0003438	Absent Achilles reflex	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040281 - Very frequent	203
HP:0200101	HP:0003438	Absent Achilles reflex	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0200101	HP:0003438	Absent Achilles reflex	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0200101	HP:0003438	Absent Achilles reflex	1	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body	.	75
HP:0200101	HP:0003438	Absent Achilles reflex	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040283 - Occasional	214
HP:0200101	HP:0003438	Absent Achilles reflex	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0200101	HP:0003438	Absent Achilles reflex	1	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040281 - Very frequent	4
HP:0200101	HP:0003438	Absent Achilles reflex	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0200101	HP:0003438	Absent Achilles reflex	1	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4	HP:0040281 - Very frequent	4
HP:0200101	HP:0003438	Absent Achilles reflex	1	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0200101	HP:0003438	Absent Achilles reflex	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	464
HP:0200101	HP:0003438	Absent Achilles reflex	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0200101	HP:0003438	Absent Achilles reflex	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	45
HP:0200101	HP:0003438	Absent Achilles reflex	1	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0200101	HP:0003438	Absent Achilles reflex	1	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0200101	HP:0003438	Absent Achilles reflex	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	125
HP:0200101	HP:0003438	Absent Achilles reflex	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040283 - Occasional	309
HP:0200101	HP:0003438	Absent Achilles reflex	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0200101	HP:0003438	Absent Achilles reflex	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	68
HP:0200101	HP:0003438	Absent Achilles reflex	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0200101	HP:0003438	Absent Achilles reflex	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0200101	HP:0003438	Absent Achilles reflex	1	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0200101	HP:0003438	Absent Achilles reflex	1	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0200101	HP:0003438	Absent Achilles reflex	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	113
HP:0200101	HP:0003438	Absent Achilles reflex	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0200101	HP:0003438	Absent Achilles reflex	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040282 - Frequent	63
HP:0200101	HP:0003438	Absent Achilles reflex	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130
HP:0200101	HP:0003438	Absent Achilles reflex	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8

Genes (44) :AARS1 ALDH18A1 ARL6IP1 ATP6AP2 ATXN3 C19ORF12 CADM3 DYSF GBE1 GJB1 GNE HARS1 HINT1 HSPB3 KLC2 KLHL9 MFN2 MORC2 MRE11 MYOT NEFL OPA1 OPA3 PDK3 PEX10 PGM3 PLEKHG4 PMP2 POLG POLG2 RAB7A RAI1 REEP1 RRM2B SACS SLC25A4 SMN1 SMN2 SQSTM1 TOR1A TWNK VCP VPS13A XK

Diseases (46) :OMIM:613287 ORPHA:447757 ORPHA:447760 OMIM:615685 ORPHA:93952 OMIM:109150 ORPHA:320370 OMIM:619519 ORPHA:178400 OMIM:254130 ORPHA:45448 OMIM:263570 OMIM:302800 ORPHA:1175 ORPHA:602 ORPHA:488333 OMIM:616625 ORPHA:324442 OMIM:613376 OMIM:609541 ORPHA:399081 ORPHA:99947 OMIM:616688 ORPHA:251347 OMIM:182920 ORPHA:99939 ORPHA:1215 ORPHA:67036 ORPHA:352675 OMIM:614871 ORPHA:443811 ORPHA:98765 OMIM:618279 ORPHA:254892 OMIM:607459 OMIM:600882 ORPHA:477817 OMIM:620011 ORPHA:98 OMIM:270550 OMIM:253400 OMIM:617158 OMIM:128100 ORPHA:435387 ORPHA:2388 OMIM:300842

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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