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 reflex (HP:0031826)

Parent Node:
Reduced tendon reflexes (HP:0001315)

..Starting node
..Areflexia (HP:0001284)

Term ID:

1284

Name:

Areflexia

Synonym:

Absent deep tendon reflexes; Absent reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes

Definition:

Absence of neurologic reflexes such as the knee-jerk reaction.

Comments:

Reference:

HP:0001284

Genes and Diseases:

Child Nodes:

........

Areflexia of lower limbs (HP:0002522)

................... HP:0006844 Absent patellar reflexes
................... HP:0200101 Decreased/absent ankle reflexes

........

Areflexia of upper limbs (HP:0012046)

........

Hemiareflexia (HP:0031004)

Sister Nodes:

Hyporeflexia (HP:0001265)

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:0001284	HP:0001284	Areflexia	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N	.
HP:0001284	HP:0001284	Areflexia	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0001284	HP:0001284	Areflexia	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0001284	HP:0001284	Areflexia	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0001284	HP:0001284	Areflexia	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0001284	HP:0001284	Areflexia	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0001284	HP:0001284	Areflexia	0	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH		120
HP:0001284	HP:0001284	Areflexia	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0001284	HP:0001284	Areflexia	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	96
HP:0001284	HP:0001284	Areflexia	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	96
HP:0001284	HP:0001284	Areflexia	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal	.	96
HP:0001284	HP:0001284	Areflexia	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0001284	HP:0001284	Areflexia	0	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8	.	2
HP:0001284	HP:0001284	Areflexia	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0001284	HP:0001284	Areflexia	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0001284	HP:0001284	Areflexia	0	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5	.	60
HP:0001284	HP:0001284	Areflexia	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040281 - Very frequent	60
HP:0001284	HP:0001284	Areflexia	0	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4	HP:0040281 - Very frequent	60
HP:0001284	HP:0001284	Areflexia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0001284	HP:0001284	Areflexia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0001284	HP:0001284	Areflexia	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0001284	HP:0001284	Areflexia	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.	58
HP:0001284	HP:0001284	Areflexia	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	12
HP:0001284	HP:0001284	Areflexia	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	46
HP:0001284	HP:0001284	Areflexia	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.	66
HP:0001284	HP:0001284	Areflexia	0	AMPD1 CL E G H	270	468	OMIM:615511	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD		62
HP:0001284	HP:0001284	Areflexia	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0001284	HP:0001284	Areflexia	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.	61
HP:0001284	HP:0001284	Areflexia	0	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0001284	HP:0001284	Areflexia	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66	HP:0040282 - Frequent	1
HP:0001284	HP:0001284	Areflexia	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0001284	HP:0001284	Areflexia	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0001284	HP:0001284	Areflexia	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001284	HP:0001284	Areflexia	0	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD	.	4
HP:0001284	HP:0001284	Areflexia	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0001284	HP:0001284	Areflexia	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0001284	HP:0001284	Areflexia	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.	150
HP:0001284	HP:0001284	Areflexia	0	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	HP:0040281 - Very frequent	150
HP:0001284	HP:0001284	Areflexia	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0001284	HP:0001284	Areflexia	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0001284	HP:0001284	Areflexia	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0001284	HP:0001284	Areflexia	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	43
HP:0001284	HP:0001284	Areflexia	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	17
HP:0001284	HP:0001284	Areflexia	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	.	46
HP:0001284	HP:0001284	Areflexia	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0001284	HP:0001284	Areflexia	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0001284	HP:0001284	Areflexia	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.	99
HP:0001284	HP:0001284	Areflexia	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43		114
HP:0001284	HP:0001284	Areflexia	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0001284	HP:0001284	Areflexia	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0001284	HP:0001284	Areflexia	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.	35
HP:0001284	HP:0001284	Areflexia	0	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy	.	3
HP:0001284	HP:0001284	Areflexia	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.	3
HP:0001284	HP:0001284	Areflexia	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7	.	35
HP:0001284	HP:0001284	Areflexia	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	65
HP:0001284	HP:0001284	Areflexia	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.	11
HP:0001284	HP:0001284	Areflexia	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent	11
HP:0001284	HP:0001284	Areflexia	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	.	11
HP:0001284	HP:0001284	Areflexia	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001284	HP:0001284	Areflexia	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0001284	HP:0001284	Areflexia	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.	9
HP:0001284	HP:0001284	Areflexia	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0001284	HP:0001284	Areflexia	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0001284	HP:0001284	Areflexia	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0001284	HP:0001284	Areflexia	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0001284	HP:0001284	Areflexia	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0001284	HP:0001284	Areflexia	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent	3
HP:0001284	HP:0001284	Areflexia	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	193
HP:0001284	HP:0001284	Areflexia	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional	90
HP:0001284	HP:0001284	Areflexia	0	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D	.	4
HP:0001284	HP:0001284	Areflexia	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0001284	HP:0001284	Areflexia	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0001284	HP:0001284	Areflexia	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	108
HP:0001284	HP:0001284	Areflexia	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.	2
HP:0001284	HP:0001284	Areflexia	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy		263
HP:0001284	HP:0001284	Areflexia	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001284	HP:0001284	Areflexia	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0001284	HP:0001284	Areflexia	0	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5	.	30
HP:0001284	HP:0001284	Areflexia	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	.	3
HP:0001284	HP:0001284	Areflexia	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome		3
HP:0001284	HP:0001284	Areflexia	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	94
HP:0001284	HP:0001284	Areflexia	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.	94
HP:0001284	HP:0001284	Areflexia	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0001284	HP:0001284	Areflexia	0	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	.	167
HP:0001284	HP:0001284	Areflexia	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.	167
HP:0001284	HP:0001284	Areflexia	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0001284	HP:0001284	Areflexia	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	38
HP:0001284	HP:0001284	Areflexia	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0001284	HP:0001284	Areflexia	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.	108
HP:0001284	HP:0001284	Areflexia	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset		600
HP:0001284	HP:0001284	Areflexia	0	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1		600
HP:0001284	HP:0001284	Areflexia	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy		600
HP:0001284	HP:0001284	Areflexia	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	58
HP:0001284	HP:0001284	Areflexia	0	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	.	58
HP:0001284	HP:0001284	Areflexia	0	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64	HP:0040283 - Occasional	3
HP:0001284	HP:0001284	Areflexia	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	.	12
HP:0001284	HP:0001284	Areflexia	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	199
HP:0001284	HP:0001284	Areflexia	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199
HP:0001284	HP:0001284	Areflexia	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	55
HP:0001284	HP:0001284	Areflexia	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0001284	HP:0001284	Areflexia	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040283 - Occasional	2
HP:0001284	HP:0001284	Areflexia	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive		2
HP:0001284	HP:0001284	Areflexia	0	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0001284	HP:0001284	Areflexia	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001284	HP:0001284	Areflexia	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0001284	HP:0001284	Areflexia	0	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.	68
HP:0001284	HP:0001284	Areflexia	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J	.	111
HP:0001284	HP:0001284	Areflexia	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	157
HP:0001284	HP:0001284	Areflexia	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0001284	HP:0001284	Areflexia	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	184
HP:0001284	HP:0001284	Areflexia	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0001284	HP:0001284	Areflexia	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional	111
HP:0001284	HP:0001284	Areflexia	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0001284	HP:0001284	Areflexia	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0001284	HP:0001284	Areflexia	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001284	HP:0001284	Areflexia	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001284	HP:0001284	Areflexia	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent	407
HP:0001284	HP:0001284	Areflexia	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.	407
HP:0001284	HP:0001284	Areflexia	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040281 - Very frequent	121
HP:0001284	HP:0001284	Areflexia	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0001284	HP:0001284	Areflexia	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001284	HP:0001284	Areflexia	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0001284	HP:0001284	Areflexia	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0001284	HP:0001284	Areflexia	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0001284	HP:0001284	Areflexia	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0001284	HP:0001284	Areflexia	0	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.	108
HP:0001284	HP:0001284	Areflexia	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive	.	108
HP:0001284	HP:0001284	Areflexia	0	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.	108
HP:0001284	HP:0001284	Areflexia	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.	108
HP:0001284	HP:0001284	Areflexia	0	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0001284	HP:0001284	Areflexia	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	128
HP:0001284	HP:0001284	Areflexia	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0001284	HP:0001284	Areflexia	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0001284	HP:0001284	Areflexia	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040281 - Very frequent	107
HP:0001284	HP:0001284	Areflexia	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia		107
HP:0001284	HP:0001284	Areflexia	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0001284	HP:0001284	Areflexia	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	34
HP:0001284	HP:0001284	Areflexia	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0001284	HP:0001284	Areflexia	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6	.	88
HP:0001284	HP:0001284	Areflexia	0	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0001284	HP:0001284	Areflexia	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0001284	HP:0001284	Areflexia	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040281 - Very frequent	99
HP:0001284	HP:0001284	Areflexia	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0001284	HP:0001284	Areflexia	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0001284	HP:0001284	Areflexia	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040281 - Very frequent	60
HP:0001284	HP:0001284	Areflexia	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0001284	HP:0001284	Areflexia	0	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0001284	HP:0001284	Areflexia	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0001284	HP:0001284	Areflexia	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040281 - Very frequent	11
HP:0001284	HP:0001284	Areflexia	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0001284	HP:0001284	Areflexia	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0001284	HP:0001284	Areflexia	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	HP:0040283 - Occasional	98
HP:0001284	HP:0001284	Areflexia	0	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F	.	47
HP:0001284	HP:0001284	Areflexia	0	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB		47
HP:0001284	HP:0001284	Areflexia	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0001284	HP:0001284	Areflexia	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L	.	38
HP:0001284	HP:0001284	Areflexia	0	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA		38
HP:0001284	HP:0001284	Areflexia	0	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.	16
HP:0001284	HP:0001284	Areflexia	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040281 - Very frequent	1
HP:0001284	HP:0001284	Areflexia	0	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S	.	209
HP:0001284	HP:0001284	Areflexia	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.	135
HP:0001284	HP:0001284	Areflexia	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040283 - Occasional	7
HP:0001284	HP:0001284	Areflexia	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0001284	HP:0001284	Areflexia	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	127
HP:0001284	HP:0001284	Areflexia	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0001284	HP:0001284	Areflexia	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0001284	HP:0001284	Areflexia	0	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.	1
HP:0001284	HP:0001284	Areflexia	0	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B	.
HP:0001284	HP:0001284	Areflexia	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0001284	HP:0001284	Areflexia	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0001284	HP:0001284	Areflexia	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional	4
HP:0001284	HP:0001284	Areflexia	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0001284	HP:0001284	Areflexia	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC	.	276
HP:0001284	HP:0001284	Areflexia	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.	202
HP:0001284	HP:0001284	Areflexia	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0001284	HP:0001284	Areflexia	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0001284	HP:0001284	Areflexia	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	13
HP:0001284	HP:0001284	Areflexia	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0001284	HP:0001284	Areflexia	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient	.	411
HP:0001284	HP:0001284	Areflexia	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0001284	HP:0001284	Areflexia	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.	92
HP:0001284	HP:0001284	Areflexia	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional	92
HP:0001284	HP:0001284	Areflexia	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6	.	136
HP:0001284	HP:0001284	Areflexia	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	136
HP:0001284	HP:0001284	Areflexia	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.	6
HP:0001284	HP:0001284	Areflexia	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome		144
HP:0001284	HP:0001284	Areflexia	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0001284	HP:0001284	Areflexia	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001284	HP:0001284	Areflexia	0	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.	645
HP:0001284	HP:0001284	Areflexia	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent	.	95
HP:0001284	HP:0001284	Areflexia	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0001284	HP:0001284	Areflexia	0	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	.	102
HP:0001284	HP:0001284	Areflexia	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0001284	HP:0001284	Areflexia	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0001284	HP:0001284	Areflexia	0	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U	.
HP:0001284	HP:0001284	Areflexia	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	.	3
HP:0001284	HP:0001284	Areflexia	0	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2	.	43
HP:0001284	HP:0001284	Areflexia	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.	158
HP:0001284	HP:0001284	Areflexia	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2		203
HP:0001284	HP:0001284	Areflexia	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.	203
HP:0001284	HP:0001284	Areflexia	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0001284	HP:0001284	Areflexia	0	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T	.	18
HP:0001284	HP:0001284	Areflexia	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent	18
HP:0001284	HP:0001284	Areflexia	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	.	8
HP:0001284	HP:0001284	Areflexia	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN		8
HP:0001284	HP:0001284	Areflexia	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE	.	56
HP:0001284	HP:0001284	Areflexia	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0001284	HP:0001284	Areflexia	0	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B	HP:0040282 - Frequent	134
HP:0001284	HP:0001284	Areflexia	0	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I	.	134
HP:0001284	HP:0001284	Areflexia	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.	134
HP:0001284	HP:0001284	Areflexia	0	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D	.	134
HP:0001284	HP:0001284	Areflexia	0	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J		134
HP:0001284	HP:0001284	Areflexia	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	134
HP:0001284	HP:0001284	Areflexia	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.	134
HP:0001284	HP:0001284	Areflexia	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	134
HP:0001284	HP:0001284	Areflexia	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0001284	HP:0001284	Areflexia	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0001284	HP:0001284	Areflexia	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.	185
HP:0001284	HP:0001284	Areflexia	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0001284	HP:0001284	Areflexia	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0001284	HP:0001284	Areflexia	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0001284	HP:0001284	Areflexia	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0001284	HP:0001284	Areflexia	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0001284	HP:0001284	Areflexia	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0001284	HP:0001284	Areflexia	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	.	227
HP:0001284	HP:0001284	Areflexia	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040283 - Occasional	227
HP:0001284	HP:0001284	Areflexia	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0001284	HP:0001284	Areflexia	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	131
HP:0001284	HP:0001284	Areflexia	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0001284	HP:0001284	Areflexia	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0001284	HP:0001284	Areflexia	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body		75
HP:0001284	HP:0001284	Areflexia	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.	75
HP:0001284	HP:0001284	Areflexia	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0001284	HP:0001284	Areflexia	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0001284	HP:0001284	Areflexia	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.	82
HP:0001284	HP:0001284	Areflexia	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0001284	HP:0001284	Areflexia	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	745
HP:0001284	HP:0001284	Areflexia	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0001284	HP:0001284	Areflexia	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E		118
HP:0001284	HP:0001284	Areflexia	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0001284	HP:0001284	Areflexia	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	.	118
HP:0001284	HP:0001284	Areflexia	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.	118
HP:0001284	HP:0001284	Areflexia	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.	118
HP:0001284	HP:0001284	Areflexia	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0001284	HP:0001284	Areflexia	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0001284	HP:0001284	Areflexia	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent	88
HP:0001284	HP:0001284	Areflexia	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome		214
HP:0001284	HP:0001284	Areflexia	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	214
HP:0001284	HP:0001284	Areflexia	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040282 - Frequent	163
HP:0001284	HP:0001284	Areflexia	0	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2		19
HP:0001284	HP:0001284	Areflexia	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001284	HP:0001284	Areflexia	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0001284	HP:0001284	Areflexia	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.	40
HP:0001284	HP:0001284	Areflexia	0	PDXK CL E G H	8566	8819	OMIM:618511	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy	.
HP:0001284	HP:0001284	Areflexia	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0001284	HP:0001284	Areflexia	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0001284	HP:0001284	Areflexia	0	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B	.	4
HP:0001284	HP:0001284	Areflexia	0	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)	.	65
HP:0001284	HP:0001284	Areflexia	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0001284	HP:0001284	Areflexia	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.	47
HP:0001284	HP:0001284	Areflexia	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0001284	HP:0001284	Areflexia	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001284	HP:0001284	Areflexia	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0001284	HP:0001284	Areflexia	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001284	HP:0001284	Areflexia	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.	11
HP:0001284	HP:0001284	Areflexia	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040281 - Very frequent	11
HP:0001284	HP:0001284	Areflexia	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A		133
HP:0001284	HP:0001284	Areflexia	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional	759
HP:0001284	HP:0001284	Areflexia	0	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4	HP:0040283 - Occasional	4
HP:0001284	HP:0001284	Areflexia	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C	.	186
HP:0001284	HP:0001284	Areflexia	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.	186
HP:0001284	HP:0001284	Areflexia	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0001284	HP:0001284	Areflexia	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0001284	HP:0001284	Areflexia	0	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.	79
HP:0001284	HP:0001284	Areflexia	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E		79
HP:0001284	HP:0001284	Areflexia	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.	79
HP:0001284	HP:0001284	Areflexia	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	79
HP:0001284	HP:0001284	Areflexia	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	79
HP:0001284	HP:0001284	Areflexia	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0001284	HP:0001284	Areflexia	0	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4	.	244
HP:0001284	HP:0001284	Areflexia	0	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2	.	244
HP:0001284	HP:0001284	Areflexia	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	HP:0040283 - Occasional	65
HP:0001284	HP:0001284	Areflexia	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional	65
HP:0001284	HP:0001284	Areflexia	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome	.	103
HP:0001284	HP:0001284	Areflexia	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25		60
HP:0001284	HP:0001284	Areflexia	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0001284	HP:0001284	Areflexia	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040282 - Frequent	464
HP:0001284	HP:0001284	Areflexia	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0001284	HP:0001284	Areflexia	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0001284	HP:0001284	Areflexia	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0001284	HP:0001284	Areflexia	0	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome	HP:0040282 - Frequent	464
HP:0001284	HP:0001284	Areflexia	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0001284	HP:0001284	Areflexia	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional	464
HP:0001284	HP:0001284	Areflexia	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0001284	HP:0001284	Areflexia	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	180
HP:0001284	HP:0001284	Areflexia	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	33
HP:0001284	HP:0001284	Areflexia	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	18
HP:0001284	HP:0001284	Areflexia	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	213
HP:0001284	HP:0001284	Areflexia	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.	221
HP:0001284	HP:0001284	Areflexia	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	221
HP:0001284	HP:0001284	Areflexia	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001284	HP:0001284	Areflexia	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0001284	HP:0001284	Areflexia	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0001284	HP:0001284	Areflexia	0	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040282 - Frequent	69
HP:0001284	HP:0001284	Areflexia	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001284	HP:0001284	Areflexia	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.	49
HP:0001284	HP:0001284	Areflexia	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5		49
HP:0001284	HP:0001284	Areflexia	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent	49
HP:0001284	HP:0001284	Areflexia	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040281 - Very frequent	49
HP:0001284	HP:0001284	Areflexia	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.	170
HP:0001284	HP:0001284	Areflexia	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	170
HP:0001284	HP:0001284	Areflexia	0	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0001284	HP:0001284	Areflexia	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0001284	HP:0001284	Areflexia	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.	50
HP:0001284	HP:0001284	Areflexia	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome		150
HP:0001284	HP:0001284	Areflexia	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome	.	150
HP:0001284	HP:0001284	Areflexia	0	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0001284	HP:0001284	Areflexia	0	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB	.	87
HP:0001284	HP:0001284	Areflexia	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0001284	HP:0001284	Areflexia	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.	54
HP:0001284	HP:0001284	Areflexia	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0001284	HP:0001284	Areflexia	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0001284	HP:0001284	Areflexia	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0001284	HP:0001284	Areflexia	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		3
HP:0001284	HP:0001284	Areflexia	0	RNF170 CL E G H	81790	25358	OMIM:608984	Ataxia, sensory, autosomal dominant	.	3
HP:0001284	HP:0001284	Areflexia	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		125
HP:0001284	HP:0001284	Areflexia	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0001284	HP:0001284	Areflexia	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0001284	HP:0001284	Areflexia	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0001284	HP:0001284	Areflexia	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0001284	HP:0001284	Areflexia	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent	1200
HP:0001284	HP:0001284	Areflexia	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0001284	HP:0001284	Areflexia	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0001284	HP:0001284	Areflexia	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0001284	HP:0001284	Areflexia	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040284 - Very rare	8
HP:0001284	HP:0001284	Areflexia	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	.	16
HP:0001284	HP:0001284	Areflexia	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0001284	HP:0001284	Areflexia	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.	180
HP:0001284	HP:0001284	Areflexia	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0001284	HP:0001284	Areflexia	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent	40
HP:0001284	HP:0001284	Areflexia	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001284	HP:0001284	Areflexia	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0001284	HP:0001284	Areflexia	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	144
HP:0001284	HP:0001284	Areflexia	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040281 - Very frequent	162
HP:0001284	HP:0001284	Areflexia	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0001284	HP:0001284	Areflexia	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040282 - Frequent	493
HP:0001284	HP:0001284	Areflexia	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040283 - Occasional	67
HP:0001284	HP:0001284	Areflexia	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0001284	HP:0001284	Areflexia	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0001284	HP:0001284	Areflexia	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0001284	HP:0001284	Areflexia	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0001284	HP:0001284	Areflexia	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	28
HP:0001284	HP:0001284	Areflexia	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001284	HP:0001284	Areflexia	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0001284	HP:0001284	Areflexia	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0001284	HP:0001284	Areflexia	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E		14
HP:0001284	HP:0001284	Areflexia	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.	47
HP:0001284	HP:0001284	Areflexia	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0001284	HP:0001284	Areflexia	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	9
HP:0001284	HP:0001284	Areflexia	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.	22
HP:0001284	HP:0001284	Areflexia	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0001284	HP:0001284	Areflexia	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0001284	HP:0001284	Areflexia	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0001284	HP:0001284	Areflexia	0	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18	.	2
HP:0001284	HP:0001284	Areflexia	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0001284	HP:0001284	Areflexia	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040282 - Frequent	94
HP:0001284	HP:0001284	Areflexia	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0001284	HP:0001284	Areflexia	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0001284	HP:0001284	Areflexia	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0001284	HP:0001284	Areflexia	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.	20
HP:0001284	HP:0001284	Areflexia	0	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X	.	287
HP:0001284	HP:0001284	Areflexia	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0001284	HP:0001284	Areflexia	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	.	54
HP:0001284	HP:0001284	Areflexia	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0001284	HP:0001284	Areflexia	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1		31
HP:0001284	HP:0001284	Areflexia	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0001284	HP:0001284	Areflexia	0	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K	.	73
HP:0001284	HP:0001284	Areflexia	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0001284	HP:0001284	Areflexia	0	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic	.	4
HP:0001284	HP:0001284	Areflexia	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0001284	HP:0001284	Areflexia	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	4
HP:0001284	HP:0001284	Areflexia	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional	16
HP:0001284	HP:0001284	Areflexia	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040282 - Frequent	13
HP:0001284	HP:0001284	Areflexia	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G		78
HP:0001284	HP:0001284	Areflexia	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent	52
HP:0001284	HP:0001284	Areflexia	0	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	.	52
HP:0001284	HP:0001284	Areflexia	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent	39
HP:0001284	HP:0001284	Areflexia	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.	39
HP:0001284	HP:0001284	Areflexia	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040281 - Very frequent	18
HP:0001284	HP:0001284	Areflexia	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0001284	HP:0001284	Areflexia	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0001284	HP:0001284	Areflexia	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0001284	HP:0001284	Areflexia	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0001284	HP:0001284	Areflexia	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	54
HP:0001284	HP:0001284	Areflexia	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0001284	HP:0001284	Areflexia	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	108
HP:0001284	HP:0001284	Areflexia	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	108
HP:0001284	HP:0001284	Areflexia	0	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.	3
HP:0001284	HP:0001284	Areflexia	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0001284	HP:0001284	Areflexia	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0001284	HP:0001284	Areflexia	0	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy	HP:0040283 - Occasional
HP:0001284	HP:0001284	Areflexia	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0001284	HP:0001284	Areflexia	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0001284	HP:0001284	Areflexia	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.	214
HP:0001284	HP:0001284	Areflexia	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128
HP:0001284	HP:0001284	Areflexia	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040281 - Very frequent	62
HP:0001284	HP:0001284	Areflexia	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.	62
HP:0001284	HP:0001284	Areflexia	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0001284	HP:0001284	Areflexia	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.	113
HP:0001284	HP:0001284	Areflexia	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	113
HP:0001284	HP:0001284	Areflexia	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0001284	HP:0001284	Areflexia	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional	113
HP:0001284	HP:0001284	Areflexia	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0001284	HP:0001284	Areflexia	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040281 - Very frequent	35
HP:0001284	HP:0001284	Areflexia	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0001284	HP:0001284	Areflexia	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0001284	HP:0001284	Areflexia	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.	2
HP:0001284	HP:0001284	Areflexia	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0001284	HP:0001284	Areflexia	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8		116
HP:0001284	HP:0001284	Areflexia	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y		63
HP:0001284	HP:0001284	Areflexia	0	VCP CL E G H	7415	12666	OMIM:616687	Charcot-Marie-Tooth disease, axonal, type 2Y	.	63
HP:0001284	HP:0001284	Areflexia	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130
HP:0001284	HP:0001284	Areflexia	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0001284	HP:0001284	Areflexia	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0001284	HP:0001284	Areflexia	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	.	8
HP:0001284	HP:0001284	Areflexia	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.	4
HP:0001284	HP:0001284	Areflexia	0	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0001284	HP:0001284	Areflexia	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0001284	HP:0031004	Hemiareflexia	1	CL E G H
HP:0001284	HP:0002522	Areflexia of lower limbs	1	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0001284	HP:0002522	Areflexia of lower limbs	1	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH		120
HP:0001284	HP:0002522	Areflexia of lower limbs	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0001284	HP:0002522	Areflexia of lower limbs	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0001284	HP:0002522	Areflexia of lower limbs	1	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0001284	HP:0002522	Areflexia of lower limbs	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0001284	HP:0002522	Areflexia of lower limbs	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0001284	HP:0002522	Areflexia of lower limbs	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	99
HP:0001284	HP:0002522	Areflexia of lower limbs	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43		114
HP:0001284	HP:0002522	Areflexia of lower limbs	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0001284	HP:0012046	Areflexia of upper limbs	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001284	HP:0002522	Areflexia of lower limbs	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040283 - Occasional	263
HP:0001284	HP:0012046	Areflexia of upper limbs	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0001284	HP:0002522	Areflexia of lower limbs	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0001284	HP:0002522	Areflexia of lower limbs	1	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	HP:0040282 - Frequent	3
HP:0001284	HP:0002522	Areflexia of lower limbs	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	167
HP:0001284	HP:0002522	Areflexia of lower limbs	1	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset		600
HP:0001284	HP:0002522	Areflexia of lower limbs	1	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1		600
HP:0001284	HP:0002522	Areflexia of lower limbs	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy		600
HP:0001284	HP:0002522	Areflexia of lower limbs	1	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive		2
HP:0001284	HP:0002522	Areflexia of lower limbs	1	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0001284	HP:0002522	Areflexia of lower limbs	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent	18
HP:0001284	HP:0002522	Areflexia of lower limbs	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.	18
HP:0001284	HP:0002522	Areflexia of lower limbs	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0001284	HP:0002522	Areflexia of lower limbs	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0001284	HP:0002522	Areflexia of lower limbs	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0001284	HP:0002522	Areflexia of lower limbs	1	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia		107
HP:0001284	HP:0002522	Areflexia of lower limbs	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0001284	HP:0002522	Areflexia of lower limbs	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0001284	HP:0002522	Areflexia of lower limbs	1	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0001284	HP:0002522	Areflexia of lower limbs	1	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0001284	HP:0002522	Areflexia of lower limbs	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0001284	HP:0002522	Areflexia of lower limbs	1	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB	.	47
HP:0001284	HP:0002522	Areflexia of lower limbs	1	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC	.	13
HP:0001284	HP:0002522	Areflexia of lower limbs	1	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA	.	38
HP:0001284	HP:0002522	Areflexia of lower limbs	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0001284	HP:0012046	Areflexia of upper limbs	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0001284	HP:0002522	Areflexia of lower limbs	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0001284	HP:0002522	Areflexia of lower limbs	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0001284	HP:0002522	Areflexia of lower limbs	1	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0001284	HP:0002522	Areflexia of lower limbs	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome		144
HP:0001284	HP:0002522	Areflexia of lower limbs	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0001284	HP:0002522	Areflexia of lower limbs	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.	4
HP:0001284	HP:0002522	Areflexia of lower limbs	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0001284	HP:0002522	Areflexia of lower limbs	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent	203
HP:0001284	HP:0002522	Areflexia of lower limbs	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0001284	HP:0002522	Areflexia of lower limbs	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0001284	HP:0002522	Areflexia of lower limbs	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	7
HP:0001284	HP:0002522	Areflexia of lower limbs	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	19
HP:0001284	HP:0002522	Areflexia of lower limbs	1	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0001284	HP:0002522	Areflexia of lower limbs	1	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body		75
HP:0001284	HP:0002522	Areflexia of lower limbs	1	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E		118
HP:0001284	HP:0002522	Areflexia of lower limbs	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome		214
HP:0001284	HP:0002522	Areflexia of lower limbs	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040282 - Frequent	163
HP:0001284	HP:0002522	Areflexia of lower limbs	1	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.	19
HP:0001284	HP:0002522	Areflexia of lower limbs	1	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0001284	HP:0002522	Areflexia of lower limbs	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0001284	HP:0002522	Areflexia of lower limbs	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001284	HP:0002522	Areflexia of lower limbs	1	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4		4
HP:0001284	HP:0002522	Areflexia of lower limbs	1	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0001284	HP:0002522	Areflexia of lower limbs	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0001284	HP:0002522	Areflexia of lower limbs	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.	60
HP:0001284	HP:0002522	Areflexia of lower limbs	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent	60
HP:0001284	HP:0002522	Areflexia of lower limbs	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0001284	HP:0002522	Areflexia of lower limbs	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0001284	HP:0002522	Areflexia of lower limbs	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0001284	HP:0002522	Areflexia of lower limbs	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0001284	HP:0002522	Areflexia of lower limbs	1	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5	.	49
HP:0001284	HP:0002522	Areflexia of lower limbs	1	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0001284	HP:0002522	Areflexia of lower limbs	1	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0001284	HP:0002522	Areflexia of lower limbs	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome		150
HP:0001284	HP:0002522	Areflexia of lower limbs	1	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0001284	HP:0002522	Areflexia of lower limbs	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent	3
HP:0001284	HP:0002522	Areflexia of lower limbs	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent	125
HP:0001284	HP:0002522	Areflexia of lower limbs	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0001284	HP:0002522	Areflexia of lower limbs	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0001284	HP:0002522	Areflexia of lower limbs	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0001284	HP:0002522	Areflexia of lower limbs	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0001284	HP:0002522	Areflexia of lower limbs	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0001284	HP:0012046	Areflexia of upper limbs	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0001284	HP:0002522	Areflexia of lower limbs	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0001284	HP:0002522	Areflexia of lower limbs	1	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0001284	HP:0002522	Areflexia of lower limbs	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.	22
HP:0001284	HP:0002522	Areflexia of lower limbs	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.	22
HP:0001284	HP:0002522	Areflexia of lower limbs	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.	1
HP:0001284	HP:0002522	Areflexia of lower limbs	1	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0001284	HP:0002522	Areflexia of lower limbs	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.	31
HP:0001284	HP:0002522	Areflexia of lower limbs	1	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.	78
HP:0001284	HP:0002522	Areflexia of lower limbs	1	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0001284	HP:0002522	Areflexia of lower limbs	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0001284	HP:0002522	Areflexia of lower limbs	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0001284	HP:0002522	Areflexia of lower limbs	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0001284	HP:0002522	Areflexia of lower limbs	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y		63
HP:0001284	HP:0002522	Areflexia of lower limbs	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0001284	HP:0012046	Areflexia of upper limbs	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8
HP:0001284	HP:0002522	Areflexia of lower limbs	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8
HP:0001284	HP:0033228	Triceps areflexia	2	CL E G H
HP:0001284	HP:0033230	Biceps areflexia	2	CL E G H
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43		114
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0001284	HP:0033229	Brachioradialis areflexia	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset		600
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1	.	600
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040283 - Occasional	600
HP:0001284	HP:0006844	Absent patellar reflexes	2	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive	HP:0040283 - Occasional	2
HP:0001284	HP:0006844	Absent patellar reflexes	2	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent	107
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0001284	HP:0006844	Absent patellar reflexes	2	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0001284	HP:0006844	Absent patellar reflexes	2	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040282 - Frequent	3
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0001284	HP:0006844	Absent patellar reflexes	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040283 - Occasional	144
HP:0001284	HP:0006844	Absent patellar reflexes	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2		203
HP:0001284	HP:0006844	Absent patellar reflexes	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional	203
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0001284	HP:0006844	Absent patellar reflexes	2	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body		75
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040282 - Frequent	118
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome		214
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract		163
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4		4
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0001284	HP:0006844	Absent patellar reflexes	2	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0001284	HP:0006844	Absent patellar reflexes	2	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040282 - Frequent	150
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0001284	HP:0006844	Absent patellar reflexes	2	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0001284	HP:0006844	Absent patellar reflexes	2	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y		63
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0001284	HP:0200101	Decreased/absent ankle reflexes	2	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8
HP:0001284	HP:0003438	Absent Achilles reflex	3	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0001284	HP:0003438	Absent Achilles reflex	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040283 - Occasional	89
HP:0001284	HP:0003438	Absent Achilles reflex	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional	89
HP:0001284	HP:0003438	Absent Achilles reflex	3	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive	.	1
HP:0001284	HP:0003438	Absent Achilles reflex	3	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional	36
HP:0001284	HP:0003438	Absent Achilles reflex	3	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0001284	HP:0003438	Absent Achilles reflex	3	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent	114
HP:0001284	HP:0003438	Absent Achilles reflex	3	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0001284	HP:0003438	Absent Achilles reflex	3	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040283 - Occasional	600
HP:0001284	HP:0003438	Absent Achilles reflex	3	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0001284	HP:0003438	Absent Achilles reflex	3	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0001284	HP:0003438	Absent Achilles reflex	3	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0001284	HP:0003438	Absent Achilles reflex	3	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040283 - Occasional
HP:0001284	HP:0003438	Absent Achilles reflex	3	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0001284	HP:0003438	Absent Achilles reflex	3	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040282 - Frequent	12
HP:0001284	HP:0003438	Absent Achilles reflex	3	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0001284	HP:0003438	Absent Achilles reflex	3	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0001284	HP:0003438	Absent Achilles reflex	3	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040283 - Occasional	3
HP:0001284	HP:0003438	Absent Achilles reflex	3	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040281 - Very frequent	203
HP:0001284	HP:0003438	Absent Achilles reflex	3	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0001284	HP:0003438	Absent Achilles reflex	3	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0001284	HP:0003438	Absent Achilles reflex	3	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body	.	75
HP:0001284	HP:0003438	Absent Achilles reflex	3	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040283 - Occasional	214
HP:0001284	HP:0003438	Absent Achilles reflex	3	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0001284	HP:0003438	Absent Achilles reflex	3	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040281 - Very frequent	4
HP:0001284	HP:0003438	Absent Achilles reflex	3	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0001284	HP:0003438	Absent Achilles reflex	3	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4	HP:0040281 - Very frequent	4
HP:0001284	HP:0003438	Absent Achilles reflex	3	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0001284	HP:0003438	Absent Achilles reflex	3	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	464
HP:0001284	HP:0003438	Absent Achilles reflex	3	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0001284	HP:0003438	Absent Achilles reflex	3	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	45
HP:0001284	HP:0003438	Absent Achilles reflex	3	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0001284	HP:0003438	Absent Achilles reflex	3	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0001284	HP:0003438	Absent Achilles reflex	3	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	125
HP:0001284	HP:0003438	Absent Achilles reflex	3	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040283 - Occasional	309
HP:0001284	HP:0003438	Absent Achilles reflex	3	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0001284	HP:0003438	Absent Achilles reflex	3	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	68
HP:0001284	HP:0003438	Absent Achilles reflex	3	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0001284	HP:0003438	Absent Achilles reflex	3	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0001284	HP:0003438	Absent Achilles reflex	3	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0001284	HP:0003438	Absent Achilles reflex	3	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0001284	HP:0003438	Absent Achilles reflex	3	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	113
HP:0001284	HP:0003438	Absent Achilles reflex	3	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0001284	HP:0003438	Absent Achilles reflex	3	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040282 - Frequent	63
HP:0001284	HP:0003438	Absent Achilles reflex	3	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130
HP:0001284	HP:0003438	Absent Achilles reflex	3	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8

Genes (288) :AARS1 ABHD5 ACER3 ACO2 ACOX1 ACTA1 ADCY6 AGRN AIFM1 ALDH18A1 ALDH4A1 ALG1 ALG14 ALG2 ALG6 AMPD1 ANXA11 APTX ARL6IP1 ARSI ASAH1 ASCC1 ATP11A ATP1A1 ATP1A2 ATP1A3 ATP6AP2 ATXN1 ATXN3 B3GALNT2 B4GAT1 BICD2 BIN1 C19ORF12 CACNA1A CADM3 CARS2 CD59 CDK5 CFL2 CHAT CHCHD10 CLPB CNTN1 CNTNAP1 CNTNAP2 COG7 COL12A1 COL13A1 COL25A1 COL4A1 COLQ COX6A1 CRPPA DAG1 DCAF8 DES DHX16 DKK1 DNAJB2 DNAJC3 DNM1L DNM2 DPAGT1 DPYD DST DYSF EGR2 ENTPD1 ERBB3 ERCC6 ERCC8 ERGIC1 ERLIN1 FBLN5 FBXO28 FGD4 FHL1 FIG4 FKRP FKTN FLVCR1 FXN FXR1 GAA GAN GARS1 GBE1 GBF1 GDAP1 GEMIN5 GFPT1 GIPC1 GJB1 GLE1 GMPPB GNE GOSR2 HACD1 HADHA HADHB HARS1 HINT1 HK1 HNRNPK HSD17B4 HSPB1 HSPB3 HSPB8 IBA57 IFRD1 IGHMBP2 INF2 INPP5K ISCU ITGA7 JAG1 JPH1 KARS1 KBTBD13 KCNJ18 KCNK9 KIF1A KIF1B KLC2 KLHL41 KLHL9 LAMA2 LAMB2 LARGE1 LGI4 LIFR LMNA LPIN1 LRP12 LRSAM1 MAG MAP3K20 MARS1 MCM3AP MED25 MEGF10 MFN2 MME MORC2 MPV17 MPZ MRE11 MTM1 MTMR14 MTRFR MTTP MYF6 MYH14 MYL1 MYL2 MYO1H MYO9A MYOT MYPN NARS2 NDRG1 NEB NEFL NOTCH2NLC OCRL OPA1 OPA3 ORAI1 PAX7 PDK3 PDSS1 PDXK PEX1 PEX10 PEX11B PEX12 PEX2 PEX3 PEX5 PGM3 PIEZO2 PIGB PIK3R5 PLA2G6 PLEC PLEKHG4 PLEKHG5 PMM2 PMP2 PMP22 PNKP PNPLA2 PNPLA6 PNPT1 POLG POLG2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP1R21 PPP2R5D PRNP PRORP PRPS1 PRX PSMC1 PYROXD1 RAB7A RAI1 REEP1 RETREG1 RFC1 RILPL1 RMND1 RNASEH1 RNF170 RRM2B RXYLT1 RYR1 SACS SAR1B SBF1 SBF2 SCN9A SCO2 SCYL2 SELENON SETX SH3TC2 SIL1 SLC12A6 SLC18A3 SLC1A3 SLC25A1 SLC25A21 SLC25A4 SLC25A46 SLC52A2 SLC5A6 SLC5A7 SMN1 SMN2 SNAP25 SNAP29 SOX10 SPEG SPG11 SPTBN4 SPTLC1 SQSTM1 STIM1 SUCLG1 SURF1 SYNE1 SYT2 TBCD TBCK TCAP TDP1 TECPR2 TFG TIMM50 TOR1A TPM2 TPM3 TRIM2 TRIM32 TRIP4 TRNT TRPV4 TTN TTPA TWNK TYMP UBA1 UGDH VAMP1 VAPB VCP VPS13A WNK1 XK XRCC1 YARS1 ZC4H2

Diseases (346) :OMIM:613287 OMIM:616339 OMIM:619691 ORPHA:98907 OMIM:617762 OMIM:614559 OMIM:618960 ORPHA:171439 ORPHA:2020 ORPHA:171433 OMIM:616852 OMIM:161800 OMIM:616287 ORPHA:98914 OMIM:300816 OMIM:300614 ORPHA:238329 ORPHA:101078 ORPHA:447757 ORPHA:447760 ORPHA:79101 OMIM:608540 ORPHA:353327 OMIM:603147 OMIM:615511 OMIM:619733 OMIM:208920 OMIM:615685 ORPHA:401815 OMIM:159950 OMIM:616867 OMIM:619851 OMIM:618036 ORPHA:2131 OMIM:601338 ORPHA:1171 ORPHA:93952 OMIM:164400 OMIM:109150 ORPHA:899 OMIM:615290 ORPHA:169189 ORPHA:169186 OMIM:255200 ORPHA:320370 OMIM:619519 OMIM:616672 OMIM:612300 OMIM:616342 OMIM:610687 OMIM:615911 ORPHA:276435 OMIM:615048 OMIM:616271 OMIM:612540 OMIM:616286 ORPHA:163681 ORPHA:79333 ORPHA:536516 OMIM:616470 ORPHA:1143 ORPHA:98915 OMIM:616039 OMIM:614643 OMIM:610100 ORPHA:98909 OMIM:618733 ORPHA:268882 OMIM:614881 OMIM:616192 ORPHA:445062 ORPHA:98673 OMIM:614388 OMIM:606482 OMIM:615368 OMIM:160150 ORPHA:1675 OMIM:614653 ORPHA:178400 OMIM:254130 ORPHA:45448 OMIM:145900 OMIM:605253 ORPHA:401810 OMIM:243180 ORPHA:90324 OMIM:278800 ORPHA:401785 OMIM:615681 OMIM:619764 OMIM:619777 OMIM:609311 OMIM:300717 OMIM:611228 OMIM:253800 OMIM:609033 ORPHA:88628 ORPHA:95 OMIM:229300 OMIM:618823 OMIM:618822 ORPHA:308552 OMIM:232300 ORPHA:643 OMIM:256850 OMIM:619042 OMIM:263570 OMIM:606483 ORPHA:101097 ORPHA:99948 OMIM:607831 OMIM:607706 OMIM:608340 OMIM:214400 OMIM:619333 ORPHA:98897 OMIM:302800 ORPHA:101075 ORPHA:1175 OMIM:611890 ORPHA:602 OMIM:614018 OMIM:619967 ORPHA:746 OMIM:609015 ORPHA:488333 OMIM:616625 ORPHA:324442 ORPHA:99953 ORPHA:352665 ORPHA:453504 OMIM:233400 OMIM:606595 OMIM:608634 OMIM:613376 OMIM:608673 OMIM:158590 OMIM:616451 ORPHA:98771 OMIM:616155 OMIM:614455 ORPHA:559 OMIM:255125 OMIM:118450 OMIM:619574 OMIM:613641 OMIM:613239 ORPHA:166108 OMIM:201300 OMIM:614213 OMIM:118210 OMIM:609541 ORPHA:399081 OMIM:607855 OMIM:618138 OMIM:609049 OMIM:613154 OMIM:617468 ORPHA:3206 OMIM:601559 ORPHA:98856 OMIM:605588 OMIM:268200 OMIM:164310 OMIM:614436 OMIM:616680 OMIM:616280 OMIM:618124 OMIM:605589 OMIM:614399 ORPHA:99947 OMIM:609260 OMIM:601152 OMIM:617017 ORPHA:497764 OMIM:616688 OMIM:619090 OMIM:618400 OMIM:256810 ORPHA:101082 OMIM:607677 OMIM:118200 OMIM:607791 OMIM:607736 OMIM:618184 ORPHA:3115 OMIM:180800 ORPHA:251347 OMIM:310400 ORPHA:254930 OMIM:613559 ORPHA:14 OMIM:614369 ORPHA:397744 OMIM:618414 OMIM:619482 OMIM:182920 OMIM:609200 OMIM:616239 OMIM:601455 OMIM:256030 ORPHA:99939 ORPHA:101085 OMIM:607684 OMIM:607734 OMIM:617882 OMIM:309000 ORPHA:534 ORPHA:1215 ORPHA:67036 OMIM:615883 OMIM:618578 ORPHA:352675 OMIM:614651 OMIM:618511 OMIM:214100 OMIM:614871 OMIM:614920 OMIM:614859 OMIM:614866 OMIM:614882 OMIM:214110 ORPHA:443811 OMIM:617146 OMIM:618580 OMIM:615217 ORPHA:64753 OMIM:256600 ORPHA:254361 ORPHA:98765 OMIM:615376 OMIM:611067 OMIM:212065 OMIM:618279 OMIM:118300 ORPHA:90658 OMIM:118220 OMIM:616267 OMIM:610717 ORPHA:98908 OMIM:215470 OMIM:608703 ORPHA:101111 ORPHA:726 ORPHA:254892 OMIM:603041 OMIM:258450 ORPHA:94125 OMIM:607459 ORPHA:70595 OMIM:613156 OMIM:619383 ORPHA:457279 OMIM:137440 ORPHA:356 OMIM:619737 OMIM:301835 OMIM:311070 ORPHA:1187 ORPHA:99014 OMIM:614895 OMIM:620071 OMIM:617258 OMIM:600882 ORPHA:477817 OMIM:182290 OMIM:620011 OMIM:614751 OMIM:613115 ORPHA:504476 OMIM:619790 OMIM:614922 ORPHA:329336 OMIM:608984 ORPHA:424107 OMIM:255320 ORPHA:98 OMIM:270550 ORPHA:71 OMIM:615284 ORPHA:99956 OMIM:604563 ORPHA:521411 OMIM:618766 OMIM:606002 ORPHA:99949 OMIM:620068 OMIM:218000 OMIM:618811 OMIM:616505 OMIM:619303 OMIM:614707 OMIM:619903 OMIM:253300 OMIM:253400 OMIM:271150 OMIM:616330 ORPHA:66631 OMIM:609528 OMIM:609136 OMIM:615959 OMIM:616668 OMIM:617519 OMIM:162400 OMIM:617158 OMIM:160565 OMIM:245400 OMIM:616684 OMIM:618484 OMIM:616040 OMIM:619461 ORPHA:496641 ORPHA:488632 OMIM:601954 ORPHA:94124 OMIM:607250 ORPHA:320385 OMIM:615031 ORPHA:90117 OMIM:604484 OMIM:617698 OMIM:128100 OMIM:615490 OMIM:254110 OMIM:616866 ORPHA:254857 OMIM:606071 OMIM:181405 OMIM:600175 ORPHA:96 OMIM:277460 OMIM:271245 OMIM:609286 ORPHA:1145 OMIM:301830 OMIM:618792 OMIM:618323 OMIM:608627 ORPHA:435387 OMIM:616687 OMIM:200150 ORPHA:2388 OMIM:300842 OMIM:617633 OMIM:608323 OMIM:314580

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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