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:
Limb muscle weakness (HP:0003690)

Parent Node:
Abnormality of the lower limb (HP:0002814)

Parent Node:
Distal muscle weakness (HP:0002460)

Parent Node:
Lower limb muscle weakness (HP:0007340)

..Starting node
..Distal lower limb muscle weakness (HP:0009053)

Term ID:

9053

Name:

Distal lower limb muscle weakness

Synonym:

Distal muscle weakness in lower limbs; Muscle weakness, lower limb, distal

Definition:

Reduced strength of the distal musculature of the legs.

Comments:

Reference:

HP:0009053

Genes and Diseases:

Child Nodes:

........

Tibialis muscle weakness (HP:0008963)

........

Peroneal muscle weakness (HP:0011727)

Sister Nodes:

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:0009053	HP:0009053	Distal lower limb muscle weakness	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040281 - Very frequent	135
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040281 - Very frequent	304
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy	HP:0040281 - Very frequent	304
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040281 - Very frequent	71
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040282 - Frequent
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent	105
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	65
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent	11
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040281 - Very frequent	11
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040282 - Frequent	1
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040281 - Very frequent	263
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q		12
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset		600
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent	600
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040282 - Frequent	197
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional	34
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy		173
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040281 - Very frequent
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040281 - Very frequent	12
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040281 - Very frequent	11
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB	.	47
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC	.	13
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA	.	38
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent	16
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040283 - Occasional	140
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent	203
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040281 - Very frequent	18
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040281 - Very frequent	8
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040281 - Very frequent	82
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional	759
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent	79
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040281 - Very frequent	79
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040283 - Occasional	244
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive		103
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent	87
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia		4
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent	5
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency		3
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	28
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	9
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	4
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.	78
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent	52
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy		214
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive		214
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490
HP:0009053	HP:0009053	Distal lower limb muscle weakness	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0009053	HP:0008963	Tibialis muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040282 - Frequent	600
HP:0009053	HP:0008963	Tibialis muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent	600
HP:0009053	HP:0011727	Peroneal muscle weakness	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0009053	HP:0008963	Tibialis muscle weakness	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0009053	HP:0008963	Tibialis muscle weakness	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040281 - Very frequent	173
HP:0009053	HP:0011727	Peroneal muscle weakness	1	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0009053	HP:0011727	Peroneal muscle weakness	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0009053	HP:0008963	Tibialis muscle weakness	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0009053	HP:0008963	Tibialis muscle weakness	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040281 - Very frequent	1269
HP:0009053	HP:0008963	Tibialis muscle weakness	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0009053	HP:0011727	Peroneal muscle weakness	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0009053	HP:0011727	Peroneal muscle weakness	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional	4
HP:0009053	HP:0011727	Peroneal muscle weakness	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0009053	HP:0008963	Tibialis muscle weakness	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040283 - Occasional	7128

Genes (87) :ABCD1 ADSS1 AGRN ANO5 ATL1 ATP6 BICD2 BSCL2 CCND1 CHAT CHCHD10 COL13A1 CPT1C DDHD2 DES DHTKD1 DNM2 DYSF EGR2 EMILIN1 EXTL3 FBLN5 FGD4 FLNC GARS1 GDAP1 GIPC1 GJB1 GMPPB GNE GYG1 HARS1 HINT1 HK1 HSPB1 HSPB3 HSPB8 IBA57 JAG2 KIF1A LMNA MAPT MATR3 MFN2 MME MORC2 MPZ MTMR14 MTRFR MTTP MYH7 MYO9A NDRG1 NEFL NOTCH2NLC PLEC PMP2 PMP22 PNKP PNPLA6 PRX RAB7A REEP1 SARDH SBF1 SBF2 SCYL1 SECISBP2 SLC12A6 SLC18A3 SLC25A1 SLC5A6 SLC5A7 SMPX SNAP25 SORD SPTLC2 SYT2 TCAP TDP1 TPM3 TRPV4 TTN VAMP1 VCP VHL VWA1

Diseases (82) :ORPHA:139399 ORPHA:482601 ORPHA:98914 ORPHA:206549 ORPHA:399096 ORPHA:100984 ORPHA:320360 OMIM:615290 ORPHA:139536 OMIM:619112 ORPHA:892 ORPHA:457050 ORPHA:276435 ORPHA:444099 OMIM:615033 ORPHA:98909 OMIM:615025 OMIM:160150 ORPHA:178400 ORPHA:45448 OMIM:145900 OMIM:620080 ORPHA:508533 OMIM:619764 OMIM:609311 ORPHA:63273 ORPHA:101097 ORPHA:98897 OMIM:302800 ORPHA:363623 ORPHA:602 OMIM:605820 OMIM:616199 ORPHA:488333 ORPHA:324442 ORPHA:99953 OMIM:608634 OMIM:613376 OMIM:158590 ORPHA:468661 OMIM:619566 OMIM:614213 ORPHA:98856 OMIM:181350 ORPHA:240094 OMIM:606070 ORPHA:99947 ORPHA:497764 ORPHA:466768 ORPHA:320375 ORPHA:14 ORPHA:437572 OMIM:160500 ORPHA:99950 ORPHA:101085 OMIM:607684 ORPHA:254361 OMIM:618279 ORPHA:98916 ORPHA:90658 ORPHA:459033 OMIM:612020 OMIM:600882 ORPHA:3129 OMIM:615284 ORPHA:99956 ORPHA:466794 ORPHA:171706 OMIM:620068 OMIM:619903 OMIM:301075 OMIM:618912 OMIM:613640 OMIM:601954 ORPHA:94124 OMIM:609284 OMIM:606071 OMIM:181405 OMIM:600175 ORPHA:178464 ORPHA:435387 OMIM:619216

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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