Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Gait disturbance (HP:0001288)

Parent Node:
Inability to walk (HP:0002540)

..Starting node
..Loss of ambulation (HP:0002505)

Term ID:

2505

Name:

Loss of ambulation

Synonym:

Loss of ability to walk

Definition:

Inability to walk in a person who previous had the ability to walk.

Comments:

Reference:

HP:0002505

Genes and Diseases:

Child Nodes:

........

Loss of ability to walk in first decade (HP:0006794)

........

Inability to walk by childhood/adolescence (HP:0006915)

................... HP:0008945 Loss of ability to walk in early childhood

........

Loss of ability to walk (HP:0006957)

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:0002505	HP:0002505	Loss of ambulation	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset		72
HP:0002505	HP:0002505	Loss of ambulation	0	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0002505	HP:0002505	Loss of ambulation	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6		116
HP:0002505	HP:0002505	Loss of ambulation	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis		116
HP:0002505	HP:0002505	Loss of ambulation	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0002505	HP:0002505	Loss of ambulation	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0002505	HP:0002505	Loss of ambulation	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive		18
HP:0002505	HP:0002505	Loss of ambulation	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0002505	HP:0002505	Loss of ambulation	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0002505	HP:0002505	Loss of ambulation	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0002505	HP:0002505	Loss of ambulation	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0002505	HP:0002505	Loss of ambulation	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive		114
HP:0002505	HP:0002505	Loss of ambulation	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome		405
HP:0002505	HP:0002505	Loss of ambulation	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel		88
HP:0002505	HP:0002505	Loss of ambulation	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.	216
HP:0002505	HP:0002505	Loss of ambulation	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0002505	HP:0002505	Loss of ambulation	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0002505	HP:0002505	Loss of ambulation	0	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8
HP:0002505	HP:0002505	Loss of ambulation	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040283 - Occasional
HP:0002505	HP:0002505	Loss of ambulation	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040282 - Frequent	60
HP:0002505	HP:0002505	Loss of ambulation	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy		263
HP:0002505	HP:0002505	Loss of ambulation	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0002505	HP:0002505	Loss of ambulation	0	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1		103
HP:0002505	HP:0002505	Loss of ambulation	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0002505	HP:0002505	Loss of ambulation	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset		6
HP:0002505	HP:0002505	Loss of ambulation	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0002505	HP:0002505	Loss of ambulation	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy		600
HP:0002505	HP:0002505	Loss of ambulation	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B		600
HP:0002505	HP:0002505	Loss of ambulation	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked		107
HP:0002505	HP:0002505	Loss of ambulation	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0002505	HP:0002505	Loss of ambulation	0	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19		15
HP:0002505	HP:0002505	Loss of ambulation	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040281 - Very frequent	76
HP:0002505	HP:0002505	Loss of ambulation	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040282 - Frequent	36
HP:0002505	HP:0002505	Loss of ambulation	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0002505	HP:0002505	Loss of ambulation	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0002505	HP:0002505	Loss of ambulation	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome		5
HP:0002505	HP:0002505	Loss of ambulation	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent	160
HP:0002505	HP:0002505	Loss of ambulation	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0002505	HP:0002505	Loss of ambulation	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0002505	HP:0002505	Loss of ambulation	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0002505	HP:0002505	Loss of ambulation	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0002505	HP:0002505	Loss of ambulation	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia		17
HP:0002505	HP:0002505	Loss of ambulation	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0002505	HP:0002505	Loss of ambulation	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6		88
HP:0002505	HP:0002505	Loss of ambulation	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0002505	HP:0002505	Loss of ambulation	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040283 - Occasional	11
HP:0002505	HP:0002505	Loss of ambulation	0	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3		31
HP:0002505	HP:0002505	Loss of ambulation	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type		19
HP:0002505	HP:0002505	Loss of ambulation	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0002505	HP:0002505	Loss of ambulation	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0002505	HP:0002505	Loss of ambulation	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0002505	HP:0002505	Loss of ambulation	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0002505	HP:0002505	Loss of ambulation	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0002505	HP:0002505	Loss of ambulation	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0002505	HP:0002505	Loss of ambulation	0	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive		645
HP:0002505	HP:0002505	Loss of ambulation	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome		125
HP:0002505	HP:0002505	Loss of ambulation	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0002505	HP:0002505	Loss of ambulation	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0002505	HP:0002505	Loss of ambulation	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome		140
HP:0002505	HP:0002505	Loss of ambulation	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0002505	HP:0002505	Loss of ambulation	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0002505	HP:0002505	Loss of ambulation	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome		950
HP:0002505	HP:0002505	Loss of ambulation	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0002505	HP:0002505	Loss of ambulation	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0002505	HP:0002505	Loss of ambulation	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0002505	HP:0002505	Loss of ambulation	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy		75
HP:0002505	HP:0002505	Loss of ambulation	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0002505	HP:0002505	Loss of ambulation	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0002505	HP:0002505	Loss of ambulation	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0002505	HP:0002505	Loss of ambulation	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome		1
HP:0002505	HP:0002505	Loss of ambulation	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis		7
HP:0002505	HP:0002505	Loss of ambulation	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0002505	HP:0002505	Loss of ambulation	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0002505	HP:0002505	Loss of ambulation	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0002505	HP:0002505	Loss of ambulation	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0002505	HP:0002505	Loss of ambulation	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0002505	HP:0002505	Loss of ambulation	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked		60
HP:0002505	HP:0002505	Loss of ambulation	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0002505	HP:0002505	Loss of ambulation	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0002505	HP:0002505	Loss of ambulation	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0002505	HP:0002505	Loss of ambulation	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0002505	HP:0002505	Loss of ambulation	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0002505	HP:0002505	Loss of ambulation	0	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7
HP:0002505	HP:0002505	Loss of ambulation	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		3
HP:0002505	HP:0002505	Loss of ambulation	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		125
HP:0002505	HP:0002505	Loss of ambulation	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0002505	HP:0002505	Loss of ambulation	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0002505	HP:0002505	Loss of ambulation	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0002505	HP:0002505	Loss of ambulation	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0002505	HP:0002505	Loss of ambulation	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0002505	HP:0002505	Loss of ambulation	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0002505	HP:0002505	Loss of ambulation	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0002505	HP:0002505	Loss of ambulation	0	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E		113
HP:0002505	HP:0002505	Loss of ambulation	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0002505	HP:0002505	Loss of ambulation	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0002505	HP:0002505	Loss of ambulation	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0002505	HP:0002505	Loss of ambulation	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome		135
HP:0002505	HP:0002505	Loss of ambulation	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0002505	HP:0002505	Loss of ambulation	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0002505	HP:0002505	Loss of ambulation	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0002505	HP:0002505	Loss of ambulation	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0002505	HP:0002505	Loss of ambulation	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35		58
HP:0002505	HP:0002505	Loss of ambulation	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0002505	HP:0002505	Loss of ambulation	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0002505	HP:0002505	Loss of ambulation	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)		113
HP:0002505	HP:0002505	Loss of ambulation	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0002505	HP:0002505	Loss of ambulation	0	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset		6
HP:0002505	HP:0002505	Loss of ambulation	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8		116
HP:0002505	HP:0002505	Loss of ambulation	0	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included		116
HP:0002505	HP:0002505	Loss of ambulation	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0002505	HP:0002505	Loss of ambulation	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0002505	HP:0002505	Loss of ambulation	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0002505	HP:0008945	Loss of ability to walk in early childhood	1	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent	17
HP:0002505	HP:0006794	Loss of ability to walk in first decade	1	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040282 - Frequent	75
HP:0002505	HP:0006794	Loss of ability to walk in first decade	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.	93
HP:0002505	HP:0008945	Loss of ability to walk in early childhood	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0002505	HP:0008945	Loss of ability to walk in early childhood	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103

Genes (106) :ACTB ADAM22 ADAR ALDH18A1 ALS2 AP4S1 APTX ATP6 BVES C19ORF12 CDKL5 CHRND CLN3 COQ2 CRAT CRPPA DARS2 DES DMD DNAJB6 DNAJC6 DSTYK DYSF EMD EPRS1 ERBB4 FA2H FARS2 FKRP FOXRED1 GABBR2 GALC GDAP1 GFM2 GGPS1 GIPC1 GLRX5 GMPPB GOSR2 HINT1 HK1 HNRNPA1 HSD17B10 HYCC1 IRF2BPL JAG2 KLHL9 LARGE1 LETM1 LMNA LRP5 LYRM7 MAG MAPT MARS2 MCM3AP MECP2 MECR MPV17 MYH7 MYOT NDUFA6 NEU1 NOTCH2NLC NTNG1 NUP62 OPTN PEX1 PEX16 PLA2G6 PLEC PLP1 POLR3A POLR3B POMT1 POMT2 PRX REPS1 RNASEH1 RRM2B SAMD9L SBF1 SDHA SDHAF1 SDHB SDHD SELENON SGCB SGCG SLC39A14 SLC9A6 SMC1A SMN1 SMN2 SUCLA2 TFG TGM6 TK2 TRIM32 TWNK UCHL1 VAC14 VAPB VCP VPS13A VPS16

Diseases (95) :OMIM:607371 OMIM:617933 OMIM:615010 ORPHA:225154 ORPHA:447757 OMIM:606353 OMIM:614067 OMIM:208920 OMIM:616812 OMIM:614298 OMIM:615043 ORPHA:3095 OMIM:616321 OMIM:204200 ORPHA:228346 OMIM:607426 OMIM:617917 ORPHA:352479 ORPHA:137898 ORPHA:98909 OMIM:310200 ORPHA:34516 OMIM:603511 OMIM:615528 OMIM:270750 ORPHA:45448 OMIM:253601 OMIM:310300 OMIM:617951 OMIM:615515 ORPHA:329308 ORPHA:466722 ORPHA:370968 OMIM:618241 ORPHA:206443 ORPHA:101097 ORPHA:565624 OMIM:619518 ORPHA:98897 ORPHA:401866 OMIM:614018 ORPHA:324442 ORPHA:99953 OMIM:615424 ORPHA:391428 OMIM:610532 OMIM:618088 OMIM:619566 ORPHA:399081 OMIM:620089 OMIM:616516 ORPHA:2788 OMIM:615838 OMIM:616680 ORPHA:240094 OMIM:611390 OMIM:618124 OMIM:617282 OMIM:256810 OMIM:255160 ORPHA:98911 OMIM:618253 ORPHA:93399 OMIM:613435 OMIM:214100 OMIM:614877 OMIM:612953 ORPHA:254361 OMIM:312920 OMIM:607694 OMIM:614895 OMIM:617916 ORPHA:329336 OMIM:619806 OMIM:615284 ORPHA:3208 OMIM:602771 OMIM:604286 OMIM:253700 ORPHA:521406 OMIM:300243 OMIM:253400 OMIM:612073 OMIM:615658 OMIM:613908 OMIM:609560 OMIM:254110 OMIM:271245 OMIM:615491 OMIM:617054 OMIM:608627 OMIM:182980 OMIM:167320 ORPHA:2388 OMIM:619291

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen