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:
Limb joint contracture (HP:0003121)

Parent Node:
Abnormality of the knee (HP:0002815)

Parent Node:
Lower-limb joint contracture (HP:0005750)

..Starting node
..Knee flexion contracture (HP:0006380)

Term ID:

6380

Name:

Knee flexion contracture

Synonym:

Contractures of knees; Contractures of the knees; Flexion contracture of knees; Flexion contractures at both knees; Flexion contractures of knees; Flexion deformity of the knee; Inability to straighten knee; Knee contracture; Knee contractures; Knee flexion contractures; Knee flexion deformity

Definition:

A bent (flexed) knee joint that cannot be straightened actively or passively.

Comments:

Reference:

HP:0006380

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adductor longus contractures (HP:0006366)

Ankle flexion contracture (HP:0006466)

Congenital foot contractures (HP:0005745)

Foot joint contracture (HP:0008366)

Hamstring contractures (HP:0003089)

Hip contracture (HP:0003273)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006380	HP:0006380	Knee flexion contracture	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0006380	HP:0006380	Knee flexion contracture	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		12
HP:0006380	HP:0006380	Knee flexion contracture	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		46
HP:0006380	HP:0006380	Knee flexion contracture	0	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive	.		3
HP:0006380	HP:0006380	Knee flexion contracture	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0006380	HP:0006380	Knee flexion contracture	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.		204
HP:0006380	HP:0006380	Knee flexion contracture	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	HP:0040283 - Occasional		46
HP:0006380	HP:0006380	Knee flexion contracture	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent		114
HP:0006380	HP:0006380	Knee flexion contracture	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.		114
HP:0006380	HP:0006380	Knee flexion contracture	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0006380	HP:0006380	Knee flexion contracture	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0006380	HP:0006380	Knee flexion contracture	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0006380	HP:0006380	Knee flexion contracture	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.		9
HP:0006380	HP:0006380	Knee flexion contracture	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		65
HP:0006380	HP:0006380	Knee flexion contracture	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0006380	HP:0006380	Knee flexion contracture	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent		3
HP:0006380	HP:0006380	Knee flexion contracture	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		442
HP:0006380	HP:0006380	Knee flexion contracture	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		478
HP:0006380	HP:0006380	Knee flexion contracture	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		702
HP:0006380	HP:0006380	Knee flexion contracture	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0006380	HP:0006380	Knee flexion contracture	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0006380	HP:0006380	Knee flexion contracture	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0006380	HP:0006380	Knee flexion contracture	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0006380	HP:0006380	Knee flexion contracture	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		38
HP:0006380	HP:0006380	Knee flexion contracture	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0006380	HP:0006380	Knee flexion contracture	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0006380	HP:0006380	Knee flexion contracture	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked			107
HP:0006380	HP:0006380	Knee flexion contracture	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0006380	HP:0006380	Knee flexion contracture	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0006380	HP:0006380	Knee flexion contracture	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0006380	HP:0006380	Knee flexion contracture	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040283 - Occasional		2
HP:0006380	HP:0006380	Knee flexion contracture	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent		18
HP:0006380	HP:0006380	Knee flexion contracture	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040282 - Frequent		18
HP:0006380	HP:0006380	Knee flexion contracture	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional		92
HP:0006380	HP:0006380	Knee flexion contracture	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0006380	HP:0006380	Knee flexion contracture	0	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0006380	HP:0006380	Knee flexion contracture	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0006380	HP:0006380	Knee flexion contracture	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0006380	HP:0006380	Knee flexion contracture	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	HP:0003577 - Congenital onset	61
HP:0006380	HP:0006380	Knee flexion contracture	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0006380	HP:0006380	Knee flexion contracture	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		128
HP:0006380	HP:0006380	Knee flexion contracture	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0006380	HP:0006380	Knee flexion contracture	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0006380	HP:0006380	Knee flexion contracture	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0006380	HP:0006380	Knee flexion contracture	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040282 - Frequent		270
HP:0006380	HP:0006380	Knee flexion contracture	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		34
HP:0006380	HP:0006380	Knee flexion contracture	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0006380	HP:0006380	Knee flexion contracture	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0006380	HP:0006380	Knee flexion contracture	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0006380	HP:0006380	Knee flexion contracture	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0006380	HP:0006380	Knee flexion contracture	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0006380	HP:0006380	Knee flexion contracture	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0006380	HP:0006380	Knee flexion contracture	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0006380	HP:0006380	Knee flexion contracture	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent		141
HP:0006380	HP:0006380	Knee flexion contracture	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040283 - Occasional		3
HP:0006380	HP:0006380	Knee flexion contracture	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0006380	HP:0006380	Knee flexion contracture	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0006380	HP:0006380	Knee flexion contracture	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0006380	HP:0006380	Knee flexion contracture	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0006380	HP:0006380	Knee flexion contracture	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0006380	HP:0006380	Knee flexion contracture	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0006380	HP:0006380	Knee flexion contracture	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0006380	HP:0006380	Knee flexion contracture	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0006380	HP:0006380	Knee flexion contracture	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0006380	HP:0006380	Knee flexion contracture	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	.		166
HP:0006380	HP:0006380	Knee flexion contracture	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0006380	HP:0006380	Knee flexion contracture	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0006380	HP:0006380	Knee flexion contracture	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0006380	HP:0006380	Knee flexion contracture	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0006380	HP:0006380	Knee flexion contracture	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0006380	HP:0006380	Knee flexion contracture	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		48
HP:0006380	HP:0006380	Knee flexion contracture	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040281 - Very frequent		15
HP:0006380	HP:0006380	Knee flexion contracture	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0006380	HP:0006380	Knee flexion contracture	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0006380	HP:0006380	Knee flexion contracture	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0006380	HP:0006380	Knee flexion contracture	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0006380	HP:0006380	Knee flexion contracture	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0006380	HP:0006380	Knee flexion contracture	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0006380	HP:0006380	Knee flexion contracture	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.		12
HP:0006380	HP:0006380	Knee flexion contracture	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.	HP:0003577 - Congenital onset	45
HP:0006380	HP:0006380	Knee flexion contracture	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional		27
HP:0006380	HP:0006380	Knee flexion contracture	0	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0006380	HP:0006380	Knee flexion contracture	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0006380	HP:0006380	Knee flexion contracture	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.		58
HP:0006380	HP:0006380	Knee flexion contracture	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0006380	HP:0006380	Knee flexion contracture	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent		10
HP:0006380	HP:0006380	Knee flexion contracture	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0006380	HP:0006380	Knee flexion contracture	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.		11
HP:0006380	HP:0006380	Knee flexion contracture	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0006380	HP:0006380	Knee flexion contracture	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		304
HP:0006380	HP:0006380	Knee flexion contracture	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		16
HP:0006380	HP:0006380	Knee flexion contracture	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		237
HP:0006380	HP:0006380	Knee flexion contracture	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		129
HP:0006380	HP:0006380	Knee flexion contracture	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0006380	HP:0006380	Knee flexion contracture	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0006380	HP:0006380	Knee flexion contracture	0	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.		2
HP:0006380	HP:0006380	Knee flexion contracture	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0006380	HP:0006380	Knee flexion contracture	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0006380	HP:0006380	Knee flexion contracture	0	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0006380	HP:0006380	Knee flexion contracture	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.		80
HP:0006380	HP:0006380	Knee flexion contracture	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0006380	HP:0006380	Knee flexion contracture	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0006380	HP:0006380	Knee flexion contracture	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0006380	HP:0006380	Knee flexion contracture	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0006380	HP:0006380	Knee flexion contracture	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0006380	HP:0006380	Knee flexion contracture	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0006380	HP:0006380	Knee flexion contracture	0	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.		3
HP:0006380	HP:0006380	Knee flexion contracture	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0006380	HP:0006380	Knee flexion contracture	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0006380	HP:0006380	Knee flexion contracture	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		23
HP:0006380	HP:0006380	Knee flexion contracture	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17

Genes (98) :ACTA1 ALG14 ALG2 ANKLE2 ATP6V1E1 BAG3 BICD2 C19ORF12 CFL2 CHRNB1 CHRNG CNTNAP1 COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 CPT2 DDR2 DHX16 DMD DPAGT1 DPM1 EMD ERCC1 ERCC6 ERGIC1 ERLIN1 ERLIN2 ESCO2 FBN1 FBN2 FDFT1 FKBP10 FLNA GFPT1 GJB2 GJB6 GLI3 GMPPB GNB2 GNPTAB HACD1 HS2ST1 ITGA7 JAG2 KAT6B KY LBR LGI4 LIFR LMBRD2 LMX1B MAP3K20 MEGF8 MYH3 MYL1 MYL11 MYL2 MYO9A NALCN NT5C2 PI4KA PIEZO2 PIGA PIGY PIK3R2 PLOD2 PSAT1 PSTPIP1 PTDSS1 PTH1R RNU4ATAC RPL10 RTTN SCARF2 SCYL2 SDHA SDHAF1 SDHB SDHD SELENON SIK3 SLC18A3 SLC25A46 SLC39A8 SNAP25 SRD5A3 SVIL SYT2 TELO2 TPM2 TPM3 TRIM2 TRPV4 UBA1 UNC80 ZBTB20

Diseases (90) :ORPHA:2020 ORPHA:353327 OMIM:616681 OMIM:617402 OMIM:612954 OMIM:615290 ORPHA:320370 OMIM:615043 OMIM:610687 OMIM:616313 OMIM:265000 OMIM:616286 ORPHA:75840 ORPHA:536516 ORPHA:1143 OMIM:608836 OMIM:271665 OMIM:618733 OMIM:310200 OMIM:608799 ORPHA:79322 OMIM:310300 OMIM:610758 OMIM:214150 ORPHA:401785 ORPHA:209951 ORPHA:280384 ORPHA:3103 OMIM:268300 OMIM:184900 OMIM:121050 OMIM:618156 OMIM:259450 OMIM:305620 OMIM:148210 ORPHA:477 ORPHA:93322 OMIM:619503 ORPHA:576 OMIM:619194 OMIM:619566 OMIM:606170 ORPHA:85201 ORPHA:496689 OMIM:618019 OMIM:617468 ORPHA:3206 OMIM:601559 OMIM:619694 ORPHA:2614 OMIM:614976 OMIM:193700 OMIM:178110 OMIM:618414 OMIM:619110 OMIM:618198 OMIM:616266 ORPHA:371364 ORPHA:320396 OMIM:619708 OMIM:616531 OMIM:619621 OMIM:114300 OMIM:300868 OMIM:616809 OMIM:603387 OMIM:609220 ORPHA:284417 OMIM:604416 OMIM:151050 OMIM:156400 OMIM:210710 ORPHA:435938 ORPHA:468631 OMIM:600920 ORPHA:3208 OMIM:618162 OMIM:617239 OMIM:619303 ORPHA:468699 OMIM:616330 OMIM:612713 OMIM:619040 OMIM:619461 ORPHA:488642 OMIM:108120 OMIM:615490 OMIM:600175 ORPHA:1145 OMIM:259050

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