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:
Abnormality of the curvature of the vertebral column (HP:0010674)

Parent Node:
Abnormal thoracic spine morphology (HP:0100711)

Parent Node:
Scoliosis (HP:0002650)

..Starting node
..Thoracic scoliosis (HP:0002943)

Term ID:

2943

Name:

Thoracic scoliosis

Synonym:

Definition:

Comments:

Reference:

HP:0002943

Genes and Diseases:

Child Nodes:

........

Thoracic kyphoscoliosis (HP:0005659)

Sister Nodes:

Compensatory scoliosis (HP:0100884)

Kyphoscoliosis (HP:0002751)

Progressive congenital scoliosis (HP:0008458)

Thoracolumbar scoliosis (HP:0002944)

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:0002943	HP:0002943	Thoracic scoliosis	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0002943	HP:0002943	Thoracic scoliosis	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0002943	HP:0002943	Thoracic scoliosis	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0002943	HP:0002943	Thoracic scoliosis	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0002943	HP:0002943	Thoracic scoliosis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0002943	HP:0002943	Thoracic scoliosis	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0002943	HP:0002943	Thoracic scoliosis	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0002943	HP:0002943	Thoracic scoliosis	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0002943	HP:0002943	Thoracic scoliosis	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0002943	HP:0002943	Thoracic scoliosis	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0002943	HP:0002943	Thoracic scoliosis	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284
HP:0002943	HP:0002943	Thoracic scoliosis	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy		263
HP:0002943	HP:0002943	Thoracic scoliosis	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0002943	HP:0002943	Thoracic scoliosis	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0002943	HP:0002943	Thoracic scoliosis	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040283 - Occasional	2
HP:0002943	HP:0002943	Thoracic scoliosis	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive	HP:0040283 - Occasional	2
HP:0002943	HP:0002943	Thoracic scoliosis	0	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant		7
HP:0002943	HP:0002943	Thoracic scoliosis	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0002943	HP:0002943	Thoracic scoliosis	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare	12
HP:0002943	HP:0002943	Thoracic scoliosis	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome		25
HP:0002943	HP:0002943	Thoracic scoliosis	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0002943	HP:0002943	Thoracic scoliosis	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0002943	HP:0002943	Thoracic scoliosis	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0002943	HP:0002943	Thoracic scoliosis	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0002943	HP:0002943	Thoracic scoliosis	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0002943	HP:0002943	Thoracic scoliosis	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0002943	HP:0002943	Thoracic scoliosis	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0002943	HP:0002943	Thoracic scoliosis	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0002943	HP:0002943	Thoracic scoliosis	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0002943	HP:0002943	Thoracic scoliosis	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.	9
HP:0002943	HP:0002943	Thoracic scoliosis	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002943	HP:0002943	Thoracic scoliosis	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0002943	HP:0002943	Thoracic scoliosis	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0002943	HP:0002943	Thoracic scoliosis	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0002943	HP:0002943	Thoracic scoliosis	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0002943	HP:0002943	Thoracic scoliosis	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040282 - Frequent	105
HP:0002943	HP:0002943	Thoracic scoliosis	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0002943	HP:0002943	Thoracic scoliosis	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0002943	HP:0002943	Thoracic scoliosis	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0002943	HP:0002943	Thoracic scoliosis	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy		11
HP:0002943	HP:0002943	Thoracic scoliosis	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0002943	HP:0002943	Thoracic scoliosis	0	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0002943	HP:0002943	Thoracic scoliosis	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0002943	HP:0002943	Thoracic scoliosis	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome	.	68
HP:0002943	HP:0002943	Thoracic scoliosis	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0002943	HP:0002943	Thoracic scoliosis	0	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	HP:0040283 - Occasional	132
HP:0002943	HP:0002943	Thoracic scoliosis	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency		11
HP:0002943	HP:0002943	Thoracic scoliosis	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0002943	HP:0002943	Thoracic scoliosis	0	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome		3
HP:0002943	HP:0002943	Thoracic scoliosis	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome	.	123
HP:0002943	HP:0002943	Thoracic scoliosis	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0002943	HP:0002943	Thoracic scoliosis	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0002943	HP:0002943	Thoracic scoliosis	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0002943	HP:0002943	Thoracic scoliosis	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0002943	HP:0002943	Thoracic scoliosis	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.	27
HP:0002943	HP:0002943	Thoracic scoliosis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	1
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	74
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	53
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	88
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	139
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040283 - Occasional	263
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	91
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent	25
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	124
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	72
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040281 - Very frequent	105
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	73
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	263
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040282 - Frequent	11
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.	3
HP:0002943	HP:0005659	Thoracic kyphoscoliosis	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83

Genes (52) :AEBP1 AGRN AK9 ALMS1 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COL2A1 DES DMD DOK7 ERLIN1 GDF3 GNS HINT1 IARS2 ITCH LMNA LRP4 MOGS MTRFR MUSK MYH7 MYPN NEK9 NFIX NKX3-2 PCGF2 PEX5 PIK3R2 PLOD1 PRKG2 PUF60 PYCR2 RAB3GAP2 RAB5IF RAPSN RBBP8 SCN4A SGCA SOX5 SOX9 SPRTN TBX5 TPM2 TPM3 TUBB3 VPS13B WDR81 ZMPSTE24

Diseases (42) :ORPHA:536532 OMIM:618000 ORPHA:98913 ORPHA:64 ORPHA:166011 ORPHA:98909 ORPHA:206546 ORPHA:401785 OMIM:615681 OMIM:613702 OMIM:252940 ORPHA:324442 ORPHA:436174 OMIM:613385 ORPHA:1662 OMIM:606056 ORPHA:79330 ORPHA:254930 OMIM:255160 ORPHA:171881 OMIM:617022 OMIM:602535 OMIM:613330 OMIM:618371 OMIM:616716 OMIM:603387 ORPHA:1900 OMIM:619636 ORPHA:508488 ORPHA:508498 ORPHA:481152 OMIM:212720 OMIM:616994 OMIM:251255 ORPHA:62 ORPHA:313892 OMIM:114290 OMIM:616200 OMIM:142900 ORPHA:300570 OMIM:216550 OMIM:610185

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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