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 thoracic spine morphology (HP:0100711)

Grandparent Node:
Scoliosis (HP:0002650)

Parent Node:
Thoracic scoliosis (HP:0002943)

..Starting node
..Thoracic kyphoscoliosis (HP:0005659)

Term ID:

5659

Name:

Thoracic kyphoscoliosis

Synonym:

Definition:

Comments:

Reference:

HP:0005659

Genes and Diseases:

Child Nodes:

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:0005659	HP:0005659	Thoracic kyphoscoliosis	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	1
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	74
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	53
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	88
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	139
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040283 - Occasional	263
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	91
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	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:0005659	HP:0005659	Thoracic kyphoscoliosis	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	124
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	72
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	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:0005659	HP:0005659	Thoracic kyphoscoliosis	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	73
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	263
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040282 - Frequent	11
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.	3
HP:0005659	HP:0005659	Thoracic kyphoscoliosis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83

Genes (23) :AGRN AK9 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DES DOK7 IARS2 ITCH LMNA LRP4 MUSK NKX3-2 PCGF2 PLOD1 PYCR2 RAPSN SCN4A SOX5 SPRTN ZMPSTE24

Diseases (11) :ORPHA:98913 ORPHA:98909 ORPHA:436174 OMIM:613385 ORPHA:1662 OMIM:613330 OMIM:618371 ORPHA:1900 ORPHA:481152 ORPHA:313892 OMIM:616200

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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