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

Parent Node:
Abnormal cervical curvature (HP:0005905)

Parent Node:
Kyphosis (HP:0002808)

..Starting node
..Cervical kyphosis (HP:0002947)

Term ID:

2947

Name:

Cervical kyphosis

Synonym:

Rounded neck

Definition:

Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.

Comments:

Reference:

HP:0002947

Genes and Diseases:

Child Nodes:

Sister Nodes:

Kyphoscoliosis (HP:0002751)

Thoracic kyphosis (HP:0002942)

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:0002947	HP:0002947	Cervical kyphosis	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0002947	HP:0002947	Cervical kyphosis	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent	27
HP:0002947	HP:0002947	Cervical kyphosis	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent	13
HP:0002947	HP:0002947	Cervical kyphosis	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.	233
HP:0002947	HP:0002947	Cervical kyphosis	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0002947	HP:0002947	Cervical kyphosis	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0002947	HP:0002947	Cervical kyphosis	0	RIPPLY2 CL E G H	134701	21390	OMIM:616566	Spondylocostal dysostosis 6, autosomal recessive	.	3
HP:0002947	HP:0002947	Cervical kyphosis	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional	166
HP:0002947	HP:0002947	Cervical kyphosis	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0002947	HP:0002947	Cervical kyphosis	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.	166
HP:0002947	HP:0002947	Cervical kyphosis	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0002947	HP:0002947	Cervical kyphosis	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109

Genes (8) :ARSL CHST14 DSE FLNB HSPG2 RIPPLY2 SLC26A2 SOX9

Diseases (11) :ORPHA:79345 ORPHA:2953 OMIM:108721 OMIM:150250 OMIM:255800 OMIM:616566 ORPHA:56304 OMIM:256050 OMIM:222600 ORPHA:93307 OMIM:114290

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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