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:
Abnormality of the vertebral column (HP:0000925)

Parent Node:
Abnormality of the cervical spine (HP:0003319)

..Starting node
..Cervical spine instability (HP:0010646)

Term ID:

10646

Name:

Cervical spine instability

Synonym:

Definition:

An abnormal lack of stability of the cervical spine.

Comments:

Reference:

HP:0010646

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal cervical curvature (HP:0005905)

Aplasia/Hypoplasia of the cervical spine (HP:0011041)

C1-C2 vertebral abnormality (HP:0008440)

Cervical platyspondyly (HP:0004558)

Cervical spine hypermobility (HP:0003318)

Cervical spondylosis (HP:0008480)

Cervical subluxation (HP:0003308)

Cervical vertebral bodies with decreased anteroposterior diameter (HP:0008483)

Cervical vertebral dysplasia (HP:0008469)

Decreased cervical spine mobility (HP:0004637)

Enlarged sagittal diameter of the cervical canal (HP:0005878)

Short neck (HP:0000470)

Widening of cervical spinal canal (HP:0004571)

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:0010646	HP:0010646	Cervical spine instability	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0010646	HP:0010646	Cervical spine instability	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0010646	HP:0010646	Cervical spine instability	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	HP:0040283 - Occasional	7
HP:0010646	HP:0010646	Cervical spine instability	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040282 - Frequent	284
HP:0010646	HP:0010646	Cervical spine instability	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040284 - Very rare	89
HP:0010646	HP:0010646	Cervical spine instability	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	HP:0040283 - Occasional	6
HP:0010646	HP:0010646	Cervical spine instability	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010646	HP:0010646	Cervical spine instability	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0010646	HP:0010646	Cervical spine instability	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0010646	HP:0010646	Cervical spine instability	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239

Genes (10) :ARSL B3GALT6 BGN COL2A1 COMP POP1 SMAD3 SOX9 TGFB3 TGFBR1

Diseases (10) :ORPHA:79345 ORPHA:536467 OMIM:300989 ORPHA:485 ORPHA:750 OMIM:617396 OMIM:613795 OMIM:114290 OMIM:615582 OMIM:609192

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