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 neck (HP:0000464)

Parent Node:
Limitation of neck motion (HP:0005986)

..Starting node
..Limited neck range of motion (HP:0000466)

Term ID:

466

Name:

Limited neck range of motion

Synonym:

Limited cervical range of motion; Limited neck range of motion

Definition:

Comments:

Reference:

HP:0000466

Genes and Diseases:

Child Nodes:

Sister Nodes:

Limited neck flexion (HP:0005991)

Neck joint contracture (HP:0005997)

Nuchal rigidity (HP:0031179)

Stiff neck (HP:0025258)

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:0000466	HP:0000466	Limited neck range of motion	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0000466	HP:0000466	Limited neck range of motion	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0000466	HP:0000466	Limited neck range of motion	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0000466	HP:0000466	Limited neck range of motion	0	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.	5
HP:0000466	HP:0000466	Limited neck range of motion	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0000466	HP:0000466	Limited neck range of motion	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0000466	HP:0000466	Limited neck range of motion	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0000466	HP:0000466	Limited neck range of motion	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0000466	HP:0000466	Limited neck range of motion	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0000466	HP:0000466	Limited neck range of motion	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0000466	HP:0000466	Limited neck range of motion	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318

Genes (11) :GABRA1 GABRG2 GDF6 MEOX1 MYL11 NOG PCDH19 SCN1A SCN1B SCN2A SCN9A

Diseases (5) :ORPHA:33069 OMIM:118100 OMIM:214300 OMIM:619110 OMIM:184460

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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