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:
Flexion contracture (HP:0001371)

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

..Starting node
..Neck joint contracture (HP:0005997)

Term ID:

5997

Name:

Neck joint contracture

Synonym:

Neck joint contracture; Restricted neck mobility due to contractures; Restricted neck movement due to contractures

Definition:

Comments:

Reference:

HP:0005997

Genes and Diseases:

Child Nodes:

Sister Nodes:

Limited neck flexion (HP:0005991)

Limited neck range of motion (HP:0000466)

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:0005997	HP:0005997	Neck joint contracture	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.	478
HP:0005997	HP:0005997	Neck joint contracture	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional	18
HP:0005997	HP:0005997	Neck joint contracture	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0005997	HP:0005997	Neck joint contracture	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166

Genes (4) :COL6A2 ERLIN2 LMNA MYH3

Diseases (4) :OMIM:255600 ORPHA:209951 OMIM:181350 OMIM:193700

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.