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 flexion (HP:0005991)

Term ID:

5991

Name:

Limited neck flexion

Synonym:

Limited cervical flexion; Limited neck flexibility

Definition:

Reduced abilty to lower the chin towards the chest by bending the neck.

Comments:

Reference:

HP:0005991

Genes and Diseases:

Child Nodes:

Sister Nodes:

Limited neck range of motion (HP:0000466)

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:0005991	HP:0005991	Limited neck flexion	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0005991	HP:0005991	Limited neck flexion	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	1269
HP:0005991	HP:0005991	Limited neck flexion	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0005991	HP:0005991	Limited neck flexion	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	144
HP:0005991	HP:0005991	Limited neck flexion	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0005991	HP:0005991	Limited neck flexion	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	7128

Genes (4) :FHL1 MYH7 SELENON TTN

Diseases (4) :OMIM:300696 ORPHA:324604 ORPHA:437572 OMIM:602771

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