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:
Abnormal muscle physiology (HP:0011804)

Parent Node:
Abnormal axial muscle morphology (HP:0040286)

Parent Node:
Muscle stiffness (HP:0003552)

..Starting node
..Axial muscle stiffness (HP:0006921)

Term ID:

6921

Name:

Axial muscle stiffness

Synonym:

Definition:

Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.

Comments:

Reference:

HP:0006921

Genes and Diseases:

Child Nodes:

Sister Nodes:

Asymmetric limb muscle stiffness (HP:0007156)

Exercise-induced muscle stiffness (HP:0008967)

Leg muscle stiffness (HP:0008969)

Proximal limb muscle stiffness (HP:0007066)

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:0006921	HP:0006921	Axial muscle stiffness	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040283 - Occasional	140
HP:0006921	HP:0006921	Axial muscle stiffness	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040282 - Frequent	140

Genes (1) :MAPT

Diseases (2) :ORPHA:240071 ORPHA:240085

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