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 muscle size (HP:0030236)

Grandparent Node:
obsolete Abnormality of skeletal muscles (HP:0040290)

Parent Node:
Abnormal morphology of the musculature of the neck (HP:0011006)

Parent Node:
Skeletal muscle hypertrophy (HP:0003712)

..Starting node
..Neck muscle hypertrophy (HP:0012893)

Term ID:

12893

Name:

Neck muscle hypertrophy

Synonym:

Hyperplasia of neck muscles; Hypertrophy of cervical muscles; Increased size of neck muscles; Large neck muscles; Overgrowth of neck muscles

Definition:

Muscle hypertrophy affecting the muscles of the neck.

Comments:

Reference:

HP:0012893

Genes and Diseases:

Child Nodes:

Sister Nodes:

Facial muscle hypertrophy (HP:0012892)

Generalized muscle hypertrophy (HP:0003720)

Macroglossia (HP:0000158)

Muscle hypertrophy of the lower extremities (HP:0008968)

obsolete Marked muscular hypertrophy (HP:0009042)

Paraspinal muscle hypertrophy (HP:0012894)

Scapular muscle hypertrophy (HP:0012895)

Upper limb muscle hypertrophy (HP:0040265)

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:0012893	HP:0012893	Neck muscle hypertrophy	0	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type	HP:0040282 - Frequent	16

Genes (1) :CIZ1

Diseases (1) :ORPHA:420492

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