Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460)

Parent Node:
Abnormality of the neck (HP:0000464)

Parent Node:
Hypoplasia of the musculature (HP:0009004)

..Starting node
..Neck muscle hypoplasia (HP:0008984)

Term ID:

8984

Name:

Neck muscle hypoplasia

Synonym:

Decreased size of neck muscle; Deficiency of neck muscle; Hypotrophic neck muscle; Small neck muscle; Underdevelopment of neck muscle

Definition:

Underdevelopment of muscles of the neck.

Comments:

Reference:

HP:0008984

Genes and Diseases:

Child Nodes:

Sister Nodes:

Calf muscle hypoplasia (HP:0008962)

Pectoralis hypoplasia (HP:0008998)

Shoulder muscle hypoplasia (HP:0008952)

Upper limb muscle hypoplasia (HP:0009016)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008984	HP:0008984	Neck muscle hypoplasia	0	CL E G H

Genes (0) :

Diseases (0) :

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