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 musculature (HP:0003011)

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

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

..Starting node
..Abnormal geniohyoid muscle morphology (HP:3000046)

Term ID:

3000046

Name:

Abnormal geniohyoid muscle morphology

Synonym:

Definition:

An abnormality of a geniohyoid muscle.

Comments:

Reference:

HP:3000046

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal platysma muscle morphology (HP:3000013)

Congenital muscular torticollis (HP:0005988)

Neck muscle hypertrophy (HP:0012893)

Neck muscle weakness (HP:0000467)

Torticollis (HP:0000473)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:3000046	HP:3000046	Abnormal geniohyoid muscle morphology	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.