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 face (HP:0000271)

Parent Node:
Abnormal mouth floor morphology (HP:0410012)

Parent Node:
Abnormality of facial musculature (HP:0000301)

Parent Node:
Abnormality of the submandibular region (HP:0410013)

..Starting node
..Abnormality of mylohyoid muscle (HP:3000008)

Term ID:

3000008

Name:

Abnormality of mylohyoid muscle

Synonym:

Definition:

An abnormality of a mylohyoid muscle.

Comments:

Reference:

HP:3000008

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:3000008	HP:3000008	Abnormality of mylohyoid muscle	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.