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 facial shape (HP:0001999)

Parent Node:
Coarse facial features (HP:0000280)

..Starting node
..Pugilistic facies (HP:0000339)

Term ID:

339

Name:

Pugilistic facies

Synonym:

Boxer-like facial appearance; Pugilistic facial appearance

Definition:

Coarse facial features reminiscent of those of a boxer.

Comments:

Reference:

HP:0000339

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0000339	HP:0000339	Pugilistic facies	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0000339	HP:0000339	Pugilistic facies	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68

Genes (2) :COL2A1 FHL1

Diseases (2) :OMIM:271700 OMIM:300280

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