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 eyebrow morphology (HP:0000534)

Parent Node:
Broad eyebrow (HP:0011229)

..Starting node
..Broad lateral eyebrow (HP:0007933)

Term ID:

7933

Name:

Broad lateral eyebrow

Synonym:

Wide lateral eyebrow

Definition:

Regional increase in the width (height) of the lateral eyebrow.

Comments:

Reference:

HP:0007933

Genes and Diseases:

Child Nodes:

Sister Nodes:

Extension of eyebrows towards upper eyelid (HP:0010731)

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:0007933	HP:0007933	Broad lateral eyebrow	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12

Genes (1) :SON

Diseases (1) :ORPHA:500150

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