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 size of the palpebral fissures (HP:0200007)

Parent Node:
Blepharophimosis (HP:0000581)

..Starting node
..Palpebral fissure narrowing on adduction (HP:0000661)

Term ID:

661

Name:

Palpebral fissure narrowing on adduction

Synonym:

Definition:

Comments:

Reference:

HP:0000661

Genes and Diseases:

Child Nodes:

Sister Nodes:

Unilateral narrow palpebral fissure (HP:0007946)

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:0000661	HP:0000661	Palpebral fissure narrowing on adduction	0	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness	.	63
HP:0000661	HP:0000661	Palpebral fissure narrowing on adduction	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86

Genes (2) :MAFB SALL4

Diseases (2) :OMIM:617041 OMIM:607323

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