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
..Unilateral narrow palpebral fissure (HP:0007946)

Term ID:

7946

Name:

Unilateral narrow palpebral fissure

Synonym:

Narrow palpebral fissure, unilateral; Unequal size of opening between the eyelids

Definition:

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.

Comments:

Reference:

HP:0007946

Genes and Diseases:

Child Nodes:

Sister Nodes:

Palpebral fissure narrowing on adduction (HP:0000661)

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:0007946	HP:0007946	Unilateral narrow palpebral fissure	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0007946	HP:0007946	Unilateral narrow palpebral fissure	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0007946	HP:0007946	Unilateral narrow palpebral fissure	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0007946	HP:0007946	Unilateral narrow palpebral fissure	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0007946	HP:0007946	Unilateral narrow palpebral fissure	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis

Genes (5) :COL25A1 RHOA SMARCA2 TBL1XR1 ZFHX4

Diseases (4) :ORPHA:91411 OMIM:618727 OMIM:601358 OMIM:602342

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