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 palpebral fissures (HP:0008050)

Parent Node:
Abnormal shape of the palpebral fissure (HP:0200005)

..Starting node
..S-shaped palpebral fissures (HP:0007835)

Term ID:

7835

Name:

S-shaped palpebral fissures

Synonym:

S-shaped eyes; S-shaped opening between the eyelids

Definition:

Comments:

Reference:

HP:0007835

Genes and Diseases:

Child Nodes:

Sister Nodes:

Almond-shaped palpebral fissure (HP:0007874)

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:0007835	HP:0007835	S-shaped palpebral fissures	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0007835	HP:0007835	S-shaped palpebral fissures	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92

Genes (2) :BRF1 FOXL2

Diseases (2) :ORPHA:444072 ORPHA:572333

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