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:
Ptosis (HP:0000508)

Parent Node:
Bilateral ptosis (HP:0001488)

Parent Node:
Congenital ptosis (HP:0007970)

..Starting node
..Congenital bilateral ptosis (HP:0007911)

Term ID:

7911

Name:

Congenital bilateral ptosis

Synonym:

Congenital drooping of both upper eyelids; Ptosis, bilateral congenital; Ptosis, congenital bilateral

Definition:

Comments:

Reference:

HP:0007911

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007911	HP:0007911	Congenital bilateral ptosis	0	IGF1 CL E G H	3479	73272	ORPHA	0	170	5464	147440
HP:0007911	HP:0007911	Congenital bilateral ptosis	0	IGF1 CL E G H	3479	73272	ORPHA	0	178	5464	147440

Genes (1) :IGF1

Diseases (1) :73272

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.