Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 eyelid morphology (HP:0000492)

Parent Node:
Hooded eyelid (HP:0030820)

..Starting node
..Hooded upper eyelid (HP:0030822)

Term ID:

30822

Name:

Hooded upper eyelid

Synonym:

Definition:

Upper eyelid partly covered by skin when eyes are open.

Comments:

Reference:

HP:0030822

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hooded lower eyelid (HP:0030821)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030822	HP:0030822	Hooded upper eyelid	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0030822	HP:0030822	Hooded upper eyelid	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4	3
HP:0030822	HP:0030822	Hooded upper eyelid	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC	1

Genes (3) :MYMX PIGQ PRR12

Diseases (3) :OMIM:619941 OMIM:618548 OMIM:619539

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