Human Phenotype Ontology

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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:
Aplasia/Hypoplasia of the eyelid (HP:0011226)

Parent Node:
Eyelid coloboma (HP:0000625)

..Starting node
..Upper eyelid coloboma (HP:0000636)

Term ID:

636

Name:

Upper eyelid coloboma

Synonym:

Cleft upper eyelid; Coloboma of the upper eyelid; Full thickness defect of the upper eyelid; Notched upper eyelid; Upper eyelid colobomas

Definition:

A short discontinuity of the margin of the upper eyelid.

Comments:

Reference:

HP:0000636

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lower eyelid coloboma (HP:0000652)

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:0000636	HP:0000636	Upper eyelid coloboma	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0000636	HP:0000636	Upper eyelid coloboma	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000636	HP:0000636	Upper eyelid coloboma	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000636	HP:0000636	Upper eyelid coloboma	0	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome	HP:0040281 - Very frequent	198
HP:0000636	HP:0000636	Upper eyelid coloboma	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0000636	HP:0000636	Upper eyelid coloboma	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000636	HP:0000636	Upper eyelid coloboma	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040283 - Occasional
HP:0000636	HP:0000636	Upper eyelid coloboma	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000636	HP:0000636	Upper eyelid coloboma	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18

Genes (9) :ALX1 CDH11 FRAS1 FREM1 POLR1A SF3B2 SLC25A24 TCOF1 TWIST1

Diseases (9) :OMIM:613456 OMIM:619736 OMIM:219000 ORPHA:2717 OMIM:616462 OMIM:164210 ORPHA:2095 OMIM:154500 OMIM:617746

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

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