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:
Abnormal ocular adnexa morphology (HP:0030669)

Parent Node:
Abnormal eyelid morphology (HP:0000492)

..Starting node
..Euryblepharon (HP:0012905)

Term ID:

12905

Name:

Euryblepharon

Synonym:

Kabuki syndrome eyelids

Definition:

Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening.

Comments:

Reference:

HP:0012905

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal eyelash morphology (HP:0000499)

Abnormal levator palpebrae superioris morphology (HP:3000072)

Abnormality of the palpebral fissures (HP:0008050)

Accessory eyelid (HP:0430008)

Ankyloblepharon (HP:0009755)

Aplasia/Hypoplasia of the eyelid (HP:0011226)

Blepharitis (HP:0000498)

Blepharospasm (HP:0000643)

Dermatochalasis (HP:0010750)

Ectropion (HP:0000656)

Entropion (HP:0000621)

Epiblepharon (HP:0011225)

Epicanthus (HP:0000286)

Erythema of the eyelids (HP:0040323)

Eyelid apraxia (HP:0000658)

Eyelid retraction (HP:0500043)

Heliotrope rash of eyelid (HP:0030845)

Hooded eyelid (HP:0030820)

Hyperpigmentation of eyelids (HP:0007406)

Lagophthalmos (HP:0030001)

Lipomas of eyelids (HP:0040164)

Microblepharia (HP:0430010)

Nodular changes affecting the eyelids (HP:0010732)

Palpebral edema (HP:0100540)

Palpebral thickening (HP:0030939)

Symblepharon (HP:0430007)

Telecanthus (HP:0000506)

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:0012905	HP:0012905	Euryblepharon	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0012905	HP:0012905	Euryblepharon	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0012905	HP:0012905	Euryblepharon	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040282 - Frequent	1003
HP:0012905	HP:0012905	Euryblepharon	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040282 - Frequent
HP:0012905	HP:0012905	Euryblepharon	0	CTNND1 CL E G H	1500	2515	OMIM:617681	Blepharocheilodontic syndrome 2	.
HP:0012905	HP:0012905	Euryblepharon	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0012905	HP:0012905	Euryblepharon	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0012905	HP:0012905	Euryblepharon	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0012905	HP:0012905	Euryblepharon	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0012905	HP:0012905	Euryblepharon	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98

Genes (9) :ACTB ACTG1 CDH1 CTNND1 DLX4 DVL1 DVL3 FZD2 WNT5A

Diseases (5) :ORPHA:2995 ORPHA:1997 OMIM:617681 OMIM:616788 ORPHA:3107

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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