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:
Abnormal eyelid morphology (HP:0000492)

Parent Node:
Ectropion (HP:0000656)

..Starting node
..Ectropion of lower eyelids (HP:0007651)

Term ID:

7651

Name:

Ectropion of lower eyelids

Synonym:

Everted lower eyelids; Lower eyelid folded out; Lower eyelid turned out

Definition:

Comments:

Reference:

HP:0007651

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cicatricial ectropion (HP:0025608)

Eversion of lateral third of lower eyelids (HP:0007655)

Paralytic ectropion (HP:0500069)

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:0007651	HP:0007651	Ectropion of lower eyelids	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent	1003
HP:0007651	HP:0007651	Ectropion of lower eyelids	0	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	.	1003
HP:0007651	HP:0007651	Ectropion of lower eyelids	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent
HP:0007651	HP:0007651	Ectropion of lower eyelids	0	CTNND1 CL E G H	1500	2515	OMIM:617681	Blepharocheilodontic syndrome 2	.
HP:0007651	HP:0007651	Ectropion of lower eyelids	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent	59
HP:0007651	HP:0007651	Ectropion of lower eyelids	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0007651	HP:0007651	Ectropion of lower eyelids	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0007651	HP:0007651	Ectropion of lower eyelids	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM

Genes (6) :CDH1 CTNND1 DHODH DLX4 MEGF8 RNF2

Diseases (7) :ORPHA:1997 OMIM:119580 OMIM:617681 ORPHA:246 OMIM:616788 OMIM:614976 OMIM:619460

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