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:
Epicanthus (HP:0000286)

..Starting node
..Epicanthus inversus (HP:0000537)

Term ID:

537

Name:

Epicanthus inversus

Synonym:

Definition:

A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.

Comments:

Reference:

HP:0000537

Genes and Diseases:

Child Nodes:

Sister Nodes:

Epicanthus palpebralis (HP:0031770)

Epicanthus superciliaris (HP:0025611)

Epicanthus tarsalis (HP:0031771)

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:0000537	HP:0000537	Epicanthus inversus	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000537	HP:0000537	Epicanthus inversus	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0000537	HP:0000537	Epicanthus inversus	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent	3
HP:0000537	HP:0000537	Epicanthus inversus	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0000537	HP:0000537	Epicanthus inversus	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent	9
HP:0000537	HP:0000537	Epicanthus inversus	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0000537	HP:0000537	Epicanthus inversus	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000537	HP:0000537	Epicanthus inversus	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000537	HP:0000537	Epicanthus inversus	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.	92
HP:0000537	HP:0000537	Epicanthus inversus	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040281 - Very frequent	92
HP:0000537	HP:0000537	Epicanthus inversus	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0000537	HP:0000537	Epicanthus inversus	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.	141
HP:0000537	HP:0000537	Epicanthus inversus	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040281 - Very frequent	21
HP:0000537	HP:0000537	Epicanthus inversus	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0000537	HP:0000537	Epicanthus inversus	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0000537	HP:0000537	Epicanthus inversus	0	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)	.	98
HP:0000537	HP:0000537	Epicanthus inversus	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000537	HP:0000537	Epicanthus inversus	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040281 - Very frequent	2
HP:0000537	HP:0000537	Epicanthus inversus	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis

Genes (15) :CDC42BPB COL25A1 COLEC10 COLEC11 DDB1 EBF3 FOXL2 HUWE1 KAT6B MASP1 MKS1 PEX6 PPP1R12A SIX2 ZFHX4

Diseases (16) :OMIM:619841 ORPHA:91411 ORPHA:293843 OMIM:248340 OMIM:265050 OMIM:619426 OMIM:617330 OMIM:110100 ORPHA:572333 OMIM:309590 OMIM:603736 OMIM:257920 OMIM:249000 OMIM:614862 OMIM:618820 ORPHA:488437

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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