Human Phenotype Ontology

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:0025082	HP:0025082	Abnormal cutaneous elastic fiber morphology	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0025082	HP:0025082	Abnormal cutaneous elastic fiber morphology	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0025082	HP:0025082	Abnormal cutaneous elastic fiber morphology	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0025082	HP:0025082	Abnormal cutaneous elastic fiber morphology	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0025082	HP:0025082	Abnormal cutaneous elastic fiber morphology	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0025082	HP:0025082	Abnormal cutaneous elastic fiber morphology	0	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV		2
HP:0025082	HP:0025082	Abnormal cutaneous elastic fiber morphology	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0025082	HP:0025082	Abnormal cutaneous elastic fiber morphology	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0025082	HP:0025082	Abnormal cutaneous elastic fiber morphology	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0025082	HP:0025082	Abnormal cutaneous elastic fiber morphology	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0025082	HP:0025082	Abnormal cutaneous elastic fiber morphology	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA		63
HP:0025082	HP:0025082	Abnormal cutaneous elastic fiber morphology	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0025082	HP:0025166	Thickened elastic fibers in the dermis	1	CL E G H
HP:0025082	HP:0025165	Clumping of elastic fibers in the dermis	1	CL E G H
HP:0025082	HP:0025164	Increased number of elastic fibers in the dermis	1	CL E G H
HP:0025082	HP:0025167	Fragmented elastic fibers in the dermis	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0025082	HP:0025167	Fragmented elastic fibers in the dermis	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0025082	HP:0025167	Fragmented elastic fibers in the dermis	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0025082	HP:0025167	Fragmented elastic fibers in the dermis	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0025082	HP:0025167	Fragmented elastic fibers in the dermis	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0025082	HP:0025167	Fragmented elastic fibers in the dermis	1	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV	HP:0040282 - Frequent	2
HP:0025082	HP:0025167	Fragmented elastic fibers in the dermis	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent	45
HP:0025082	HP:0025167	Fragmented elastic fibers in the dermis	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0025082	HP:0025167	Fragmented elastic fibers in the dermis	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0025082	HP:0025167	Fragmented elastic fibers in the dermis	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent	63
HP:0025082	HP:0025167	Fragmented elastic fibers in the dermis	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent