Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormally lax or hyperextensible skin (HP:0008067)

Parent Node:
Cutis laxa (HP:0000973)

..Starting node
..Redundant skin (HP:0001582)

Term ID:

1582

Name:

Redundant skin

Synonym:

Loose redundant skin; Redundant skin folds; Sagging, redundant skin

Definition:

Loose and sagging skin often associated with loss of skin elasticity.

Comments:

Reference:

HP:0001582

Genes and Diseases:

Child Nodes:

........

Redundant neck skin (HP:0005989)

........

Redundant skin on fingers (HP:0007516)

........

Redundant skin in infancy (HP:0007595)

Sister Nodes:

Palmoplantar cutis laxa (HP:0007517)

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:0001582	HP:0001582	Redundant skin	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0001582	HP:0001582	Redundant skin	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040281 - Very frequent
HP:0001582	HP:0001582	Redundant skin	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0001582	HP:0001582	Redundant skin	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040281 - Very frequent	89
HP:0001582	HP:0001582	Redundant skin	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0001582	HP:0001582	Redundant skin	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0001582	HP:0001582	Redundant skin	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0001582	HP:0001582	Redundant skin	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0001582	HP:0001582	Redundant skin	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0001582	HP:0001582	Redundant skin	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0001582	HP:0001582	Redundant skin	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0001582	HP:0001582	Redundant skin	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0001582	HP:0001582	Redundant skin	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0001582	HP:0001582	Redundant skin	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0001582	HP:0001582	Redundant skin	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001582	HP:0001582	Redundant skin	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001582	HP:0001582	Redundant skin	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	276
HP:0001582	HP:0001582	Redundant skin	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001582	HP:0001582	Redundant skin	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040282 - Frequent	83
HP:0001582	HP:0001582	Redundant skin	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0001582	HP:0001582	Redundant skin	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0001582	HP:0001582	Redundant skin	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent	27
HP:0001582	HP:0001582	Redundant skin	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001582	HP:0001582	Redundant skin	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0001582	HP:0001582	Redundant skin	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0001582	HP:0001582	Redundant skin	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0001582	HP:0001582	Redundant skin	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0001582	HP:0001582	Redundant skin	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001582	HP:0001582	Redundant skin	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent	13
HP:0001582	HP:0001582	Redundant skin	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	4
HP:0001582	HP:0001582	Redundant skin	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent	45
HP:0001582	HP:0001582	Redundant skin	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001582	HP:0001582	Redundant skin	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040281 - Very frequent	172
HP:0001582	HP:0001582	Redundant skin	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1	.	172
HP:0001582	HP:0001582	Redundant skin	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0001582	HP:0001582	Redundant skin	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040282 - Frequent	96
HP:0001582	HP:0001582	Redundant skin	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	81
HP:0001582	HP:0001582	Redundant skin	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040281 - Very frequent	63
HP:0001582	HP:0001582	Redundant skin	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent	63
HP:0001582	HP:0001582	Redundant skin	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0001582	HP:0001582	Redundant skin	0	FGF20 CL E G H	26281	3677	OMIM:615721	Renal hypodysplasia/aplasia 2	.	2
HP:0001582	HP:0001582	Redundant skin	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0001582	HP:0001582	Redundant skin	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.	145
HP:0001582	HP:0001582	Redundant skin	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent	145
HP:0001582	HP:0001582	Redundant skin	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040281 - Very frequent	145
HP:0001582	HP:0001582	Redundant skin	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0001582	HP:0001582	Redundant skin	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001582	HP:0001582	Redundant skin	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001582	HP:0001582	Redundant skin	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	63
HP:0001582	HP:0001582	Redundant skin	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0001582	HP:0001582	Redundant skin	0	GGCX CL E G H	2677	4247	ORPHA:91135	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	HP:0040281 - Very frequent	129
HP:0001582	HP:0001582	Redundant skin	0	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	HP:0040281 - Very frequent	129
HP:0001582	HP:0001582	Redundant skin	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	52
HP:0001582	HP:0001582	Redundant skin	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0001582	HP:0001582	Redundant skin	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001582	HP:0001582	Redundant skin	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001582	HP:0001582	Redundant skin	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001582	HP:0001582	Redundant skin	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0001582	HP:0001582	Redundant skin	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.	55
HP:0001582	HP:0001582	Redundant skin	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040281 - Very frequent	113
HP:0001582	HP:0001582	Redundant skin	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0001582	HP:0001582	Redundant skin	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0001582	HP:0001582	Redundant skin	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	196
HP:0001582	HP:0001582	Redundant skin	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001582	HP:0001582	Redundant skin	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent
HP:0001582	HP:0001582	Redundant skin	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	134
HP:0001582	HP:0001582	Redundant skin	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	178
HP:0001582	HP:0001582	Redundant skin	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0001582	HP:0001582	Redundant skin	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0001582	HP:0001582	Redundant skin	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001582	HP:0001582	Redundant skin	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001582	HP:0001582	Redundant skin	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0001582	HP:0001582	Redundant skin	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5		25
HP:0001582	HP:0001582	Redundant skin	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0001582	HP:0001582	Redundant skin	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0001582	HP:0001582	Redundant skin	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0001582	HP:0001582	Redundant skin	0	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30	.	3
HP:0001582	HP:0001582	Redundant skin	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0001582	HP:0001582	Redundant skin	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	544
HP:0001582	HP:0001582	Redundant skin	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001582	HP:0001582	Redundant skin	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0001582	HP:0001582	Redundant skin	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	51
HP:0001582	HP:0001582	Redundant skin	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent	6
HP:0001582	HP:0001582	Redundant skin	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0001582	HP:0001582	Redundant skin	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	53
HP:0001582	HP:0001582	Redundant skin	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001582	HP:0001582	Redundant skin	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.	43
HP:0001582	HP:0001582	Redundant skin	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040281 - Very frequent	43
HP:0001582	HP:0001582	Redundant skin	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent	65
HP:0001582	HP:0001582	Redundant skin	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0001582	HP:0001582	Redundant skin	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001582	HP:0001582	Redundant skin	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0001582	HP:0001582	Redundant skin	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0001582	HP:0001582	Redundant skin	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0001582	HP:0001582	Redundant skin	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0001582	HP:0001582	Redundant skin	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040283 - Occasional	122
HP:0001582	HP:0001582	Redundant skin	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001582	HP:0001582	Redundant skin	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	1
HP:0001582	HP:0001582	Redundant skin	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001582	HP:0001582	Redundant skin	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia		5
HP:0001582	HP:0001582	Redundant skin	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001582	HP:0001582	Redundant skin	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040282 - Frequent	171
HP:0001582	HP:0001582	Redundant skin	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent	7
HP:0001582	HP:0001582	Redundant skin	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0001582	HP:0001582	Redundant skin	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040281 - Very frequent	7
HP:0001582	HP:0001582	Redundant skin	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.	7
HP:0001582	HP:0001582	Redundant skin	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040281 - Very frequent	7
HP:0001582	HP:0001582	Redundant skin	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001582	HP:0001582	Redundant skin	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001582	HP:0001582	Redundant skin	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001582	HP:0001582	Redundant skin	0	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0001582	HP:0007595	Redundant skin in infancy	1	CL E G H
HP:0001582	HP:0005989	Redundant neck skin	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0001582	HP:0005989	Redundant neck skin	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0001582	HP:0005989	Redundant neck skin	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0001582	HP:0005989	Redundant neck skin	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0001582	HP:0005989	Redundant neck skin	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0001582	HP:0005989	Redundant neck skin	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0001582	HP:0005989	Redundant neck skin	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0001582	HP:0005989	Redundant neck skin	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0001582	HP:0005989	Redundant neck skin	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0001582	HP:0005989	Redundant neck skin	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0001582	HP:0005989	Redundant neck skin	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0001582	HP:0005989	Redundant neck skin	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0001582	HP:0005989	Redundant neck skin	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0001582	HP:0005989	Redundant neck skin	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0001582	HP:0005989	Redundant neck skin	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0001582	HP:0005989	Redundant neck skin	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0001582	HP:0005989	Redundant neck skin	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0001582	HP:0005989	Redundant neck skin	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0001582	HP:0005989	Redundant neck skin	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0001582	HP:0005989	Redundant neck skin	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0001582	HP:0005989	Redundant neck skin	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.	60
HP:0001582	HP:0005989	Redundant neck skin	1	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.	25
HP:0001582	HP:0005989	Redundant neck skin	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001582	HP:0005989	Redundant neck skin	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0001582	HP:0007516	Redundant skin on fingers	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0001582	HP:0005989	Redundant neck skin	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001582	HP:0005989	Redundant neck skin	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0001582	HP:0005989	Redundant neck skin	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0001582	HP:0005989	Redundant neck skin	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0001582	HP:0005989	Redundant neck skin	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0001582	HP:0005989	Redundant neck skin	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent	5
HP:0001582	HP:0005989	Redundant neck skin	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0001582	HP:0005989	Redundant neck skin	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001582	HP:0005989	Redundant neck skin	1	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27

Genes (88) :ADAMTS2 AEBP1 ALDH18A1 ALG12 ANTXR1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A B4GALT1 BAZ1B BCL7B BRAF BUD23 CD96 CDK13 CEP55 CHST14 CLIP2 COL3A1 CSPP1 DLK1 DNAJC30 DSE EED EFEMP2 EIF4H ELN EXT1 EZH2 FBLN5 FGF20 FGFR2 FGFR3 FIG4 FKBP6 FOXC1 GATA1 GGCX GORAB GPX4 GTF2I GTF2IRD1 GTF2IRD2 H1-4 HPGD HRAS KIAA0586 KRAS LIMK1 LTBP1 MAP2K1 MAP2K2 MEG3 METTL27 MLXIPL MRPS16 MRPS22 NAA10 NCF1 NDUFB10 NDUFB11 NPR2 NSD1 OTUD5 PEX1 PITX2 PTDSS1 PYCR1 RFC2 RIN2 RPS6KA3 RTL1 SH3PXD2B SLC25A24 SLC2A10 SLC6A8 STX1A SUZ12 TBL2 TBX15 TMEM270 TRPS1 TWIST2 VAC14 VPS37D WDR37 WDR81

Diseases (70) :OMIM:225410 ORPHA:536532 OMIM:618000 ORPHA:90348 ORPHA:79324 OMIM:230740 ORPHA:357074 OMIM:219200 OMIM:278250 OMIM:617403 OMIM:304150 ORPHA:79332 ORPHA:904 ORPHA:1340 ORPHA:1308 OMIM:617360 OMIM:236500 ORPHA:2953 ORPHA:286 ORPHA:397715 ORPHA:254528 ORPHA:96334 ORPHA:3447 ORPHA:90349 OMIM:123700 ORPHA:502 OMIM:219100 OMIM:615721 OMIM:123790 OMIM:616482 ORPHA:1860 ORPHA:93274 OMIM:216340 ORPHA:3472 ORPHA:782 OMIM:190685 ORPHA:91135 ORPHA:436274 ORPHA:2078 OMIM:250220 OMIM:617537 OMIM:259100 ORPHA:3071 OMIM:218040 OMIM:610498 OMIM:611719 OMIM:300855 OMIM:619003 OMIM:301021 OMIM:602875 OMIM:301056 OMIM:214100 ORPHA:2658 OMIM:612940 OMIM:613075 ORPHA:217335 ORPHA:192 OMIM:249420 OMIM:612289 ORPHA:2963 ORPHA:3342 ORPHA:52503 ORPHA:93333 ORPHA:920 OMIM:200110 ORPHA:1231 OMIM:209885 ORPHA:1807 OMIM:618652 OMIM:617967

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen