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:0010647	HP:0010647	Abnormal elasticity of skin	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis		130
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome		51
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		11
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2		19
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ALDH18A1 CL E G H	5832	9722	ORPHA:35664	ALDH18A1-related De Barsy syndrome		89
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3		89
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis		75
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis		63
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis		1
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome		5
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease		192
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2		38
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity		38
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome		29
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		15
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		7
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		373
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1		373
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		243
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria		749
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome		4
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis		54
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		65
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity		3
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FBLN5 CL E G H	10516	3602	OMIM:614434	Cutis laxa, autosomal dominant 2		63
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA		63
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME		1361
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome		1361
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome		1361
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FGF20 CL E G H	26281	3677	OMIM:615721	Renal hypodysplasia/aplasia 2		2
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans		145
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1		145
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2		145
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency		13
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked		493
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome		493
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome		63
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	GGCX CL E G H	2677	4247	ORPHA:91135	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency		129
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa		129
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia		101
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica		52
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type		53
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1		55
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3		11
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism		229
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome		13
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome		7
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2		14
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis		1
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy		645
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5		25
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma		85
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30		3
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis		60
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	OSMR CL E G H	9180	8507	OMIM:105250	Amyloidosis, primary localized cutaneous, 1		5
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria		641
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		26
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome		28
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome		51
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome		731
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome		58
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome		948
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica		53
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome		43
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome		65
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		77
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis		2
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency		122
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance		104
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome		146
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome		6
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII		2
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis		4
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia		5
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		238
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby		98
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis		98
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome		44
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		60
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1		134
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like		134
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent	4
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome		7
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III		7
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG		14
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome		397
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome		397
HP:0010647	HP:0010647	Abnormal elasticity of skin	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0010647	HP:0100679	Lack of skin elasticity	1	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	130
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0010647	HP:0100679	Lack of skin elasticity	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040281 - Very frequent	415
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0010647	HP:0000977	Soft skin	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		11
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0010647	HP:0000977	Soft skin	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0010647	HP:0100679	Lack of skin elasticity	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0010647	HP:0100679	Lack of skin elasticity	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2		19
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ALDH18A1 CL E G H	5832	9722	ORPHA:35664	ALDH18A1-related De Barsy syndrome		89
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3		89
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA		89
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0010647	HP:0100679	Lack of skin elasticity	1	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	75
HP:0010647	HP:0100679	Lack of skin elasticity	1	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	63
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0010647	HP:0100679	Lack of skin elasticity	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0010647	HP:0100679	Lack of skin elasticity	1	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	1
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0010647	HP:0000977	Soft skin	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	5
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease		192
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0010647	HP:0000977	Soft skin	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0010647	HP:0100679	Lack of skin elasticity	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0010647	HP:0000977	Soft skin	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2		38
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity		38
HP:0010647	HP:0000977	Soft skin	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome		29
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0010647	HP:0100679	Lack of skin elasticity	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0010647	HP:0000977	Soft skin	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		15
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		7
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0010647	HP:0100679	Lack of skin elasticity	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0010647	HP:0100679	Lack of skin elasticity	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0010647	HP:0000977	Soft skin	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		373
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0010647	HP:0000977	Soft skin	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0010647	HP:0100679	Lack of skin elasticity	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0010647	HP:0000977	Soft skin	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1		373
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		243
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0010647	HP:0000977	Soft skin	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0010647	HP:0000977	Soft skin	1	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.	243
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form		243
HP:0010647	HP:0000977	Soft skin	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria		749
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0010647	HP:0100679	Lack of skin elasticity	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0010647	HP:0000977	Soft skin	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0010647	HP:0000977	Soft skin	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0010647	HP:0000977	Soft skin	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0010647	HP:0100679	Lack of skin elasticity	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0010647	HP:0100679	Lack of skin elasticity	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0010647	HP:0000977	Soft skin	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0010647	HP:0000977	Soft skin	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0010647	HP:0100679	Lack of skin elasticity	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome		4
HP:0010647	HP:0100679	Lack of skin elasticity	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0010647	HP:0100679	Lack of skin elasticity	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0010647	HP:0100679	Lack of skin elasticity	1	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	54
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		65
HP:0010647	HP:0100679	Lack of skin elasticity	1	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0010647	HP:0000977	Soft skin	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome		4
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0010647	HP:0100679	Lack of skin elasticity	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent	45
HP:0010647	HP:0000977	Soft skin	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010647	HP:0000977	Soft skin	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010647	HP:0100679	Lack of skin elasticity	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040281 - Very frequent	151
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity		3
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome		81
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0010647	HP:0100679	Lack of skin elasticity	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent	63
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FBLN5 CL E G H	10516	3602	OMIM:614434	Cutis laxa, autosomal dominant 2		63
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA		63
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0010647	HP:0100679	Lack of skin elasticity	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0010647	HP:0100679	Lack of skin elasticity	1	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME		1361
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome		1361
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0010647	HP:0100679	Lack of skin elasticity	1	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040281 - Very frequent	1361
HP:0010647	HP:0100679	Lack of skin elasticity	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FGF20 CL E G H	26281	3677	OMIM:615721	Renal hypodysplasia/aplasia 2		2
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans		145
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1		145
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2		145
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0010647	HP:0000977	Soft skin	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	.	13
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency		13
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked		493
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome		493
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome		63
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	GGCX CL E G H	2677	4247	ORPHA:91135	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency		129
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa		129
HP:0010647	HP:0100679	Lack of skin elasticity	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia		101
HP:0010647	HP:0100679	Lack of skin elasticity	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica		52
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type		53
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1		55
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0010647	HP:0100679	Lack of skin elasticity	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040281 - Very frequent	113
HP:0010647	HP:0000977	Soft skin	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3		11
HP:0010647	HP:0000977	Soft skin	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism		229
HP:0010647	HP:0100679	Lack of skin elasticity	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0010647	HP:0000977	Soft skin	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	13
HP:0010647	HP:0000977	Soft skin	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	7
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0010647	HP:0000977	Soft skin	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0010647	HP:0100679	Lack of skin elasticity	1	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	1
HP:0010647	HP:0100679	Lack of skin elasticity	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0010647	HP:0100679	Lack of skin elasticity	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0010647	HP:0100679	Lack of skin elasticity	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional	645
HP:0010647	HP:0100679	Lack of skin elasticity	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0010647	HP:0000977	Soft skin	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0010647	HP:0000977	Soft skin	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0010647	HP:0000977	Soft skin	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0010647	HP:0000977	Soft skin	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010647	HP:0000977	Soft skin	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5		25
HP:0010647	HP:0000977	Soft skin	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	HP:0040283 - Occasional	85
HP:0010647	HP:0100679	Lack of skin elasticity	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30		3
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0010647	HP:0100679	Lack of skin elasticity	1	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	60
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0010647	HP:0100679	Lack of skin elasticity	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome		544
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	OSMR CL E G H	9180	8507	OMIM:105250	Amyloidosis, primary localized cutaneous, 1		5
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010647	HP:0100679	Lack of skin elasticity	1	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040283 - Occasional	641
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		26
HP:0010647	HP:0000977	Soft skin	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0010647	HP:0100679	Lack of skin elasticity	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0010647	HP:0100679	Lack of skin elasticity	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0010647	HP:0100679	Lack of skin elasticity	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0010647	HP:0100679	Lack of skin elasticity	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome		28
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0010647	HP:0000977	Soft skin	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome		51
HP:0010647	HP:0000977	Soft skin	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0010647	HP:0100679	Lack of skin elasticity	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0010647	HP:0000977	Soft skin	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040281 - Very frequent	58
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome		58
HP:0010647	HP:0100679	Lack of skin elasticity	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0010647	HP:0100679	Lack of skin elasticity	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0010647	HP:0100679	Lack of skin elasticity	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0010647	HP:0100679	Lack of skin elasticity	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0010647	HP:0100679	Lack of skin elasticity	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome		948
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0010647	HP:0100679	Lack of skin elasticity	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica		53
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0010647	HP:0000977	Soft skin	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome		43
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome		65
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		77
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0010647	HP:0100679	Lack of skin elasticity	1	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	2
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0010647	HP:0000977	Soft skin	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency		122
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance		104
HP:0010647	HP:0100679	Lack of skin elasticity	1	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0010647	HP:0100679	Lack of skin elasticity	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0010647	HP:0000977	Soft skin	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010647	HP:0100679	Lack of skin elasticity	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome		146
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0010647	HP:0100679	Lack of skin elasticity	1	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome	HP:0040281 - Very frequent	6
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0010647	HP:0000977	Soft skin	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0010647	HP:0000977	Soft skin	1	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII	.	2
HP:0010647	HP:0100679	Lack of skin elasticity	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0010647	HP:0100679	Lack of skin elasticity	1	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	4
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome		1
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia		5
HP:0010647	HP:0100679	Lack of skin elasticity	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		238
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0010647	HP:0100679	Lack of skin elasticity	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0010647	HP:0100679	Lack of skin elasticity	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0010647	HP:0000977	Soft skin	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0010647	HP:0100679	Lack of skin elasticity	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0010647	HP:0100679	Lack of skin elasticity	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0010647	HP:0000977	Soft skin	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0010647	HP:0100679	Lack of skin elasticity	1	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby	HP:0040281 - Very frequent	98
HP:0010647	HP:0100679	Lack of skin elasticity	1	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	98
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome		44
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		60
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1		134
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like		134
HP:0010647	HP:0000977	Soft skin	1	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.	134
HP:0010647	HP:0100679	Lack of skin elasticity	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0010647	HP:0100679	Lack of skin elasticity	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome		7
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III		7
HP:0010647	HP:0100679	Lack of skin elasticity	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0010647	HP:0100679	Lack of skin elasticity	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0010647	HP:0100679	Lack of skin elasticity	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0010647	HP:0100679	Lack of skin elasticity	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent	310
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0010647	HP:0000977	Soft skin	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG		14
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0010647	HP:0100679	Lack of skin elasticity	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome		397
HP:0010647	HP:0000977	Soft skin	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040281 - Very frequent	397
HP:0010647	HP:0008067	Abnormally lax or hyperextensible skin	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome		397
HP:0010647	HP:0100679	Lack of skin elasticity	1	ZNRF3 CL E