Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the skin (HP:0000951)help
Parent Node:
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Abnormality of skin morphology (HP:0011121)help
..Starting node
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Abnormal elasticity of skin (HP:0010647)help
Term ID: 10647
Name: Abnormal elasticity of skin
Synonym:
Definition: Any abnormal increase or reduction in skin elasticity.
Comments:
Reference: HP:0010647
Genes and Diseases:
 
       Child Nodes:
........expandSoft skin (HP:0000977) help
................... HP:0001027 Soft, doughy skin
........expandAbnormally lax or hyperextensible skin (HP:0008067) help
................... HP:0000973 Cutis laxa
................... HP:0000974 Hyperextensible skin
................... HP:0007392 Excessive wrinkled skin
................... HP:0007522 Increased number of skin folds
................... HP:0025087 Delayed recoil upon stretching of skin
................... HP:0025182 Localized area of pendulous skin
........expandLack of skin elasticity (HP:0100679) help
................... HP:0001065 Striae distensae

 Sister Nodes: 
..expandAbnormal blistering of the skin (HP:0008066) help
..expandAbnormal cutaneous collagen fibril morphology (HP:0031512) help
..expandAbnormal cutaneous elastic fiber morphology (HP:0025082) help
..expandAbnormal dermoepidermal junction morphology (HP:0031538) help
..expandAbnormal epidermal morphology (HP:0011124) help
..expandAbnormality of skin pigmentation (HP:0001000) help
..expandDermal translucency (HP:0010648) help
..expandDry skin (HP:0000958) help
..expandElevated dermal desmosine content (HP:0025083) help
..expandGeneralized abnormality of skin (HP:0011354) help
..expandLichenification (HP:0100725) help
..expandLocalized skin lesion (HP:0011355) help
..expandOchronosis (HP:0030764) help
..expandPallor (HP:0000980) help
..expandPoikiloderma (HP:0001029) help
..expandRegional abnormality of skin (HP:0011356) help
..expandStiff skin (HP:0030053) help
..expandThickened skin (HP:0001072) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010647HP:0010647Abnormal elasticity of skin0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0010647HP:0010647Abnormal elasticity of skin0ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosis130
HP:0010647HP:0010647Abnormal elasticity of skin0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticum415
HP:0010647HP:0010647Abnormal elasticity of skin0ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0010647HP:0010647Abnormal elasticity of skin0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome51
HP:0010647HP:0010647Abnormal elasticity of skin0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndrome11
HP:0010647HP:0010647Abnormal elasticity of skin0ADAMTS2 CL E G H9509218ORPHA:1901Dermatosparaxis Ehlers-Danlos syndrome165
HP:0010647HP:0010647Abnormal elasticity of skin0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive165
HP:0010647HP:0010647Abnormal elasticity of skin0ADAMTSL2 CL E G H971914631ORPHA:1901Dermatosparaxis Ehlers-Danlos syndrome72
HP:0010647HP:0010647Abnormal elasticity of skin0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 172
HP:0010647HP:0010647Abnormal elasticity of skin0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0010647HP:0010647Abnormal elasticity of skin0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2
HP:0010647HP:0010647Abnormal elasticity of skin0AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic95
HP:0010647HP:0010647Abnormal elasticity of skin0AKT3 CL E G H10000393OMIM:615937Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 219
HP:0010647HP:0010647Abnormal elasticity of skin0ALDH18A1 CL E G H58329722ORPHA:35664ALDH18A1-related De Barsy syndrome89
HP:0010647HP:0010647Abnormal elasticity of skin0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0010647HP:0010647Abnormal elasticity of skin0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 389
HP:0010647HP:0010647Abnormal elasticity of skin0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA89
HP:0010647HP:0010647Abnormal elasticity of skin0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0010647HP:0010647Abnormal elasticity of skin0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDG46
HP:0010647HP:0010647Abnormal elasticity of skin0ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosis75
HP:0010647HP:0010647Abnormal elasticity of skin0ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosis63
HP:0010647HP:0010647Abnormal elasticity of skin0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome8
HP:0010647HP:0010647Abnormal elasticity of skin0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndrome8
HP:0010647HP:0010647Abnormal elasticity of skin0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0010647HP:0010647Abnormal elasticity of skin0ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosis1
HP:0010647HP:0010647Abnormal elasticity of skin0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0010647HP:0010647Abnormal elasticity of skin0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0010647HP:0010647Abnormal elasticity of skin0ATP6AP2 CL E G H1015918305OMIM:301045CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R36
HP:0010647HP:0010647Abnormal elasticity of skin0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic type140
HP:0010647HP:0010647Abnormal elasticity of skin0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA140
HP:0010647HP:0010647Abnormal elasticity of skin0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndrome140
HP:0010647HP:0010647Abnormal elasticity of skin0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0010647HP:0010647Abnormal elasticity of skin0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic type3
HP:0010647HP:0010647Abnormal elasticity of skin0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID3
HP:0010647HP:0010647Abnormal elasticity of skin0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0010647HP:0010647Abnormal elasticity of skin0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic type2
HP:0010647HP:0010647Abnormal elasticity of skin0ATP7A CL E G H538869ORPHA:565Menkes disease192
HP:0010647HP:0010647Abnormal elasticity of skin0ATP7A CL E G H538869OMIM:309400Menkes disease192
HP:0010647HP:0010647Abnormal elasticity of skin0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome192
HP:0010647HP:0010647Abnormal elasticity of skin0ATP7A CL E G H538869ORPHA:198Occipital horn syndrome192
HP:0010647HP:0010647Abnormal elasticity of skin0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0010647HP:0010647Abnormal elasticity of skin0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0010647HP:0010647Abnormal elasticity of skin0B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 238
HP:0010647HP:0010647Abnormal elasticity of skin0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity38
HP:0010647HP:0010647Abnormal elasticity of skin0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0010647HP:0010647Abnormal elasticity of skin0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0010647HP:0010647Abnormal elasticity of skin0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0010647HP:0010647Abnormal elasticity of skin0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome29
HP:0010647HP:0010647Abnormal elasticity of skin0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0010647HP:0010647Abnormal elasticity of skin0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 493
HP:0010647HP:0010647Abnormal elasticity of skin0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0010647HP:0010647Abnormal elasticity of skin0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0010647HP:0010647Abnormal elasticity of skin0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentigines276
HP:0010647HP:0010647Abnormal elasticity of skin0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 115
HP:0010647HP:0010647Abnormal elasticity of skin0C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndrome15
HP:0010647HP:0010647Abnormal elasticity of skin0C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndrome7
HP:0010647HP:0010647Abnormal elasticity of skin0CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0010647HP:0010647Abnormal elasticity of skin0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0010647HP:0010647Abnormal elasticity of skin0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0010647HP:0010647Abnormal elasticity of skin0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0010647HP:0010647Abnormal elasticity of skin0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0010647HP:0010647Abnormal elasticity of skin0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0010647HP:0010647Abnormal elasticity of skin0CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0010647HP:0010647Abnormal elasticity of skin0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0010647HP:0010647Abnormal elasticity of skin0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0010647HP:0010647Abnormal elasticity of skin0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0010647HP:0010647Abnormal elasticity of skin0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0010647HP:0010647Abnormal elasticity of skin0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndrome65
HP:0010647HP:0010647Abnormal elasticity of skin0COL1A1 CL E G H12772197ORPHA:1899Arthrochalasia Ehlers-Danlos syndrome373
HP:0010647HP:0010647Abnormal elasticity of skin0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0010647HP:0010647Abnormal elasticity of skin0COL1A1 CL E G H12772197OMIM:619115COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1373
HP:0010647HP:0010647Abnormal elasticity of skin0COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1373
HP:0010647HP:0010647Abnormal elasticity of skin0COL1A2 CL E G H12782198ORPHA:1899Arthrochalasia Ehlers-Danlos syndrome243
HP:0010647HP:0010647Abnormal elasticity of skin0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0010647HP:0010647Abnormal elasticity of skin0COL1A2 CL E G H12782198OMIM:619120COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2243
HP:0010647HP:0010647Abnormal elasticity of skin0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2243
HP:0010647HP:0010647Abnormal elasticity of skin0COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form243
HP:0010647HP:0010647Abnormal elasticity of skin0COL3A1 CL E G H12812201ORPHA:2500Acrogeria749
HP:0010647HP:0010647Abnormal elasticity of skin0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0010647HP:0010647Abnormal elasticity of skin0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0010647HP:0010647Abnormal elasticity of skin0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0010647HP:0010647Abnormal elasticity of skin0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0010647HP:0010647Abnormal elasticity of skin0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0010647HP:0010647Abnormal elasticity of skin0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0010647HP:0010647Abnormal elasticity of skin0COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0010647HP:0010647Abnormal elasticity of skin0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0010647HP:0010647Abnormal elasticity of skin0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0010647HP:0010647Abnormal elasticity of skin0CSTA CL E G H14752481ORPHA:263534Acral peeling skin syndrome4
HP:0010647HP:0010647Abnormal elasticity of skin0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0010647HP:0010647Abnormal elasticity of skin0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0010647HP:0010647Abnormal elasticity of skin0CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosis54
HP:0010647HP:0010647Abnormal elasticity of skin0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndrome65
HP:0010647HP:0010647Abnormal elasticity of skin0DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0010647HP:0010647Abnormal elasticity of skin0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0010647HP:0010647Abnormal elasticity of skin0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0010647HP:0010647Abnormal elasticity of skin0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0010647HP:0010647Abnormal elasticity of skin0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0010647HP:0010647Abnormal elasticity of skin0EED CL E G H87263188ORPHA:3447Weaver syndrome4
HP:0010647HP:0010647Abnormal elasticity of skin0EFEMP2 CL E G H300083219ORPHA:90349Autosomal recessive cutis laxa type 145
HP:0010647HP:0010647Abnormal elasticity of skin0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB45
HP:0010647HP:0010647Abnormal elasticity of skin0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutation223
HP:0010647HP:0010647Abnormal elasticity of skin0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0010647HP:0010647Abnormal elasticity of skin0ELN CL E G H20063327OMIM:123700Cutis laxa, autosomal dominant 1172
HP:0010647HP:0010647Abnormal elasticity of skin0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0010647HP:0010647Abnormal elasticity of skin0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0010647HP:0010647Abnormal elasticity of skin0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticum151
HP:0010647HP:0010647Abnormal elasticity of skin0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity3
HP:0010647HP:0010647Abnormal elasticity of skin0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 296
HP:0010647HP:0010647Abnormal elasticity of skin0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0010647HP:0010647Abnormal elasticity of skin0EZH2 CL E G H21463527ORPHA:3447Weaver syndrome81
HP:0010647HP:0010647Abnormal elasticity of skin0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0010647HP:0010647Abnormal elasticity of skin0FBLN5 CL E G H105163602ORPHA:90349Autosomal recessive cutis laxa type 163
HP:0010647HP:0010647Abnormal elasticity of skin0FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0010647HP:0010647Abnormal elasticity of skin0FBLN5 CL E G H105163602OMIM:614434Cutis laxa, autosomal dominant 263
HP:0010647HP:0010647Abnormal elasticity of skin0FBLN5 CL E G H105163602OMIM:219100Cutis laxa, autosomal recessive, type IA63
HP:0010647HP:0010647Abnormal elasticity of skin0FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 363
HP:0010647HP:0010647Abnormal elasticity of skin0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0010647HP:0010647Abnormal elasticity of skin0FBN1 CL E G H22003603OMIM:604308MASS SYNDROME1361
HP:0010647HP:0010647Abnormal elasticity of skin0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndrome1361
HP:0010647HP:0010647Abnormal elasticity of skin0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndrome1361
HP:0010647HP:0010647Abnormal elasticity of skin0FBN1 CL E G H22003603ORPHA:2833Stiff skin syndrome1361
HP:0010647HP:0010647Abnormal elasticity of skin0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0010647HP:0010647Abnormal elasticity of skin0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndrome62
HP:0010647HP:0010647Abnormal elasticity of skin0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0010647HP:0010647Abnormal elasticity of skin0FGF20 CL E G H262813677OMIM:615721Renal hypodysplasia/aplasia 22
HP:0010647HP:0010647Abnormal elasticity of skin0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0010647HP:0010647Abnormal elasticity of skin0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0010647HP:0010647Abnormal elasticity of skin0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans145
HP:0010647HP:0010647Abnormal elasticity of skin0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0010647HP:0010647Abnormal elasticity of skin0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1145
HP:0010647HP:0010647Abnormal elasticity of skin0FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2145
HP:0010647HP:0010647Abnormal elasticity of skin0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0010647HP:0010647Abnormal elasticity of skin0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010647HP:0010647Abnormal elasticity of skin0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0010647HP:0010647Abnormal elasticity of skin0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency13
HP:0010647HP:0010647Abnormal elasticity of skin0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0FLNA CL E G H23163754OMIM:314400Cardiac valvular dysplasia, X-linked493
HP:0010647HP:0010647Abnormal elasticity of skin0FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0010647HP:0010647Abnormal elasticity of skin0FLNA CL E G H23163754ORPHA:75497X-linked Ehlers-Danlos syndrome493
HP:0010647HP:0010647Abnormal elasticity of skin0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndrome63
HP:0010647HP:0010647Abnormal elasticity of skin0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0010647HP:0010647Abnormal elasticity of skin0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0GGCX CL E G H26774247ORPHA:91135Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency129
HP:0010647HP:0010647Abnormal elasticity of skin0GGCX CL E G H26774247OMIM:610842PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY129
HP:0010647HP:0010647Abnormal elasticity of skin0GGCX CL E G H26774247ORPHA:436274Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa129
HP:0010647HP:0010647Abnormal elasticity of skin0GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia101
HP:0010647HP:0010647Abnormal elasticity of skin0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0010647HP:0010647Abnormal elasticity of skin0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010647HP:0010647Abnormal elasticity of skin0GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplastica52
HP:0010647HP:0010647Abnormal elasticity of skin0GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum52
HP:0010647HP:0010647Abnormal elasticity of skin0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0010647HP:0010647Abnormal elasticity of skin0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0010647HP:0010647Abnormal elasticity of skin0GSN CL E G H29344620OMIM:105120Amyloidosis, Finnish type53
HP:0010647HP:0010647Abnormal elasticity of skin0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0010647HP:0010647Abnormal elasticity of skin0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0010647HP:0010647Abnormal elasticity of skin0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0010647HP:0010647Abnormal elasticity of skin0H1-4 CL E G H30084718OMIM:617537Rahman syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0H4C5 CL E G H83674790OMIM:619950
HP:0010647HP:0010647Abnormal elasticity of skin0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 155
HP:0010647HP:0010647Abnormal elasticity of skin0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0010647HP:0010647Abnormal elasticity of skin0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0010647HP:0010647Abnormal elasticity of skin0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0010647HP:0010647Abnormal elasticity of skin0IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 311
HP:0010647HP:0010647Abnormal elasticity of skin0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA18
HP:0010647HP:0010647Abnormal elasticity of skin0INSR CL E G H36436091ORPHA:508Leprechaunism229
HP:0010647HP:0010647Abnormal elasticity of skin0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndrome13
HP:0010647HP:0010647Abnormal elasticity of skin0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndrome7
HP:0010647HP:0010647Abnormal elasticity of skin0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0010647HP:0010647Abnormal elasticity of skin0KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 214
HP:0010647HP:0010647Abnormal elasticity of skin0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutation99
HP:0010647HP:0010647Abnormal elasticity of skin0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0010647HP:0010647Abnormal elasticity of skin0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosis1
HP:0010647HP:0010647Abnormal elasticity of skin0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0010647HP:0010647Abnormal elasticity of skin0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0010647HP:0010647Abnormal elasticity of skin0LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy645
HP:0010647HP:0010647Abnormal elasticity of skin0LTBP1 CL E G H40526714ORPHA:90349Autosomal recessive cutis laxa type 1
HP:0010647HP:0010647Abnormal elasticity of skin0LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0010647HP:0010647Abnormal elasticity of skin0LTBP4 CL E G H84256717OMIM:613177Cutis laxa, autosomal recessive, type IC92
HP:0010647HP:0010647Abnormal elasticity of skin0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0010647HP:0010647Abnormal elasticity of skin0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0010647HP:0010647Abnormal elasticity of skin0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0010647HP:0010647Abnormal elasticity of skin0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0010647HP:0010647Abnormal elasticity of skin0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0010647HP:0010647Abnormal elasticity of skin0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0010647HP:0010647Abnormal elasticity of skin0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0010647HP:0010647Abnormal elasticity of skin0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0010647HP:0010647Abnormal elasticity of skin0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0010647HP:0010647Abnormal elasticity of skin0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbs4
HP:0010647HP:0010647Abnormal elasticity of skin0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0010647HP:0010647Abnormal elasticity of skin0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0010647HP:0010647Abnormal elasticity of skin0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0010647HP:0010647Abnormal elasticity of skin0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0010647HP:0010647Abnormal elasticity of skin0MGP CL E G H42567060ORPHA:85202Keutel syndrome33
HP:0010647HP:0010647Abnormal elasticity of skin0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0010647HP:0010647Abnormal elasticity of skin0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0010647HP:0010647Abnormal elasticity of skin0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0010647HP:0010647Abnormal elasticity of skin0MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0010647HP:0010647Abnormal elasticity of skin0MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0010647HP:0010647Abnormal elasticity of skin0MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 525
HP:0010647HP:0010647Abnormal elasticity of skin0MTAP CL E G H45077413OMIM:112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma85
HP:0010647HP:0010647Abnormal elasticity of skin0MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophy
HP:0010647HP:0010647Abnormal elasticity of skin0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0010647HP:0010647Abnormal elasticity of skin0NAA10 CL E G H826018704ORPHA:276432Ogden syndrome23
HP:0010647HP:0010647Abnormal elasticity of skin0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly25
HP:0010647HP:0010647Abnormal elasticity of skin0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0010647HP:0010647Abnormal elasticity of skin0NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0010647HP:0010647Abnormal elasticity of skin0NDUFB11 CL E G H5453920372OMIM:301021Mitochondrial complex I deficiency, nuclear type 303
HP:0010647HP:0010647Abnormal elasticity of skin0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0010647HP:0010647Abnormal elasticity of skin0NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosis60
HP:0010647HP:0010647Abnormal elasticity of skin0NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type53
HP:0010647HP:0010647Abnormal elasticity of skin0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0010647HP:0010647Abnormal elasticity of skin0NSD1 CL E G H6432414234ORPHA:3447Weaver syndrome544
HP:0010647HP:0010647Abnormal elasticity of skin0OSMR CL E G H91808507OMIM:105250Amyloidosis, primary localized cutaneous, 15
HP:0010647HP:0010647Abnormal elasticity of skin0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010647HP:0010647Abnormal elasticity of skin0PAH CL E G H50538582ORPHA:79254Classic phenylketonuria641
HP:0010647HP:0010647Abnormal elasticity of skin0PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndrome26
HP:0010647HP:0010647Abnormal elasticity of skin0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0010647HP:0010647Abnormal elasticity of skin0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0010647HP:0010647Abnormal elasticity of skin0PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 213
HP:0010647HP:0010647Abnormal elasticity of skin0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0010647HP:0010647Abnormal elasticity of skin0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0010647HP:0010647Abnormal elasticity of skin0PDGFRB CL E G H51598804OMIM:616592Kosaki overgrowth syndrome28
HP:0010647HP:0010647Abnormal elasticity of skin0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0010647HP:0010647Abnormal elasticity of skin0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0010647HP:0010647Abnormal elasticity of skin0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndrome43
HP:0010647HP:0010647Abnormal elasticity of skin0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndrome51
HP:0010647HP:0010647Abnormal elasticity of skin0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0010647HP:0010647Abnormal elasticity of skin0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency105
HP:0010647HP:0010647Abnormal elasticity of skin0POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome731
HP:0010647HP:0010647Abnormal elasticity of skin0PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndrome58
HP:0010647HP:0010647Abnormal elasticity of skin0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0010647HP:0010647Abnormal elasticity of skin0PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0010647HP:0010647Abnormal elasticity of skin0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0010647HP:0010647Abnormal elasticity of skin0PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1134
HP:0010647HP:0010647Abnormal elasticity of skin0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0010647HP:0010647Abnormal elasticity of skin0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfism6
HP:0010647HP:0010647Abnormal elasticity of skin0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism6
HP:0010647HP:0010647Abnormal elasticity of skin0PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome948
HP:0010647HP:0010647Abnormal elasticity of skin0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentigines291
HP:0010647HP:0010647Abnormal elasticity of skin0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0010647HP:0010647Abnormal elasticity of skin0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB53
HP:0010647HP:0010647Abnormal elasticity of skin0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB53
HP:0010647HP:0010647Abnormal elasticity of skin0PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplastica53
HP:0010647HP:0010647Abnormal elasticity of skin0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentigines212
HP:0010647HP:0010647Abnormal elasticity of skin0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0010647HP:0010647Abnormal elasticity of skin0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndrome43
HP:0010647HP:0010647Abnormal elasticity of skin0RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0010647HP:0010647Abnormal elasticity of skin0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndrome65
HP:0010647HP:0010647Abnormal elasticity of skin0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome65
HP:0010647HP:0010647Abnormal elasticity of skin0RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndrome77
HP:0010647HP:0010647Abnormal elasticity of skin0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0010647HP:0010647Abnormal elasticity of skin0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0010647HP:0010647Abnormal elasticity of skin0SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosis2
HP:0010647HP:0010647Abnormal elasticity of skin0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0010647HP:0010647Abnormal elasticity of skin0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0010647HP:0010647Abnormal elasticity of skin0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0010647HP:0010647Abnormal elasticity of skin0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndrome150
HP:0010647HP:0010647Abnormal elasticity of skin0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty type
HP:0010647HP:0010647Abnormal elasticity of skin0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0010647HP:0010647Abnormal elasticity of skin0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome178
HP:0010647HP:0010647Abnormal elasticity of skin0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0010647HP:0010647Abnormal elasticity of skin0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0010647HP:0010647Abnormal elasticity of skin0SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome24
HP:0010647HP:0010647Abnormal elasticity of skin0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiency122
HP:0010647HP:0010647Abnormal elasticity of skin0SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance104
HP:0010647HP:0010647Abnormal elasticity of skin0SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0010647HP:0010647Abnormal elasticity of skin0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndrome260
HP:0010647HP:0010647Abnormal elasticity of skin0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0010647HP:0010647Abnormal elasticity of skin0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndrome146
HP:0010647HP:0010647Abnormal elasticity of skin0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0010647HP:0010647Abnormal elasticity of skin0SMARCAD1 CL E G H5691618398ORPHA:384Huriez syndrome6
HP:0010647HP:0010647Abnormal elasticity of skin0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0010647HP:0010647Abnormal elasticity of skin0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0010647HP:0010647Abnormal elasticity of skin0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0010647HP:0010647Abnormal elasticity of skin0SPARC CL E G H667811219OMIM:616507Osteogenesis imperfecta, type XVII2
HP:0010647HP:0010647Abnormal elasticity of skin0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0010647HP:0010647Abnormal elasticity of skin0SPINT2 CL E G H1065311247OMIM:270420Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies6
HP:0010647HP:0010647Abnormal elasticity of skin0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ80
HP:0010647HP:0010647Abnormal elasticity of skin0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosis4
HP:0010647HP:0010647Abnormal elasticity of skin0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndrome1
HP:0010647HP:0010647Abnormal elasticity of skin0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndrome22
HP:0010647HP:0010647Abnormal elasticity of skin0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasia5
HP:0010647HP:0010647Abnormal elasticity of skin0TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0010647HP:0010647Abnormal elasticity of skin0TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndrome238
HP:0010647HP:0010647Abnormal elasticity of skin0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0010647HP:0010647Abnormal elasticity of skin0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndrome239
HP:0010647HP:0010647Abnormal elasticity of skin0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0010647HP:0010647Abnormal elasticity of skin0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndrome253
HP:0010647HP:0010647Abnormal elasticity of skin0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0010647HP:0010647Abnormal elasticity of skin0TGM1 CL E G H705111777ORPHA:281127Acral self-healing collodion baby98
HP:0010647HP:0010647Abnormal elasticity of skin0TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosis98
HP:0010647HP:0010647Abnormal elasticity of skin0TGM5 CL E G H933311781ORPHA:263534Acral peeling skin syndrome44
HP:0010647HP:0010647Abnormal elasticity of skin0TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndrome60
HP:0010647HP:0010647Abnormal elasticity of skin0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0TNXB CL E G H714811976ORPHA:230839Classical-like Ehlers-Danlos syndrome type 1134
HP:0010647HP:0010647Abnormal elasticity of skin0TNXB CL E G H714811976OMIM:606408Ehlers-Danlos syndrome, classic-like134
HP:0010647HP:0010647Abnormal elasticity of skin0TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0010647HP:0010647Abnormal elasticity of skin0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0010647HP:0010647Abnormal elasticity of skin0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeHP:0040282 - Frequent4
HP:0010647HP:0010647Abnormal elasticity of skin0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2171
HP:0010647HP:0010647Abnormal elasticity of skin0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbs14
HP:0010647HP:0010647Abnormal elasticity of skin0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndrome7
HP:0010647HP:0010647Abnormal elasticity of skin0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0010647HP:0010647Abnormal elasticity of skin0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0010647HP:0010647Abnormal elasticity of skin0TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndrome7
HP:0010647HP:0010647Abnormal elasticity of skin0TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type III7
HP:0010647HP:0010647Abnormal elasticity of skin0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0010647HP:0010647Abnormal elasticity of skin0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0010647HP:0010647Abnormal elasticity of skin0USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic7
HP:0010647HP:0010647Abnormal elasticity of skin0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010647HP:0010647Abnormal elasticity of skin0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0010647HP:0010647Abnormal elasticity of skin0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 495
HP:0010647HP:0010647Abnormal elasticity of skin0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0010647HP:0010647Abnormal elasticity of skin0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0010647HP:0010647Abnormal elasticity of skin0WDR81 CL E G H12499726600OMIM:617967Hydrocephalus, congenital, 3, with brain anomalies27
HP:0010647HP:0010647Abnormal elasticity of skin0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0010647HP:0010647Abnormal elasticity of skin0WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0010647HP:0010647Abnormal elasticity of skin0XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0010647HP:0010647Abnormal elasticity of skin0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDG14
HP:0010647HP:0010647Abnormal elasticity of skin0XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0010647HP:0010647Abnormal elasticity of skin0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndrome5
HP:0010647HP:0010647Abnormal elasticity of skin0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0010647HP:0010647Abnormal elasticity of skin0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0010647HP:0010647Abnormal elasticity of skin0ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndrome397
HP:0010647HP:0010647Abnormal elasticity of skin0ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome397
HP:0010647HP:0010647Abnormal elasticity of skin0ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinoma
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0010647HP:0100679Lack of skin elasticity1ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent130
HP:0010647HP:0100679Lack of skin elasticity1ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040281 - Very frequent415
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticum415
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0010647HP:0000977Soft skin1ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome.51
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndrome11
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ADAMTS2 CL E G H9509218ORPHA:1901Dermatosparaxis Ehlers-Danlos syndrome165
HP:0010647HP:0000977Soft skin1ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive165
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive165
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ADAMTSL2 CL E G H971914631ORPHA:1901Dermatosparaxis Ehlers-Danlos syndrome72
HP:0010647HP:0100679Lack of skin elasticity1ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 1.72
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2
HP:0010647HP:0100679Lack of skin elasticity1AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic95
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1AKT3 CL E G H10000393OMIM:615937Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 219
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ALDH18A1 CL E G H58329722ORPHA:35664ALDH18A1-related De Barsy syndrome89
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 389
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA89
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ALG8 CL E G H7905323161ORPHA:79325ALG8-CDG46
HP:0010647HP:0100679Lack of skin elasticity1ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent75
HP:0010647HP:0100679Lack of skin elasticity1ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent63
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndrome8
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome8
HP:0010647HP:0100679Lack of skin elasticity1ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0010647HP:0100679Lack of skin elasticity1ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent1
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ATP6AP2 CL E G H1015918305OMIM:301045CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R36
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic type140
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA140
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndrome140
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic type3
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID3
HP:0010647HP:0000977Soft skin1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic type2
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ATP7A CL E G H538869ORPHA:565Menkes disease192
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ATP7A CL E G H538869OMIM:309400Menkes disease192
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ATP7A CL E G H538869OMIM:304150Occipital horn syndrome192
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ATP7A CL E G H538869ORPHA:198Occipital horn syndrome192
HP:0010647HP:0000977Soft skin1ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0010647HP:0100679Lack of skin elasticity1ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0010647HP:0000977Soft skin1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 238
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity38
HP:0010647HP:0000977Soft skin1B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome29
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 493
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0010647HP:0100679Lack of skin elasticity1BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentigines276
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0010647HP:0000977Soft skin1C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 115
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndrome15
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndrome7
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0010647HP:0100679Lack of skin elasticity1CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0010647HP:0100679Lack of skin elasticity1CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0010647HP:0000977Soft skin1COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndrome65
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL1A1 CL E G H12772197ORPHA:1899Arthrochalasia Ehlers-Danlos syndrome373
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0010647HP:0100679Lack of skin elasticity1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0010647HP:0000977Soft skin1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL1A1 CL E G H12772197OMIM:619115COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1373
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1373
HP:0010647HP:0000977Soft skin1COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1.373
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL1A2 CL E G H12782198ORPHA:1899Arthrochalasia Ehlers-Danlos syndrome243
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0010647HP:0000977Soft skin1COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL1A2 CL E G H12782198OMIM:619120COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2243
HP:0010647HP:0000977Soft skin1COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2.243
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2243
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form243
HP:0010647HP:0000977Soft skin1COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form.243
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL3A1 CL E G H12812201ORPHA:2500Acrogeria749
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0010647HP:0000977Soft skin1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0010647HP:0100679Lack of skin elasticity1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0010647HP:0000977Soft skin1COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0010647HP:0100679Lack of skin elasticity1COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0010647HP:0000977Soft skin1COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0010647HP:0000977Soft skin1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0010647HP:0100679Lack of skin elasticity1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0010647HP:0000977Soft skin1COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1COL5A2 CL E G H12902210OMIM:130010Ehlers-Danlos syndrome, classic type, 2325
HP:0010647HP:0100679Lack of skin elasticity1COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1CSTA CL E G H14752481ORPHA:263534Acral peeling skin syndrome4
HP:0010647HP:0100679Lack of skin elasticity1CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0010647HP:0100679Lack of skin elasticity1CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0010647HP:0100679Lack of skin elasticity1CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent54
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndrome65
HP:0010647HP:0100679Lack of skin elasticity1DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0010647HP:0000977Soft skin1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1EED CL E G H87263188ORPHA:3447Weaver syndrome4
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1EFEMP2 CL E G H300083219ORPHA:90349Autosomal recessive cutis laxa type 145
HP:0010647HP:0100679Lack of skin elasticity1EFEMP2 CL E G H300083219ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040281 - Very frequent45
HP:0010647HP:0000977Soft skin1EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB.45
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB45
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutation223
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ELN CL E G H20063327OMIM:123700Cutis laxa, autosomal dominant 1172
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0010647HP:0000977Soft skin1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0010647HP:0100679Lack of skin elasticity1ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040281 - Very frequent151
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticum151
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity3
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 296
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1EZH2 CL E G H21463527ORPHA:3447Weaver syndrome81
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0010647HP:0100679Lack of skin elasticity1FBLN5 CL E G H105163602ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040281 - Very frequent63
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FBLN5 CL E G H105163602ORPHA:90349Autosomal recessive cutis laxa type 163
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FBLN5 CL E G H105163602OMIM:614434Cutis laxa, autosomal dominant 263
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FBLN5 CL E G H105163602OMIM:219100Cutis laxa, autosomal recessive, type IA63
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 363
HP:0010647HP:0100679Lack of skin elasticity1FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0010647HP:0100679Lack of skin elasticity1FBN1 CL E G H22003603OMIM:604308MASS SYNDROME1361
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndrome1361
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndrome1361
HP:0010647HP:0100679Lack of skin elasticity1FBN1 CL E G H22003603ORPHA:2833Stiff skin syndromeHP:0040281 - Very frequent1361
HP:0010647HP:0100679Lack of skin elasticity1FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndrome62
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FGF20 CL E G H262813677OMIM:615721Renal hypodysplasia/aplasia 22
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans145
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1145
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2145
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0010647HP:0000977Soft skin1FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 2.13
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency13
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FLNA CL E G H23163754OMIM:314400Cardiac valvular dysplasia, X-linked493
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FLNA CL E G H23163754ORPHA:75497X-linked Ehlers-Danlos syndrome493
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndrome63
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1GGCX CL E G H26774247ORPHA:91135Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency129
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1GGCX CL E G H26774247OMIM:610842PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY129
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1GGCX CL E G H26774247ORPHA:436274Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa129
HP:0010647HP:0100679Lack of skin elasticity1GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia101
HP:0010647HP:0100679Lack of skin elasticity1GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplastica52
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum52
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1GSN CL E G H29344620OMIM:105120Amyloidosis, Finnish type53
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1H1-4 CL E G H30084718OMIM:617537Rahman syndrome
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1H4C5 CL E G H83674790OMIM:619950
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 155
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0010647HP:0100679Lack of skin elasticity1HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040281 - Very frequent113
HP:0010647HP:0000977Soft skin1IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndrome
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndrome
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 311
HP:0010647HP:0000977Soft skin1INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA18
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1INSR CL E G H36436091ORPHA:508Leprechaunism229
HP:0010647HP:0100679Lack of skin elasticity1IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndrome
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0010647HP:0000977Soft skin1KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0010647HP:0000977Soft skin1KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0010647HP:0000977Soft skin1KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 2.14
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutation99
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0010647HP:0100679Lack of skin elasticity1LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent1
HP:0010647HP:0100679Lack of skin elasticity1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0010647HP:0100679Lack of skin elasticity1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0010647HP:0100679Lack of skin elasticity1LMNA CL E G H40006636ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040283 - Occasional645
HP:0010647HP:0100679Lack of skin elasticity1LTBP1 CL E G H40526714ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040281 - Very frequent
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1LTBP1 CL E G H40526714ORPHA:90349Autosomal recessive cutis laxa type 1
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1LTBP4 CL E G H84256717OMIM:613177Cutis laxa, autosomal recessive, type IC92
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0010647HP:0000977Soft skin1MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0010647HP:0000977Soft skin1MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbs4
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0010647HP:0000977Soft skin1MGP CL E G H42567060ORPHA:85202Keutel syndrome33
HP:0010647HP:0000977Soft skin1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0010647HP:0000977Soft skin1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 525
HP:0010647HP:0000977Soft skin1MTAP CL E G H45077413OMIM:112250Diaphyseal medullary stenosis with malignant fibrous histiocytomaHP:0040283 - Occasional85
HP:0010647HP:0100679Lack of skin elasticity1MTX2 CL E G H106517506ORPHA:90153Mandibuloacral dysplasia with type A lipodystrophyHP:0040283 - Occasional
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1NAA10 CL E G H826018704ORPHA:276432Ogden syndrome23
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly25
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1NDUFB11 CL E G H5453920372OMIM:301021Mitochondrial complex I deficiency, nuclear type 303
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0010647HP:0100679Lack of skin elasticity1NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent60
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type53
HP:0010647HP:0100679Lack of skin elasticity1NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1NSD1 CL E G H6432414234ORPHA:3447Weaver syndrome544
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1OSMR CL E G H91808507OMIM:105250Amyloidosis, primary localized cutaneous, 15
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0010647HP:0100679Lack of skin elasticity1PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040283 - Occasional641
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndrome26
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0010647HP:0000977Soft skin1PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome.39
HP:0010647HP:0100679Lack of skin elasticity1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0010647HP:0100679Lack of skin elasticity1PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 213
HP:0010647HP:0100679Lack of skin elasticity1PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0010647HP:0100679Lack of skin elasticity1PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PDGFRB CL E G H51598804OMIM:616592Kosaki overgrowth syndrome28
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0010647HP:0000977Soft skin1PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PIK3R1 CL E G H52958979ORPHA:3163SHORT syndrome43
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndrome51
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0010647HP:0000977Soft skin1PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency105
HP:0010647HP:0100679Lack of skin elasticity1POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.731
HP:0010647HP:0000977Soft skin1PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndromeHP:0040281 - Very frequent58
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndrome58
HP:0010647HP:0100679Lack of skin elasticity1PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0010647HP:0100679Lack of skin elasticity1PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0010647HP:0100679Lack of skin elasticity1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0010647HP:0100679Lack of skin elasticity1PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1134
HP:0010647HP:0100679Lack of skin elasticity1PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism6
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfism6
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome948
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentigines291
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0010647HP:0100679Lack of skin elasticity1PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB53
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB53
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB53
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplastica53
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentigines212
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0010647HP:0000977Soft skin1RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1RIN2 CL E G H5445318750ORPHA:217335RIN2 syndrome43
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndrome65
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome65
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndrome77
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0010647HP:0100679Lack of skin elasticity1SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent2
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndrome150
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty type
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0010647HP:0000977Soft skin1SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome178
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome178
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome24
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiency122
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance104
HP:0010647HP:0100679Lack of skin elasticity1SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0010647HP:0100679Lack of skin elasticity1SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndrome260
HP:0010647HP:0000977Soft skin1SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0010647HP:0100679Lack of skin elasticity1SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndrome146
HP:0010647HP:0100679Lack of skin elasticity1SMARCAD1 CL E G H5691618398ORPHA:384Huriez syndromeHP:0040281 - Very frequent6
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0010647HP:0000977Soft skin1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0010647HP:0000977Soft skin1SPARC CL E G H667811219OMIM:616507Osteogenesis imperfecta, type XVII.2
HP:0010647HP:0100679Lack of skin elasticity1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SPINT2 CL E G H1065311247OMIM:270420Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies6
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ80
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0010647HP:0100679Lack of skin elasticity1SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent4
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1SUZ12 CL E G H2351217101ORPHA:3447Weaver syndrome1
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndrome22
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasia5
HP:0010647HP:0100679Lack of skin elasticity1TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndrome238
HP:0010647HP:0100679Lack of skin elasticity1TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0010647HP:0100679Lack of skin elasticity1TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndrome239
HP:0010647HP:0000977Soft skin1TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0010647HP:0100679Lack of skin elasticity1TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndrome253
HP:0010647HP:0100679Lack of skin elasticity1TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0010647HP:0000977Soft skin1TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0010647HP:0100679Lack of skin elasticity1TGM1 CL E G H705111777ORPHA:281127Acral self-healing collodion babyHP:0040281 - Very frequent98
HP:0010647HP:0100679Lack of skin elasticity1TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent98
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TGM5 CL E G H933311781ORPHA:263534Acral peeling skin syndrome44
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndrome60
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TNXB CL E G H714811976ORPHA:230839Classical-like Ehlers-Danlos syndrome type 1134
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TNXB CL E G H714811976OMIM:606408Ehlers-Danlos syndrome, classic-like134
HP:0010647HP:0000977Soft skin1TNXB CL E G H714811976OMIM:606408Ehlers-Danlos syndrome, classic-like.134
HP:0010647HP:0100679Lack of skin elasticity1TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0010647HP:0100679Lack of skin elasticity1TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2171
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbs14
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndrome7
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndrome7
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type III7
HP:0010647HP:0100679Lack of skin elasticity1USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0010647HP:0100679Lack of skin elasticity1USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0010647HP:0100679Lack of skin elasticity1USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic7
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 495
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1WDR81 CL E G H12499726600OMIM:617967Hydrocephalus, congenital, 3, with brain anomalies27
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0010647HP:0100679Lack of skin elasticity1WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040282 - Frequent310
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0010647HP:0000977Soft skin1XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDG14
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndrome5
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0010647HP:0100679Lack of skin elasticity1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndrome397
HP:0010647HP:0000977Soft skin1ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndromeHP:0040281 - Very frequent397
HP:0010647HP:0008067Abnormally lax or hyperextensible skin1ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome397
HP:0010647HP:0100679Lack of skin elasticity1