Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal elasticity of skin (HP:0010647)help
Parent Node:
expand
Abnormally lax or hyperextensible skin (HP:0008067)help
..Starting node
..expand
Cutis laxa (HP:0000973)help
Term ID: 973
Name: Cutis laxa
Synonym: Chalazoderma; Cutaneous laxity; Dermatochalasia; Dermatomegaly; Elastolysis; Generalised elastolysis; Generalized elastolysis; Hanging skin; Hypoelastic skin; Inelastic skin; Lax skin; Loose and inelastic skin; Loose skin; Skin laxity
Definition: Wrinkled, redundant, inelastic and sagging skin.
Comments:
Reference: HP:0000973
Genes and Diseases:
 
       Child Nodes:
........expandRedundant skin (HP:0001582) help
................... HP:0005989 Redundant neck skin
................... HP:0007516 Redundant skin on fingers
................... HP:0007595 Redundant skin in infancy
........expandPalmoplantar cutis laxa (HP:0007517) help

 Sister Nodes: 
..expandDelayed recoil upon stretching of skin (HP:0025087) help
..expandExcessive wrinkled skin (HP:0007392) help
..expandHyperextensible skin (HP:0000974) help
..expandIncreased number of skin folds (HP:0007522) help
..expandLocalized area of pendulous skin (HP:0025182) 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:0000973HP:0000973Cutis laxa0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000973HP:0000973Cutis laxa0ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0000973HP:0000973Cutis laxa0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive165
HP:0000973HP:0000973Cutis laxa0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0000973HP:0000973Cutis laxa0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2
HP:0000973HP:0000973Cutis laxa0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxaHP:0040281 - Very frequent89
HP:0000973HP:0000973Cutis laxa0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3.89
HP:0000973HP:0000973Cutis laxa0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0000973HP:0000973Cutis laxa0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0000973HP:0000973Cutis laxa0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040283 - Occasional46
HP:0000973HP:0000973Cutis laxa0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome8
HP:0000973HP:0000973Cutis laxa0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0000973HP:0000973Cutis laxa0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0000973HP:0000973Cutis laxa0ATP6AP2 CL E G H1015918305OMIM:301045CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R36
HP:0000973HP:0000973Cutis laxa0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0000973HP:0000973Cutis laxa0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0000973HP:0000973Cutis laxa0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0000973HP:0000973Cutis laxa0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0000973HP:0000973Cutis laxa0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0000973HP:0000973Cutis laxa0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID3
HP:0000973HP:0000973Cutis laxa0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0000973HP:0000973Cutis laxa0ATP7A CL E G H538869OMIM:309400Menkes disease.192
HP:0000973HP:0000973Cutis laxa0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome192
HP:0000973HP:0000973Cutis laxa0B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 2.38
HP:0000973HP:0000973Cutis laxa0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0000973HP:0000973Cutis laxa0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0000973HP:0000973Cutis laxa0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent29
HP:0000973HP:0000973Cutis laxa0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000973HP:0000973Cutis laxa0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 49.3
HP:0000973HP:0000973Cutis laxa0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000973HP:0000973Cutis laxa0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0000973HP:0000973Cutis laxa0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000973HP:0000973Cutis laxa0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 115
HP:0000973HP:0000973Cutis laxa0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0000973HP:0000973Cutis laxa0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0000973HP:0000973Cutis laxa0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0000973HP:0000973Cutis laxa0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0000973HP:0000973Cutis laxa0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0000973HP:0000973Cutis laxa0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0000973HP:0000973Cutis laxa0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000973HP:0000973Cutis laxa0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0000973HP:0000973Cutis laxa0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0000973HP:0000973Cutis laxa0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0000973HP:0000973Cutis laxa0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000973HP:0000973Cutis laxa0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000973HP:0000973Cutis laxa0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0000973HP:0000973Cutis laxa0EED CL E G H87263188ORPHA:3447Weaver syndrome4
HP:0000973HP:0000973Cutis laxa0EFEMP2 CL E G H300083219ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040280 - Obligate45
HP:0000973HP:0000973Cutis laxa0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB.45
HP:0000973HP:0000973Cutis laxa0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000973HP:0000973Cutis laxa0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxaHP:0040281 - Very frequent172
HP:0000973HP:0000973Cutis laxa0ELN CL E G H20063327OMIM:123700Cutis laxa, autosomal dominant 1172
HP:0000973HP:0000973Cutis laxa0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000973HP:0000973Cutis laxa0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000973HP:0000973Cutis laxa0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 296
HP:0000973HP:0000973Cutis laxa0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0000973HP:0000973Cutis laxa0EZH2 CL E G H21463527ORPHA:3447Weaver syndrome81
HP:0000973HP:0000973Cutis laxa0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxaHP:0040281 - Very frequent63
HP:0000973HP:0000973Cutis laxa0FBLN5 CL E G H105163602ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040280 - Obligate63
HP:0000973HP:0000973Cutis laxa0FBLN5 CL E G H105163602OMIM:614434Cutis laxa, autosomal dominant 2.63
HP:0000973HP:0000973Cutis laxa0FBLN5 CL E G H105163602OMIM:219100Cutis laxa, autosomal recessive, type IA63
HP:0000973HP:0000973Cutis laxa0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040281 - Very frequent1361
HP:0000973HP:0000973Cutis laxa0FGF20 CL E G H262813677OMIM:615721Renal hypodysplasia/aplasia 22
HP:0000973HP:0000973Cutis laxa0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0000973HP:0000973Cutis laxa0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans145
HP:0000973HP:0000973Cutis laxa0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1145
HP:0000973HP:0000973Cutis laxa0FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2145
HP:0000973HP:0000973Cutis laxa0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000973HP:0000973Cutis laxa0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0000973HP:0000973Cutis laxa0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0000973HP:0000973Cutis laxa0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000973HP:0000973Cutis laxa0FLNA CL E G H23163754OMIM:314400Cardiac valvular dysplasia, X-linkedHP:0040284 - Very rare493
HP:0000973HP:0000973Cutis laxa0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndrome63
HP:0000973HP:0000973Cutis laxa0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0000973HP:0000973Cutis laxa0GGCX CL E G H26774247ORPHA:91135Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiencyHP:0040281 - Very frequent129
HP:0000973HP:0000973Cutis laxa0GGCX CL E G H26774247OMIM:610842PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY129
HP:0000973HP:0000973Cutis laxa0GGCX CL E G H26774247ORPHA:436274Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosaHP:0040280 - Obligate129
HP:0000973HP:0000973Cutis laxa0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000973HP:0000973Cutis laxa0GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplastica52
HP:0000973HP:0000973Cutis laxa0GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum.52
HP:0000973HP:0000973Cutis laxa0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0000973HP:0000973Cutis laxa0GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040282 - Frequent53
HP:0000973HP:0000973Cutis laxa0GSN CL E G H29344620OMIM:105120Amyloidosis, Finnish type.53
HP:0000973HP:0000973Cutis laxa0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000973HP:0000973Cutis laxa0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000973HP:0000973Cutis laxa0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000973HP:0000973Cutis laxa0H1-4 CL E G H30084718OMIM:617537Rahman syndrome
HP:0000973HP:0000973Cutis laxa0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 155
HP:0000973HP:0000973Cutis laxa0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0000973HP:0000973Cutis laxa0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0000973HP:0000973Cutis laxa0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0000973HP:0000973Cutis laxa0IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 3.11
HP:0000973HP:0000973Cutis laxa0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000973HP:0000973Cutis laxa0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0000973HP:0000973Cutis laxa0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0000973HP:0000973Cutis laxa0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000973HP:0000973Cutis laxa0LTBP1 CL E G H40526714ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040280 - Obligate
HP:0000973HP:0000973Cutis laxa0LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000973HP:0000973Cutis laxa0LTBP4 CL E G H84256717OMIM:613177Cutis laxa, autosomal recessive, type IC.92
HP:0000973HP:0000973Cutis laxa0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0000973HP:0000973Cutis laxa0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000973HP:0000973Cutis laxa0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040283 - Occasional93
HP:0000973HP:0000973Cutis laxa0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0000973HP:0000973Cutis laxa0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0000973HP:0000973Cutis laxa0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0000973HP:0000973Cutis laxa0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0000973HP:0000973Cutis laxa0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000973HP:0000973Cutis laxa0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0000973HP:0000973Cutis laxa0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0000973HP:0000973Cutis laxa0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0000973HP:0000973Cutis laxa0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000973HP:0000973Cutis laxa0MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0000973HP:0000973Cutis laxa0MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0000973HP:0000973Cutis laxa0MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 525
HP:0000973HP:0000973Cutis laxa0NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0000973HP:0000973Cutis laxa0NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040283 - Occasional23
HP:0000973HP:0000973Cutis laxa0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly.25
HP:0000973HP:0000973Cutis laxa0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0000973HP:0000973Cutis laxa0NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0000973HP:0000973Cutis laxa0NDUFB11 CL E G H5453920372OMIM:301021Mitochondrial complex I deficiency, nuclear type 303
HP:0000973HP:0000973Cutis laxa0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0000973HP:0000973Cutis laxa0NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type53
HP:0000973HP:0000973Cutis laxa0NSD1 CL E G H6432414234ORPHA:3447Weaver syndrome544
HP:0000973HP:0000973Cutis laxa0OSMR CL E G H91808507OMIM:105250Amyloidosis, primary localized cutaneous, 1.5
HP:0000973HP:0000973Cutis laxa0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000973HP:0000973Cutis laxa0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0000973HP:0000973Cutis laxa0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndrome51
HP:0000973HP:0000973Cutis laxa0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0000973HP:0000973Cutis laxa0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfism6
HP:0000973HP:0000973Cutis laxa0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0000973HP:0000973Cutis laxa0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB53
HP:0000973HP:0000973Cutis laxa0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB.53
HP:0000973HP:0000973Cutis laxa0PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplastica53
HP:0000973HP:0000973Cutis laxa0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0000973HP:0000973Cutis laxa0RIN2 CL E G H5445318750OMIM:613075Macs syndrome.43
HP:0000973HP:0000973Cutis laxa0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndrome43
HP:0000973HP:0000973Cutis laxa0RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0000973HP:0000973Cutis laxa0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0000973HP:0000973Cutis laxa0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndrome65
HP:0000973HP:0000973Cutis laxa0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0000973HP:0000973Cutis laxa0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000973HP:0000973Cutis laxa0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000973HP:0000973Cutis laxa0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000973HP:0000973Cutis laxa0SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty typeHP:0040281 - Very frequent
HP:0000973HP:0000973Cutis laxa0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0000973HP:0000973Cutis laxa0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0000973HP:0000973Cutis laxa0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiency122
HP:0000973HP:0000973Cutis laxa0SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance.104
HP:0000973HP:0000973Cutis laxa0SPINT2 CL E G H1065311247OMIM:270420Diarrhea 3, secretory sodium, congenital, with or without other congenital anomaliesHP:0040283 - Occasional6
HP:0000973HP:0000973Cutis laxa0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ.80
HP:0000973HP:0000973Cutis laxa0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0000973HP:0000973Cutis laxa0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndrome1
HP:0000973HP:0000973Cutis laxa0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0000973HP:0000973Cutis laxa0TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasia5
HP:0000973HP:0000973Cutis laxa0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0000973HP:0000973Cutis laxa0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2171
HP:0000973HP:0000973Cutis laxa0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndrome7
HP:0000973HP:0000973Cutis laxa0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0000973HP:0000973Cutis laxa0TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndrome7
HP:0000973HP:0000973Cutis laxa0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0000973HP:0000973Cutis laxa0TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type III7
HP:0000973HP:0000973Cutis laxa0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0000973HP:0000973Cutis laxa0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0000973HP:0000973Cutis laxa0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 4.95
HP:0000973HP:0000973Cutis laxa0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0000973HP:0000973Cutis laxa0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000973HP:0000973Cutis laxa0WDR81 CL E G H12499726600OMIM:617967Hydrocephalus, congenital, 3, with brain anomalies27
HP:0000973HP:0000973Cutis laxa0XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0000973HP:0000973Cutis laxa0XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0000973HP:0000973Cutis laxa0ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome397
HP:0000973HP:0001582Redundant skin1ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0000973HP:0001582Redundant skin1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040281 - Very frequent
HP:0000973HP:0001582Redundant skin1AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0000973HP:0001582Redundant skin1ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxaHP:0040281 - Very frequent89
HP:0000973HP:0001582Redundant skin1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0000973HP:0001582Redundant skin1ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0000973HP:0001582Redundant skin1ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0000973HP:0001582Redundant skin1ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0000973HP:0001582Redundant skin1ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0000973HP:0007517Palmoplantar cutis laxa1ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0000973HP:0001582Redundant skin1ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0000973HP:0001582Redundant skin1ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID3
HP:0000973HP:0001582Redundant skin1ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0000973HP:0001582Redundant skin1ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0000973HP:0001582Redundant skin1B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0000973HP:0001582Redundant skin1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000973HP:0001582Redundant skin1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000973HP:0001582Redundant skin1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040283 - Occasional276
HP:0000973HP:0001582Redundant skin1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000973HP:0007517Palmoplantar cutis laxa1C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0000973HP:0001582Redundant skin1CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040282 - Frequent83
HP:0000973HP:0001582Redundant skin1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0000973HP:0001582Redundant skin1CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0000973HP:0001582Redundant skin1CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent27
HP:0000973HP:0001582Redundant skin1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000973HP:0001582Redundant skin1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000973HP:0001582Redundant skin1CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0000973HP:0001582Redundant skin1DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0000973HP:0001582Redundant skin1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000973HP:0001582Redundant skin1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000973HP:0001582Redundant skin1DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent13
HP:0000973HP:0001582Redundant skin1EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0000973HP:0001582Redundant skin1EFEMP2 CL E G H300083219ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040281 - Very frequent45
HP:0000973HP:0001582Redundant skin1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000973HP:0001582Redundant skin1ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxaHP:0040281 - Very frequent172
HP:0000973HP:0001582Redundant skin1ELN CL E G H20063327OMIM:123700Cutis laxa, autosomal dominant 1.172
HP:0000973HP:0001582Redundant skin1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0000973HP:0001582Redundant skin1EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040282 - Frequent96
HP:0000973HP:0001582Redundant skin1EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0000973HP:0001582Redundant skin1FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxaHP:0040281 - Very frequent63
HP:0000973HP:0001582Redundant skin1FBLN5 CL E G H105163602ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040281 - Very frequent63
HP:0000973HP:0001582Redundant skin1FBLN5 CL E G H105163602OMIM:219100Cutis laxa, autosomal recessive, type IA.63
HP:0000973HP:0001582Redundant skin1FGF20 CL E G H262813677OMIM:615721Renal hypodysplasia/aplasia 2.2
HP:0000973HP:0001582Redundant skin1FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0000973HP:0007517Palmoplantar cutis laxa1FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome.175
HP:0000973HP:0001582Redundant skin1FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0000973HP:0001582Redundant skin1FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1HP:0040281 - Very frequent145
HP:0000973HP:0001582Redundant skin1FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2HP:0040281 - Very frequent145
HP:0000973HP:0001582Redundant skin1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000973HP:0001582Redundant skin1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0000973HP:0001582Redundant skin1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000973HP:0001582Redundant skin1FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndromeHP:0040283 - Occasional63
HP:0000973HP:0001582Redundant skin1GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0000973HP:0001582Redundant skin1GGCX CL E G H26774247ORPHA:91135Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiencyHP:0040281 - Very frequent129
HP:0000973HP:0001582Redundant skin1GGCX CL E G H26774247ORPHA:436274Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosaHP:0040281 - Very frequent129
HP:0000973HP:0001582Redundant skin1GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplasticaHP:0040281 - Very frequent52
HP:0000973HP:0001582Redundant skin1GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0000973HP:0001582Redundant skin1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000973HP:0001582Redundant skin1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000973HP:0001582Redundant skin1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000973HP:0001582Redundant skin1H1-4 CL E G H30084718OMIM:617537Rahman syndrome
HP:0000973HP:0001582Redundant skin1HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 1.55
HP:0000973HP:0001582Redundant skin1HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040281 - Very frequent113
HP:0000973HP:0001582Redundant skin1HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0000973HP:0001582Redundant skin1KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0000973HP:0001582Redundant skin1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040283 - Occasional196
HP:0000973HP:0001582Redundant skin1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000973HP:0001582Redundant skin1LTBP1 CL E G H40526714ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040281 - Very frequent
HP:0000973HP:0007517Palmoplantar cutis laxa1LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0000973HP:0007517Palmoplantar cutis laxa1LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000973HP:0001582Redundant skin1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040283 - Occasional134
HP:0000973HP:0001582Redundant skin1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040283 - Occasional178
HP:0000973HP:0001582Redundant skin1MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0000973HP:0001582Redundant skin1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000973HP:0001582Redundant skin1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000973HP:0001582Redundant skin1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000973HP:0007517Palmoplantar cutis laxa1MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0000973HP:0001582Redundant skin1MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0000973HP:0001582Redundant skin1MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 525
HP:0000973HP:0001582Redundant skin1NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0000973HP:0001582Redundant skin1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0000973HP:0001582Redundant skin1NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0000973HP:0001582Redundant skin1NDUFB11 CL E G H5453920372OMIM:301021Mitochondrial complex I deficiency, nuclear type 30.3
HP:0000973HP:0001582Redundant skin1NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type53
HP:0000973HP:0001582Redundant skin1NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040281 - Very frequent544
HP:0000973HP:0001582Redundant skin1OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000973HP:0001582Redundant skin1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0000973HP:0001582Redundant skin1PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndromeHP:0040283 - Occasional51
HP:0000973HP:0007517Palmoplantar cutis laxa1PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0000973HP:0001582Redundant skin1PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040281 - Very frequent6
HP:0000973HP:0001582Redundant skin1PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB.53
HP:0000973HP:0001582Redundant skin1PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplasticaHP:0040281 - Very frequent53
HP:0000973HP:0001582Redundant skin1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000973HP:0001582Redundant skin1RIN2 CL E G H5445318750OMIM:613075Macs syndrome.43
HP:0000973HP:0001582Redundant skin1RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040281 - Very frequent43
HP:0000973HP:0007517Palmoplantar cutis laxa1RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0000973HP:0001582Redundant skin1RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040282 - Frequent65
HP:0000973HP:0001582Redundant skin1RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0000973HP:0001582Redundant skin1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000973HP:0001582Redundant skin1SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000973HP:0001582Redundant skin1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0000973HP:0001582Redundant skin1SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty typeHP:0040281 - Very frequent
HP:0000973HP:0001582Redundant skin1SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0000973HP:0001582Redundant skin1SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040283 - Occasional122
HP:0000973HP:0001582Redundant skin1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000973HP:0001582Redundant skin1SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040281 - Very frequent1
HP:0000973HP:0001582Redundant skin1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000973HP:0001582Redundant skin1TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasia5
HP:0000973HP:0001582Redundant skin1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000973HP:0001582Redundant skin1TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040282 - Frequent171
HP:0000973HP:0001582Redundant skin1TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndromeHP:0040281 - Very frequent7
HP:0000973HP:0001582Redundant skin1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0000973HP:0001582Redundant skin1TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome.7
HP:0000973HP:0001582Redundant skin1TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndromeHP:0040281 - Very frequent7
HP:0000973HP:0001582Redundant skin1TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type IIIHP:0040281 - Very frequent7
HP:0000973HP:0001582Redundant skin1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0000973HP:0001582Redundant skin1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000973HP:0001582Redundant skin1WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000973HP:0001582Redundant skin1WDR81 CL E G H12499726600OMIM:617967Hydrocephalus, congenital, 3, with brain anomalies27
HP:0000973HP:0007517Palmoplantar cutis laxa1ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome.397
HP:0000973HP:0007595Redundant skin in infancy2 CL E G H
HP:0000973HP:0005989Redundant neck skin2ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0000973HP:0005989Redundant neck skin2ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0000973HP:0005989Redundant neck skin2ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0000973HP:0005989Redundant neck skin2ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0000973HP:0005989Redundant neck skin2B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0000973HP:0005989Redundant neck skin2CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0000973HP:0005989Redundant neck skin2CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0000973HP:0005989Redundant neck skin2CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0000973HP:0005989Redundant neck skin2DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000973HP:0005989Redundant neck skin2DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000973HP:0005989Redundant neck skin2ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0000973HP:0005989Redundant neck skin2FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0000973HP:0005989Redundant neck skin2FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0000973HP:0005989Redundant neck skin2FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0000973HP:0005989Redundant neck skin2FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000973HP:0005989Redundant neck skin2GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0000973HP:0005989Redundant neck skin2HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0000973HP:0005989Redundant neck skin2KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0000973HP:0005989Redundant neck skin2MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000973HP:0005989Redundant neck skin2MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000973HP:0005989Redundant neck skin2MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 2.60
HP:0000973HP:0005989Redundant neck skin2MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 5.25
HP:0000973HP:0005989Redundant neck skin2NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000973HP:0005989Redundant neck skin2NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0000973HP:0007516Redundant skin on fingers2NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type.53
HP:0000973HP:0005989Redundant neck skin2OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000973HP:0005989Redundant neck skin2PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0000973HP:0005989Redundant neck skin2RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0000973HP:0005989Redundant neck skin2RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000973HP:0005989Redundant neck skin2SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000973HP:0005989Redundant neck skin2TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasiaHP:0040282 - Frequent5
HP:0000973HP:0005989Redundant neck skin2VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0000973HP:0005989Redundant neck skin2WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000973HP:0005989Redundant neck skin2WDR81 CL E G H12499726600OMIM:617967Hydrocephalus, congenital, 3, with brain anomalies27


Genes (126) :AARS1 ABCC6 ADAMTS2 AEBP1 ALDH18A1 ALG12 ALG8 ANTXR1 ASXL1 ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A B3GALT6 B3GAT3 B4GALT1 B4GALT7 BAZ1B BCL11B BCL7B BRAF BUD23 C1R CD96 CDK13 CEP55 CHST14 CHST3 CLIP2 COL3A1 CSPP1 DLK1 DNAJC30 DSE EED EFEMP2 EIF4H ELN EXT1 EZH2 FBLN5 FBN1 FGF20 FGFR2 FGFR3 FIG4 FKBP14 FKBP6 FLNA FOXC1 GATA1 GGCX GNB2 GORAB GPX4 GSN GTF2I GTF2IRD1 GTF2IRD2 H1-4 HPGD HRAS IFT140 IFT43 IPO8 KIAA0586 KRAS LIMK1 LTBP1 LTBP4 LZTR1 MAN1B1 MAP2K1 MAP2K2 MEG3 MEGF8 METTL27 MLXIPL MRAS MRPS16 MRPS22 NAA10 NBAS NCF1 NDUFB10 NDUFB11 NEPRO NPR2 NSD1 OSMR OTUD5 PEX1 PITX2 PLOD1 PTDSS1 PYCR1 RFC2 RIN2 RIT1 RPS6KA3 RTL1 SH3PXD2B SLC25A24 SLC2A10 SLC6A8 SLC7A7 SPINT2 SRD5A3 STX1A SUZ12 TBL2 TBX15 TMEM270 TRPS1 TWIST2 VAC14 VPS37D WDR19 WDR35 WDR37 WDR81 XYLT1 XYLT2 ZNF469

Diseases (125) :OMIM:619691 OMIM:264800 OMIM:225410 ORPHA:536532 OMIM:618000 ORPHA:90348 OMIM:616603 OMIM:219150 ORPHA:79324 ORPHA:79325 OMIM:230740 OMIM:605039 OMIM:300972 OMIM:301045 ORPHA:357074 OMIM:219200 OMIM:278250 ORPHA:2834 OMIM:617403 OMIM:309400 OMIM:304150 OMIM:615349 OMIM:245600 ORPHA:79332 ORPHA:75496 ORPHA:904 OMIM:617237 ORPHA:1340 OMIM:130080 ORPHA:1308 OMIM:211750 OMIM:617360 OMIM:236500 ORPHA:2953 ORPHA:286 ORPHA:397715 ORPHA:254528 ORPHA:96334 ORPHA:3447 ORPHA:90349 OMIM:614437 OMIM:123700 OMIM:194050 ORPHA:502 OMIM:277590 OMIM:614434 OMIM:219100 ORPHA:284979 OMIM:615721 OMIM:123790 OMIM:616482 ORPHA:1860 ORPHA:93274 OMIM:216340 ORPHA:3472 OMIM:614557 OMIM:314400 ORPHA:782 OMIM:190685 ORPHA:91135 OMIM:610842 ORPHA:436274 OMIM:619503 ORPHA:2078 OMIM:231070 OMIM:250220 ORPHA:85448 OMIM:105120 OMIM:617537 OMIM:259100 OMIM:218040 ORPHA:3071 OMIM:266920 OMIM:614099 OMIM:619472 OMIM:619451 OMIM:613177 OMIM:616564 OMIM:605275 ORPHA:397941 OMIM:614202 OMIM:614976 OMIM:618499 OMIM:610498 OMIM:611719 OMIM:300855 ORPHA:276432 OMIM:614800 OMIM:619003 OMIM:301021 OMIM:618853 OMIM:602875 OMIM:105250 OMIM:301056 OMIM:214100 OMIM:225400 ORPHA:2658 OMIM:151050 OMIM:612940 OMIM:614438 OMIM:613075 ORPHA:217335 OMIM:615355 OMIM:303600 ORPHA:192 OMIM:249420 OMIM:612289 ORPHA:2963 OMIM:208050 ORPHA:3342 ORPHA:52503 OMIM:222700 OMIM:270420 OMIM:612379 ORPHA:93333 ORPHA:920 OMIM:200110 ORPHA:1231 OMIM:209885 ORPHA:1807 OMIM:614378 OMIM:613610 OMIM:618652 OMIM:617967 OMIM:229200
 

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