Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 415 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | ADAMTS2 CL E G H | 9509 | 218 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 165 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040281 - Very frequent | | | | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | . | | | | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | AKT3 CL E G H | 10000 | 393 | OMIM:615937 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 | . | | | 19 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:35664 | ALDH18A1-related De Barsy syndrome | HP:0040281 - Very frequent | | | 89 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040281 - Very frequent | | | 192 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040281 - Very frequent | | | 192 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | . | | | 192 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 38 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:615349 | Ehlers-Danlos syndrome, spondylodysplastic type, 2 | . | | | 38 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | HP:0040283 - Occasional | | | 38 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 5 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040281 - Very frequent | | | 276 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | . | | | 15 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | C1R CL E G H | 715 | 1246 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | C1S CL E G H | 716 | 1247 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 27 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 165 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 373 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 373 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:619115 | COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1 | | | | 373 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:130060 | Ehlers-Danlos syndrome, arthrochalasia type, 1 | . | | | 373 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 243 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 243 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:619120 | COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2 | | | | 243 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:617821 | Ehlers-Danlos syndrome, arthrochalasia type, 2 | . | | | 243 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:225320 | Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | . | | | 243 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 660 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:130000 | Ehlers-danlos syndrome, type I | | | | 660 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:619329 | FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF | | | | 660 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 325 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | COL5A2 CL E G H | 1290 | 2210 | OMIM:130010 | Ehlers-Danlos syndrome, classic type, 2 | | | | 325 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040284 - Very rare | | | 223 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 151 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | EXOC6B CL E G H | 23233 | 17085 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | HP:0040283 - Occasional | | | 3 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:619764 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H | | | | 63 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:608895 | Macular degeneration, age-related, 3 | | | | 63 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | HP:0040282 - Frequent | | | 62 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | . | | | 13 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | HP:0040281 - Very frequent | | | 13 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:555877 | FLNA-related X-linked myxomatous valvular dysplasia | | | | 493 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:75497 | X-linked Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 493 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040284 - Very rare | | | | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | GORAB CL E G H | 92344 | 25676 | ORPHA:2078 | Geroderma osteodysplastica | HP:0040281 - Very frequent | | | 52 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | HP:0040283 - Occasional | | | | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040283 - Occasional | | | 229 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040284 - Very rare | | | 99 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | . | | | 178 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | . | | | 39 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:616592 | Kosaki overgrowth syndrome | . | | | 28 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | | | | 105 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040281 - Very frequent | | | 105 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | PRDM5 CL E G H | 11107 | 9349 | ORPHA:90354 | Brittle cornea syndrome | HP:0040281 - Very frequent | | | 58 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040281 - Very frequent | | | 291 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | PYCR1 CL E G H | 5831 | 9721 | ORPHA:2078 | Geroderma osteodysplastica | HP:0040281 - Very frequent | | | 53 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040281 - Very frequent | | | 212 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | . | | | 43 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | HP:0040283 - Occasional | | | 166 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | . | | | 24 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 24 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | TNXB CL E G H | 7148 | 11976 | ORPHA:230839 | Classical-like Ehlers-Danlos syndrome type 1 | HP:0040282 - Frequent | | | 134 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | TNXB CL E G H | 7148 | 11976 | OMIM:606408 | Ehlers-Danlos syndrome, classic-like | . | | | 134 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1231 | Barber-Say syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | XYLT2 CL E G H | 64132 | 15517 | ORPHA:85194 | Spondylo-ocular syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000974 | HP:0000974 | Hyperextensible skin | 0 | ZNF469 CL E G H | 84627 | 23216 | ORPHA:90354 | Brittle cornea syndrome | HP:0040281 - Very frequent | | | 397 | | |
HP:0000974 | HP:0007458 | Focal hyperextensible skin | 1 | CL E G H | | | | | | | | | | |
HP:0000974 | HP:0011930 | Hyperextensible skin of chest | 2 | CL E G H | | | | | | | | | | |
HP:0000974 | HP:0007425 | Hyperextensible skin of face | 2 | CL E G H | | | | | | | | | | |