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:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2639 | Fibular aplasia-complex brachydactyly syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | HP:0040283 - Occasional | | | 164 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040283 - Occasional | | | 92 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040283 - Occasional | | | 96 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | FGF9 CL E G H | 2254 | 3687 | ORPHA:3237 | Multiple synostoses syndrome | HP:0040282 - Frequent | | | 75 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:968 | Acromesomelic dysplasia, Hunter-Thompson type | HP:0040281 - Very frequent | | | 52 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2639 | Fibular aplasia-complex brachydactyly syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:3237 | Multiple synostoses syndrome | HP:0040282 - Frequent | | | 52 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type | HP:0040282 - Frequent | | | 141 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | NOG CL E G H | 9241 | 7866 | ORPHA:3237 | Multiple synostoses syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040282 - Frequent | | | 66 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 169 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 75 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 4 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 65 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 66 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 46 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 59 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 62 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 82 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 106 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 47 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 99 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 98 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | HP:0040283 - Occasional | | | 103 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | PTPRF CL E G H | 5792 | 9670 | OMIM:616001 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | | | | 1 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 120 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 66 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040282 - Frequent | | | 15 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040283 - Occasional | | | 12 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040283 - Occasional | | | 171 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 3 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 84 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 57 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 102 | | |
HP:0007598 | HP:0007598 | Bilateral single transverse palmar creases | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 18 | | |