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:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | | | | 102 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040283 - Occasional | | | 3179 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | | | | 3179 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | | | | 140 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | | | | 140 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 5 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | | | | 168 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | | | | 61 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | | | | 61 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | | | | 29 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | BHLHA9 CL E G H | 727857 | 35126 | OMIM:609432 | Syndactyly, mesoaxial synostotic, with phalangeal reduction | | | | 4 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2639 | Fibular aplasia-complex brachydactyly syndrome | | | | 90 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 317 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CCDC32 CL E G H | 90416 | 28295 | OMIM:619123 | CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | | | | 2 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CDK19 CL E G H | 23097 | 19338 | OMIM:618916 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87 | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 27 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CKAP2L CL E G H | 150468 | 26877 | OMIM:272440 | Filippi syndrome | | | | 7 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | | | | 7 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:618541 | Hypopigmentation, organomegaly, and delayed myelination and development | | | | 102 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79406 | Late-onset junctional epidermolysis bullosa | | | | 129 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | 3 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | COX14 CL E G H | 84987 | 28216 | OMIM:619053 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10 | | | | 4 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | OMIM:618870 | SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | | | | 20 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | CTCF CL E G H | 10664 | 13723 | OMIM:615502 | Mental retardation, autosomal dominant 21 | | | | 20 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | | | | 13 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040281 - Very frequent | | | 159 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | DHODH CL E G H | 1723 | 2867 | ORPHA:246 | Postaxial acrofacial dysostosis | HP:0040281 - Very frequent | | | 59 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | | | | 164 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | DLX4 CL E G H | 1748 | 2917 | OMIM:616788 | Orofacial cleft 15 | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | DOCK6 CL E G H | 57572 | 19189 | OMIM:614219 | Adams-Oliver syndrome 2 | | | | 18 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 91 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | | | | 38 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | | | | 3 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | DPH2 CL E G H | 1802 | 3004 | OMIM:620062 | | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | | | | 144 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 13 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 96 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | FGF9 CL E G H | 2254 | 3687 | ORPHA:3237 | Multiple synostoses syndrome | | | | 75 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | | | | 175 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 145 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | | | | 493 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | | | | 184 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | | | | 29 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:968 | Acromesomelic dysplasia, Hunter-Thompson type | | | | 52 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | | | | 52 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2639 | Fibular aplasia-complex brachydactyly syndrome | | | | 52 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:3237 | Multiple synostoses syndrome | | | | 52 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | | | | 45 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | | | | 6 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | GPKOW CL E G H | 27238 | 30677 | ORPHA:2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | HP:0040283 - Occasional | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:617820 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | | | | 108 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 11 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | | | | 33 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | HNRNPK CL E G H | 3190 | 5044 | OMIM:616580 | Au-Kline syndrome | | | | 8 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 | | | | 11 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | IFT57 CL E G H | 55081 | 17367 | OMIM:617927 | Orofaciodigital syndrome XVIII | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | | | | 91 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type | | | | 141 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 13 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | KCNK9 CL E G H | 51305 | 6283 | OMIM:612292 | BIRK-BAREL SYNDROME | | | | 4 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 7 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040281 - Very frequent | | | 53 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040281 - Very frequent | | | 660 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:125595 | Dermatopathia pigmentosa reticularis | | | | 110 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:161000 | Naegeli syndrome | | | | 110 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | | | | 110 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | | | | 144 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 165 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 8 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | | | | 11 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | | | | 228 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | | | | 228 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | | | | 132 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MSL3 CL E G H | 10943 | 7370 | OMIM:301032 | BASILICATA-AKHTAR SYNDROME; MRXSBA | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | | | | 68 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | | | | 166 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 166 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | | | | 48 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 48 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | | | | 25 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 3 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NOG CL E G H | 9241 | 7866 | ORPHA:3237 | Multiple synostoses syndrome | | | | 22 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | | | | 24 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PAX1 CL E G H | 5075 | 8615 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 88 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | | | | 66 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 169 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 75 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 4 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 65 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX12 CL E G H | 5193 | 8854 | OMIM:266510 | Peroxisome biogenesis disorder 3B | | | | 65 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 66 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 46 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 59 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 62 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 82 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | | | | 82 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 106 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 47 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 99 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | | | | 99 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 98 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | | | | 98 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | | | | 77 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | | | | 77 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | | | | 77 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PKDCC CL E G H | 91461 | 25123 | OMIM:618821 | RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | | | | 3 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | | | | 5 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | | | | 103 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PPP2CA CL E G H | 5515 | 9299 | OMIM:618354 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | | | | 2 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PPP3CA CL E G H | 5530 | 9314 | OMIM:617711 | Epileptic encephalopathy, infantile or early childhood, 1 | | | | 2 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 291 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PTPRF CL E G H | 5792 | 9670 | OMIM:616001 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 212 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 73 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | HP:0040282 - Frequent | | | 365 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | | | | 16 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | | | | 15 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | | | | 10 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:435938 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | | | | 10 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:2307 | IVIC syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 66 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 2 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2963 | Progeroid syndrome, Petty type | HP:0040281 - Very frequent | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | | | | 24 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:2728 | Blepharophimosis-intellectual disability syndrome, Ohdo type | | | | 146 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SMARCAD1 CL E G H | 56916 | 18398 | ORPHA:1658 | Absence of fingerprints-congenital milia syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:129200 | Basan syndrome | | | | 6 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:136000 | Fingerprints, absence of | | | | 6 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:181600 | Huriez syndrome | | | | 6 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 315 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:600251 | Facial clefting, oblique, 1 | | | | 6 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | STAG1 CL E G H | 10274 | 11354 | ORPHA:502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | | | | 9 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 237 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TAF6 CL E G H | 6878 | 11540 | OMIM:617126 | Alazami-Yuan syndrome | | | | 5 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | | | | 22 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | | | | 55 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TCF12 CL E G H | 6938 | 11623 | OMIM:615314 | Craniosynostosis 3 | | | | 28 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | | | | 12 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | | | | 6 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | | | | 5 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 37 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 43 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | | | | 140 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | | | | 54 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 54 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 171 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 3 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 84 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TSEN2 CL E G H | 80746 | 28422 | OMIM:612389 | Pontocerebellar hypoplasia, type 2B | | | | 84 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 57 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 102 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 106 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | UBR7 CL E G H | 55148 | 20344 | OMIM:619189 | LI-CAMPEAU SYNDROME; LICAS | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | | | | 1 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | | | | 20 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | WDR37 CL E G H | 22884 | 31406 | OMIM:618652 | NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | | | | 7 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |
HP:0007477 | HP:0007477 | Abnormal dermatoglyphics | 0 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0007477 | HP:0010506 | Abnormal plantar dermatoglyphics | 1 | CL E G H | | | | | | | | | | |
HP:0007477 | HP:0100888 | Interdigital loops | 1 | CL E G H | | | | | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | | | | 102 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | | | | 3179 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | | | | 140 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | | | | 140 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 5 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | | | | 168 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | | | | 61 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | | | | 61 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0007477 | HP:0007469 | Palmoplantar cutis gyrata | 1 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0007477 | HP:0007469 | Palmoplantar cutis gyrata | 1 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | . | | | 29 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | BHLHA9 CL E G H | 727857 | 35126 | OMIM:609432 | Syndactyly, mesoaxial synostotic, with phalangeal reduction | | | | 4 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2639 | Fibular aplasia-complex brachydactyly syndrome | | | | 90 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | | | | 2 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CDK19 CL E G H | 23097 | 19338 | OMIM:618916 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87 | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 27 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | | | | 7 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CKAP2L CL E G H | 150468 | 26877 | OMIM:272440 | Filippi syndrome | | | | 7 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CLCN7 CL E G H | 1186 | 2025 | OMIM:618541 | Hypopigmentation, organomegaly, and delayed myelination and development | | | | 102 | | |
HP:0007477 | HP:0007455 | Adermatoglyphia | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79406 | Late-onset junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 129 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | COX14 CL E G H | 84987 | 28216 | OMIM:619053 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10 | | | | 4 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CSGALNACT1 CL E G H | 55790 | 24290 | OMIM:618870 | SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | | | | 20 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | CTCF CL E G H | 10664 | 13723 | OMIM:615502 | Mental retardation, autosomal dominant 21 | | | | 20 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | | | | 13 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | | | | 164 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | DLX4 CL E G H | 1748 | 2917 | OMIM:616788 | Orofacial cleft 15 | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | DOCK6 CL E G H | 57572 | 19189 | OMIM:614219 | Adams-Oliver syndrome 2 | | | | 18 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 91 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | | | | 38 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | | | | 3 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | DPH2 CL E G H | 1802 | 3004 | OMIM:620062 | | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | | | | 144 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 13 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 96 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | FGF9 CL E G H | 2254 | 3687 | ORPHA:3237 | Multiple synostoses syndrome | | | | 75 | | |
HP:0007477 | HP:0007469 | Palmoplantar cutis gyrata | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 145 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | | | | 493 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | | | | 184 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | | | | 29 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | | | | 52 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:968 | Acromesomelic dysplasia, Hunter-Thompson type | | | | 52 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2639 | Fibular aplasia-complex brachydactyly syndrome | | | | 52 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:3237 | Multiple synostoses syndrome | | | | 52 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | | | | 45 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | | | | 6 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | GRIN1 CL E G H | 2902 | 4584 | OMIM:617820 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | | | | 108 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 11 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | | | | 33 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | HNRNPK CL E G H | 3190 | 5044 | OMIM:616580 | Au-Kline syndrome | | | | 8 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | IFT43 CL E G H | 112752 | 29669 | OMIM:617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 | | | | 11 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | IFT57 CL E G H | 55081 | 17367 | OMIM:617927 | Orofaciodigital syndrome XVIII | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | | | | 91 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | KAT6B CL E G H | 23522 | 17582 | ORPHA:3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type | | | | 141 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 13 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | KCNK9 CL E G H | 51305 | 6283 | OMIM:612292 | BIRK-BAREL SYNDROME | | | | 4 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 7 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0007477 | HP:0007455 | Adermatoglyphia | 1 | KRT14 CL E G H | 3861 | 6416 | OMIM:125595 | Dermatopathia pigmentosa reticularis | . | | | 110 | | |
HP:0007477 | HP:0007455 | Adermatoglyphia | 1 | KRT14 CL E G H | 3861 | 6416 | OMIM:161000 | Naegeli syndrome | | | | 110 | | |
HP:0007477 | HP:0007455 | Adermatoglyphia | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | HP:0040281 - Very frequent | | | 110 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | | | | 144 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 165 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 8 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | | | | 11 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | | | | 228 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | | | | 228 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | | | | 132 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MSL3 CL E G H | 10943 | 7370 | OMIM:301032 | BASILICATA-AKHTAR SYNDROME; MRXSBA | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | | | | 68 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | | | | 166 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 166 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | | | | 48 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 48 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | | | | 25 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 3 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NOG CL E G H | 9241 | 7866 | ORPHA:3237 | Multiple synostoses syndrome | | | | 22 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | | | | 24 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | | | | 88 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | | | | 66 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX1 CL E G H | 5189 | 8850 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 169 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 75 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX11B CL E G H | 8799 | 8853 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 4 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX12 CL E G H | 5193 | 8854 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 65 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX12 CL E G H | 5193 | 8854 | OMIM:266510 | Peroxisome biogenesis disorder 3B | | | | 65 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX13 CL E G H | 5194 | 8855 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 66 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX14 CL E G H | 5195 | 8856 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 46 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX16 CL E G H | 9409 | 8857 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 59 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX19 CL E G H | 5824 | 9713 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 62 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX2 CL E G H | 5828 | 9717 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 82 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | | | | 82 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX26 CL E G H | 55670 | 22965 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 106 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX3 CL E G H | 8504 | 8858 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 47 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX5 CL E G H | 5830 | 9719 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 99 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | | | | 99 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 98 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | | | | 98 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | | | | 77 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | | | | 77 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | | | | 77 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PKDCC CL E G H | 91461 | 25123 | OMIM:618821 | RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | | | | 3 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | | | | 5 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | | | | 103 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040281 - Very frequent | | | 20 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PPP2CA CL E G H | 5515 | 9299 | OMIM:618354 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | | | | 2 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PPP3CA CL E G H | 5530 | 9314 | OMIM:617711 | Epileptic encephalopathy, infantile or early childhood, 1 | | | | 2 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PTPRF CL E G H | 5792 | 9670 | OMIM:616001 | Breasts and/or nipples, aplasia or hypoplasia of, 2 | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 73 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | | | | 16 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | | | | 15 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | | | | 10 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RPL10 CL E G H | 6134 | 10298 | ORPHA:435938 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | | | | 10 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 66 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 2 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | | | | 24 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:2728 | Blepharophimosis-intellectual disability syndrome, Ohdo type | HP:0040281 - Very frequent | | | 146 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0007477 | HP:0007455 | Adermatoglyphia | 1 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:129200 | Basan syndrome | | | | 6 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:129200 | Basan syndrome | | | | 6 | | |
HP:0007477 | HP:0007455 | Adermatoglyphia | 1 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:136000 | Fingerprints, absence of | . | | | 6 | | |
HP:0007477 | HP:0007455 | Adermatoglyphia | 1 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:181600 | Huriez syndrome | | | | 6 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SPECC1L CL E G H | 23384 | 29022 | OMIM:600251 | Facial clefting, oblique, 1 | | | | 6 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | STAG1 CL E G H | 10274 | 11354 | ORPHA:502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | | | | 9 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 237 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TAF6 CL E G H | 6878 | 11540 | OMIM:617126 | Alazami-Yuan syndrome | | | | 5 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | | | | 22 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | | | | 55 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TCF12 CL E G H | 6938 | 11623 | OMIM:615314 | Craniosynostosis 3 | | | | 28 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | | | | 12 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | | | | 6 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | | | | 5 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 37 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 43 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0007477 | HP:0007455 | Adermatoglyphia | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | | | | 54 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 54 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 171 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 3 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 84 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TSEN2 CL E G H | 80746 | 28422 | OMIM:612389 | Pontocerebellar hypoplasia, type 2B | | | | 84 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 57 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 102 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 106 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | UBR7 CL E G H | 55148 | 20344 | OMIM:619189 | LI-CAMPEAU SYNDROME; LICAS | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | | | | 1 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | | | | 20 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | WDR37 CL E G H | 22884 | 31406 | OMIM:618652 | NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | | | | 7 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |
HP:0007477 | HP:0001018 | Abnormal palmar dermatoglyphics | 1 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0007477 | HP:0005882 | Dermatoglyphic variants | 2 | CL E G H | | | | | | | | | | |
HP:0007477 | HP:0007608 | Abnormal palmar dermal ridges | 2 | CL E G H | | | | | | | | | | |
HP:0007477 | HP:0005875 | Increased dermatoglyphic whorls | 2 | CL E G H | | | | | | | | | | |
HP:0007477 | HP:0007602 | Complex palmar dermatoglyphic pattern | 2 | CL E G H | | | | | | | | | | |
HP:0007477 | HP:0005689 | Dermatoglyphic ridges abnormal | 2 | CL E G H | | | | | | | | | | |
HP:0007477 | HP:0006189 | Prominent interdigital folds | 2 | CL E G H | | | | | | | | | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | | | | 102 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | | | | 3179 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | | | | 140 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | | | | 140 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 5 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | | | | 168 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | | | | 61 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | | | | 61 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | BHLHA9 CL E G H | 727857 | 35126 | OMIM:609432 | Syndactyly, mesoaxial synostotic, with phalangeal reduction | | | | 4 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2639 | Fibular aplasia-complex brachydactyly syndrome | | | | 90 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | | | | 2 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CDK19 CL E G H | 23097 | 19338 | OMIM:618916 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87 | | | | | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 27 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | | | | 7 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CKAP2L CL E G H | 150468 | 26877 | OMIM:272440 | Filippi syndrome | | | | 7 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CLCN7 CL E G H | 1186 | 2025 | OMIM:618541 | Hypopigmentation, organomegaly, and delayed myelination and development | | | | 102 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | COX14 CL E G H | 84987 | 28216 | OMIM:619053 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10 | | | | 4 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0007477 | HP:0001042 | High axial triradius | 2 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CSGALNACT1 CL E G H | 55790 | 24290 | OMIM:618870 | SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA | | | | | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | | | | 20 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | CTCF CL E G H | 10664 | 13723 | OMIM:615502 | Mental retardation, autosomal dominant 21 | | | | 20 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | | | | 13 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | | | | 164 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | 1 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | DLX4 CL E G H | 1748 | 2917 | OMIM:616788 | Orofacial cleft 15 | | | | 1 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | DOCK6 CL E G H | 57572 | 19189 | OMIM:614219 | Adams-Oliver syndrome 2 | | | | 18 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 91 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | | | | 38 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | | | | 3 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | DPH2 CL E G H | 1802 | 3004 | OMIM:620062 | | | | | | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | | | | 144 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 13 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0007477 | HP:0001042 | High axial triradius | 2 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 96 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | FGF9 CL E G H | 2254 | 3687 | ORPHA:3237 | Multiple synostoses syndrome | | | | 75 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 145 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases | 2 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0007477 | HP:0010490 | Abnormality of the palmar creases |