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:0001798 | HP:0001798 | Anonychia | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | HP:0040283 - Occasional | | | 23 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | | | | 3179 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | | | | 147 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | ATP2A2 CL E G H | 488 | 812 | ORPHA:79151 | Acrokeratosis verruciformis of Hopf | HP:0040283 - Occasional | | | 86 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79499 | Autosomal dominant deafness-onychodystrophy syndrome | | | | 5 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:124480 | Deafness, congenital, and onychodystrophy, autosomal dominant | . | | | 5 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 5 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | | | | 5 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | 5 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 118 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 405 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 129 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79406 | Late-onset junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 129 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:231568 | Autosomal dominant generalized dystrophic epidermolysis bullosa | | | | 263 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040283 - Occasional | | | 263 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040282 - Frequent | | | 263 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158676 | Localized dystrophic epidermolysis bullosa, nails only | | | | 263 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79410 | Localized dystrophic epidermolysis bullosa, pretibial form | HP:0040282 - Frequent | | | 263 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79409 | Recessive dystrophic epidermolysis bullosa inversa | HP:0040282 - Frequent | | | 263 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79411 | Self-improving dystrophic epidermolysis bullosa | HP:0040282 - Frequent | | | 263 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | | | | 9 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | | | | 18 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | DSP CL E G H | 1832 | 3052 | OMIM:609638 | EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA | | | | 747 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:158687 | Lethal acantholytic erosive disorder | | | | 747 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | | | | 4 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 36 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:301026 | Keipert syndrome | | | | | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | GRHL2 CL E G H | 79977 | 2799 | OMIM:616029 | Ectodermal dysplasia/short stature syndrome | . | | | 33 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 108 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 5 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | . | | | 124 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 124 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | JUP CL E G H | 3728 | 6207 | ORPHA:158687 | Lethal acantholytic erosive disorder | | | | 222 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 145 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | . | | | 13 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 13 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 7 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | | | | 110 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 116 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 116 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 167 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 167 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 135 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 135 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:212780 | Cenani-Lenz syndactyly syndrome | | | | 124 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | | | | 124 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | 2 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040282 - Frequent | | | 6 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | NOG CL E G H | 9241 | 7866 | ORPHA:140908 | Brachydactyly type B2 | | | | 22 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | . | | | 22 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | | | | 452 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | | | | 452 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 2 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | . | | | 759 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 244 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:251255 | Jawad syndrome | | | | 68 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | | | | 3 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | . | | | 69 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | . | | | 120 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | RSPO4 CL E G H | 343637 | 16175 | OMIM:206800 | Anonychia congenita | . | HP:0003577 - Congenital onset | | 8 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 126 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 427 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 11 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | HP:0040284 - Very rare | | | | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | . | | | 271 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | . | | | 140 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 1 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | . | | | 71 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | . | | | 13 | | |
HP:0001798 | HP:0001798 | Anonychia | 0 | ZBTB20 CL E G H | 26137 | 13503 | ORPHA:3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040282 - Frequent | | | 3179 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040281 - Very frequent | | | 3179 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79499 | Autosomal dominant deafness-onychodystrophy syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79499 | Autosomal dominant deafness-onychodystrophy syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:124480 | Deafness, congenital, and onychodystrophy, autosomal dominant | | | | 5 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:124480 | Deafness, congenital, and onychodystrophy, autosomal dominant | | | | 5 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 118 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 405 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:231568 | Autosomal dominant generalized dystrophic epidermolysis bullosa | HP:0040283 - Occasional | | | 263 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:231568 | Autosomal dominant generalized dystrophic epidermolysis bullosa | HP:0040283 - Occasional | | | 263 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040283 - Occasional | | | 263 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158676 | Localized dystrophic epidermolysis bullosa, nails only | HP:0040283 - Occasional | | | 263 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | DSP CL E G H | 1832 | 3052 | OMIM:609638 | EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA | | | | 747 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040282 - Frequent | | | 747 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040282 - Frequent | | | 747 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 36 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:301026 | Keipert syndrome | HP:0040284 - Very rare | | | | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 108 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 5 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | JUP CL E G H | 3728 | 6207 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040282 - Frequent | | | 222 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | JUP CL E G H | 3728 | 6207 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040282 - Frequent | | | 222 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 145 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | HP:0040283 - Occasional | | | 110 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040282 - Frequent | | | 124 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040281 - Very frequent | | | 124 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | NOG CL E G H | 9241 | 7866 | ORPHA:140908 | Brachydactyly type B2 | HP:0040281 - Very frequent | | | 22 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 452 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | | | | 452 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 2 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 244 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 126 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 427 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 11 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040281 - Very frequent | | | 271 | | |
HP:0001798 | HP:0001817 | Absent fingernail | 1 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 1 | | |
HP:0001798 | HP:0001802 | Absent toenail | 1 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | . | | | 13 | | |
HP:0001798 | HP:0033975 | Absent second fingernail | 2 | CL E G H | | | | | | | | | | |
HP:0001798 | HP:0200104 | Absent fifth fingernail | 2 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0001798 | HP:0200105 | Absent fifth toenail | 2 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79499 | Autosomal dominant deafness-onychodystrophy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001798 | HP:0200104 | Absent fifth fingernail | 2 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79499 | Autosomal dominant deafness-onychodystrophy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001798 | HP:0200104 | Absent fifth fingernail | 2 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:124480 | Deafness, congenital, and onychodystrophy, autosomal dominant | | | | 5 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:124480 | Deafness, congenital, and onychodystrophy, autosomal dominant | | | | 5 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 118 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 405 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 36 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 108 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 5 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 145 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0001798 | HP:0012555 | Absent nail of hallux | 2 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | . | | | 13 | | |
HP:0001798 | HP:0012555 | Absent nail of hallux | 2 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | | | |
HP:0001798 | HP:0200105 | Absent fifth toenail | 2 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 2 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 244 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 126 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 427 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 11 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0001798 | HP:0012554 | Absent thumbnail | 2 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 1 | | |