Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001792 | HP:0001792 | Small nail | 0 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 244 | 14631 | 612277 |
HP:0001792 | HP:0001792 | Small nail | 0 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 242 | 14631 | 612277 |
HP:0001792 | HP:0001792 | Small nail | 0 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 166 | 23056 | 608750 |
HP:0001792 | HP:0001792 | Small nail | 0 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 159 | 23056 | 608750 |
HP:0001792 | HP:0001792 | Small nail | 0 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0001792 | HP:0001792 | Small nail | 0 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0001792 | HP:0001792 | Small nail | 0 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 442 | 11110 | 603024 |
HP:0001792 | HP:0001792 | Small nail | 0 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 383 | 11110 | 603024 |
HP:0001792 | HP:0001792 | Small nail | 0 | ATP6V1B2 CL E G H | 526 | 124480 | Deafness, congenital, with onychodystrophy, autosomal dominant | 124480 | C2675730 | OMIM | 1 | | 118 | 854 | 606939 |
HP:0001792 | HP:0001792 | Small nail | 0 | ATP6V1B2 CL E G H | 526 | 124480 | Deafness, congenital, with onychodystrophy, autosomal dominant | 124480 | C2675730 | OMIM | 1 | | 115 | 854 | 606939 |
HP:0001792 | HP:0001792 | Small nail | 0 | BHLHA9 CL E G H | 727857 | 607539 | Camptosynpolydactyly, complex | 607539 | C1843758 | OMIM | 1 | | 141 | 35126 | 615416 |
HP:0001792 | HP:0001792 | Small nail | 0 | BHLHA9 CL E G H | 727857 | 607539 | Camptosynpolydactyly, complex | 607539 | C1843758 | OMIM | 1 | | 131 | 35126 | 615416 |
HP:0001792 | HP:0001792 | Small nail | 0 | CDH1 CL E G H | 999 | 119580 | Ectropion inferior cleft lip and or palate | 119580 | C1861536 | OMIM | 1 | | 3046 | 1748 | 192090 |
HP:0001792 | HP:0001792 | Small nail | 0 | CDH1 CL E G H | 999 | 119580 | Ectropion inferior cleft lip and or palate | 119580 | C1861536 | OMIM | 1 | | 2818 | 1748 | 192090 |
HP:0001792 | HP:0001792 | Small nail | 0 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 94 | 26877 | 616174 |
HP:0001792 | HP:0001792 | Small nail | 0 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 78 | 26877 | 616174 |
HP:0001792 | HP:0001792 | Small nail | 0 | DNAJC21 CL E G H | 134218 | 617052 | Bone marrow failure syndrome 3 | 617052 | C4310744 | OMIM | 1 | | 187 | 27030 | 617048 |
HP:0001792 | HP:0001792 | Small nail | 0 | DNAJC21 CL E G H | 134218 | 617052 | Bone marrow failure syndrome 3 | 617052 | C4310744 | OMIM | 1 | | 91 | 27030 | 617048 |
HP:0001792 | HP:0001792 | Small nail | 0 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 472 | 19189 | 614194 |
HP:0001792 | HP:0001792 | Small nail | 0 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 361 | 19189 | 614194 |
HP:0001792 | HP:0001792 | Small nail | 0 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 86 | 3188 | 605984 |
HP:0001792 | HP:0001792 | Small nail | 0 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 80 | 3188 | 605984 |
HP:0001792 | HP:0001792 | Small nail | 0 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 704 | 3327 | 130160 |
HP:0001792 | HP:0001792 | Small nail | 0 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 657 | 3327 | 130160 |
HP:0001792 | HP:0001792 | Small nail | 0 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0001792 | HP:0001792 | Small nail | 0 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0001792 | HP:0001792 | Small nail | 0 | EVC CL E G H | 2121 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1109 | 3497 | 604831 |
HP:0001792 | HP:0001792 | Small nail | 0 | EVC CL E G H | 2121 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1014 | 3497 | 604831 |
HP:0001792 | HP:0001792 | Small nail | 0 | EVC2 CL E G H | 132884 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1047 | 19747 | 607261 |
HP:0001792 | HP:0001792 | Small nail | 0 | EVC2 CL E G H | 132884 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 929 | 19747 | 607261 |
HP:0001792 | HP:0001792 | Small nail | 0 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 501 | 3689 | 176943 |
HP:0001792 | HP:0001792 | Small nail | 0 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 466 | 3689 | 176943 |
HP:0001792 | HP:0001792 | Small nail | 0 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 177 | 24678 | 610966 |
HP:0001792 | HP:0001792 | Small nail | 0 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 152 | 24678 | 610966 |
HP:0001792 | HP:0001792 | Small nail | 0 | GDF5 CL E G H | 8200 | 228900 | Fibular hypoplasia and complex brachydactyly | 228900 | C1856738 | OMIM | 1 | | 149 | 4220 | 601146 |
HP:0001792 | HP:0001792 | Small nail | 0 | GDF5 CL E G H | 8200 | 228900 | Fibular hypoplasia and complex brachydactyly | 228900 | C1856738 | OMIM | 1 | | 124 | 4220 | 601146 |
HP:0001792 | HP:0001792 | Small nail | 0 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 223 | 4288 | 604418 |
HP:0001792 | HP:0001792 | Small nail | 0 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 214 | 4288 | 604418 |
HP:0001792 | HP:0001792 | Small nail | 0 | GPC3 CL E G H | 2719 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 783 | 4451 | 300037 |
HP:0001792 | HP:0001792 | Small nail | 0 | GPC3 CL E G H | 2719 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 694 | 4451 | 300037 |
HP:0001792 | HP:0001792 | Small nail | 0 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 783 | 4451 | 300037 |
HP:0001792 | HP:0001792 | Small nail | 0 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 694 | 4451 | 300037 |
HP:0001792 | HP:0001792 | Small nail | 0 | GPC4 CL E G H | 2239 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 217 | 4452 | 300168 |
HP:0001792 | HP:0001792 | Small nail | 0 | GPC4 CL E G H | 2239 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 212 | 4452 | 300168 |
HP:0001792 | HP:0001792 | Small nail | 0 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 217 | 4452 | 300168 |
HP:0001792 | HP:0001792 | Small nail | 0 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 212 | 4452 | 300168 |
HP:0001792 | HP:0001792 | Small nail | 0 | IHH CL E G H | 3549 | 63446 | | | | ORPHA | 1 | | 178 | 5956 | 600726 |
HP:0001792 | HP:0001792 | Small nail | 0 | IHH CL E G H | 3549 | 63446 | | | | ORPHA | 1 | | 147 | 5956 | 600726 |
HP:0001792 | HP:0001792 | Small nail | 0 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 277 | 6250 | 603305 |
HP:0001792 | HP:0001792 | Small nail | 0 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 177 | 6250 | 603305 |
HP:0001792 | HP:0001792 | Small nail | 0 | MCTP2 CL E G H | 55784 | 1596 | | | | ORPHA | 1 | | 104 | 25636 | 616297 |
HP:0001792 | HP:0001792 | Small nail | 0 | MCTP2 CL E G H | 55784 | 1596 | | | | ORPHA | 1 | | 103 | 25636 | 616297 |
HP:0001792 | HP:0001792 | Small nail | 0 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 201 | 12744 | 605678 |
HP:0001792 | HP:0001792 | Small nail | 0 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 200 | 12744 | 605678 |
HP:0001792 | HP:0001792 | Small nail | 0 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 1 | | 92 | 16002 | 609188 |
HP:0001792 | HP:0001792 | Small nail | 0 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 1 | | 63 | 16002 | 609188 |
HP:0001792 | HP:0001792 | Small nail | 0 | MSX1 CL E G H | 4487 | 189500 | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 189500 | C0406735 | OMIM | 1 | | 158 | 7391 | 142983 |
HP:0001792 | HP:0001792 | Small nail | 0 | MSX1 CL E G H | 4487 | 189500 | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 189500 | C0406735 | OMIM | 1 | | 150 | 7391 | 142983 |
HP:0001792 | HP:0001792 | Small nail | 0 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 136 | 14377 | 606470 |
HP:0001792 | HP:0001792 | Small nail | 0 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 113 | 14377 | 606470 |
HP:0001792 | HP:0001792 | Small nail | 0 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 88 | 14378 | 606471 |
HP:0001792 | HP:0001792 | Small nail | 0 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 80 | 14378 | 606471 |
HP:0001792 | HP:0001792 | Small nail | 0 | NSD1 CL E G H | 64324 | 117550 | Sotos syndrome 1 | 117550 | CN035106 | OMIM | 1 | | 1240 | 14234 | 606681 |
HP:0001792 | HP:0001792 | Small nail | 0 | NSD1 CL E G H | 64324 | 117550 | Sotos syndrome 1 | 117550 | CN035106 | OMIM | 1 | | 1154 | 14234 | 606681 |
HP:0001792 | HP:0001792 | Small nail | 0 | OFD1 CL E G H | 8481 | 300209 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 | C1846175 | OMIM | 1 | | 723 | 2567 | 300170 |
HP:0001792 | HP:0001792 | Small nail | 0 | OFD1 CL E G H | 8481 | 300209 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 | C1846175 | OMIM | 1 | | 647 | 2567 | 300170 |
HP:0001792 | HP:0001792 | Small nail | 0 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 407 | 8957 | 311770 |
HP:0001792 | HP:0001792 | Small nail | 0 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 386 | 8957 | 311770 |
HP:0001792 | HP:0001792 | Small nail | 0 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 1 | | 201 | 26031 | 610274 |
HP:0001792 | HP:0001792 | Small nail | 0 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 1 | | 131 | 26031 | 610274 |
HP:0001792 | HP:0001792 | Small nail | 0 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 1 | | 74 | 24488 | 614783 |
HP:0001792 | HP:0001792 | Small nail | 0 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 1 | | 56 | 24488 | 614783 |
HP:0001792 | HP:0001792 | Small nail | 0 | POLR3A CL E G H | 11128 | 264090 | Neonatal pseudo-hydrocephalic progeroid syndrome | 264090 | C0406586 | OMIM | 1 | | 654 | 30074 | 614258 |
HP:0001792 | HP:0001792 | Small nail | 0 | POLR3A CL E G H | 11128 | 264090 | Neonatal pseudo-hydrocephalic progeroid syndrome | 264090 | C0406586 | OMIM | 1 | | 484 | 30074 | 614258 |
HP:0001792 | HP:0001792 | Small nail | 0 | PPM1D CL E G H | 8493 | 617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 617450 | C4479517 | OMIM | 1 | | 122 | 9277 | 605100 |
HP:0001792 | HP:0001792 | Small nail | 0 | PPM1D CL E G H | 8493 | 617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 617450 | C4479517 | OMIM | 1 | | 116 | 9277 | 605100 |
HP:0001792 | HP:0001792 | Small nail | 0 | RIPK4 CL E G H | 54101 | 263650 | Popliteal pterygium syndrome lethal type | 263650 | C1849718 | OMIM | 1 | | 272 | 496 | 605706 |
HP:0001792 | HP:0001792 | Small nail | 0 | RIPK4 CL E G H | 54101 | 263650 | Popliteal pterygium syndrome lethal type | 263650 | C1849718 | OMIM | 1 | | 268 | 496 | 605706 |
HP:0001792 | HP:0001792 | Small nail | 0 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 185 | 13429 | 300379 |
HP:0001792 | HP:0001792 | Small nail | 0 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 181 | 13429 | 300379 |
HP:0001792 | HP:0001792 | Small nail | 0 | RSPO1 CL E G H | 284654 | 610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | 610644 | C3149931 | OMIM | 1 | | 33 | 21679 | 609595 |
HP:0001792 | HP:0001792 | Small nail | 0 | RSPO1 CL E G H | 284654 | 610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | 610644 | C3149931 | OMIM | 1 | | 29 | 21679 | 609595 |
HP:0001792 | HP:0001792 | Small nail | 0 | SMARCAD1 CL E G H | 56916 | 384 | | | | ORPHA | 1 | | 58 | 18398 | 612761 |
HP:0001792 | HP:0001792 | Small nail | 0 | SMARCAD1 CL E G H | 56916 | 384 | | | | ORPHA | 1 | | 56 | 18398 | 612761 |
HP:0001792 | HP:0001792 | Small nail | 0 | SMARCAD1 CL E G H | 56916 | 181600 | Keratoderma with scleroatrophy of the extremities | 181600 | C0406767 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0001792 | HP:0001792 | Small nail | 0 | SMARCAD1 CL E G H | 56916 | 181600 | Keratoderma with scleroatrophy of the extremities | 181600 | C0406767 | OMIM | 1 | | 56 | 18398 | 612761 |
HP:0001792 | HP:0001792 | Small nail | 0 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 104 | 16950 | 606247 |
HP:0001792 | HP:0001792 | Small nail | 0 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 77 | 16950 | 606247 |
HP:0001792 | HP:0001792 | Small nail | 0 | TP63 CL E G H | 8626 | 129400 | Rapp-Hodgkin ectodermal dysplasia syndrome | 129400 | C1785148 | OMIM | 1 | | 444 | 15979 | 603273 |
HP:0001792 | HP:0001792 | Small nail | 0 | TP63 CL E G H | 8626 | 129400 | Rapp-Hodgkin ectodermal dysplasia syndrome | 129400 | C1785148 | OMIM | 1 | | 376 | 15979 | 603273 |
HP:0001792 | HP:0001792 | Small nail | 0 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 131 | 25928 | 616144 |
HP:0001792 | HP:0001792 | Small nail | 0 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 129 | 25928 | 616144 |
HP:0001792 | HP:0001792 | Small nail | 0 | WNT10A CL E G H | 80326 | 224750 | Schopf-Schulz-Passarge syndrome | 224750 | C1857069 | OMIM | 1 | | 309 | 13829 | 606268 |
HP:0001792 | HP:0001792 | Small nail | 0 | WNT10A CL E G H | 80326 | 224750 | Schopf-Schulz-Passarge syndrome | 224750 | C1857069 | OMIM | 1 | | 291 | 13829 | 606268 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 244 | 14631 | 612277 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 242 | 14631 | 612277 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 244 | 14631 | 612277 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 242 | 14631 | 612277 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 166 | 23056 | 608750 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 159 | 23056 | 608750 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 166 | 23056 | 608750 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 159 | 23056 | 608750 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 442 | 11110 | 603024 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 383 | 11110 | 603024 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 442 | 11110 | 603024 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 383 | 11110 | 603024 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ATP6V1B2 CL E G H | 526 | 124480 | Deafness, congenital, with onychodystrophy, autosomal dominant | 124480 | C2675730 | OMIM | 1 | | 118 | 854 | 606939 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ATP6V1B2 CL E G H | 526 | 124480 | Deafness, congenital, with onychodystrophy, autosomal dominant | 124480 | C2675730 | OMIM | 1 | | 115 | 854 | 606939 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ATP6V1B2 CL E G H | 526 | 124480 | Deafness, congenital, with onychodystrophy, autosomal dominant | 124480 | C2675730 | OMIM | 1 | | 118 | 854 | 606939 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ATP6V1B2 CL E G H | 526 | 124480 | Deafness, congenital, with onychodystrophy, autosomal dominant | 124480 | C2675730 | OMIM | 1 | | 115 | 854 | 606939 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | BHLHA9 CL E G H | 727857 | 607539 | Camptosynpolydactyly, complex | 607539 | C1843758 | OMIM | 1 | | 141 | 35126 | 615416 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | BHLHA9 CL E G H | 727857 | 607539 | Camptosynpolydactyly, complex | 607539 | C1843758 | OMIM | 1 | | 131 | 35126 | 615416 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | BHLHA9 CL E G H | 727857 | 607539 | Camptosynpolydactyly, complex | 607539 | C1843758 | OMIM | 1 | | 141 | 35126 | 615416 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | BHLHA9 CL E G H | 727857 | 607539 | Camptosynpolydactyly, complex | 607539 | C1843758 | OMIM | 1 | | 131 | 35126 | 615416 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | CDH1 CL E G H | 999 | 119580 | Ectropion inferior cleft lip and or palate | 119580 | C1861536 | OMIM | 1 | | 3046 | 1748 | 192090 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | CDH1 CL E G H | 999 | 119580 | Ectropion inferior cleft lip and or palate | 119580 | C1861536 | OMIM | 1 | | 2818 | 1748 | 192090 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | CDH1 CL E G H | 999 | 119580 | Ectropion inferior cleft lip and or palate | 119580 | C1861536 | OMIM | 1 | | 3046 | 1748 | 192090 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | CDH1 CL E G H | 999 | 119580 | Ectropion inferior cleft lip and or palate | 119580 | C1861536 | OMIM | 1 | | 2818 | 1748 | 192090 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 94 | 26877 | 616174 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 78 | 26877 | 616174 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 94 | 26877 | 616174 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 78 | 26877 | 616174 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | DNAJC21 CL E G H | 134218 | 617052 | Bone marrow failure syndrome 3 | 617052 | C4310744 | OMIM | 1 | | 187 | 27030 | 617048 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | DNAJC21 CL E G H | 134218 | 617052 | Bone marrow failure syndrome 3 | 617052 | C4310744 | OMIM | 1 | | 91 | 27030 | 617048 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | DNAJC21 CL E G H | 134218 | 617052 | Bone marrow failure syndrome 3 | 617052 | C4310744 | OMIM | 1 | | 187 | 27030 | 617048 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | DNAJC21 CL E G H | 134218 | 617052 | Bone marrow failure syndrome 3 | 617052 | C4310744 | OMIM | 1 | | 91 | 27030 | 617048 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 472 | 19189 | 614194 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 361 | 19189 | 614194 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 472 | 19189 | 614194 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 361 | 19189 | 614194 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 86 | 3188 | 605984 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 80 | 3188 | 605984 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 86 | 3188 | 605984 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 80 | 3188 | 605984 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 704 | 3327 | 130160 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 657 | 3327 | 130160 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 704 | 3327 | 130160 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 657 | 3327 | 130160 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | EVC CL E G H | 2121 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1109 | 3497 | 604831 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | EVC CL E G H | 2121 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1014 | 3497 | 604831 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | EVC CL E G H | 2121 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1109 | 3497 | 604831 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | EVC CL E G H | 2121 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1014 | 3497 | 604831 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | EVC2 CL E G H | 132884 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1047 | 19747 | 607261 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | EVC2 CL E G H | 132884 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 929 | 19747 | 607261 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | EVC2 CL E G H | 132884 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1047 | 19747 | 607261 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | EVC2 CL E G H | 132884 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 929 | 19747 | 607261 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 501 | 3689 | 176943 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 466 | 3689 | 176943 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 501 | 3689 | 176943 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 466 | 3689 | 176943 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 177 | 24678 | 610966 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 152 | 24678 | 610966 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 177 | 24678 | 610966 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 152 | 24678 | 610966 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | GDF5 CL E G H | 8200 | 228900 | Fibular hypoplasia and complex brachydactyly | 228900 | C1856738 | OMIM | 1 | | 149 | 4220 | 601146 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | GDF5 CL E G H | 8200 | 228900 | Fibular hypoplasia and complex brachydactyly | 228900 | C1856738 | OMIM | 1 | | 124 | 4220 | 601146 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | GDF5 CL E G H | 8200 | 228900 | Fibular hypoplasia and complex brachydactyly | 228900 | C1856738 | OMIM | 1 | | 149 | 4220 | 601146 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | GDF5 CL E G H | 8200 | 228900 | Fibular hypoplasia and complex brachydactyly | 228900 | C1856738 | OMIM | 1 | | 124 | 4220 | 601146 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 223 | 4288 | 604418 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 214 | 4288 | 604418 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 223 | 4288 | 604418 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 214 | 4288 | 604418 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | GPC3 CL E G H | 2719 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 783 | 4451 | 300037 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | GPC3 CL E G H | 2719 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 694 | 4451 | 300037 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | GPC3 CL E G H | 2719 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 783 | 4451 | 300037 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | GPC3 CL E G H | 2719 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 694 | 4451 | 300037 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 783 | 4451 | 300037 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 694 | 4451 | 300037 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 783 | 4451 | 300037 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 694 | 4451 | 300037 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | GPC4 CL E G H | 2239 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 217 | 4452 | 300168 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | GPC4 CL E G H | 2239 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 212 | 4452 | 300168 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | GPC4 CL E G H | 2239 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 217 | 4452 | 300168 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | GPC4 CL E G H | 2239 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 212 | 4452 | 300168 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 217 | 4452 | 300168 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 212 | 4452 | 300168 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 217 | 4452 | 300168 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 212 | 4452 | 300168 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | IHH CL E G H | 3549 | 63446 | | | | ORPHA | 1 | | 178 | 5956 | 600726 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | IHH CL E G H | 3549 | 63446 | | | | ORPHA | 1 | | 147 | 5956 | 600726 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | IHH CL E G H | 3549 | 63446 | | | | ORPHA | 1 | | 178 | 5956 | 600726 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | IHH CL E G H | 3549 | 63446 | | | | ORPHA | 1 | | 147 | 5956 | 600726 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 277 | 6250 | 603305 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 177 | 6250 | 603305 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 277 | 6250 | 603305 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 177 | 6250 | 603305 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | MCTP2 CL E G H | 55784 | 1596 | | | | ORPHA | 1 | | 104 | 25636 | 616297 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | MCTP2 CL E G H | 55784 | 1596 | | | | ORPHA | 1 | | 103 | 25636 | 616297 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | MCTP2 CL E G H | 55784 | 1596 | | | | ORPHA | 1 | | 104 | 25636 | 616297 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | MCTP2 CL E G H | 55784 | 1596 | | | | ORPHA | 1 | | 103 | 25636 | 616297 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 201 | 12744 | 605678 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 200 | 12744 | 605678 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 201 | 12744 | 605678 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 200 | 12744 | 605678 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 1 | | 92 | 16002 | 609188 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 1 | | 63 | 16002 | 609188 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 1 | | 92 | 16002 | 609188 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 1 | | 63 | 16002 | 609188 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | MSX1 CL E G H | 4487 | 189500 | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 189500 | C0406735 | OMIM | 1 | | 158 | 7391 | 142983 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | MSX1 CL E G H | 4487 | 189500 | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 189500 | C0406735 | OMIM | 1 | | 150 | 7391 | 142983 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | MSX1 CL E G H | 4487 | 189500 | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 189500 | C0406735 | OMIM | 1 | | 158 | 7391 | 142983 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | MSX1 CL E G H | 4487 | 189500 | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 189500 | C0406735 | OMIM | 1 | | 150 | 7391 | 142983 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 136 | 14377 | 606470 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 113 | 14377 | 606470 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 136 | 14377 | 606470 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 113 | 14377 | 606470 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 88 | 14378 | 606471 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 80 | 14378 | 606471 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 88 | 14378 | 606471 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 80 | 14378 | 606471 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | NSD1 CL E G H | 64324 | 117550 | Sotos syndrome 1 | 117550 | CN035106 | OMIM | 1 | | 1240 | 14234 | 606681 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | NSD1 CL E G H | 64324 | 117550 | Sotos syndrome 1 | 117550 | CN035106 | OMIM | 1 | | 1154 | 14234 | 606681 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | NSD1 CL E G H | 64324 | 117550 | Sotos syndrome 1 | 117550 | CN035106 | OMIM | 1 | | 1240 | 14234 | 606681 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | NSD1 CL E G H | 64324 | 117550 | Sotos syndrome 1 | 117550 | CN035106 | OMIM | 1 | | 1154 | 14234 | 606681 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | OFD1 CL E G H | 8481 | 300209 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 | C1846175 | OMIM | 1 | | 723 | 2567 | 300170 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | OFD1 CL E G H | 8481 | 300209 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 | C1846175 | OMIM | 1 | | 647 | 2567 | 300170 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | OFD1 CL E G H | 8481 | 300209 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 | C1846175 | OMIM | 1 | | 723 | 2567 | 300170 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | OFD1 CL E G H | 8481 | 300209 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 | C1846175 | OMIM | 1 | | 647 | 2567 | 300170 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 407 | 8957 | 311770 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 386 | 8957 | 311770 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 407 | 8957 | 311770 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 386 | 8957 | 311770 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 1 | | 201 | 26031 | 610274 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 1 | | 131 | 26031 | 610274 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 1 | | 201 | 26031 | 610274 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 1 | | 131 | 26031 | 610274 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 1 | | 74 | 24488 | 614783 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 1 | | 56 | 24488 | 614783 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 1 | | 74 | 24488 | 614783 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 1 | | 56 | 24488 | 614783 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | POLR3A CL E G H | 11128 | 264090 | Neonatal pseudo-hydrocephalic progeroid syndrome | 264090 | C0406586 | OMIM | 1 | | 654 | 30074 | 614258 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | POLR3A CL E G H | 11128 | 264090 | Neonatal pseudo-hydrocephalic progeroid syndrome | 264090 | C0406586 | OMIM | 1 | | 484 | 30074 | 614258 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | POLR3A CL E G H | 11128 | 264090 | Neonatal pseudo-hydrocephalic progeroid syndrome | 264090 | C0406586 | OMIM | 1 | | 654 | 30074 | 614258 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | POLR3A CL E G H | 11128 | 264090 | Neonatal pseudo-hydrocephalic progeroid syndrome | 264090 | C0406586 | OMIM | 1 | | 484 | 30074 | 614258 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | PPM1D CL E G H | 8493 | 617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 617450 | C4479517 | OMIM | 1 | | 122 | 9277 | 605100 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | PPM1D CL E G H | 8493 | 617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 617450 | C4479517 | OMIM | 1 | | 116 | 9277 | 605100 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | PPM1D CL E G H | 8493 | 617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 617450 | C4479517 | OMIM | 1 | | 122 | 9277 | 605100 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | PPM1D CL E G H | 8493 | 617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 617450 | C4479517 | OMIM | 1 | | 116 | 9277 | 605100 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | RIPK4 CL E G H | 54101 | 263650 | Popliteal pterygium syndrome lethal type | 263650 | C1849718 | OMIM | 1 | | 272 | 496 | 605706 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | RIPK4 CL E G H | 54101 | 263650 | Popliteal pterygium syndrome lethal type | 263650 | C1849718 | OMIM | 1 | | 268 | 496 | 605706 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | RIPK4 CL E G H | 54101 | 263650 | Popliteal pterygium syndrome lethal type | 263650 | C1849718 | OMIM | 1 | | 272 | 496 | 605706 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | RIPK4 CL E G H | 54101 | 263650 | Popliteal pterygium syndrome lethal type | 263650 | C1849718 | OMIM | 1 | | 268 | 496 | 605706 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 185 | 13429 | 300379 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 181 | 13429 | 300379 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 185 | 13429 | 300379 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 181 | 13429 | 300379 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | RSPO1 CL E G H | 284654 | 610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | 610644 | C3149931 | OMIM | 1 | | 33 | 21679 | 609595 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | RSPO1 CL E G H | 284654 | 610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | 610644 | C3149931 | OMIM | 1 | | 29 | 21679 | 609595 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | RSPO1 CL E G H | 284654 | 610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | 610644 | C3149931 | OMIM | 1 | | 33 | 21679 | 609595 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | RSPO1 CL E G H | 284654 | 610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | 610644 | C3149931 | OMIM | 1 | | 29 | 21679 | 609595 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | SMARCAD1 CL E G H | 56916 | 384 | | | | ORPHA | 1 | | 58 | 18398 | 612761 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | SMARCAD1 CL E G H | 56916 | 384 | | | | ORPHA | 1 | | 56 | 18398 | 612761 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | SMARCAD1 CL E G H | 56916 | 384 | | | | ORPHA | 1 | | 58 | 18398 | 612761 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | SMARCAD1 CL E G H | 56916 | 384 | | | | ORPHA | 1 | | 56 | 18398 | 612761 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | SMARCAD1 CL E G H | 56916 | 181600 | Keratoderma with scleroatrophy of the extremities | 181600 | C0406767 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | SMARCAD1 CL E G H | 56916 | 181600 | Keratoderma with scleroatrophy of the extremities | 181600 | C0406767 | OMIM | 1 | | 56 | 18398 | 612761 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | SMARCAD1 CL E G H | 56916 | 181600 | Keratoderma with scleroatrophy of the extremities | 181600 | C0406767 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | SMARCAD1 CL E G H | 56916 | 181600 | Keratoderma with scleroatrophy of the extremities | 181600 | C0406767 | OMIM | 1 | | 56 | 18398 | 612761 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 104 | 16950 | 606247 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 77 | 16950 | 606247 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 104 | 16950 | 606247 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 77 | 16950 | 606247 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | TP63 CL E G H | 8626 | 129400 | Rapp-Hodgkin ectodermal dysplasia syndrome | 129400 | C1785148 | OMIM | 1 | | 444 | 15979 | 603273 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | TP63 CL E G H | 8626 | 129400 | Rapp-Hodgkin ectodermal dysplasia syndrome | 129400 | C1785148 | OMIM | 1 | | 376 | 15979 | 603273 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | TP63 CL E G H | 8626 | 129400 | Rapp-Hodgkin ectodermal dysplasia syndrome | 129400 | C1785148 | OMIM | 1 | | 444 | 15979 | 603273 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | TP63 CL E G H | 8626 | 129400 | Rapp-Hodgkin ectodermal dysplasia syndrome | 129400 | C1785148 | OMIM | 1 | | 376 | 15979 | 603273 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 131 | 25928 | 616144 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 129 | 25928 | 616144 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 131 | 25928 | 616144 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 129 | 25928 | 616144 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | WNT10A CL E G H | 80326 | 224750 | Schopf-Schulz-Passarge syndrome | 224750 | C1857069 | OMIM | 1 | | 309 | 13829 | 606268 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | WNT10A CL E G H | 80326 | 224750 | Schopf-Schulz-Passarge syndrome | 224750 | C1857069 | OMIM | 1 | | 291 | 13829 | 606268 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | WNT10A CL E G H | 80326 | 224750 | Schopf-Schulz-Passarge syndrome | 224750 | C1857069 | OMIM | 1 | | 309 | 13829 | 606268 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | WNT10A CL E G H | 80326 | 224750 | Schopf-Schulz-Passarge syndrome | 224750 | C1857069 | OMIM | 1 | | 291 | 13829 | 606268 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 244 | 14631 | 612277 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 244 | 14631 | 612277 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 242 | 14631 | 612277 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 242 | 14631 | 612277 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 244 | 14631 | 612277 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 242 | 14631 | 612277 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 166 | 23056 | 608750 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 166 | 23056 | 608750 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 159 | 23056 | 608750 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 159 | 23056 | 608750 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 166 | 23056 | 608750 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ALG3 CL E G H | 10195 | 601110 | Congenital disorder of glycosylation type 1D | 601110 | C1832736 | OMIM | 1 | | 159 | 23056 | 608750 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 442 | 11110 | 603024 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 442 | 11110 | 603024 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 383 | 11110 | 603024 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 383 | 11110 | 603024 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 442 | 11110 | 603024 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 383 | 11110 | 603024 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ATP6V1B2 CL E G H | 526 | 124480 | Deafness, congenital, with onychodystrophy, autosomal dominant | 124480 | C2675730 | OMIM | 1 | | 118 | 854 | 606939 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ATP6V1B2 CL E G H | 526 | 124480 | Deafness, congenital, with onychodystrophy, autosomal dominant | 124480 | C2675730 | OMIM | 1 | | 118 | 854 | 606939 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ATP6V1B2 CL E G H | 526 | 124480 | Deafness, congenital, with onychodystrophy, autosomal dominant | 124480 | C2675730 | OMIM | 1 | | 115 | 854 | 606939 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ATP6V1B2 CL E G H | 526 | 124480 | Deafness, congenital, with onychodystrophy, autosomal dominant | 124480 | C2675730 | OMIM | 1 | | 115 | 854 | 606939 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ATP6V1B2 CL E G H | 526 | 124480 | Deafness, congenital, with onychodystrophy, autosomal dominant | 124480 | C2675730 | OMIM | 1 | | 118 | 854 | 606939 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ATP6V1B2 CL E G H | 526 | 124480 | Deafness, congenital, with onychodystrophy, autosomal dominant | 124480 | C2675730 | OMIM | 1 | | 115 | 854 | 606939 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | BHLHA9 CL E G H | 727857 | 607539 | Camptosynpolydactyly, complex | 607539 | C1843758 | OMIM | 1 | | 141 | 35126 | 615416 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | BHLHA9 CL E G H | 727857 | 607539 | Camptosynpolydactyly, complex | 607539 | C1843758 | OMIM | 1 | | 141 | 35126 | 615416 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | BHLHA9 CL E G H | 727857 | 607539 | Camptosynpolydactyly, complex | 607539 | C1843758 | OMIM | 1 | | 131 | 35126 | 615416 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | BHLHA9 CL E G H | 727857 | 607539 | Camptosynpolydactyly, complex | 607539 | C1843758 | OMIM | 1 | | 131 | 35126 | 615416 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | BHLHA9 CL E G H | 727857 | 607539 | Camptosynpolydactyly, complex | 607539 | C1843758 | OMIM | 1 | | 141 | 35126 | 615416 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | BHLHA9 CL E G H | 727857 | 607539 | Camptosynpolydactyly, complex | 607539 | C1843758 | OMIM | 1 | | 131 | 35126 | 615416 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | CDH1 CL E G H | 999 | 119580 | Ectropion inferior cleft lip and or palate | 119580 | C1861536 | OMIM | 1 | | 3046 | 1748 | 192090 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | CDH1 CL E G H | 999 | 119580 | Ectropion inferior cleft lip and or palate | 119580 | C1861536 | OMIM | 1 | | 3046 | 1748 | 192090 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | CDH1 CL E G H | 999 | 119580 | Ectropion inferior cleft lip and or palate | 119580 | C1861536 | OMIM | 1 | | 2818 | 1748 | 192090 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | CDH1 CL E G H | 999 | 119580 | Ectropion inferior cleft lip and or palate | 119580 | C1861536 | OMIM | 1 | | 2818 | 1748 | 192090 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | CDH1 CL E G H | 999 | 119580 | Ectropion inferior cleft lip and or palate | 119580 | C1861536 | OMIM | 1 | | 3046 | 1748 | 192090 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | CDH1 CL E G H | 999 | 119580 | Ectropion inferior cleft lip and or palate | 119580 | C1861536 | OMIM | 1 | | 2818 | 1748 | 192090 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 94 | 26877 | 616174 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 78 | 26877 | 616174 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 94 | 26877 | 616174 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 94 | 26877 | 616174 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 78 | 26877 | 616174 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 78 | 26877 | 616174 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | DNAJC21 CL E G H | 134218 | 617052 | Bone marrow failure syndrome 3 | 617052 | C4310744 | OMIM | 1 | | 187 | 27030 | 617048 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | DNAJC21 CL E G H | 134218 | 617052 | Bone marrow failure syndrome 3 | 617052 | C4310744 | OMIM | 1 | | 91 | 27030 | 617048 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | DNAJC21 CL E G H | 134218 | 617052 | Bone marrow failure syndrome 3 | 617052 | C4310744 | OMIM | 1 | | 187 | 27030 | 617048 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | DNAJC21 CL E G H | 134218 | 617052 | Bone marrow failure syndrome 3 | 617052 | C4310744 | OMIM | 1 | | 187 | 27030 | 617048 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | DNAJC21 CL E G H | 134218 | 617052 | Bone marrow failure syndrome 3 | 617052 | C4310744 | OMIM | 1 | | 91 | 27030 | 617048 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | DNAJC21 CL E G H | 134218 | 617052 | Bone marrow failure syndrome 3 | 617052 | C4310744 | OMIM | 1 | | 91 | 27030 | 617048 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 472 | 19189 | 614194 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 472 | 19189 | 614194 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 361 | 19189 | 614194 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 361 | 19189 | 614194 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 472 | 19189 | 614194 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | DOCK6 CL E G H | 57572 | 614219 | Adams-Oliver syndrome 2 | 614219 | C3280182 | OMIM | 1 | | 361 | 19189 | 614194 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 86 | 3188 | 605984 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 80 | 3188 | 605984 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 86 | 3188 | 605984 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 86 | 3188 | 605984 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 80 | 3188 | 605984 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 80 | 3188 | 605984 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 704 | 3327 | 130160 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 704 | 3327 | 130160 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 657 | 3327 | 130160 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 657 | 3327 | 130160 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 704 | 3327 | 130160 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 657 | 3327 | 130160 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | EVC CL E G H | 2121 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1109 | 3497 | 604831 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | EVC CL E G H | 2121 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1109 | 3497 | 604831 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | EVC CL E G H | 2121 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1014 | 3497 | 604831 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | EVC CL E G H | 2121 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1014 | 3497 | 604831 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | EVC CL E G H | 2121 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1109 | 3497 | 604831 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | EVC CL E G H | 2121 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1014 | 3497 | 604831 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | EVC2 CL E G H | 132884 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1047 | 19747 | 607261 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | EVC2 CL E G H | 132884 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1047 | 19747 | 607261 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | EVC2 CL E G H | 132884 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 929 | 19747 | 607261 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | EVC2 CL E G H | 132884 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 929 | 19747 | 607261 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | EVC2 CL E G H | 132884 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 1047 | 19747 | 607261 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | EVC2 CL E G H | 132884 | 193530 | Curry-Hall syndrome | 193530 | C0457013 | OMIM | 1 | | 929 | 19747 | 607261 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 501 | 3689 | 176943 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 501 | 3689 | 176943 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 466 | 3689 | 176943 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 466 | 3689 | 176943 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 501 | 3689 | 176943 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 466 | 3689 | 176943 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 177 | 24678 | 610966 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 177 | 24678 | 610966 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 152 | 24678 | 610966 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 152 | 24678 | 610966 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 177 | 24678 | 610966 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 152 | 24678 | 610966 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | GDF5 CL E G H | 8200 | 228900 | Fibular hypoplasia and complex brachydactyly | 228900 | C1856738 | OMIM | 1 | | 149 | 4220 | 601146 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | GDF5 CL E G H | 8200 | 228900 | Fibular hypoplasia and complex brachydactyly | 228900 | C1856738 | OMIM | 1 | | 149 | 4220 | 601146 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | GDF5 CL E G H | 8200 | 228900 | Fibular hypoplasia and complex brachydactyly | 228900 | C1856738 | OMIM | 1 | | 124 | 4220 | 601146 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | GDF5 CL E G H | 8200 | 228900 | Fibular hypoplasia and complex brachydactyly | 228900 | C1856738 | OMIM | 1 | | 124 | 4220 | 601146 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | GDF5 CL E G H | 8200 | 228900 | Fibular hypoplasia and complex brachydactyly | 228900 | C1856738 | OMIM | 1 | | 149 | 4220 | 601146 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | GDF5 CL E G H | 8200 | 228900 | Fibular hypoplasia and complex brachydactyly | 228900 | C1856738 | OMIM | 1 | | 124 | 4220 | 601146 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 223 | 4288 | 604418 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 223 | 4288 | 604418 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 214 | 4288 | 604418 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 214 | 4288 | 604418 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 223 | 4288 | 604418 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 214 | 4288 | 604418 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | GPC3 CL E G H | 2719 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 783 | 4451 | 300037 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | GPC3 CL E G H | 2719 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 694 | 4451 | 300037 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | GPC3 CL E G H | 2719 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 783 | 4451 | 300037 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | GPC3 CL E G H | 2719 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 783 | 4451 | 300037 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | GPC3 CL E G H | 2719 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 694 | 4451 | 300037 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | GPC3 CL E G H | 2719 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 694 | 4451 | 300037 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 783 | 4451 | 300037 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 783 | 4451 | 300037 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 694 | 4451 | 300037 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 694 | 4451 | 300037 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 783 | 4451 | 300037 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 694 | 4451 | 300037 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | GPC4 CL E G H | 2239 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 217 | 4452 | 300168 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | GPC4 CL E G H | 2239 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 212 | 4452 | 300168 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | GPC4 CL E G H | 2239 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 217 | 4452 | 300168 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | GPC4 CL E G H | 2239 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 217 | 4452 | 300168 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | GPC4 CL E G H | 2239 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 212 | 4452 | 300168 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | GPC4 CL E G H | 2239 | 373 | Quinquaud's decalvans folliculitis | | | ORPHA | 1 | | 212 | 4452 | 300168 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 217 | 4452 | 300168 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 217 | 4452 | 300168 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 212 | 4452 | 300168 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 212 | 4452 | 300168 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 217 | 4452 | 300168 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 212 | 4452 | 300168 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | IHH CL E G H | 3549 | 63446 | | | | ORPHA | 1 | | 178 | 5956 | 600726 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | IHH CL E G H | 3549 | 63446 | | | | ORPHA | 1 | | 147 | 5956 | 600726 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | IHH CL E G H | 3549 | 63446 | | | | ORPHA | 1 | | 178 | 5956 | 600726 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | IHH CL E G H | 3549 | 63446 | | | | ORPHA | 1 | | 178 | 5956 | 600726 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | IHH CL E G H | 3549 | 63446 | | | | ORPHA | 1 | | 147 | 5956 | 600726 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | IHH CL E G H | 3549 | 63446 | | | | ORPHA | 1 | | 147 | 5956 | 600726 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 277 | 6250 | 603305 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 277 | 6250 | 603305 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 177 | 6250 | 603305 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 177 | 6250 | 603305 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 277 | 6250 | 603305 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 177 | 6250 | 603305 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | MCTP2 CL E G H | 55784 | 1596 | | | | ORPHA | 1 | | 104 | 25636 | 616297 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | MCTP2 CL E G H | 55784 | 1596 | | | | ORPHA | 1 | | 103 | 25636 | 616297 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | MCTP2 CL E G H | 55784 | 1596 | | | | ORPHA | 1 | | 104 | 25636 | 616297 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | MCTP2 CL E G H | 55784 | 1596 | | | | ORPHA | 1 | | 104 | 25636 | 616297 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | MCTP2 CL E G H | 55784 | 1596 | | | | ORPHA | 1 | | 103 | 25636 | 616297 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | MCTP2 CL E G H | 55784 | 1596 | | | | ORPHA | 1 | | 103 | 25636 | 616297 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 201 | 12744 | 605678 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 201 | 12744 | 605678 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 200 | 12744 | 605678 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 200 | 12744 | 605678 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 201 | 12744 | 605678 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 200 | 12744 | 605678 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 1 | | 92 | 16002 | 609188 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 1 | | 92 | 16002 | 609188 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 1 | | 63 | 16002 | 609188 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 1 | | 63 | 16002 | 609188 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 1 | | 92 | 16002 | 609188 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 1 | | 63 | 16002 | 609188 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | MSX1 CL E G H | 4487 | 189500 | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 189500 | C0406735 | OMIM | 1 | | 158 | 7391 | 142983 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | MSX1 CL E G H | 4487 | 189500 | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 189500 | C0406735 | OMIM | 1 | | 158 | 7391 | 142983 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | MSX1 CL E G H | 4487 | 189500 | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 189500 | C0406735 | OMIM | 1 | | 150 | 7391 | 142983 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | MSX1 CL E G H | 4487 | 189500 | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 189500 | C0406735 | OMIM | 1 | | 150 | 7391 | 142983 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | MSX1 CL E G H | 4487 | 189500 | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 189500 | C0406735 | OMIM | 1 | | 158 | 7391 | 142983 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | MSX1 CL E G H | 4487 | 189500 | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 189500 | C0406735 | OMIM | 1 | | 150 | 7391 | 142983 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 136 | 14377 | 606470 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 136 | 14377 | 606470 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 113 | 14377 | 606470 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 113 | 14377 | 606470 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 136 | 14377 | 606470 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 113 | 14377 | 606470 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 88 | 14378 | 606471 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 88 | 14378 | 606471 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 80 | 14378 | 606471 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 80 | 14378 | 606471 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 88 | 14378 | 606471 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 80 | 14378 | 606471 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | NSD1 CL E G H | 64324 | 117550 | Sotos syndrome 1 | 117550 | CN035106 | OMIM | 1 | | 1240 | 14234 | 606681 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | NSD1 CL E G H | 64324 | 117550 | Sotos syndrome 1 | 117550 | CN035106 | OMIM | 1 | | 1240 | 14234 | 606681 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | NSD1 CL E G H | 64324 | 117550 | Sotos syndrome 1 | 117550 | CN035106 | OMIM | 1 | | 1154 | 14234 | 606681 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | NSD1 CL E G H | 64324 | 117550 | Sotos syndrome 1 | 117550 | CN035106 | OMIM | 1 | | 1154 | 14234 | 606681 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | NSD1 CL E G H | 64324 | 117550 | Sotos syndrome 1 | 117550 | CN035106 | OMIM | 1 | | 1240 | 14234 | 606681 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | NSD1 CL E G H | 64324 | 117550 | Sotos syndrome 1 | 117550 | CN035106 | OMIM | 1 | | 1154 | 14234 | 606681 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | OFD1 CL E G H | 8481 | 300209 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 | C1846175 | OMIM | 1 | | 723 | 2567 | 300170 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | OFD1 CL E G H | 8481 | 300209 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 | C1846175 | OMIM | 1 | | 723 | 2567 | 300170 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | OFD1 CL E G H | 8481 | 300209 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 | C1846175 | OMIM | 1 | | 647 | 2567 | 300170 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | OFD1 CL E G H | 8481 | 300209 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 | C1846175 | OMIM | 1 | | 647 | 2567 | 300170 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | OFD1 CL E G H | 8481 | 300209 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 | C1846175 | OMIM | 1 | | 723 | 2567 | 300170 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | OFD1 CL E G H | 8481 | 300209 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 | C1846175 | OMIM | 1 | | 647 | 2567 | 300170 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 407 | 8957 | 311770 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 407 | 8957 | 311770 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 386 | 8957 | 311770 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 386 | 8957 | 311770 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 407 | 8957 | 311770 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | PIGA CL E G H | 5277 | 300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | C3275508 | OMIM | 1 | | 386 | 8957 | 311770 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 1 | | 201 | 26031 | 610274 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 1 | | 201 | 26031 | 610274 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 1 | | 131 | 26031 | 610274 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 1 | | 131 | 26031 | 610274 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 1 | | 201 | 26031 | 610274 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 1 | | 131 | 26031 | 610274 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 1 | | 74 | 24488 | 614783 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 1 | | 74 | 24488 | 614783 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 1 | | 56 | 24488 | 614783 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 1 | | 56 | 24488 | 614783 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 1 | | 74 | 24488 | 614783 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | POC1A CL E G H | 25886 | 614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | 614813 | C3542022 | OMIM | 1 | | 56 | 24488 | 614783 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | POLR3A CL E G H | 11128 | 264090 | Neonatal pseudo-hydrocephalic progeroid syndrome | 264090 | C0406586 | OMIM | 1 | | 654 | 30074 | 614258 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | POLR3A CL E G H | 11128 | 264090 | Neonatal pseudo-hydrocephalic progeroid syndrome | 264090 | C0406586 | OMIM | 1 | | 654 | 30074 | 614258 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | POLR3A CL E G H | 11128 | 264090 | Neonatal pseudo-hydrocephalic progeroid syndrome | 264090 | C0406586 | OMIM | 1 | | 484 | 30074 | 614258 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | POLR3A CL E G H | 11128 | 264090 | Neonatal pseudo-hydrocephalic progeroid syndrome | 264090 | C0406586 | OMIM | 1 | | 484 | 30074 | 614258 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | POLR3A CL E G H | 11128 | 264090 | Neonatal pseudo-hydrocephalic progeroid syndrome | 264090 | C0406586 | OMIM | 1 | | 654 | 30074 | 614258 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | POLR3A CL E G H | 11128 | 264090 | Neonatal pseudo-hydrocephalic progeroid syndrome | 264090 | C0406586 | OMIM | 1 | | 484 | 30074 | 614258 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | PPM1D CL E G H | 8493 | 617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 617450 | C4479517 | OMIM | 1 | | 122 | 9277 | 605100 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | PPM1D CL E G H | 8493 | 617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 617450 | C4479517 | OMIM | 1 | | 116 | 9277 | 605100 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | PPM1D CL E G H | 8493 | 617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 617450 | C4479517 | OMIM | 1 | | 122 | 9277 | 605100 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | PPM1D CL E G H | 8493 | 617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 617450 | C4479517 | OMIM | 1 | | 122 | 9277 | 605100 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | PPM1D CL E G H | 8493 | 617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 617450 | C4479517 | OMIM | 1 | | 116 | 9277 | 605100 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | PPM1D CL E G H | 8493 | 617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 617450 | C4479517 | OMIM | 1 | | 116 | 9277 | 605100 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | RIPK4 CL E G H | 54101 | 263650 | Popliteal pterygium syndrome lethal type | 263650 | C1849718 | OMIM | 1 | | 272 | 496 | 605706 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | RIPK4 CL E G H | 54101 | 263650 | Popliteal pterygium syndrome lethal type | 263650 | C1849718 | OMIM | 1 | | 272 | 496 | 605706 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | RIPK4 CL E G H | 54101 | 263650 | Popliteal pterygium syndrome lethal type | 263650 | C1849718 | OMIM | 1 | | 268 | 496 | 605706 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | RIPK4 CL E G H | 54101 | 263650 | Popliteal pterygium syndrome lethal type | 263650 | C1849718 | OMIM | 1 | | 268 | 496 | 605706 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | RIPK4 CL E G H | 54101 | 263650 | Popliteal pterygium syndrome lethal type | 263650 | C1849718 | OMIM | 1 | | 272 | 496 | 605706 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | RIPK4 CL E G H | 54101 | 263650 | Popliteal pterygium syndrome lethal type | 263650 | C1849718 | OMIM | 1 | | 268 | 496 | 605706 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 185 | 13429 | 300379 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 185 | 13429 | 300379 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 181 | 13429 | 300379 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 181 | 13429 | 300379 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 185 | 13429 | 300379 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 181 | 13429 | 300379 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | RSPO1 CL E G H | 284654 | 610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | 610644 | C3149931 | OMIM | 1 | | 33 | 21679 | 609595 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | RSPO1 CL E G H | 284654 | 610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | 610644 | C3149931 | OMIM | 1 | | 33 | 21679 | 609595 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | RSPO1 CL E G H | 284654 | 610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | 610644 | C3149931 | OMIM | 1 | | 29 | 21679 | 609595 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | RSPO1 CL E G H | 284654 | 610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | 610644 | C3149931 | OMIM | 1 | | 29 | 21679 | 609595 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | RSPO1 CL E G H | 284654 | 610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | 610644 | C3149931 | OMIM | 1 | | 33 | 21679 | 609595 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | RSPO1 CL E G H | 284654 | 610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | 610644 | C3149931 | OMIM | 1 | | 29 | 21679 | 609595 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | SMARCAD1 CL E G H | 56916 | 384 | | | | ORPHA | 1 | | 58 | 18398 | 612761 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | SMARCAD1 CL E G H | 56916 | 384 | | | | ORPHA | 1 | | 56 | 18398 | 612761 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | SMARCAD1 CL E G H | 56916 | 384 | | | | ORPHA | 1 | | 58 | 18398 | 612761 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | SMARCAD1 CL E G H | 56916 | 384 | | | | ORPHA | 1 | | 58 | 18398 | 612761 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | SMARCAD1 CL E G H | 56916 | 384 | | | | ORPHA | 1 | | 56 | 18398 | 612761 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | SMARCAD1 CL E G H | 56916 | 384 | | | | ORPHA | 1 | | 56 | 18398 | 612761 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | SMARCAD1 CL E G H | 56916 | 181600 | Keratoderma with scleroatrophy of the extremities | 181600 | C0406767 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | SMARCAD1 CL E G H | 56916 | 181600 | Keratoderma with scleroatrophy of the extremities | 181600 | C0406767 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | SMARCAD1 CL E G H | 56916 | 181600 | Keratoderma with scleroatrophy of the extremities | 181600 | C0406767 | OMIM | 1 | | 56 | 18398 | 612761 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | SMARCAD1 CL E G H | 56916 | 181600 | Keratoderma with scleroatrophy of the extremities | 181600 | C0406767 | OMIM | 1 | | 56 | 18398 | 612761 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | SMARCAD1 CL E G H | 56916 | 181600 | Keratoderma with scleroatrophy of the extremities | 181600 | C0406767 | OMIM | 1 | | 58 | 18398 | 612761 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | SMARCAD1 CL E G H | 56916 | 181600 | Keratoderma with scleroatrophy of the extremities | 181600 | C0406767 | OMIM | 1 | | 56 | 18398 | 612761 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 104 | 16950 | 606247 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 104 | 16950 | 606247 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 77 | 16950 | 606247 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 77 | 16950 | 606247 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 104 | 16950 | 606247 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 77 | 16950 | 606247 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | TP63 CL E G H | 8626 | 129400 | Rapp-Hodgkin ectodermal dysplasia syndrome | 129400 | C1785148 | OMIM | 1 | | 444 | 15979 | 603273 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | TP63 CL E G H | 8626 | 129400 | Rapp-Hodgkin ectodermal dysplasia syndrome | 129400 | C1785148 | OMIM | 1 | | 444 | 15979 | 603273 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | TP63 CL E G H | 8626 | 129400 | Rapp-Hodgkin ectodermal dysplasia syndrome | 129400 | C1785148 | OMIM | 1 | | 376 | 15979 | 603273 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | TP63 CL E G H | 8626 | 129400 | Rapp-Hodgkin ectodermal dysplasia syndrome | 129400 | C1785148 | OMIM | 1 | | 376 | 15979 | 603273 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | TP63 CL E G H | 8626 | 129400 | Rapp-Hodgkin ectodermal dysplasia syndrome | 129400 | C1785148 | OMIM | 1 | | 444 | 15979 | 603273 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | TP63 CL E G H | 8626 | 129400 | Rapp-Hodgkin ectodermal dysplasia syndrome | 129400 | C1785148 | OMIM | 1 | | 376 | 15979 | 603273 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 131 | 25928 | 616144 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 131 | 25928 | 616144 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 129 | 25928 | 616144 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 129 | 25928 | 616144 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 131 | 25928 | 616144 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 129 | 25928 | 616144 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | WNT10A CL E G H | 80326 | 224750 | Schopf-Schulz-Passarge syndrome | 224750 | C1857069 | OMIM | 1 | | 309 | 13829 | 606268 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | WNT10A CL E G H | 80326 | 224750 | Schopf-Schulz-Passarge syndrome | 224750 | C1857069 | OMIM | 1 | | 309 | 13829 | 606268 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | WNT10A CL E G H | 80326 | 224750 | Schopf-Schulz-Passarge syndrome | 224750 | C1857069 | OMIM | 1 | | 291 | 13829 | 606268 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | WNT10A CL E G H | 80326 | 224750 | Schopf-Schulz-Passarge syndrome | 224750 | C1857069 | OMIM | 1 | | 291 | 13829 | 606268 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | WNT10A CL E G H | 80326 | 224750 | Schopf-Schulz-Passarge syndrome | 224750 | C1857069 | OMIM | 1 | | 309 | 13829 | 606268 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | WNT10A CL E G H | 80326 | 224750 | Schopf-Schulz-Passarge syndrome | 224750 | C1857069 | OMIM | 1 | | 291 | 13829 | 606268 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001792 | HP:0001792 | Small nail | 0 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 291 | 430 | 603741 |
HP:0001792 | HP:0001792 | Small nail | 0 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 285 | 430 | 603741 |
HP:0001792 | HP:0001792 | Small nail | 0 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 209 | 13743 | 607206 |
HP:0001792 | HP:0001792 | Small nail | 0 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 202 | 13743 | 607206 |
HP:0001792 | HP:0001792 | Small nail | 0 | C15orf41 CL E G H | 84529 | 615631 | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | 615631 | C3810185 | OMIM | 0 | | | 26929 | 615626 |
HP:0001792 | HP:0001792 | Small nail | 0 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 0 | | 196 | 10664 | 617170 |
HP:0001792 | HP:0001792 | Small nail | 0 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 0 | | 135 | 10664 | 617170 |
HP:0001792 | HP:0001792 | Small nail | 0 | POP1 CL E G H | 10940 | 617396 | Anauxetic dysplasia 2 | 617396 | C4479357 | OMIM | 0 | | 160 | 30129 | 602486 |
HP:0001792 | HP:0001792 | Small nail | 0 | POP1 CL E G H | 10940 | 617396 | Anauxetic dysplasia 2 | 617396 | C4479357 | OMIM | 0 | | 95 | 30129 | 602486 |
HP:0001792 | HP:0001792 | Small nail | 0 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 0 | | 78 | 20662 | 608744 |
HP:0001792 | HP:0001792 | Small nail | 0 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 0 | | 73 | 20662 | 608744 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 291 | 430 | 603741 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 285 | 430 | 603741 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 291 | 430 | 603741 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 285 | 430 | 603741 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 209 | 13743 | 607206 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 202 | 13743 | 607206 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 209 | 13743 | 607206 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 202 | 13743 | 607206 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | C15orf41 CL E G H | 84529 | 615631 | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | 615631 | C3810185 | OMIM | 0 | | | 26929 | 615626 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | C15orf41 CL E G H | 84529 | 615631 | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | 615631 | C3810185 | OMIM | 0 | | | 26929 | 615626 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 0 | | 196 | 10664 | 617170 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 0 | | 135 | 10664 | 617170 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 0 | | 196 | 10664 | 617170 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 0 | | 135 | 10664 | 617170 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | POP1 CL E G H | 10940 | 617396 | Anauxetic dysplasia 2 | 617396 | C4479357 | OMIM | 0 | | 160 | 30129 | 602486 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | POP1 CL E G H | 10940 | 617396 | Anauxetic dysplasia 2 | 617396 | C4479357 | OMIM | 0 | | 95 | 30129 | 602486 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | POP1 CL E G H | 10940 | 617396 | Anauxetic dysplasia 2 | 617396 | C4479357 | OMIM | 0 | | 160 | 30129 | 602486 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | POP1 CL E G H | 10940 | 617396 | Anauxetic dysplasia 2 | 617396 | C4479357 | OMIM | 0 | | 95 | 30129 | 602486 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 0 | | 78 | 20662 | 608744 |
HP:0001792 | HP:0001804 | Hypoplastic fingernail | 1 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 0 | | 73 | 20662 | 608744 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 0 | | 78 | 20662 | 608744 |
HP:0001792 | HP:0001800 | Hypoplastic toenails | 1 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 0 | | 73 | 20662 | 608744 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 291 | 430 | 603741 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 291 | 430 | 603741 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 285 | 430 | 603741 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 285 | 430 | 603741 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 291 | 430 | 603741 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 285 | 430 | 603741 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 209 | 13743 | 607206 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 209 | 13743 | 607206 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 202 | 13743 | 607206 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 202 | 13743 | 607206 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 209 | 13743 | 607206 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 0 | | 202 | 13743 | 607206 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | C15orf41 CL E G H | 84529 | 615631 | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | 615631 | C3810185 | OMIM | 0 | | | 26929 | 615626 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | C15orf41 CL E G H | 84529 | 615631 | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | 615631 | C3810185 | OMIM | 0 | | | 26929 | 615626 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | C15orf41 CL E G H | 84529 | 615631 | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | 615631 | C3810185 | OMIM | 0 | | | 26929 | 615626 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 0 | | 196 | 10664 | 617170 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 0 | | 196 | 10664 | 617170 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 0 | | 135 | 10664 | 617170 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 0 | | 135 | 10664 | 617170 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 0 | | 196 | 10664 | 617170 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 0 | | 135 | 10664 | 617170 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | POP1 CL E G H | 10940 | 617396 | Anauxetic dysplasia 2 | 617396 | C4479357 | OMIM | 0 | | 160 | 30129 | 602486 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | POP1 CL E G H | 10940 | 617396 | Anauxetic dysplasia 2 | 617396 | C4479357 | OMIM | 0 | | 95 | 30129 | 602486 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | POP1 CL E G H | 10940 | 617396 | Anauxetic dysplasia 2 | 617396 | C4479357 | OMIM | 0 | | 160 | 30129 | 602486 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | POP1 CL E G H | 10940 | 617396 | Anauxetic dysplasia 2 | 617396 | C4479357 | OMIM | 0 | | 160 | 30129 | 602486 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | POP1 CL E G H | 10940 | 617396 | Anauxetic dysplasia 2 | 617396 | C4479357 | OMIM | 0 | | 95 | 30129 | 602486 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | POP1 CL E G H | 10940 | 617396 | Anauxetic dysplasia 2 | 617396 | C4479357 | OMIM | 0 | | 95 | 30129 | 602486 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 0 | | 78 | 20662 | 608744 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 0 | | 78 | 20662 | 608744 |
HP:0001792 | HP:0012553 | Hypoplastic thumbnail | 2 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 0 | | 73 | 20662 | 608744 |
HP:0001792 | HP:0011937 | Hypoplastic fifth toenail | 2 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 0 | | 73 | 20662 | 608744 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 0 | | 78 | 20662 | 608744 |
HP:0001792 | HP:0008398 | Hypoplastic fifth fingernail | 2 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 0 | | 73 | 20662 | 608744 |