Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:79134 | DEND syndrome | | | | 245 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ABL1 CL E G H | 25 | 76 | OMIM:617602 | Congenital heart defects and skeletal malformations syndrome | . | | | 51 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | | | | 49 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ACVR1 CL E G H | 90 | 171 | ORPHA:337 | Fibrodysplasia ossificans progressiva | | | | 49 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | AFF2 CL E G H | 2334 | 3776 | ORPHA:100973 | FRAXE intellectual disability | | | | 59 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | AGO2 CL E G H | 27161 | 3263 | OMIM:619149 | LESSEL-KREIENKAMP SYNDROME; LESKRES | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | HP:0040282 - Frequent | | | 9 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619467 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:251056 | 6q25 microdeletion syndrome | | | | 219 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ATP2B1 CL E G H | 490 | 814 | OMIM:619910 | | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ATR CL E G H | 545 | 882 | ORPHA:808 | Seckel syndrome | | | | 168 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | | | | 168 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ATRIP CL E G H | 84126 | 33499 | ORPHA:808 | Seckel syndrome | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | | | | 169 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | | | | 61 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:2725 | Eye defects-arachnodactyly-cardiopathy syndrome | | | | 38 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | | | | 101 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | | | | 101 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | 5 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:157801 | Mesoaxial synostotic syndactyly with phalangeal reduction | | | | 4 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BHLHA9 CL E G H | 727857 | 35126 | OMIM:609432 | Syndactyly, mesoaxial synostotic, with phalangeal reduction | | | | 4 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | | | | 314 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BMP2 CL E G H | 650 | 1069 | ORPHA:93396 | Brachydactyly type A2 | | | | 13 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:112600 | Brachydactyly, type A2 | | | | 13 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93388 | Brachydactyly type A1 | | | | 90 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93396 | Brachydactyly type A2 | | | | 90 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | | | | 90 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:112600 | Brachydactyly, type A2 | | | | 90 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BPTF CL E G H | 2186 | 3581 | OMIM:617755 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | | | | 20 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | | | | 5769 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | | | | 7642 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | | | | 1086 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 5 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 76 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | | | | 13 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CANT1 CL E G H | 124583 | 19721 | ORPHA:1425 | Desbuquois syndrome | | | | 85 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | | | | 317 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CCDC32 CL E G H | 90416 | 28295 | OMIM:619123 | CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | | | | 5 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CCDC8 CL E G H | 83987 | 25367 | OMIM:614205 | THREE M SYNDROME 3; 3M3 | | | | 5 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | | | | 7 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | | | | 7 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 9 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 31 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:619736 | TEEBI HYPERTELORISM SYNDROME 2; TBHS2 | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 114 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 50 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CENPE CL E G H | 1062 | 1856 | ORPHA:808 | Seckel syndrome | | | | 20 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CENPJ CL E G H | 55835 | 17272 | ORPHA:808 | Seckel syndrome | | | | 161 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CEP152 CL E G H | 22995 | 29298 | ORPHA:808 | Seckel syndrome | | | | 146 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CEP152 CL E G H | 22995 | 29298 | OMIM:613823 | Seckel syndrome 5 | | | | 146 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 17 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CHRNA7 CL E G H | 1139 | 1960 | ORPHA:199318 | 15q13.3 microdeletion syndrome | | | | 52 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CHRNA7 CL E G H | 1139 | 1960 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | 52 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:3303 | Tetralogy of Fallot | | | | 5 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CKAP2L CL E G H | 150468 | 26877 | OMIM:272440 | Filippi syndrome | . | | | 7 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | | | | 7 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CNOT2 CL E G H | 4848 | 7878 | OMIM:618608 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CNOT3 CL E G H | 4849 | 7879 | OMIM:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040283 - Occasional | | | 79 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | | | | 215 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | | | | 215 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | ORPHA:1425 | Desbuquois syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | OMIM:618870 | SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | | | | 20 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | | | | 38 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | | | | 127 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | | | | 127 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | | | | 33 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | DHPS CL E G H | 1725 | 2869 | OMIM:618480 | Neurodevelopmental disorder with seizures and speech and walking impairment | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | DLX3 CL E G H | 1747 | 2916 | ORPHA:3352 | Tricho-dento-osseous syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:617604 | Microcephaly, short stature, and limb abnormalities | | | | 9 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | | | | 38 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | DSP CL E G H | 1832 | 3052 | OMIM:609638 | EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA | | | | 747 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:158687 | Lethal acantholytic erosive disorder | | | | 747 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 14 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 5 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | | | | 27 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | | | | 27 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | | | | 4 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | EMG1 CL E G H | 10436 | 16912 | OMIM:211180 | Bowen-Conradi syndrome | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | EMG1 CL E G H | 10436 | 16912 | ORPHA:1270 | Bowen-Conradi syndrome | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | EPB41L1 CL E G H | 2036 | 3378 | OMIM:614257 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11 | | | | 29 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | | | | 158 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:952 | Acrofacial dysostosis, Weyers type | | | | 209 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | EVC CL E G H | 2121 | 3497 | OMIM:193530 | Weyers acrofacial dysostosis | | | | 209 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:952 | Acrofacial dysostosis, Weyers type | | | | 137 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:193530 | Weyers acrofacial dysostosis | | | | 137 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | EXT2 CL E G H | 2132 | 3513 | OMIM:616682 | Seizures, scoliosis, and macrocephaly/microcephaly syndrome | | | | 102 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | | | | 340 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | | | | 58 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | | | | 410 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | | | | 147 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | | | | 87 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | | | | 157 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | | | | 53 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | | | | 107 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FGF16 CL E G H | 8823 | 3672 | OMIM:309630 | Metacarpal 4-5 fusion | | | | 3 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 145 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | | | | 233 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FLT4 CL E G H | 2324 | 3767 | ORPHA:3303 | Tetralogy of Fallot | | | | 90 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GATA4 CL E G H | 2626 | 4173 | OMIM:187500 | Tetralogy of Fallot | | | | 87 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:3303 | Tetralogy of Fallot | | | | 87 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GATA5 CL E G H | 140628 | 15802 | ORPHA:3303 | Tetralogy of Fallot | | | | 10 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:3303 | Tetralogy of Fallot | | | | 37 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:187500 | Tetralogy of Fallot | | | | 37 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GDF1 CL E G H | 2657 | 4214 | ORPHA:3303 | Tetralogy of Fallot | | | | 28 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93388 | Brachydactyly type A1 | | | | 52 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93396 | Brachydactyly type A2 | | | | 52 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | | | | 52 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:112600 | Brachydactyly, type A2 | | | | 52 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:3250 | Proximal symphalangism | HP:0040282 - Frequent | | | 52 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:615298 | SYMPHALANGISM, PROXIMAL, 1B; SYM1B | | | | 52 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | | | | 68 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GJA5 CL E G H | 2702 | 4279 | ORPHA:3303 | Tetralogy of Fallot | | | | 39 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 3 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | | | | 4 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 | | | | 4 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | H3-3B CL E G H | 3021 | 4765 | OMIM:619721 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2 | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | | | | 33 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | | | | 37 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | HIC1 CL E G H | 3090 | 4909 | ORPHA:531 | Miller-Dieker syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:94063 | 12q14 microdeletion syndrome | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | HOXA11 CL E G H | 3207 | 5101 | ORPHA:71289 | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | | | | 3 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | HOXA11 CL E G H | 3207 | 5101 | OMIM:605432 | Radioulnar synostosis with amegakaryocytic thrombocytopenia | | | | 3 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | | | | 11 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | | | | 11 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93406 | Syndactyly type 5 | | | | 25 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | | | | 25 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 11 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 4 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | | | | 91 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | IGF1 CL E G H | 3479 | 5464 | OMIM:608747 | Insulin-Like growth factor I deficiency | | | | 91 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:616489 | Growth restriction, severe, with distinctive facies | . | | | 9 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | | | | 9 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | | | | 9 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 9 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 | | | | 9 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | IHH CL E G H | 3549 | 5956 | ORPHA:93388 | Brachydactyly type A1 | | | | 44 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | | | | 119 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:187500 | Tetralogy of Fallot | | | | 257 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | JAG1 CL E G H | 182 | 6188 | ORPHA:3303 | Tetralogy of Fallot | | | | 257 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | JUP CL E G H | 3728 | 6207 | ORPHA:158687 | Lethal acantholytic erosive disorder | | | | 222 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type | | | | 141 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KAT8 CL E G H | 84148 | 17933 | OMIM:618974 | LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79134 | DEND syndrome | | | | 127 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | | | | 193 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | | | | 3 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | | | | 9 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KDR CL E G H | 3791 | 6307 | ORPHA:3303 | Tetralogy of Fallot | | | | 40 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 4 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 167 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KLF13 CL E G H | 51621 | 13672 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KMT2B CL E G H | 9757 | 15840 | ORPHA:589618 | Dystonia 28 | | | | 11 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | | | | 13 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | | | | 13 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | | | | 196 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | L1CAM CL E G H | 3897 | 6470 | ORPHA:2466 | MASA syndrome | | | | 134 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:94063 | 12q14 microdeletion syndrome | | | | 68 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | | | | 88 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:99812 | LIG4 syndrome | | | | 88 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:619180 | MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27 | | | | 11 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | | | | 43 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MACROH2A1 CL E G H | 9555 | 4740 | ORPHA:1275 | Brachydactyly-elbow wrist dysplasia syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | | | | 21 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | | | | 93 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | . | | | 11 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | | | | 21 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | | | | 252 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040282 - Frequent | | | 3 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MECOM CL E G H | 2122 | 3498 | ORPHA:71289 | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | | | | 4 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | | | | 228 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | | | | 132 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MIA3 CL E G H | 375056 | 24008 | OMIM:619269 | ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2 | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | | | | 35 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | | | | 23 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NARS2 CL E G H | 79731 | 26274 | ORPHA:79134 | DEND syndrome | | | | 34 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040282 - Frequent | | | 101 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | | | | 55 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:187500 | Tetralogy of Fallot | | | | 90 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:3303 | Tetralogy of Fallot | | | | 90 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3303 | Tetralogy of Fallot | | | | 3 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NOG CL E G H | 9241 | 7866 | ORPHA:3250 | Proximal symphalangism | HP:0040282 - Frequent | | | 22 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NPR2 CL E G H | 4882 | 7944 | OMIM:615923 | Epiphyseal chondrodysplasia, Miura type | . | | | 53 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | | | | 102 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | | | | 84 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NUP37 CL E G H | 79023 | 29929 | OMIM:618179 | Microcephaly 24, primary, autosomal recessive | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:808 | Seckel syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | | | | 143 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | | | | 201 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 201 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 53 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 21 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | | | | 39 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | | | | 24 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:217385 | 17p13.3 microduplication syndrome | | | | 231 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:531 | Miller-Dieker syndrome | | | | 231 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PAICS CL E G H | 10606 | 8587 | OMIM:619859 | | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | | | | 1349 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | | | | 531 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:808 | Seckel syndrome | | | | 531 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PHF21A CL E G H | 51317 | 24156 | OMIM:618725 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:376 | Gordon syndrome | | | | 77 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PIGH CL E G H | 5283 | 8964 | OMIM:618010 | Glycosylphosphatidylinositol biosynthesis defect 17 | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PITX1 CL E G H | 5307 | 9004 | ORPHA:1275 | Brachydactyly-elbow wrist dysplasia syndrome | | | | 8 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PKDCC CL E G H | 91461 | 25123 | OMIM:618821 | RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 3 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PLK4 CL E G H | 10733 | 11397 | ORPHA:808 | Seckel syndrome | | | | 11 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | | | | 103 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | POLA1 CL E G H | 5422 | 9173 | ORPHA:163976 | X-linked intellectual disability, Van Esch type | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | | | | 13 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | | | | 58 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | | | | 291 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | | | | 85 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | | | | 9 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | | | | 391 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | | | | 212 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | | | | 150 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | | | | 3 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | | | | 365 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RBBP8 CL E G H | 5932 | 9891 | ORPHA:808 | Seckel syndrome | | | | 68 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:606744 | Seckel syndrome 2 | | | | 68 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | | | | 3 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | | | | 39 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RNF216 CL E G H | 54476 | 21698 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | | | | 10 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:226960 | EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS | | | | 15 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | | | | 15 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | | | | 10 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | | | | 90 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | | | | 34 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:576283 | SATB2-associated syndrome due to a pathogenic variant | | | | 34 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | | | | 134 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | | | | 53 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | | | | 66 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SIAH1 CL E G H | 6477 | 10857 | OMIM:619314 | BURATTI-HAREL SYNDROME; BURHAS | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SIK3 CL E G H | 23387 | 29165 | OMIM:618162 | Spondyloepimetaphyseal dysplasia, Krakow type | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | | | | 178 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SLC9A7 CL E G H | 84679 | 17123 | OMIM:301024 | Intellectual developmental disorder, X-linked 108 | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | | | | 274 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SNRPB CL E G H | 6628 | 11153 | ORPHA:1393 | Cerebrocostomandibular syndrome | | | | 6 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SNRPB CL E G H | 6628 | 11153 | OMIM:117650 | Cerebrocostomandibular syndrome | | | | 6 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | | | | 315 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | | | | 30 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | | | | 6 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SPRED1 CL E G H | 161742 | 20249 | ORPHA:137605 | Legius syndrome | | | | 136 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | STAG1 CL E G H | 10274 | 11354 | ORPHA:502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | | | | 9 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:187500 | Tetralogy of Fallot | | | | 32 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:3303 | Tetralogy of Fallot | | | | 32 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | | | | 5 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | | | | 55 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TBX5 CL E G H | 6910 | 11604 | OMIM:142900 | Holt-Oram syndrome | | | | 123 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | | | | 1 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040281 - Very frequent | | | 241 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 31 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | | | | 12 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | | | | 104 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TFAP2B CL E G H | 7021 | 11743 | OMIM:169100 | Char syndrome | | | | 104 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TGDS CL E G H | 23483 | 20324 | ORPHA:1388 | Catel-Manzke syndrome | | | | 6 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | | | | 6 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 45 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 61 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | | | | 140 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TRAIP CL E G H | 10293 | 30764 | ORPHA:808 | Seckel syndrome | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | | | | 158 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | | | | 8 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | | | | 171 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | | | | 214 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | UBA2 CL E G H | 10054 | 30661 | OMIM:619959 | | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:238446 | 15q11q13 microduplication syndrome | | | | 278 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | | | | 2 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | | | | 546 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 95 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 136 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | WIPI2 CL E G H | 26100 | 32225 | OMIM:618453 | Intellectual developmental disorder with short stature and variable skeletal anomalies | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 98 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | | | | 125 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:99812 | LIG4 syndrome | | | | 9 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:1425 | Desbuquois syndrome | | | | 14 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | YWHAE CL E G H | 7531 | 12851 | ORPHA:217385 | 17p13.3 microduplication syndrome | | | | 14 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | YWHAE CL E G H | 7531 | 12851 | ORPHA:531 | Miller-Dieker syndrome | | | | 14 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | YY1AP1 CL E G H | 55249 | 30935 | OMIM:602531 | Grange syndrome | . | | | 5 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ZC4H2 CL E G H | 55906 | 24931 | ORPHA:3454 | Intellectual disability-developmental delay-contractures syndrome | | | | 19 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:3303 | Tetralogy of Fallot | | | | 31 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ZFPM2 CL E G H | 23414 | 16700 | OMIM:187500 | Tetralogy of Fallot | | | | 31 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |
HP:0040019 | HP:0040019 | Finger clinodactyly | 0 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0040019 | HP:0040025 | Clinodactyly of the 4th finger | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:79134 | DEND syndrome | HP:0040283 - Occasional | | | 245 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | . | | | 49 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ACVR1 CL E G H | 90 | 171 | ORPHA:337 | Fibrodysplasia ossificans progressiva | HP:0040282 - Frequent | | | 49 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | AFF2 CL E G H | 2334 | 3776 | ORPHA:100973 | FRAXE intellectual disability | HP:0040283 - Occasional | | | 59 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | AGO2 CL E G H | 27161 | 3263 | OMIM:619149 | LESSEL-KREIENKAMP SYNDROME; LESKRES | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | AP1G1 CL E G H | 164 | 555 | OMIM:619467 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ARID1B CL E G H | 57492 | 18040 | ORPHA:251056 | 6q25 microdeletion syndrome | HP:0040283 - Occasional | | | 219 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ATP2B1 CL E G H | 490 | 814 | OMIM:619910 | | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ATR CL E G H | 545 | 882 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 168 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | . | | | 168 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ATRIP CL E G H | 84126 | 33499 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | | | | 61 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:2725 | Eye defects-arachnodactyly-cardiopathy syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 101 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:157801 | Mesoaxial synostotic syndactyly with phalangeal reduction | HP:0040281 - Very frequent | | | 4 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BHLHA9 CL E G H | 727857 | 35126 | OMIM:609432 | Syndactyly, mesoaxial synostotic, with phalangeal reduction | . | | | 4 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | . | | | 314 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BMP2 CL E G H | 650 | 1069 | ORPHA:93396 | Brachydactyly type A2 | HP:0040282 - Frequent | | | 13 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:112600 | Brachydactyly, type A2 | . | | | 13 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93388 | Brachydactyly type A1 | HP:0040283 - Occasional | | | 90 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93396 | Brachydactyly type A2 | HP:0040282 - Frequent | | | 90 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | HP:0040283 - Occasional | | | 90 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:112600 | Brachydactyly, type A2 | . | | | 90 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BPTF CL E G H | 2186 | 3581 | OMIM:617755 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL | | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | . | | | 20 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CANT1 CL E G H | 124583 | 19721 | ORPHA:1425 | Desbuquois syndrome | HP:0040282 - Frequent | | | 85 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 317 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CCDC32 CL E G H | 90416 | 28295 | OMIM:619123 | CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS | | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CCDC8 CL E G H | 83987 | 25367 | OMIM:614205 | THREE M SYNDROME 3; 3M3 | | | | 5 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | . | | | 7 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CDH11 CL E G H | 1009 | 1750 | OMIM:619736 | TEEBI HYPERTELORISM SYNDROME 2; TBHS2 | | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 114 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CENPE CL E G H | 1062 | 1856 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CENPJ CL E G H | 55835 | 17272 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 161 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CEP152 CL E G H | 22995 | 29298 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 146 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CEP152 CL E G H | 22995 | 29298 | OMIM:613823 | Seckel syndrome 5 | . | | | 146 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040283 - Occasional | | | 515 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CHRNA7 CL E G H | 1139 | 1960 | ORPHA:199318 | 15q13.3 microdeletion syndrome | HP:0040283 - Occasional | | | 52 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CHRNA7 CL E G H | 1139 | 1960 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | 52 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0040019 | HP:0040022 | Clinodactyly of the 2nd finger | 1 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CITED2 CL E G H | 10370 | 1987 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 5 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CNOT2 CL E G H | 4848 | 7878 | OMIM:618608 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS | | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CNOT3 CL E G H | 4849 | 7879 | OMIM:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0040019 | HP:0040025 | Clinodactyly of the 4th finger | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | | | | 215 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | | | | 215 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CSGALNACT1 CL E G H | 55790 | 24290 | ORPHA:1425 | Desbuquois syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0040022 | Clinodactyly of the 2nd finger | 1 | CSGALNACT1 CL E G H | 55790 | 24290 | OMIM:618870 | SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040282 - Frequent | | | 20 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | HP:0040281 - Very frequent | | | 38 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | . | | | 127 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | DHPS CL E G H | 1725 | 2869 | OMIM:618480 | Neurodevelopmental disorder with seizures and speech and walking impairment | . | | | | | |
HP:0040019 | HP:0040024 | Clinodactyly of the 3rd finger | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | DONSON CL E G H | 29980 | 2993 | OMIM:617604 | Microcephaly, short stature, and limb abnormalities | . | | | 9 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | . | | | 38 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | DSP CL E G H | 1832 | 3052 | OMIM:609638 | EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA | | | | 747 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040283 - Occasional | | | 747 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | HP:0040282 - Frequent | | | 27 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | . | | | 4 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | EMG1 CL E G H | 10436 | 16912 | ORPHA:1270 | Bowen-Conradi syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | EMG1 CL E G H | 10436 | 16912 | OMIM:211180 | Bowen-Conradi syndrome | . | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040281 - Very frequent | | | 92 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | EVC CL E G H | 2121 | 3497 | ORPHA:952 | Acrofacial dysostosis, Weyers type | HP:0040282 - Frequent | | | 209 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | EVC CL E G H | 2121 | 3497 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 209 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | EVC2 CL E G H | 132884 | 19747 | ORPHA:952 | Acrofacial dysostosis, Weyers type | HP:0040282 - Frequent | | | 137 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | EVC2 CL E G H | 132884 | 19747 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 137 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | EXT2 CL E G H | 2132 | 3513 | OMIM:616682 | Seizures, scoliosis, and macrocephaly/microcephaly syndrome | . | | | 102 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | HP:0040282 - Frequent | | | 62 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FGF16 CL E G H | 8823 | 3672 | OMIM:309630 | Metacarpal 4-5 fusion | | | | 3 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 175 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040281 - Very frequent | | | 145 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FLT4 CL E G H | 2324 | 3767 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 90 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GATA4 CL E G H | 2626 | 4173 | OMIM:187500 | Tetralogy of Fallot | . | | | 87 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 87 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GATA5 CL E G H | 140628 | 15802 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 10 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GATA6 CL E G H | 2627 | 4174 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 37 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GATA6 CL E G H | 2627 | 4174 | OMIM:187500 | Tetralogy of Fallot | . | | | 37 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GDF1 CL E G H | 2657 | 4214 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 28 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93388 | Brachydactyly type A1 | HP:0040283 - Occasional | | | 52 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93396 | Brachydactyly type A2 | HP:0040282 - Frequent | | | 52 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | HP:0040283 - Occasional | | | 52 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:112600 | Brachydactyly, type A2 | . | | | 52 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | HP:0040282 - Frequent | | | 52 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:3250 | Proximal symphalangism | HP:0040283 - Occasional | | | 52 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:615298 | SYMPHALANGISM, PROXIMAL, 1B; SYM1B | | | | 52 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040281 - Very frequent | | | 68 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | | | | 68 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GJA5 CL E G H | 2702 | 4279 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 39 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | 73 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040283 - Occasional | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | H19 CL E G H | 283120 | 4713 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040282 - Frequent | | | 4 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | H19 CL E G H | 283120 | 4713 | ORPHA:231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 | HP:0040282 - Frequent | | | 4 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | . | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | H3-3B CL E G H | 3021 | 4765 | OMIM:619721 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2 | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | | | | 37 | | |
HP:0040019 | HP:0040023 | Clinodactyly of the thumb | 1 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | HIC1 CL E G H | 3090 | 4909 | ORPHA:531 | Miller-Dieker syndrome | HP:0040283 - Occasional | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0040019 | HP:0040022 | Clinodactyly of the 2nd finger | 1 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | HOXA11 CL E G H | 3207 | 5101 | ORPHA:71289 | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | HOXA11 CL E G H | 3207 | 5101 | OMIM:605432 | Radioulnar synostosis with amegakaryocytic thrombocytopenia | . | | | 3 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | . | | | 11 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93406 | Syndactyly type 5 | HP:0040283 - Occasional | | | 25 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | . | | | 25 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 93 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0040019 | HP:0040022 | Clinodactyly of the 2nd finger | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 4 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | IGF1 CL E G H | 3479 | 5464 | OMIM:608747 | Insulin-Like growth factor I deficiency | | | | 91 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | . | | | 9 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040282 - Frequent | | | 9 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 9 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 | HP:0040282 - Frequent | | | 9 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | IHH CL E G H | 3549 | 5956 | ORPHA:93388 | Brachydactyly type A1 | HP:0040283 - Occasional | | | 44 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | . | | | 44 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:187500 | Tetralogy of Fallot | . | | | 257 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | JAG1 CL E G H | 182 | 6188 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 257 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | JUP CL E G H | 3728 | 6207 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040283 - Occasional | | | 222 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KAT6B CL E G H | 23522 | 17582 | ORPHA:3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type | HP:0040282 - Frequent | | | 141 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KAT8 CL E G H | 84148 | 17933 | OMIM:618974 | LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0040019 | HP:0040025 | Clinodactyly of the 4th finger | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79134 | DEND syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | . | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | . | | | 9 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KDR CL E G H | 3791 | 6307 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 40 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | . | | | 167 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KLF13 CL E G H | 51621 | 13672 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | . | | | 91 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KMT2B CL E G H | 9757 | 15840 | ORPHA:589618 | Dystonia 28 | | | | 11 | | |
HP:0040019 | HP:0040025 | Clinodactyly of the 4th finger | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0040019 | HP:0040024 | Clinodactyly of the 3rd finger | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0040019 | HP:0040022 | Clinodactyly of the 2nd finger | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | . | | | 13 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | L1CAM CL E G H | 3897 | 6470 | ORPHA:2466 | MASA syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:99812 | LIG4 syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | LMNB2 CL E G H | 84823 | 6638 | OMIM:619180 | MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27 | | | | 11 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MACROH2A1 CL E G H | 9555 | 4740 | ORPHA:1275 | Brachydactyly-elbow wrist dysplasia syndrome | HP:0040281 - Very frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040284 - Very rare | | | 93 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | . | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | . | | | 21 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | HP:0040282 - Frequent | | | 252 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MECOM CL E G H | 2122 | 3498 | ORPHA:71289 | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0040019 | HP:0040022 | Clinodactyly of the 2nd finger | 1 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | HP:0040283 - Occasional | | | 228 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | | | | 132 | | |
HP:0040019 | HP:0040024 | Clinodactyly of the 3rd finger | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MIA3 CL E G H | 375056 | 24008 | OMIM:619269 | ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2 | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | HP:0040282 - Frequent | | | 35 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 23 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0040019 | HP:0040025 | Clinodactyly of the 4th finger | 1 | NARS2 CL E G H | 79731 | 26274 | ORPHA:79134 | DEND syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | HP:0040282 - Frequent | | | 55 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:187500 | Tetralogy of Fallot | . | | | 90 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 90 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 3 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NOG CL E G H | 9241 | 7866 | ORPHA:3250 | Proximal symphalangism | HP:0040283 - Occasional | | | 22 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 84 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NUP37 CL E G H | 79023 | 29929 | OMIM:618179 | Microcephaly 24, primary, autosomal recessive | . | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NUP85 CL E G H | 79902 | 8734 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040282 - Frequent | | | 201 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 53 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | . | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:217385 | 17p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 231 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:531 | Miller-Dieker syndrome | HP:0040283 - Occasional | | | 231 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PAICS CL E G H | 10606 | 8587 | OMIM:619859 | | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | HP:0040281 - Very frequent | | | 531 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PCNT CL E G H | 5116 | 16068 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 531 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PHF21A CL E G H | 51317 | 24156 | OMIM:618725 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS | | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:376 | Gordon syndrome | HP:0040283 - Occasional | | | 77 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PIGH CL E G H | 5283 | 8964 | OMIM:618010 | Glycosylphosphatidylinositol biosynthesis defect 17 | | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0040019 | HP:0040025 | Clinodactyly of the 4th finger | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0040019 | HP:0040022 | Clinodactyly of the 2nd finger | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0040019 | HP:0040024 | Clinodactyly of the 3rd finger | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PITX1 CL E G H | 5307 | 9004 | ORPHA:1275 | Brachydactyly-elbow wrist dysplasia syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0040019 | HP:0040024 | Clinodactyly of the 3rd finger | 1 | PKDCC CL E G H | 91461 | 25123 | OMIM:618821 | RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 3 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PLK4 CL E G H | 10733 | 11397 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040283 - Occasional | | | 103 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | POLA1 CL E G H | 5422 | 9173 | ORPHA:163976 | X-linked intellectual disability, Van Esch type | HP:0040283 - Occasional | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 148 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | . | | | 58 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 291 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 212 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | HP:0040282 - Frequent | | | 365 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RBBP8 CL E G H | 5932 | 9891 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 68 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RBBP8 CL E G H | 5932 | 9891 | OMIM:606744 | Seckel syndrome 2 | | | | 68 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RNF216 CL E G H | 54476 | 21698 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:226960 | EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS | | | | 15 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040282 - Frequent | | | 15 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040281 - Very frequent | | | 120 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0040019 | HP:0040024 | Clinodactyly of the 3rd finger | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040283 - Occasional | | | 90 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040282 - Frequent | | | 124 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:576283 | SATB2-associated syndrome due to a pathogenic variant | HP:0040283 - Occasional | | | 34 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040283 - Occasional | | | 53 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | HP:0040281 - Very frequent | | | 66 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SIAH1 CL E G H | 6477 | 10857 | OMIM:619314 | BURATTI-HAREL SYNDROME; BURHAS | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SIK3 CL E G H | 23387 | 29165 | OMIM:618162 | Spondyloepimetaphyseal dysplasia, Krakow type | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SLC9A7 CL E G H | 84679 | 17123 | OMIM:301024 | Intellectual developmental disorder, X-linked 108 | . | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040282 - Frequent | | | 15 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SNRPB CL E G H | 6628 | 11153 | OMIM:117650 | Cerebrocostomandibular syndrome | . | | | 6 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SNRPB CL E G H | 6628 | 11153 | ORPHA:1393 | Cerebrocostomandibular syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0040019 | HP:0040025 | Clinodactyly of the 4th finger | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 315 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 30 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SPRED1 CL E G H | 161742 | 20249 | ORPHA:137605 | Legius syndrome | | | | 136 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | . | | | 138 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | STAG1 CL E G H | 10274 | 11354 | ORPHA:502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | . | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 271 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:187500 | Tetralogy of Fallot | . | | | 32 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 32 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | . | | | 5 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | . | | | 1 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040283 - Occasional | | | 12 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TFAP2B CL E G H | 7021 | 11743 | OMIM:169100 | Char syndrome | . | | | 104 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040282 - Frequent | | | 104 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | . | | | 6 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TGDS CL E G H | 23483 | 20324 | ORPHA:1388 | Catel-Manzke syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TRAIP CL E G H | 10293 | 30764 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 158 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | HP:0040281 - Very frequent | | | 171 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | HP:0040283 - Occasional | | | 214 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040281 - Very frequent | | | 18 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 18 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | UBA2 CL E G H | 10054 | 30661 | OMIM:619959 | | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | UBE3A CL E G H | 7337 | 12496 | ORPHA:238446 | 15q11q13 microduplication syndrome | HP:0040282 - Frequent | | | 278 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | . | | | 25 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | | | | 2 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040282 - Frequent | | | 546 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 95 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 136 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | . | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | WIPI2 CL E G H | 26100 | 32225 | OMIM:618453 | Intellectual developmental disorder with short stature and variable skeletal anomalies | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:99812 | LIG4 syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:1425 | Desbuquois syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | YWHAE CL E G H | 7531 | 12851 | ORPHA:217385 | 17p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | YWHAE CL E G H | 7531 | 12851 | ORPHA:531 | Miller-Dieker syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ZC4H2 CL E G H | 55906 | 24931 | ORPHA:3454 | Intellectual disability-developmental delay-contractures syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 31 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ZFPM2 CL E G H | 23414 | 16700 | OMIM:187500 | Tetralogy of Fallot | . | | | 31 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |
HP:0040019 | HP:0004209 | Clinodactyly of the 5th finger | 1 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0040019 | HP:0005769 | Fifth finger distal phalanx clinodactyly | 2 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |