Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | | | | 6 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | | | | 68 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | | | | 3179 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | | | | 168 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | | | | 90 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93388 | Brachydactyly type A1 | | | | 90 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | | | | 5769 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | | | | 7642 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | | | | 1086 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | | | | 5 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | | | | 7 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | CHUK CL E G H | 1147 | 1974 | OMIM:613630 | Fetal encasement syndrome | . | | | 3 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:94068 | Spondyloepiphyseal dysplasia congenita | HP:0040282 - Frequent | | | 284 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040282 - Frequent | | | 284 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | | | | 284 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:1856 | Spondyloperipheral dysplasia-short ulna syndrome | | | | 284 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | | | | 127 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | DHODH CL E G H | 1723 | 2867 | ORPHA:246 | Postaxial acrofacial dysostosis | | | | 59 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | DHODH CL E G H | 1723 | 2867 | OMIM:263750 | Postaxial acrofacial dysostosis | | | | 59 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | 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:0009824 | HP:0009824 | Upper limb undergrowth | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:617604 | Microcephaly, short stature, and limb abnormalities | | | | 9 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:251230 | Microcephaly-Micromelia syndrome | | | | 9 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | | | | 304 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | | | | 4 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | | | | 158 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:2319 | Juberg-Hayward syndrome | | | | 92 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | EXOC6B CL E G H | 23233 | 17085 | OMIM:618395 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | | | | 3 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:321 | Multiple osteochondromas | | | | 96 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:321 | Multiple osteochondromas | | | | 102 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | | | | 340 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | | | | 58 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | | | | 58 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | | | | 410 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | | | | 147 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | | | | 87 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | | | | 157 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | | | | 53 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | | | | 107 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040282 - Frequent | | | 9 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | | | | 52 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93388 | Brachydactyly type A1 | | | | 52 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:200700 | Chondrodysplasia, Grebe type | | | | 52 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | . | | | 31 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | | | | 2 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | IHH CL E G H | 3549 | 5956 | ORPHA:93388 | Brachydactyly type A1 | | | | 44 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:212780 | Cenani-Lenz syndactyly syndrome | | | | 124 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | | | | 124 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | | | | 1 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | 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:0009824 | HP:0009824 | Upper limb undergrowth | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | NPR2 CL E G H | 4882 | 7944 | OMIM:602875 | Acromesomelic dysplasia, Maroteaux type | | | | 53 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | | | | 143 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | | | | 1349 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:950 | Acrodysostosis | | | | 113 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | | | | 12 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:950 | Acrodysostosis | | | | 134 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | | | | 9 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | | | | 391 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | RAD51C CL E G H | 5889 | 9820 | OMIM:613390 | Fanconi anemia, complementation group O | | | | 391 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | | | | 16 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | | | | 445 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | | | | | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | RFWD3 CL E G H | 55159 | 25539 | OMIM:617784 | Fanconi anemia, complementation group W | | | | | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | RPL26 CL E G H | 6154 | 10327 | OMIM:614900 | Diamond-Blackfan anemia 11 | | | | 3 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | | | | 86 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | | | | 86 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:2307 | IVIC syndrome | | | | 86 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | | | | 49 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | SHOX CL E G H | 6473 | 10853 | OMIM:249700 | Langer mesomelic dysplasia | | | | 66 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | | | | 66 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | SHOX CL E G H | 6473 | 10853 | OMIM:127300 | Leri-Weill dyschondrosteosis | | | | 66 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:314795 | SHOX-related short stature | | | | 66 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040282 - Frequent | | | 166 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040282 - Frequent | | | 166 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | | | | 274 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | SLX4 CL E G H | 84464 | 23845 | OMIM:613951 | Fanconi anemia, complementation group P | | | | 274 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | TBX5 CL E G H | 6910 | 11604 | OMIM:142900 | Holt-Oram syndrome | | | | 123 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | | | | 133 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | | | | 2 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | WNT7A CL E G H | 7476 | 12786 | ORPHA:2879 | Phocomelia, Schinzel type | | | | 13 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | | | | 125 | | |
HP:0009824 | HP:0009824 | Upper limb undergrowth | 0 | XRCC2 CL E G H | 7516 | 12829 | OMIM:617247 | FANCONI ANEMIA, COMPLEMENTATION GROUP U | | | | 125 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | | | | 6 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | | | | 68 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | | | | 3179 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | | | | 168 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | | | | 90 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93388 | Brachydactyly type A1 | | | | 90 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | | | | 5769 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | | | | 7642 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | | | | 1086 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | | | | 5 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | | | | 7 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | | | | 284 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:1856 | Spondyloperipheral dysplasia-short ulna syndrome | | | | 284 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | | | | 127 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | DHODH CL E G H | 1723 | 2867 | OMIM:263750 | Postaxial acrofacial dysostosis | | | | 59 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | DHODH CL E G H | 1723 | 2867 | ORPHA:246 | Postaxial acrofacial dysostosis | | | | 59 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | DONSON CL E G H | 29980 | 2993 | OMIM:617604 | Microcephaly, short stature, and limb abnormalities | | | | 9 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | DONSON CL E G H | 29980 | 2993 | OMIM:251230 | Microcephaly-Micromelia syndrome | . | | | 9 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | | | | 304 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | | | | 4 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | | | | 158 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:2319 | Juberg-Hayward syndrome | | | | 92 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | EXOC6B CL E G H | 23233 | 17085 | OMIM:618395 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | | | | 3 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | EXT1 CL E G H | 2131 | 3512 | ORPHA:321 | Multiple osteochondromas | HP:0040283 - Occasional | | | 96 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | EXT2 CL E G H | 2132 | 3513 | ORPHA:321 | Multiple osteochondromas | HP:0040283 - Occasional | | | 102 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | | | | 340 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | | | | 58 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | | | | 58 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | | | | 410 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | | | | 147 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | | | | 87 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | | | | 157 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | | | | 53 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | | | | 107 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | | | | 52 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93388 | Brachydactyly type A1 | | | | 52 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:200700 | Chondrodysplasia, Grebe type | | | | 52 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | | | | 2 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | IHH CL E G H | 3549 | 5956 | ORPHA:93388 | Brachydactyly type A1 | | | | 44 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | LRP4 CL E G H | 4038 | 6696 | OMIM:212780 | Cenani-Lenz syndactyly syndrome | | | | 124 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | | | | 124 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | | | | 1 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | NPR2 CL E G H | 4882 | 7944 | OMIM:602875 | Acromesomelic dysplasia, Maroteaux type | | | | 53 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | | | | 143 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | | | | 1349 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:950 | Acrodysostosis | | | | 113 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | | | | 12 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:950 | Acrodysostosis | | | | 134 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | | | | 9 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | | | | 391 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | RAD51C CL E G H | 5889 | 9820 | OMIM:613390 | Fanconi anemia, complementation group O | | | | 391 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | | | | 16 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | | | | 445 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | | | | | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | RFWD3 CL E G H | 55159 | 25539 | OMIM:617784 | Fanconi anemia, complementation group W | | | | | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | RPL26 CL E G H | 6154 | 10327 | OMIM:614900 | Diamond-Blackfan anemia 11 | | | | 3 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | | | | 86 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | | | | 86 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:2307 | IVIC syndrome | | | | 86 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | | | | 49 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | SHOX CL E G H | 6473 | 10853 | OMIM:249700 | Langer mesomelic dysplasia | | | | 66 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | | | | 66 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | SHOX CL E G H | 6473 | 10853 | OMIM:127300 | Leri-Weill dyschondrosteosis | | | | 66 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | SHOX CL E G H | 6473 | 10853 | ORPHA:314795 | SHOX-related short stature | HP:0040281 - Very frequent | | | 66 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | | | | 274 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | SLX4 CL E G H | 84464 | 23845 | OMIM:613951 | Fanconi anemia, complementation group P | | | | 274 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | TBX5 CL E G H | 6910 | 11604 | OMIM:142900 | Holt-Oram syndrome | | | | 123 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | | | | 133 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | | | | 2 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | WNT7A CL E G H | 7476 | 12786 | ORPHA:2879 | Phocomelia, Schinzel type | | | | 13 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | | | | 125 | | |
HP:0009824 | HP:0009821 | Forearm undergrowth | 1 | XRCC2 CL E G H | 7516 | 12829 | OMIM:617247 | FANCONI ANEMIA, COMPLEMENTATION GROUP U | | | | 125 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | | | | 6 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | . | | | 68 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040282 - Frequent | | | 3179 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040282 - Frequent | | | 3179 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | | | | 168 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | . | | | 8 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | . | | | 90 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93388 | Brachydactyly type A1 | HP:0040283 - Occasional | | | 90 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | HP:0040283 - Occasional | | | 515 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:1856 | Spondyloperipheral dysplasia-short ulna syndrome | HP:0040282 - Frequent | | | 284 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | DHODH CL E G H | 1723 | 2867 | ORPHA:246 | Postaxial acrofacial dysostosis | HP:0040281 - Very frequent | | | 59 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | DHODH CL E G H | 1723 | 2867 | OMIM:263750 | Postaxial acrofacial dysostosis | . | | | 59 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | DHODH CL E G H | 1723 | 2867 | OMIM:263750 | Postaxial acrofacial dysostosis | . | | | 59 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | DHODH CL E G H | 1723 | 2867 | ORPHA:246 | Postaxial acrofacial dysostosis | HP:0040281 - Very frequent | | | 59 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | DONSON CL E G H | 29980 | 2993 | OMIM:617604 | Microcephaly, short stature, and limb abnormalities | . | | | 9 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | HP:0040283 - Occasional | | | 304 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | . | | | 4 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:2319 | Juberg-Hayward syndrome | HP:0040282 - Frequent | | | 92 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040281 - Very frequent | | | 92 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | EXOC6B CL E G H | 23233 | 17085 | OMIM:618395 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | . | | | 3 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | HP:0040282 - Frequent | | | 58 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | . | | | 157 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | . | | | 52 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | . | | | 52 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93388 | Brachydactyly type A1 | HP:0040283 - Occasional | | | 52 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:200700 | Chondrodysplasia, Grebe type | . | | | 52 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:200700 | Chondrodysplasia, Grebe type | . | | | 52 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | | | | 2 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | IHH CL E G H | 3549 | 5956 | ORPHA:93388 | Brachydactyly type A1 | HP:0040283 - Occasional | | | 44 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | LRP4 CL E G H | 4038 | 6696 | OMIM:212780 | Cenani-Lenz syndactyly syndrome | . | | | 124 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | LRP4 CL E G H | 4038 | 6696 | OMIM:212780 | Cenani-Lenz syndactyly syndrome | . | | | 124 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040282 - Frequent | | | 124 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040282 - Frequent | | | 124 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | NPR2 CL E G H | 4882 | 7944 | OMIM:602875 | Acromesomelic dysplasia, Maroteaux type | . | | | 53 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | HP:0040282 - Frequent | | | 143 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | PDE4D CL E G H | 5144 | 8783 | ORPHA:950 | Acrodysostosis | HP:0040282 - Frequent | | | 113 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | PDE4D CL E G H | 5144 | 8783 | ORPHA:950 | Acrodysostosis | HP:0040282 - Frequent | | | 113 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:950 | Acrodysostosis | HP:0040282 - Frequent | | | 134 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:950 | Acrodysostosis | HP:0040282 - Frequent | | | 134 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | RAD51C CL E G H | 5889 | 9820 | OMIM:613390 | Fanconi anemia, complementation group O | . | | | 391 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | . | | | 16 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0009824 | HP:0005773 | Short forearm | 2 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | . | | | 445 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | . | | | 445 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | RFWD3 CL E G H | 55159 | 25539 | OMIM:617784 | Fanconi anemia, complementation group W | | | | | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | RPL26 CL E G H | 6154 | 10327 | OMIM:614900 | Diamond-Blackfan anemia 11 | . | | | 3 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | RPL26 CL E G H | 6154 | 10327 | OMIM:614900 | Diamond-Blackfan anemia 11 | . | | | 3 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | . | | | 86 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | . | | | 86 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | . | | | 86 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | SALL4 CL E G H | 57167 | 15924 | ORPHA:2307 | IVIC syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | | | | 86 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | SHOX CL E G H | 6473 | 10853 | OMIM:249700 | Langer mesomelic dysplasia | . | | | 66 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | SHOX CL E G H | 6473 | 10853 | OMIM:249700 | Langer mesomelic dysplasia | . | | | 66 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | HP:0040281 - Very frequent | | | 66 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | HP:0040281 - Very frequent | | | 66 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | SHOX CL E G H | 6473 | 10853 | OMIM:127300 | Leri-Weill dyschondrosteosis | | | | 66 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | SHOX CL E G H | 6473 | 10853 | OMIM:127300 | Leri-Weill dyschondrosteosis | | | | 66 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | SLX4 CL E G H | 84464 | 23845 | OMIM:613951 | Fanconi anemia, complementation group P | HP:0040283 - Occasional | | | 274 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | TBX5 CL E G H | 6910 | 11604 | OMIM:142900 | Holt-Oram syndrome | | | | 123 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | TBX5 CL E G H | 6910 | 11604 | OMIM:142900 | Holt-Oram syndrome | | | | 123 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | . | | | 133 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | WNT7A CL E G H | 7476 | 12786 | ORPHA:2879 | Phocomelia, Schinzel type | HP:0040282 - Frequent | | | 13 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0009824 | HP:0003022 | Hypoplasia of the ulna | 2 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0009824 | HP:0002984 | Hypoplasia of the radius | 2 | XRCC2 CL E G H | 7516 | 12829 | OMIM:617247 | FANCONI ANEMIA, COMPLEMENTATION GROUP U | | | | 125 | | |
HP:0009824 | HP:0005036 | Unilateral ulnar hypoplasia | 3 | CL E G H | | | | | | | | | | |
HP:0009824 | HP:0006434 | Hypoplasia of proximal radius | 3 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0009824 | HP:0006434 | Hypoplasia of proximal radius | 3 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | . | | | 168 | | |
HP:0009824 | HP:0006434 | Hypoplasia of proximal radius | 3 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0009824 | HP:0005648 | Bilateral ulnar hypoplasia | 3 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0009824 | HP:0005033 | Distal ulnar hypoplasia | 3 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | . | | | 11 | | |