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:0003038 | HP:0003038 | Fibular hypoplasia | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | 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:0003038 | HP:0003038 | Fibular hypoplasia | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | | | | 168 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040282 - Frequent | | | 90 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | HP:0040283 - Occasional | | | 304 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | HP:0040283 - Occasional | | | 4 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | | | | 493 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040282 - Frequent | | | 52 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | | | | 52 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:200700 | Chondrodysplasia, Grebe type | . | | | 52 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:228900 | Fibular hypoplasia and complex brachydactyly | . | | | 52 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | GPC6 CL E G H | 10082 | 4454 | OMIM:258315 | Omodysplasia 1 | . | | | 99 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040281 - Very frequent | | | 18 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | MET CL E G H | 4233 | 7029 | OMIM:607278 | Osteofibrous dysplasia, susceptibility to | HP:0040283 - Occasional | | | 375 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | . | | | 58 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:79106 | Eiken syndrome | HP:0040282 - Frequent | | | 58 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:1788 | Acrofacial dysostosis, RodrÃguez type | HP:0040282 - Frequent | | | 49 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | SHOX CL E G H | 6473 | 10853 | OMIM:249700 | Langer mesomelic dysplasia | | | | 66 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | SHOX CL E G H | 6473 | 10853 | OMIM:127300 | Leri-Weill dyschondrosteosis | | | | 66 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | SLC35D1 CL E G H | 23169 | 20800 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040281 - Very frequent | | | 9 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040282 - Frequent | | | 15 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | HP:0040281 - Very frequent | | | 109 | | |
HP:0003038 | HP:0003038 | Fibular hypoplasia | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0003038 | HP:0006442 | Hypoplasia of proximal fibula | 1 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | . | | | 168 | | |
HP:0003038 | HP:0006381 | Rudimentary fibula | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0003038 | HP:0006381 | Rudimentary fibula | 1 | SHOX CL E G H | 6473 | 10853 | OMIM:249700 | Langer mesomelic dysplasia | . | | | 66 | | |