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:0001847 | HP:0001847 | Long hallux | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | FIBP CL E G H | 9158 | 3705 | OMIM:617107 | Thauvin-Robinet-Faivre syndrome | . | | | 2 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | GNAI1 CL E G H | 2770 | 4384 | OMIM:619854 | | | | | | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | . | | | 173 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | | | | 10 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | NPR2 CL E G H | 4882 | 7944 | OMIM:602875 | Acromesomelic dysplasia, Maroteaux type | . | | | 53 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | NPR2 CL E G H | 4882 | 7944 | OMIM:615923 | Epiphyseal chondrodysplasia, Miura type | . | | | 53 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | NPR3 CL E G H | 4883 | 7945 | OMIM:619543 | BOUDIN-MORTIER SYNDROME; BOMOS | | | | | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | . | | | 134 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | . | | | 11 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | . | | | 19 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | SOX5 CL E G H | 6660 | 11201 | OMIM:616803 | Lamb-Shaffer syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0001847 | HP:0001847 | Long hallux | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |