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:0008369 | HP:0008369 | Abnormal tarsal ossification | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0008369 | HP:0008369 | Abnormal tarsal ossification | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | | | | 284 | | |
HP:0008369 | HP:0008369 | Abnormal tarsal ossification | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | | | | 51 | | |
HP:0008369 | HP:0008369 | Abnormal tarsal ossification | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | | | | 65 | | |
HP:0008369 | HP:0008369 | Abnormal tarsal ossification | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | | | | 11 | | |
HP:0008369 | HP:0008369 | Abnormal tarsal ossification | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:3144 | Schneckenbecken dysplasia | | | | 18 | | |
HP:0008369 | HP:0008369 | Abnormal tarsal ossification | 0 | MATN3 CL E G H | 4148 | 6909 | OMIM:607078 | Epiphyseal dysplasia, multiple, 5 | | | | 32 | | |
HP:0008369 | HP:0008369 | Abnormal tarsal ossification | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:215045 | Chondrodysplasia, Blomstrand type | | | | 58 | | |
HP:0008369 | HP:0008369 | Abnormal tarsal ossification | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0008369 | HP:0008369 | Abnormal tarsal ossification | 0 | SLC35D1 CL E G H | 23169 | 20800 | ORPHA:3144 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0008369 | HP:0008369 | Abnormal tarsal ossification | 0 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0008369 | HP:0011836 | Delayed talus ossification | 1 | CL E G H | | | | | | | | | | |
HP:0008369 | HP:0008108 | Advanced tarsal ossification | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0008369 | HP:0008103 | Delayed tarsal ossification | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | | | | 284 | | |
HP:0008369 | HP:0008131 | Tarsal stippling | 1 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | . | | | 51 | | |
HP:0008369 | HP:0008134 | Irregular tarsal ossification | 1 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0008369 | HP:0008103 | Delayed tarsal ossification | 1 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | . | | | 11 | | |
HP:0008369 | HP:0008108 | Advanced tarsal ossification | 1 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040283 - Occasional | | | 18 | | |
HP:0008369 | HP:0008103 | Delayed tarsal ossification | 1 | MATN3 CL E G H | 4148 | 6909 | OMIM:607078 | Epiphyseal dysplasia, multiple, 5 | . | | | 32 | | |
HP:0008369 | HP:0008108 | Advanced tarsal ossification | 1 | PTH1R CL E G H | 5745 | 9608 | OMIM:215045 | Chondrodysplasia, Blomstrand type | . | | | 58 | | |
HP:0008369 | HP:0008103 | Delayed tarsal ossification | 1 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0008369 | HP:0008108 | Advanced tarsal ossification | 1 | SLC35D1 CL E G H | 23169 | 20800 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040283 - Occasional | | | 9 | | |
HP:0008369 | HP:0008108 | Advanced tarsal ossification | 1 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | . | | | 9 | | |
HP:0008369 | HP:0008142 | Delayed calcaneal ossification | 2 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | . | | | 284 | | |