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:0008368 | HP:0008368 | Tarsal synostosis | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040283 - Occasional | | | 192 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | . | | | 90 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040281 - Very frequent | | | 90 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2639 | Fibular aplasia-complex brachydactyly syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | CHSY1 CL E G H | 22856 | 17198 | OMIM:605282 | Temtamy preaxial brachydactyly syndrome | . | | | 16 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | FBLN1 CL E G H | 2192 | 3600 | OMIM:608180 | Synpolydactyly 2 | . | | | 12 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:123150 | Jackson-Weiss syndrome | | | | 172 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123150 | Jackson-Weiss syndrome | | | | 175 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:53271 | Muenke syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | | | | 493 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040283 - Occasional | | | 493 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040281 - Very frequent | | | 52 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:968 | Acromesomelic dysplasia, Hunter-Thompson type | HP:0040281 - Very frequent | | | 52 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2639 | Fibular aplasia-complex brachydactyly syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:610017 | Multiple synostoses syndrome 2 | | | | 52 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:3250 | Proximal symphalangism | HP:0040281 - Very frequent | | | 52 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:617898 | Multiple synostoses syndrome 4 | . | | | 64 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:93322 | Tibial hemimelia | HP:0040283 - Occasional | | | 270 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:2378 | Laurin-Sandrow syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | . | | | 11 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:178110 | Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A | . | | | 166 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:618469 | CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B | | | | 166 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | . | | | 22 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | NOG CL E G H | 9241 | 7866 | ORPHA:3250 | Proximal symphalangism | HP:0040281 - Very frequent | | | 22 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | NOG CL E G H | 9241 | 7866 | OMIM:185800 | Symphalangism, proximal, 1A | | | | 22 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | NOG CL E G H | 9241 | 7866 | ORPHA:1412 | Tarsal-carpal coalition syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186570 | Tarsal-Carpal coalition syndrome | | | | 22 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | . | | | 76 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040284 - Very rare | | | 76 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040282 - Frequent | | | 15 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | TBX4 CL E G H | 9496 | 11603 | OMIM:147891 | Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension | . | | | 55 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0008368 | HP:0008368 | Tarsal synostosis | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0008368 | HP:0100329 | Tarsometatarsal synostosis | 1 | CL E G H | | | | | | | | | | |
HP:0008368 | HP:0005802 | Coalescence of tarsal bones | 1 | CL E G H | | | | | | | | | | |
HP:0008368 | HP:0008122 | Calcaneonavicular fusion | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:123150 | Jackson-Weiss syndrome | . | | | 172 | | |
HP:0008368 | HP:0008122 | Calcaneonavicular fusion | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123150 | Jackson-Weiss syndrome | . | | | 175 | | |
HP:0008368 | HP:0008097 | Partial fusion of tarsals | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | . | | | 493 | | |
HP:0008368 | HP:0005682 | Talocalcaneal synostosis | 1 | TBX4 CL E G H | 9496 | 11603 | OMIM:147891 | Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension | . | | | 55 | | |