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:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | | | | 90 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | CHSY1 CL E G H | 22856 | 17198 | OMIM:605282 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | | | | 67 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:609162 | Czech dysplasia, Metatarsal type | | | | 284 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | | | | 284 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:1856 | Spondyloperipheral dysplasia-short ulna syndrome | | | | 284 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | | | | 27 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:613684 | Rubinstein-Taybi syndrome 2 | | | | 250 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | | | | 114 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:123150 | Jackson-Weiss syndrome | | | | 172 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | | | | 172 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1540 | Jackson-Weiss syndrome | | | | 175 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123150 | Jackson-Weiss syndrome | | | | 175 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | | | | 493 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | | | | 493 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | | | | 233 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | | | | 233 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | | | | 52 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:200700 | Chondrodysplasia, Grebe type | . | | | 52 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:228900 | Fibular hypoplasia and complex brachydactyly | | | | 52 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | | | | 101 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | | | | 101 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612463 | PSEUDOPSEUDOHYPOPARATHYROIDISM | | | | 101 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | | | | 101 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:600430 | Chromosome 2q37 deletion syndrome | | | | 33 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | | | | 11 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | | | | 11 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93387 | Brachydactyly type E | | | | 25 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113300 | Brachydactyly, type E | | | | 25 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93409 | Brachydactyly-syndactyly, Zhao type | | | | 25 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | | | | 4 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | | | | 193 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | | | | 1 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | LMBR1 CL E G H | 64327 | 13243 | OMIM:200500 | ACHEIROPODY; ACHP | | | | 106 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | | | | 11 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | | | | 11 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | NPR2 CL E G H | 4882 | 7944 | OMIM:602875 | Acromesomelic dysplasia, Maroteaux type | | | | 53 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:950 | Acrodysostosis | | | | 113 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | | | | 113 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 113 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | | | | 113 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:266500 | Refsum disease | | | | 72 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PHYH CL E G H | 5264 | 8940 | OMIM:266500 | Refsum disease | | | | 45 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | | | | 9 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | | | | 10 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:950 | Acrodysostosis | | | | 134 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 134 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | | | | 6 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | | | | 6 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PTHLH CL E G H | 5744 | 9607 | ORPHA:93387 | Brachydactyly type E | | | | 6 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | PTHLH CL E G H | 5744 | 9607 | OMIM:613382 | Brachydactyly, type E2 | | | | 6 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | RAB33B CL E G H | 83452 | 16075 | OMIM:615222 | Smith-Mccort dysplasia 2 | | | | 53 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | RBPJ CL E G H | 3516 | 5724 | OMIM:614814 | Adams-Oliver syndrome 3 | | | | 3 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1401 | CHAND syndrome | | | | 69 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | | 2 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | | | | 67 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | | | | 166 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | | | | 23 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:605289 | Split-Hand/foot malformation 4 | | | | 140 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | | | | 171 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | | | | 171 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190351 | Trichorhinophalangeal syndrome, type III | | | | 171 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0001964 | HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | 0 | ZNF407 CL E G H | 55628 | 19904 | OMIM:619557 | SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA | | | | 68 | | |
HP:0001964 | HP:0040033 | Aplasia/Hypoplasia of the fifth metatarsal bone | 1 | CL E G H | | | | | | | | | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | HP:0040282 - Frequent | | | 90 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | CHSY1 CL E G H | 22856 | 17198 | OMIM:605282 | Temtamy preaxial brachydactyly syndrome | . | | | 16 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | . | | | 67 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:609162 | Czech dysplasia, Metatarsal type | . | | | 284 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:1856 | Spondyloperipheral dysplasia-short ulna syndrome | HP:0040283 - Occasional | | | 284 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | | | | 27 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | . | | | 65 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:613684 | Rubinstein-Taybi syndrome 2 | | | | 250 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | | | | 114 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:123150 | Jackson-Weiss syndrome | . | | | 172 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | . | | | 172 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123150 | Jackson-Weiss syndrome | . | | | 175 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1540 | Jackson-Weiss syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0001964 | HP:0010744 | Absent metatarsal bone | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 493 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | . | | | 233 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | HP:0040282 - Frequent | | | 52 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:228900 | Fibular hypoplasia and complex brachydactyly | | | | 52 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | . | | | 101 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | . | | | 101 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:612463 | PSEUDOPSEUDOHYPOPARATHYROIDISM | . | | | 101 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | HP:0040282 - Frequent | | | 101 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | HDAC4 CL E G H | 9759 | 14063 | OMIM:600430 | Chromosome 2q37 deletion syndrome | . | | | 33 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | | | | 11 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | | | | 11 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93387 | Brachydactyly type E | HP:0040283 - Occasional | | | 25 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113300 | Brachydactyly, type E | . | | | 25 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93409 | Brachydactyly-syndactyly, Zhao type | | | | 25 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 1 | | |
HP:0001964 | HP:0010744 | Absent metatarsal bone | 1 | LMBR1 CL E G H | 64327 | 13243 | OMIM:200500 | ACHEIROPODY; ACHP | | | | 106 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 11 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | . | | | 11 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | NPR2 CL E G H | 4882 | 7944 | OMIM:602875 | Acromesomelic dysplasia, Maroteaux type | . | | | 53 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:950 | Acrodysostosis | HP:0040281 - Very frequent | | | 113 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | . | | | 113 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 113 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PEX7 CL E G H | 5191 | 8860 | OMIM:266500 | Refsum disease | | | | 72 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PHYH CL E G H | 5264 | 8940 | OMIM:266500 | Refsum disease | | | | 45 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 9 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | . | | | 10 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:950 | Acrodysostosis | HP:0040281 - Very frequent | | | 134 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 134 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | . | | | 6 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | | | | 6 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PTHLH CL E G H | 5744 | 9607 | ORPHA:93387 | Brachydactyly type E | HP:0040283 - Occasional | | | 6 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | PTHLH CL E G H | 5744 | 9607 | OMIM:613382 | Brachydactyly, type E2 | . | | | 6 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | RAB33B CL E G H | 83452 | 16075 | OMIM:615222 | Smith-Mccort dysplasia 2 | . | | | 53 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | RBPJ CL E G H | 3516 | 5724 | OMIM:614814 | Adams-Oliver syndrome 3 | . | | | 3 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1401 | CHAND syndrome | | | | 69 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | | 2 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | . | | | 67 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040283 - Occasional | | | 166 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | . | | | 146 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040281 - Very frequent | | | 241 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | HP:0040281 - Very frequent | | | 171 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190351 | Trichorhinophalangeal syndrome, type III | . | | | 171 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | HP:0040282 - Frequent | | | 214 | | |
HP:0001964 | HP:0010744 | Absent metatarsal bone | 1 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | . | | | 546 | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0001964 | HP:0010743 | Short metatarsal | 1 | ZNF407 CL E G H | 55628 | 19904 | OMIM:619557 | SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA | | | | 68 | | |
HP:0001964 | HP:0011845 | Short second metatarsal | 2 | CL E G H | | | | | | | | | | |
HP:0001964 | HP:0008079 | Absent fifth metatarsal | 2 | CL E G H | | | | | | | | | | |
HP:0001964 | HP:0004689 | Short fourth metatarsal | 2 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0001964 | HP:0004704 | Short fifth metatarsal | 2 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0001964 | HP:0004689 | Short fourth metatarsal | 2 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0001964 | HP:0010105 | Short first metatarsal | 2 | EP300 CL E G H | 2033 | 3373 | OMIM:613684 | Rubinstein-Taybi syndrome 2 | | | | 250 | | |
HP:0001964 | HP:0004689 | Short fourth metatarsal | 2 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0001964 | HP:0004689 | Short fourth metatarsal | 2 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0001964 | HP:0010104 | Absent first metatarsal | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 175 | | |
HP:0001964 | HP:0004704 | Short fifth metatarsal | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0001964 | HP:0004704 | Short fifth metatarsal | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0001964 | HP:0004704 | Short fifth metatarsal | 2 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0001964 | HP:0004689 | Short fourth metatarsal | 2 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0001964 | HP:0004686 | Short third metatarsal | 2 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040284 - Very rare | | | 12 | | |
HP:0001964 | HP:0010105 | Short first metatarsal | 2 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0001964 | HP:0010105 | Short first metatarsal | 2 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | . | | | 11 | | |
HP:0001964 | HP:0004704 | Short fifth metatarsal | 2 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93409 | Brachydactyly-syndactyly, Zhao type | HP:0040281 - Very frequent | | | 25 | | |
HP:0001964 | HP:0004689 | Short fourth metatarsal | 2 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0001964 | HP:0004689 | Short fourth metatarsal | 2 | PEX7 CL E G H | 5191 | 8860 | OMIM:266500 | Refsum disease | . | | | 72 | | |
HP:0001964 | HP:0004689 | Short fourth metatarsal | 2 | PHYH CL E G H | 5264 | 8940 | OMIM:266500 | Refsum disease | . | | | 45 | | |
HP:0001964 | HP:0004689 | Short fourth metatarsal | 2 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0001964 | HP:0004689 | Short fourth metatarsal | 2 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0001964 | HP:0004704 | Short fifth metatarsal | 2 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1401 | CHAND syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0001964 | HP:0004689 | Short fourth metatarsal | 2 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001964 | HP:0004704 | Short fifth metatarsal | 2 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0001964 | HP:0004689 | Short fourth metatarsal | 2 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0001964 | HP:0010104 | Absent first metatarsal | 2 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 18 | | |
HP:0001964 | HP:0010105 | Short first metatarsal | 2 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0001964 | HP:0004689 | Short fourth metatarsal | 2 | ZNF407 CL E G H | 55628 | 19904 | OMIM:619557 | SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA | | | | 68 | | |