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:0010049 | HP:0010049 | Short metacarpal | 0 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | | | | 49 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | | | | 72 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | BGN CL E G H | 633 | 1044 | OMIM:300106 | Spondyloepimetaphyseal dysplasia, X-linked | . | | | 7 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | BMP2 CL E G H | 650 | 1069 | ORPHA:93396 | Brachydactyly type A2 | | | | 13 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | | | | 90 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93396 | Brachydactyly type A2 | | | | 90 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | BPNT2 CL E G H | 54928 | 26019 | OMIM:614078 | Chondrodysplasia with joint dislocations, Gpapp type | . | | | | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | . | | | 83 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | CHST3 CL E G H | 9469 | 1971 | ORPHA:263463 | CHST3-related skeletal dysplasia | HP:0040282 - Frequent | | | 165 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | CHSY1 CL E G H | 22856 | 17198 | OMIM:605282 | Temtamy preaxial brachydactyly syndrome | . | | | 16 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | . | | | 67 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | HP:0040283 - Occasional | | | 222 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | . | | | 222 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:609162 | Czech dysplasia, Metatarsal type | . | | | 284 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | COL9A3 CL E G H | 1299 | 2219 | OMIM:600969 | Epiphyseal dysplasia, multiple, 3, with or without myopathy | . | | | 137 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | COMP CL E G H | 1311 | 2227 | OMIM:132400 | Epiphyseal dysplasia, multiple, 1 | . | | | 89 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | COMP CL E G H | 1311 | 2227 | OMIM:177170 | Pseudoachondroplasia | | | | 89 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | | | | 89 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | | | | 27 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:618724 | HEYN-SPROUL-JACKSON SYNDROME; HESJAS | | | | 44 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:617604 | Microcephaly, short stature, and limb abnormalities | . | | | 9 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | . | | | 65 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | DYM CL E G H | 54808 | 21317 | OMIM:607326 | Smith-Mccort dysplasia 1 | . | | | 65 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | . | | | 4 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | EXT1 CL E G H | 2131 | 3512 | OMIM:133700 | Exostoses, multiple, type I | . | | | 96 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:321 | Multiple osteochondromas | HP:0040283 - Occasional | | | 96 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | EXT2 CL E G H | 2132 | 3513 | OMIM:133701 | Exostoses, multiple, type II | . | | | 102 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:321 | Multiple osteochondromas | HP:0040283 - Occasional | | | 102 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | | | | 114 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:969 | Acromicric dysplasia | HP:0040283 - Occasional | | | 1361 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:102370 | Acromicric dysplasia | . | | | 1361 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FBXL3 CL E G H | 26224 | 13599 | OMIM:606220 | Intellectual developmental disorder with short stature, facial anomalies, and speech defects | | | | | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | | | | 136 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FGF16 CL E G H | 8823 | 3672 | OMIM:309630 | Metacarpal 4-5 fusion | | | | 3 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | . | | | 172 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 493 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | | | | 493 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | . | | | 233 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:93328 | Autosomal dominant omodysplasia | | | | | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | FZD2 CL E G H | 2535 | 4040 | OMIM:164745 | OMODYSPLASIA | | | | | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | | | | 52 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:968 | Acromesomelic dysplasia, Hunter-Thompson type | HP:0040282 - Frequent | | | 52 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:63442 | Angel-shaped phalango-epiphyseal dysplasia | | | | 52 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93396 | Brachydactyly type A2 | | | | 52 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:228900 | Fibular hypoplasia and complex brachydactyly | | | | 52 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | . | | | 101 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:603233 | Pseudohypoparathyroidism, type IB | HP:0040283 - Occasional | | | 101 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | . | | | 101 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612463 | PSEUDOPSEUDOHYPOPARATHYROIDISM | . | | | 101 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | | | | 101 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GNAS-AS1 CL E G H | 149775 | 24872 | OMIM:603233 | Pseudohypoparathyroidism, type IB | HP:0040283 - Occasional | | | 1 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | HP:0040281 - Very frequent | | | 3 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | . | | | 3 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:600430 | Chromosome 2q37 deletion syndrome | . | | | 33 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | HHAT CL E G H | 55733 | 18270 | ORPHA:1422 | Chondrodysplasia-disorder of sex development syndrome | HP:0040281 - Very frequent | | | | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | HHAT CL E G H | 55733 | 18270 | OMIM:600092 | Nivelon-Nivelon-Mabille syndrome | . | | | | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | | | | 11 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | | | | 11 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93387 | Brachydactyly type E | HP:0040281 - Very frequent | | | 25 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113300 | Brachydactyly, type E | . | | | 25 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93409 | Brachydactyly-syndactyly, Zhao type | | | | 25 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | IFT80 CL E G H | 57560 | 29262 | OMIM:611263 | Asphyxiating thoracic dystrophy 2 | . | | | 65 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | | | | 18 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 1 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:1458 | CODAS syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | . | | | 8 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | LTBP3 CL E G H | 4054 | 6716 | ORPHA:969 | Acromicric dysplasia | HP:0040283 - Occasional | | | 12 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 11 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | . | | | 11 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | MATN3 CL E G H | 4148 | 6909 | OMIM:607078 | Epiphyseal dysplasia, multiple, 5 | | | | 32 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | NHS CL E G H | 4810 | 7820 | ORPHA:627 | Nance-Horan syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | NOG CL E G H | 9241 | 7866 | OMIM:185800 | Symphalangism, proximal, 1A | | | | 22 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186570 | Tarsal-Carpal coalition syndrome | | | | 22 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | NPR2 CL E G H | 4882 | 7944 | OMIM:602875 | Acromesomelic dysplasia, Maroteaux type | . | | | 53 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | P3H1 CL E G H | 64175 | 19316 | OMIM:610915 | Osteogenesis imperfecta, type VIII | . | | | 43 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | . | | | 11 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PDE3A CL E G H | 5139 | 8778 | ORPHA:1276 | Brachydactyly-arterial hypertension syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PDE3A CL E G H | 5139 | 8778 | OMIM:112410 | Hypertension and brachydactyly syndrome | . | | | 9 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:950 | Acrodysostosis | HP:0040281 - Very frequent | | | 113 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | . | | | 113 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 113 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040282 - Frequent | | | 72 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040282 - Frequent | | | 45 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 9 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | . | | | 10 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:950 | Acrodysostosis | HP:0040281 - Very frequent | | | 134 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 134 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619638 | SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP | | | | | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | . | | | 6 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | HP:0040282 - Frequent | | | 58 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PTHLH CL E G H | 5744 | 9607 | ORPHA:93387 | Brachydactyly type E | HP:0040281 - Very frequent | | | 6 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | PTHLH CL E G H | 5744 | 9607 | OMIM:613382 | Brachydactyly, type E2 | . | | | 6 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | RAB33B CL E G H | 83452 | 16075 | OMIM:615222 | Smith-Mccort dysplasia 2 | . | | | 53 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | . | | | 135 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250460 | Metaphyseal dysplasia without hypotrichosis | . | | | 37 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | . | | | 65 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | . | | | 2 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:156510 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | | | | 90 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | | | | 86 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SHOX CL E G H | 6473 | 10853 | OMIM:127300 | Leri-Weill dyschondrosteosis | | | | 66 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | . | | | 67 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040282 - Frequent | | | 166 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:226900 | Epiphyseal dysplasia, multiple, 4 | . | | | 166 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040283 - Occasional | | | 166 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | . | | | 24 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | . | | | 146 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | | | | 23 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | STX16 CL E G H | 8675 | 11431 | OMIM:603233 | Pseudohypoparathyroidism, type IB | HP:0040283 - Occasional | | | 86 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | . | | | 133 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | HP:0040281 - Very frequent | | | 171 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190351 | Trichorhinophalangeal syndrome, type III | . | | | 171 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | . | | | 546 | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0010049 | HP:0010049 | Short metacarpal | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | . | | | 49 | | |
HP:0010049 | HP:0006161 | Short metacarpals with rounded proximal ends | 1 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | . | | | 72 | | |
HP:0010049 | HP:0010038 | Short 2nd metacarpal | 1 | BMP2 CL E G H | 650 | 1069 | ORPHA:93396 | Brachydactyly type A2 | HP:0040283 - Occasional | | | 13 | | |
HP:0010049 | HP:0010047 | Short 5th metacarpal | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | | | | 90 | | |
HP:0010049 | HP:0010038 | Short 2nd metacarpal | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93396 | Brachydactyly type A2 | HP:0040283 - Occasional | | | 90 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0010049 | HP:0010047 | Short 5th metacarpal | 1 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0010049 | HP:0005720 | Shortening of all metacarpals | 1 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | HP:0040282 - Frequent | | | 89 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | . | | | 157 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | FBXL3 CL E G H | 26224 | 13599 | OMIM:606220 | Intellectual developmental disorder with short stature, facial anomalies, and speech defects | . | | | | | |
HP:0010049 | HP:0010047 | Short 5th metacarpal | 1 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040283 - Occasional | | | 136 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040283 - Occasional | | | 136 | | |
HP:0010049 | HP:0010047 | Short 5th metacarpal | 1 | FGF16 CL E G H | 8823 | 3672 | OMIM:309630 | Metacarpal 4-5 fusion | | | | 3 | | |
HP:0010049 | HP:0010047 | Short 5th metacarpal | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0010049 | HP:0010041 | Short 3rd metacarpal | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:93328 | Autosomal dominant omodysplasia | HP:0040281 - Very frequent | | | | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | FZD2 CL E G H | 2535 | 4040 | OMIM:164745 | OMODYSPLASIA | . | | | | | |
HP:0010049 | HP:0006011 | Cuboidal metacarpal | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:968 | Acromesomelic dysplasia, Hunter-Thompson type | HP:0040282 - Frequent | | | 52 | | |
HP:0010049 | HP:0006011 | Cuboidal metacarpal | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | . | | | 52 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:63442 | Angel-shaped phalango-epiphyseal dysplasia | HP:0040281 - Very frequent | | | 52 | | |
HP:0010049 | HP:0010038 | Short 2nd metacarpal | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93396 | Brachydactyly type A2 | HP:0040283 - Occasional | | | 52 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | HP:0040282 - Frequent | | | 52 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0010049 | HP:0010041 | Short 3rd metacarpal | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040283 - Occasional | | | 101 | | |
HP:0010049 | HP:0010047 | Short 5th metacarpal | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0010049 | HP:0010047 | Short 5th metacarpal | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0010049 | HP:0010041 | Short 3rd metacarpal | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040283 - Occasional | | | 101 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | HP:0040282 - Frequent | | | 101 | | |
HP:0010049 | HP:0010047 | Short 5th metacarpal | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | HP:0040282 - Frequent | | | 101 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | . | | | 11 | | |
HP:0010049 | HP:0010047 | Short 5th metacarpal | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93409 | Brachydactyly-syndactyly, Zhao type | HP:0040281 - Very frequent | | | 25 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0010049 | HP:0010041 | Short 3rd metacarpal | 1 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0010049 | HP:0010047 | Short 5th metacarpal | 1 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0010049 | HP:0010047 | Short 5th metacarpal | 1 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 494 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0010049 | HP:0010047 | Short 5th metacarpal | 1 | NOG CL E G H | 9241 | 7866 | OMIM:185800 | Symphalangism, proximal, 1A | . | | | 22 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186570 | Tarsal-Carpal coalition syndrome | | | | 22 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619638 | SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP | | | | | | |
HP:0010049 | HP:0010047 | Short 5th metacarpal | 1 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619638 | SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP | | | | | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | . | | | 665 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | . | | | 40 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0010049 | HP:0010047 | Short 5th metacarpal | 1 | RUNX2 CL E G H | 860 | 10472 | OMIM:156510 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | . | | | 90 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | . | | | 86 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | SHOX CL E G H | 6473 | 10853 | OMIM:127300 | Leri-Weill dyschondrosteosis | | | | 66 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0010049 | HP:0010047 | Short 5th metacarpal | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | . | | | 124 | | |
HP:0010049 | HP:0010047 | Short 5th metacarpal | 1 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0010049 | HP:0010041 | Short 3rd metacarpal | 1 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0010049 | HP:0010044 | Short 4th metacarpal | 1 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0010049 | HP:0010034 | Short 1st metacarpal | 1 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |