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:0001156 | HP:0001156 | Brachydactyly | 0 | ACAN CL E G H | 176 | 319 | OMIM:165800 | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | HP:0040284 - Very rare | | | 34 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ACAN CL E G H | 176 | 319 | ORPHA:435804 | Short stature-advanced bone age-early-onset osteoarthritis syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ACAN CL E G H | 176 | 319 | ORPHA:171866 | Spondyloepimetaphyseal dysplasia, aggrecan type | HP:0040281 - Very frequent | | | 34 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | . | | | 34 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ADAMTS10 CL E G H | 81794 | 13201 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040281 - Very frequent | | | 63 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | | | | 63 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ADAMTS17 CL E G H | 170691 | 17109 | OMIM:613195 | Weill-Marchesani syndrome 4 | HP:0040284 - Very rare | | | 214 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040284 - Very rare | | | 47 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | . | | | 6 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | AHSG CL E G H | 197 | 349 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | . | | | 60 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ALG6 CL E G H | 29929 | 23157 | ORPHA:79320 | ALG6-CDG | HP:0040284 - Very rare | | | 66 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | . | | | 9 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | HP:0040282 - Frequent | | | 9 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2176 | Infantile systemic hyalinosis | HP:0040281 - Very frequent | | | 49 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | APC2 CL E G H | 10297 | 24036 | OMIM:617169 | Sotos syndrome 3 | | | | 1 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | . | | | 147 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | . | | | 88 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | . | | | 25 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 29 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:600151 | Bardet-Biedl syndrome 3 | . | | | 29 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:124480 | Deafness, congenital, and onychodystrophy, autosomal dominant | . | | | 5 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040282 - Frequent | | | 192 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BBIP1 CL E G H | 92482 | 28093 | OMIM:615995 | Bardet-Biedl syndrome 18 | . | | | 1 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 114 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BBS4 CL E G H | 585 | 969 | OMIM:615982 | Bardet-Biedl syndrome 4 | . | | | 87 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BBS5 CL E G H | 129880 | 970 | OMIM:615983 | Bardet-Biedl syndrome 5 | | | | 25 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BGN CL E G H | 633 | 1044 | OMIM:300106 | Spondyloepimetaphyseal dysplasia, X-linked | . | | | 7 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BMP2 CL E G H | 650 | 1069 | ORPHA:93396 | Brachydactyly type A2 | | | | 13 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:112600 | Brachydactyly, type A2 | | | | 13 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | . | | | 38 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | . | | | 90 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040281 - Very frequent | | | 90 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93396 | Brachydactyly type A2 | | | | 90 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | | | | 90 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:112600 | Brachydactyly, type A2 | | | | 90 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2639 | Fibular aplasia-complex brachydactyly syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BPNT2 CL E G H | 54928 | 26019 | OMIM:614078 | Chondrodysplasia with joint dislocations, Gpapp type | . | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | . | | | 276 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | C12ORF57 CL E G H | 113246 | 29521 | OMIM:218340 | Temtamy syndrome | . | | | 13 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CAMK2G CL E G H | 818 | 1463 | OMIM:618522 | Intellectual developmental disorder 59 | . | | | 1 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 317 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 4 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CCDC32 CL E G H | 90416 | 28295 | OMIM:619123 | CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS | | | | 1 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | HP:0040284 - Very rare | | | 2 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040283 - Occasional | | | 515 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CHRNA7 CL E G H | 1139 | 1960 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | 52 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CHST11 CL E G H | 50515 | 17422 | OMIM:618167 | Osteochondrodysplasia, brachydactyly, and overlapping malformed digits | . | | | 1 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CHST3 CL E G H | 9469 | 1971 | ORPHA:263463 | CHST3-related skeletal dysplasia | HP:0040281 - Very frequent | | | 165 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CHSY1 CL E G H | 22856 | 17198 | OMIM:605282 | Temtamy preaxial brachydactyly syndrome | . | | | 16 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | . | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 5 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | HP:0040281 - Very frequent | | | 215 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | HP:0040281 - Very frequent | | | 222 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | HP:0040282 - Frequent | | | 222 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:132450 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | . | | | 284 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166011 | Multiple epiphyseal dysplasia, Beighton type | HP:0040282 - Frequent | | | 284 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | | | | 284 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | . | | | 284 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:1856 | Spondyloperipheral dysplasia-short ulna syndrome | | | | 284 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:619248 | VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED | | | | 284 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | COMP CL E G H | 1311 | 2227 | OMIM:177170 | Pseudoachondroplasia | | | | 89 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | HP:0040282 - Frequent | | | 89 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | . | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | . | | | 4 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | OMIM:618870 | SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CSNK2A1 CL E G H | 1457 | 2457 | OMIM:617062 | Okur-Chung neurodevelopmental syndrome | . | | | 12 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CTSK CL E G H | 1513 | 2536 | OMIM:265800 | PYCNODYSOSTOSIS | . | | | 39 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | HP:0040281 - Very frequent | | | 39 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DBH CL E G H | 1621 | 2689 | OMIM:223360 | Dopamine beta-hydroxylase deficiency, congenital | | | | 80 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DCPS CL E G H | 28960 | 29812 | OMIM:616459 | Al-Raqad syndrome | . | | | 5 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DLL4 CL E G H | 54567 | 2910 | OMIM:616589 | Adams-Oliver syndrome 6 | . | | | 9 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:617604 | Microcephaly, short stature, and limb abnormalities | . | | | 9 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | . | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DPH2 CL E G H | 1802 | 3004 | OMIM:620062 | | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 14 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | . | | | 304 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | HP:0040282 - Frequent | | | 304 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | HP:0040282 - Frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DYNC2I1 CL E G H | 55112 | 21862 | OMIM:615503 | Short rib-polydactyly syndrome, type VI | . | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | HP:0040282 - Frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DYNC2I2 CL E G H | 89891 | 28296 | OMIM:615633 | Short-Rib thoracic dysplasia 11 with or without polydactyly | . | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | . | | | 7 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | DYNLT2B CL E G H | 255758 | 28482 | OMIM:617405 | Short-Rib thoracic dysplasia 17 with or without polydactyly | . | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | HP:0040282 - Frequent | | | 27 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | . | | | 223 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | EPB41L1 CL E G H | 2036 | 3378 | OMIM:614257 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11 | | | | 29 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ERF CL E G H | 2077 | 3444 | OMIM:617180 | Chitayat syndrome | | | | 12 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040282 - Frequent | | | 92 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | EVC CL E G H | 2121 | 3497 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 209 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 137 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | EXOSC2 CL E G H | 23404 | 17097 | OMIM:617763 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | . | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040283 - Occasional | | | 96 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | . | | | 3 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:602361 | Gracile bone dysplasia | . | | | 8 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:969 | Acromicric dysplasia | HP:0040281 - Very frequent | | | 1361 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGF9 CL E G H | 2254 | 3687 | ORPHA:3237 | Multiple synostoses syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2645 | Osteoglosphonic dysplasia | HP:0040283 - Occasional | | | 172 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:614592 | Bent bone dysplasia syndrome | . | | | 175 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | HP:0040281 - Very frequent | | | 175 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 175 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | . | | | 145 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | HP:0040282 - Frequent | | | 145 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:93262 | Crouzon syndrome-acanthosis nigricans syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:146000 | HYPOCHONDROPLASIA | . | | | 145 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:429 | Hypochondroplasia | HP:0040281 - Very frequent | | | 145 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:35099 | Isolated brachycephaly | HP:0040283 - Occasional | | | 145 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:602849 | Muenke syndrome | | | | 145 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:1860 | Thanatophoric dysplasia type 1 | HP:0040281 - Very frequent | | | 145 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:93274 | Thanatophoric dysplasia type 2 | HP:0040281 - Very frequent | | | 145 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187601 | Thanatophoric dysplasia, type II | . | | | 145 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300244 | Terminal osseous dysplasia | . | | | 493 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:88630 | Terminal osseous dysplasia-pigmentary defects syndrome | | | | 493 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:1190 | Atelosteogenesis type I | HP:0040282 - Frequent | | | 233 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | . | | | 233 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:503 | Larsen syndrome | HP:0040281 - Very frequent | | | 233 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FLT4 CL E G H | 2324 | 3767 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 90 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | . | | | 70 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | | | | 29 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 87 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GATA5 CL E G H | 140628 | 15802 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 10 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 37 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GDF1 CL E G H | 2657 | 4214 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 28 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040281 - Very frequent | | | 52 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:968 | Acromesomelic dysplasia, Hunter-Thompson type | HP:0040281 - Very frequent | | | 52 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:63442 | Angel-shaped phalango-epiphyseal dysplasia | | | | 52 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93396 | Brachydactyly type A2 | | | | 52 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | | | | 52 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | HP:0040280 - Obligate | | | 52 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:112600 | Brachydactyly, type A2 | | | | 52 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | . | | | 52 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2639 | Fibular aplasia-complex brachydactyly syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:228900 | Fibular hypoplasia and complex brachydactyly | | | | 52 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:3237 | Multiple synostoses syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:610017 | Multiple synostoses syndrome 2 | . | | | 52 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:3250 | Proximal symphalangism | HP:0040282 - Frequent | | | 52 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:617898 | Multiple synostoses syndrome 4 | HP:0040284 - Very rare | | | 64 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GHR CL E G H | 2690 | 4263 | ORPHA:633 | Laron syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040283 - Occasional | | | 68 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040283 - Occasional | | | 68 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GJA5 CL E G H | 2702 | 4279 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 39 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GJB3 CL E G H | 2707 | 4285 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040283 - Occasional | | | 74 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GJB4 CL E G H | 127534 | 4286 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040283 - Occasional | | | 12 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:2762 | Progressive osseous heteroplasia | HP:0040283 - Occasional | | | 101 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | . | | | 101 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:603233 | Pseudohypoparathyroidism, type IB | HP:0040283 - Occasional | | | 101 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | . | | | 101 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612463 | PSEUDOPSEUDOHYPOPARATHYROIDISM | . | | | 101 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | HP:0040282 - Frequent | | | 101 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GNAS-AS1 CL E G H | 149775 | 24872 | OMIM:603233 | Pseudohypoparathyroidism, type IB | HP:0040283 - Occasional | | | 1 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:301026 | Keipert syndrome | . | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | . | | | 3 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040282 - Frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | HHAT CL E G H | 55733 | 18270 | OMIM:600092 | Nivelon-Nivelon-Mabille syndrome | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | . | | | 11 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:176305 | Preaxial deficiency, postaxial polydactyly, and hypospadias | . | | | 11 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93387 | Brachydactyly type E | | | | 25 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113200 | Brachydactyly, type D | | | | 25 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113300 | Brachydactyly, type E | . | | | 25 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:610713 | BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD | | | | 25 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93409 | Brachydactyly-syndactyly, Zhao type | | | | 25 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186300 | Syndactyly, type V | . | | | 25 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | | | | 25 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:79414 | Woolly hair nevus | | | | 113 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 93 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | HP:0040282 - Frequent | | | 148 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | . | | | 48 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | . | | | 11 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 | | | | 11 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 4 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IFT57 CL E G H | 55081 | 17367 | OMIM:617927 | Orofaciodigital syndrome XVIII | . | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IFT80 CL E G H | 57560 | 29262 | OMIM:611263 | Asphyxiating thoracic dystrophy 2 | . | | | 65 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | . | | | 2 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | | | | 9 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | . | | | 44 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | . | | | 44 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | INPP5K CL E G H | 51763 | 33882 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:2746 | Opsismodysplasia | HP:0040281 - Very frequent | | | 18 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ITGB6 CL E G H | 3694 | 6161 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | JAG1 CL E G H | 182 | 6188 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 257 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KAT6A CL E G H | 7994 | 13013 | ORPHA:457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | . | | | 141 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | . | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | . | | | 81 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KDR CL E G H | 3791 | 6307 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 40 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KDSR CL E G H | 2531 | 4021 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040283 - Occasional | | | 4 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 4 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | . | | | 167 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 167 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KLF13 CL E G H | 51621 | 13672 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:3339 | Toriello-Lacassie-Droste syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LBR CL E G H | 3930 | 6518 | ORPHA:1426 | Greenberg dysplasia | HP:0040281 - Very frequent | | | 70 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | | | | 144 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:610140 | Heart-hand syndrome, Slovenian type | . | | | 645 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:168796 | Heart-hand syndrome, Slovenian type | HP:0040283 - Occasional | | | 645 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:1458 | CODAS syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LSS CL E G H | 4047 | 6708 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LTBP2 CL E G H | 4053 | 6715 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040281 - Very frequent | | | 123 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:614819 | Weill-Marchesani syndrome 3 | . | | | 123 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LTBP3 CL E G H | 4054 | 6716 | ORPHA:969 | Acromicric dysplasia | HP:0040281 - Very frequent | | | 12 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | . | | | 12 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MACROH2A1 CL E G H | 9555 | 4740 | ORPHA:1275 | Brachydactyly-elbow wrist dysplasia syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MAF CL E G H | 4094 | 6776 | OMIM:601088 | Ayme-Gripp syndrome | | | | 21 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | . | | | 63 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | . | | | 134 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | . | | | 11 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:3238 | Cardiospondylocarpofacial syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:619692 | TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9 | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MBTPS1 CL E G H | 8720 | 15456 | OMIM:618392 | Spondyloepiphyseal dysplasia, Kondo-Fu type | . | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:776 | Lujan-Fryns syndrome | HP:0040283 - Occasional | | | 228 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | HP:0040280 - Obligate | | | 13 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MIR140 CL E G H | 406932 | 31527 | OMIM:618618 | SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MIR17HG CL E G H | 407975 | 23564 | ORPHA:391646 | Feingold syndrome type 2 | HP:0040282 - Frequent | | | 1 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MRPS16 CL E G H | 51021 | 14048 | OMIM:610498 | Combined oxidative phosphorylation deficiency 2 | . | | | 60 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MSX2 CL E G H | 4488 | 7392 | OMIM:604757 | Craniosynostosis 2 | HP:0040283 - Occasional | | | 45 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | | | | 35 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MYMK CL E G H | 389827 | 33778 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | MYMX CL E G H | 101929726 | 52391 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 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:0001156 | HP:0001156 | Brachydactyly | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | . | | | 25 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | | | | 55 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 90 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 3 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NOG CL E G H | 9241 | 7866 | ORPHA:140908 | Brachydactyly type B2 | | | | 22 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NOG CL E G H | 9241 | 7866 | ORPHA:3237 | Multiple synostoses syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | . | | | 22 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NOG CL E G H | 9241 | 7866 | ORPHA:3250 | Proximal symphalangism | HP:0040282 - Frequent | | | 22 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186570 | Tarsal-Carpal coalition syndrome | . | | | 22 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 452 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | . | | | 452 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NPR2 CL E G H | 4882 | 7944 | ORPHA:40 | Acromesomelic dysplasia, Maroteaux type | HP:0040282 - Frequent | | | 53 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | NXN CL E G H | 64359 | 18008 | OMIM:618529 | Robinow syndrome, autosomal recessive 2 | . | | | 2 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 201 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | HP:0040284 - Very rare | | | 641 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PAPSS2 CL E G H | 9060 | 8604 | OMIM:612847 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes | . | | | 20 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | . | | | 59 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | HP:0040281 - Very frequent | | | 531 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | . | | | 11 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PDE3A CL E G H | 5139 | 8778 | ORPHA:1276 | Brachydactyly-arterial hypertension syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PDE3A CL E G H | 5139 | 8778 | OMIM:112410 | Hypertension and brachydactyly syndrome | . | | | 9 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:950 | Acrodysostosis | HP:0040281 - Very frequent | | | 113 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | . | | | 113 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 113 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 1 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:601812 | Premature aging syndrome, Penttinen type | . | | | 28 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040284 - Very rare | | | 15 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PIGK CL E G H | 10026 | 8965 | OMIM:618879 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PITX1 CL E G H | 5307 | 9004 | ORPHA:1275 | Brachydactyly-elbow wrist dysplasia syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PITX1 CL E G H | 5307 | 9004 | OMIM:186550 | Synostosis, carpal, with dysplastic elbow joints and brachydactyly | . | | | 8 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PLCB3 CL E G H | 5331 | 9056 | OMIM:618961 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040282 - Frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:2377 | Laurence-Moon syndrome | HP:0040283 - Occasional | | | 103 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | . | | | 10 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | . | | | 2 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | . | | | 6 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PPM1D CL E G H | 8493 | 9277 | OMIM:617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | . | | | 22 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PPP1CB CL E G H | 5500 | 9282 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040283 - Occasional | | | 9 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PPP3CA CL E G H | 5530 | 9314 | OMIM:618265 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | . | | | 2 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 148 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:950 | Acrodysostosis | HP:0040281 - Very frequent | | | 134 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 134 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | . | | | 6 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | . | | | 665 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:377 | Gorlin syndrome | HP:0040282 - Frequent | | | 665 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | . | | | 40 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PTCH2 CL E G H | 8643 | 9586 | ORPHA:377 | Gorlin syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040281 - Very frequent | | | 6 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PTHLH CL E G H | 5744 | 9607 | ORPHA:93387 | Brachydactyly type E | | | | 6 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PTHLH CL E G H | 5744 | 9607 | OMIM:613382 | Brachydactyly, type E2 | . | | | 6 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 291 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | . | | | 291 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | HP:0040280 - Obligate | | | 31 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | HP:0040283 - Occasional | | | 25 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 212 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | HP:0040282 - Frequent | | | 365 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:251255 | Jawad syndrome | | | | 68 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:607095 | Anauxetic dysplasia | . | | | 37 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:226960 | EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS | | | | 15 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:1824 | Lowry-Wood syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | . | | | 15 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040281 - Very frequent | | | 120 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | | | | 120 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | . | | | 120 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | 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:0001156 | HP:0001156 | Brachydactyly | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040282 - Frequent | | | 90 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:156510 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | | | | 90 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 129 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SHOC2 CL E G H | 8036 | 15454 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040283 - Occasional | | | 74 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | HP:0040281 - Very frequent | | | 66 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SIK3 CL E G H | 23387 | 29165 | OMIM:618162 | Spondyloepimetaphyseal dysplasia, Krakow type | . | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SIL1 CL E G H | 64374 | 24624 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040282 - Frequent | | | 67 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040282 - Frequent | | | 166 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:226900 | Epiphyseal dysplasia, multiple, 4 | . | | | 166 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040282 - Frequent | | | 166 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | HP:0040283 - Occasional | | | 255 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | | | | 71 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | . | | | 9 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SLURP1 CL E G H | 57152 | 18746 | OMIM:248300 | Meleda disease | | | | 15 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | . | | | 504 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040281 - Very frequent | | | 504 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | . | | | 146 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | HP:0040281 - Very frequent | | | 146 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | . | | | 135 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | . | | | 91 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | . | | | 14 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 315 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | 30 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | . | | | 66 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | HP:0040283 - Occasional | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | . | | | 24 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | STX16 CL E G H | 8675 | 11431 | OMIM:603233 | Pseudohypoparathyroidism, type IB | HP:0040283 - Occasional | | | 86 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | . | | | 124 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:377 | Gorlin syndrome | HP:0040282 - Frequent | | | 124 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 32 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TBX15 CL E G H | 6913 | 11594 | ORPHA:93333 | Pelviscapular dysplasia | HP:0040280 - Obligate | | | 5 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TBX22 CL E G H | 50945 | 11600 | ORPHA:921 | Abruzzo-Erickson syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TCF12 CL E G H | 6938 | 11623 | OMIM:615314 | Craniosynostosis 3 | HP:0040283 - Occasional | | | 28 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TCF12 CL E G H | 6938 | 11623 | ORPHA:35099 | Isolated brachycephaly | HP:0040283 - Occasional | | | 28 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:258860 | Orofaciodigital syndrome IV | . | | | 31 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 31 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040282 - Frequent | | | 12 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | | | | 104 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | . | | | 253 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | | | | 1 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 45 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:602152 | Rhyns syndrome | . | | | 166 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TNNT3 CL E G H | 7140 | 11950 | OMIM:618435 | Arthrogryposis, distal, type 2B2 | . | | | 43 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040282 - Frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 61 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | . | | | 8 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | | | | 133 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040283 - Occasional | | | 171 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190351 | Trichorhinophalangeal syndrome, type III | . | | | 171 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606835 | Digital arthropathy-brachydactyly, familial | | | | 214 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:85169 | Familial digital arthropathy-brachydactyly | HP:0040281 - Very frequent | | | 214 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | . | | | 214 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | HP:0040282 - Frequent | | | 214 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | HP:0040282 - Frequent | | | 132 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TTC21B CL E G H | 79809 | 25660 | OMIM:613819 | Short-Rib thoracic dysplasia 4 with or without polydactyly | . | | | 132 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:35099 | Isolated brachycephaly | HP:0040283 - Occasional | | | 18 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 18 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | UPF3B CL E G H | 65109 | 20439 | ORPHA:776 | Lujan-Fryns syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040283 - Occasional | | | 20 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 95 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:474 | Jeune syndrome | HP:0040282 - Frequent | | | 95 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | . | | | 95 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 136 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | . | | | 136 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | WNT4 CL E G H | 54361 | 12783 | ORPHA:247768 | Müllerian aplasia and hyperandrogenism | HP:0040283 - Occasional | | | 4 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 98 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | YY1AP1 CL E G H | 55249 | 30935 | OMIM:602531 | Grange syndrome | . | | | 5 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ZDHHC9 CL E G H | 51114 | 18475 | ORPHA:776 | Lujan-Fryns syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 31 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ZIC1 CL E G H | 7545 | 12872 | ORPHA:35099 | Isolated brachycephaly | HP:0040283 - Occasional | | | 5 | | |
HP:0001156 | HP:0001156 | Brachydactyly | 0 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0001156 | HP:0006008 | Unilateral brachydactyly | 1 | CL E G H | | | | | | | | | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | BMP2 CL E G H | 650 | 1069 | ORPHA:93396 | Brachydactyly type A2 | | | | 13 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:112600 | Brachydactyly, type A2 | | | | 13 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93396 | Brachydactyly type A2 | | | | 90 | | |
HP:0001156 | HP:0009373 | Type C brachydactyly | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | HP:0040281 - Very frequent | | | 90 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:112600 | Brachydactyly, type A2 | | | | 90 | | |
HP:0001156 | HP:0005863 | Type E brachydactyly | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:1856 | Spondyloperipheral dysplasia-short ulna syndrome | HP:0040282 - Frequent | | | 284 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | | | | 29 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:63442 | Angel-shaped phalango-epiphyseal dysplasia | | | | 52 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93396 | Brachydactyly type A2 | | | | 52 | | |
HP:0001156 | HP:0009373 | Type C brachydactyly | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | HP:0040281 - Very frequent | | | 52 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | | | | 52 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:112600 | Brachydactyly, type A2 | | | | 52 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | | | | | | |
HP:0001156 | HP:0005863 | Type E brachydactyly | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93387 | Brachydactyly type E | HP:0040281 - Very frequent | | | 25 | | |
HP:0001156 | HP:0005627 | Type D brachydactyly | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113200 | Brachydactyly, type D | . | | | 25 | | |
HP:0001156 | HP:0005863 | Type E brachydactyly | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113300 | Brachydactyly, type E | . | | | 25 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93409 | Brachydactyly-syndactyly, Zhao type | | | | 25 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | | | | 25 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | | | | 9 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | | | | 35 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | | | | 55 | | |
HP:0001156 | HP:0005831 | Type B brachydactyly | 1 | NOG CL E G H | 9241 | 7866 | ORPHA:140908 | Brachydactyly type B2 | HP:0040281 - Very frequent | | | 22 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0001156 | HP:0005863 | Type E brachydactyly | 1 | PTHLH CL E G H | 5744 | 9607 | ORPHA:93387 | Brachydactyly type E | HP:0040281 - Very frequent | | | 6 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | RBBP8 CL E G H | 5932 | 9891 | OMIM:251255 | Jawad syndrome | | | | 68 | | |
HP:0001156 | HP:0005831 | Type B brachydactyly | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | . | | | 120 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | | | | 90 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | RUNX2 CL E G H | 860 | 10472 | OMIM:156510 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | | | | 90 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | | | | 104 | | |
HP:0001156 | HP:0005872 | Brachytelomesophalangy | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606835 | Digital arthropathy-brachydactyly, familial | . | | | 214 | | |
HP:0001156 | HP:0009370 | Type A brachydactyly | 1 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0001156 | HP:0031044 | Type A5 brachydactyly | 2 | CL E G H | | | | | | | | | | |
HP:0001156 | HP:0031043 | Type A4 brachydactyly | 2 | CL E G H | | | | | | | | | | |
HP:0001156 | HP:0009372 | Type A2 brachydactyly | 2 | BMP2 CL E G H | 650 | 1069 | ORPHA:93396 | Brachydactyly type A2 | HP:0040281 - Very frequent | | | 13 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | BMP2 CL E G H | 650 | 1069 | ORPHA:93396 | Brachydactyly type A2 | HP:0040283 - Occasional | | | 13 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | BMP2 CL E G H | 650 | 1069 | OMIM:112600 | Brachydactyly, type A2 | . | | | 13 | | |
HP:0001156 | HP:0009372 | Type A2 brachydactyly | 2 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93396 | Brachydactyly type A2 | HP:0040281 - Very frequent | | | 90 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93396 | Brachydactyly type A2 | HP:0040283 - Occasional | | | 90 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | BMPR1B CL E G H | 658 | 1077 | OMIM:112600 | Brachydactyly, type A2 | . | | | 90 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 14 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | . | | | 29 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | GDF5 CL E G H | 8200 | 4220 | ORPHA:63442 | Angel-shaped phalango-epiphyseal dysplasia | HP:0040281 - Very frequent | | | 52 | | |
HP:0001156 | HP:0009372 | Type A2 brachydactyly | 2 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93396 | Brachydactyly type A2 | HP:0040281 - Very frequent | | | 52 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93396 | Brachydactyly type A2 | HP:0040283 - Occasional | | | 52 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | | | | 52 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:112600 | Brachydactyly, type A2 | . | | | 52 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | . | | | | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93409 | Brachydactyly-syndactyly, Zhao type | HP:0040281 - Very frequent | | | 25 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | . | | | 25 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | . | | | 9 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | HP:0040282 - Frequent | | | 35 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | HP:0040282 - Frequent | | | 55 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0001156 | HP:0009371 | Type A1 brachydactyly | 2 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | RBBP8 CL E G H | 5932 | 9891 | OMIM:251255 | Jawad syndrome | . | | | 68 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | . | | | 120 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | RUNX2 CL E G H | 860 | 10472 | OMIM:156510 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | . | | | 90 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040282 - Frequent | | | 104 | | |
HP:0001156 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 98 | | |