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:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 254 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618470 | Intellectual developmental disorder with severe speech and ambulation defects | . | | | 2 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | ALG6 CL E G H | 29929 | 23157 | ORPHA:79320 | ALG6-CDG | | | | 66 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040281 - Very frequent | | | | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | ARSL CL E G H | 415 | 719 | OMIM:302950 | Chondrodysplasia punctata 1, X-linked recessive | . | | | | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | CCDC22 CL E G H | 28952 | 28909 | OMIM:300963 | Ritscher-Schinzel syndrome 2 | . | | | 33 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | CHST11 CL E G H | 50515 | 17422 | OMIM:618167 | Osteochondrodysplasia, brachydactyly, and overlapping malformed digits | . | | | 1 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:53 | Albers-Schönberg osteopetrosis | HP:0040281 - Very frequent | | | 102 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | . | | | 67 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | . | | | 79 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | HP:0040281 - Very frequent | | | 284 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040284 - Very rare | | | 284 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | COMP CL E G H | 1311 | 2227 | OMIM:177170 | Pseudoachondroplasia | | | | 89 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | . | | | 4 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | . | | | 14 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 115 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 209 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 137 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 493 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:2484 | Melnick-Needles syndrome | HP:0040282 - Frequent | | | 493 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90650 | Otopalatodigital syndrome type 1 | HP:0040282 - Frequent | | | 493 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:503 | Larsen syndrome | HP:0040281 - Very frequent | | | 233 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040284 - Very rare | | | 9 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | FTSJ1 CL E G H | 24140 | 13254 | OMIM:309549 | Mental retardation, X-linked 9 | | | | 13 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | | | | 52 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | GGCX CL E G H | 2677 | 4247 | OMIM:277450 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | . | | | 129 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | | | | 101 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | | | | | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93387 | Brachydactyly type E | HP:0040282 - Frequent | | | 25 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93406 | Syndactyly type 5 | HP:0040281 - Very frequent | | | 25 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186300 | Syndactyly, type V | . | | | 25 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 93 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 4 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | IFT57 CL E G H | 55081 | 17367 | OMIM:617927 | Orofaciodigital syndrome XVIII | . | | | | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | | | | 9 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | . | | | 44 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | . | | | 13 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 23 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | . | | | 81 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040281 - Very frequent | | | 645 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 11 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040282 - Frequent | | | 3 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | MGP CL E G H | 4256 | 7060 | ORPHA:85202 | Keutel syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | . | | | 68 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040281 - Very frequent | | | | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | NOG CL E G H | 9241 | 7866 | ORPHA:140908 | Brachydactyly type B2 | HP:0040281 - Very frequent | | | 22 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | . | | | 22 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | NOG CL E G H | 9241 | 7866 | OMIM:184460 | Stapes ankylosis with broad thumb and toes | | | | 22 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 452 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 8 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 20 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PHF6 CL E G H | 84295 | 18145 | OMIM:301900 | Borjeson-Forssman-Lehmann syndrome | | | | 29 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 36 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | . | | | 37 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PIGO CL E G H | 84720 | 23215 | OMIM:614749 | Hyperphosphatasia with mental retardation syndrome 2 | | | | 84 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 84 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | | | | 57 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 57 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 6 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 2 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | . | | | 10 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | PTHLH CL E G H | 5744 | 9607 | ORPHA:93387 | Brachydactyly type E | HP:0040282 - Frequent | | | 6 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | RBPJ CL E G H | 3516 | 5724 | OMIM:614814 | Adams-Oliver syndrome 3 | . | | | 3 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040281 - Very frequent | | | 120 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040282 - Frequent | | | 143 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2095 | Gorlin-Chaudhry-Moss syndrome | HP:0040281 - Very frequent | | | | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2963 | Progeroid syndrome, Petty type | HP:0040281 - Very frequent | | | | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | | | | 87 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | . | | | 14 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | . | | | 24 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 271 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | HP:0040281 - Very frequent | | | 171 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606835 | Digital arthropathy-brachydactyly, familial | . | | | 214 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:85169 | Familial digital arthropathy-brachydactyly | HP:0040281 - Very frequent | | | 214 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | HP:0040282 - Frequent | | | 214 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 95 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | . | | | 95 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 136 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | . | | | 136 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | . | | | 17 | | |
HP:0009882 | HP:0009882 | Short distal phalanx of finger | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:90154 | Mandibuloacral dysplasia with type B lipodystrophy | HP:0040281 - Very frequent | | | 83 | | |
HP:0009882 | HP:0006118 | Shortening of all distal phalanges of the fingers | 1 | ALG6 CL E G H | 29929 | 23157 | ORPHA:79320 | ALG6-CDG | HP:0040283 - Occasional | | | 66 | | |
HP:0009882 | HP:0004227 | Short distal phalanx of the 5th finger | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0009882 | HP:0009566 | Short distal phalanx of the 2nd finger | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0009882 | HP:0009650 | Short distal phalanx of the thumb | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0009882 | HP:0006118 | Shortening of all distal phalanges of the fingers | 1 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0009882 | HP:0009566 | Short distal phalanx of the 2nd finger | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0009882 | HP:0009290 | Short distal phalanx of the 4th finger | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0009882 | HP:0004227 | Short distal phalanx of the 5th finger | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0009882 | HP:0004180 | Short distal phalanx of the 3rd finger | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0009882 | HP:0009650 | Short distal phalanx of the thumb | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 493 | | |
HP:0009882 | HP:0004180 | Short distal phalanx of the 3rd finger | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | HP:0040283 - Occasional | | | 101 | | |
HP:0009882 | HP:0009650 | Short distal phalanx of the thumb | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | HP:0040283 - Occasional | | | 101 | | |
HP:0009882 | HP:0004227 | Short distal phalanx of the 5th finger | 1 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | . | | | | | |
HP:0009882 | HP:0004227 | Short distal phalanx of the 5th finger | 1 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0009882 | HP:0004227 | Short distal phalanx of the 5th finger | 1 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | . | | | 9 | | |
HP:0009882 | HP:0009650 | Short distal phalanx of the thumb | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0009882 | HP:0009650 | Short distal phalanx of the thumb | 1 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 11 | | |
HP:0009882 | HP:0006118 | Shortening of all distal phalanges of the fingers | 1 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0009882 | HP:0006118 | Shortening of all distal phalanges of the fingers | 1 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0009882 | HP:0006118 | Shortening of all distal phalanges of the fingers | 1 | PHF6 CL E G H | 84295 | 18145 | OMIM:301900 | Borjeson-Forssman-Lehmann syndrome | . | | | 29 | | |
HP:0009882 | HP:0006118 | Shortening of all distal phalanges of the fingers | 1 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0009882 | HP:0006118 | Shortening of all distal phalanges of the fingers | 1 | PIGO CL E G H | 84720 | 23215 | OMIM:614749 | Hyperphosphatasia with mental retardation syndrome 2 | | | | 84 | | |
HP:0009882 | HP:0006118 | Shortening of all distal phalanges of the fingers | 1 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 84 | | |
HP:0009882 | HP:0006118 | Shortening of all distal phalanges of the fingers | 1 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0009882 | HP:0006118 | Shortening of all distal phalanges of the fingers | 1 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0009882 | HP:0006118 | Shortening of all distal phalanges of the fingers | 1 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0009882 | HP:0006118 | Shortening of all distal phalanges of the fingers | 1 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0009882 | HP:0009650 | Short distal phalanx of the thumb | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0009882 | HP:0006118 | Shortening of all distal phalanges of the fingers | 1 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0009882 | HP:0009650 | Short distal phalanx of the thumb | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | . | | | 665 | | |
HP:0009882 | HP:0009650 | Short distal phalanx of the thumb | 1 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | . | | | 40 | | |
HP:0009882 | HP:0009650 | Short distal phalanx of the thumb | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0009882 | HP:0004227 | Short distal phalanx of the 5th finger | 1 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | | | | 87 | | |
HP:0009882 | HP:0009650 | Short distal phalanx of the thumb | 1 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | . | | | 124 | | |
HP:0009882 | HP:0006118 | Shortening of all distal phalanges of the fingers | 1 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |