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:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | | | | 49 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | | | | 90 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | | | | 90 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | | | | 493 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:93328 | Autosomal dominant omodysplasia | | | | | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | FZD2 CL E G H | 2535 | 4040 | OMIM:164745 | OMODYSPLASIA | | | | | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:63442 | Angel-shaped phalango-epiphyseal dysplasia | | | | 52 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | | | | 52 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | | | | 101 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | | | | 11 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | | | | 11 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:93321 | Radial hemimelia | | | | 106 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | | | | 11 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186570 | Tarsal-Carpal coalition syndrome | | | | 22 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | | | | 86 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93321 | Radial hemimelia | | | | 67 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | | | | 8 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0009658 | HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | 0 | XRCC2 CL E G H | 7516 | 12829 | OMIM:617247 | FANCONI ANEMIA, COMPLEMENTATION GROUP U | | | | 125 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | | | | 49 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | | | | 49 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | | | | 90 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | | | | 90 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | HP:0040281 - Very frequent | | | 90 | | |
HP:0009658 | HP:0009629 | Aplasia/Hypoplasia of the proximal phalanx of the thumb | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0009658 | HP:0009659 | Partial absence of thumb | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0009658 | HP:0009659 | Partial absence of thumb | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009658 | HP:0009629 | Aplasia/Hypoplasia of the proximal phalanx of the thumb | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009658 | HP:0009659 | Partial absence of thumb | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009658 | HP:0009629 | Aplasia/Hypoplasia of the proximal phalanx of the thumb | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009658 | HP:0009659 | Partial absence of thumb | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009658 | HP:0009629 | Aplasia/Hypoplasia of the proximal phalanx of the thumb | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009658 | HP:0009659 | Partial absence of thumb | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | | | | 493 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:93328 | Autosomal dominant omodysplasia | | | | | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:93328 | Autosomal dominant omodysplasia | | | | | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | FZD2 CL E G H | 2535 | 4040 | OMIM:164745 | OMODYSPLASIA | | | | | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | FZD2 CL E G H | 2535 | 4040 | OMIM:164745 | OMODYSPLASIA | | | | | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:63442 | Angel-shaped phalango-epiphyseal dysplasia | | | | 52 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:63442 | Angel-shaped phalango-epiphyseal dysplasia | | | | 52 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | HP:0040281 - Very frequent | | | 52 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | | | | 101 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | | | | 11 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | | | | 11 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | | | | 11 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | | | | 11 | | |
HP:0009658 | HP:0009629 | Aplasia/Hypoplasia of the proximal phalanx of the thumb | 1 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0009658 | HP:0009629 | Aplasia/Hypoplasia of the proximal phalanx of the thumb | 1 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0009658 | HP:0009659 | Partial absence of thumb | 1 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:93321 | Radial hemimelia | | | | 106 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:93321 | Radial hemimelia | | | | 106 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | | | | 11 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186570 | Tarsal-Carpal coalition syndrome | | | | 22 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186570 | Tarsal-Carpal coalition syndrome | | | | 22 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | | | | 86 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | | | | 86 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0009658 | HP:0009659 | Partial absence of thumb | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93321 | Radial hemimelia | | | | 67 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93321 | Radial hemimelia | | | | 67 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | | | | 8 | | |
HP:0009658 | HP:0009659 | Partial absence of thumb | 1 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0009658 | HP:0009659 | Partial absence of thumb | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0009658 | HP:0009660 | Short phalanx of the thumb | 1 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0009658 | HP:0009659 | Partial absence of thumb | 1 | XRCC2 CL E G H | 7516 | 12829 | OMIM:617247 | FANCONI ANEMIA, COMPLEMENTATION GROUP U | | | | 125 | | |
HP:0009658 | HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | 1 | XRCC2 CL E G H | 7516 | 12829 | OMIM:617247 | FANCONI ANEMIA, COMPLEMENTATION GROUP U | | | | 125 | | |
HP:0009658 | HP:0009649 | Aplasia of the distal phalanx of the thumb | 2 | CL E G H | | | | | | | | | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | . | | | 49 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | | | | 90 | | |
HP:0009658 | HP:0009650 | Short distal phalanx of the thumb | 2 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0009658 | HP:0009638 | Short proximal phalanx of thumb | 2 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0009658 | HP:0010035 | Aplasia of the 1st metacarpal | 2 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | . | | | 157 | | |
HP:0009658 | HP:0009637 | Absent proximal phalanx of thumb | 2 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0009658 | HP:0009637 | Absent proximal phalanx of thumb | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0009658 | HP:0009637 | Absent proximal phalanx of thumb | 2 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0009658 | HP:0010035 | Aplasia of the 1st metacarpal | 2 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0009658 | HP:0009650 | Short distal phalanx of the thumb | 2 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 493 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | FZD2 CL E G H | 2535 | 4040 | ORPHA:93328 | Autosomal dominant omodysplasia | HP:0040281 - Very frequent | | | | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | FZD2 CL E G H | 2535 | 4040 | OMIM:164745 | OMODYSPLASIA | . | | | | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | GDF5 CL E G H | 8200 | 4220 | ORPHA:63442 | Angel-shaped phalango-epiphyseal dysplasia | HP:0040281 - Very frequent | | | 52 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | HP:0040282 - Frequent | | | 52 | | |
HP:0009658 | HP:0009650 | Short distal phalanx of the thumb | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | HP:0040283 - Occasional | | | 101 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | . | | | 11 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0009658 | HP:0009638 | Short proximal phalanx of thumb | 2 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0009658 | HP:0009638 | Short proximal phalanx of thumb | 2 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0009658 | HP:0009650 | Short distal phalanx of the thumb | 2 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0009658 | HP:0010035 | Aplasia of the 1st metacarpal | 2 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:93321 | Radial hemimelia | HP:0040281 - Very frequent | | | 106 | | |
HP:0009658 | HP:0009650 | Short distal phalanx of the thumb | 2 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040282 - Frequent | | | 11 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 494 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | NOG CL E G H | 9241 | 7866 | OMIM:186570 | Tarsal-Carpal coalition syndrome | | | | 22 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0009658 | HP:0009650 | Short distal phalanx of the thumb | 2 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0009658 | HP:0009650 | Short distal phalanx of the thumb | 2 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | . | | | 665 | | |
HP:0009658 | HP:0009650 | Short distal phalanx of the thumb | 2 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | . | | | 40 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0009658 | HP:0009650 | Short distal phalanx of the thumb | 2 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | . | | | 86 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0009658 | HP:0010035 | Aplasia of the 1st metacarpal | 2 | SHH CL E G H | 6469 | 10848 | ORPHA:93321 | Radial hemimelia | HP:0040281 - Very frequent | | | 67 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0009658 | HP:0009650 | Short distal phalanx of the thumb | 2 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | . | | | 124 | | |
HP:0009658 | HP:0010035 | Aplasia of the 1st metacarpal | 2 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0009658 | HP:0010035 | Aplasia of the 1st metacarpal | 2 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0009658 | HP:0010034 | Short 1st metacarpal | 2 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0009658 | HP:0010035 | Aplasia of the 1st metacarpal | 2 | XRCC2 CL E G H | 7516 | 12829 | OMIM:617247 | FANCONI ANEMIA, COMPLEMENTATION GROUP U | | | | 125 | | |