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:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:124480 | Deafness, congenital, and onychodystrophy, autosomal dominant | | | | 5 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:157801 | Mesoaxial synostotic syndactyly with phalangeal reduction | HP:0040281 - Very frequent | | | 4 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | BMP2 CL E G H | 650 | 1069 | ORPHA:93396 | Brachydactyly type A2 | | | | 13 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:112600 | Brachydactyly, type A2 | | | | 13 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93388 | Brachydactyly type A1 | | | | 90 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93396 | Brachydactyly type A2 | | | | 90 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | | | | 90 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:112600 | Brachydactyly, type A2 | | | | 90 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | | | | 79 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | | | | 284 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | | | | 65 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:101600 | Pfeiffer syndrome | | | | 172 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101600 | Pfeiffer syndrome | | | | 175 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | | | | 145 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:602849 | Muenke syndrome | | | | 145 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | | | | 29 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | | | | 52 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:63442 | Angel-shaped phalango-epiphyseal dysplasia | | | | 52 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93388 | Brachydactyly type A1 | | | | 52 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93396 | Brachydactyly type A2 | | | | 52 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | | | | 52 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | | | | 52 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:112600 | Brachydactyly, type A2 | | | | 52 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:186100 | Syndactyly, type III | | | | 68 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | | | | | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | | | | 11 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | | | | 11 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93409 | Brachydactyly-syndactyly, Zhao type | | | | 25 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | | | | 25 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | IFT57 CL E G H | 55081 | 17367 | OMIM:617927 | Orofaciodigital syndrome XVIII | | | | | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | | | | 9 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | IHH CL E G H | 3549 | 5956 | ORPHA:93388 | Brachydactyly type A1 | | | | 44 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | | | | 53 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | | | | 660 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:610140 | Heart-hand syndrome, Slovenian type | | | | 645 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | MECOM CL E G H | 2122 | 3498 | OMIM:616738 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 | | | | 4 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | MIR17HG CL E G H | 407975 | 23564 | ORPHA:391646 | Feingold syndrome type 2 | | | | 1 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | | | | 35 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | | | | 35 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | | | | 55 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | . | | | 22 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | NOG CL E G H | 9241 | 7866 | OMIM:185800 | Symphalangism, proximal, 1A | HP:0040283 - Occasional | | | 22 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | | | | 113 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | PHF6 CL E G H | 84295 | 18145 | OMIM:301900 | Borjeson-Forssman-Lehmann syndrome | | | | 29 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | . | | | 6 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:251255 | Jawad syndrome | | | | 68 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | | | | 120 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | | | | 90 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:156510 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | | | | 90 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:256050 | Atelosteogenesis, type II | | | | 166 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | | | | 104 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606835 | Digital arthropathy-brachydactyly, familial | | | | 214 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:85169 | Familial digital arthropathy-brachydactyly | | | | 214 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0009843 | HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0009843 | HP:0010239 | Aplasia of the middle phalanx of the hand | 1 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:124480 | Deafness, congenital, and onychodystrophy, autosomal dominant | | | | 5 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | BMP2 CL E G H | 650 | 1069 | ORPHA:93396 | Brachydactyly type A2 | HP:0040283 - Occasional | | | 13 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:112600 | Brachydactyly, type A2 | | | | 13 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93388 | Brachydactyly type A1 | HP:0040281 - Very frequent | | | 90 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93396 | Brachydactyly type A2 | HP:0040283 - Occasional | | | 90 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | HP:0040281 - Very frequent | | | 90 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:112600 | Brachydactyly, type A2 | | | | 90 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | . | | | 79 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | | | | 284 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | | | | 65 | | |
HP:0009843 | HP:0010239 | Aplasia of the middle phalanx of the hand | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:101600 | Pfeiffer syndrome | | | | 172 | | |
HP:0009843 | HP:0010239 | Aplasia of the middle phalanx of the hand | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101600 | Pfeiffer syndrome | | | | 175 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | HP:0040282 - Frequent | | | 145 | | |
HP:0009843 | HP:0010239 | Aplasia of the middle phalanx of the hand | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:602849 | Muenke syndrome | . | | | 145 | | |
HP:0009843 | HP:0010239 | Aplasia of the middle phalanx of the hand | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | | | | 29 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | | | | 52 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:63442 | Angel-shaped phalango-epiphyseal dysplasia | HP:0040281 - Very frequent | | | 52 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93388 | Brachydactyly type A1 | HP:0040281 - Very frequent | | | 52 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93396 | Brachydactyly type A2 | HP:0040283 - Occasional | | | 52 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | HP:0040281 - Very frequent | | | 52 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | | | | 52 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:112600 | Brachydactyly, type A2 | | | | 52 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | HP:0040281 - Very frequent | | | 52 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0009843 | HP:0010239 | Aplasia of the middle phalanx of the hand | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:186100 | Syndactyly, type III | | | | 68 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | | | | | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | | | | 11 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | | | | 11 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93409 | Brachydactyly-syndactyly, Zhao type | | | | 25 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | | | | 25 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0009843 | HP:0010239 | Aplasia of the middle phalanx of the hand | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | IFT57 CL E G H | 55081 | 17367 | OMIM:617927 | Orofaciodigital syndrome XVIII | . | | | | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | | | | 9 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | IHH CL E G H | 3549 | 5956 | ORPHA:93388 | Brachydactyly type A1 | HP:0040281 - Very frequent | | | 44 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040281 - Very frequent | | | 53 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | . | | | 91 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040281 - Very frequent | | | 660 | | |
HP:0009843 | HP:0010239 | Aplasia of the middle phalanx of the hand | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:610140 | Heart-hand syndrome, Slovenian type | . | | | 645 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | MECOM CL E G H | 2122 | 3498 | OMIM:616738 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 | | | | 4 | | |
HP:0009843 | HP:0010239 | Aplasia of the middle phalanx of the hand | 1 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | MIR17HG CL E G H | 407975 | 23564 | ORPHA:391646 | Feingold syndrome type 2 | HP:0040281 - Very frequent | | | 1 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | | | | 35 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | HP:0040281 - Very frequent | | | 35 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | | | | 55 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0009843 | HP:0010239 | Aplasia of the middle phalanx of the hand | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | HP:0040283 - Occasional | | | 531 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | PHF6 CL E G H | 84295 | 18145 | OMIM:301900 | Borjeson-Forssman-Lehmann syndrome | | | | 29 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | RBBP8 CL E G H | 5932 | 9891 | OMIM:251255 | Jawad syndrome | | | | 68 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | | | | 120 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | | | | 90 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | RUNX2 CL E G H | 860 | 10472 | OMIM:156510 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | | | | 90 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:256050 | Atelosteogenesis, type II | . | | | 166 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | | | | 104 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606835 | Digital arthropathy-brachydactyly, familial | . | | | 214 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:85169 | Familial digital arthropathy-brachydactyly | HP:0040281 - Very frequent | | | 214 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | HP:0040282 - Frequent | | | 214 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0009843 | HP:0005819 | Short middle phalanx of finger | 1 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0009843 | HP:0009294 | Absent middle phalanx of 4th finger | 2 | CL E G H | | | | | | | | | | |
HP:0009843 | HP:0009162 | Absent middle phalanx of 5th finger | 2 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:124480 | Deafness, congenital, and onychodystrophy, autosomal dominant | | | | 5 | | |
HP:0009843 | 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:0009843 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | BMP2 CL E G H | 650 | 1069 | OMIM:112600 | Brachydactyly, type A2 | . | | | 13 | | |
HP:0009843 | 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:0009843 | HP:0009638 | Short proximal phalanx of thumb | 2 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0009843 | 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:0009843 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | BMPR1B CL E G H | 658 | 1077 | OMIM:112600 | Brachydactyly, type A2 | . | | | 90 | | |
HP:0009843 | HP:0006110 | Shortening of all middle phalanges of the fingers | 2 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0009843 | 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:0009843 | HP:0006110 | Shortening of all middle phalanges of the fingers | 2 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0009843 | HP:0009637 | Absent proximal phalanx of thumb | 2 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0009843 | HP:0006110 | Shortening of all middle phalanges of the fingers | 2 | FGFR1 CL E G H | 2260 | 3688 | OMIM:101600 | Pfeiffer syndrome | . | | | 172 | | |
HP:0009843 | HP:0009637 | Absent proximal phalanx of thumb | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0009843 | HP:0006110 | Shortening of all middle phalanges of the fingers | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101600 | Pfeiffer syndrome | . | | | 175 | | |
HP:0009843 | HP:0009637 | Absent proximal phalanx of thumb | 2 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0009843 | HP:0009576 | Absent middle phalanx of 2nd finger | 2 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0009843 | 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:0009843 | HP:0006110 | Shortening of all middle phalanges of the fingers | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | . | | | 52 | | |
HP:0009843 | 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:0009843 | 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:0009843 | HP:0009439 | Short middle phalanx of the 3rd finger | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | | | | 52 | | |
HP:0009843 | HP:0009295 | Short middle phalanx of the 4th finger | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | | | | 52 | | |
HP:0009843 | HP:0009577 | Short middle phalanx of the 2nd finger | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | | | | 52 | | |
HP:0009843 | 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:0009843 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:112600 | Brachydactyly, type A2 | . | | | 52 | | |
HP:0009843 | HP:0009439 | Short middle phalanx of the 3rd finger | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0009843 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0009843 | HP:0009577 | Short middle phalanx of the 2nd finger | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0009843 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0009843 | HP:0009162 | Absent middle phalanx of 5th finger | 2 | GJA1 CL E G H | 2697 | 4274 | OMIM:186100 | Syndactyly, type III | . | | | 68 | | |
HP:0009843 | 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:0009843 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | . | | | | | |
HP:0009843 | HP:0006110 | Shortening of all middle phalanges of the fingers | 2 | HOXA13 CL E G H | 3209 | 5102 | ORPHA:2438 | Hand-foot-genital syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0009843 | HP:0006110 | Shortening of all middle phalanges of the fingers | 2 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | . | | | 11 | | |
HP:0009843 | HP:0009577 | Short middle phalanx of the 2nd finger | 2 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93409 | Brachydactyly-syndactyly, Zhao type | HP:0040281 - Very frequent | | | 25 | | |
HP:0009843 | 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:0009843 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | . | | | 25 | | |
HP:0009843 | HP:0009162 | Absent middle phalanx of 5th finger | 2 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0009843 | HP:0009576 | Absent middle phalanx of 2nd finger | 2 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0009843 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | . | | | 9 | | |
HP:0009843 | HP:0009638 | Short proximal phalanx of thumb | 2 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0009843 | HP:0009638 | Short proximal phalanx of thumb | 2 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0009843 | HP:0009577 | Short middle phalanx of the 2nd finger | 2 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0009843 | HP:0009295 | Short middle phalanx of the 4th finger | 2 | MECOM CL E G H | 2122 | 3498 | OMIM:616738 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 | | | | 4 | | |
HP:0009843 | HP:0009577 | Short middle phalanx of the 2nd finger | 2 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | HP:0040282 - Frequent | | | 35 | | |
HP:0009843 | 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:0009843 | 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:0009843 | HP:0009295 | Short middle phalanx of the 4th finger | 2 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0009843 | 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:0009843 | HP:0009438 | Absent middle phalanx of 3rd finger | 2 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0009843 | HP:0009576 | Absent middle phalanx of 2nd finger | 2 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0009843 | HP:0006110 | Shortening of all middle phalanges of the fingers | 2 | PHF6 CL E G H | 84295 | 18145 | OMIM:301900 | Borjeson-Forssman-Lehmann syndrome | . | | | 29 | | |
HP:0009843 | 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:0009843 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | RBBP8 CL E G H | 5932 | 9891 | OMIM:251255 | Jawad syndrome | . | | | 68 | | |
HP:0009843 | 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:0009843 | HP:0009577 | Short middle phalanx of the 2nd finger | 2 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0009843 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0009843 | HP:0009577 | Short middle phalanx of the 2nd finger | 2 | RUNX2 CL E G H | 860 | 10472 | OMIM:156510 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | . | | | 90 | | |
HP:0009843 | 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:0009843 | HP:0009577 | Short middle phalanx of the 2nd finger | 2 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0009843 | HP:0004220 | Short middle phalanx of the 5th finger | 2 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0009843 | 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:0009843 | 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 | | |