| Buzuqlik | Xromosoma yoki gen | Turi | Malumot | Tarqalishi |
|---|
| 1p36 o'chirish sindromi | 1 | D. | | 1:7,500 |
| 18p o'chirish sindromi | 18p | D. | | 1:50,000 |
| 21-gidroksilaza etishmovchiligi | 6p21.3 | retsessiv | | 1:15,000 |
| Alfa 1-antitripsin etishmovchiligi | 14q32 | birgalikda dominant, | | 1:2,500-5,000 |
| AAA sindromi (achalasia-addisonianism-alacrima sindromi) | AAAS | retsessiv | | |
| Aarskog-Skott sindromi | FGD1 | X bilan bog'langan retsessiv | | 1:25,000 |
| ABCD sindromi | EDNRB | retsessiv | | 1:18,000-20,000 |
| Aceruloplazminemiya | CP (3p26.3) | retsessiv | | 1:2,000,000 |
| Acheiropodia | LMBR1 | retsessiv | | |
| Akondrogenez II tip | COL2A1 (12q13.11) | dominant | | 1:40,000-60,000 |
| akondroplaziya | FGFR3 (4p16.3) | dominant | | 1:2,000 |
| O'tkir davriy porfiriya | HMBS | dominant va retsessiv shakllar | | 1:500-50,000 |
| adenilosuksinat liaza etishmovchiligi | ADSL | retsessiv | | 1:7,800,0000 |
| Adrenoleukodistrofiya | ABCD1 (X) | retsessiv | | 1:17,000 |
| Alagil sindromi | JAG1, NOTCH2 | dominant | [1] | 1:30,000-50,000 |
| Kattalar sindromi | TP63 | dominant | | |
| Aikardi-Goutier sindromi | TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1 | | | 1:19,500,000 |
| Albinizm | | | | 1:18,000-20,000 |
| Aleksandr kasalligi | GFAP | | | 1:15,600,000 |
| alkaptonuriya | HGD | | | 1:250,000-1,000,000 |
| Alport sindromi | 10q26.13 COL4A3, COL4A4va COL4A5 | | | 1:5,000-10,000 |
| Bolalikning o'zgaruvchan gemipleji | ATP1A3 | | | 1:1,000,000 |
| Amiotrofik lateral skleroz – Frontotemporal demans | C9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT | | | 1:100,000 |
| Alstrom sindromi | ALMS1 | | | 1:8,600,000 |
| Altsgeymer kasalligi | PSEN1, PSEN2, APP, APOEε4 | | | 1:177 |
| Amelogenesis imperfecta | | | | 1:14,000 |
| Aminolevulin kislotasi dehidrataza etishmovchiligi porfiriya | ALAD | | | 1:780,000,000 |
| Androgenga befarqlik sindromi | | | | 1:20,000-50,000 |
| Angelman sindromi | UBE3A | | | 1:12,000-20,000 |
| Apert sindromi | FGFR2 | | | 1:65,000-80,000 |
| Arthrogryposis - buyrak disfunktsiyasi - kolestaz sindromi | VPS33B | | | 1:78,000,000 |
| Ataksiya telangiektazi | Bankomat | | | 1:40,000-1,000,000 |
| Axenfeld sindromi | PITX2, FOXO1A, FOXC1, PAX6 | | | 1:200,000 |
| Bear-Stevenson cutis gyrata sindromi | 10q26, FGFR2 | | | 1:390,000,000 |
| Bekvit-Videmann sindromi | IGF-2, CDKN1C, H19, KCNQ1OT1 | | | 1:15,000 |
| Benjamin sindromi | | | | 1:20,000,000 |
| biotinidaza etishmovchiligi | BTD | | | 1:110,000,000 |
| Byornstad sindromi | BCS1L | | | 1:260,000,000 |
| Bloom sindromi | 15q26.1 | | | 1:480,000 |
| Birt-Xogg-Dube sindromi | 17 FLCN | | | 1:19,500,000 |
| Brody miyopati | ATP2A1 | | | 1:10,000,000 |
| Brunner sindromi | MAOA | | | 1:500,000,000 |
| CADASIL sindromi | NOTCH3 | P | | 1:156,000,000 |
| CRASIL sindromi | HTRA1 | | | 1:156,000,000 |
| Surunkali granulomatoz buzilish | | | | 1:200,000 |
| Kampomel displazi | X 17q24.3 – q25.1 | C | | 1:40,000-200,000 |
| Kanavan kasalligi | ASPA | | | 1:6,400-13,500 |
| Duradgor sindromi | RAB23 | | | 1:1,000,000 |
| Miya disgenezi - neyropatiya - ichtiyoz - keratoderma sindromi (SEDNIK) | SNAP29 | | | 1:1,000,000,000 |
| Kistik fibroz | CFTR (7q31.2) | D yoki S | [2] | 1:100,000 |
| Charcot-Mari-Tish kasalligi | PMP22, MFN2 | | | 1:2,500 |
| CHARGE sindromi | CHD7 | | | 1:8,500-10,000 |
| Chediyak-Xigashi sindromi | LYST | retsessiv | | 1:39,000,000 |
| Kleidokranial disostoz | RUNX2 | | | 1:7,800 |
| Kokain sindromi | ERCC6, ERCC8 | | | 1:2,600-3,900 |
| Tobut-Louri sindromi | X RPS6KA3 | | | 1:40,000-50,000 |
| Koen sindromi | COH1 | | | 1:7,800,000 |
| kollagenopatiya, II va XI turlari | COL11A1, COL11A2, COL2A1 | | | |
| Anhidroz bilan og'rig'iga tug'ma befarqligi (CIPA) | NTRK1 | | | |
| Tug'ma mushaklar distrofiyasi | bir nechta | dominant yoki retsessiv | [3] | |
| Korneliya de Lange sindromi (CDLS) | HDAC8, SMC1A, NIPBL, SMA3, RAD21 | | | |
| Kovden sindromi | PTEN | | | |
| CPO etishmovchiligi (koproporfiya) | CPOX | | | |
| Kranio-lentikulo-sutural displazi | 14q13 – q21 | | | |
| Cri du chat | 5p | D. | | |
| Crohn kasalligi | 16q12 | P | | |
| Crouzon sindromi | FGFR2, FGFR3 | | | |
| Crouzonodermoskeletal sindrom (Acanthosis nigricans bilan Crouzon sindromi) | FGFR3 | | | |
| Darier kasalligi | ATP2A2 | | | |
| Dent kasalligi (Genetik giperkalsiyuriya) | Xp11.22 CLCN5, OCRL | | | |
| Denis-Drash sindromi | WT1 | | | |
| De Grouchi sindromi | 18q | D. | | |
| Daun sindromi | 21 | C | | |
| Di Jorj sindromi | 22q11.2 | D. | | |
| Distal irsiy motorli neyropatiyalar, bir nechta turlari | HSPB8, HSPB1, HSPB3, GARS, REEP1, IGHMBP2, SLC5A7, DCTN1, TRPV4, SIGMAR1 | | | |
| Distal mushak distrofiyasi | Disferlin, TIA1, GNE (gen), MYH7, Titin, MYOT, MATR3, noma'lum | Dominant yoki retsessiv | [4] | |
| Duxenne mushak distrofiyasi | Distrofin | X bilan bog'langan retsessiv | [5] | |
| Dravet sindromi | SCN1A, SCN2A | | | |
| Edvards sindromi | 18 | trisomiya | | |
| Ehlers-Danlos sindromi | COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2, PLOD1, B4GALT7, DSE | dominant | | |
| Emeri-Dreifuss sindromi | EMD, LMNA, Sintez1, SYNE2, FHL1, TMEM43 | | | |
| Epidermolizning buqasi | KRT5, KRT14, DSP, PKP1, JUP, PLEC1, DST, EXPH5, TGM5, LAMA3, LAMB3, LAMC2, COL17A1, ITGA6, ITGA4, ITGA3, COL7A1, FERMT1 | dominant yoki retsessiv | [6][7] | 11.08:1,000,000 |
| Eritropoetik protoporfiriya | FECH | | | |
| Fankoni anemiyasi (FA) | FANKA, FANCB, MUXLIS, FANCD1, FANCD2, FANSIYA, MUXLIS, FANCG, FANCI, FANCJ, MUXLIS, FANCM, FANCN, FANCP, MUXLISLAR, RAD51C, XPF | | | |
| Fabry kasalligi | GLA (Xq22.1) | P | | |
| V omil Leyden trombofili | | | | |
| O'limga olib keladigan oilaviy uyqusizlik | PRNP | dominant | | |
| Oilaviy adenomatoz polipoz | APC | | | |
| Oilaviy dysautonomiya | IKBKAP | | | |
| Oilaviy Kreytsfeld-Yakob kasalligi | PRNP | dominant | | |
| Feingold sindromi | MYCN | | | |
| FG sindromi | MED12 | | | |
| Mo'rt X sindromi | FMR1 | T | | |
| Fridrixning ataksiyasi | FXN | T | | |
| G6PD etishmovchiligi | | | | |
| Galaktozemiya | GALT, GALK1, GALE | | | |
| Gaucher kasalligi | GBA (1) | | | |
| Gerstmann-Sträussler-Scheinker sindromi | PRNP | dominant | | |
| Gillespi sindromi | PAX6 | | | |
| Glutarik asiduriya, I turi va 2 turi | GCDH, ETFA, ETFB, ETFDH | retsessiv | | |
| GRACILE sindromi | BCS1L | | | |
| Griscelli sindromi | MYO5A, RAB27A, MLPH | | | |
| Xeyli-Xeyli kasalligi | ATP2C1 (3) | | | |
| Arlekin turi ichtioz | ABCA12 | | | |
| Gemoxromatoz, irsiy | HFE, XAMP, HFE2B, TFR2, TF, CP | | | |
| Gemofiliya | FVIII | | | |
| Gepatoeritropoetik porfiriya | UROD | | | |
| Irsiy koproporfiriya | 3q12 | P | | |
| Irsiy gemorragik telangiektaziya (Osler-Weber-Rendu sindromi) | ENG, ACVRL1, MADH4 | | | 1:5,000 [8] |
| Irsiy qo'shilish tanasi miyopatiyasi | GNE, MYHC2A, VCP, HNRPA2B1, HNRNPA1 | | | |
| Ko'plab ekzostozlar | EXT1, EXT2, EXT3 | | | |
| Irsiy spastik paraplegiya (infantil boshlangan ko'tariladigan irsiy spastik falaj) | AP4M1, AP4S1, AP4B1, AP4E1 | autosomal dominant, autosomal retsessiv yoki X bilan bog'langan retsessiv | | |
| Hermanskiy-Pudlak sindromi | HPS1, HPS3, HPS4, HPS5, HPS6, HPS7, AP3B1 | | | |
| Bosim falajlari uchun javobgar bo'lgan irsiy neyropatiya (HNPP) | PMP22 | | | |
| Heterotaktsiya | NODAL, NKX2-5, ZIC3, CCDC11, CFC1, SESN1 | | | |
| Gomosistinuriya | CBS (gen) | retsessiv | [9] | |
| Xantington kasalligi | xromosoma 4 HTT geni | autosomal dominant | [1: 10000 AQSh] | | |
| Hunter sindromi | ID | | |
| Hurler sindromi | IDUA | | | |
| Xatchinson-Gilford progeriya sindromi | LMNA | | | |
| Giperlizinemiya | AASS | retsessiv | | |
| Giperoksaluriya, birlamchi | AGXT, GRHPR, DHDPSL | | | |
| Giperfenilalaninemiya | 12q | | | |
| Gipoalfalipoproteinemiya (Tanjer kasalligi) | ABCA1 | | | |
| Gipoxondrogenez | COL2A1 | | | |
| Gipoxondroplaziya | FGFR3 (4p16.3) | | | |
| Immunitet tanqisligi - sentromerik beqarorlik - yuz anomaliyalari sindromi (ICF sindromi) | 20q11.2 | | | |
| Incontinentia pigmenti | IKBKG (Xq28) | P | | |
| Ischiopatellar displazi | TBX4 | dominant | | |
| Izoditsentrik 15 | 15q11–14 | Taklif qiling | | 1:30,000 [10] |
| Jekson-Vayss sindromi | FGFR2 | | | |
| Jubert sindromi | INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423, AMRC9 | | | |
| Voyaga etmaganlarning birlamchi lateral sklerozi (JPLS) | ALS2 | | | |
| Keloid buzilishi | | | | |
| Eng zo'r displazi | COL2A1 | | | |
| Kosaki haddan tashqari o'sish sindromi | PDGFRB | | | |
| Krabbe kasalligi | GALC | | | |
| Kufor-Rakeb sindromi | ATP13A2 | | | |
| LCAT etishmovchiligi | LCAT | | | |
| Lesch-Nyhan sindromi | HPRT (X) | | | |
| Li-Fraumeni sindromi | TP53 | | | |
| Oyoq-kamar mushaklari distrofiyasi | Bir nechta | dominant yoki retsessiv | [11][12] | |
| Lynch sindromi | MSH2, MLH1, MSH6, PMS2, PMS1, TGFBR2, MLH3 | | | |
| lipoprotein lipaz etishmovchiligi | | retsessiv | | |
| Xatarli gipertermiya | RYR1 (19q13.2) | dominant | | |
| Maple siropi siydik kasalligi | BCKDHA, BCKDHB, DBT, DLD | retsessiv | | |
| Marfan sindromi | 15 | dominant | | |
| Maroteaux-Lamy sindromi | ARSB | retsessiv | | |
| Makkun-Olbrayt sindromi | 20 q13.2-13.3 | | | |
| McLeod sindromi | XK (X) | | | |
| MEDNIK sindromi | AP1S1 | D. | [13][14] | |
| O'rta er dengizi isitmasi, oilaviy | MEFV | | | |
| Menkes kasalligi | ATP7A (Xq21.1) | | | |
| Methemoglobinemiya | | | | |
| Metilmalonik atsemiya | MMAA, MMAB, MMACHC, MMADHC, LMBRD1, MUT | retsessiv | | |
| Mikro sindrom | RAB3GAP (2q21.3) | | | |
| Mikrosefali | ASPM (1q31) | P | | |
| Morquio sindromi | GALNS, GLB1 | | | |
| Movat-Uilson sindromi | ZEB2 (2) | | | |
| Muenke sindromi | FGFR3 | | | |
| Ko'p sonli endokrin neoplaziya 1-tur (Vermer sindromi) | MEN1 | dominant | | |
| Ko'p sonli endokrin neoplaziya 2 turi | RET | dominant | | |
| Muskul distrofiyasi | bir nechta | AR, AD, X bilan bog'langan | | |
| Mushak distrofiyasi, Dyuxen va Beker turi | | | | |
| Miostatin bilan bog'liq mushaklarning gipertrofiyasi | MSTN | | | |
| myotonik distrofiya | DMPK, CNBP | dominant yoki T | | |
| Natowicz sindromi | HYAL1 | | | |
| Neyrofibromatoz I turi | 17q11.2 | | | |
| Neyrofibromatoz II tip | | | | |
| Niman-Pick kasalligi | SMPD1, NPA, NPB, NPC1, NPC2 | | | |
| Nonketotik hiperglisinemiya | GLDC, AMT, GCSH | retsessiv | | |
| Nonsindromik karlik | | | | |
| Noonan sindromi | PTPN11, KRAS, SOS1, RAF1, NRAS, HRAS, BRAF, SHOC2, MAP2K1, MAP2K2, CBL | dominant | | |
| Norman-Roberts sindromi | RELN | retsessiv | | |
| Ogden sindromi | X | P | | |
| Omenn sindromi | RAG1, RAG2 | retsessiv | | |
| Osteogenez imperfecta | COL1A1, COL1A2, IFITM5 | dominant | | |
| Pantotenat kinaz bilan bog'liq neyrodejeneratsiya | PANK2 (20p13 – p12.3) | retsessiv | | |
| Patau sindromi (Trisomiya 13) | 13 | trisomiya | | |
| PCC etishmovchiligi (propionik atsidemiya) | Kompyuter | retsessiv | | |
| Porfiriya kutanea tarda (PCT) | UROD | dominant | | |
| Pendred sindromi | PDS (7) | retsessiv | | |
| Peutz-Jeghers sindromi | STK11 | dominant | | |
| Pfeiffer sindromi | FGFR1, FGFR2 | dominant | | |
| Fenilketonuriya | PAH | retsessiv | | |
| Pipekolik asidemiya | AASDHPPT | retsessiv | | |
| Pitt-Xopkins sindromi | TCF4 (18) | dominant, de novo | | |
| Polikistik buyrak kasalligi | PKD1 (16) yoki PKD2 (4) | P | | |
| Polikistik tuxumdon sindromi (PCOS) | | | | |
| Porfiriya | | | | |
| Prader-Villi sindromi | 15 | otalik imprinting | | |
| Birlamchi siliyer diskineziasi (PCD) | DNAI1, DNAH5, TXNDC3, DNAH11, DNAI2, KTU, RSPH4A, RSPH9, LRRC50 | retsessiv | | |
| Birlamchi o'pka gipertenziyasi | | | | |
| Protein C etishmasligi | PROC | dominant | [15] | |
| Protein S etishmasligi | PROS1 | dominant | | |
| Pseudo-Gaucher kasalligi | | | | |
| Psevdoksantoma elastik | ABCC6 | retsessiv | | |
| Retinit pigmentozasi | RP1, RP2, RPGR, PRPH2, IMPDH1, PRPF31, CRB1, PRPF8, TULP1, CA4, HPRPF3, ABCA4, EYS, CERKL, FSCN2, TOPORS, SNRNP200, PRCD, NR2E3, MERTL, CNH, USH ARL6, DHDDS, BEST1, LRAT, SPARA7, CRX | dominant yoki retsessiv | | |
| Rett sindromi | MECP2 | dominant, ko'pincha de novo | | |
| Roberts sindromi | ESCO2 | retsessiv | | |
| Rubinshteyn-Taybi sindromi (RSTS) | CREBBP | dominant | | |
| Sandhoff kasalligi | HEXB | retsessiv | | |
| Sanfilippo sindromi | SGSH, NAGLU, HGSNAT, GNS | | | |
| Shvarts-Jampel sindromi | HSPG2 | retsessiv | | |
| Sjogren-Larsson sindromi | ALDH3A2 | Avtosomal-retsessiv | [1], [2],[3] | |
| Spondiloepipizal displazi konjenita (SED) | COL2A1 | dominant | | |
| Shprintzen-Goldberg sindromi | FBN1 | dominant | | |
| O'roqsimon hujayra anemiyasi | 11p15 | P | | |
| Siderius X bilan bog'liq bo'lgan aqliy zaiflashish sindromi | PHF8 | X-bog'langan retsessiv | [16] | |
| Sideroblastik anemiya | ABCB7, SLC25A38, GLRX5 | retsessiv | | |
| Sly sindromi | GUSB | retsessiv | | |
| Smit-Lemli-Opits sindromi | DHCR7 | retsessiv | | |
| Smit-Magenis sindromi | 17p11.2 | dominant | | |
| Snyder-Robinson sindromi | Xp21.3-p22.12 | retsessiv | |
| Orqa miya mushaklari atrofiyasi | 5q | | | |
| Spinoserebellar ataksiya (1–29 turlar) | ATXN1, ATXN2, ATXN3, PLEKHG4, SPTBN2, CACNA1A, ATXN7, ATXN8OS, ATXN10, TTBK2, PPP2R2B, KCNC3, PRKCG, ITPR1, TBP, KCND3, FGF14 | dominant, retsessiv yoki T | | |
| SSB sindromi (SADDAN) | FGFR3 | dominant | | |
| Stargardt kasalligi (makula degeneratsiyasi) | ABCA4, CNGB3, ELOVL4, PROM1 | dominant yoki retsessiv | | |
| Stikler sindromi (bir nechta shakllar) | COL11A1, COL11A2, COL2A1, COL9A1 | dominant yoki retsessiv | | |
| Strudvik sindromi (spondiloepimetafiz displazi, Strudvik turi) | COL2A1 | dominant | | |
| Tay-Saks kasalligi | HEXA (15) | retsessiv | | |
| Tetrahidrobiopterin etishmovchiligi | GCH1, PCBD1, PTS, QDPR, MTHFR, DHFR | retsessiv | | |
| Tanatoforik displazi | FGFR3 | dominant | | |
| Xoin Kollinz sindromi | 5q32 – q33.1 (TCOF1, POLR1C, yoki POLR1D) | dominant | | |
| Naychali skleroz kompleksi (TSC) | TSC1, TSC2 | dominant | | |
| Tyorner sindromi | X | monosomiya | | 1: 2000-2500 tirik ayol tug'ilishi |
| Usher sindromi | MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1 | retsessiv | | |
| Variegate porfiriyasi | PPOX | dominant | | |
| fon Hippel-Lindau kasalligi | VHL | dominant |
| fon Willebrand kasalligi | VWF | dominant | |
| Vaardenburg sindromi | PAX3, MITF, WS2B, WS2C, SNAI2, EDNRB, EDN3, SOX10 | dominant | | |
| Vaysenbaxer-Tsveymler sindromi | COL11A2 | retsessiv | | |
| Uilyams sindromi | 7q11.23 | dominant | | 1:10,000 |
| Wilson kasalligi | ATP7B | retsessiv | | |
| Woodhouse-Sakati sindromi | C2ORF37 (2q22.3 – q35) | retsessiv | | |
| Wolf-Hirschhorn sindromi | 4p16.3 | dominant, ko'pincha de novo | | |
| Xeroderma pigmentozum | 15 ERCC4 | retsessiv | | |
| X bilan bog'liq bo'lgan intellektual nogironlik va makroorxidizm (mo'rt X sindromi) | X | | | |
| X bilan bog'langan o'murtqa-bulbar mushak atrofiyasi (orqa miya va bulbar mushak atrofiyasi) | X | | | |
| Xp11.2 nusxasi sindrom | Xp11.2 | D. | [17] | 1:1000000 |
| X bilan bog'liq bo'lgan og'ir kombinatsiyalangan immunitet tanqisligi (X-SCID) | X | | | |
| X bilan bog'langan sideroblastik anemiya (XLSA) | ALAS2 (X) | | | |
| 47, XXX (uch karra X sindromi) | X | C | | |
| XXXX sindromi (48, XXXX) | X | | | |
| XXXXX sindromi (49, XXXXX) | X | | | |
| XYY sindromi (47, XYY) | X | | | |
| Zellveger sindromi | PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26 | retsessiv | | |
