@prefix rdfs: . @prefix dbr: . dbr:List_of_genetic_disorders rdfs:label "\u0642\u0627\u0626\u0645\u0629 \u0627\u0644\u0627\u062E\u062A\u0644\u0627\u0644\u0627\u062A \u0627\u0644\u0648\u0631\u0627\u062B\u064A\u0629"@ar , "List of genetic disorders"@en , "Liste von Erbkrankheiten"@de , "Liste des maladies g\u00E9n\u00E9tiques \u00E0 g\u00E8ne identifi\u00E9"@fr , "\u0421\u043F\u0438\u0441\u043E\u043A \u0441\u043F\u0430\u0434\u043A\u043E\u0432\u0438\u0445 \u0445\u0432\u043E\u0440\u043E\u0431"@uk , "Lijst van erfelijke aandoeningen"@nl ; rdfs:comment "Er zijn heel veel (vele duizenden) erfelijke of gedeeltelijk erfelijke aandoeningen. Een aantal erfelijke aandoeningen die in de Wikipedia tot op heden behandeld worden zijn: \n* Craniosynostose \n* Astma \n* Anemie van Fanconi \n* Fenylketonurie (PKU) \n* Hemofilie \n* Hereditaire motorische en sensorische neuropathie\u00EBn (HMSN) \n* Katwijkse ziekte \n* Kleurenblindheid \n* Klompvoet \n* Medium chain acyl co-enzym-A dehydrogenase-defici\u00EBntie (MCAD) \n* Pontocerebellaire hypoplasie type 2 (PCH-2) \n* Sferocytose \n* Sikkelcelanemie \n* Spierdystrofie van Duchenne \n* Syndroom van Carpenter \n* Syndroom van Lesch-Nyhan \n* Syndroom van Gilbert \n* Taaislijmziekte \n* Thalassemie \n* Ziekte van Van Buchem \n* Ziekte van Duchenne \n* Ziekte van Huntington"@nl , "Ceci est la liste des maladies g\u00E9n\u00E9tiques auxquelles un g\u00E8ne ou plusieurs g\u00E8nes ont \u00E9t\u00E9 associ\u00E9s, soit que le g\u00E8ne ou sa mutation soit n\u00E9cessaire et responsable de la maladie, soit qu'il y ait statistiquement associ\u00E9 dans quelques cas, sans toutefois que le lien de causalit\u00E9 soit prouv\u00E9 ou n\u00E9cessaire. Par exemple, une mutation du g\u00E8ne NOD2 a \u00E9t\u00E9 associ\u00E9e dans 15 % des cas \u00E0 la maladie de Crohn, et son effet est suspect\u00E9, mais 70 autres g\u00E8nes y ont aussi \u00E9t\u00E9 associ\u00E9s ; sa pr\u00E9sence n'est donc pas n\u00E9cessaire pour que la maladie se d\u00E9clenche, et probablement non suffisante \u00E0 elle seule."@fr , "\u0627\u0644\u0627\u062E\u062A\u0644\u0627\u0644\u0627\u062A \u0627\u0644\u0648\u0631\u0627\u062B\u064A\u0629 \u0639\u0646\u062F \u0627\u0644\u0625\u0646\u0633\u0627\u0646 \u062A\u0642\u0633\u0645 \u0627\u0644\u0627\u062E\u062A\u0644\u0627\u0644\u0627\u062A \u0627\u0644\u0648\u0631\u0627\u062B\u064A\u0629 \u0639\u0646\u062F \u0627\u0644\u0625\u0646\u0633\u0627\u0646 \u0625\u0644\u0649 \u0642\u0633\u0645\u064A\u0646 \u0631\u0626\u064A\u0633\u064A\u064A\u0646 . \n* \u0627\u062E\u062A\u0644\u0627\u0644\u0627\u062A \u0645\u0631\u062A\u0628\u0637\u0629 \u0628\u0627\u0644\u0637\u0641\u0631\u0627\u062A \u0627\u0644\u0643\u0631\u0648\u0645\u0648\u0633\u0648\u0645\u064A\u0629\u060C \n* \u0627\u062E\u062A\u0644\u0627\u0644\u0627\u062A \u0645\u0631\u062A\u0628\u0637\u0629 \u0628\u0627\u0644\u0637\u0641\u0631\u0627\u062A \u0627\u0644\u062C\u064A\u0646\u064A\u0629."@ar , "\u041D\u0438\u0436\u0447\u0435 \u043D\u0430\u0432\u0435\u0434\u0435\u043D\u043E \u0441\u043F\u0438\u0441\u043E\u043A \u0441\u043F\u0430\u0434\u043A\u043E\u0432\u0438\u0445 \u0445\u0432\u043E\u0440\u043E\u0431, \u0442\u0430\u043A\u043E\u0436 \u0442\u0438\u043F \u043C\u0443\u0442\u0430\u0446\u0456\u0457, \u0449\u043E \u043C\u043E\u0436\u0443\u0442\u044C \u0431\u0443\u0442\u0438 \u043F\u043E\u0432\u2019\u044F\u0437\u0430\u043D\u0456 \u0437 \u0445\u0440\u043E\u043C\u043E\u0441\u043E\u043C\u0430\u043C\u0438."@uk , "The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance \"disease-causing gene\" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans."@en , "Diese Liste der Erbkrankheiten enth\u00E4lt einige der h\u00E4ufigsten Erbkrankheiten beim Menschen. Es wird unterschieden zwischen gutartigen Erkrankungen und Tumorerkrankungen."@de . @prefix foaf: . dbr:List_of_genetic_disorders foaf:depiction , , . @prefix dcterms: . @prefix dbc: . dbr:List_of_genetic_disorders dcterms:subject dbc:Lists_of_diseases , dbc:Medical_lists , dbc:Genetic_diseases_and_disorders , dbc:Genetics-related_lists . @prefix dbo: . dbr:List_of_genetic_disorders dbo:wikiPageID 59013 ; dbo:wikiPageRevisionID 1124012290 ; dbo:wikiPageWikiLink dbr:ABCA1 , dbr:ABCA12 , dbr:SADDAN , dbr:HTRA1 , dbr:DiGeorge_syndrome , , dbr:Viljoen-Kallis-Voges_syndrome , dbr:ATP7A , , dbr:HDAC8 , dbr:GLRX5 , dbr:Cowden_syndrome , dbr:FMR1 , dbr:AGXT , dbr:TTBK2 , dbr:MYLK , , dbr:MADH4_gene , , dbr:BTD , dbr:COL4A4 , dbr:TIA1 , , dbr:Familial_dysautonomia , dbr:COL4A5 , dbr:GUSB , dbr:LMNA , dbr:MYH7 , dbr:POLR1D , dbr:TATA_binding_protein , dbr:HEXB , , , , , dbr:CDKL5_Deficiency_Disorder , dbr:Rett_syndrome , dbr:COL1A2 , dbr:Fragile_X_syndrome , , , dbr:COL11A2 , dbr:Hemojuvelin , dbr:TMEM67 , dbr:FANCL , dbr:FANCM , dbr:Microcephaly , dbr:Proximal_18q- , , dbr:FANCE , dbr:TBX4 , dbr:FANCF , dbr:FANCG , dbr:ACVRL1 , dbr:Apolipoprotein_E , , dbr:Muscular_dystrophy , dbr:FANCI , dbr:FANCA , dbr:FANCB , dbr:ZIC3 , dbr:Transferrin_receptor_2 , dbr:FANCD2 , dbr:PTPN11 , dbr:Ferroportin , dbr:CHCHD10 , dbr:WS2B , dbr:FHL1 , dbr:Mutation , dbr:LAMB3 , dbr:PEX1 , , dbr:SOX10 , dbr:Alkaptonuria , dbr:CLCN5 , , dbr:Ostravik-Lindemann-Solberg_syndrome , dbr:LAMC2 , , , dbr:FG_syndrome , dbr:PKP1 , dbr:ZNF423 , dbr:LAMA3 , dbr:Hypochondroplasia , dbr:ABCD_syndrome , dbr:ATP2A1 , dbr:ATP2A2 , dbr:GRHPR , dbr:PPP2R2B , dbr:ABCC6 , dbr:WS2C , dbr:ABCD1 , dbr:RUNX2 , dbr:ATP1A3 , dbr:Myotonic_dystrophy , dbr:ABCB7 , dbr:CHARGE_syndrome , dbr:Tau_protein , dbr:Hypochondrogenesis , , dbr:ATP13A2 , dbr:ABCA4 , dbr:Tetrahydrobiopterin_deficiency , dbr:CREB-binding_protein , dbr:Morquio_syndrome , , dbr:Cystic_fibrosis , dbr:Cystic_fibrosis_transmembrane_conductance_regulator , dbr:Trinucleotide_repeat_disorder , dbr:SYNE1 , , dbr:AP4E1 , dbr:AP4S1 , dbr:TSC2 , dbr:TRPV4 , dbr:Hypoalphalipoproteinemia , dbr:Malignant_hyperthermia , dbr:COL5A2 , dbr:Absence_deformity_of_leg-cataract_syndrome , dbr:Peripheral_myelin_protein_22 , , dbr:SIGMAR1 , dbr:Mitf , dbr:GLDC , dbr:TCTN3 , dbr:Griscelli_syndrome , dbr:Keloid_disorder , dbr:Triple-A_syndrome , , dbr:ADULT_syndrome , dbr:Dihydrolipoamide_dehydrogenase , dbr:MSH2 , dbr:Cerebral_autosomal_recessive_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy , dbr:Spinal_muscular_atrophy , dbr:MSH6 , dbr:TP63 , , dbr:SOS1 , dbr:Wilson_disease , dbr:ATP2C1 , dbr:Distal_hereditary_motor_neuropathy , dbr:Fabry_disease , dbr:MYCN , dbr:RAB27A , dbr:CNGB3 , dbr:Notch_3 , dbr:RSPH9 , dbr:FTH1 , dbr:RPGRIP1L , dbr:Osteogenesis_imperfecta , dbr:Hunter_syndrome , , dbr:Limb-girdle_muscular_dystrophy , dbr:EDN3 , dbr:MED12 , dbr:FGD1 , dbr:Dystrophin , dbr:Roberts_syndrome , dbr:Down_syndrome , dbr:Currarino_syndrome , dbr:QDPR , dbr:VPS33B , dbr:Multiple_endocrine_neoplasia_type_2 , , dbr:Harlequin_type_ichthyosis , , dbr:Cornelia_de_Lange_syndrome , dbr:LOX , dbr:Ischiopatellar_dysplasia , dbr:PSEN1 , dbr:PLOD1 , , dbr:PEX10 , dbr:NAGLU , dbc:Lists_of_diseases , dbr:EXT1 , . @prefix ns6: . dbr:List_of_genetic_disorders dbo:wikiPageWikiLink ns6:oligodactyly_syndrome , , dbr:Alagille_syndrome , dbr:Micro_syndrome , dbr:PSEN2 , , dbr:Hyperlysinemia , dbr:PEX6 , dbr:STK11 , dbr:Jacobsen_syndrome , dbr:Glutaric_acidemia_type_2 , dbr:Triple_X_syndrome , dbr:Glutaric_aciduria_type_1 , dbr:PKD2 , dbr:Siderius_X-linked_mental_retardation_syndrome , dbr:Protein_S_deficiency , dbr:Benjamin_syndrome , dbr:Endothelin_B_receptor , dbr:LCAT_deficiency , , dbr:Human , dbr:SHOC2 , dbr:IGHMBP2 , dbr:Carpenter_syndrome , dbr:SNAI2 , , dbr:PEX16 , dbr:CNBP , dbr:TGM5 , dbr:POLR1C , dbr:RELN , dbr:Alexander_disease , dbr:Ectrodactyly-polydactyly_syndrome , dbr:RAB3GAP , , dbr:Aminolevulinic_acid_dehydratase_deficiency_porphyria , dbr:Aminomethyltransferase , , dbr:FERMT1 , , , dbr:Amelogenesis_imperfecta , dbr:Crouzonodermoskeletal_syndrome , dbr:Alternating_hemiplegia_of_childhood , dbr:Crouzon_syndrome , dbr:SCN10A , dbr:PLEC1 , , dbr:HPS5 , dbr:Joubert_syndrome , dbr:HPS6 , , dbr:RAD21 , dbr:TSC1 , dbr:HGSNAT , dbr:HPS1 , dbr:DHDPSL , dbr:HPS3 , dbr:HPS4 , dbr:RAG1 , dbr:MATR3 , dbr:HYAL1 , dbr:HEY2 , dbr:Congenital_muscular_dystrophy , dbr:Congenital_muscular_dystrophy-infantile_cataract-hypogonadism_syndrome , , dbr:Hemophilia , , dbr:Turner_syndrome , dbr:ARSB , dbr:Von_Willebrand_disease , dbr:Spondyloepiphyseal_dysplasia_congenita , dbr:Congenital_insensitivity_to_pain_with_anhidrosis , dbr:HEXA , dbr:Skin_fragility-woolly_hair-palmoplantar_keratoderma_syndrome , dbr:ATXN2 , dbr:Nonsyndromic_deafness , dbr:ERCC6 , , , dbr:DNAH5 , dbr:C14orf104 , dbr:ATXN8OS , dbr:GLB1 , dbr:DNAI1 , dbr:ETFDH , dbr:Split_hand_split_foot-nystagmus_syndrome , dbr:DNAI2 , dbr:ATXN10 , dbr:SMC1A , , dbr:CFC1 , dbr:Achondrogenesis_type_II , dbr:ETFA , dbr:ETFB , dbr:RNASEH2B , , dbr:Tuberous_sclerosis , dbr:Patau_syndrome , dbr:SCN11A , dbr:MYOT , dbr:Sly_syndrome , dbr:PITX2 , , dbr:PRNP , , , dbr:MMACHC , dbr:X-linked_severe_combined_immunodeficiency , dbr:EXPH5 , dbr:Pseudo-Gaucher_disease , , dbr:Pantothenate_kinase-associated_neurodegeneration , dbr:Gene , dbr:Duchenne_muscular_dystrophy , dbr:Aortic_arch_anomaly_-_peculiar_facies_-_intellectual_disability , , dbr:AHI1 , dbr:Pipecolic_acidemia , dbr:Cranio-lenticulo-sutural_dysplasia , , dbr:LRRC50 , , dbr:Waardenburg_syndrome , dbr:Zellweger_syndrome , dbr:CHD7 , , , dbr:ATXN3 , dbr:TXNDC3 , dbr:ATXN7 , dbr:Cat_eye_syndrome , dbr:Color_blindness , dbr:Hepcidin , dbr:Feingold_syndrome , , dbr:Infantile_cerebral_and_cerebellar_atrophy_with_postnatal_progressive_microcephaly , dbr:COL11A1 , dbr:Protein_C , dbr:NPC2 , , dbr:PHF8 , dbr:Isodicentric_15 , dbr:GDF5 , dbr:TMEM138 , dbr:NPHP1 , dbr:XXXY_syndrome , dbr:Cohen_syndrome , dbr:NPC1 , , dbr:REEP1 , dbr:Thanatophoric_dysplasia , dbr:Axenfeld_syndrome , , dbr:Angel-shaped_phalango-epiphyseal_dysplasia , dbr:FBN1 , dbr:PEX26 , dbr:AP3B1 , dbr:HNRPA2B1 , , dbr:Muenke_syndrome , dbr:DNAH11 , dbr:ITGA3 , dbr:ITGA4 , dbr:COH1 , dbr:Retinitis_pigmentosa , , dbr:AP1S1 , dbr:ACTB , dbr:MLPH , dbr:SLC25A38 , dbr:Chromosome_abnormality , dbr:KCND3 , dbr:Amish_lethal_microcephaly , dbr:CEP290 , dbr:PKD1 , dbr:PCBD1 , dbr:ATP7B , dbr:Progeria , dbr:SESN1 , dbr:PMS1 , dbr:Epidermolysis_bullosa , dbr:MTHFR , dbr:Edwards_syndrome , dbr:FOXC1 , dbr:FLCN , dbr:GCDH , dbr:Phelan-McDermid_syndrome , dbr:FGF14 , dbr:McLeod_syndrome , dbr:Pyruvate_carboxylase_deficiency , dbr:RYR1 , dbr:ALAS2 , dbr:TCOF1 , dbr:ALAD , , dbr:Fine-Lubinsky_syndrome , dbr:Gustavson_syndrome , dbr:COL7A1 , dbr:COL9A1 , dbr:RNASEH2A , dbr:COL3A1 , , dbr:COL4A3 , dbr:Incontinentia_pigmenti , dbr:COL5A1 , dbr:KRAS , , dbr:COL2A1 , , dbr:Titin , dbr:IKBKAP , dbr:Brunner_syndrome , dbr:IKBKG , dbr:KCNC3 , dbr:ACSF3 , dbr:COL17A1 , dbr:Chronic_granulomatous_disorder , dbr:Acute_intermittent_porphyria , dbr:PEX12 , dbr:COL1A1 , dbr:APC_gene , dbr:AASDHPPT , , dbr:Fatal_insomnia , dbr:LYST , dbr:MFAP5 , dbr:Multiple_endocrine_neoplasia_type_1 , dbr:CADASIL_syndrome , dbr:Hyaluronidase_deficiency , dbr:Protein_C_deficiency , dbr:Omenn_syndrome , dbr:AP4B1 , dbr:AP4M1 , dbr:Alpha_1-antitrypsin_deficiency , dbr:SYNE2 , dbr:Erythropoietic_protoporphyria , dbr:G6PD_deficiency , dbr:Adrenoleukodystrophy , , dbr:Methemoglobinemia , dbr:PEX2 , dbr:Dravet_syndrome , , dbr:Dolichonychia , dbr:Frontotemporal_dementia , , , dbr:FBXW7_neurodevelopmental_syndrome , dbr:Biotinidase_deficiency , dbr:Monosomy_9p , , dbr:Marfan_syndrome , dbr:Primary_ciliary_dyskinesia , , dbr:Juvenile-onset_dystonia , dbr:ALS2 , , , dbr:ARMC9 , dbr:Sjogren-Larsson_syndrome , dbr:HNRNPA1 , dbr:SLC4A11 , dbr:Heterotaxy , dbr:ALDH3A2 , dbr:PEX3 , dbr:SNAP29 , , dbr:TCF4 , dbr:OCRL , dbr:IMPDH2 , , dbr:Chromosome_4 , dbr:ITGA6 , dbr:Sanfilippo_syndrome , dbr:SAMHD1 , dbr:Chromosome_16 , dbr:De_Grouchy_syndrome , dbr:Chromosome , dbr:PAX3 , dbr:FOXO1 , dbr:Notch_2 , dbr:PAX6 , dbr:MLH3 , dbr:LMBR1 , dbr:Achondroplasia , dbr:Nonketotic_hyperglycinemia , dbr:Cleidocranial_dysostosis , dbr:Hepatoerythropoietic_porphyria , dbr:Genetic_disorder , dbr:Apert_syndrome , , dbr:OFD1 , , dbr:Dysferlin , dbr:Point_mutation , , dbr:Pendred_syndrome , dbr:HSPB8 , dbr:Factor_V_Leiden_thrombophilia , , dbr:MAP2K1 , dbr:LMBRD1 , dbr:Trisomy_8 , dbr:Spinocerebellar_ataxia , , , dbr:MAP2K2 , dbr:Cleft_palate_short_stature_vertebral_anomalies_syndrome , dbr:Sickle_cell_disease , , , dbr:HSPB3 , , dbr:Spinal_and_bulbar_muscular_atrophy , dbr:Juvenile_primary_lateral_sclerosis , dbr:SLC5A7 , dbr:GNS_gene , dbr:Galactosemia , dbr:ZEB2 , dbr:Klinefelter_syndrome , dbr:Northern_Europe , dbc:Medical_lists , dbr:GRACILE_syndrome , dbr:RAG2 , , dbr:Pseudoxanthoma_elasticum , dbr:Adenylosuccinate_lyase_deficiency , dbr:PMS2 , dbr:Thickened_earlobes-conductive_deafness_syndrome , dbr:Kleefstra_syndrome , dbr:PEX5 , dbr:PPOX , dbr:Emanuel_syndrome , dbr:SMAD4 , , , , dbr:SMAD2 , dbr:PEX14 , dbr:ASXL3 , dbr:SMAD3 , dbr:Lynch_syndrome , , dbr:HRAS , dbc:Genetic_diseases_and_disorders , , dbr:NIPBL , dbr:Myostatin-related_muscle_hypertrophy , dbr:BRCA1 , dbr:SMA3 , dbr:MSTN , , dbr:Gillespie_syndrome , , , , dbr:Menkes_disease , dbr:Amyotrophic_lateral_sclerosis , dbr:Krabbe_disease , dbr:NODAL , dbr:GRIN2B , dbr:GRIN2B-related_neurodevelopmental_disorder , dbr:Autosomal_dominant , dbr:RAD51C , dbr:CACNA1A , dbr:Hereditary_spastic_paraplegia , dbr:Xeroderma_pigmentosum , dbr:Familial_adenomatous_polyposis , dbr:Hereditary_haemochromatosis , dbr:Hereditary_hemorrhagic_telangiectasia , , dbr:Gene_duplication , dbr:Homocystinuria , dbr:Familial_hypercholesterolemia , dbr:SOD1 , dbr:Amyloid_precursor_protein , dbr:Hereditary_multiple_exostoses , dbr:MLH1 , dbr:TRPA1 , dbr:Hprt , dbr:Pfeiffer_syndrome , dbr:Combined_malonic_and_methylmalonic_aciduria , dbr:ALMS1 , dbr:FXN , dbr:Alport_syndrome , dbr:ITPR1 , dbr:Angelman_syndrome , dbr:HSPG2 , dbr:Camptodactyly-taurinuria_syndrome , dbr:IFITM5 , dbr:Juvenile_hemochromatosis , dbr:TGFB2 , dbr:TGFB3 , dbr:TGFBR1 , , dbr:TGFBR2 , dbr:UBE3A , dbr:PMP22 , dbr:MMAA , dbr:Northern_America , dbr:MMAB , dbr:Neurofibromatosis , dbr:Blepharophimosis_intellectual_disability_syndromes , dbr:Neurofibromatosis_type_I , dbr:Neurofibromatosis_type_II , dbr:MAOA , , , , dbr:WT1 , dbr:Fanconi_anemia , dbr:MED17 , , , dbr:Kniest_dysplasia , dbr:IFIH1 , dbr:C9orf72 , dbr:PROM1 , dbr:SMPD1 , dbr:MEN1 , , , dbc:Genetics-related_lists , dbr:MEFV , , dbr:Aphalangy-syndactyly-microcephaly_syndrome , dbr:KCNQ1OT1 , dbr:Treacher_Collins_syndrome , dbr:MEDNIK_syndrome , dbr:Campomelic_dysplasia , dbr:Noonan_syndrome , dbr:TMEM43 , dbr:PDGFRB , dbr:Cri_du_chat , dbr:Acheiropodia , dbr:Ataxia_telangiectasia , dbr:Canavan_disease , dbr:Androgen_insensitivity_syndrome , , dbr:HPS7 , dbr:FBXW7 , dbr:MFN2 , dbr:RNASEH2C , dbr:GALNS , dbr:MMADHC , dbr:Stargardt_disease , , , dbr:Factor_VIII , dbr:GALK1 , dbr:Huntingtin , dbr:MLYCD , dbr:DHFR , , dbr:GALC , dbr:GALE , dbr:TARDBP , dbr:Variegate_porphyria , , dbr:RPS6KA3 , , dbr:Bloom_syndrome , dbr:Porphyria , dbr:ESCO2 , dbr:PRKCG , dbr:Gaucher_disease , dbr:X-linked_sideroblastic_anemia , , dbr:HLXB9 , dbr:CC2D2A , dbr:PEX13 , dbr:CDKN1C , dbr:Haemochromatosis_type_3 , dbr:Iron_overload , dbr:RAF1 , dbr:PROS1 , dbr:TP53 , dbr:PRICKLE1 , dbr:MYO5A , dbr:Sickle_cell_anemia , dbr:C2ORF37 , , dbr:ADAMTS2 , dbr:RSPH4A , dbr:JAG1 , dbr:PRICKLE1-related_progressive_myoclonus_epilepsy_with_ataxia , dbr:SGSH , dbr:DHCR7 , dbr:MYH11 , dbr:MYH2 , dbr:DCTN1 , dbr:Sideroblastic_anemia , dbr:PRKG1 , dbr:Aceruloplasminemia , dbr:Kosaki_overgrowth_syndrome , dbr:Ataxin_1 , , dbr:CCDC11 , dbr:Col2A1 , , dbr:MAT2A , dbr:Hyperphenylalaninemia , dbr:B4GALT7 , , dbr:Miller-Dieker_syndrome , , dbr:Sandhoff_disease , dbr:BCS1L , dbr:Methylmalonic_acidemia , , dbr:RAB23 , dbr:MECP2 , , dbr:IGF-2 , dbr:EDNRB , dbr:Familial_thoracic_aortic_aneurysm_and_aortic_dissection , dbr:Stickler_syndrome , dbr:BCKDHB , dbr:INPP5E , , dbr:Williams_syndrome , , dbr:FGFR1 , dbr:FGFR2 , dbr:FGFR3 , dbr:BCKDHA , dbr:Cri_du_chat_syndrome , dbr:CDKL5 , dbr:Albinism_in_humans , , dbr:Familial_episodic_pain_syndrome , dbr:SCN1A , dbr:SCN2A , dbr:Primary_pulmonary_hypertension , dbr:UROD , dbr:Distal_muscular_dystrophy , , dbr:GTP_cyclohydrolase_I , dbr:Hereditary_neuropathy_with_liability_to_pressure_palsies , dbr:ERCC4 , dbr:Fibroblast_growth_factor_receptor_3 , dbr:FANCN , dbr:FANCP , , dbr:ARL13B , dbr:TREX1 , dbr:Phenylketonuria , dbr:FANCC , dbr:FANCD1 , , dbr:FANCJ , dbr:Maple_syrup_urine_disease , dbr:Polycystic_kidney_disease , dbr:Polycystic_ovary_syndrome , , , dbr:Von_Willebrand_factor , dbr:ADAR , dbr:Hemochromatosis_type_4 , dbr:Hurler_syndrome , dbr:Cockayne_syndrome , , dbr:Autosomal_co-dominant , dbr:Corneal_dystrophy-perceptive_deafness_syndrome , dbr:NTRK1 , dbr:Chromosome_5q_deletion_syndrome , dbr:Autosomal-recessive_disease , , dbr:KRT5 , , dbr:FOXE3 , dbr:Porphyria_cutanea_tarda , dbr:SLC25A19 , dbr:KRT14 , dbr:SPTBN2 , dbr:Fibular_aplasia-ectrodactyly_syndrome , , dbr:ELOVL4 , dbr:Brody_myopathy , dbr:TNXB , dbr:PLEKHG4 , dbr:GCSH , dbr:Ogden_Syndrome , dbr:Usher_syndrome , , dbr:PEX19 , dbr:Hereditary_coproporphyria , , , dbr:Hereditary_inclusion_body_myopathy , dbr:TMEM216 , dbr:ACTA2 , , ; dbo:wikiPageExternalLink , . @prefix ns7: . dbr:List_of_genetic_disorders dbo:wikiPageExternalLink ns7:sjogren-larsson-syndrome , . @prefix ns8: . dbr:List_of_genetic_disorders dbo:wikiPageExternalLink ns8:sjogren-larssonssyndrom , , . @prefix owl: . dbr:List_of_genetic_disorders owl:sameAs , , , . @prefix dbpedia-de: . dbr:List_of_genetic_disorders owl:sameAs dbpedia-de:Liste_von_Erbkrankheiten . @prefix dbpedia-nl: . dbr:List_of_genetic_disorders owl:sameAs dbpedia-nl:Lijst_van_erfelijke_aandoeningen , , , , . @prefix wikidata: . dbr:List_of_genetic_disorders owl:sameAs wikidata:Q665092 . @prefix dbpedia-simple: . dbr:List_of_genetic_disorders owl:sameAs dbpedia-simple:List_of_genetic_disorders . @prefix dbp: . @prefix dbt: . dbr:List_of_genetic_disorders dbp:wikiPageUsesTemplate dbt:Cite_web , dbt:Short_description , dbt:Medicine , , dbt:Reflist ; dbo:thumbnail ; dbo:abstract "The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance \"disease-causing gene\" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans."@en , "\u0627\u0644\u0627\u062E\u062A\u0644\u0627\u0644\u0627\u062A \u0627\u0644\u0648\u0631\u0627\u062B\u064A\u0629 \u0639\u0646\u062F \u0627\u0644\u0625\u0646\u0633\u0627\u0646 \u062A\u0642\u0633\u0645 \u0627\u0644\u0627\u062E\u062A\u0644\u0627\u0644\u0627\u062A \u0627\u0644\u0648\u0631\u0627\u062B\u064A\u0629 \u0639\u0646\u062F \u0627\u0644\u0625\u0646\u0633\u0627\u0646 \u0625\u0644\u0649 \u0642\u0633\u0645\u064A\u0646 \u0631\u0626\u064A\u0633\u064A\u064A\u0646 . \n* \u0627\u062E\u062A\u0644\u0627\u0644\u0627\u062A \u0645\u0631\u062A\u0628\u0637\u0629 \u0628\u0627\u0644\u0637\u0641\u0631\u0627\u062A \u0627\u0644\u0643\u0631\u0648\u0645\u0648\u0633\u0648\u0645\u064A\u0629\u060C \n* \u0627\u062E\u062A\u0644\u0627\u0644\u0627\u062A \u0645\u0631\u062A\u0628\u0637\u0629 \u0628\u0627\u0644\u0637\u0641\u0631\u0627\u062A \u0627\u0644\u062C\u064A\u0646\u064A\u0629."@ar , "Ceci est la liste des maladies g\u00E9n\u00E9tiques auxquelles un g\u00E8ne ou plusieurs g\u00E8nes ont \u00E9t\u00E9 associ\u00E9s, soit que le g\u00E8ne ou sa mutation soit n\u00E9cessaire et responsable de la maladie, soit qu'il y ait statistiquement associ\u00E9 dans quelques cas, sans toutefois que le lien de causalit\u00E9 soit prouv\u00E9 ou n\u00E9cessaire. Par exemple, une mutation du g\u00E8ne NOD2 a \u00E9t\u00E9 associ\u00E9e dans 15 % des cas \u00E0 la maladie de Crohn, et son effet est suspect\u00E9, mais 70 autres g\u00E8nes y ont aussi \u00E9t\u00E9 associ\u00E9s ; sa pr\u00E9sence n'est donc pas n\u00E9cessaire pour que la maladie se d\u00E9clenche, et probablement non suffisante \u00E0 elle seule. Les maladies g\u00E9n\u00E9tiques cit\u00E9es ici sont les maladies g\u00E9n\u00E9tiques dont le g\u00E8ne est connu (Symbole + de MIM) ou dont le g\u00E8ne et la base mol\u00E9culaire sont connus (Symbole # de MIM).L'information est r\u00E9partie de la fa\u00E7on suivante : \n* Nom de la maladie (Le nom fran\u00E7ais est celui utilis\u00E9 par Orphanet) \n* Code MIM (Afin d'\u00E9viter les confusions) \n* Mode transmission \n* Chromosome en cause \n* G\u00E8ne en cause \n* Type de mutation"@fr , "Er zijn heel veel (vele duizenden) erfelijke of gedeeltelijk erfelijke aandoeningen. Een aantal erfelijke aandoeningen die in de Wikipedia tot op heden behandeld worden zijn: \n* Craniosynostose \n* Astma \n* Anemie van Fanconi \n* Fenylketonurie (PKU) \n* Hemofilie \n* Hereditaire motorische en sensorische neuropathie\u00EBn (HMSN) \n* Katwijkse ziekte \n* Kleurenblindheid \n* Klompvoet \n* Medium chain acyl co-enzym-A dehydrogenase-defici\u00EBntie (MCAD) \n* Pontocerebellaire hypoplasie type 2 (PCH-2) \n* Sferocytose \n* Sikkelcelanemie \n* Spierdystrofie van Duchenne \n* Syndroom van Carpenter \n* Syndroom van Lesch-Nyhan \n* Syndroom van Gilbert \n* Taaislijmziekte \n* Thalassemie \n* Ziekte van Van Buchem \n* Ziekte van Duchenne \n* Ziekte van Huntington NB. Deze lijst is niet volledig. Zoek op de naam van de ziekte of in Categorie:Genetische aandoening om te kijken of er een artikel over bestaat op Wikipedia."@nl , "Diese Liste der Erbkrankheiten enth\u00E4lt einige der h\u00E4ufigsten Erbkrankheiten beim Menschen. Es wird unterschieden zwischen gutartigen Erkrankungen und Tumorerkrankungen."@de , "\u041D\u0438\u0436\u0447\u0435 \u043D\u0430\u0432\u0435\u0434\u0435\u043D\u043E \u0441\u043F\u0438\u0441\u043E\u043A \u0441\u043F\u0430\u0434\u043A\u043E\u0432\u0438\u0445 \u0445\u0432\u043E\u0440\u043E\u0431, \u0442\u0430\u043A\u043E\u0436 \u0442\u0438\u043F \u043C\u0443\u0442\u0430\u0446\u0456\u0457, \u0449\u043E \u043C\u043E\u0436\u0443\u0442\u044C \u0431\u0443\u0442\u0438 \u043F\u043E\u0432\u2019\u044F\u0437\u0430\u043D\u0456 \u0437 \u0445\u0440\u043E\u043C\u043E\u0441\u043E\u043C\u0430\u043C\u0438."@uk . @prefix gold: . dbr:List_of_genetic_disorders gold:hypernym dbr:List . @prefix prov: . dbr:List_of_genetic_disorders prov:wasDerivedFrom . @prefix xsd: . dbr:List_of_genetic_disorders dbo:wikiPageLength "42812"^^xsd:nonNegativeInteger . @prefix wikipedia-en: . dbr:List_of_genetic_disorders foaf:isPrimaryTopicOf wikipedia-en:List_of_genetic_disorders .