Download Excel File List of Genetic Disorders

"P -Point mutation, or any insertion/deletion entirely inside one gene",,,D -Deletion of a gene or genes,,,"C - Whole chromosome extra, missing, or both (see chromosomal aberrations)",,,T -Trinucleotide repeat disorders: gene is extended in length,,,,,,,,,,,,common disorders,,,,,,SNo,Disorder,Mutation,Chromosome1,22q11.2 deletion syndrome,D,22q2,Angelman syndrome,DCP,153,Canavan disease,,17p4,CharcotMarieTooth disease,,5,Color blindness,P,X6,Cri du chat,D,57,Cystic fibrosis,P,7q8,Down syndrome,C,219,Duchenne muscular dystrophy,D,Xp10,Haemochromatosis,P,611,Haemophilia,P,X12,Klinefelter syndrome,C,X13,Neurofibromatosis,,17q/22q/?14,Phenylketonuria,P,12q15,Polycystic kidney disease,P,16 (PKD1) or 4 (PKD2)16,PraderWilli syndrome,DC,1517,Sickle-cell disease,P,11p18,TaySachs disease,P,1519,Turner syndrome,C,X,,,Full list,,,,,,SNo,Disorder name,Mutation type,Chromosome1,1p36 deletion syndrome,D,1p362,18p deletion syndrome,D,18p3,21-hydroxylase deficiency,,6p21.34,"45,X",C,X,Turner syndrome,,5,"47,XX,+21",C,21,Down syndrome,,6,"47,XXX",C,X,triple X syndrome,,7,"47,XXY",C,X,Klinefelter syndrome,,8,"47,XY,+21",C,21,Down syndrome,,9,"47,XYY syndrome",C,Y10,5-ALA dehydratase-deficient porphyria,,,ALA dehydratase deficiency,,11,5-aminolaevulinic dehydratase deficiency porphyria,,,ALA dehydratase deficiency,,12,5p deletion syndrome,D,5p,Cri du chat,,13,5p- syndrome,D,5p,Cri du chat,,14,A-T,,,ataxia telangiectasia,,15,AAT,,,alpha 1-antitrypsin deficiency,,16,Absence of vas deferens,,,congenital absence of the vas deferens,,17,Absent vasa,,,congenital absence of the vas deferens,,18,aceruloplasminemia,,19,ACG2,,,achondrogenesis type II,,20,ACH,,,achondroplasia,,21,Achondrogenesis type II,,22,achondroplasia,substitution,4p16.323,Acid beta-glucosidase deficiency,,,Gaucher disease type 1,,24,Acrocephalosyndactyly (Apert),,,Apert syndrome,,25,"acrocephalosyndactyly, type V",,,Pfeiffer syndrome,,26,Acrocephaly,,,Apert syndrome,,27,Acute cerebral Gaucher's disease,,,Gaucher disease type 2,,28,acute intermittent porphyria,,29,ACY2 deficiency,,,Canavan disease,,30,AD,,,Alzheimer's disease,,31,Adelaide-type craniosynostosis,,,Muenke syndrome,,32,Adenomatous Polyposis Coli,,,familial adenomatous polyposis,,33,Adenomatous Polyposis of the Colon,,,familial adenomatous polyposis,,34,ADP,,,ALA dehydratase deficiency,,35,adenylosuccinate lyase deficiency,,36,Adrenal gland disorders,,,21-hydroxylase deficiency,,37,Adrenogenital syndrome,,,21-hydroxylase deficiency,,38,Adrenoleukodystrophy,,39,AIP,,,acute intermittent porphyria,,40,AIS,,,androgen insensitivity syndrome,,41,AKU,,,alkaptonuria,,42,ALA dehydratase porphyria,,,ALA dehydratase deficiency,,43,ALA-D porphyria,,,ALA dehydratase deficiency,,44,ALA dehydratase deficiency,,45,Albinism,,46,Alcaptonuria,,,alkaptonuria,,47,Alexander disease,,48,alkaptonuria,,49,Alkaptonuric ochronosis,,,alkaptonuria,,50,alpha 1-antitrypsin deficiency,,51,alpha-1 proteinase inhibitor,,14q32.1,alpha 1-antitrypsin deficiency,,52,alpha-1 related emphysema,,14q32.1,alpha 1-antitrypsin deficiency,,53,Alpha-galactosidase A deficiency,P,Xq22.1,Fabry disease,,54,ALS,,,amyotrophic lateral sclerosis,,55,Alstrm syndrome,,56,ALX,,,Alexander disease,,57,Alzheimer's disease,,58,Amelogenesis imperfecta,,59,Amino levulinic acid dehydratase deficiency,,,ALA dehydratase deficiency,,60,Aminoacylase 2 deficiency,,,Canavan disease,,61,amyotrophic lateral sclerosis,,62,Anderson-Fabry disease,P,Xq22.1,Fabry disease,,63,androgen insensitivity syndrome,,64,Anemia,,65,"Anemia, hereditary sideroblastic",,X,X-linked sideroblastic anemia,,66,"Anemia, sex-linked hypochromic sideroblastic",,X,X-linked sideroblastic anemia,,67,"Anemia, splenic, familial",,,Gaucher disease,,68,Angelman syndrome,,69,Angiokeratoma Corporis Diffusum,P,Xq22.1,Fabry disease,,70,Angiokeratoma diffuse,,,Fabry disease,,71,Angiomatosis retinae,,,von HippelLindau disease,,72,ANH1,,X,X-linked sideroblastic anemia,,73,"APC resistance, Leiden type",,,factor V Leiden thrombophilia,,74,Apert syndrome,,75,AR deficiency,,,androgen insensitivity syndrome,,76,AR-CMT2,,,"Charcot-Marie-Tooth disease, type 2",,77,Arachnodactyly,,,Marfan syndrome,,78,ARNSHL,,,Nonsyndromic deafness#autosomal recessive,,79,"Arthro-ophthalmopathy, hereditary progressive",,,Stickler syndrome#COL2A1,,80,Arthrochalasis multiplex congenita,,,EhlersDanlos syndrome#arthrochalasia type,,81,AS,,,Angelman syndrome,,82,Asp deficiency,,,Canavan disease,,83,Aspa deficiency,,,Canavan disease,,84,Aspartoacylase deficiency,,,Canavan disease,,85,ataxia telangiectasia,,86,Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome,,,Rett syndrome,,87,autosomal dominant juvenile ALS,,,"amyotrophic lateral sclerosis, type 4",,88,Autosomal dominant opitz G/BBB syndrome,D,22q,22q11.2 deletion syndrome,,89,autosomal recessive form of juvenile ALS type 3,,,Amyotrophic lateral sclerosis#type 2,,90,Autosomal recessive nonsyndromic hearing loss,,,Nonsyndromic deafness#autosomal recessive,,91,Autosomal Recessive Sensorineural Hearing Impairment and Goiter,,,Pendred syndrome,,92,AxD,,,Alexander disease,,93,Ayerza syndrome,,,primary pulmonary hypertension,,94,B variant of the Hexosaminidase GM2 gangliosidosis,,,Sandhoff disease,,95,BANF,,,neurofibromatosis type II,,96,Beare-Stevenson cutis gyrata syndrome,,10q2697,Benign paroxysmal peritonitis,,,"Mediterranean fever, familial",,98,Benjamin syndrome,,99,beta-thalassemia,,100,BH4 Deficiency,,,tetrahydrobiopterin deficiency,,101,Bilateral Acoustic Neurofibromatosis,,,neurofibromatosis type II,,102,biotinidase deficiency,,103,bladder cancer,,104,Bleeding disorders,,,factor V Leiden thrombophilia,,105,Bloch-Sulzberger syndrome,,,incontinentia pigmenti,,106,Bloom syndrome,,15q26.1107,Bone diseases,,108,Bone marrow diseases,,,X-linked sideroblastic anemia,,109,Bonnevie-Ullrich syndrome,,,Turner syndrome,,110,Bourneville disease,,,tuberous sclerosis,,111,Bourneville phakomatosis,,,tuberous sclerosis,,112,Brain diseases,,,prion disease,,113,breast cancer,,114,BirtHoggDub syndrome,,17115,Brittle bone disease,,,osteogenesis imperfecta,,116,Broad Thumb-Hallux syndrome,,,Rubinstein-Taybi syndrome,,117,Bronze Diabetes,,,hemochromatosis,,118,Bronzed cirrhosis,,,hemochromatosis,,119,"Bulbospinal muscular atrophy, X-linked",,,Kennedy's disease,,120,Burger-Grutz syndrome,,,"lipoprotein lipase deficiency, familial",,121,CADASIL syndrome,P,3122,CGD Chronic granulomatous disorder,,123,Campomelic dysplasia,C,17q24.3-q25.1124,Canavan disease,,125,Cancer,,126,Cancer Family syndrome,,,hereditary nonpolyposis colorectal cancer,,127,Cancer of breast,,,breast cancer,,128,Cancer of the bladder,,,bladder cancer,,129,"Carboxylase Deficiency, Multiple, Late-Onset",P,3,biotinidase deficiency,,130,Cardiomyopathy,,,Noonan syndrome,,131,Cat cry syndrome,,,Cri du chat,,132,CAVD,,,congenital absence of the vas deferens,,133,Caylor cardiofacial syndrome,D,22q,22q11.2 deletion syndrome,,134,CBAVD,,,congenital absence of the vas deferens,,135,CEP,,,congenital erythropoietic porphyria,,136,Ceramide trihexosidase deficiency,,X,Fabry disease,,137,"Cerebelloretinal Angiomatosis, familial",P,3 (p26-p25),von Hippel-Lindau disease,,138,Cerebral arteriopathy,P,3,with subcortical infarcts and leukoencephalopathy,,,CADASIL syndrome,,139,Cerebral autosomal dominant ateriopathy,P,3,with subcortical infarcts and leukoencephalopathy,,,CADASIL syndrome,,140,Cerebral sclerosis,,"9 (q34), 16 (p13.3)",tuberous sclerosis,,141,Cerebroatrophic Hyperammonemia,,X,Rett syndrome,,142,Cerebroside Lipidosis syndrome,P,1(q21),Gaucher disease,,143,CF,D (most common);,CFTR (7q31.2),cystic fibrosis,or substitution,144,CH,,,congenital hypothyroidism,,145,Charcot disease,,,amyotrophic lateral sclerosis,,146,Charcot-Marie-Tooth disease,,147,Chondrodystrophia,,,achondroplasia,,148,Chondrodystrophy syndrome,,,achondroplasia,,149,Chondrodystrophy with sensorineural deafness,,,otospondylomegaepiphyseal dysplasia,,150,Chondrogenesis imperfecta,,,"achondrogenesis, type II",,151,Choreoathetosis self-mutilation hyperuricemia syndrome,P,X,Lesch-Nyhan syndrome,,152,Classic Galactosemia,P,9 (p13),galactosemia,,153,Classical EhlersDanlos syndrome,,,EhlersDanlos syndrome#classical type,,154,Classical Phenylketonuria,,,phenylketonuria,,155,Cleft lip and palate,,,Stickler syndrome,,156,Cloverleaf skull with thanatophoric dwarfism,,,Thanatophoric dysplasia#type 2,,157,CLS,,,Coffin-Lowry syndrome,,158,CMT,,,Charcot-Marie-Tooth disease,,159,Cockayne syndrome,,160,Coffin-Lowry syndrome,,161,"collagenopathy, types II and XI",,162,"Colon Cancer, familial Nonpolyposis",,,hereditary nonpolyposis colorectal cancer,,163,"Colon cancer, familial",,,familial adenomatous polyposis,,164,Colorectal cancer,,165,Complete HPRT deficiency,,,Lesch-Nyhan syndrome,,166,Complete hypoxanthine-guanine phosphoribosyltransferase deficiency,,,Lesch-Nyhan syndrome,,167,Compression neuropathy,,,hereditary neuropathy with liability to pressure palsies,,168,Congenital adrenal hyperplasia,,,21-hydroxylase deficiency,,169,congenital bilateral absence of vas deferens,,,Congenital absence of the vas deferens,,170,Congenital erythropoietic porphyria,,171,Congenital heart disease,,172,Congenital hypomyelination,,,Charcot-Marie-Tooth disease#Type 1,,,Charcot-Marie-Tooth disease#Type 4,,173,Congenital hypothyroidism,,174,Congenital methemoglobinemia,,,Methemoglobinemia#Congenital methaemoglobinaemia,,175,Congenital osteosclerosis,,,achondroplasia,,176,Congenital sideroblastic anaemia,,X,X-linked sideroblastic anemia,,177,Connective tissue disease,,178,Conotruncal anomaly face syndrome,D,22q,22q11.2 deletion syndrome,,179,Cooley's Anemia,,,beta-thalassemia,,180,Copper storage disease,,13 (q14.3),Wilson's disease,,181,Copper transport disease,,,Menkes disease,,182,"Coproporphyria, hereditary",,,hereditary coproporphyria,,183,Coproporphyrinogen oxidase deficiency,,,hereditary coproporphyria,,184,Cowden syndrome,,185,CPO deficiency,,,hereditary coproporphyria,,186,CPRO deficiency,,,hereditary coproporphyria,,187,CPX deficiency,,,hereditary coproporphyria,,188,Craniofacial dysarthrosis,,,Crouzon syndrome,,189,Craniofacial Dysostosis,,,Crouzon syndrome,,190,Cretinism,,,congenital hypothyroidism,,191,Creutzfeldt-Jakob disease,,,prion disease,,192,Cri du chat,D,5p193,"Crohn's disease, fibrostenosing",P,16q12194,Crouzon syndrome,,FGFR2 (10q25.3-q26)195,Crouzon syndrome with acanthosis nigricans,,,Crouzonodermoskeletal syndrome,,196,Crouzonodermoskeletal syndrome,,197,CS,,,Cockayne syndrome,,,Cowden syndrome,,198,Curschmann-Batten-Steinert syndrome,,,myotonic dystrophy,,199,cutis gyrata syndrome of Beare-Stevenson,,,Beare-Stevenson cutis gyrata syndrome,,200,D-glycerate dehydrogenase deficiency,,,"hyperoxaluria, primary",,201,Dappled metaphysis syndrome,,,"spondyloepimetaphyseal dysplasia, Strudwick type",,202,DAT - Dementia Alzheimer's type,,,Alzheimer's disease,,203,Genetic hypercalciuria,,Xp11.22,Dent's disease,,204,DBMD,,,"muscular dystrophy, Duchenne and Becker types",,205,Deafness with goiter,,,Pendred syndrome,,206,Deafness-retinitis pigmentosa syndrome,,,Usher syndrome,,207,"Deficiency disease, Phenylalanine Hydroxylase",P,12q,phenylketonuria,,208,Degenerative nerve diseases,,209,de Grouchy syndrome 1,D,18p,De Grouchy syndrome,,210,Dejerine-Sottas syndrome,,,Charcot-Marie-Tooth disease,,211,Delta-aminolevulinate dehydratase deficiency porphyria,,,ALA dehydratase deficiency,,212,Dementia,,,CADASIL syndrome,,213,demyelinogenic leukodystrophy,,,Alexander disease,,214,Dermatosparactic type of EhlersDanlos syndrome,,,EhlersDanlos syndrome#dermatosparaxis type,,215,Dermatosparaxis,,,EhlersDanlos syndrome#dermatosparaxis type,,216,developmental disabilities,,217,dHMN,,,Amyotrophic lateral sclerosis#type 4,,218,DHMN-V,,,"distal spinal muscular atrophy, type V",,219,DHTR deficiency,,X,androgen insensitivity syndrome,,220,Diffuse Globoid Body Sclerosis,,,Krabbe disease,,221,Di George's syndrome,D,22q222,Dihydrotestosterone receptor deficiency,,X,androgen insensitivity syndrome,,223,"distal spinal muscular atrophy, type V",,224,DM1,T,19,Myotonic dystrophy#type 1,,225,DM2,T,3,Myotonic dystrophy#type 2,,226,Down syndrome,,21227,DSMAV,,,"distal spinal muscular atrophy, type V",,228,DSN,,,Charcot-Marie-Tooth disease#type 4,,229,DSS,,,"Charcot-Marie-Tooth disease, type 4",,230,Duchenne/Becker muscular dystrophy,,,"Muscular dystrophy, Duchenne and Becker type",,231,"Dwarf, achondroplastic",,3,achondroplasia,,232,"Dwarf, thanatophoric",,,thanatophoric dysplasia,,233,Dwarfism,,234,Dwarfism-retinal atrophy-deafness syndrome,,,Cockayne syndrome,,235,dysmyelinogenic leukodystrophy,,,Alexander disease,,236,Dystrophia myotonica,T,19,myotonic dystrophy,,237,dystrophia retinae pigmentosa-dysostosis syndrome,,,Usher syndrome,,238,Early-Onset familial alzheimer disease (EOFAD),,,Alzheimer disease#type 1,,,Alzheimer disease#type 3,,,Alzheimer disease#type 4,,239,EDS,,,EhlersDanlos syndrome,,240,EhlersDanlos syndrome,,241,Ekman-Lobstein disease,,,osteogenesis imperfecta,,242,Entrapment neuropathy,,,hereditary neuropathy with liability to pressure palsies,,243,Epiloia,,,tuberous sclerosis,,244,EPP,,,erythropoietic protoporphyria,,245,Erythroblastic anemia,,,beta-thalassemia,,246,Erythrohepatic protoporphyria,,,erythropoietic protoporphyria,,247,Erythroid 5-aminolevulinate synthetase deficiency,,,X-linked sideroblastic anemia,,248,Erythropoietic porphyria,,,congenital erythropoietic porphyria,,249,erythropoietic protoporphyria,,250,Erythropoietic uroporphyria,,,congenital erythropoietic porphyria,,251,Eye cancer,,,retinoblastoma FA - Friedreich ataxia,,,Friedreich's ataxia,,252,FA,,,fanconi anemia,,253,Fabry disease,P,Xq22.1254,Facial injuries and disorders,,255,factor V Leiden thrombophilia,,256,FALS,,,amyotrophic lateral sclerosis,,257,familial acoustic neuroma,,,neurofibromatosis type II,,258,familial adenomatous polyposis,,259,familial Alzheimer disease (FAD),,,Alzheimer's disease,,260,familial amyotrophic lateral sclerosis,,,amyotrophic lateral sclerosis,,261,familial dysautonomia,,262,familial fat-induced hypertriglyceridemia,,,"lipoprotein lipase deficiency, familial",,263,familial hemochromatosis,,,hemochromatosis,,264,familial LPL deficiency,,,"lipoprotein lipase deficiency, familial",,265,familial nonpolyposis colon cancer,,,hereditary nonpolyposis colorectal cancer,,266,familial paroxysmal polyserositis,,,"Mediterranean fever, familial",,267,familial PCT,,,porphyria cutanea tarda,,268,familial pressure-sensitive neuropathy,,,hereditary neuropathy with liability to pressure palsies,,269,familial primary pulmonary hypertension (FPPH),,,primary pulmonary hypertension,,270,Familial Turner syndrome,,,Noonan syndrome,,271,familial vascular leukoencephalopathy,,,CADASIL syndrome,,272,FAP,,,familial adenomatous polyposis,,273,FD,,,familial dysautonomia,,274,Female pseudo-Turner syndrome,,,Noonan syndrome,,275,Ferrochelatase deficiency,,,erythropoietic protoporphyria,,276,ferroportin disease,,,Haemochromatosis#type 4,,277,Fever,,,"Mediterranean fever, familial",,278,FG syndrome,,279,FGFR3-associated coronal synostosis,,,Muenke syndrome,,280,Fibrinoid degeneration of astrocytes,,,Alexander disease,,281,Fibrocystic disease of the pancreas,,,cystic fibrosis,,282,FMF,,,"Mediterranean fever, familial",,283,Folling disease,,,phenylketonuria,,284,fra(X) syndrome,,Xq27.3,fragile X syndrome,,285,fragile X syndrome,,Xq27.3286,Fragilitas ossium,,,osteogenesis imperfecta,,287,FRAXA syndrome,,Xq27.3,fragile X syndrome,,288,FRDA,,,Friedreich's ataxia,,289,Friedreich's ataxia,,,Friedreich's ataxia,,290,Friedreich's ataxia,,291,FXS,,Xq27.3,fragile X syndrome,,292,G6PD deficiency,,293,Galactokinase deficiency disease,,,galactosemia,,294,Galactose-1-phosphate uridyl-transferase deficiency disease,,,galactosemia,,295,galactosemia,,296,Galactosylceramidase deficiency disease,,,Krabbe disease,,297,Galactosylceramide lipidosis,,,Krabbe disease,,298,galactosylcerebrosidase deficiency,,,Krabbe disease,,299,galactosylsphingosine lipidosis,,,Krabbe disease,,300,GALC deficiency,,,Krabbe disease,,301,GALT deficiency,,,galactosemia,,302,Gaucher disease,,303,Gaucher-like disease,,,pseudo-Gaucher disease,,304,GBA deficiency,,,Gaucher disease type 1,,305,GD,,,Gaucher's disease,,306,Genetic brain disorders,,307,genetic emphysema,,,alpha 1-antitrypsin deficiency,,308,genetic hemochromatosis,,,hemochromatosis,,309,"Giant cell hepatitis, neonatal",,,Neonatal hemochromatosis,,310,GLA deficiency,,,Fabry disease,,311,"Glioblastoma, retinal",,,retinoblastoma,,312,"Glioma, retinal",,,retinoblastoma,,313,"globoid cell leukodystrophy (GCL, GLD)",,,Krabbe disease,,314,globoid cell leukoencephalopathy,,,Krabbe disease,,315,Glucocerebrosidase deficiency,,,Gaucher disease,,316,Glucocerebrosidosis,,,Gaucher disease,,317,Glucosyl cerebroside lipidosis,,,Gaucher disease,,318,Glucosylceramidase deficiency,,,Gaucher disease,,319,Glucosylceramide beta-glucosidase deficiency,,,Gaucher disease,,320,Glucosylceramide lipidosis,,,Gaucher disease,,321,Glyceric aciduria,,,"hyperoxaluria, primary",,322,Glycine encephalopathy,,,Nonketotic hyperglycinemia,,323,Glycolic aciduria,,,"hyperoxaluria, primary",,324,"GM2 gangliosidosis, type 1",,,Tay-Sachs disease,,325,Goiter-deafness syndrome,,,Pendred syndrome,,326,Graefe-Usher syndrome,,,Usher syndrome,,327,Gronblad-Strandberg syndrome,,,pseudoxanthoma elasticum,,328,Guenther porphyria,,,congenital erythropoietic porphyria,,329,Gunther disease,,,congenital erythropoietic porphyria,,330,Haemochromatosis,,,hemochromatosis,,331,Hallgren syndrome,,,Usher syndrome,,332,Harlequin type ichthyosis,,333,Hb S disease,,,sickle cell anemia,,334,HCH,,,hypochondroplasia,,335,HCP,,,hereditary coproporphyria,,336,Head and brain malformations,,337,Hearing disorders and deafness,,338,Hearing problems in children,,339,HEF2A,,,hemochromatosis#type 2,,340,HEF2B,,,hemochromatosis#type 2,,341,Hematoporphyria,,,porphyria,,342,Heme synthetase deficiency,,,erythropoietic protoporphyria,,343,Hemochromatoses,,,hemochromatosis,,344,hemochromatosis,,345,hemoglobin M disease,,,methemoglobinemia#beta-globin type,,346,Hemoglobin S disease,,,sickle cell anemia,,347,hemophilia,,348,HEP,,,hepatoerythropoietic porphyria,,349,hepatic AGT deficiency,,,"hyperoxaluria, primary",,350,hepatoerythropoietic porphyria,,351,Hepatolenticular degeneration syndrome,,,Wilson disease,,352,Hereditary arthro-ophthalmopathy,,,Stickler syndrome,,353,Hereditary coproporphyria,P,3q12354,Hereditary dystopic lipidosis,,,Fabry disease,,355,Hereditary hemochromatosis (HHC),,,hemochromatosis,,356,Hereditary hemorrhagic telangiectasia (HHT),,357,Hereditary Inclusion Body Myopathy,,,skeletal muscle regeneration,,358,Hereditary iron-loading anemia,,,X-linked sideroblastic anemia,,359,Hereditary motor and sensory neuropathy,,,Charcot-Marie-Tooth disease,,360,Hereditary motor neuronopathy,,,spinal muscular atrophy,,361,"Hereditary motor neuronopathy, type V",,,"distal spinal muscular atrophy, type V",,362,Hereditary multiple exostoses,,363,Hereditary nonpolyposis colorectal cancer,DNA mismatch repair dysfunction,usually chromosomes 2 and 3,,usually in MSH2 and MLH1 genes,364,Hereditary periodic fever syndrome,,,"Mediterranean fever, familial",,365,Hereditary Polyposis Coli,,,familial adenomatous polyposis,,366,Hereditary pulmonary emphysema,,,alpha 1-antitrypsin deficiency,,367,Hereditary resistance to activated protein C,,,factor V Leiden thrombophilia,,368,Hereditary sensory and autonomic neuropathy type III,,,familial dysautonomia,,369,Hereditary spastic paraplegia,,,infantile-onset ascending hereditary spastic paralysis,,370,Hereditary spinal ataxia,,,Friedreich's ataxia,,371,Hereditary spinal sclerosis,,,Friedreich's ataxia,,372,Herrick's anemia,,,sickle cell anemia,,373,Heterozygous OSMED,,,Weissenbacher-Zweymller syndrome,,374,Heterozygous otospondylomegaepiphyseal dysplasia,,,Weissenbacher-Zweymller syndrome,,375,HexA deficiency,,,Tay-Sachs disease,,376,Hexosaminidase A deficiency,,,Tay-Sachs disease,,377,Hexosaminidase alpha-subunit deficiency (variant B),,,Tay-Sachs disease,,378,HFE-associated hemochromatosis,,,hemochromatosis,,379,HGPS,,,Progeria,,380,Hippel-Lindau disease,,,von Hippel-Lindau disease,,381,HLAH,,,hemochromatosis,,382,HMN V,,,"distal spinal muscular atrophy, type V",,383,HMSN,,,Charcot-Marie-Tooth disease,,384,HNPCC,,,hereditary nonpolyposis colorectal cancer,,385,HNPP,,,hereditary neuropathy with liability to pressure palsies,,386,homocystinuria,,387,Homogentisic acid oxidase deficiency,,,alkaptonuria,,388,Homogentisic acidura,,,alkaptonuria,,389,Homozygous porphyria cutanea tarda,,,hepatoerythropoietic porphyria,,390,HP1,,,"hyperoxaluria, primary",,391,HP2,,,"hyperoxaluria, primary",,392,HPA,,,hyperphenylalaninemia,,393,HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency,,,Lesch-Nyhan syndrome,,394,HSAN type III,,,familial dysautonomia,,395,HSAN3,,,familial dysautonomia,,396,HSN-III,,,familial dysautonomia,,397,Human dermatosparaxis,,,EhlersDanlos syndrome#dermatosparaxis type,,398,Huntington's disease,T,4p16.3399,Hutchinson-Gilford progeria syndrome,,,progeria,,400,"Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency",,,21-hydroxylase deficiency,,401,"Hyperchylomicronemia, familial",,,"lipoprotein lipase deficiency, familial",,402,Hyperglycinemia with ketoacidosis and leukopenia,,,propionic acidemia,,403,Hyperlipoproteinemia type I,,,"lipoprotein lipase deficiency, familial",,404,"hyperoxaluria, primary",,405,hyperphenylalaninaemia,,,hyperphenylalaninemia,,406,hyperphenylalaninemia,,407,Hypochondrodysplasia,,,hypochondroplasia,,408,Hypochondrogenesis,,409,Hypochondroplasia,,4p16.3410,Hypochromic anemia,,,X-linked sideroblastic anemia,,411,"Hypocupremia, congenital",,,Menkes disease,,412,Hypoxanthine phosphoribosyltransferse (HPRT) deficiency,,,Lesch-Nyhan syndrome,,413,IAHSP,,,infantile-onset ascending hereditary spastic paralysis,,414,ICF syndrome,,20q11.2,"Immunodeficiency, centromere instability and facial anomalies syndrome",,415,Idiopathic hemochromatosis,,,"hemochromatosis, type 3",,416,Idiopathic neonatal hemochromatosis,,,"hemochromatosis, neonatal",,417,Idiopathic pulmonary hypertension,,,primary pulmonary hypertension,,418,Immune system disorders,,,X-linked severe combined immunodeficiency,,419,Incontinentia pigmenti,P,Xq28420,Infantile cerebral Gaucher's disease,,,Gaucher disease type 2,,421,Infantile Gaucher disease,,,Gaucher disease type 2,,422,infantile-onset ascending hereditary spastic paralysis,,423,Infertility,,424,inherited emphysema,,,alpha 1-antitrypsin deficiency,,425,Inherited human transmissible spongiform encephalopathies,,,prion disease,,426,inherited tendency to pressure palsies,,,hereditary neuropathy with liability to pressure palsies,,427,Insley-Astley syndrome,,,otospondylomegaepiphyseal dysplasia,,428,Intermittent acute porphyria syndrome,,,acute intermittent porphyria,,429,Intestinal polyposis-cutaneous pigmentation syndrome,,,PeutzJeghers syndrome,,430,IP,,,incontinentia pigmenti,,431,Iron storage disorder,,,hemochromatosis,,432,Isodicentric 15,Inv dup,15q11-14,isodicentric 15,,433,Isolated deafness,,,nonsyndromic deafness,,434,Jackson-Weiss syndrome,,435,JH,,,Haemochromatosis#type 2,,436,Joubert syndrome,,437,JPLS,,ALS2,Juvenile Primary Lateral Sclerosis,,438,juvenile amyotrophic lateral sclerosis,,,Amyotrophic lateral sclerosis#type 2,,439,"Juvenile gout, choreoathetosis, mental retardation syndrome",,,Lesch-Nyhan syndrome,,440,juvenile hyperuricemia syndrome,,,Lesch-Nyhan syndrome,,441,JWS,,,Jackson-Weiss syndrome,,442,KD,,,X-linked spinal-bulbar muscle atrophy,,443,Kennedy disease,,,X-linked spinal-bulbar muscle atrophy,,444,Kennedy spinal and bulbar muscular atrophy,,,X-linked spinal-bulbar muscle atrophy,,445,Kerasin histiocytosis,,,Gaucher disease,,446,Kerasin lipoidosis,,,Gaucher disease,,447,Kerasin thesaurismosis,,,Gaucher disease,,448,ketotic glycinemia,,,propionic acidemia,,449,ketotic hyperglycinemia,,,propionic acidemia,,450,Kidney diseases,,,"hyperoxaluria, primary",,451,Klinefelter syndrome,,452,Klinefelter syndrome,,,Klinefelter syndrome,,453,Kniest dysplasia,,454,Krabbe disease,,455,Lacunar dementia,,,CADASIL syndrome,,456,Langer-Saldino achondrogenesis,,,"achondrogenesis, type II",,457,Langer-Saldino dysplasia,,,"achondrogenesis, type II",,458,Late-onset Alzheimer disease,,,Alzheimer disease#type 2,,459,Late-onset familial Alzheimer disease (AD2),,,Alzheimer disease#type 2,,460,late-onset Krabbe disease (LOKD),,,Krabbe disease,,461,Learning Disorders,,,Learning disability,,462,"Lentiginosis, perioral",,,Peutz-Jeghers syndrome,,463,Lesch-Nyhan syndrome,,464,Leukodystrophies,,465,leukodystrophy with Rosenthal fibers,,,Alexander disease,,466,"Leukodystrophy, spongiform",,,Canavan disease,,467,LFS,,,Li-Fraumeni syndrome,,468,Li-Fraumeni syndrome,,469,Lipase D deficiency,,,"lipoprotein lipase deficiency, familial",,470,LIPD deficiency,,,"lipoprotein lipase deficiency, familial",,471,"Lipidosis, cerebroside",,,Gaucher disease,,472,"Lipidosis, ganglioside, infantile",,,Tay-Sachs disease,,473,Lipoid histiocytosis (kerasin type),,,Gaucher disease,,474,"lipoprotein lipase deficiency, familial",,475,Liver diseases,,,galactosemia,,476,Lou Gehrig disease,,,amyotrophic lateral sclerosis,,477,Louis-Bar syndrome,,,ataxia telangiectasia,,478,Lynch syndrome,,,hereditary nonpolyposis colorectal cancer,,479,Lysyl-hydroxylase deficiency,,,EhlersDanlos syndrome#kyphoscoliosis type,,480,Machado-Joseph disease,,,Spinocerebellar ataxia#type 3,,481,Male breast cancer,,,breast cancer,,482,Male genital disorders,,483,Male Turner syndrome,,,Noonan syndrome,,484,Malignant neoplasm of breast,,,breast cancer,,485,malignant tumor of breast,,,breast cancer,,486,Malignant tumor of urinary bladder,,,bladder cancer,,487,Mammary cancer,,,breast cancer,,488,Marfan syndrome,,15489,Marker X syndrome,,,fragile X syndrome,,490,Martin-Bell syndrome,,,fragile X syndrome,,491,McCuneAlbright syndrome,,20 q13.2-13.3492,McLeod syndrome,,X493,MEDNIK,D,AP1S1494,Mediterranean Anemia,,,beta-thalassemia,,495,"Mediterranean fever, familial",,496,Mega-epiphyseal dwarfism,,,otospondylomegaepiphyseal dysplasia,,497,Menkea syndrome,,,Menkes disease,,498,Menkes disease,,499,Mental retardation with osteocartilaginous abnormalities,,,Coffin-Lowry syndrome,,500,Metabolic disorders,,501,"Metatropic dwarfism, type II",,,Kniest dysplasia,,502,Metatropic dysplasia type II,,,Kniest dysplasia,,503,Methemoglobinemia#beta-globin type,,504,methylmalonic acidemia,,505,MFS,,,Marfan syndrome,,506,MHAM,,,Cowden syndrome,,507,MK,,,Menkes disease,,508,Micro syndrome,,2q21.3509,Microcephaly,P,1q31 (ASPM)510,MMA,,,methylmalonic acidemia,,511,MNK,,,Menkes disease,,512,Monosomy 1p36 syndrome,D,1p36,1p36 deletion syndrome,,513,monosomy X,,,Turner syndrome,,514,"Motor neuron disease, amyotrophic lateral sclerosis",,,amyotrophic lateral sclerosis,,515,Movement disorders,,516,Mowat-Wilson syndrome,,517,Mucopolysaccharidosis (MPS I),,518,Mucoviscidosis,,,cystic fibrosis,,519,Muenke syndrome,,520,Multi-Infarct dementia,,,CADASIL syndrome,,521,"Multiple carboxylase deficiency, late-onset",,,biotinidase deficiency,,522,Multiple hamartoma syndrome,,,Cowden syndrome,,523,Multiple neurofibromatosis,,,neurofibromatosis,,524,Muscular dystrophy,,525,"Muscular dystrophy, Duchenne and Becker type",,526,Myotonia atrophica,,,myotonic dystrophy,,527,Myotonia dystrophica,,,myotonic dystrophy,,528,myotonic dystrophy,,529,"Myxedema, congenital",,,congenital hypothyroidism,,530,Nance-Insley syndrome,,,otospondylomegaepiphyseal dysplasia,,531,Nance-Sweeney chondrodysplasia,,,otospondylomegaepiphyseal dysplasia,,532,NBIA1,,,pantothenate kinase-associated neurodegeneration,,533,Neill-Dingwall syndrome,,,Cockayne syndrome,,534,"Neuroblastoma, retinal",,,retinoblastoma,,535,Neurodegeneration with brain iron accumulation type 1,,,pantothenate kinase-associated neurodegeneration,,536,Neurofibromatosis type I,,17q11.2537,Neurofibromatosis type II,,538,Neurologic diseases,,539,Neuromuscular disorders,,540,"neuronopathy, distal hereditary motor, type V",,,Distal spinal muscular atrophy#type V,,541,"neuronopathy, distal hereditary motor, with pyramidal features",,,Amyotrophic lateral sclerosis#type 4,,542,Niemann-Pick,"NPA, NPB, NPC1, NPC2,",SMPD1,NiemannPick disease,Sphingomyelin phosphodiesterase 1,543,Noack syndrome,,,Pfeiffer syndrome,,544,Nonketotic hyperglycinemia,,,Glycine encephalopathy,,545,Non-neuronopathic Gaucher disease,,,Gaucher disease type 1,,546,Non-phenylketonuric hyperphenylalaninemia,,,tetrahydrobiopterin deficiency,,547,nonsyndromic deafness,,548,Noonan syndrome,,549,Norrbottnian Gaucher disease,,,Gaucher disease type 3,,550,Ochronosis,,,alkaptonuria,,551,Ochronotic arthritis,,,alkaptonuria,,552,OI,,,osteogenesis imperfecta,,553,Osler-Weber-Rendu disease,,,Hereditary hemorrhagic telangiectasia,,554,OSMED,,,otospondylomegaepiphyseal dysplasia,,555,osteogenesis imperfecta,,556,Osteopsathyrosis,,,osteogenesis imperfecta,,557,Osteosclerosis congenita,,,achondroplasia,,558,Oto-spondylo-megaepiphyseal dysplasia,,,otospondylomegaepiphyseal dysplasia,,559,otospondylomegaepiphyseal dysplasia,,560,Oxalosis,,,"hyperoxaluria, primary",,561,"Oxaluria, primary",,,"hyperoxaluria, primary",,562,pantothenate kinase-associated neurodegeneration,,563,Patau Syndrome (Trisomy 13),,564,PBGD deficiency,,,acute intermittent porphyria,,565,PCC deficiency,,,propionic acidemia,,566,PCT,,,porphyria cutanea tarda,,567,PDM,,,Myotonic dystrophy#type 2,,568,Pendred syndrome,,569,Periodic disease,,,"Mediterranean fever, familial",,570,Periodic peritonitis,,,"Mediterranean fever, familial",,571,Periorificial lentiginosis syndrome,,,Peutz-Jeghers syndrome,,572,Peripheral nerve disorders,,,familial dysautonomia,,573,Peripheral neurofibromatosis,,,neurofibromatosis type I,,574,Peroneal muscular atrophy,,,Charcot-Marie-Tooth disease,,575,peroxisomal alanine:glyoxylate aminotransferase deficiency,,,"hyperoxaluria, primary",,576,Peutz-Jeghers syndrome,,577,Pfeiffer syndrome,,578,Phenylalanine hydroxylase deficiency disease,,,phenylketonuria,,579,phenylketonuria,,580,Pheochromocytoma,,,von Hippel-Lindau disease,,581,Pierre Robin syndrome with fetal chondrodysplasia,,,Weissenbacher-Zweymller syndrome,,582,Pigmentary cirrhosis,,,hemochromatosis,,583,PJS,,,Peutz-Jeghers syndrome,,584,PKAN,,,pantothenate kinase-associated neurodegeneration,,585,PKU,,,phenylketonuria,,586,Plumboporphyria,,,ALA deficiency porphyria,,587,PMA,,,Charcot-Marie-tooth disease,,588,Polycystic kidney disease,P,16 (PKD1) or 4 (PKD2)589,polyostotic fibrous dysplasia,,20 q13.2-13.3,McCuneAlbright syndrome,,590,polyposis coli,,,familial adenomatous polyposis,,591,"polyposis, hamartomatous intestinal",,,Peutz-Jeghers syndrome,,592,"polyposis, intestinal, II",,,Peutz-Jeghers syndrome,,593,polyps-and-spots syndrome,,,Peutz-Jeghers syndrome,,594,Porphobilinogen synthase deficiency,,,ALA deficiency porphyria,,595,porphyria,,596,porphyrin disorder,,,porphyria,,597,PPH,,,primary pulmonary hypertension,,598,PPOX deficiency,,,variegate porphyria,,599,Prader-Labhart-Willi syndrome,,,Prader-Willi syndrome,,600,Prader-Willi syndrome,,601,presenile and senile dementia,,,Alzheimer's disease,,602,primary hemochromatosis,,,hemochromatosis,,603,primary hyperuricemia syndrome,,,Lesch-Nyhan syndrome,,604,primary pulmonary hypertension,,605,primary senile degenerative dementia,,,Alzheimer's disease,,606,prion disease,,607,"procollagen type EDS VII, mutant",,,EhlersDanlos syndrome#arthrochalasia type,,608,progeria,,,Hutchinson Gilford Progeria Syndrome,,609,Progeria-like syndrome,,,Cockayne syndrome,,610,progeroid nanism,,,Cockayne syndrome,,611,"progressive chorea, chronic hereditary (Huntington)",,,Huntington's disease,,612,progressive muscular atrophy,,,spinal muscular atrophy,,613,progressively deforming osteogenesis imperfecta with normal sclerae,,,Osteogenesis imperfecta#Type III,,614,PROMM,,,Myotonic dystrophy#type 2,,615,propionic acidemia,,616,propionyl-CoA carboxylase deficiency,,,propionic acidemia,,617,protein C deficiency,,618,protein S deficiency,,619,protoporphyria,,,erythropoietic protoporphyria,,620,protoporphyrinogen oxidase deficiency,,,variegate porphyria,,621,proximal myotonic dystrophy,,,Myotonic dystrophy#type 2,,622,proximal myotonic myopathy,,,Myotonic dystrophy#type 2,,623,pseudo-Gaucher disease,,624,pseudo-Ullrich-Turner syndrome,,,Noonan syndrome,,625,pseudoxanthoma elasticum,,626,psychosine lipidosis,,,Krabbe disease,,627,pulmonary arterial hypertension,,,primary pulmonary hypertension,,628,pulmonary hypertension,,,primary pulmonary hypertension,,629,PWS,,,Prader-Willi syndrome,,630,PXE - pseudoxanthoma elasticum,,,pseudoxanthoma elasticum,,631,Rb,,,retinoblastoma,,632,"Recklinghausen disease, nerve",,,neurofibromatosis type I,,633,Recurrent polyserositis,,,"Mediterranean fever, familial",,634,Retinal disorders,,635,Retinitis pigmentosa-deafness syndrome,,,Usher syndrome,,636,Retinoblastoma,,637,Rett syndrome,,638,RFALS type 3,,,Amyotrophic lateral sclerosis#type 2,,639,Ricker syndrome,,,Myotonic dystrophy#type 2,,640,Riley-Day syndrome,,,familial dysautonomia,,641,Roussy-Levy syndrome,,,Charcot-Marie-Tooth disease,,642,RSTS,,,Rubinstein-Taybi syndrome,,643,RTS,,,Rett syndrome,,,Rubinstein-Taybi syndrome,,644,RTT,,,Rett syndrome,,645,Rubinstein-Taybi syndrome,,646,Sack-Barabas syndrome,,,"EhlersDanlos syndrome, vascular type",,647,SADDAN,,648,sarcoma family syndrome of Li and Fraumeni,,,Li-Fraumeni syndrome,,649,"sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome",,,Li-Fraumeni syndrome,,650,SBLA syndrome,,,Li-Fraumeni syndrome,,651,SBMA,,,X-linked spinal-bulbar muscle atrophy,,652,SCD,,,sickle cell anemia,,653,"Schwannoma, acoustic, bilateral",,,neurofibromatosis type II,,654,SchwartzJampel syndrome,,655,SCIDX1,,,X-linked severe combined immunodeficiency,,656,sclerosis tuberosa,,,tuberous sclerosis,,657,SDAT,,,Alzheimer's disease,,658,SED congenita,,,spondyloepiphyseal dysplasia congenita,,659,SED Strudwick,,,"spondyloepimetaphyseal dysplasia, Strudwick type",,660,SEDc,,,spondyloepiphyseal dysplasia congenita,,661,"SEMD, Strudwick type",,,"spondyloepimetaphyseal dysplasia, Strudwick type",,662,senile dementia,,,Alzheimer disease#type 2,,663,severe achondroplasia with developmental delay and acanthosis nigricans,,,SADDAN,,664,Shprintzen syndrome,D,22q,22q11.2 deletion syndrome,,665,sickle cell anemia,D,18q666,Siderius X-linked mental retardation syndrome,PD,Xp11.22667,skeleton-skin-brain syndrome,,,SADDAN,,668,Skin pigmentation disorders,,669,SMA,,,spinal muscular atrophy,,670,"SMED, Strudwick type",,,"spondyloepimetaphyseal dysplasia, Strudwick type",,671,"SMED, type I",,,"spondyloepimetaphyseal dysplasia, Strudwick type",,672,Smith-Lemli-Opitz syndrome,,673,Smith Magenis Syndrome,,674,South-African genetic porphyria,,,variegate porphyria,,675,"spastic paralysis, infantile onset ascending",,,infantile-onset ascending hereditary spastic paralysis,,676,Speech and communication disorders,,677,"sphingolipidosis, Tay-Sachs",,,Tay-Sachs disease,,678,spinal-bulbar muscular atrophy,,679,spinal muscular atrophy,,680,"spinal muscular atrophy, distal type V",,,Distal spinal muscular atrophy#type V,,681,"spinal muscular atrophy, distal, with upper limb predominance",,,Distal spinal muscular atrophy#type V,,682,spinocerebellar ataxia,,683,"spondyloepimetaphyseal dysplasia, Strudwick type",,684,spondyloepiphyseal dysplasia congenita,,685,spondyloepiphyseal dysplasia,,,"collagenopathy, types II and XI",,686,"spondylometaepiphyseal dysplasia congenita, Strudwick type",,,"spondyloepimetaphyseal dysplasia, Strudwick type",,687,spondylometaphyseal dysplasia (SMD),,,"spondyloepimetaphyseal dysplasia, Strudwick type",,688,"spondylometaphyseal dysplasia, Strudwick type",,,"spondyloepimetaphyseal dysplasia, Strudwick type",,689,spongy degeneration of central nervous system,,,Canavan disease,,690,spongy degeneration of the brain,,,Canavan disease,,691,spongy degeneration of white matter in infancy,,,Canavan disease,,692,sporadic primary pulmonary hypertension,,,primary pulmonary hypertension,,693,SSB syndrome,,,SADDAN,,694,steely hair syndrome,,,Menkes disease,,695,Steinert disease,,,myotonic dystrophy,,696,Steinert myotonic dystrophy syndrome,,,myotonic dystrophy,,697,Stickler syndrome,,698,stroke,,,CADASIL syndrome,,699,Strudwick syndrome,,,"spondyloepimetaphyseal dysplasia, Strudwick type",,700,subacute neuronopathic Gaucher disease,,,Gaucher disease type 3,,701,Swedish genetic porphyria,,,acute intermittent porphyria,,702,Swedish porphyria,,,acute intermittent porphyria,,703,Swiss cheese cartilage dysplasia,,,Kniest dysplasia,,704,Tay-Sachs disease,,705,TD - thanatophoric dwarfism,,,thanatophoric dysplasia,,706,TD with straight femurs and cloverleaf skull,,,thanatophoric dysplasia#Type 2,,707,"Telangiectasia, cerebello-oculocutaneous",,,ataxia telangiectasia,,708,Testicular feminization syndrome,,,androgen insensitivity syndrome,,709,tetrahydrobiopterin deficiency,,710,TFM - testicular feminization syndrome,,,androgen insensitivity syndrome,,711,thalassemia intermedia,,,beta-thalassemia,,712,Thalassemia Major,,,beta-thalassemia,,713,thanatophoric dysplasia,,714,"Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type",,,factor V Leiden thrombophilia,,715,Thyroid disease,,716,Tomaculous neuropathy,,,hereditary neuropathy with liability to pressure palsies,,717,Total HPRT deficiency,,,Lesch-Nyhan syndrome,,718,Total hypoxanthine-guanine phosphoribosyl transferase deficiency,,,Lesch-Nyhan syndrome,,719,Transmissible dementias,,,prion disease,,720,Transmissible spongiform encephalopathies,,,prion disease,,721,Treacher Collins syndrome,,5q32-q33.1722,Trias fragilitis ossium,,,osteogenesis imperfecta#Type I,,723,triple X syndrome,,724,Triplo X syndrome,,,triple X syndrome,,725,Trisomy 21,,,Down syndrome,,726,Trisomy X,,,triple X syndrome,,727,Troisier-Hanot-Chauffard syndrome,,,hemochromatosis,,728,TS,,,Turner syndrome,,729,TSD,,,Tay-Sachs disease,,730,TSEs,,,prion disease,,731,tuberose sclerosis,,,tuberous sclerosis,,732,tuberous sclerosis,,733,Turner syndrome,,734,Turner syndrome in female with X chromosome,,,Noonan syndrome,,735,"Turner's phenotype, karyotype normal",,,Noonan syndrome,,736,Turner's syndrome,,,Turner syndrome,,737,Turner-like syndrome,,,Noonan syndrome,,738,Type 2 Gaucher disease,,,Gaucher disease type 2,,739,Type 3 Gaucher disease,,,Gaucher disease type 3,,740,UDP-galactose-4-epimerase deficiency disease,,,galactosemia,,741,UDP glucose 4-epimerase deficiency disease,,,galactosemia,,742,UDP glucose hexose-1-phosphate uridylyltransferase deficiency,,,galactosemia,,743,Ullrich-Noonan syndrome,,,Noonan syndrome,,744,Ullrich-Turner syndrome,,,Turner syndrome,,745,Undifferentiated deafness,,,nonsyndromic deafness,,746,UPS deficiency,,,acute intermittent porphyria,,747,Urinary bladder cancer,,,bladder cancer,,748,UROD deficiency,,,porphyria cutanea tarda,,749,Uroporphyrinogen decarboxylase deficiency,,,porphyria cutanea tarda,,750,Uroporphyrinogen synthase deficiency,,,acute intermittent porphyria,,751,UROS deficiency,,,congenital erythropoietic porphyria,,752,Usher syndrome,,753,UTP hexose-1-phosphate uridylyltransferase deficiency,,,galactosemia,,754,Van Bogaert-Bertrand syndrome,,,Canavan disease,,755,Van der Hoeve syndrome,,,osteogenesis imperfecta#Type I,,756,variegate porphyria,,757,Velocardiofacial syndrome,D,22q,22q11.2 deletion syndrome,,758,VHL syndrome,,,von Hippel-Lindau disease,,759,Vision impairment and blindness,,,Alstrm syndrome,,760,Von Bogaert-Bertrand disease,,,Canavan disease,,761,von Hippel-Lindau disease,,762,Von Recklenhausen-Applebaum disease,,,hemochromatosis,,763,von Recklinghausen disease,,,neurofibromatosis type I,,764,VP,,,variegate porphyria,,765,Vrolik disease,,,osteogenesis imperfecta,,766,Waardenburg syndrome,,767,Warburg Sjo Fledelius Syndrome,,2q21.3,Micro syndrome,,768,WD,,,Wilson disease,,769,Weissenbacher-Zweymller syndrome,,770,Williams Syndrome,,771,Wilson disease,,772,Wilson's disease,,,Wilson disease,,773,WolfHirschhorn syndrome,D,4p774,Wolff Periodic disease,,,"Mediterranean fever, familial",,775,WZS,,,Weissenbacher-Zweymller syndrome,,776,Xeroderma pigmentosum,ERCC4,15777,X-linked mental retardation and macroorchidism,,,fragile X syndrome,,778,X-linked primary hyperuricemia,,,Lesch-Nyhan syndrome,,779,X-linked severe combined immunodeficiency,,780,X-linked sideroblastic anemia,,781,X-linked spinal-bulbar muscle atrophy,,,Kennedy's disease,,782,X-linked uric aciduria enzyme defect,,,Lesch-Nyhan syndrome,,783,X-SCID,,,X-linked severe combined immunodeficiency,,784,XLSA,,,X-linked sideroblastic anemia,,785,XSCID,,,X-linked severe combined immunodeficiency,,786,XXX syndrome,,,triple X syndrome,,787,XXXX syndrome,,,"48, XXXX",,788,XXXXX syndrome,,,"49, XXXXX",,789,XXY syndrome,,,Klinefelter syndrome,,790,XXY trisomy,,,Klinefelter syndrome,,791,XYY karyotype,,,"47,XYY syndrome",,792,XYY syndrome,,,"47,XYY syndrome",,793,YY syndrome,,,"47,XYY syndrome",,,,,For other more formats kindly visit : www.downloadexcelfiles.com,,,,,,Original source : en.wikipedia.org/wiki/List_of_genetic_disorders,,,