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Sortable table Disorder name Mutation type Chromosome 1p36 deletion syndrome D 1p36 18p deletion syndrome D 18p 21-hydroxylase deficiency 6p21.3 45,X see Turner syndrome C X 47,XX,+21 see Down syndrome C 21 47,XXX see triple X syndrome C X 47,XXY see Klinefelter syndrome C X 47,XY,+21 see Down syndrome C 21 47,XYY syndrome C Y 5-ALA dehydratase-deficient porphyria see ALA dehydratase deficiency 5-aminolaevulinic dehydratase deficiency porphyria see ALA dehydratase deficiency 5p deletion syndrome see Cri du chat D 5p 5p- syndrome see Cri du chat D 5p A-T see ataxia telangiectasia AAT see alpha 1-antitrypsin deficiency Absence of vas deferens see congenital absence of the vas deferens Absent vasa see congenital absence of the vas deferens aceruloplasminemia ACG2 see achondrogenesis type II ACH see achondroplasia Achondrogenesis type II achondroplasia substitution 4p16.3 Acid beta-glucosidase deficiency see Gaucher disease type 1 Acrocephalosyndactyly (Apert) see Apert syndrome acrocephalosyndactyly, type V see Pfeiffer syndrome Acrocephaly see Apert syndrome Acute cerebral Gaucher's disease see Gaucher disease type 2 acute intermittent porphyria ACY2 deficiency see Canavan disease AD see Alzheimer's disease Adelaide-type craniosynostosis see Muenke syndrome Adenomatous Polyposis Coli see familial adenomatous polyposis Adenomatous Polyposis of the Colon see familial adenomatous polyposis ADP see ALA dehydratase deficiency adenylosuccinate lyase deficiency Adrenal gland disorders see 21-hydroxylase deficiency Adrenogenital syndrome see 21-hydroxylase deficiency Adrenoleukodystrophy AIP see acute intermittent porphyria AIS see androgen insensitivity syndrome AKU see alkaptonuria ALA dehydratase porphyria see ALA dehydratase deficiency ALA-D porphyria see ALA dehydratase deficiency ALA dehydratase deficiency Albinism Alcaptonuria see alkaptonuria Alexander disease alkaptonuria Alkaptonuric ochronosis see alkaptonuria alpha 1-antitrypsin deficiency alpha-1 proteinase inhibitor see alpha 1-antitrypsin deficiency 14q32.1 alpha-1 related emphysema see alpha 1-antitrypsin deficiency 14q32.1 Alpha-galactosidase A deficiency see Fabry disease P Xq22.1 ALS see amyotrophic lateral sclerosis Alström syndrome ALX see Alexander disease Alzheimer's disease Amelogenesis imperfecta Amino levulinic acid dehydratase deficiency see ALA dehydratase deficiency Aminoacylase 2 deficiency see Canavan disease amyotrophic lateral sclerosis Anderson-Fabry disease see Fabry disease P Xq22.1 androgen insensitivity syndrome Anemia Anemia, hereditary sideroblastic see X-linked sideroblastic anemia X Anemia, sex-linked hypochromic sideroblastic see X-linked sideroblastic anemia X Anemia, splenic, familial see Gaucher disease Angelman syndrome Angiokeratoma Corporis Diffusum see Fabry disease P Xq22.1 Angiokeratoma diffuse see Fabry disease Angiomatosis retinae see von Hippel–Lindau disease ANH1 see X-linked sideroblastic anemia X APC resistance, Leiden type see factor V Leiden thrombophilia Apert syndrome AR deficiency see androgen insensitivity syndrome AR-CMT2 see Charcot-Marie-Tooth disease, type 2 Arachnodactyly see Marfan syndrome ARNSHL see Nonsyndromic deafness#autosomal recessive Arthro-ophthalmopathy, hereditary progressive see Stickler syndrome#COL2A1 Arthrochalasis multiplex congenita see Ehlers–Danlos syndrome#arthrochalasia type AS see Angelman syndrome Asp deficiency see Canavan disease Aspa deficiency see Canavan disease Aspartoacylase deficiency see Canavan disease ataxia telangiectasia Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome see Rett syndrome autosomal dominant juvenile ALS see amyotrophic lateral sclerosis, type 4 Autosomal dominant opitz G/BBB syndrome see 22q11.2 deletion syndrome D 22q autosomal recessive form of juvenile ALS type 3 see Amyotrophic lateral sclerosis#type 2 Autosomal recessive nonsyndromic hearing loss see Nonsyndromic deafness#autosomal recessive Autosomal Recessive Sensorineural Hearing Impairment and Goiter see Pendred syndrome AxD see Alexander disease Ayerza syndrome see primary pulmonary hypertension B variant of the Hexosaminidase GM2 gangliosidosis see Sandhoff disease BANF see neurofibromatosis type II Beare-Stevenson cutis gyrata syndrome 10q26 Benign paroxysmal peritonitis see Mediterranean fever, familial Benjamin syndrome beta-thalassemia BH4 Deficiency see tetrahydrobiopterin deficiency Bilateral Acoustic Neurofibromatosis see neurofibromatosis type II biotinidase deficiency bladder cancer Bleeding disorders see factor V Leiden thrombophilia Bloch-Sulzberger syndrome see incontinentia pigmenti Bloom syndrome 15q26.1 Bone diseases Bone marrow diseases see X-linked sideroblastic anemia Bonnevie-Ullrich syndrome see Turner syndrome Bourneville disease see tuberous sclerosis Bourneville phakomatosis see tuberous sclerosis Brain diseases see prion disease breast cancer Birt–Hogg–Dubé syndrome 17 Brittle bone disease see osteogenesis imperfecta Broad Thumb-Hallux syndrome see Rubinstein-Taybi syndrome Bronze Diabetes see hemochromatosis Bronzed cirrhosis see hemochromatosis Bulbospinal muscular atrophy, X-linked see Kennedy's disease Burger-Grutz syndrome see lipoprotein lipase deficiency, familial CADASIL syndrome P 3 CGD Chronic granulomatous disorder Campomelic dysplasia C 17q24.3-q25.1 Canavan disease Cancer Cancer Family syndrome see hereditary nonpolyposis colorectal cancer Cancer of breast see breast cancer [1] Cancer of the bladder see bladder cancer Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency P 3 Cardiomyopathy see Noonan syndrome Cat cry syndrome see Cri du chat CAVD see congenital absence of the vas deferens Caylor cardiofacial syndrome see 22q11.2 deletion syndrome D 22q CBAVD see congenital absence of the vas deferens CEP see congenital erythropoietic porphyria Ceramide trihexosidase deficiency see Fabry disease X Cerebelloretinal Angiomatosis, familial see von Hippel-Lindau disease P 3 (p26-p25) Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy see CADASIL syndrome P 3 Cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy see CADASIL syndrome P 3 Cerebral sclerosis see tuberous sclerosis 9 (q34), 16 (p13.3) Cerebroatrophic Hyperammonemia see Rett syndrome X Cerebroside Lipidosis syndrome see Gaucher disease P 1(q21) CF see cystic fibrosis [2] D (most common); or substitution CFTR (7q31.2) CH see congenital hypothyroidism Charcot disease see amyotrophic lateral sclerosis Charcot-Marie-Tooth disease Chondrodystrophia see achondroplasia Chondrodystrophy syndrome see achondroplasia Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia Chondrogenesis imperfecta see achondrogenesis, type II Choreoathetosis self-mutilation hyperuricemia syndrome see Lesch-Nyhan syndrome P X Classic Galactosemia see galactosemia P 9 (p13) Classical Ehlers–Danlos syndrome see Ehlers–Danlos syndrome#classical type Classical Phenylketonuria see phenylketonuria Cleft lip and palate see Stickler syndrome Cloverleaf skull with thanatophoric dwarfism see Thanatophoric dysplasia#type 2 CLS see Coffin-Lowry syndrome CMT see Charcot-Marie-Tooth disease Cockayne syndrome Coffin-Lowry syndrome collagenopathy, types II and XI Colon Cancer, familial Nonpolyposis see hereditary nonpolyposis colorectal cancer Colon cancer, familial see familial adenomatous polyposis Colorectal cancer [3] Complete HPRT deficiency see Lesch-Nyhan syndrome Complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome Compression neuropathy see hereditary neuropathy with liability to pressure palsies Congenital adrenal hyperplasia see 21-hydroxylase deficiency congenital bilateral absence of vas deferens see Congenital absence of the vas deferens Congenital erythropoietic porphyria Congenital heart disease Congenital hypomyelination see Charcot-Marie-Tooth disease#Type 1 see Charcot-Marie-Tooth disease#Type 4 Congenital hypothyroidism Congenital methemoglobinemia see Methemoglobinemia#Congenital methaemoglobinaemia Congenital osteosclerosis see achondroplasia Congenital sideroblastic anaemia see X-linked sideroblastic anemia X Connective tissue disease Conotruncal anomaly face syndrome see 22q11.2 deletion syndrome D 22q Cooley's Anemia see beta-thalassemia Copper storage disease see Wilson's disease 13 (q14.3) Copper transport disease see Menkes disease Coproporphyria, hereditary see hereditary coproporphyria Coproporphyrinogen oxidase deficiency see hereditary coproporphyria Cowden syndrome CPO deficiency see hereditary coproporphyria CPRO deficiency see hereditary coproporphyria CPX deficiency see hereditary coproporphyria Craniofacial dysarthrosis see Crouzon syndrome Craniofacial Dysostosis see Crouzon syndrome Cretinism see congenital hypothyroidism Creutzfeldt-Jakob disease see prion disease Cri du chat D 5p Crohn's disease, fibrostenosing P 16q12 Crouzon syndrome FGFR2 (10q25.3-q26) Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome Crouzonodermoskeletal syndrome CS see Cockayne syndrome see Cowden syndrome Curschmann-Batten-Steinert syndrome see myotonic dystrophy cutis gyrata syndrome of Beare-Stevenson see Beare-Stevenson cutis gyrata syndrome D-glycerate dehydrogenase deficiency see hyperoxaluria, primary Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type DAT - Dementia Alzheimer's type see Alzheimer's disease Genetic hypercalciuria see Dent's disease Xp11.22 DBMD see muscular dystrophy, Duchenne and Becker types Deafness with goiter see Pendred syndrome Deafness-retinitis pigmentosa syndrome see Usher syndrome Deficiency disease, Phenylalanine Hydroxylase see phenylketonuria P 12q Degenerative nerve diseases de Grouchy syndrome 1 see De Grouchy syndrome D 18p Dejerine-Sottas syndrome see Charcot-Marie-Tooth disease Delta-aminolevulinate dehydratase deficiency porphyria see ALA dehydratase deficiency Dementia see CADASIL syndrome demyelinogenic leukodystrophy see Alexander disease Dermatosparactic type of Ehlers–Danlos syndrome see Ehlers–Danlos syndrome#dermatosparaxis type Dermatosparaxis see Ehlers–Danlos syndrome#dermatosparaxis type developmental disabilities dHMN see Amyotrophic lateral sclerosis#type 4 DHMN-V see distal spinal muscular atrophy, type V DHTR deficiency see androgen insensitivity syndrome X Diffuse Globoid Body Sclerosis see Krabbe disease Di George's syndrome D 22q Dihydrotestosterone receptor deficiency see androgen insensitivity syndrome X distal spinal muscular atrophy, type V DM1 see Myotonic dystrophy#type 1 T 19 DM2 see Myotonic dystrophy#type 2 T 3 Down syndrome 21 DSMAV see distal spinal muscular atrophy, type V DSN see Charcot-Marie-Tooth disease#type 4 DSS see Charcot-Marie-Tooth disease, type 4 Duchenne/Becker muscular dystrophy see Muscular dystrophy, Duchenne and Becker type Dwarf, achondroplastic see achondroplasia 3 Dwarf, thanatophoric see thanatophoric dysplasia Dwarfism Dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome dysmyelinogenic leukodystrophy see Alexander disease Dystrophia myotonica see myotonic dystrophy T 19 dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome Early-Onset familial alzheimer disease (EOFAD) see Alzheimer disease#type 1 see Alzheimer disease#type 3 see Alzheimer disease#type 4 EDS see Ehlers–Danlos syndrome Ehlers–Danlos syndrome Ekman-Lobstein disease see osteogenesis imperfecta Entrapment neuropathy see hereditary neuropathy with liability to pressure palsies Epiloia see tuberous sclerosis EPP see erythropoietic protoporphyria Erythroblastic anemia see beta-thalassemia Erythrohepatic protoporphyria see erythropoietic protoporphyria Erythroid 5-aminolevulinate synthetase deficiency see X-linked sideroblastic anemia Erythropoietic porphyria see congenital erythropoietic porphyria erythropoietic protoporphyria Erythropoietic uroporphyria see congenital erythropoietic porphyria Eye cancer see retinoblastoma FA - Friedreich ataxia see Friedreich's ataxia FA see fanconi anemia Fabry disease P Xq22.1 Facial injuries and disorders factor V Leiden thrombophilia FALS see amyotrophic lateral sclerosis familial acoustic neuroma see neurofibromatosis type II familial adenomatous polyposis familial Alzheimer disease (FAD) see Alzheimer's disease familial amyotrophic lateral sclerosis see amyotrophic lateral sclerosis familial dysautonomia familial fat-induced hypertriglyceridemia see lipoprotein lipase deficiency, familial familial hemochromatosis see hemochromatosis familial LPL deficiency see lipoprotein lipase deficiency, familial familial nonpolyposis colon cancer see hereditary nonpolyposis colorectal cancer familial paroxysmal polyserositis see Mediterranean fever, familial familial PCT see porphyria cutanea tarda familial pressure-sensitive neuropathy see hereditary neuropathy with liability to pressure palsies familial primary pulmonary hypertension (FPPH) see primary pulmonary hypertension Familial Turner syndrome see Noonan syndrome familial vascular leukoencephalopathy see CADASIL syndrome FAP see familial adenomatous polyposis FD see familial dysautonomia Female pseudo-Turner syndrome see Noonan syndrome Ferrochelatase deficiency see erythropoietic protoporphyria ferroportin disease see Haemochromatosis#type 4 Fever see Mediterranean fever, familial FG syndrome FGFR3-associated coronal synostosis see Muenke syndrome Fibrinoid degeneration of astrocytes see Alexander disease Fibrocystic disease of the pancreas see cystic fibrosis FMF see Mediterranean fever, familial Folling disease see phenylketonuria fra(X) syndrome see fragile X syndrome Xq27.3 fragile X syndrome Xq27.3 Fragilitas ossium see osteogenesis imperfecta FRAXA syndrome see fragile X syndrome Xq27.3 FRDA see Friedreich's ataxia Friedreich's ataxia see Friedreich's ataxia Friedreich's ataxia FXS see fragile X syndrome Xq27.3 G6PD deficiency Galactokinase deficiency disease see galactosemia Galactose-1-phosphate uridyl-transferase deficiency disease see galactosemia galactosemia Galactosylceramidase deficiency disease see Krabbe disease Galactosylceramide lipidosis see Krabbe disease galactosylcerebrosidase deficiency see Krabbe disease galactosylsphingosine lipidosis see Krabbe disease GALC deficiency see Krabbe disease GALT deficiency see galactosemia Gaucher disease Gaucher-like disease see pseudo-Gaucher disease GBA deficiency see Gaucher disease type 1 GD see Gaucher's disease Genetic brain disorders genetic emphysema see alpha 1-antitrypsin deficiency genetic hemochromatosis see hemochromatosis Giant cell hepatitis, neonatal see Neonatal hemochromatosis GLA deficiency see Fabry disease Glioblastoma, retinal see retinoblastoma Glioma, retinal see retinoblastoma globoid cell leukodystrophy (GCL, GLD) see Krabbe disease globoid cell leukoencephalopathy see Krabbe disease Glucocerebrosidase deficiency see Gaucher disease Glucocerebrosidosis see Gaucher disease Glucosyl cerebroside lipidosis see Gaucher disease Glucosylceramidase deficiency see Gaucher disease Glucosylceramide beta-glucosidase deficiency see Gaucher disease Glucosylceramide lipidosis see Gaucher disease Glyceric aciduria see hyperoxaluria, primary Glycine encephalopathy see Nonketotic hyperglycinemia Glycolic aciduria see hyperoxaluria, primary GM2 gangliosidosis, type 1 see Tay-Sachs disease Goiter-deafness syndrome see Pendred syndrome Graefe-Usher syndrome see Usher syndrome Gronblad-Strandberg syndrome see pseudoxanthoma elasticum Guenther porphyria see congenital erythropoietic porphyria Gunther disease see congenital erythropoietic porphyria Haemochromatosis see hemochromatosis Hallgren syndrome see Usher syndrome Harlequin type ichthyosis Hb S disease see sickle cell anemia HCH see hypochondroplasia HCP see hereditary coproporphyria Head and brain malformations Hearing disorders and deafness Hearing problems in children HEF2A see hemochromatosis#type 2 HEF2B see hemochromatosis#type 2 Hematoporphyria see porphyria Heme synthetase deficiency see erythropoietic protoporphyria Hemochromatoses see hemochromatosis hemochromatosis hemoglobin M disease see methemoglobinemia#beta-globin type Hemoglobin S disease see sickle cell anemia hemophilia HEP see hepatoerythropoietic porphyria hepatic AGT deficiency see hyperoxaluria, primary hepatoerythropoietic porphyria Hepatolenticular degeneration syndrome see Wilson disease Hereditary arthro-ophthalmopathy see Stickler syndrome Hereditary coproporphyria P 3q12 Hereditary dystopic lipidosis see Fabry disease Hereditary hemochromatosis (HHC) see hemochromatosis [4] Hereditary hemorrhagic telangiectasia (HHT) Hereditary Inclusion Body Myopathy see skeletal muscle regeneration Hereditary iron-loading anemia see X-linked sideroblastic anemia Hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease Hereditary motor neuronopathy see spinal muscular atrophy Hereditary motor neuronopathy, type V see distal spinal muscular atrophy, type V Hereditary multiple exostoses Hereditary nonpolyposis colorectal cancer DNA mismatch repair dysfunction usually in MSH2 and MLH1 genes usually chromosomes 2 and 3 Hereditary periodic fever syndrome see Mediterranean fever, familial Hereditary Polyposis Coli see familial adenomatous polyposis Hereditary pulmonary emphysema see alpha 1-antitrypsin deficiency Hereditary resistance to activated protein C see factor V Leiden thrombophilia Hereditary sensory and autonomic neuropathy type III see familial dysautonomia Hereditary spastic paraplegia see infantile-onset ascending hereditary spastic paralysis Hereditary spinal ataxia see Friedreich's ataxia Hereditary spinal sclerosis see Friedreich's ataxia Herrick's anemia see sickle cell anemia Heterozygous OSMED see Weissenbacher-Zweymüller syndrome Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome HexA deficiency see Tay-Sachs disease Hexosaminidase A deficiency see Tay-Sachs disease Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease HFE-associated hemochromatosis see hemochromatosis HGPS see Progeria Hippel-Lindau disease see von Hippel-Lindau disease HLAH see hemochromatosis HMN V see distal spinal muscular atrophy, type V HMSN see Charcot-Marie-Tooth disease HNPCC see hereditary nonpolyposis colorectal cancer HNPP see hereditary neuropathy with liability to pressure palsies homocystinuria Homogentisic acid oxidase deficiency see alkaptonuria Homogentisic acidura see alkaptonuria Homozygous porphyria cutanea tarda see hepatoerythropoietic porphyria HP1 see hyperoxaluria, primary HP2 see hyperoxaluria, primary HPA see hyperphenylalaninemia HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome HSAN type III see familial dysautonomia HSAN3 see familial dysautonomia HSN-III see familial dysautonomia Human dermatosparaxis see Ehlers–Danlos syndrome#dermatosparaxis type Huntington's disease T 4p16.3 Hutchinson-Gilford progeria syndrome see progeria Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency see 21-hydroxylase deficiency Hyperchylomicronemia, familial see lipoprotein lipase deficiency, familial Hyperglycinemia with ketoacidosis and leukopenia see propionic acidemia Hyperlipoproteinemia type I see lipoprotein lipase deficiency, familial hyperoxaluria, primary hyperphenylalaninaemia see hyperphenylalaninemia hyperphenylalaninemia Hypochondrodysplasia see hypochondroplasia Hypochondrogenesis Hypochondroplasia 4p16.3 Hypochromic anemia see X-linked sideroblastic anemia Hypocupremia, congenital see Menkes disease Hypoxanthine phosphoribosyltransferse (HPRT) deficiency see Lesch-Nyhan syndrome IAHSP see infantile-onset ascending hereditary spastic paralysis ICF syndrome see Immunodeficiency, centromere instability and facial anomalies syndrome 20q11.2 Idiopathic hemochromatosis see hemochromatosis, type 3 Idiopathic neonatal hemochromatosis see hemochromatosis, neonatal Idiopathic pulmonary hypertension see primary pulmonary hypertension Immune system disorders see X-linked severe combined immunodeficiency Incontinentia pigmenti P Xq28 Infantile cerebral Gaucher's disease see Gaucher disease type 2 Infantile Gaucher disease see Gaucher disease type 2 infantile-onset ascending hereditary spastic paralysis Infertility inherited emphysema see alpha 1-antitrypsin deficiency Inherited human transmissible spongiform encephalopathies see prion disease inherited tendency to pressure palsies see hereditary neuropathy with liability to pressure palsies Insley-Astley syndrome see otospondylomegaepiphyseal dysplasia Intermittent acute porphyria syndrome see acute intermittent porphyria Intestinal polyposis-cutaneous pigmentation syndrome see Peutz–Jeghers syndrome IP see incontinentia pigmenti Iron storage disorder see hemochromatosis Isodicentric 15 see isodicentric 15 Inv dup 15q11-14 Isolated deafness see nonsyndromic deafness Jackson-Weiss syndrome JH see Haemochromatosis#type 2 Joubert syndrome JPLS see Juvenile Primary Lateral Sclerosis ALS2 juvenile amyotrophic lateral sclerosis see Amyotrophic lateral sclerosis#type 2 Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome JWS see Jackson-Weiss syndrome KD see X-linked spinal-bulbar muscle atrophy Kennedy disease see X-linked spinal-bulbar muscle atrophy Kennedy spinal and bulbar muscular atrophy see X-linked spinal-bulbar muscle atrophy Kerasin histiocytosis see Gaucher disease Kerasin lipoidosis see Gaucher disease Kerasin thesaurismosis see Gaucher disease ketotic glycinemia see propionic acidemia ketotic hyperglycinemia see propionic acidemia Kidney diseases see hyperoxaluria, primary Klinefelter syndrome Klinefelter syndrome see Klinefelter syndrome Kniest dysplasia Krabbe disease Lacunar dementia see CADASIL syndrome Langer-Saldino achondrogenesis see achondrogenesis, type II Langer-Saldino dysplasia see achondrogenesis, type II Late-onset Alzheimer disease see Alzheimer disease#type 2 Late-onset familial Alzheimer disease (AD2) see Alzheimer disease#type 2 late-onset Krabbe disease (LOKD) see Krabbe disease Learning Disorders see Learning disability Lentiginosis, perioral see Peutz-Jeghers syndrome Lesch-Nyhan syndrome Leukodystrophies leukodystrophy with Rosenthal fibers see Alexander disease Leukodystrophy, spongiform see Canavan disease LFS see Li-Fraumeni syndrome Li-Fraumeni syndrome Lipase D deficiency see lipoprotein lipase deficiency, familial LIPD deficiency see lipoprotein lipase deficiency, familial Lipidosis, cerebroside see Gaucher disease Lipidosis, ganglioside, infantile see Tay-Sachs disease Lipoid histiocytosis (kerasin type) see Gaucher disease lipoprotein lipase deficiency, familial Liver diseases see galactosemia Lou Gehrig disease see amyotrophic lateral sclerosis Louis-Bar syndrome see ataxia telangiectasia Lynch syndrome see hereditary nonpolyposis colorectal cancer Lysyl-hydroxylase deficiency see Ehlers–Danlos syndrome#kyphoscoliosis type Machado-Joseph disease see Spinocerebellar ataxia#type 3 Male breast cancer see breast cancer Male genital disorders Male Turner syndrome see Noonan syndrome Malignant neoplasm of breast see breast cancer malignant tumor of breast see breast cancer Malignant tumor of urinary bladder see bladder cancer Mammary cancer see breast cancer Marfan syndrome 15 Marker X syndrome see fragile X syndrome Martin-Bell syndrome see fragile X syndrome McCune–Albright syndrome 20 q13.2-13.3 McLeod syndrome X MEDNIK [5] D AP1S1 Mediterranean Anemia see beta-thalassemia Mediterranean fever, familial Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia Menkea syndrome see Menkes disease Menkes disease Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome Metabolic disorders Metatropic dwarfism, type II see Kniest dysplasia Metatropic dysplasia type II see Kniest dysplasia Methemoglobinemia#beta-globin type methylmalonic acidemia MFS see Marfan syndrome MHAM see Cowden syndrome MK see Menkes disease Micro syndrome 2q21.3 Microcephaly P 1q31 (ASPM) MMA see methylmalonic acidemia MNK see Menkes disease Monosomy 1p36 syndrome see 1p36 deletion syndrome D 1p36 monosomy X see Turner syndrome Motor neuron disease, amyotrophic lateral sclerosis see amyotrophic lateral sclerosis Movement disorders Mowat-Wilson syndrome Mucopolysaccharidosis (MPS I) Mucoviscidosis see cystic fibrosis Muenke syndrome Multi-Infarct dementia see CADASIL syndrome Multiple carboxylase deficiency, late-onset see biotinidase deficiency Multiple hamartoma syndrome see Cowden syndrome Multiple neurofibromatosis see neurofibromatosis Muscular dystrophy Muscular dystrophy, Duchenne and Becker type Myotonia atrophica see myotonic dystrophy Myotonia dystrophica see myotonic dystrophy myotonic dystrophy Myxedema, congenital see congenital hypothyroidism Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia NBIA1 see pantothenate kinase-associated neurodegeneration Neill-Dingwall syndrome see Cockayne syndrome Neuroblastoma, retinal see retinoblastoma Neurodegeneration with brain iron accumulation type 1 see pantothenate kinase-associated neurodegeneration Neurofibromatosis type I 17q11.2 Neurofibromatosis type II Neurologic diseases Neuromuscular disorders neuronopathy, distal hereditary motor, type V see Distal spinal muscular atrophy#type V neuronopathy, distal hereditary motor, with pyramidal features see Amyotrophic lateral sclerosis#type 4 Niemann-Pick see Niemann–Pick disease NPA, NPB, NPC1, NPC2, Sphingomyelin phosphodiesterase 1 SMPD1 Noack syndrome see Pfeiffer syndrome Nonketotic hyperglycinemia see Glycine encephalopathy Non-neuronopathic Gaucher disease see Gaucher disease type 1 Non-phenylketonuric hyperphenylalaninemia see tetrahydrobiopterin deficiency nonsyndromic deafness Noonan syndrome Norrbottnian Gaucher disease see Gaucher disease type 3 Ochronosis see alkaptonuria Ochronotic arthritis see alkaptonuria OI see osteogenesis imperfecta Osler-Weber-Rendu disease see Hereditary hemorrhagic telangiectasia OSMED see otospondylomegaepiphyseal dysplasia osteogenesis imperfecta Osteopsathyrosis see osteogenesis imperfecta Osteosclerosis congenita see achondroplasia Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia otospondylomegaepiphyseal dysplasia Oxalosis see hyperoxaluria, primary Oxaluria, primary see hyperoxaluria, primary pantothenate kinase-associated neurodegeneration Patau Syndrome (Trisomy 13) PBGD deficiency see acute intermittent porphyria PCC deficiency see propionic acidemia PCT see porphyria cutanea tarda PDM see Myotonic dystrophy#type 2 Pendred syndrome Periodic disease see Mediterranean fever, familial Periodic peritonitis see Mediterranean fever, familial Periorificial lentiginosis syndrome see Peutz-Jeghers syndrome Peripheral nerve disorders see familial dysautonomia Peripheral neurofibromatosis see neurofibromatosis type I Peroneal muscular atrophy see Charcot-Marie-Tooth disease peroxisomal alanine:glyoxylate aminotransferase deficiency see hyperoxaluria, primary Peutz-Jeghers syndrome Pfeiffer syndrome Phenylalanine hydroxylase deficiency disease see phenylketonuria phenylketonuria Pheochromocytoma see von Hippel-Lindau disease Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome Pigmentary cirrhosis see hemochromatosis PJS see Peutz-Jeghers syndrome PKAN see pantothenate kinase-associated neurodegeneration PKU see phenylketonuria Plumboporphyria see ALA deficiency porphyria PMA see Charcot-Marie-tooth disease Polycystic kidney disease P 16 (PKD1) or 4 (PKD2) polyostotic fibrous dysplasia see McCune–Albright syndrome 20 q13.2-13.3 polyposis coli see familial adenomatous polyposis polyposis, hamartomatous intestinal see Peutz-Jeghers syndrome polyposis, intestinal, II see Peutz-Jeghers syndrome polyps-and-spots syndrome see Peutz-Jeghers syndrome Porphobilinogen synthase deficiency see ALA deficiency porphyria porphyria porphyrin disorder see porphyria PPH see primary pulmonary hypertension PPOX deficiency see variegate porphyria Prader-Labhart-Willi syndrome see Prader-Willi syndrome Prader-Willi syndrome presenile and senile dementia see Alzheimer's disease primary hemochromatosis see hemochromatosis primary hyperuricemia syndrome see Lesch-Nyhan syndrome primary pulmonary hypertension primary senile degenerative dementia see Alzheimer's disease prion disease procollagen type EDS VII, mutant see Ehlers–Danlos syndrome#arthrochalasia type progeria see Hutchinson Gilford Progeria Syndrome Progeria-like syndrome see Cockayne syndrome progeroid nanism see Cockayne syndrome progressive chorea, chronic hereditary (Huntington) see Huntington's disease progressive muscular atrophy see spinal muscular atrophy progressively deforming osteogenesis imperfecta with normal sclerae see Osteogenesis imperfecta#Type III PROMM see Myotonic dystrophy#type 2 propionic acidemia propionyl-CoA carboxylase deficiency see propionic acidemia protein C deficiency protein S deficiency protoporphyria see erythropoietic protoporphyria protoporphyrinogen oxidase deficiency see variegate porphyria proximal myotonic dystrophy see Myotonic dystrophy#type 2 proximal myotonic myopathy see Myotonic dystrophy#type 2 pseudo-Gaucher disease pseudo-Ullrich-Turner syndrome see Noonan syndrome pseudoxanthoma elasticum psychosine lipidosis see Krabbe disease pulmonary arterial hypertension see primary pulmonary hypertension pulmonary hypertension see primary pulmonary hypertension PWS see Prader-Willi syndrome PXE - pseudoxanthoma elasticum see pseudoxanthoma elasticum Rb see retinoblastoma Recklinghausen disease, nerve see neurofibromatosis type I Recurrent polyserositis see Mediterranean fever, familial Retinal disorders Retinitis pigmentosa-deafness syndrome see Usher syndrome Retinoblastoma Rett syndrome RFALS type 3 see Amyotrophic lateral sclerosis#type 2 Ricker syndrome see Myotonic dystrophy#type 2 Riley-Day syndrome see familial dysautonomia Roussy-Levy syndrome see Charcot-Marie-Tooth disease RSTS see Rubinstein-Taybi syndrome RTS see Rett syndrome see Rubinstein-Taybi syndrome RTT see Rett syndrome Rubinstein-Taybi syndrome Sack-Barabas syndrome see Ehlers–Danlos syndrome, vascular type SADDAN sarcoma family syndrome of Li and Fraumeni see Li-Fraumeni syndrome sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome see Li-Fraumeni syndrome SBLA syndrome see Li-Fraumeni syndrome SBMA see X-linked spinal-bulbar muscle atrophy SCD see sickle cell anemia Schwannoma, acoustic, bilateral see neurofibromatosis type II Schwartz–Jampel syndrome SCIDX1 see X-linked severe combined immunodeficiency sclerosis tuberosa see tuberous sclerosis SDAT see Alzheimer's disease SED congenita see spondyloepiphyseal dysplasia congenita SED Strudwick see spondyloepimetaphyseal dysplasia, Strudwick type SEDc see spondyloepiphyseal dysplasia congenita SEMD, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type senile dementia see Alzheimer disease#type 2 severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN Shprintzen syndrome see 22q11.2 deletion syndrome D 22q sickle cell anemia D 18q Siderius X-linked mental retardation syndrome caused by mutations in the PHF8 gene PD Xp11.22 skeleton-skin-brain syndrome see SADDAN Skin pigmentation disorders SMA see spinal muscular atrophy SMED, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type SMED, type I see spondyloepimetaphyseal dysplasia, Strudwick type Smith-Lemli-Opitz syndrome Smith Magenis Syndrome South-African genetic porphyria see variegate porphyria spastic paralysis, infantile onset ascending see infantile-onset ascending hereditary spastic paralysis Speech and communication disorders sphingolipidosis, Tay-Sachs see Tay-Sachs disease spinal-bulbar muscular atrophy spinal muscular atrophy spinal muscular atrophy, distal type V see Distal spinal muscular atrophy#type V spinal muscular atrophy, distal, with upper limb predominance see Distal spinal muscular atrophy#type V spinocerebellar ataxia spondyloepimetaphyseal dysplasia, Strudwick type spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia see collagenopathy, types II and XI spondylometaepiphyseal dysplasia congenita, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type spondylometaphyseal dysplasia (SMD) see spondyloepimetaphyseal dysplasia, Strudwick type spondylometaphyseal dysplasia, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type spongy degeneration of central nervous system see Canavan disease spongy degeneration of the brain see Canavan disease spongy degeneration of white matter in infancy see Canavan disease sporadic primary pulmonary hypertension see primary pulmonary hypertension SSB syndrome see SADDAN steely hair syndrome see Menkes disease Steinert disease see myotonic dystrophy Steinert myotonic dystrophy syndrome see myotonic dystrophy Stickler syndrome stroke see CADASIL syndrome Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type subacute neuronopathic Gaucher disease see Gaucher disease type 3 Swedish genetic porphyria see acute intermittent porphyria Swedish porphyria see acute intermittent porphyria Swiss cheese cartilage dysplasia see Kniest dysplasia Tay-Sachs disease TD - thanatophoric dwarfism see thanatophoric dysplasia TD with straight femurs and cloverleaf skull see thanatophoric dysplasia#Type 2 Telangiectasia, cerebello-oculocutaneous see ataxia telangiectasia Testicular feminization syndrome see androgen insensitivity syndrome tetrahydrobiopterin deficiency TFM - testicular feminization syndrome see androgen insensitivity syndrome thalassemia intermedia see beta-thalassemia Thalassemia Major see beta-thalassemia thanatophoric dysplasia Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type see factor V Leiden thrombophilia Thyroid disease Tomaculous neuropathy see hereditary neuropathy with liability to pressure palsies Total HPRT deficiency see Lesch-Nyhan syndrome Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome Transmissible dementias see prion disease Transmissible spongiform encephalopath |
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