مستخدم:Chaos/قائمة العيوب الجينية
من ويكيبيديا، الموسوعة الحرة
[تحرير] Common disorders
| Disorder | Mutation | Chromosome | 
|---|---|---|
| Angelman syndrome | DCP | 15 | 
| Canavan disease | ||
| Charcot-Marie-Tooth disease | ||
| color blindness | P | X | 
| Cystic fibrosis | P | |
| Down syndrome | C | 21 | 
| Hemophilia | P | X | 
| Joubert syndrome | ||
| Klinefelter syndrome | C | X | 
| Neurofibromatosis | ||
| Pelizaeus-Merzbacher disease | ||
| phenylketonuria | P | |
| Prader-Willi syndrome | DC | 15 | 
| Spina bifida | P | 1 | 
| Tay-Sachs disease | P | |
| Turner syndrome | C | X | 
Legend:
- 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
[تحرير] Full list
فهرست: أعلى - 0-9 | ا | ب | ت | ث | ج | ح | خ | د | ذ | ر | ز | س | ش | ص | ض | ط | ظ | ع | غ | ف | ق | ك | ل | م | ن | ه | و | ي
[تحرير] 0–9
| Disorder | Mutation | Chromosome | 
|---|---|---|
| 21-hydroxylase deficiency | ||
| 45,X see Turner syndrome | ||
| 47,XX,+21 see Down syndrome | ||
| 47,XXX see triple X syndrome | ||
| 47,XXY see Klinefelter syndrome | ||
| 47,XY,+21 see Down syndrome | ||
| 47,XYY syndrome | ||
| 5-ALA dehydratase-deficient porphyria see ALAD deficiency porphyria | ||
| 5-aminolaevulinic dehydratase deficiency porphyria see ALAD deficiency porphyria | ||
| 5p deletion syndrome see Cri du chat | ||
| 5p- syndrome see Cri du chat | 
[تحرير] A
| Disorder | Mutation | Chromosome | 
|---|---|---|
| A-T see ataxia-telangiectasia | ||
| AAT see alpha-1 antitrypsin deficiency | ||
| Absence of vas deferens see congenital bilateral absence of vas deferens | ||
| Absent vasa see congenital bilateral absence of vas deferens | ||
| ACG2 see achondrogenesis, type II | ||
| ACH see achondroplasia | ||
| achondrogenesis, type II | ||
| achondroplasia | ||
| 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 | ||
| Adelaide-type craniosynostosis see Muenke syndrome | ||
| Adenomatous Polyposis Coli see familial adenomatous polyposis | ||
| Adenomatous Polyposis of the Colon see familial adenomatous polyposis | ||
| ADP see ALAD deficiency porphyria | ||
| Adrenal Gland Disorders see 21-hydroxylase deficiency | ||
| Adrenogenital syndrome see 21-hydroxylase deficiency | ||
| AIP see acute intermittent porphyria | ||
| AIS see androgen insensitivity syndrome | ||
| AKU see alkaptonuria | ||
| ALA dehydratase porphyria see ALAD deficiency porphyria | ||
| ALA-D porphyria see ALAD deficiency porphyria | ||
| ALAD deficiency porphyria | ||
| Alcaptonuria see alkaptonuria | ||
| Alexander disease | ||
| alkaptonuria | ||
| Alkaptonuric ochronosis see alkaptonuria | ||
| alpha-1 antitrypsin deficiency | ||
| alpha-1 proteinase inhibitor see alpha-1 antitrypsin deficiency | ||
| alpha-1 related emphysema see alpha-1 antitrypsin deficiency | ||
| Alpha-galactosidase A deficiency see Fabry disease | ||
| ALS see amyotrophic lateral sclerosis | ||
| Alström syndrome | ||
| ALX see Alexander disease | ||
| Alzheimer disease | ||
| Alzheimer's disease see Alzheimer disease | ||
| Amelogenesis Imperfecta see Amelogenesis imperfecta | ||
| Amino levulinic acid dehydratase deficiency see ALAD deficiency porphyria | ||
| Aminoacylase 2 deficiency see Canavan disease | ||
| amyotrophic lateral sclerosis | ||
| Anderson-Fabry disease see Fabry disease | ||
| androgen insensitivity syndrome | ||
| Anemia | ||
| Anemia, hereditary sideroblastic see X-linked sideroblastic anemia | ||
| Anemia, sex-linked hypochromic sideroblastic see X-linked sideroblastic anemia | ||
| Anemia, splenic, familial see Gaucher disease | ||
| Angelman syndrome | ||
| Angiokeratoma Corporis Diffusum see Fabry disease | ||
| Angiokeratoma diffuse see Fabry disease | ||
| Angiomatosis retinae see von Hippel-Lindau disease | ||
| ANH1 see X-linked sideroblastic anemia | ||
| 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 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 | 
[تحرير] B
| Disorder | Mutation | Chromosome | 
|---|---|---|
| B variant GM2 gangliosidosis see Tay-Sachs disease | ||
| BANF see neurofibromatosis 2 | ||
| Beare-Stevenson cutis gyrata syndrome | ||
| Benign paroxysmal peritonitis see Mediterranean fever, familial | ||
| beta thalassemia | ||
| BH4 Deficiency see tetrahydrobiopterin deficiency | ||
| Bilateral Acoustic Neurofibromatosis see neurofibromatosis 2 | ||
| biotinidase deficiency | ||
| bladder cancer | ||
| Bleeding Disorders see factor V Leiden thrombophilia | ||
| Bloch-Sulzberger syndrome see incontinentia pigmenti | ||
| 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 spinal and bulbar muscular atrophy | ||
| Burger-Grutz syndrome see lipoprotein lipase deficiency, familial | 
[تحرير] C
| Disorder | Mutation | Chromosome | 
|---|---|---|
| CADASIL | ||
| Canavan disease | ||
| Cancer | ||
| Cancer Family syndrome see hereditary nonpolyposis colorectal cancer | ||
| Cancer of breast see breast cancer | ||
| Cancer of the bladder see bladder cancer | ||
| Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency | ||
| Cardiomyopathy see Noonan syndrome | ||
| Carpal Tunnel syndrome see hereditary neuropathy with liability to pressure palsies | ||
| Cat cry syndrome see Cri du chat | ||
| CAVD see congenital bilateral absence of vas deferens | ||
| CBAVD see congenital bilateral absence of vas deferens | ||
| CEP see congenital erythropoietic porphyria | ||
| Ceramide trihexosidase deficiency see Fabry disease | ||
| Cerebelloretinal Angiomatosis, familial see von Hippel-Lindau disease | ||
| Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy see CADASIL | ||
| Cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy see CADASIL | ||
| cerebral sclerosis see tuberous sclerosis | ||
| Cerebroatrophic Hyperammonemia see Rett syndrome | ||
| Cerebroside Lipidosis syndrome see Gaucher disease | ||
| CF see cystic fibrosis | ||
| 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 | ||
| Classic Galactosemia see galactosemia | ||
| 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 | ||
| 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 | ||
| 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, beta-globin type | ||
| Congenital osteosclerosis see achondroplasia | ||
| Congenital sideroblastic anaemia see X-linked sideroblastic anemia | ||
| Connective Tissue Disorders | ||
| Cooley's Anemia see beta thalassemia | ||
| Copper storage disease see Wilson disease | ||
| Copper transport disease see Menkes syndrome | ||
| 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 | ||
| Crouzon syndrome | ||
| 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 | ||
| cystic fibrosis | 
[تحرير] D
| Disorder | Mutation | Chromosome | 
|---|---|---|
| D-glycerate dehydrogenase deficiency see hyperoxaluria, primary | ||
| Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type | ||
| DAT - Dementia Alzheimer's type see Alzheimer disease | ||
| 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 | ||
| Degenerative Nerve diseases | ||
| Dejerine-Sottas syndrome see Charcot-Marie-Tooth disease | ||
| Delta-aminolevulinate dehydratase deficiency porphyria see ALAD deficiency porphyria | ||
| Dementia see CADASIL | ||
| 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 | ||
| Diffuse Globoid Body Sclerosis see Krabbe disease | ||
| Dihydrotestosterone receptor deficiency see androgen insensitivity syndrome | ||
| distal spinal muscular atrophy, type V | ||
| DM1 see myotonic dystrophy, type 1 | ||
| DM2 see myotonic dystrophy, type 2 | ||
| Down syndrome | ||
| 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 types | ||
| Dwarf, achondroplastic see achondroplasia | ||
| Dwarf, thanatophoric see thanatophoric dysplasia | ||
| Dwarfism | ||
| Dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome | ||
| dysmyelinogenic leukodystrophy see Alexander disease | ||
| Dystrophia myotonica see myotonic dystrophy | ||
| dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome | 
[تحرير] E
| Disorder | Mutation | Chromosome | 
|---|---|---|
| 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 ataxia | 
[تحرير] F
| Disorder | Mutation | Chromosome | 
|---|---|---|
| Fabry disease | ||
| Facial Injuries and Disorders | ||
| factor V Leiden thrombophilia | ||
| FALS see amyotrophic lateral sclerosis | ||
| familial Acoustic Neuromas see neurofibromatosis 2 | ||
| familial adenomatous polyposis | ||
| familial Alzheimer disease (FAD) see Alzheimer 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 | ||
| FAP see familial adenomatous polyposis | ||
| FD see familial dysautonomia | ||
| Female Pseudo-Turner syndrome see Noonan syndrome | ||
| Ferrochelatase deficiency see erythropoietic protoporphyria | ||
| ferroportin disease see hemochromatosis, type 4 | ||
| Fever see Mediterranean fever, familial | ||
| FGFR3-associated coronal synostosis see Muenke syndrome | ||
| fibrinoid degeneration of astrocytes see Alexander disease | ||
| Fibrocystic disease of Pancreas see cystic fibrosis | ||
| FMF see Mediterranean fever, familial | ||
| Folling disease see phenylketonuria | ||
| fra(X) syndrome see fragile X syndrome | ||
| fragile X syndrome | ||
| Fragilitas ossium see osteogenesis imperfecta | ||
| FRAXA syndrome see fragile X syndrome | ||
| FRDA see Friedreich ataxia | ||
| Friedreich ataxia | ||
| FXS see fragile X syndrome | 
[تحرير] G
| Disorder | Mutation | Chromosome | 
|---|---|---|
| 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's disease | ||
| Gaucher-Like disease see pseudo-Gaucher disease | ||
| GBA deficiency see Gaucher disease, type 1 | ||
| GD see Gaucher disease | ||
| Genetic Brain Disorders | ||
| genetic emphysema see alpha-1 antitrypsin deficiency | ||
| genetic hemochromatosis see hemochromatosis | ||
| Giant cell hepatitis, neonatal see hemochromatosis, neonatal | ||
| 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 | ||
| 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 | 
[تحرير] H
| Disorder | Mutation | Chromosome | 
|---|---|---|
| Haemochromatosis see hemochromatosis | ||
| Hallgren syndrome see Usher syndrome | ||
| 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 | ||
| hereditary dystopic lipidosis see Fabry disease | ||
| hereditary Hemochromatosis (HHC) see hemochromatosis | ||
| 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 neuropathy with liability to pressure palsies | ||
| hereditary nonpolyposis colorectal cancer | DNA mismatch repair dysfunction usually in MSH2 and MLH1 genes | usually chromosomes 2 and 3 | 
| hereditary Periodic Fever syndromes 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 ataxia | ||
| hereditary Spinal Sclerosis see Friedreich 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 Hutchinson-Gilford progeria syndrome | ||
| 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 disease | ||
| Huntington's disease see Huntington disease | ||
| Hutchinson-Gilford progeria syndrome | ||
| 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 | ||
| Hypochromic anemia see X-linked sideroblastic anemia | ||
| Hypocupremia, Congenital see Menkes syndrome | ||
| hypoxanthine phosphoribosyltransferse (HPRT) deficiency see Lesch-Nyhan syndrome | 
[تحرير] I
| Disorder | Mutation | Chromosome | 
|---|---|---|
| IAHSP see infantile-onset ascending hereditary spastic paralysis | ||
| idiopathic hemochromatosis see hemochromatosis, type 3 | ||
| Idiopathic neonatal hemochromatosis see hemochromatosis, neonatal | ||
| Idiopathic pulmonary hypertension see primary pulmonary hypertension | ||
| Immune System and Disorders see X-linked severe combined immunodeficiency | ||
| incontinentia pigmenti | ||
| 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 | ||
| Isolated deafness see nonsyndromic deafness | 
[تحرير] J
| Disorder | Mutation | Chromosome | 
|---|---|---|
| Jackson-Weiss syndrome | ||
| JH see hemochromatosis, type 2 | ||
| JPLS see primary lateral sclerosis, juvenile | ||
| 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 | ||
| juvenile PLS see primary lateral sclerosis, juvenile | ||
| JWS see Jackson-Weiss syndrome | 
[تحرير] K
| Disorder | Mutation | Chromosome | 
|---|---|---|
| KD see spinal and bulbar muscular atrophy | ||
| Kennedy disease see spinal and bulbar muscular atrophy | ||
| Kennedy spinal and bulbar muscular atrophy see spinal and bulbar muscular 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 | ||
| Kinky Hair syndrome see Menkes syndrome | ||
| Klinefelter syndrome | ||
| Klinefelter's syndrome see Klinefelter syndrome | ||
| Kniest dysplasia | ||
| Krabbe disease | 
[تحرير] L
| Disorder | Mutation | Chromosome | 
|---|---|---|
| Lacunar Dementia see CADASIL | ||
| 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 | ||
| 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 | 
[تحرير] M
| Disorder | Mutation | Chromosome | 
|---|---|---|
| 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 | ||
| Marker X syndrome see fragile X syndrome | ||
| Martin-Bell syndrome see fragile X syndrome | ||
| Mediterranean Anemia see beta thalassemia | ||
| Mediterranean fever, familial | ||
| Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia | ||
| Menkea syndrome see Menkes syndrome | ||
| Menkes syndrome | ||
| 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 - Menkes syndrome see Menkes syndrome | ||
| Microcephaly | P | 1q31 (ASPM) | 
| MMA see methylmalonic acidemia | ||
| MNK - Menkes syndrome see Menkes syndrome | ||
| monosomy X see Turner syndrome | ||
| Motor Neuron disease, Amyotrophic Lateral Sclerosis see amyotrophic lateral sclerosis | ||
| Movement Disorders | ||
| Mucoviscidosis see cystic fibrosis | ||
| Muenke syndrome | ||
| Multi-Infarct Dementia see CADASIL | ||
| 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 types | ||
| Myotonia atrophica see myotonic dystrophy | ||
| Myotonia dystrophica see myotonic dystrophy | ||
| myotonic dystrophy | ||
| Myxedema, Congenital see congenital hypothyroidism | 
[تحرير] N
| Disorder | Mutation | Chromosome | 
|---|---|---|
| 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 | ||
| 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 | ||
| NF see neurofibromatosis | ||
| Noack syndrome see Pfeiffer syndrome | ||
| 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 | 
[تحرير] O
| Disorder | Mutation | Chromosome | 
|---|---|---|
| Ochronosis see alkaptonuria | ||
| Ochronotic arthritis see alkaptonuria | ||
| OI see osteogenesis imperfecta | ||
| 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 | 
[تحرير] P
| Disorder | Mutation | Chromosome | 
|---|---|---|
| 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 1 | ||
| 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 | ||
| PLSJ see primary lateral sclerosis, juvenile | ||
| Plumboporphyria see ALAD deficiency porphyria | ||
| PMA see Charcot-Marie-Tooth disease | ||
| 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 ALAD 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 disease | ||
| Primary Hemochromatosis see hemochromatosis | ||
| primary hyperuricemia syndrome see Lesch-Nyhan syndrome | ||
| primary lateral sclerosis, juvenile | ||
| primary pulmonary hypertension | ||
| Primary Senile Degenerative Dementia see Alzheimer 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 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 | 
[تحرير] R
| Disorder | Mutation | Chromosome | 
|---|---|---|
| Rb see retinoblastoma | ||
| Recklinghausen disease, Nerve see neurofibromatosis 1 | ||
| 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 | 
[تحرير] S
| Disorder | Mutation | Chromosome | 
|---|---|---|
| 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 spinal and bulbar muscular atrophy | ||
| SCD see sickle cell anemia | ||
| Schwannoma, Acoustic, Bilateral see neurofibromatosis 2 | ||
| SCIDX1 see X-linked severe combined immunodeficiency | ||
| sclerosis tuberosa see tuberous sclerosis | ||
| SDAT see Alzheimer 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 | ||
| sickle cell anemia | ||
| 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 | ||
| 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 and 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 syndrome | ||
| Steinert disease see myotonic dystrophy | ||
| Steinert myotonic dystrophy syndrome see myotonic dystrophy | ||
| Stickler syndrome | ||
| Stroke see CADASIL | ||
| 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 | 
[تحرير] T
| Disorder | Mutation | Chromosome | 
|---|---|---|
| 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 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 diseases | ||
| 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 Encephalopathies see prion disease | ||
| Trias fragilitis ossium see osteogenesis imperfecta, type I | ||
| triple X syndrome | ||
| Triplo X syndrome see triple X syndrome | ||
| Trisomy 21 see Down syndrome | ||
| Trisomy X see triple X syndrome | ||
| Troisier-Hanot-Chauffard syndrome see hemochromatosis | ||
| TS see Turner syndrome | ||
| TSD see Tay-Sachs disease | ||
| TSEs see prion disease | ||
| tuberose sclerosis see tuberous sclerosis | ||
| tuberous sclerosis | ||
| Turner syndrome | ||
| Turner syndrome in female with X chromosome see Noonan syndrome | ||
| Turner's phenotype, karyotype normal see Noonan syndrome | ||
| Turner's syndrome see Turner syndrome | ||
| Turner-like syndrome see Noonan syndrome | ||
| Type 2 Gaucher disease see Gaucher disease, type 2 | ||
| Type 3 Gaucher disease see Gaucher disease, type 3 | 
[تحرير] U
| Disorder | Mutation | Chromosome | 
|---|---|---|
| UDP-Galactose-4-Epimerase Deficiency disease see galactosemia | ||
| UDPglucose 4-Epimerase Deficiency disease see galactosemia | ||
| UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia | ||
| Ullrich-Noonan syndrome see Noonan syndrome | ||
| Ullrich-Turner syndrome see Turner syndrome | ||
| Undifferentiated deafness see nonsyndromic deafness | ||
| UPS deficiency see acute intermittent porphyria | ||
| Urinary bladder cancer see bladder cancer | ||
| UROD deficiency see porphyria cutanea tarda | ||
| Uroporphyrinogen decarboxylase deficiency see porphyria cutanea tarda | ||
| Uroporphyrinogen synthase deficiency see acute intermittent porphyria | ||
| UROS deficiency see congenital erythropoietic porphyria | ||
| Usher syndrome | ||
| UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia | 
[تحرير] V
| Disorder | Mutation | Chromosome | 
|---|---|---|
| Van Bogaert-Bertrand syndrome see Canavan disease | ||
| Van der Hoeve syndrome see osteogenesis imperfecta, type I | ||
| variegate porphyria | ||
| VHL syndrome see von Hippel-Lindau disease | ||
| Vision Impairment and Blindness see Alström syndrome | ||
| Von Bogaert-Bertrand disease see Canavan disease | ||
| von Hippel-Lindau disease | ||
| Von Recklenhausen-Applebaum disease see hemochromatosis | ||
| von Recklinghausen disease see neurofibromatosis 1 | ||
| VP see variegate porphyria | ||
| Vrolik disease see osteogenesis imperfecta | 
[تحرير] W
| Disorder | Mutation | Chromosome | 
|---|---|---|
| Waardenburg syndrome | ||
| WD - Wilson's disease see Wilson disease | ||
| Weissenbacher-Zweymüller syndrome | ||
| Wilson disease | ||
| Wilson's disease see Wilson disease | ||
| Wolff Periodic disease see Mediterranean fever, familial | ||
| WZS see Weissenbacher-Zweymüller syndrome | 
[تحرير] X
| Disorder | Mutation | Chromosome | 
|---|---|---|
| X-linked mental retardation and macroorchidism see fragile X syndrome | ||
| X-linked primary hyperuricemia see Lesch-Nyhan syndrome | ||
| X-linked severe combined immunodeficiency | ||
| X-linked sideroblastic anemia | ||
| X-linked spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy | ||
| X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome | ||
| X-SCID see X-linked severe combined immunodeficiency | ||
| XLSA see X-linked sideroblastic anemia | ||
| XSCID see X-linked severe combined immunodeficiency | ||
| XXX syndrome see triple X syndrome | ||
| XXY syndrome see Klinefelter syndrome | ||
| XXY trisomy see Klinefelter syndrome | ||
| XYY karyotype see 47,XYY syndrome | ||
| XYY syndrome see 47,XYY syndrome | 
[تحرير] Y
| Disorder | Mutation | Chromosome | 
|---|---|---|
| YY syndrome see 47,XYY syndrome | 

