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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Female Pseudo-Turner syndrome see Noonan syndrome |
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| 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 |
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| 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 |
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| 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 |

