List of genetic disorders
From Self-sufficiency
Contents |
The following is a list of genetic disorders and if known, causal type of mutation and the chromosome involved. The list of human genes includes genes not listed here, which also affect predisposition toward certain diseases.
- P - Point mutation, or any insertion/deletion entirely inside one gene
- D - Deletion of a gene or genes
- C - Whole chromosome extra, missing, or both - see chromosomal aberrations
- T - Trinucleotide repeat disorders - gene is extended in length
More common disorders
| Disorder | Mutation | Chromosome |
|---|---|---|
| 22q11.2 deletion syndrome | D | 22q |
| Angelman syndrome | DCP | 15 |
| Canavan disease | 17p | |
| Celiac disease | ||
| Charcot-Marie-Tooth disease | ||
| Color blindness | P | X |
| Cri du chat | D | 5 |
| Cystic fibrosis | P | 7q |
| Down syndrome | C | 21 |
| Duchenne muscular dystrophy | D | Xp |
| Haemochromatosis | P | 6 |
| Haemophilia | P | X |
| Klinefelter's syndrome | C | X |
| Neurofibromatosis | 17q/22q/? | |
| Phenylketonuria | P | 12q |
| Polycystic kidney disease | P | 16 (PKD1) or 4 (PKD2) |
| Prader-Willi syndrome | DC | 15 |
| Sickle-cell disease | P | 11p |
| Tay-Sachs disease | P | 15 |
| Turner syndrome | C | X |
Full list
| Disorder name | Mutation type | Chromosome |
|---|---|---|
| 1p36 deletion syndrome | D | 1p37 |
| 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's 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 |
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| 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 | ||
| 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 |
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| 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 |
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| Autosomal Recessive Sensorineural Hearing Impairment and Goiter see Pendred syndrome |
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| AxD see Alexander disease |
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| Ayerza syndrome see primary pulmonary hypertension |
||
| B variant of the Hexosaminidase GM2 gangliosidosis see Sandhoff disease |
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| BANF see neurofibromatosis type II |
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| Beare-Stevenson cutis gyrata syndrome | 10q26 | |
| Benign paroxysmal peritonitis see Mediterranean fever, familial |
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| 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 |
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| 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 |
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| Bourneville phakomatosis see tuberous sclerosis |
||
| Brain diseases see prion disease |
||
| breast cancer | ||
| Birt–Hogg–Dubé syndrome | 17 | |
| Brittle bone disease see osteogenesis imperfecta |
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| 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 |
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| 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 |
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| 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 |
||
| Celiac Disease | ||
| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Copper storage disease see Wilson's disease |
13 (q14.3) | |
| Copper transport disease see Menkes disease |
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| Coproporphyria, hereditary see hereditary coproporphyria |
||
| Coproporphyrinogen oxidase deficiency see hereditary coproporphyria |
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| Cowden syndrome | ||
| CPO deficiency see hereditary coproporphyria |
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| CPRO deficiency see hereditary coproporphyria |
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| CPX deficiency see hereditary coproporphyria |
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| Craniofacial dysarthrosis see Crouzon syndrome |
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| Craniofacial Dysostosis see Crouzon syndrome |
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| Cretinism see congenital hypothyroidism |
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| Creutzfeldt-Jakob disease see prion disease |
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| 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 |
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| Crouzonodermoskeletal syndrome | ||
| CS see Cockayne syndrome see Cowden syndrome |
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| Curschmann-Batten-Steinert syndrome see myotonic dystrophy |
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| cutis gyrata syndrome of Beare-Stevenson see Beare-Stevenson cutis gyrata syndrome |
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| D-glycerate dehydrogenase deficiency see hyperoxaluria, primary |
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| Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type |
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| DAT - Dementia Alzheimer's type see Alzheimer's disease |
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| Genetic hypercalciuria see Dent's disease |
Xp11.22 | |
| DBMD see muscular dystrophy, Duchenne and Becker types |
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| Deafness with goiter see Pendred syndrome |
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| Deafness-retinitis pigmentosa syndrome see Usher syndrome |
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| 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 |
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| Delta-aminolevulinate dehydratase deficiency porphyria see ALA dehydratase deficiency |
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| Dementia see CADASIL syndrome |
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| demyelinogenic leukodystrophy see Alexander disease |
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| Dermatosparactic type of Ehlers-Danlos syndrome see Ehlers-Danlos syndrome#dermatosparaxis type |
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| Dermatosparaxis see Ehlers-Danlos syndrome#dermatosparaxis type |
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| developmental disabilities | ||
| dHMN see Amyotrophic lateral sclerosis#type 4 |
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| DHMN-V see distal spinal muscular atrophy, type V |
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| DHTR deficiency see androgen insensitivity syndrome |
X | |
| Diffuse Globoid Body Sclerosis see Krabbe disease |
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| 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 |
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| DSN see Charcot-Marie-Tooth disease#type 4 |
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| DSS see Charcot-Marie-Tooth disease, type 4 |
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| Duchenne/Becker muscular dystrophy see Muscular dystrophy, Duchenne and Becker type |
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| Dwarf, achondroplastic see achondroplasia |
3 | |
| Dwarf, thanatophoric see thanatophoric dysplasia |
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| Dwarfism | ||
| Dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome |
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| dysmyelinogenic leukodystrophy see Alexander disease |
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| Dystrophia myotonica see myotonic dystrophy |
T | 19 |
| dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome |
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| Early-Onset familial alzheimer disease (EOFAD) see Alzheimer disease#type 1 see Alzheimer disease#type 3 see Alzheimer disease#type 4 |
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| EDS see Ehlers-Danlos syndrome |
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| Ehlers-Danlos syndrome | ||
| Ekman-Lobstein disease see osteogenesis imperfecta |
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| Entrapment neuropathy see hereditary neuropathy with liability to pressure palsies |
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| Epiloia see tuberous sclerosis |
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| EPP see erythropoietic protoporphyria |
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| Erythroblastic anemia see beta-thalassemia |
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| Erythrohepatic protoporphyria see erythropoietic protoporphyria |
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| Erythroid 5-aminolevulinate synthetase deficiency see X-linked sideroblastic anemia |
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| Erythropoietic porphyria see congenital erythropoietic porphyria |
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| erythropoietic protoporphyria | ||
| Erythropoietic uroporphyria see congenital erythropoietic porphyria |
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| Eye cancer see retinoblastoma FA - Friedreich ataxia see Friedreich's ataxia |
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| FA see fanconi anemia |
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| Fabry disease | P | Xq22.1 |
| Facial injuries and disorders | ||
| factor V Leiden thrombophilia | ||
| FALS see amyotrophic lateral sclerosis |
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| familial acoustic neuroma see neurofibromatosis type II |
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| familial adenomatous polyposis | ||
| familial Alzheimer disease (FAD) see Alzheimer's disease |
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| familial amyotrophic lateral sclerosis see amyotrophic lateral sclerosis |
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| familial dysautonomia | ||
| familial fat-induced hypertriglyceridemia see lipoprotein lipase deficiency, familial |
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| familial hemochromatosis see hemochromatosis |
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| familial LPL deficiency see lipoprotein lipase deficiency, familial |
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| familial nonpolyposis colon cancer see hereditary nonpolyposis colorectal cancer |
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| familial paroxysmal polyserositis see Mediterranean fever, familial |
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| familial PCT see porphyria cutanea tarda |
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| familial pressure sensitive neuropathy see hereditary neuropathy with liability to pressure palsies |
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| familial primary pulmonary hypertension (FPPH) see primary pulmonary hypertension |
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| Familial Turner syndrome see Noonan syndrome |
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| familial vascular leukoencephalopathy see CADASIL syndrome |
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| FAP see familial adenomatous polyposis |
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| FD see familial dysautonomia |
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| Female pseudo-Turner syndrome see Noonan syndrome |
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| Ferrochelatase deficiency see erythropoietic protoporphyria |
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| ferroportin disease see Haemochromatosis#type 4 |
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| Fever see Mediterranean fever, familial |
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| FG syndrome | ||
| FGFR3-associated coronal synostosis see Muenke syndrome |
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| Fibrinoid degeneration of astrocytes see Alexander disease |
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| Fibrocystic disease of the pancreas see cystic fibrosis |
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| FMF see Mediterranean fever, familial |
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| Folling disease see phenylketonuria |
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| fra(X) syndrome see fragile X syndrome |
Xq27.3 | |
| fragile X syndrome | Xq27.3 | |
| Fragilitas ossium see osteogenesis imperfecta |
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| FRAXA syndrome see fragile X syndrome |
Xq27.3 | |
| FRDA see Friedreich's ataxia |
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| Friedreich's ataxia see Friedreich's ataxia |
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| Friedreich's ataxia | ||
| FXS see fragile X syndrome |
Xq27.3 | |
| G6PD deficiency | ||
| Galactokinase deficiency disease see galactosemia |
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| Galactose-1-phosphate uridyl-transferase deficiency disease see galactosemia |
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| galactosemia | ||
| Galactosylceramidase deficiency disease see Krabbe disease |
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| Galactosylceramide lipidosis see Krabbe disease |
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| galactosylcerebrosidase deficiency see Krabbe disease |
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| galactosylsphingosine lipidosis see Krabbe disease |
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| GALC deficiency see Krabbe disease |
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| GALT deficiency see galactosemia |
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| Gaucher disease | ||
| Gaucher-like disease see pseudo-Gaucher disease |
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| GBA deficiency see Gaucher disease type 1 |
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| GD see Gaucher's disease |
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| Genetic brain disorders | ||
| genetic emphysema see alpha 1-antitrypsin deficiency |
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| genetic hemochromatosis see hemochromatosis |
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| Giant cell hepatitis, neonatal see Neonatal hemochromatosis |
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| GLA deficiency see Fabry disease |
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| Glioblastoma, retinal see retinoblastoma |
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| Glioma, retinal see retinoblastoma |
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| globoid cell leukodystrophy (GCL, GLD) see Krabbe disease |
||
| globoid cell leukoencephalopathy see Krabbe disease |
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| Glucocerebrosidase deficiency see Gaucher disease |
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| Glucocerebrosidosis see Gaucher disease |
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| Glucosyl cerebroside lipidosis see Gaucher disease |
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| Glucosylceramidase deficiency see Gaucher disease |
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| Glucosylceramide beta-glucosidase deficiency see Gaucher disease |
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| Glucosylceramide lipidosis see Gaucher disease |
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| Glyceric aciduria see hyperoxaluria, primary |
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| Glycine encephalopathy see Nonketotic hyperglycinemia |
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| Glycolic aciduria see hyperoxaluria, primary |
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| GM2 gangliosidosis, type 1 see Tay-Sachs disease |
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| Goiter-deafness syndrome see Pendred syndrome |
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| Graefe-Usher syndrome see Usher syndrome |
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| Gronblad-Strandberg syndrome see pseudoxanthoma elasticum |
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| Guenther porphyria see congenital erythropoietic porphyria |
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| Gunther disease see congenital erythropoietic porphyria |
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| Haemochromatosis see hemochromatosis |
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| Hallgren syndrome see Usher syndrome |
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| Harlequin type ichthyosis | ||
| Hb S disease see sickle cell anemia |
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| HCH see hypochondroplasia |
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| HCP see hereditary coproporphyria |
||
| Head and brain malformations | ||
| Hearing disorders and deafness | ||
| Hearing problems in children | ||
| HEF2A see hemochromatosis#type 2 |
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| HEF2B see hemochromatosis#type 2 |
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| Hematoporphyria see porphyria |
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| Heme synthetase deficiency see erythropoietic protoporphyria |
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| Hemochromatoses see hemochromatosis |
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| hemochromatosis | ||
| hemoglobin M disease see methemoglobinemia#beta-globin type |
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| Hemoglobin S disease see sickle cell anemia |
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| hemophilia | ||
| HEP see hepatoerythropoietic porphyria |
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| hepatic AGT deficiency see hyperoxaluria, primary |
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| hepatoerythropoietic porphyria | ||
| Hepatolenticular degeneration syndrome see Wilson disease |
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| Hereditary arthro-ophthalmopathy see Stickler syndrome |
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| Hereditary coproporphyria | P | 3q12 |
| Hereditary dystopic lipidosis see Fabry disease |
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| Hereditary hemochromatosis (HHC) see hemochromatosis [4] |
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| Hereditary Inclusion Body Myopathy see skeletal muscle regeneration |
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| Hereditary iron-loading anemia see X-linked sideroblastic anemia |
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| Hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease |
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| Hereditary motor neuronopathy see spinal muscular atrophy |
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| Hereditary motor neuronopathy, type V see distal spinal muscular atrophy, type V |
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| 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 |
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| Hereditary Polyposis Coli see familial adenomatous polyposis |
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| Hereditary pulmonary emphysema see alpha 1-antitrypsin deficiency |
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| Hereditary resistance to activated protein C see factor V Leiden thrombophilia |
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| Hereditary sensory and autonomic neuropathy type III see familial dysautonomia |
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| Hereditary spastic paraplegia see infantile-onset ascending hereditary spastic paralysis |
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| Hereditary spinal ataxia see Friedreich's ataxia |
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| Hereditary spinal sclerosis see Friedreich's ataxia |
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| Herrick's anemia see sickle cell anemia |
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| Heterozygous OSMED see Weissenbacher-Zweymüller syndrome |
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| Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome |
||
| HexA deficiency see Tay-Sachs disease |
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| Hexosaminidase A deficiency see Tay-Sachs disease |
||
| Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease |
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| HFE-associated hemochromatosis see hemochromatosis |
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| HGPS see Progeria |
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| Hippel-Lindau disease see von Hippel-Lindau disease |
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| HLAH see hemochromatosis |
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| HMN V see distal spinal muscular atrophy, type V |
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| HMSN see Charcot-Marie-Tooth disease |
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| HNPCC see hereditary nonpolyposis colorectal cancer |
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| 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 |
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| HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome |
||
| HSAN type III see familial dysautonomia |
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| HSAN3 see familial dysautonomia |
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| HSN-III see familial dysautonomia |
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| 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 | ||
| 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 |
||
| 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's syndrome | ||
| Klinefelter's syndrome see Klinefelter's 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 [disambiguation needed File:InterlanguageLinks-Asset-Pencil-Hover.gif], NPB [disambiguation needed File:InterlanguageLinks-Asset-Pencil-Hover.gif], 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 |
||
| 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 |
||
| 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 | ||
| 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 | ||
| thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness | ||
| 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 encephalopathies see prion disease |
||
| Treacher Collins syndrome | 5q32-q33.1 | |
| 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 |
||
| UDP-galactose-4-epimerase deficiency disease see galactosemia |
||
| UDP glucose 4-epimerase deficiency disease see galactosemia |
||
| UDP glucose 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 |
||
| Van Bogaert-Bertrand syndrome see Canavan disease |
||
| Van der Hoeve syndrome see osteogenesis imperfecta#Type I |
||
| variegate porphyria | ||
| Velocardiofacial syndrome see 22q11.2 deletion syndrome |
D | 22q |
| 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 type I |
||
| VP see variegate porphyria |
||
| Vrolik disease see osteogenesis imperfecta |
||
| Waardenburg syndrome | ||
| Warburg Sjo Fledelius Syndrome see Micro syndrome |
2q21.3 | |
| WD see Wilson disease |
||
| Weissenbacher-Zweymüller syndrome | ||
| Williams Syndrome | ||
| Wilson disease | ||
| Wilson's disease see Wilson disease |
||
| Wolf–Hirschhorn syndrome | D | 4p |
| Wolff Periodic disease see Mediterranean fever, familial |
||
| WZS see Weissenbacher-Zweymüller syndrome |
||
| Xeroderma pigmentosum | ERCC4 | 15 |
| 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-bulbar muscle atrophy see Kennedy's disease |
||
| 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 |
||
| XXXX syndrome see 48, XXXX |
||
| XXXXX syndrome see 49, XXXXX |
||
| XXY syndrome see Klinefelter's syndrome |
||
| XXY trisomy see Klinefelter's syndrome |
||
| XYY karyotype see 47,XYY syndrome |
||
| XYY syndrome see 47,XYY syndrome |
||
| YY syndrome see 47,XYY syndrome |
References
es:Lista de enfermedades genéticasfr:Liste des maladies génétiques à gène identifié hu:Genetikai betegségek listája nl:Lijst van erfelijke aandoeningen ja:遺伝子疾患の一覧 ru:Список наследственных заболеваний
