View source for List of genetic disorders

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The following is a '''list of [[genetic disorder]]s''' 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 (genetics)|Deletion]] of a gene or genes
*C - Whole chromosome extra, missing, or both - see [[Chromosome#Chromosomal aberrations|chromosomal aberrations]]
*T - [[Trinucleotide repeat disorder]]s - gene is extended in length

'''More common disorders'''

{| border="border" cellpadding=3 style="border-collapse:collapse"
|- bgcolor="#cccccc"
! 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
| [[chromosome 16|16]] ([[PKD1]]) or [[chromosome 4|4]] ([[PKD2]])
|- 
| [[Prader-Willi syndrome]]
| DC
| 15
|- 
| [[Sickle-cell disease]]
| P
| 11p
|- 
| [[Tay-Sachs disease]]
| P
| 15
|- 
| [[Turner syndrome]]
| C
| X
|}

==Full list==
{| class="wikitable sortable" border="1"
|+Sortable table
|-
! Disorder name !! Mutation type !! Chromosome
|-
| [[1p36 deletion syndrome]] || D || |1p37
|-
| [[18p deletion syndrome]] || D || 18p 
|-
| [[21-hydroxylase deficiency]] || || 6p21.3
|-
| 45,X <br><small>''see'' [[Turner syndrome]] </small> || C || X
|-
| 47,XX,+21 <br><small>''see'' [[Down syndrome]] </small> || C || 21
|-
| 47,XXX <br><small>''see'' [[triple X syndrome]] </small> || C || X
|-
| 47,XXY <br><small>''see'' [[Klinefelter's syndrome]] </small> || C || X
|-
| 47,XY,+21 <br><small>''see'' [[Down syndrome]] </small> || C || 21
|-
| [[47,XYY syndrome]] || C || Y
|-
| 5-ALA dehydratase-deficient porphyria <br><small>''see'' [[ALA dehydratase deficiency]] </small> || || 
|-
| 5-aminolaevulinic dehydratase deficiency porphyria <br><small>''see'' [[ALA dehydratase deficiency]] </small> || || 
|-
| 5p deletion syndrome <br><small>''see'' [[Cri du chat]] </small> || D || 5p
|-
| 5p- syndrome <br><small>''see'' [[Cri du chat]] </small> || D || 5p
|-
| A-T <br><small>''see'' [[ataxia telangiectasia]] </small> || || 
|-
| AAT <br><small>''see'' [[alpha 1-antitrypsin deficiency]] </small> || || 
|-
| Absence of vas deferens <br><small>''see'' [[congenital absence of the vas deferens]] </small> || || 
|-
| Absent vasa <br><small>''see'' [[congenital absence of the vas deferens]] </small> || || 
|-
| [[aceruloplasminemia]] || || 
|-
| ACG2 <br><small>''see'' [[achondrogenesis type II]] </small> || || 
|-
| ACH <br><small>''see'' [[achondroplasia]] </small> || || 
|-
| [[Achondrogenesis type II]] || || 
|-
| [[achondroplasia]] || substitution || 4p16.3
|-
| Acid beta-glucosidase deficiency <br><small>''see'' [[Gaucher disease type 1]] </small> || || 
|-
| Acrocephalosyndactyly (Apert) <br><small>''see'' [[Apert syndrome]] </small> || || 
|-
| acrocephalosyndactyly, type V <br><small>''see'' [[Pfeiffer syndrome]] </small> || || 
|-
| Acrocephaly <br><small>''see'' [[Apert syndrome]] </small> || || 
|-
| Acute cerebral Gaucher's disease <br><small>''see'' [[Gaucher disease type 2]] </small> || || 
|-
| [[acute intermittent porphyria]] || || 
|-
| ACY2 deficiency <br><small>''see'' [[Canavan disease]] </small> || || 
|-
| AD <br><small>''see'' [[Alzheimer's disease]] </small> || || 
|-
| Adelaide-type craniosynostosis <br><small>''see'' [[Muenke syndrome]] </small> || || 
|-
| Adenomatous Polyposis Coli <br><small>''see'' [[familial adenomatous polyposis]] </small> || || 
|-
| Adenomatous Polyposis of the Colon <br><small>''see'' [[familial adenomatous polyposis]] </small> || || 
|-
| ADP <br><small>''see'' [[ALA dehydratase deficiency]] </small> || || 
|-
| [[adenylosuccinate lyase deficiency]] || || 
|-
| Adrenal gland disorders <br><small>''see'' [[21-hydroxylase deficiency]] </small> || || 
|-
| Adrenogenital syndrome <br><small>''see'' [[21-hydroxylase deficiency]] </small> || || 
|-
| [[Adrenoleukodystrophy]] || || 
|-
| AIP <br><small>''see'' [[acute intermittent porphyria]] </small> || || 
|-
| AIS <br><small>''see'' [[androgen insensitivity syndrome]] </small> || || 
|-
| AKU <br><small>''see'' [[alkaptonuria]] </small> || || 
|-
| ALA dehydratase porphyria <br><small>''see'' [[ALA dehydratase deficiency]] </small> || || 
|-
| ALA-D porphyria <br><small>''see'' [[ALA dehydratase deficiency]] </small> || || 
|-
| [[ALA dehydratase deficiency]] || || 
|-
| Alcaptonuria <br><small>''see'' [[alkaptonuria]] </small> || || 
|-
| [[Alexander disease]] || || 
|-
| [[alkaptonuria]] || || 
|-
| Alkaptonuric ochronosis <br><small>''see'' [[alkaptonuria]] </small> || || 
|-
| [[alpha 1-antitrypsin deficiency]] || || 
|-
| alpha-1 proteinase inhibitor <br><small>''see'' [[alpha 1-antitrypsin deficiency]] </small> || || 14q32.1
|-
| alpha-1 related emphysema <br><small>''see'' [[alpha 1-antitrypsin deficiency]] </small> || || 14q32.1
|-
| Alpha-galactosidase A deficiency <br><small>''see'' [[Fabry disease]] </small> || P || Xq22.1
|-
| ALS <br><small>''see'' [[amyotrophic lateral sclerosis]] </small> || || 
|-
| [[Alström syndrome]] || || 
|-
| ALX <br><small>''see'' [[Alexander disease]] </small> || || 
|-
| [[Alzheimer's disease]] || || 
|-
| [[Amelogenesis imperfecta]] || || 
|-
| Amino levulinic acid dehydratase deficiency <br><small>''see'' [[ALA dehydratase deficiency]] </small> || || 
|-
| Aminoacylase 2 deficiency <br><small>''see'' [[Canavan disease]] </small> || || 
|-
| [[amyotrophic lateral sclerosis]] || || 
|-
| Anderson-Fabry disease <br><small>''see'' [[Fabry disease]] </small> || P || Xq22.1
|-
| [[androgen insensitivity syndrome]] || || 
|-
| [[Anemia]] || || 
|-
| Anemia, hereditary sideroblastic <br><small>''see'' [[X-linked sideroblastic anemia]] </small> || || X 
|-
| Anemia, sex-linked hypochromic sideroblastic <br><small>''see'' [[X-linked sideroblastic anemia]] </small> || || X
|-
| Anemia, splenic, familial <br><small>''see'' [[Gaucher disease]] </small> || || 
|-
| [[Angelman syndrome]] || || 
|-
| Angiokeratoma Corporis Diffusum <br><small>''see'' [[Fabry disease]] </small> || P || Xq22.1
|-
| Angiokeratoma diffuse <br><small>''see'' [[Fabry disease]] </small> || || 
|-
| Angiomatosis retinae <br><small>''see'' [[von Hippel – Lindau disease]] </small> || || 
|-
| ANH1 <br><small>''see'' [[X-linked sideroblastic anemia]] </small> || || X
|-
| APC resistance, Leiden type <br><small>''see'' [[factor V Leiden thrombophilia]] </small> || || 
|-
| [[Apert syndrome]] || || 
|-
| AR deficiency <br><small>''see'' [[androgen insensitivity syndrome]] </small> || || 
|-
| AR-CMT2 <br><small>''see'' [[Charcot-Marie-Tooth disease, type 2]] </small> || || 
|-
| Arachnodactyly <br><small>''see'' [[Marfan syndrome]] </small> || || 
|-
| ARNSHL <br><small>''see'' [[Nonsyndromic deafness#autosomal recessive]] </small> || || 
|-
| Arthro-ophthalmopathy, hereditary progressive <br><small>''see'' [[Stickler syndrome#COL2A1]] </small> || || 
|-
| Arthrochalasis multiplex congenita <br><small>''see'' [[Ehlers-Danlos syndrome#arthrochalasia type]] </small> || || 
|-
| AS <br><small>''see'' [[Angelman syndrome]] </small> || || 
|-
| Asp deficiency <br><small>''see'' [[Canavan disease]] </small> || || 
|-
| Aspa deficiency <br><small>''see'' [[Canavan disease]] </small> || || 
|-
| Aspartoacylase deficiency <br><small>''see'' [[Canavan disease]] </small> || || 
|-
| [[ataxia telangiectasia]] || || 
|-
| Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome <br><small>''see'' [[Rett syndrome]] </small> || || 
|-
| autosomal dominant juvenile ALS <br><small>''see'' [[amyotrophic lateral sclerosis, type 4]] </small> || || 
|-
| Autosomal dominant opitz G/BBB syndrome <br><small>''see'' [[22q11.2 deletion syndrome]] </small> || D || 22q
|-
| autosomal recessive form of juvenile ALS type 3 <br><small>''see'' [[Amyotrophic lateral sclerosis#type 2]] </small> || || 
|-
| Autosomal recessive nonsyndromic hearing loss <br><small>''see'' [[Nonsyndromic deafness#autosomal recessive]] </small> || || 
|-
| Autosomal Recessive Sensorineural Hearing Impairment and Goiter <br><small>''see'' [[Pendred syndrome]] </small> || || 
|-
| AxD <br><small>''see'' [[Alexander disease]] </small> || || 
|-
| Ayerza syndrome <br><small>''see'' [[primary pulmonary hypertension]] </small> || || 
|-
| B variant of the Hexosaminidase GM2 gangliosidosis <br><small>''see'' [[Sandhoff disease]] </small> || || 
|-
| BANF <br><small>''see'' [[neurofibromatosis type II]] </small> || || 
|-
| [[Beare-Stevenson cutis gyrata syndrome]] || || 10q26
|-
| Benign paroxysmal peritonitis <br><small>''see'' [[Mediterranean fever, familial]] </small> || || 
|-
| [[Benjamin syndrome]] || || 
|-
| [[beta-thalassemia]] || || 
|-
| BH4 Deficiency <br><small>''see'' [[tetrahydrobiopterin deficiency]] </small> || || 
|-
| Bilateral Acoustic Neurofibromatosis <br><small>''see'' [[neurofibromatosis type II]] </small> || || 
|-
| [[biotinidase deficiency]] || || 
|-
| [[bladder cancer]] || || 
|-
| Bleeding disorders <br><small>''see'' [[factor V Leiden thrombophilia]] </small> || || 
|-
| Bloch-Sulzberger syndrome <br><small>''see'' [[incontinentia pigmenti]] </small> || || 
|-
| [[Bloom syndrome]] || || 15q26.1
|-
| [[Bone diseases]] || || 
|-
| Bone marrow diseases <br><small>''see'' [[X-linked sideroblastic anemia]] </small> || || 
|-
| Bonnevie-Ullrich syndrome <br><small>''see'' [[Turner syndrome]] </small> || || 
|-
| Bourneville disease <br><small>''see'' [[tuberous sclerosis]] </small> || || 
|-
| Bourneville phakomatosis <br><small>''see'' [[tuberous sclerosis]] </small> || || 
|-
| Brain diseases <br><small>''see'' [[prion disease]] </small> || || 
|-
| [[breast cancer]] || || 
|-
| [[Birt–Hogg–Dubé syndrome]] || || 17
|-
| Brittle bone disease <br><small>''see'' [[osteogenesis imperfecta]] </small> || || 
|-
| Broad Thumb-Hallux syndrome <br><small>''see'' [[Rubinstein-Taybi syndrome]] </small> || || 
|-
| Bronze Diabetes <br><small>''see'' [[hemochromatosis]] </small> || || 
|-
| Bronzed cirrhosis <br><small>''see'' [[hemochromatosis]] </small> || || 
|-
| Bulbospinal muscular atrophy, X-linked <br><small>''see'' [[Kennedy's disease]] </small> || || 
|-
| Burger-Grutz syndrome <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small> || || 
|-
| [[CADASIL syndrome]] || P || 3
|-
| CGD [[Chronic granulomatous disorder]] || || 
|-
| [[Campomelic dysplasia]] || C || 17q24.3-q25.1
|-
| [[Canavan disease]] || || 
|-
| [[Cancer]] || || 
|-
| Cancer Family syndrome <br><small>''see'' [[hereditary nonpolyposis colorectal cancer]] </small> || ||
|-
| Cancer of breast <br><small>''see'' [[breast cancer]] </small> <ref>[http://www.cdc.gov/genomics/gtesting/ACCE/FBR/index.htm]</ref> || || 
|-
| Cancer of the bladder <br><small>''see'' [[bladder cancer]] </small> || || 
|-
| Carboxylase Deficiency, Multiple, Late-Onset <br><small>''see'' [[biotinidase deficiency]] </small> || P || 3
|-
| Cardiomyopathy <br><small>''see'' [[Noonan syndrome]] </small> || || 
|-
| Cat cry syndrome <br><small>''see'' [[Cri du chat]] </small> || || 
|-
| CAVD <br><small>''see'' [[congenital absence of the vas deferens]] </small> || ||
|-
| Caylor cardiofacial syndrome <br><small>''see'' [[22q11.2 deletion syndrome]] </small> || D || 22q
|-
| CBAVD <br><small>''see'' [[congenital absence of the vas deferens]] </small> || || 
|-
| [[Coeliac disease|Celiac Disease]] || || 
|-
| CEP <br><small>''see'' [[congenital erythropoietic porphyria]] </small> || || 
|-
| Ceramide trihexosidase deficiency <br><small>''see'' [[Fabry disease]] </small> || || X
|-
| Cerebelloretinal Angiomatosis, familial <br><small>''see'' [[von Hippel-Lindau disease]] </small> || P || 3 (p26-p25)
|-
| Cerebral arteriopathy <br> with subcortical infarcts and leukoencephalopathy <br><small>''see'' [[CADASIL syndrome]] </small> || P || 3
|-
| Cerebral autosomal dominant ateriopathy <br> with subcortical infarcts and leukoencephalopathy <br><small>''see'' [[CADASIL syndrome]] </small> || P || 3
|-
| Cerebral sclerosis <br><small>''see'' [[tuberous sclerosis]] </small> || || 9 (q34), 16 (p13.3)
|-
| Cerebroatrophic Hyperammonemia <br><small>''see'' [[Rett syndrome]] </small> || || X
|-
| Cerebroside Lipidosis syndrome <br><small>''see'' [[Gaucher disease]] </small> || P || 1(q21)
|-
| CF <br><small>''see'' [[cystic fibrosis]] </small> <ref>[http://www.cdc.gov/genomics/gtesting/ACCE/FBR/index.htm]</ref> || D (most common);<br> or substitution || CFTR (7q31.2)
|-
| CH <br><small>''see'' [[congenital hypothyroidism]] </small> || || 
|-
| Charcot disease <br><small>''see'' [[amyotrophic lateral sclerosis]] </small> || || 
|-
| [[Charcot-Marie-Tooth disease]] || || 
|-
| Chondrodystrophia <br><small>''see'' [[achondroplasia]] </small> || || 
|-
| Chondrodystrophy syndrome <br><small>''see'' [[achondroplasia]] </small> || || 
|-
| Chondrodystrophy with sensorineural deafness <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small> || || 
|-
| Chondrogenesis imperfecta <br><small>''see'' [[achondrogenesis, type II]] </small> || || 
|-
| Choreoathetosis self-mutilation hyperuricemia syndrome <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> || P || X
|-
| Classic Galactosemia <br><small>''see'' [[galactosemia]] </small> || P || 9 (p13)
|-
| Classical Ehlers-Danlos syndrome <br><small>''see'' [[Ehlers-Danlos syndrome#classical type]] </small> || || 
|-
| Classical Phenylketonuria <br><small>''see'' [[phenylketonuria]] </small> || || 
|-
| Cleft lip and palate <br><small>''see'' [[Stickler syndrome]] </small> || || 
|-
| Cloverleaf skull with thanatophoric dwarfism <br><small>''see'' [[Thanatophoric dysplasia#type 2]] </small> || || 
|-
| CLS <br><small>''see'' [[Coffin-Lowry syndrome]] </small> || || 
|-
| CMT <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small> || || 
|-
| [[Cockayne syndrome]] || || 
|-
| [[Coffin-Lowry syndrome]] || || 
|-
| [[collagenopathy, types II and XI]] || || 
|-
| Colon Cancer, familial Nonpolyposis <br><small>''see'' [[hereditary nonpolyposis colorectal cancer]] </small> || || 
|-
| Colon cancer, familial <br><small>''see'' [[familial adenomatous polyposis]] </small> || || 
|-
| [[Colorectal cancer]] <ref>[http://www.cdc.gov/genomics/gtesting/ACCE/FBR/index.htm]</ref> || || 
|-
| Complete HPRT deficiency <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> || || 
|-
| Complete hypoxanthine-guanine phosphoribosyltransferase deficiency <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> || || 
|-
| Compression neuropathy <br><small>''see'' [[hereditary neuropathy with liability to pressure palsies]] </small> || || 
|-
| Congenital adrenal hyperplasia <br><small>''see'' [[21-hydroxylase deficiency]] </small> || || 
|-
| congenital bilateral absence of vas deferens <br><small>''see'' [[Congenital absence of the vas deferens]] </small> || || 
|-
| [[Congenital erythropoietic porphyria]] || || 
|-
| [[Congenital heart disease]] || || 
|-
| Congenital hypomyelination <br><small>''see'' [[Charcot-Marie-Tooth disease#Type 1]]</small> <br><small>''see'' [[Charcot-Marie-Tooth disease#Type 4]] </small> || || 
|-
| [[Congenital hypothyroidism]] || || 
|-
| Congenital methemoglobinemia <br><small>''see'' [[Methemoglobinemia#Congenital methaemoglobinaemia]] </small> || || 
|-
| Congenital osteosclerosis <br><small>''see'' [[achondroplasia]] </small> || || 
|-
| Congenital sideroblastic anaemia <br><small>''see'' [[X-linked sideroblastic anemia]] </small> || || X
|-
| [[Connective tissue disease]] || || 
|-
| Conotruncal anomaly face syndrome <br><small>''see'' [[22q11.2 deletion syndrome]] </small> || D || 22q
|-
| Cooley's Anemia <br><small>''see'' [[beta-thalassemia]] </small> || || 
|-
| Copper storage disease <br><small>''see'' [[Wilson's disease]] </small> || || 13 (q14.3)
|-
| Copper transport disease <br><small>''see'' [[Menkes disease]] </small> || || 
|-
| Coproporphyria, hereditary <br><small>''see'' [[hereditary coproporphyria]] </small> || || 
|-
| Coproporphyrinogen oxidase deficiency <br><small>''see'' [[hereditary coproporphyria]] </small> || || 
|-
| [[Cowden syndrome]] || || 
|-
| CPO deficiency <br><small>''see'' [[hereditary coproporphyria]] </small> || || 
|-
| CPRO deficiency <br><small>''see'' [[hereditary coproporphyria]] </small> || || 
|-
| CPX deficiency <br><small>''see'' [[hereditary coproporphyria]] </small> || || 
|-
| Craniofacial dysarthrosis <br><small>''see'' [[Crouzon syndrome]] </small> || || 
|-
| Craniofacial Dysostosis <br><small>''see'' [[Crouzon syndrome]] </small> || || 
|-
| Cretinism <br><small>''see'' [[congenital hypothyroidism]] </small> || || 
|-
| Creutzfeldt-Jakob disease <br><small>''see'' [[prion disease]] </small> || || 
|-
| [[Cri du chat]] || D || 5p
|-
| [[Crohn's disease]], [[fibrostenosing]] || P || 16q12
|-
| [[Crouzon syndrome]] || || FGFR2 (10q25.3-q26)
|-
| Crouzon syndrome with acanthosis nigricans <br><small>''see'' [[Crouzonodermoskeletal syndrome]] </small> || || 
|-
| [[Crouzonodermoskeletal syndrome]] || || 
|-
| CS <br><small>''see'' [[Cockayne syndrome]]<br>''see'' [[Cowden syndrome]] </small> || || 
|-
| Curschmann-Batten-Steinert syndrome <br><small>''see'' [[myotonic dystrophy]] </small> || || 
|-
| cutis gyrata syndrome of Beare-Stevenson <br><small>''see'' [[Beare-Stevenson cutis gyrata syndrome]] </small> || || 
|-
| D-glycerate dehydrogenase deficiency <br><small>''see'' [[Primary hyperoxaluria|hyperoxaluria, primary]] </small> || || 
|-
| Dappled metaphysis syndrome <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> || || 
|-
| DAT - Dementia Alzheimer's type <br><small>''see'' [[Alzheimer's disease]] </small> || || 
|-
| Genetic hypercalciuria <br><small>''see'' [[Dent's disease]] </small> || || Xp11.22
|-
| DBMD <br><small>''see'' [[Muscular dystrophy| muscular dystrophy, Duchenne and Becker types]] </small> || || 
|-
| Deafness with goiter <br><small>''see'' [[Pendred syndrome]] </small> || || 
|-
| Deafness-retinitis pigmentosa syndrome <br><small>''see'' [[Usher syndrome]] </small> || || 
|-
| Deficiency disease, Phenylalanine Hydroxylase <br><small>''see'' [[phenylketonuria]] </small> || P || 12q
|-
| [[Degenerative nerve diseases]] || || 
|-
| De Grouchy Syndrome| de Grouchy syndrome 1 <br><small>''see'' [[De Grouchy syndrome]] </small> || D || 18p
|-
| Dejerine-Sottas syndrome <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small> || || 
|-
| Delta-aminolevulinate dehydratase deficiency porphyria <br><small>''see'' [[ALA dehydratase deficiency]] </small> || || 
|-
| Dementia <br><small>''see'' [[CADASIL syndrome]] </small> || || 
|-
| demyelinogenic leukodystrophy <br><small>''see'' [[Alexander disease]] </small> || || 
|-
| Dermatosparactic type of Ehlers-Danlos syndrome <br><small>''see'' [[Ehlers-Danlos syndrome#dermatosparaxis type]] </small> || || 
|-
| Dermatosparaxis <br><small>''see'' [[Ehlers-Danlos syndrome#dermatosparaxis type]] </small> || || 
|-
| [[developmental disabilities]] || || 
|-
| dHMN <br><small>''see'' [[Amyotrophic lateral sclerosis#type 4]] </small> || || 
|-
| DHMN-V <br><small>''see'' [[distal spinal muscular atrophy, type V]] </small> || || 
|-
| DHTR deficiency <br><small>''see'' [[androgen insensitivity syndrome]] </small> || || X
|-
| Diffuse Globoid Body Sclerosis <br><small>''see'' [[Krabbe disease]] </small> || || 
|-
| [[Di George's syndrome]] || D || 22q
|-
| Dihydrotestosterone receptor deficiency <br><small>''see'' [[androgen insensitivity syndrome]] </small> || || X
|-
| [[distal spinal muscular atrophy, type V]] || || 
|-
| DM1 <br><small>''see'' [[Myotonic dystrophy#type 1]] </small> || T || 19
|-
| DM2 <br><small>''see'' [[Myotonic dystrophy#type 2]] </small> || T || 3
|-
| [[Down syndrome]] || || 21
|-
| DSMAV <br><small>''see'' [[distal spinal muscular atrophy, type V]] </small> || || 
|-
| DSN <br><small>''see'' [[Charcot-Marie-Tooth disease#type 4]] </small> || || 
|-
| DSS <br><small>''see'' [[Charcot-Marie-Tooth disease, type 4]] </small> || || 
|-
| Duchenne/Becker muscular dystrophy <br><small>''see'' [[Muscular dystrophy, Duchenne and Becker type]] </small> || || 
|-
| Dwarf, achondroplastic <br><small>''see'' [[achondroplasia]] </small> || || 3
|-
| Dwarf, thanatophoric <br><small>''see'' [[thanatophoric dysplasia]] </small> || || 
|-
| [[Dwarfism]] || || 
|-
| Dwarfism-retinal atrophy-deafness syndrome <br><small>''see'' [[Cockayne syndrome]] </small> || || 
|-
| dysmyelinogenic leukodystrophy <br><small>''see'' [[Alexander disease]] </small> || || 
|-
| Dystrophia myotonica <br><small>''see'' [[myotonic dystrophy]] </small> || T || 19
|-
| dystrophia retinae pigmentosa-dysostosis syndrome <br><small>''see'' [[Usher syndrome]] </small> || ||
|-
| Early-Onset familial alzheimer disease (EOFAD) <br><small>''see'' [[Alzheimer disease#type 1]]</small> <br><small>''see'' [[Alzheimer disease#type 3]]</small> <br><small>''see'' [[Alzheimer disease#type 4]] </small> || ||
|-
| EDS <br><small>''see'' [[Ehlers-Danlos syndrome]] </small> || ||
|-
| [[Ehlers-Danlos syndrome]] || ||
|-
| Ekman-Lobstein disease <br><small>''see'' [[osteogenesis imperfecta]] </small> || ||
|-
| Entrapment neuropathy <br><small>''see'' [[hereditary neuropathy with liability to pressure palsies]] </small> || ||
|-
| Epiloia <br><small>''see'' [[tuberous sclerosis]] </small> || ||
|-
| EPP <br><small>''see'' [[erythropoietic protoporphyria]] </small> || ||
|-
| Erythroblastic anemia <br><small>''see'' [[beta-thalassemia]] </small> || ||
|-
| Erythrohepatic protoporphyria <br><small>''see'' [[erythropoietic protoporphyria]] </small> || ||
|-
| Erythroid 5-aminolevulinate synthetase deficiency <br><small>''see'' [[X-linked sideroblastic anemia]] </small> || ||
|-
| Erythropoietic porphyria <br><small>''see'' [[congenital erythropoietic porphyria]] </small> || ||
|-
| [[erythropoietic protoporphyria]] || ||
|-
| Erythropoietic uroporphyria <br><small>''see'' [[congenital erythropoietic porphyria]] </small> || ||
|-
| Eye cancer <br><small>''see'' [[retinoblastoma FA - Friedreich ataxia]]</small> <br><small>''see'' [[Friedreich's ataxia]] </small> || ||
|-
| FA <br><small>''see'' [[fanconi anemia]] </small> || ||
|-
| [[Fabry disease]] || P || Xq22.1
|-
| [[Facial injuries and disorders]] || ||
|-
| [[factor V Leiden thrombophilia]] || ||
|-
| FALS <br><small>''see'' [[amyotrophic lateral sclerosis]] </small> || ||
|-
| familial acoustic neuroma <br><small>''see'' [[neurofibromatosis type II]] </small> || ||
|-
| [[familial adenomatous polyposis]] || ||
|-
| familial Alzheimer disease (FAD) <br><small>''see'' [[Alzheimer's disease]] </small> || ||
|-
| familial amyotrophic lateral sclerosis <br><small>''see'' [[amyotrophic lateral sclerosis]] </small> || ||
|-
| [[familial dysautonomia]] || ||
|-
| familial fat-induced hypertriglyceridemia <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small> || ||
|-
| familial hemochromatosis <br><small>''see'' [[hemochromatosis]] </small> || ||
|-
| familial LPL deficiency <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small> || ||
|-
| familial nonpolyposis colon cancer <br><small>''see'' [[hereditary nonpolyposis colorectal cancer]] </small> || ||
|-
| familial paroxysmal polyserositis <br><small>''see'' [[Mediterranean fever, familial]] </small> || ||
|-
| familial PCT <br><small>''see'' [[porphyria cutanea tarda]] </small> || ||
|-
| familial pressure sensitive neuropathy <br><small>''see'' [[hereditary neuropathy with liability to pressure palsies]] </small> || ||
|-
| familial primary pulmonary hypertension (FPPH) <br><small>''see'' [[primary pulmonary hypertension]] </small> || ||
|-
| Familial Turner syndrome <br><small>''see'' [[Noonan syndrome]] </small> || ||
|-
| familial vascular leukoencephalopathy <br><small>''see'' [[CADASIL syndrome]] </small> || ||
|-
| FAP <br><small>''see'' [[familial adenomatous polyposis]] </small> || ||
|-
| FD <br><small>''see'' [[familial dysautonomia]] </small> || ||
|-
| Female pseudo-Turner syndrome <br><small>''see'' [[Noonan syndrome]] </small> || ||
|-
| Ferrochelatase deficiency <br><small>''see'' [[erythropoietic protoporphyria]] </small> || ||
|-
| ferroportin disease <br><small>''see'' [[Haemochromatosis#type 4]] </small> || ||
|-
| Fever <br><small>''see'' [[Mediterranean fever, familial]] </small> || ||
|-
| [[FG syndrome]] || ||
|-
| FGFR3-associated coronal synostosis <br><small>''see'' [[Muenke syndrome]] </small> || ||
|-
| Fibrinoid degeneration of astrocytes <br><small>''see'' [[Alexander disease]] </small> || ||
|-
| Fibrocystic disease of the pancreas <br><small>''see'' [[cystic fibrosis]] </small> || ||
|-
| FMF <br><small>''see'' [[Mediterranean fever, familial]] </small> || ||
|-
| Folling disease <br><small>''see'' [[phenylketonuria]] </small> || ||
|-
| fra(X) syndrome <br><small>''see'' [[fragile X syndrome]] </small> || || Xq27.3
|-
| [[fragile X syndrome]] || || Xq27.3
|-
| Fragilitas ossium <br><small>''see'' [[osteogenesis imperfecta]] </small> || ||
|-
| FRAXA syndrome <br><small>''see'' [[fragile X syndrome]] </small> || || Xq27.3
|-
| FRDA <br><small>''see'' [[Friedreich's ataxia]] </small> || ||
|-
| [[Friedreich's ataxia]] <br><small>''see'' [[Friedreich's ataxia]] </small> || ||
|-
| [[Friedreich's ataxia]] || ||
|-
| FXS <br><small>''see'' [[fragile X syndrome]] </small> || || Xq27.3
|-
| [[G6PD deficiency]] || ||
|-
| Galactokinase deficiency disease <br><small>''see'' [[galactosemia]] </small> || ||
|-
| Galactose-1-phosphate uridyl-transferase deficiency disease <br><small>''see'' [[galactosemia]] </small> || ||
|-
| [[galactosemia]] || ||
|-
| Galactosylceramidase deficiency disease <br><small>''see'' [[Krabbe disease]] </small> || ||
|-
| Galactosylceramide lipidosis <br><small>''see'' [[Krabbe disease]] </small> || ||
|-
| galactosylcerebrosidase deficiency <br><small>''see'' [[Krabbe disease]] </small> || ||
|-
| galactosylsphingosine lipidosis <br><small>''see'' [[Krabbe disease]] </small> || ||
|-
| GALC deficiency <br><small>''see'' [[Krabbe disease]] </small> || ||
|-
| GALT deficiency <br><small>''see'' [[galactosemia]] </small> || ||
|-
| [[Gaucher disease]] || ||
|-
| Gaucher-like disease <br><small>''see'' [[pseudo-Gaucher disease]] </small> || ||
|-
| GBA deficiency <br><small>''see'' [[Gaucher disease type 1]] </small> || ||
|-
| Gaucher's disease| GD <br><small>''see'' [[Gaucher's disease]] </small> || ||
|-
| [[Genetic brain disorders]] || ||
|-
| genetic emphysema <br><small>''see'' [[alpha 1-antitrypsin deficiency]] </small> || ||
|-
| genetic hemochromatosis <br><small>''see'' [[hemochromatosis]] </small> || ||
|-
| Giant cell hepatitis, neonatal <br><small>''see'' [[Neonatal hemochromatosis]] </small> || ||
|-
| GLA deficiency <br><small>''see'' [[Fabry disease]] </small> || ||
|-
| Glioblastoma, retinal <br><small>''see'' [[retinoblastoma]] </small> || ||
|-
| Glioma, retinal <br><small>''see'' [[retinoblastoma]] </small> || ||
|-
| globoid cell leukodystrophy (GCL, GLD) <br><small>''see'' [[Krabbe disease]] </small> || ||
|-
| globoid cell leukoencephalopathy <br><small>''see'' [[Krabbe disease]] </small> || ||
|-
| Glucocerebrosidase deficiency <br><small>''see'' [[Gaucher disease]] </small> || ||
|-
| Glucocerebrosidosis <br><small>''see'' [[Gaucher disease]] </small> || ||
|-
| Glucosyl cerebroside lipidosis <br><small>''see'' [[Gaucher disease]] </small> || ||
|-
| Glucosylceramidase deficiency <br><small>''see'' [[Gaucher disease]] </small> || ||
|-
| Glucosylceramide beta-glucosidase deficiency <br><small>''see'' [[Gaucher disease]] </small> || ||
|-
| Glucosylceramide lipidosis <br><small>''see'' [[Gaucher disease]] </small> || ||
|-
| Glyceric aciduria <br><small>''see'' [[hyperoxaluria, primary]] </small> || ||
|-
| Glycine encephalopathy <br><small>''see'' [[Nonketotic hyperglycinemia]] </small> || ||
|-
| Glycolic aciduria <br><small>''see'' [[hyperoxaluria, primary]] </small> || ||
|-
| GM2 gangliosidosis, type 1 <br><small>''see'' [[Tay-Sachs disease]] </small> || ||
|-
| Goiter-deafness syndrome <br><small>''see'' [[Pendred syndrome]] </small> || ||
|-
| Graefe-Usher syndrome <br><small>''see'' [[Usher syndrome]] </small> || ||
|-
| Gronblad-Strandberg syndrome <br><small>''see'' [[pseudoxanthoma elasticum]] </small> || ||
|-
| Guenther porphyria <br><small>''see'' [[congenital erythropoietic porphyria]] </small> || ||
|-
| Gunther disease <br><small>''see'' [[congenital erythropoietic porphyria]] </small> || ||
|-
| Haemochromatosis <br><small>''see'' [[hemochromatosis]] </small> || ||
|-
| Hallgren syndrome <br><small>''see'' [[Usher syndrome]] </small> || ||
|-
| [[Harlequin type ichthyosis]] || ||
|-
| Hb S disease <br><small>''see'' [[sickle cell anemia]] </small> || ||
|-
| HCH <br><small>''see'' [[hypochondroplasia]] </small> || ||
|-
| HCP <br><small>''see'' [[hereditary coproporphyria]] </small> || ||
|-
| [[Head and brain malformations]] || ||
|-
| [[Hearing disorders and deafness]] || ||
|-
| [[Hearing problems in children]] || ||
|-
| HEF2A <br><small>''see'' [[hemochromatosis#type 2]] </small> || ||
|-
| HEF2B <br><small>''see'' [[hemochromatosis#type 2]] </small> || ||
|-
| Hematoporphyria <br><small>''see'' [[porphyria]] </small> || ||
|-
| Heme synthetase deficiency <br><small>''see'' [[erythropoietic protoporphyria]] </small> || ||
|-
| Hemochromatoses <br><small>''see'' [[hemochromatosis]] </small> || ||
|-
| [[hemochromatosis]] || ||
|-
| hemoglobin M disease <br><small>''see'' [[methemoglobinemia#beta-globin type]] </small> || ||
|-
| Hemoglobin S disease <br><small>''see'' [[sickle cell anemia]] </small> || ||
|-
| [[hemophilia]] || ||
|-
| HEP <br><small>''see'' [[hepatoerythropoietic porphyria]] </small> || ||
|-
| hepatic AGT deficiency <br><small>''see'' [[hyperoxaluria, primary]] </small> || ||
|-
| [[hepatoerythropoietic porphyria]] || ||
|-
| Hepatolenticular degeneration syndrome <br><small>''see'' [[Wilson disease]] </small> || ||
|-
| Hereditary arthro-ophthalmopathy <br><small>''see'' [[Stickler syndrome]] </small> || ||
|-
| [[Hereditary coproporphyria]] || P || 3q12
|-
| Hereditary dystopic lipidosis <br><small>''see'' [[Fabry disease]] </small> || ||
|-
| Hereditary hemochromatosis (HHC) <br><small>''see'' [[hemochromatosis]] </small> <ref>[http://www.cdc.gov/genomics/gtesting/ACCE/FBR/index.htm]</ref> || ||
|-
| Hereditary Inclusion Body Myopathy <br><small>''see'' [[skeletal muscle regeneration]] </small> || ||
|-
| Hereditary iron-loading anemia <br><small>''see'' [[X-linked sideroblastic anemia]] </small> || ||
|-
| Hereditary motor and sensory neuropathy <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small> || ||
|-
| Hereditary motor neuronopathy <br><small>''see'' [[spinal muscular atrophy]] </small> || ||
|-
| Hereditary motor neuronopathy, type V <br><small>''see'' [[distal spinal muscular atrophy, type V]] </small> || ||
|-
| [[Hereditary multiple exostoses]] || ||
|-
| [[Hereditary nonpolyposis colorectal cancer]] || DNA mismatch repair dysfunction <br> usually in [[MSH2]] and MLH1 genes || usually chromosomes 2 and 3
|-
| Hereditary periodic fever syndrome <br><small>''see'' [[Mediterranean fever, familial]] </small> || ||
|-
| Hereditary Polyposis Coli <br><small>''see'' [[familial adenomatous polyposis]] </small> || ||
|-
| Hereditary pulmonary emphysema <br><small>''see'' [[alpha 1-antitrypsin deficiency]] </small> || ||
|-
| Hereditary resistance to activated protein C <br><small>''see'' [[factor V Leiden thrombophilia]] </small> || ||
|-
| Hereditary sensory and autonomic neuropathy type III <br><small>''see'' [[familial dysautonomia]] </small> || ||
|-
| Hereditary spastic paraplegia <br><small>''see'' [[infantile-onset ascending hereditary spastic paralysis]] </small> || ||
|-
| Hereditary spinal ataxia <br><small>''see'' [[Friedreich's ataxia]] </small> || ||
|-
| Hereditary spinal sclerosis <br><small>''see'' [[Friedreich's ataxia]] </small> || ||
|-
| Herrick's anemia <br><small>''see'' [[sickle cell anemia]] </small> || ||
|-
| Heterozygous OSMED <br><small>''see'' [[Weissenbacher-Zweymüller syndrome]] </small> || ||
|-
| Heterozygous otospondylomegaepiphyseal dysplasia <br><small>''see'' [[Weissenbacher-Zweymüller syndrome]] </small> || ||
|-
| HexA deficiency <br><small>''see'' [[Tay-Sachs disease]] </small> || ||
|-
| Hexosaminidase A deficiency <br><small>''see'' [[Tay-Sachs disease]] </small> || ||
|-
| Hexosaminidase alpha-subunit deficiency (variant B) <br><small>''see'' [[Tay-Sachs disease]] </small> || ||
|-
| HFE-associated hemochromatosis <br><small>''see'' [[hemochromatosis]] </small> || ||
|-
| HGPS <br><small>''see'' [[Progeria]] </small> || ||
|-
| Hippel-Lindau disease <br><small>''see'' [[von Hippel-Lindau disease]] </small> || ||
|-
| HLAH <br><small>''see'' [[hemochromatosis]] </small> || ||
|-
| HMN V <br><small>''see'' [[distal spinal muscular atrophy, type V]] </small> || ||
|-
| HMSN <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small> || ||
|-
| HNPCC <br><small>''see'' [[hereditary nonpolyposis colorectal cancer]] </small> || ||
|-
| HNPP <br><small>''see'' [[hereditary neuropathy with liability to pressure palsies]] </small> || ||
|-
| [[homocystinuria]] || ||
|-
| Homogentisic acid oxidase deficiency <br><small>''see'' [[alkaptonuria]] </small> || ||
|-
| Homogentisic acidura <br><small>''see'' [[alkaptonuria]] </small> || ||
|-
| Homozygous porphyria cutanea tarda <br><small>''see'' [[hepatoerythropoietic porphyria]] </small> || ||
|-
| HP1 <br><small>''see'' [[hyperoxaluria, primary]] </small> || ||
|-
| HP2 <br><small>''see'' [[hyperoxaluria, primary]] </small> || ||
|-
| HPA <br><small>''see'' [[hyperphenylalaninemia]] </small> || ||
|-
| HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> || ||
|-
| HSAN type III <br><small>''see'' [[familial dysautonomia]] </small> || ||
|-
| HSAN3 <br><small>''see'' [[familial dysautonomia]] </small> || ||
|-
| HSN-III <br><small>''see'' [[familial dysautonomia]] </small> || ||
|-
| Human dermatosparaxis <br><small>''see'' [[Ehlers-Danlos syndrome#dermatosparaxis type]] </small> || ||
|-
| [[Huntington's disease]] || T || 4p16.3 
|-
| Hutchinson-Gilford progeria syndrome <br><small>''see'' [[progeria]]</small> || ||
|-
| Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency <br><small>''see'' [[21-hydroxylase deficiency]] </small> || ||
|-
| Hyperchylomicronemia, familial <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small> || ||
|-
| hyperglycinemia with ketoacidosis and leukopenia <br><small>''see'' [[propionic acidemia]] </small> || ||
|-
| Hyperlipoproteinemia type I <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small> || ||
|-
| [[hyperoxaluria, primary]] || ||
|-
| hyperphenylalaninaemia <br><small>''see'' [[hyperphenylalaninemia]] </small> || ||
|-
| [[hyperphenylalaninemia]] || ||
|-
| Hypochondrodysplasia <br><small>''see'' [[hypochondroplasia]] </small> || ||
|-
| [[hypochondrogenesis]] || ||
|-
| [[hypochondroplasia]] || ||
|-
| Hypochromic anemia <br><small>''see'' [[X-linked sideroblastic anemia]] </small> || ||
|-
| Hypocupremia, congenital <br><small>''see'' [[Menkes disease]] </small> || ||
|-
| hypoxanthine phosphoribosyltransferse (HPRT) deficiency <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> || ||
|-
| IAHSP <br><small>''see'' [[infantile-onset ascending hereditary spastic paralysis]] </small> || ||
|-
| idiopathic hemochromatosis <br><small>''see'' [[hemochromatosis, type 3]] </small> || ||
|-
| Idiopathic neonatal hemochromatosis <br><small>''see'' [[hemochromatosis, neonatal]] </small> || ||
|-
| Idiopathic pulmonary hypertension <br><small>''see'' [[primary pulmonary hypertension]] </small> || ||
|-
| Immune system disorders <br><small>''see'' [[X-linked severe combined immunodeficiency]] </small> || ||
|-
| [[Incontinentia pigmenti]] || P || Xq28
|-
| Infantile cerebral Gaucher's disease <br><small>''see'' [[Gaucher disease type 2]] </small> || ||
|-
| Infantile Gaucher disease <br><small>''see'' [[Gaucher disease type 2]] </small> || ||
|-
| [[infantile-onset ascending hereditary spastic paralysis]] || ||
|-
| [[Infertility]] || ||
|-
| inherited emphysema <br><small>''see'' [[alpha 1-antitrypsin deficiency]] </small> || ||
|-
| Inherited human transmissible spongiform encephalopathies <br><small>''see'' [[prion disease]] </small> || ||
|-
| inherited tendency to pressure palsies <br><small>''see'' [[hereditary neuropathy with liability to pressure palsies]] </small> || ||
|-
| Insley-Astley syndrome <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small> || ||
|-
| Intermittent acute porphyria syndrome <br><small>''see'' [[acute intermittent porphyria]] </small> || ||
|-
| Intestinal polyposis-cutaneous pigmentation syndrome <br><small>''see'' [[Peutz–Jeghers syndrome]] </small> || ||
|-
| IP <br><small>''see'' [[incontinentia pigmenti]] </small> || ||
|-
| Iron storage disorder <br><small>''see'' [[hemochromatosis]] </small> || ||
|-
| Isodicentric 15 <br><small>''see'' [[isodicentric 15]] </small> || Inv dup || 15q11-14
|-
| Isolated deafness <br><small>''see'' [[nonsyndromic deafness]] </small> || ||
|-
| [[Jackson-Weiss syndrome]] || ||
|-
| JH <br><small>''see'' [[Haemochromatosis#type 2]] </small> || ||
|-
| [[Joubert syndrome]] || ||
|-
| JPLS <br><small>''see'' [[Juvenile Primary Lateral Sclerosis]] </small> || || [[ALS2]]
|-
| juvenile amyotrophic lateral sclerosis <br><small>''see'' [[Amyotrophic lateral sclerosis#type 2]] </small> || ||
|-
| Juvenile gout, choreoathetosis, mental retardation syndrome <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> || ||
|-
| juvenile hyperuricemia syndrome <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> || ||
|-
| JWS <br><small>''see'' [[Jackson-Weiss syndrome]] </small> || ||
|-
| KD <br><small>''see'' [[X-linked spinal-bulbar muscle atrophy]] </small> || ||
|-
| Kennedy disease <br><small>''see'' [[X-linked spinal-bulbar muscle atrophy]] </small> || ||
|-
| Kennedy spinal and bulbar muscular atrophy <br><small>''see'' [[X-linked spinal-bulbar muscle atrophy]] </small> || ||
|-
| Kerasin histiocytosis <br><small>''see'' [[Gaucher disease]] </small> || ||
|-
| Kerasin lipoidosis <br><small>''see'' [[Gaucher disease]] </small> || ||
|-
| Kerasin thesaurismosis <br><small>''see'' [[Gaucher disease]] </small> || ||
|-
| ketotic glycinemia <br><small>''see'' [[propionic acidemia]] </small> || ||
|-
| ketotic hyperglycinemia <br><small>''see'' [[propionic acidemia]] </small> || ||
|-
| Kidney diseases <br><small>''see'' [[hyperoxaluria, primary]] </small> || ||
|-
| [[Klinefelter's syndrome]] || ||
|-
| Klinefelter's syndrome <br><small>''see'' [[Klinefelter's syndrome]] </small> || ||
|-
| [[Kniest dysplasia]] || ||
|-
| [[Krabbe disease]] || ||
|-
| Lacunar dementia <br><small>''see'' [[CADASIL syndrome]] </small> || ||
|-
| Langer-Saldino achondrogenesis <br><small>''see'' [[achondrogenesis, type II]] </small> || ||
|-
| Langer-Saldino dysplasia <br><small>''see'' [[achondrogenesis, type II]] </small> || ||
|-
| Late-onset Alzheimer disease <br><small>''see'' [[Alzheimer disease#type 2]] </small> || ||
|-
| Late-onset familial Alzheimer disease (AD2) <br><small>''see'' [[Alzheimer disease#type 2]] </small> || ||
|-
| late-onset Krabbe disease (LOKD) <br><small>''see'' [[Krabbe disease]] </small> || ||
|-
| [[Learning disorders|Learning Disorders]] <br><small>''see'' [[Learning disability]] </small> || ||
|-
| Lentiginosis, perioral <br><small>''see'' [[Peutz-Jeghers syndrome]] </small> || ||
|-
| [[Lesch-Nyhan syndrome]] || ||
|-
| [[Leukodystrophies]] || ||
|-
| leukodystrophy with Rosenthal fibers <br><small>''see'' [[Alexander disease]] </small> || ||
|-
| Leukodystrophy, spongiform <br><small>''see'' [[Canavan disease]] </small> || ||
|-
| Li-Fraumeni syndrome| LFS <br><small>''see'' [[Li-Fraumeni syndrome]] </small> || ||
|-
| [[Li-Fraumeni syndrome]] || ||
|-
| Lipase D deficiency <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small> || ||
|-
| LIPD deficiency <br><small>''see'' [[lipoprotein lipase deficiency, familial]] </small> || ||
|-
| Lipidosis, cerebroside <br><small>''see'' [[Gaucher disease]] </small> || ||
|-
| Lipidosis, ganglioside, infantile <br><small>''see'' [[Tay-Sachs disease]] </small> || ||
|-
| Lipoid histiocytosis (kerasin type) <br><small>''see'' [[Gaucher disease]] </small> || ||
|-
| [[lipoprotein lipase deficiency, familial]] || ||
|-
| Liver diseases <br><small>''see'' [[galactosemia]] </small> || ||
|-
| Lou Gehrig disease <br><small>''see'' [[amyotrophic lateral sclerosis]] </small> || ||
|-
| Louis-Bar syndrome <br><small>''see'' [[ataxia telangiectasia]] </small> || ||
|-
| Lynch syndrome <br><small>''see'' [[hereditary nonpolyposis colorectal cancer]] </small> || ||
|-
| Lysyl-hydroxylase deficiency <br><small>''see'' [[Ehlers-Danlos syndrome#kyphoscoliosis type]] </small> || ||
|-
| Machado-Joseph disease <br><small>''see'' [[Spinocerebellar ataxia#type 3]] </small> || ||
|-
| Male breast cancer <br><small>''see'' [[breast cancer]] </small> || ||
|-
| [[Male genital disorders]] || ||
|-
| Male Turner syndrome <br><small>''see'' [[Noonan syndrome]] </small> || ||
|-
| Malignant neoplasm of breast <br><small>''see'' [[breast cancer]] </small> || ||
|-
| malignant tumor of breast <br><small>''see'' [[breast cancer]] </small> || ||
|-
| Malignant tumor of urinary bladder <br><small>''see'' [[bladder cancer]] </small> || ||
|-
| Mammary cancer <br><small>''see'' [[breast cancer]] </small> || ||
|-
| [[Marfan syndrome]] || || 15
|-
| Marker X syndrome <br><small>''see'' [[fragile X syndrome]] </small> || ||
|-
| Martin-Bell syndrome <br><small>''see'' [[fragile X syndrome]] </small> || ||
|-
| [[McCune–Albright syndrome]] || || 20 q13.2-13.3
|-
| [[McLeod syndrome]] || || X
|-
| MEDNIK <ref>[http://www.ctv.ca/servlet/ArticleNews/story/CTVNews/20081204/Mutated_Gene_081204/20081204?hub=Health][http://www.eurekalert.org/pub_releases/2008-12/plos-an120308.php]</ref> || D || [[AP1S1]]
|-
| Mediterranean Anemia <br><small>''see'' [[beta-thalassemia]] </small> || ||
|-
| [[Mediterranean fever, familial]] || ||
|-
| Mega-epiphyseal dwarfism <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small> || ||
|-
| Menkea syndrome <br><small>''see'' [[Menkes disease]] </small> || ||
|-
| [[Menkes disease]] || ||
|-
| Mental retardation with osteocartilaginous abnormalities <br><small>''see'' [[Coffin-Lowry syndrome]] </small> || ||
|-
| [[Metabolic disorders]] || ||
|-
| Metatropic dwarfism, type II <br><small>''see'' [[Kniest dysplasia]] </small> || ||
|-
| Metatropic dysplasia type II <br><small>''see'' [[Kniest dysplasia]] </small> || ||
|-
| [[Methemoglobinemia#beta-globin type]] || ||
|-
| [[methylmalonic acidemia]] || ||
|-
| MFS <br><small>''see'' [[Marfan syndrome]] </small> || ||
|-
| MHAM <br><small>''see'' [[Cowden syndrome]] </small> || ||
|-
| MK <br><small>''see'' [[Menkes disease]] </small> || ||
|-
| [[Micro syndrome]] || || 2q21.3
|-
| [[Microcephaly]] || P || 1q31 ([[ASPM (Gene)|ASPM]])
|-
| MMA <br><small>''see'' [[methylmalonic acidemia]] </small> || ||
|-
| MNK <br><small>''see'' [[Menkes disease]] </small> || ||
|-
| Monosomy 1p36 syndrome <br><small>''see'' [[1p36 deletion syndrome]] </small> || D || 1p36
|-
| monosomy X <br><small>''see'' [[Turner syndrome]] </small> || ||
|-
| Motor neuron disease, amyotrophic lateral sclerosis <br><small>''see'' [[amyotrophic lateral sclerosis]] </small> || ||
|-
| [[Movement disorder]]s || ||
|-
| [[Mowat-Wilson syndrome]] || ||
|-
| [[Mucopolysaccharidosis]] (MPS I)  || ||
|-
| Mucoviscidosis <br><small>''see'' [[cystic fibrosis]] </small> || ||
|-
| [[Muenke syndrome]] || ||
|-
| Multi-Infarct dementia <br><small>''see'' [[CADASIL syndrome]] </small> || ||
|-
| Multiple carboxylase deficiency, late-onset <br><small>''see'' [[biotinidase deficiency]] </small> || ||
|-
| Multiple hamartoma syndrome <br><small>''see'' [[Cowden syndrome]] </small> || ||
|-
| Multiple neurofibromatosis <br><small>''see'' [[neurofibromatosis]] </small> || ||
|-
| [[Muscular dystrophy]] || ||
|-
| [[Muscular dystrophy, Duchenne and Becker type]] || ||
|-
| Myotonia atrophica <br><small>''see'' [[myotonic dystrophy]] </small> || ||
|-
| Myotonia dystrophica <br><small>''see'' [[myotonic dystrophy]] </small> || ||
|-
| [[myotonic dystrophy]] || ||
|-
| Myxedema, congenital <br><small>''see'' [[congenital hypothyroidism]] </small> || ||
|-
| Nance-Insley syndrome <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small> || ||
|-
| Nance-Sweeney chondrodysplasia <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small> || ||
|-
| NBIA1 <br><small>''see'' [[pantothenate kinase-associated neurodegeneration]] </small> || ||
|-
| Neill-Dingwall syndrome <br><small>''see'' [[Cockayne syndrome]] </small> || ||
|-
| Neuroblastoma, retinal <br><small>''see'' [[retinoblastoma]] </small> || ||
|-
| Neurodegeneration with brain iron accumulation type 1 <br><small>''see'' [[pantothenate kinase-associated neurodegeneration]] </small> || ||
|-
| [[Neurofibromatosis type I]] || || 17q11.2
|-
| [[Neurofibromatosis type II]] || ||
|-
| [[Neurologic diseases]] || ||
|-
| [[Neuromuscular disorders]] || ||
|-
| neuronopathy, distal hereditary motor, type V <br><small>''see'' [[Distal spinal muscular atrophy#type V]] </small> || ||
|-
| neuronopathy, distal hereditary motor, with pyramidal features <br><small>''see'' [[Amyotrophic lateral sclerosis#type 4]] </small> || ||
|-
| Niemann-Pick <br><small>''see'' [[Niemann–Pick disease]] </small> || {{dn| NPA}}, {{dn| NPB}}, [[NPC1]], [[NPC2]],<br> [[Sphingomyelin phosphodiesterase 1]] || [[SMPD1]]
|-
| Noack syndrome <br><small>''see'' [[Pfeiffer syndrome]] </small> || ||
|-
| Nonketotic hyperglycinemia <br><small>''see'' [[Glycine encephalopathy]] </small> || ||
|-
| Non-neuronopathic Gaucher disease <br><small>''see'' [[Gaucher disease type 1]] </small> || ||
|-
| Non-phenylketonuric hyperphenylalaninemia <br><small>''see'' [[tetrahydrobiopterin deficiency]] </small> || ||
|-
| [[nonsyndromic deafness]] || ||
|-
| [[Noonan syndrome]] || ||
|-
| Norrbottnian Gaucher disease <br><small>''see'' [[Gaucher disease type 3]] </small> || ||
|-
| Ochronosis <br><small>''see'' [[alkaptonuria]] </small> || ||
|-
| Ochronotic arthritis <br><small>''see'' [[alkaptonuria]] </small> || ||
|-
| OI <br><small>''see'' [[osteogenesis imperfecta]] </small> || ||
|-
| OSMED <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small> || ||
|-
| [[osteogenesis imperfecta]] || ||
|-
| Osteopsathyrosis <br><small>''see'' [[osteogenesis imperfecta]] </small> || ||
|-
| Osteosclerosis congenita <br><small>''see'' [[achondroplasia]] </small> || ||
|-
| Oto-spondylo-megaepiphyseal dysplasia <br><small>''see'' [[otospondylomegaepiphyseal dysplasia]] </small> || ||
|-
| [[otospondylomegaepiphyseal dysplasia]] || ||
|-
| Oxalosis <br><small>''see'' [[hyperoxaluria, primary]] </small> || ||
|-
| Oxaluria, primary <br><small>''see'' [[hyperoxaluria, primary]] </small> || ||
|-
| [[pantothenate kinase-associated neurodegeneration]] || ||
|-
| [[Patau syndrome|Patau Syndrome (Trisomy 13)]] || ||
|-
| PBGD deficiency <br><small>''see'' [[acute intermittent porphyria]] </small> || ||
|-
| PCC deficiency <br><small>''see'' [[propionic acidemia]] </small> || ||
|-
| PCT <br><small>''see'' [[porphyria cutanea tarda]] </small> || ||
|-
| PDM <br><small>''see'' [[Myotonic dystrophy#type 2]] </small> || ||
|-
| [[Pendred syndrome]] || ||
|-
| Periodic disease <br><small>''see'' [[Mediterranean fever, familial]] </small> || ||
|-
| Periodic peritonitis <br><small>''see'' [[Mediterranean fever, familial]] </small> || ||
|-
| Periorificial lentiginosis syndrome <br><small>''see'' [[Peutz-Jeghers syndrome]] </small> || ||
|-
| Peripheral nerve disorders <br><small>''see'' [[familial dysautonomia]] </small> || ||
|-
| Peripheral neurofibromatosis <br><small>''see'' [[neurofibromatosis type I]] </small> || ||
|-
| Peroneal muscular atrophy <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small> || ||
|-
| peroxisomal alanine:glyoxylate aminotransferase deficiency <br><small>''see'' [[hyperoxaluria, primary]] </small> || ||
|-
| [[Peutz-Jeghers syndrome]] || ||
|-
| [[Pfeiffer syndrome]] || ||
|-
| Phenylalanine hydroxylase deficiency disease <br><small>''see'' [[phenylketonuria]] </small> || ||
|-
| [[phenylketonuria]] || ||
|-
| [[Pheochromocytoma]] <br><small>''see'' [[von Hippel-Lindau disease]] </small> || ||
|-
| Pierre Robin syndrome with fetal chondrodysplasia <br><small>''see'' [[Weissenbacher-Zweymüller syndrome]] </small> || ||
|-
| [[Pigmentary cirrhosis]] <br><small>''see'' [[hemochromatosis]] </small> || ||
|-
| PJS <br><small>''see'' [[Peutz-Jeghers syndrome]] </small> || ||
|-
| PKAN <br><small>''see'' [[pantothenate kinase-associated neurodegeneration]] </small> || ||
|-
| PKU <br><small>''see'' [[phenylketonuria]] </small> || ||
|-
| Plumboporphyria <br><small>''see'' [[ALA deficiency porphyria]] </small> || ||
|-
| PMA <br><small>''see'' [[Charcot-Marie-tooth disease]] </small> || ||
|-
| [[Polycystic kidney disease]]
| P
| [[chromosome 16|16]] ([[PKD1]]) or [[chromosome 4|4]] ([[PKD2]])
|- 
| polyostotic fibrous dysplasia<br><small>''see'' [[McCune–Albright syndrome]]</small> || || 20 q13.2-13.3
|-
| polyposis coli <br><small>''see'' [[familial adenomatous polyposis]] </small> || ||
|-
| polyposis, hamartomatous intestinal <br><small>''see'' [[Peutz-Jeghers syndrome]] </small> || ||
|-
| polyposis, intestinal, II <br><small>''see'' [[Peutz-Jeghers syndrome]] </small> || ||
|-
| polyps-and-spots syndrome <br><small>''see'' [[Peutz-Jeghers syndrome]] </small> || ||
|-
| Porphobilinogen synthase deficiency <br><small>''see'' [[ALA deficiency porphyria]] </small> || ||
|-
| [[porphyria]] || ||
|-
| porphyrin disorder <br><small>''see'' [[porphyria]] </small> || ||
|-
| PPH <br><small>''see'' [[primary pulmonary hypertension]] </small> || ||
|-
| PPOX deficiency <br><small>''see'' [[variegate porphyria]] </small> || ||
|-
| Prader-Labhart-Willi syndrome <br><small>''see'' [[Prader-Willi syndrome]] </small> || ||
|-
| [[Prader-Willi syndrome]] || ||
|-
| presenile and senile dementia <br><small>''see'' [[Alzheimer's disease]] </small> || ||
|-
| primary hemochromatosis <br><small>''see'' [[hemochromatosis]] </small> || ||
|-
| primary hyperuricemia syndrome <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> || ||
|-
| [[primary pulmonary hypertension]] || ||
|-
| primary senile degenerative dementia <br><small>''see'' [[Alzheimer's disease]] </small> || ||
|-
| [[prion disease]] || ||
|-
| procollagen type EDS VII, mutant <br><small>''see'' [[Ehlers-Danlos syndrome#arthrochalasia type]] </small> || ||
|-
| progeria <br><small>''see'' [[Hutchinson Gilford Progeria Syndrome]] </small> || ||
|-
| Progeria-like syndrome <br><small>''see'' [[Cockayne syndrome]] </small> || ||
|-
| progeroid nanism <br><small>''see'' [[Cockayne syndrome]] </small> || ||
|-
| progressive chorea, chronic hereditary (Huntington) <br><small>''see'' [[Huntington's disease]] </small> || ||
|-
| progressive muscular atrophy <br><small>''see'' [[spinal muscular atrophy]] </small> || ||
|-
| progressively deforming osteogenesis imperfecta with normal sclerae <br><small>''see'' [[Osteogenesis imperfecta#Type III]] </small> || ||
|-
| PROMM <br><small>''see'' [[Myotonic dystrophy#type 2]] </small> || ||
|-
| [[propionic acidemia]] || ||
|-
| propionyl-CoA carboxylase deficiency <br><small>''see'' [[propionic acidemia]] </small> || ||
|-
| [[protein C deficiency]] || ||
|-
| [[protein S deficiency]] || ||
|-
| protoporphyria <br><small>''see'' [[erythropoietic protoporphyria]] </small> || ||
|-
| protoporphyrinogen oxidase deficiency <br><small>''see'' [[variegate porphyria]] </small> || ||
|-
| proximal myotonic dystrophy <br><small>''see'' [[Myotonic dystrophy#type 2]] </small> || ||
|-
| proximal myotonic myopathy <br><small>''see'' [[Myotonic dystrophy#type 2]] </small> || ||
|-
| [[pseudo-Gaucher disease]] || ||
|-
| pseudo-Ullrich-Turner syndrome <br><small>''see'' [[Noonan syndrome]] </small> || ||
|-
| [[pseudoxanthoma elasticum]] || ||
|-
| psychosine lipidosis <br><small>''see'' [[Krabbe disease]] </small> || ||
|-
| pulmonary arterial hypertension <br><small>''see'' [[primary pulmonary hypertension]] </small> || ||
|-
| pulmonary hypertension <br><small>''see'' [[primary pulmonary hypertension]] </small> || ||
|-
| PWS <br><small>''see'' [[Prader-Willi syndrome]] </small> || ||
|-
| PXE - pseudoxanthoma elasticum <br><small>''see'' [[pseudoxanthoma elasticum]] </small> || ||
|-
| Rb <br><small>''see'' [[retinoblastoma]] </small> || ||
|-
| Recklinghausen disease, nerve <br><small>''see'' [[neurofibromatosis type I]] </small> || ||
|-
| Recurrent polyserositis <br><small>''see'' [[Mediterranean fever, familial]] </small> || ||
|-
| [[Retinal disorders]] || ||
|-
| Retinitis pigmentosa-deafness syndrome <br><small>''see'' [[Usher syndrome]] </small> || ||
|-
| [[Retinoblastoma]] || ||
|-
| [[Rett syndrome]] || ||
|-
| RFALS type 3 <br><small>''see'' [[Amyotrophic lateral sclerosis#type 2]] </small> || ||
|-
| Ricker syndrome <br><small>''see'' [[Myotonic dystrophy#type 2]] </small> || ||
|-
| Riley-Day syndrome <br><small>''see'' [[familial dysautonomia]] </small> || ||
|-
| Roussy-Levy syndrome <br><small>''see'' [[Charcot-Marie-Tooth disease]] </small> || ||
|-
| RSTS <br><small>''see'' [[Rubinstein-Taybi syndrome]] </small> || ||
|-
| RTS <br><small>''see'' [[Rett syndrome]] <br><small>''see'' [[Rubinstein-Taybi syndrome]] </small> || ||
|-
| RTT <br><small>''see'' [[Rett syndrome]] </small> || ||
|-
| [[Rubinstein-Taybi syndrome]] || ||
|-
| Sack-Barabas syndrome <br><small>''see'' [[Ehlers-Danlos syndrome, vascular type]] </small> || ||
|-
| [[SADDAN]] || ||
|-
| sarcoma family syndrome of Li and Fraumeni <br><small>''see'' [[Li-Fraumeni syndrome]] </small> || ||
|-
| sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome <br><small>''see'' [[Li-Fraumeni syndrome]] </small> || ||
|-
| SBLA syndrome <br><small>''see'' [[Li-Fraumeni syndrome]] </small> || ||
|-
| SBMA <br><small>''see'' [[X-linked spinal-bulbar muscle atrophy]] </small> || ||
|-
| SCD <br><small>''see'' [[sickle cell anemia]] </small> || ||
|-
| Schwannoma, acoustic, bilateral <br><small>''see'' [[neurofibromatosis type II]] </small> || ||
|-
| SCIDX1 <br><small>''see'' [[X-linked severe combined immunodeficiency]] </small> || ||
|-
| sclerosis tuberosa <br><small>''see'' [[tuberous sclerosis]] </small> || ||
|-
| SDAT <br><small>''see'' [[Alzheimer's disease]] </small> || ||
|-
| SED congenita <br><small>''see'' [[spondyloepiphyseal dysplasia congenita]] </small> || ||
|-
| SED Strudwick <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> || ||
|-
| SEDc <br><small>''see'' [[spondyloepiphyseal dysplasia congenita]] </small> || ||
|-
| SEMD, Strudwick type <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> || ||
|-
| senile dementia <br><small>''see'' [[Alzheimer disease#type 2]] </small> || ||
|-
| severe achondroplasia with developmental delay and acanthosis nigricans <br><small>''see'' [[SADDAN]] </small> || ||
|-
| Shprintzen syndrome <br><small>''see'' [[22q11.2 deletion syndrome]] </small> || D || 22q
|-
| [[sickle cell anemia]] || D || 18q
|-
| Siderius X-linked mental retardation syndrome <br><small>''caused by mutations in the [[PHF8]] gene''</small> || PD || Xp11.22
|-
| skeleton-skin-brain syndrome <br><small>''see'' [[SADDAN]] </small> || ||
|-
| [[Skin pigmentation disorders]] || ||
|-
| SMA <br><small>''see'' [[spinal muscular atrophy]] </small> || ||
|-
| SMED, Strudwick type <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> || ||
|-
| SMED, type I <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> || ||
|-
| [[Smith-Lemli-Opitz syndrome]] || ||
|-
| South-African genetic porphyria <br><small>''see'' [[variegate porphyria]] </small> || ||
|-
| spastic paralysis, infantile onset ascending <br><small>''see'' [[infantile-onset ascending hereditary spastic paralysis]] </small> || ||
|-
| [[Speech and communication disorders]] || ||
|-
| sphingolipidosis, Tay-Sachs <br><small>''see'' [[Tay-Sachs disease]] </small> || ||
|-
| [[spinal-bulbar muscular atrophy]] || ||
|-
| [[spinal muscular atrophy]] || ||
|-
| spinal muscular atrophy, distal type V <br><small>''see'' [[Distal spinal muscular atrophy#type V]] </small> || ||
|-
| spinal muscular atrophy, distal, with upper limb predominance <br><small>''see'' [[Distal spinal muscular atrophy#type V]] </small> || ||
|-
| [[spinocerebellar ataxia]] || ||
|-
| [[spondyloepimetaphyseal dysplasia, Strudwick type]] || ||
|-
| [[spondyloepiphyseal dysplasia congenita]] || ||
|-
| spondyloepiphyseal dysplasia <br><small>''see'' [[collagenopathy, types II and XI]] </small> || ||
|-
| spondylometaepiphyseal dysplasia congenita, Strudwick type <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> || ||
|-
| spondylometaphyseal dysplasia (SMD) <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> || ||
|-
| spondylometaphyseal dysplasia, Strudwick type <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> || ||
|-
| spongy degeneration of central nervous system <br><small>''see'' [[Canavan disease]] </small> || ||
|-
| spongy degeneration of the brain <br><small>''see'' [[Canavan disease]] </small> || ||
|-
| spongy degeneration of white matter in infancy <br><small>''see'' [[Canavan disease]] </small> || ||
|-
| sporadic primary pulmonary hypertension <br><small>''see'' [[primary pulmonary hypertension]] </small> || ||
|-
| SSB syndrome <br><small>''see'' [[SADDAN]] </small> || ||
|-
| steely hair syndrome <br><small>''see'' [[Menkes disease]] </small> || ||
|-
| Steinert disease <br><small>''see'' [[myotonic dystrophy]] </small> || ||
|-
| Steinert myotonic dystrophy syndrome <br><small>''see'' [[myotonic dystrophy]] </small> || ||
|-
| [[Stickler syndrome]] || ||
|-
| stroke <br><small>''see'' [[CADASIL syndrome]] </small> || ||
|-
| Strudwick syndrome <br><small>''see'' [[spondyloepimetaphyseal dysplasia, Strudwick type]] </small> || ||
|-
| subacute neuronopathic Gaucher disease <br><small>''see'' [[Gaucher disease type 3]] </small> || ||
|-
| Swedish genetic porphyria <br><small>''see'' [[acute intermittent porphyria]] </small> || ||
|-
| Swedish porphyria <br><small>''see'' [[acute intermittent porphyria]] </small> || ||
|-
| Swiss cheese cartilage dysplasia <br><small>''see'' [[Kniest dysplasia]] </small> || ||
|-
| [[Tay-Sachs disease]] || ||
|-
| TD - thanatophoric dwarfism <br><small>''see'' [[thanatophoric dysplasia]] </small> || ||
|-
| TD with straight femurs and cloverleaf skull <br><small>''see'' [[thanatophoric dysplasia#Type 2]] </small> || ||
|-
| Telangiectasia, cerebello-oculocutaneous <br><small>''see'' [[ataxia telangiectasia]] </small> || ||
|-
| Testicular feminization syndrome <br><small>''see'' [[androgen insensitivity syndrome]] </small> || ||
|-
| [[tetrahydrobiopterin deficiency]] || ||
|-
| TFM - testicular feminization syndrome <br><small>''see'' [[androgen insensitivity syndrome]] </small> || ||
|-
| thalassemia intermedia <br><small>''see'' [[beta-thalassemia]] </small> || ||
|-
| Thalassemia Major <br><small>''see'' [[beta-thalassemia]] </small> || ||
|-
| [[thanatophoric dysplasia]] || ||
|-
| [[thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness]] || ||
|-
| Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type <br><small>''see'' [[factor V Leiden thrombophilia]] </small> || ||
|-
| [[Thyroid disease]] || ||
|-
| Tomaculous neuropathy <br><small>''see'' [[hereditary neuropathy with liability to pressure palsies]] </small> || ||
|-
| Total HPRT deficiency <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> || ||
|-
| Total hypoxanthine-guanine phosphoribosyl transferase deficiency <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> || ||
|-
| Transmissible dementias <br><small>''see'' [[prion disease]] </small> || ||
|-
| Transmissible spongiform encephalopathies <br><small>''see'' [[prion disease]] </small> || ||
|-
| [[Treacher Collins syndrome]] || || 5q32-q33.1
|-
| Trias fragilitis ossium <br><small>''see'' [[osteogenesis imperfecta#Type I]] </small> || ||
|-
| [[triple X syndrome]] || ||
|-
| Triplo X syndrome <br><small>''see'' [[triple X syndrome]] </small> || ||
|-
| Trisomy 21 <br><small>''see'' [[Down syndrome]] </small> || ||
|-
| Trisomy X <br><small>''see'' [[triple X syndrome]] </small> || ||
|-
| Troisier-Hanot-Chauffard syndrome <br><small>''see'' [[hemochromatosis]] </small> || ||
|-
| TS <br><small>''see'' [[Turner syndrome]] </small> || ||
|-
| TSD <br><small>''see'' [[Tay-Sachs disease]] </small> || ||
|-
| TSEs <br><small>''see'' [[prion disease]] </small> || ||
|-
| tuberose sclerosis <br><small>''see'' [[tuberous sclerosis]] </small> || ||
|-
| [[tuberous sclerosis]] || ||
|-
| [[Turner syndrome]] || ||
|-
| Turner syndrome in female with X chromosome <br><small>''see'' [[Noonan syndrome]] </small> || ||
|-
| Turner's phenotype, karyotype normal <br><small>''see'' [[Noonan syndrome]] </small> || ||
|-
| Turner's syndrome <br><small>''see'' [[Turner syndrome]] </small> || ||
|-
| Turner-like syndrome <br><small>''see'' [[Noonan syndrome]] </small> || ||
|-
| Type 2 Gaucher disease <br><small>''see'' [[Gaucher disease type 2]] </small> || ||
|-
| Type 3 Gaucher disease <br><small>''see'' [[Gaucher disease type 3]] </small> || ||
|-
| UDP-galactose-4-epimerase deficiency disease <br><small>''see'' [[galactosemia]] </small> || ||
|-
| UDP glucose 4-epimerase deficiency disease <br><small>''see'' [[galactosemia]] </small> || ||
|-
| UDP glucose hexose-1-phosphate uridylyltransferase deficiency <br><small>''see'' [[galactosemia]] </small> || ||
|-
| Ullrich-Noonan syndrome <br><small>''see'' [[Noonan syndrome]] </small> || ||
|-
| Ullrich-Turner syndrome <br><small>''see'' [[Turner syndrome]] </small> || ||
|-
| Undifferentiated deafness <br><small>''see'' [[nonsyndromic deafness]] </small> || ||
|-
| UPS deficiency <br><small>''see'' [[acute intermittent porphyria]] </small> || ||
|-
| Urinary bladder cancer <br><small>''see'' [[bladder cancer]] </small> || ||
|-
| UROD deficiency <br><small>''see'' [[porphyria cutanea tarda]] </small> || ||
|-
| Uroporphyrinogen decarboxylase deficiency <br><small>''see'' [[porphyria cutanea tarda]] </small> || ||
|-
| Uroporphyrinogen synthase deficiency <br><small>''see'' [[acute intermittent porphyria]] </small> || ||
|-
| UROS deficiency <br><small>''see'' [[congenital erythropoietic porphyria]] </small> || ||
|-
| [[Usher syndrome]] || ||
|-
| UTP hexose-1-phosphate uridylyltransferase deficiency <br><small>''see'' [[galactosemia]] </small> || ||
|-
| Van Bogaert-Bertrand syndrome <br><small>''see'' [[Canavan disease]] </small> || ||
|-
| Van der Hoeve syndrome <br><small>''see'' [[osteogenesis imperfecta#Type I]] </small> || ||
|-
| [[variegate porphyria]] || ||
|-
| Velocardiofacial syndrome <br><small>''see'' [[22q11.2 deletion syndrome]] </small> || D || 22q
|-
| VHL syndrome <br><small>''see'' [[von Hippel-Lindau disease]] </small> || ||
|-
| Vision impairment and blindness <br><small>''see'' [[Alström syndrome]] </small> || ||
|-
| Von Bogaert-Bertrand disease <br><small>''see'' [[Canavan disease]] </small> || ||
|-
| [[von Hippel-Lindau disease]] || ||
|-
| Von Recklenhausen-Applebaum disease <br><small>''see'' [[hemochromatosis]] </small> || ||
|-
| von Recklinghausen disease <br><small>''see'' [[neurofibromatosis type I]] </small> || ||
|-
| VP <br><small>''see'' [[variegate porphyria]] </small> || ||
|-
| Vrolik disease <br><small>''see'' [[osteogenesis imperfecta]] </small> || ||
|-
| [[Waardenburg syndrome]] || ||
|-
| Warburg Sjo Fledelius Syndrome <br><small>''see'' [[Micro syndrome]] </small> || || 2q21.3 
|-
| WD <br><small>''see'' [[Wilson disease]] </small> || ||
|-
| [[Weissenbacher-Zweymüller syndrome]] || ||
|-
| [[Williams Syndrome]] || ||
|-
| [[Wilson disease]] || ||
|-
| Wilson's disease <br><small>''see'' [[Wilson disease]] </small> || ||
|-
| [[Wolf–Hirschhorn syndrome]] || D || 4p
|-
| Wolff Periodic disease <br><small>''see'' [[Mediterranean fever, familial]] </small> || ||
|-
| WZS <br><small>''see'' [[Weissenbacher-Zweymüller syndrome]] </small> || ||
|-
| [[Xeroderma pigmentosum]] || ERCC4 || 15
|-
| X-linked mental retardation and macroorchidism <br><small>''see'' [[fragile X syndrome]] </small> || ||
|-
| X-linked primary hyperuricemia <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> || ||
|-
| [[X-linked severe combined immunodeficiency]] || ||
|-
| [[X-linked sideroblastic anemia]] || ||
|-
| X-linked spinal-bulbar muscle atrophy <br><small>''see'' [[Kennedy's disease]] </small> || ||
|-
| X-linked uric aciduria enzyme defect <br><small>''see'' [[Lesch-Nyhan syndrome]] </small> || ||
|-
| X-SCID <br><small>''see'' [[X-linked severe combined immunodeficiency]] </small> || ||
|-
| XLSA <br><small>''see'' [[X-linked sideroblastic anemia]] </small> || ||
|-
| XSCID <br><small>''see'' [[X-linked severe combined immunodeficiency]] </small> || ||
|-
| XXX syndrome <br><small>''see'' [[triple X syndrome]] </small> || ||
|-
| XXXX syndrome <br><small>''see'' [[48, XXXX]] </small> || ||
|-
| XXXXX syndrome <br><small>''see'' [[49, XXXXX]] </small> || ||
|-
| XXY syndrome <br><small>''see'' [[Klinefelter's syndrome]] </small> || ||
|-
| XXY trisomy <br><small>''see'' [[Klinefelter's syndrome]] </small> || ||
|-
| XYY karyotype <br><small>''see'' [[47,XYY syndrome]] </small> || ||
|-
| XYY syndrome <br><small>''see'' [[47,XYY syndrome]] </small> || ||
|-
| YY syndrome <br><small>''see'' [[47,XYY syndrome]] </small> || ||
|}

==References==
<references/>

[[Category:Lists of diseases|Genetic disorders]]
[[Category:Genetic disorders|*]]

[[es:Lista de enfermedades genéticas]]
[[fr: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]]
[[Category:2Fix]]