list of genetic disorders

The following is a list of genetic disorders and their origins. Beside most disorders is a code that indicates the type of mutation and the chromosome involved.

Disorder	Mutation	Chromosome
Angelman syndrome	DCP	15
Canavan disease	\|
Charcot-Marie-Tooth disease	\|
color blindness	P	X
Cystic fibrosis	P
Down syndrome	C	21
haemophilia	P	X
Joubert syndrome	\|
Klinefelter syndrome	C	X
Neurofibromatosis	\|
Pelizaeus-Merzbacher disease	\|
phenylketonuria	P
Prader-Willi syndrome	DC	15
Spina bifida	P	1
Tay-Sachs disease	P
Turner syndrome	C	X

Legend:

P - Point mutation, or any insertion/deletion entirely inside one gene
D - Deletion of a gene or genes
C - Whole chromosome extra, missing, or both

A more comprehensive list

#

Disorder	Mutation	Chromosome
21-hydroxylase deficiency	\|
45,X see Turner syndrome	\|
47,XX,+21 see Down syndrome	\|
47,XXX see triple X syndrome	\|
47,XXY see Klinefelter syndrome	\|
47,XY,+21 see Down syndrome	\|
47,XYY syndrome	\|
5-ALA dehydratase-deficient porphyria see ALAD deficiency porphyria	\|
5-aminolaevulinic dehydratase deficiency porphyria see ALAD deficiency porphyria	\|
5p deletion syndrome see cri-du-chat syndrome	\|
5p- syndrome see cri-du-chat syndrome	\|

A

Disorder	Mutation	Chromosome
A-T see ataxia-telangiectasia	\|
AAT see alpha-1 antitrypsin deficiency	\|
Absence of vas deferens see congenital bilateral absence of vas deferens	\|
Absent vasa see congenital bilateral absence of vas deferens	\|
ACG2 see achondrogenesis, type II	\|
ACH see achondroplasia	\|
achondrogenesis, type II	\|
achondroplasia	\|
Acid beta-glucosidase deficiency see Gaucher disease, type 1	\|
Acrocephalosyndactyly (Apert) see Apert syndrome	\|
acrocephalosyndactyly, type V see Pfeiffer syndrome	\|
Acrocephaly see Apert syndrome	\|
Acute cerebral Gaucher's disease see Gaucher disease, type 2	\|
acute intermittent porphyria	\|
ACY2 deficiency see Canavan disease	\|
AD see Alzheimer 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 ALAD deficiency porphyria	\|
Adrenal Gland Disorders see 21-hydroxylase deficiency	\|
Adrenogenital syndrome see 21-hydroxylase deficiency	\|
AIP see acute intermittent porphyria	\|
AIS see androgen insensitivity syndrome	\|
AKU see alkaptonuria	\|
ALA dehydratase porphyria see ALAD deficiency porphyria	\|
ALA-D porphyria see ALAD deficiency porphyria	\|
ALAD deficiency porphyria	\|
Alcaptonuria see alkaptonuria	\|
Alexander disease	\|
alkaptonuria	\|
Alkaptonuric ochronosis see alkaptonuria	\|
alpha-1 antitrypsin deficiency	\|
alpha-1 proteinase inhibitor see alpha-1 antitrypsin deficiency	\|
alpha-1 related emphysema see alpha-1 antitrypsin deficiency	\|
Alpha-galactosidase A deficiency see Fabry disease	\|
ALS see amyotrophic lateral sclerosis	\|
Alstrm syndrome	\|
ALX see Alexander disease	\|
Alzheimer disease	\|
Alzheimer's disease see Alzheimer disease	\|
Amino levulinic acid dehydratase deficiency see ALAD deficiency porphyria	\|
Aminoacylase 2 deficiency see Canavan disease	\|
amyotrophic lateral sclerosis	\|
Anderson-Fabry disease see Fabry disease	\|
androgen insensitivity syndrome	\|
Anemia	\|
Anemia, hereditary sideroblastic see X-linked sideroblastic anemia	\|
Anemia, sex-linked hypochromic sideroblastic see X-linked sideroblastic anemia	\|
Anemia, splenic, familial see Gaucher disease	\|
Angelman syndrome	\|
Angiokeratoma Corporis Diffusum see Fabry disease	\|
Angiokeratoma diffuse see Fabry disease	\|
Angiomatosis retinae see von Hippel-Lindau disease	\|
ANH1 see X-linked sideroblastic anemia	\|
APC resistance, Leiden type see factor V Leiden thrombophilia	\|
Apert syndrome	\|
AR deficiency see androgen insensitivity syndrome	\|
AR-CMT2 see Charcot-Marie-Tooth disease, type 2	\|
Arachnodactyly see Marfan syndrome	\|
ARNSHL see nonsyndromic deafness, autosomal recessive	\|
Arthro-ophthalmopathy, hereditary progressive see Stickler syndrome, COL2A1	\|
Arthrochalasis multiplex congenita see Ehlers-Danlos syndrome, arthrochalasia type	\|
AS see Angelman syndrome	\|
Asp deficiency see Canavan disease	\|
Aspa deficiency see Canavan disease	\|
Aspartoacylase deficiency see Canavan disease	\|
ataxia-telangiectasia	\|
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome see Rett syndrome	\|
autosomal dominant juvenile ALS see amyotrophic lateral sclerosis, type 4	\|
autosomal recessive form of juvenile ALS type 3 see amyotrophic lateral sclerosis, type 2	\|
Autosomal recessive nonsyndromic hearing loss see nonsyndromic deafness, autosomal recessive	\|
Autosomal Recessive Sensorineural Hearing Impairment and Goiter see Pendred syndrome	\|
AxD see Alexander disease	\|
Ayerza syndrome see primary pulmonary hypertension	\|

B

Disorder	Mutation	Chromosome
B variant GM2 gangliosidosis see Tay-Sachs disease	\|
BANF see neurofibromatosis 2	\|
Beare-Stevenson cutis gyrata syndrome	\|
Benign paroxysmal peritonitis see Mediterranean fever, familial	\|
beta thalassemia	\|
BH4 Deficiency see tetrahydrobiopterin deficiency	\|
Bilateral Acoustic Neurofibromatosis see neurofibromatosis 2	\|
biotinidase deficiency	\|
bladder cancer	\|
Bleeding Disorders see factor V Leiden thrombophilia	\|
Bloch-Sulzberger syndrome see incontinentia pigmenti	\|
Bone diseases	\|
Bone Marrow diseases see X-linked sideroblastic anemia	\|
Bonnevie-Ullrich syndrome see Turner syndrome	\|
Bourneville disease see tuberous sclerosis	\|
Bourneville Phakomatosis see tuberous sclerosis	\|
Brain diseases see prion disease	\|
breast cancer	\|
a href="/encyclopedia/Birt-Hogg-Dub-syndrome" title="Birt-Hogg-Dub syndrome">Birt-Hogg-Dub syndrome	\|17
Brittle bone disease see osteogenesis imperfecta	\|
Broad Thumb-Hallux syndrome see Rubinstein-Taybi syndrome	\|
Bronze Diabetes see hemochromatosis	\|
Bronzed cirrhosis see hemochromatosis	\|
Bulbospinal muscular atrophy, X-linked see spinal and bulbar muscular atrophy	\|
Burger-Grutz syndrome see lipoprotein lipase deficiency, familial	\|

C

Disorder	Mutation	Chromosome
CADASIL	\|
Canavan disease	\|
Cancer	\|
Cancer Family syndrome see hereditary nonpolyposis colorectal cancer	\|
Cancer of breast see breast cancer	\|
Cancer of the bladder see bladder cancer	\|
Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency	\|
Cardiomyopathy see Noonan syndrome	\|
Carpal Tunnel syndrome see hereditary neuropathy with liability to pressure palsies	\|
Cat cry syndrome see cri-du-chat syndrome	\|
CAVD see congenital bilateral absence of vas deferens	\|
CBAVD see congenital bilateral absence of vas deferens	\|
CEP see congenital erythropoietic porphyria	\|
Ceramide trihexosidase deficiency see Fabry disease	\|
Cerebelloretinal Angiomatosis, familial see von Hippel-Lindau disease	\|
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy see CADASIL	\|
Cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy see CADASIL	\|
cerebral sclerosis see tuberous sclerosis	\|
Cerebroatrophic Hyperammonemia see Rett syndrome	\|
Cerebroside Lipidosis syndrome see Gaucher disease	\|
CF see cystic fibrosis	\|
CH see congenital hypothyroidism	\|
Charcot disease see amyotrophic lateral sclerosis	\|
Charcot-Marie-Tooth disease	\|
Chondrodystrophia see achondroplasia	\|
Chondrodystrophy syndrome see achondroplasia	\|
Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia	\|
Chondrogenesis imperfecta see achondrogenesis, type II	\|
Choreoathetosis self-mutilation hyperuricemia syndrome see Lesch-Nyhan syndrome	\|
Classic Galactosemia see galactosemia	\|
Classical Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, classical type	\|
Classical Phenylketonuria see phenylketonuria	\|
Cleft Lip and Palate see Stickler syndrome	\|
Cloverleaf skull with thanatophoric dwarfism see thanatophoric dysplasia, type 2	\|
CLS see Coffin-Lowry syndrome	\|
CMT see Charcot-Marie-Tooth disease	\|
Cockayne syndrome	\|
Coffin-Lowry syndrome	\|
collagenopathy, types II and XI	\|
Colon Cancer, familial Nonpolyposis see hereditary nonpolyposis colorectal cancer	\|
Colon cancer, familial see familial adenomatous polyposis	\|
Colorectal Cancer	\|
Complete HPRT deficiency see Lesch-Nyhan syndrome	\|
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome	\|
compression neuropathy see hereditary neuropathy with liability to pressure palsies	\|
Congenital Adrenal Hyperplasia see 21-hydroxylase deficiency	\|
congenital bilateral absence of vas deferens	\|
congenital erythropoietic porphyria	\|
Congenital Heart disease	\|
congenital hypomyelination see Charcot-Marie-Tooth disease, type 1 see Charcot-Marie-Tooth disease, type 4	\|
congenital hypothyroidism	\|
congenital methemoglobinemia see methemoglobinemia, beta-globin type	\|
Congenital osteosclerosis see achondroplasia	\|
Congenital sideroblastic anaemia see X-linked sideroblastic anemia	\|
Connective Tissue Disorders	\|
Cooley's Anemia see beta thalassemia	\|
Copper storage disease see Wilson disease	\|
Copper transport disease see Menkes syndrome	\|
Coproporphyria, hereditary see hereditary coproporphyria	\|
Coproporphyrinogen oxidase deficiency see hereditary coproporphyria	\|
Cowden syndrome	\|
CPO deficiency see hereditary coproporphyria	\|
CPRO deficiency see hereditary coproporphyria	\|
CPX deficiency see hereditary coproporphyria	\|
Craniofacial dysarthrosis see Crouzon syndrome	\|
Craniofacial Dysostosis see Crouzon syndrome	\|
Cretinism see congenital hypothyroidism	\|
Creutzfeldt-Jakob disease see prion disease	\|
cri-du-chat syndrome	\|
Crouzon syndrome	\|
Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome	\|
Crouzonodermoskeletal syndrome	\|
CS see Cockayne syndrome see Cowden syndrome	\|
Curschmann-Batten-Steinert syndrome see myotonic dystrophy	\|
cutis gyrata syndrome of Beare-Stevenson see Beare-Stevenson cutis gyrata syndrome	\|
cystic fibrosis	\|

D

Disorder	Mutation	Chromosome
D-glycerate dehydrogenase deficiency see hyperoxaluria, primary	\|
Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type	\|
DAT - Dementia Alzheimer's type see Alzheimer disease	\|
DBMD see muscular dystrophy, Duchenne and Becker types	\|
Deafness with goiter see Pendred syndrome	\|
Deafness-retinitis pigmentosa syndrome see Usher syndrome	\|
Deficiency disease, Phenylalanine Hydroxylase see phenylketonuria	\|
Degenerative Nerve diseases	\|
Dejerine-Sottas syndrome see Charcot-Marie-Tooth disease	\|
Delta-aminolevulinate dehydratase deficiency porphyria see ALAD deficiency porphyria	\|
Dementia see CADASIL	\|
demyelinogenic leukodystrophy see Alexander disease	\|
Dermatosparactic type of Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, dermatosparaxis type	\|
Dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type	\|
Developmental Disabilities	\|
dHMN see amyotrophic lateral sclerosis, type 4	\|
DHMN-V see distal spinal muscular atrophy, type V	\|
DHTR deficiency see androgen insensitivity syndrome	\|
Diffuse Globoid Body Sclerosis see Krabbe disease	\|
Dihydrotestosterone receptor deficiency see androgen insensitivity syndrome	\|
distal spinal muscular atrophy, type V	\|
DM1 see myotonic dystrophy, type 1	\|
DM2 see myotonic dystrophy, type 2	\|
Down syndrome	\|
DSMAV see distal spinal muscular atrophy, type V	\|
DSN see Charcot-Marie-Tooth disease, type 4	\|
DSS see Charcot-Marie-Tooth disease, type 4	\|
Duchenne/Becker muscular dystrophy see muscular dystrophy, Duchenne and Becker types	\|
Dwarf, achondroplastic see achondroplasia	\|
Dwarf, thanatophoric see thanatophoric dysplasia	\|
Dwarfism	\|
Dwarfism-retinal atrophy-deafness syndrome see Cockayne syndrome	\|
dysmyelinogenic leukodystrophy see Alexander disease	\|
Dystrophia myotonica see myotonic dystrophy	\|
dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome	\|

E

Disorder	Mutation	Chromosome
Early-Onset familial Alzheimer disease (EOFAD) see Alzheimer disease, type 1 see Alzheimer disease, type 3 see Alzheimer disease, type 4	\|
EDS see Ehlers-Danlos syndrome	\|
Ehlers-Danlos syndrome	\|
Ekman-Lobstein disease see osteogenesis imperfecta	\|
entrapment neuropathy see hereditary neuropathy with liability to pressure palsies	\|
Epiloia see tuberous sclerosis	\|
EPP see erythropoietic protoporphyria	\|
Erythroblastic Anemia see beta thalassemia	\|
Erythrohepatic protoporphyria see erythropoietic protoporphyria	\|
Erythroid 5-aminolevulinate synthetase deficiency see X-linked sideroblastic anemia	\|
Erythropoietic Porphyria see congenital erythropoietic porphyria	\|
erythropoietic protoporphyria	\|
Erythropoietic uroporphyria see congenital erythropoietic porphyria	\|
Eye cancer see retinoblastoma FA - Friedreich ataxia see Friedreich ataxia	\|

F

Disorder	Mutation	Chromosome
Fabry disease	\|
Facial Injuries and Disorders	\|
factor V Leiden thrombophilia	\|
FALS see amyotrophic lateral sclerosis	\|
familial Acoustic Neuromas see neurofibromatosis 2	\|
familial adenomatous polyposis	\|
familial Alzheimer disease (FAD) see Alzheimer disease	\|
familial amyotrophic lateral sclerosis see amyotrophic lateral sclerosis	\|
familial dysautonomia	\|
familial fat-induced hypertriglyceridemia see lipoprotein lipase deficiency, familial	\|
familial Hemochromatosis see hemochromatosis	\|
familial LPL deficiency see lipoprotein lipase deficiency, familial	\|
familial nonpolyposis colon cancer see hereditary nonpolyposis colorectal cancer	\|
familial paroxysmal polyserositis see Mediterranean fever, familial	\|
familial PCT see porphyria cutanea tarda	\|
familial pressure sensitive neuropathy see hereditary neuropathy with liability to pressure palsies	\|
familial primary pulmonary hypertension (FPPH) see primary pulmonary hypertension	\|
familial Turner syndrome see Noonan syndrome	\|
familial vascular leukoencephalopathy see CADASIL	\|
FAP see familial adenomatous polyposis	\|
FD see familial dysautonomia	\|
Female Pseudo-Turner syndrome see Noonan syndrome	\|
Ferrochelatase deficiency see erythropoietic protoporphyria	\|
ferroportin disease see hemochromatosis, type 4	\|
Fever see Mediterranean fever, familial	\|
FGFR3-associated coronal synostosis see Muenke syndrome	\|
fibrinoid degeneration of astrocytes see Alexander disease	\|
Fibrocystic disease of Pancreas see cystic fibrosis	\|
FMF see Mediterranean fever, familial	\|
Folling disease see phenylketonuria	\|
fra(X) syndrome see fragile X syndrome	\|
fragile X syndrome	\|
Fragilitas ossium see osteogenesis imperfecta	\|
FRAXA syndrome see fragile X syndrome	\|
FRDA see Friedreich ataxia	\|
Friedreich ataxia	\|
FXS see fragile X syndrome	\|

G

Disorder	Mutation	Chromosome
Galactokinase Deficiency disease see galactosemia	\|
Galactose-1-Phosphate Uridyl-Transferase Deficiency disease see galactosemia	\|
galactosemia	\|
Galactosylceramidase Deficiency disease see Krabbe disease	\|
Galactosylceramide lipidosis see Krabbe disease	\|
galactosylcerebrosidase deficiency see Krabbe disease	\|
galactosylsphingosine lipidosis see Krabbe disease	\|
GALC deficiency see Krabbe disease	\|
GALT Deficiency see galactosemia	\|
Gaucher disease	\|
Gaucher's disease	\|
Gaucher-Like disease see pseudo-Gaucher disease	\|
GBA deficiency see Gaucher disease, type 1	\|
GD see Gaucher disease	\|
Genetic Brain Disorders	\|
genetic emphysema see alpha-1 antitrypsin deficiency	\|
genetic hemochromatosis see hemochromatosis	\|
Giant cell hepatitis, neonatal see hemochromatosis, neonatal	\|
GLA deficiency see Fabry disease	\|
Glioblastoma, retinal see retinoblastoma	\|
Glioma, retinal see retinoblastoma	\|
globoid cell leukodystrophy (GCL, GLD) see Krabbe disease	\|
globoid cell leukoencephalopathy see Krabbe disease	\|
Glucocerebrosidase deficiency see Gaucher disease	\|
Glucocerebrosidosis see Gaucher disease	\|
Glucosyl cerebroside lipidosis see Gaucher disease	\|
Glucosylceramidase deficiency see Gaucher disease	\|
Glucosylceramide beta-glucosidase deficiency see Gaucher disease	\|
Glucosylceramide lipidosis see Gaucher disease	\|
glyceric aciduria see hyperoxaluria, primary	\|
glycolic aciduria see hyperoxaluria, primary	\|
GM2 gangliosidosis, type 1 see Tay-Sachs disease	\|
Goiter-deafness syndrome see Pendred syndrome	\|
Graefe-Usher syndrome see Usher syndrome	\|
Gronblad-Strandberg syndrome see pseudoxanthoma elasticum	\|
Guenther porphyria see congenital erythropoietic porphyria	\|
Gunther disease see congenital erythropoietic porphyria	\|

H

Disorder	Mutation	Chromosome
Haemochromatosis see hemochromatosis	\|
Hallgren syndrome see Usher syndrome	\|
Hb S disease see sickle cell anemia	\|
HCH see hypochondroplasia	\|
HCP see hereditary coproporphyria	\|
Head and Brain Malformations	\|
Hearing Disorders and Deafness	\|
Hearing Problems in Children	\|
HEF2A see hemochromatosis, type 2	\|
HEF2B see hemochromatosis, type 2	\|
Hematoporphyria see porphyria	\|
Heme synthetase deficiency see erythropoietic protoporphyria	\|
Hemochromatoses see hemochromatosis	\|
hemochromatosis	\|
hemoglobin M disease see methemoglobinemia, beta-globin type	\|
Hemoglobin S disease see sickle cell anemia	\|
hemophilia	\|
HEP see hepatoerythropoietic porphyria	\|
hepatic AGT deficiency see hyperoxaluria, primary	\|
hepatoerythropoietic porphyria	\|
Hepatolenticular degeneration syndrome see Wilson disease	\|
hereditary arthro-ophthalmopathy see Stickler syndrome	\|
hereditary coproporphyria	\|
hereditary dystopic lipidosis see Fabry disease	\|
hereditary Hemochromatosis (HHC) see hemochromatosis	\|
hereditary iron-loading anemia see X-linked sideroblastic anemia	\|
hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease	\|
hereditary motor neuronopathy see spinal muscular atrophy	\|
hereditary motor neuronopathy, type V see distal spinal muscular atrophy, type V	\|
hereditary neuropathy with liability to pressure palsies	\|
hereditary nonpolyposis colorectal cancer	\|
hereditary Periodic Fever syndromes see Mediterranean fever, familial	\|
hereditary Polyposis Coli see familial adenomatous polyposis	\|
hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency	\|
hereditary resistance to activated protein C see factor V Leiden thrombophilia	\|
hereditary sensory and autonomic neuropathy type III see familial dysautonomia	\|
hereditary Spastic Paraplegia see infantile-onset ascending hereditary spastic paralysis	\|
hereditary spinal ataxia see Friedreich ataxia	\|
hereditary Spinal Sclerosis see Friedreich ataxia	\|
Herrick's anemia see sickle cell anemia	\|
Heterozygous OSMED see Weissenbacher-Zweymller syndrome	\|
Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymller syndrome	\|
HexA deficiency see Tay-Sachs disease	\|
Hexosaminidase A deficiency see Tay-Sachs disease	\|
Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease	\|
HFE-associated hemochromatosis see hemochromatosis	\|
HGPS see Hutchinson-Gilford progeria syndrome	\|
Hippel-Lindau disease see von Hippel-Lindau disease	\|
HLAH see hemochromatosis	\|
HMN V see distal spinal muscular atrophy, type V	\|
HMSN see Charcot-Marie-Tooth disease	\|
HNPCC see hereditary nonpolyposis colorectal cancer	\|
HNPP see hereditary neuropathy with liability to pressure palsies	\|
homocystinuria	\|
Homogentisic acid oxidase deficiency see alkaptonuria	\|
Homogentisic acidura see alkaptonuria	\|
Homozygous porphyria cutanea tarda see hepatoerythropoietic porphyria	\|
HP1 see hyperoxaluria, primary	\|
HP2 see hyperoxaluria, primary	\|
HPA see hyperphenylalaninemia	\|
HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome	\|
HSAN Type III see familial dysautonomia	\|
HSAN3 see familial dysautonomia	\|
HSN-III see familial dysautonomia	\|
Human dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type	\|
Huntington disease	\|
Huntington's disease see Huntington disease	\|
Hutchinson-Gilford progeria syndrome	\|
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency see 21-hydroxylase deficiency	\|
Hyperchylomicronemia, familial see lipoprotein lipase deficiency, familial	\|
hyperglycinemia with ketoacidosis and leukopenia see propionic acidemia	\|
Hyperlipoproteinemia Type I see lipoprotein lipase deficiency, familial	\|
hyperoxaluria, primary	\|
hyperphenylalaninaemia see hyperphenylalaninemia	\|
hyperphenylalaninemia	\|
Hypochondrodysplasia see hypochondroplasia	\|
hypochondrogenesis	\|
hypochondroplasia	\|
Hypochromic anemia see X-linked sideroblastic anemia	\|
Hypocupremia, Congenital see Menkes syndrome	\|
hypoxanthine phosphoribosyltransferse (HPRT) deficiency see Lesch-Nyhan syndrome	\|

I

Disorder	Mutation	Chromosome
IAHSP see infantile-onset ascending hereditary spastic paralysis	\|
idiopathic hemochromatosis see hemochromatosis, type 3	\|
Idiopathic neonatal hemochromatosis see hemochromatosis, neonatal	\|
Idiopathic pulmonary hypertension see primary pulmonary hypertension	\|
Immune System and Disorders see X-linked severe combined immunodeficiency	\|
incontinentia pigmenti	\|
Infantile cerebral Gaucher's disease see Gaucher disease, type 2	\|
Infantile Gaucher disease see Gaucher disease, type 2	\|
infantile-onset ascending hereditary spastic paralysis	\|
Infertility	\|
inherited emphysema see alpha-1 antitrypsin deficiency	\|
Inherited Human Transmissible Spongiform Encephalopathies see prion disease	\|
inherited tendency to pressure palsies see hereditary neuropathy with liability to pressure palsies	\|
Insley-Astley syndrome see otospondylomegaepiphyseal dysplasia	\|
Intermittent acute porphyria syndrome see acute intermittent porphyria	\|
Intestinal polyposis-cutaneous pigmentation syndrome see Peutz-Jeghers syndrome	\|
IP see incontinentia pigmenti	\|
Iron storage disorder see hemochromatosis	\|
Isolated deafness see nonsyndromic deafness	\|

J

Disorder	Mutation	Chromosome
Jackson-Weiss syndrome	\|
JH see hemochromatosis, type 2	\|
JPLS see primary lateral sclerosis, juvenile	\|
juvenile amyotrophic lateral sclerosis see amyotrophic lateral sclerosis, type 2	\|
Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome	\|
juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome	\|
juvenile PLS see primary lateral sclerosis, juvenile	\|
JWS see Jackson-Weiss syndrome	\|

K

Disorder	Mutation	Chromosome
KD see spinal and bulbar muscular atrophy	\|
Kennedy disease see spinal and bulbar muscular atrophy	\|
Kennedy spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy	\|
Kerasin histiocytosis see Gaucher disease	\|
Kerasin lipoidosis see Gaucher disease	\|
Kerasin thesaurismosis see Gaucher disease	\|
ketotic glycinemia see propionic acidemia	\|
ketotic hyperglycinemia see propionic acidemia	\|
Kidney diseases see hyperoxaluria, primary	\|
Kinky Hair syndrome see Menkes syndrome	\|
Klinefelter syndrome	\|
Klinefelter's syndrome see Klinefelter syndrome	\|
Kniest dysplasia	\|
Krabbe disease	\|

L

Disorder	Mutation	Chromosome
Lacunar Dementia see CADASIL	\|
Langer-Saldino achondrogenesis see achondrogenesis, type II	\|
Langer-Saldino dysplasia see achondrogenesis, type II	\|
Late Onset Alzheimer disease see Alzheimer disease, type 2	\|
Late-Onset familial Alzheimer disease (AD2) see Alzheimer disease, type 2	\|
late-onset Krabbe disease (LOKD) see Krabbe disease	\|
Learning Disorders	\|
Lentiginosis, Perioral see Peutz-Jeghers syndrome	\|
Lesch-Nyhan syndrome	\|
Leukodystrophies	\|
leukodystrophy with Rosenthal fibers see Alexander disease	\|
Leukodystrophy, spongiform see Canavan disease	\|
LFS see Li-Fraumeni syndrome	\|
Li-Fraumeni syndrome	\|
Lipase D deficiency see lipoprotein lipase deficiency, familial	\|
LIPD deficiency see lipoprotein lipase deficiency, familial	\|
Lipidosis, cerebroside see Gaucher disease	\|
Lipidosis, ganglioside, infantile see Tay-Sachs disease	\|
Lipoid histiocytosis (kerasin type) see Gaucher disease	\|
lipoprotein lipase deficiency, familial	\|
Liver diseases see galactosemia	\|
Lou Gehrig disease see amyotrophic lateral sclerosis	\|
Louis-Bar syndrome see ataxia-telangiectasia	\|
Lynch syndrome see hereditary nonpolyposis colorectal cancer	\|
Lysyl-hydroxylase deficiency see Ehlers-Danlos syndrome, kyphoscoliosis type	\|

M

Disorder	Mutation	Chromosome
Male Breast Cancer see breast cancer	\|
Male Genital Disorders	\|
Male Turner syndrome see Noonan syndrome	\|
Malignant neoplasm of breast see breast cancer	\|
malignant tumor of breast see breast cancer	\|
Malignant tumor of urinary bladder see bladder cancer	\|
Mammary cancer see breast cancer	\|
Marfan syndrome	\|
Marker X syndrome see fragile X syndrome	\|
Martin-Bell syndrome see fragile X syndrome	\|
Mediterranean Anemia see beta thalassemia	\|
Mediterranean fever, familial	\|
Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia	\|
Menkea syndrome see Menkes syndrome	\|
Menkes syndrome	\|
Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome	\|
Metabolic Disorders	\|
Metatropic dwarfism, type II see Kniest dysplasia	\|
Metatropic dysplasia type II see Kniest dysplasia	\|
methemoglobinemia, beta-globin type	\|
methylmalonic acidemia	\|
MFS see Marfan syndrome	\|
MHAM see Cowden syndrome	\|
MK - Menkes syndrome see Menkes syndrome	\|
MMA see methylmalonic acidemia	\|
MNK - Menkes syndrome see Menkes syndrome	\|
monosomy X see Turner syndrome	\|
Motor Neuron disease, Amyotrophic Lateral Sclerosis see amyotrophic lateral sclerosis	\|
Movement Disorders	\|
Mucoviscidosis see cystic fibrosis	\|
Muenke syndrome	\|
Multi-Infarct Dementia see CADASIL	\|
Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency	\|
Multiple hamartoma syndrome see Cowden syndrome	\|
Multiple neurofibromatosis see neurofibromatosis	\|
Muscular Dystrophy	\|
muscular dystrophy, Duchenne and Becker types	\|
Myotonia atrophica see myotonic dystrophy	\|
Myotonia dystrophica see myotonic dystrophy	\|
myotonic dystrophy	\|
Myxedema, Congenital see congenital hypothyroidism	\|

N

Disorder	Mutation	Chromosome
Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia	\|
Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia	\|
NBIA1 see pantothenate kinase-associated neurodegeneration	\|
Neill-Dingwall syndrome see Cockayne syndrome	\|
Neuroblastoma, retinal see retinoblastoma	\|
Neurodegeneration with Brain Iron Accumulation Type 1 see pantothenate kinase-associated neurodegeneration	\|
neurofibromatosis	\|
Neurologic diseases	\|
Neuromuscular Disorders	\|
neuronopathy, distal hereditary motor, type V see distal spinal muscular atrophy, type V	\|
neuronopathy, distal hereditary motor, with pyramidal features see amyotrophic lateral sclerosis, type 4	\|
NF see neurofibromatosis	\|
Noack syndrome see Pfeiffer syndrome	\|
Non-Neuronopathic Gaucher disease see Gaucher disease, type 1	\|
Non-Phenylketonuric Hyperphenylalaninemia see tetrahydrobiopterin deficiency	\|
nonsyndromic deafness	\|
Noonan syndrome	\|
Norrbottnian Gaucher disease see Gaucher disease, type 3	\|

O

Disorder	Mutation	Chromosome
Ochronosis see alkaptonuria	\|
Ochronotic arthritis see alkaptonuria	\|
OI see osteogenesis imperfecta	\|
OSMED see otospondylomegaepiphyseal dysplasia	\|
osteogenesis imperfecta	\|
Osteopsathyrosis see osteogenesis imperfecta	\|
Osteosclerosis congenita see achondroplasia	\|
Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia	\|
otospondylomegaepiphyseal dysplasia	\|
Oxalosis see hyperoxaluria, primary	\|
Oxaluria, Primary see hyperoxaluria, primary	\|

P

Disorder	Mutation	Chromosome
pantothenate kinase-associated neurodegeneration	\|
PBGD deficiency see acute intermittent porphyria	\|
PCC deficiency see propionic acidemia	\|
PCT see porphyria cutanea tarda	\|
PDM see myotonic dystrophy, type 2	\|
Pendred syndrome	\|
Periodic disease see Mediterranean fever, familial	\|
Periodic peritonitis see Mediterranean fever, familial	\|
Periorificial lentiginosis syndrome see Peutz-Jeghers syndrome	\|
Peripheral Nerve Disorders see familial dysautonomia	\|
Peripheral Neurofibromatosis see neurofibromatosis 1	\|
Peroneal Muscular Atrophy see Charcot-Marie-Tooth disease	\|
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-Zweymller syndrome	\|
Pigmentary cirrhosis see hemochromatosis	\|
PJS see Peutz-Jeghers syndrome	\|
PKAN see pantothenate kinase-associated neurodegeneration	\|
PKU see phenylketonuria	\|
PLSJ see primary lateral sclerosis, juvenile	\|
Plumboporphyria see ALAD deficiency porphyria	\|
PMA see Charcot-Marie-Tooth disease	\|
Polyposis coli see familial adenomatous polyposis	\|
Polyposis, hamartomatous intestinal see Peutz-Jeghers syndrome	\|
Polyposis, Intestinal, II see Peutz-Jeghers syndrome	\|
Polyps-and-spots syndrome see Peutz-Jeghers syndrome	\|
Porphobilinogen synthase deficiency see ALAD deficiency porphyria	\|
porphyria	\|
porphyrin disorder see porphyria	\|
PPH see primary pulmonary hypertension	\|
PPOX deficiency see variegate porphyria	\|
Prader-Labhart-Willi syndrome see Prader-Willi syndrome	\|
Prader-Willi syndrome	\|
Presenile and senile dementia see Alzheimer disease	\|
Primary Hemochromatosis see hemochromatosis	\|
primary hyperuricemia syndrome see Lesch-Nyhan syndrome	\|
primary lateral sclerosis, juvenile	\|
primary pulmonary hypertension	\|
Primary Senile Degenerative Dementia see Alzheimer disease	\|
prion disease	\|
Procollagen type EDS VII, mutant see Ehlers-Danlos syndrome, arthrochalasia type	\|
Progeria see Hutchinson-Gilford progeria syndrome	\|
Progeria-Like syndrome see Cockayne syndrome	\|
progeroid nanism see Cockayne syndrome	\|
Progressive Chorea, Chronic hereditary (Huntington) see Huntington disease	\|
Progressive Muscular Atrophy see spinal muscular atrophy	\|
Progressively deforming osteogenesis imperfecta with normal sclerae see osteogenesis imperfecta, type III	\|
PROMM see myotonic dystrophy, type 2	\|
propionic acidemia	\|
propionyl-CoA carboxylase deficiency see propionic acidemia	\|
Protein C deficiency	\|
Protein S deficiency	\|
Protoporphyria see erythropoietic protoporphyria	\|
Protoporphyrinogen oxidase deficiency see variegate porphyria	\|
Proximal myotonic dystrophy see myotonic dystrophy, type 2	\|
Proximal myotonic myopathy see myotonic dystrophy, type 2	\|
pseudo-Gaucher disease	\|
pseudo-Ullrich-Turner syndrome see Noonan syndrome	\|
pseudoxanthoma elasticum	\|
psychosine lipidosis see Krabbe disease	\|
pulmonary arterial hypertension see primary pulmonary hypertension	\|
Pulmonary Hypertension see primary pulmonary hypertension	\|
PWS see Prader-Willi syndrome	\|
PXE - Pseudoxanthoma elasticum see pseudoxanthoma elasticum	\|

R

Disorder	Mutation	Chromosome
RB see retinoblastoma	\|
Recklinghausen disease, Nerve see neurofibromatosis 1	\|
Recurrent polyserositis see Mediterranean fever, familial	\|
Retinal Disorders	\|
Retinitis pigmentosa-deafness syndrome see Usher syndrome	\|
retinoblastoma	\|
Rett syndrome	\|
RFALS type 3 see amyotrophic lateral sclerosis, type 2	\|
Ricker syndrome see myotonic dystrophy, type 2	\|
Riley-Day syndrome see familial dysautonomia	\|
Roussy-Levy syndrome see Charcot-Marie-Tooth disease	\|
RSTS see Rubinstein-Taybi syndrome	\|
RTS see Rett syndrome see Rubinstein-Taybi syndrome	\|
RTT see Rett syndrome	\|
Rubinstein-Taybi syndrome	\|

S

Disorder	Mutation	Chromosome
Sack-Barabas syndrome see Ehlers-Danlos syndrome, vascular type	\|
SADDAN	\|
Sarcoma family syndrome of Li and Fraumeni see Li-Fraumeni syndrome	\|
Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome see Li-Fraumeni syndrome	\|
SBLA syndrome see Li-Fraumeni syndrome	\|
SBMA see spinal and bulbar muscular atrophy	\|
SCD see sickle cell anemia	\|
Schwannoma, Acoustic, Bilateral see neurofibromatosis 2	\|
SCIDX1 see X-linked severe combined immunodeficiency	\|
sclerosis tuberosa see tuberous sclerosis	\|
SDAT see Alzheimer disease	\|
SED congenita see spondyloepiphyseal dysplasia congenita	\|
SED Strudwick see spondyloepimetaphyseal dysplasia, Strudwick type	\|
SEDc see spondyloepiphyseal dysplasia congenita	\|
SEMD, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type	\|
Senile Dementia see Alzheimer disease, type 2	\|
Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN	\|
sickle cell anemia	\|
Skeleton-skin-brain syndrome see SADDAN	\|
Skin Pigmentation Disorders	\|
SMA see spinal muscular atrophy	\|
SMED, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type	\|
SMED, type I see spondyloepimetaphyseal dysplasia, Strudwick type	\|
South African genetic porphyria see variegate porphyria	\|
spastic paralysis, infantile onset ascending see infantile-onset ascending hereditary spastic paralysis	\|
Speech and Communication Disorders	\|
Sphingolipidosis, Tay-Sachs see Tay-Sachs disease	\|
spinal and bulbar muscular atrophy	\|
spinal muscular atrophy	\|
spinal muscular atrophy, distal type V see distal spinal muscular atrophy, type V	\|
spinal muscular atrophy, distal, with upper limb predominance see distal spinal muscular atrophy, type V	\|
Spinocerebellar Ataxia, Friedreich see Friedreich ataxia	\|
spondyloepimetaphyseal dysplasia, Strudwick type	\|
spondyloepiphyseal dysplasia congenita	\|
Spondyloepiphyseal dysplasia see collagenopathy, types II and XI	\|
Spondylometaepiphyseal dysplasia congenita, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type	\|
Spondylometaphyseal dysplasia (SMD) see spondyloepimetaphyseal dysplasia, Strudwick type	\|
Spondylometaphyseal Dysplasia, Strudwick Type see spondyloepimetaphyseal dysplasia, Strudwick type	\|
Spongy degeneration of central nervous system see Canavan disease	\|
Spongy degeneration of the brain see Canavan disease	\|
Spongy degeneration of white matter in infancy see Canavan disease	\|
sporadic primary pulmonary hypertension see primary pulmonary hypertension	\|
SSB syndrome see SADDAN	\|
Steely Hair syndrome see Menkes syndrome	\|
Steinert disease see myotonic dystrophy	\|
Steinert myotonic dystrophy syndrome see myotonic dystrophy	\|
Stickler syndrome	\|
Stroke see CADASIL	\|
Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type	\|
Subacute Neuronopathic Gaucher disease see Gaucher disease, type 3	\|
Swedish genetic porphyria see acute intermittent porphyria	\|
Swedish porphyria see acute intermittent porphyria	\|
Swiss cheese cartilage dysplasia see Kniest dysplasia	\|

T

Disorder	Mutation	Chromosome
Tay-Sachs disease	\|
TD - Thanatophoric dwarfism see thanatophoric dysplasia	\|
TD with straight femurs and cloverleaf skull see thanatophoric dysplasia, type 2	\|
Telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia	\|
Testicular feminization syndrome see androgen insensitivity syndrome	\|
tetrahydrobiopterin deficiency	\|
TFM see androgen insensitivity syndrome	\|
thalassemia intermedia see beta thalassemia	\|
Thalassemia Major see beta thalassemia	\|
thanatophoric dysplasia	\|
Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type see factor V Leiden thrombophilia	\|
Thyroid diseases	\|
tomaculous neuropathy see hereditary neuropathy with liability to pressure palsies	\|
Total HPRT deficiency see Lesch-Nyhan syndrome	\|
Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome	\|
Transmissible Dementias see prion disease	\|
Transmissible Spongiform Encephalopathies see prion disease	\|
Trias fragilitis ossium see osteogenesis imperfecta, type I	\|
triple X syndrome	\|
Triplo X syndrome see triple X syndrome	\|
Trisomy 21 see Down syndrome	\|
Trisomy X see triple X syndrome	\|
Troisier-Hanot-Chauffard syndrome see hemochromatosis	\|
TS see Turner syndrome	\|
TSD see Tay-Sachs disease	\|
TSEs see prion disease	\|
tuberose sclerosis see tuberous sclerosis	\|
tuberous sclerosis	\|
Turner syndrome	\|
Turner syndrome in female with X chromosome see Noonan syndrome	\|
Turner's phenotype, karyotype normal see Noonan syndrome	\|
Turner's syndrome see Turner syndrome	\|
Turner-like syndrome see Noonan syndrome	\|
Type 2 Gaucher disease see Gaucher disease, type 2	\|
Type 3 Gaucher disease see Gaucher disease, type 3	\|

U

Disorder	Mutation	Chromosome
UDP-Galactose-4-Epimerase Deficiency disease see galactosemia	\|
UDPglucose 4-Epimerase Deficiency disease see galactosemia	\|
UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia	\|
Ullrich-Noonan syndrome see Noonan syndrome	\|
Ullrich-Turner syndrome see Turner syndrome	\|
Undifferentiated deafness see nonsyndromic deafness	\|
UPS deficiency see acute intermittent porphyria	\|
Urinary bladder cancer see bladder cancer	\|
UROD deficiency see porphyria cutanea tarda	\|
Uroporphyrinogen decarboxylase deficiency see porphyria cutanea tarda	\|
Uroporphyrinogen synthase deficiency see acute intermittent porphyria	\|
UROS deficiency see congenital erythropoietic porphyria	\|
Usher syndrome	\|
UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia	\|

V

Disorder	Mutation	Chromosome
Van Bogaert-Bertrand syndrome see Canavan disease	\|
Van der Hoeve syndrome see osteogenesis imperfecta, type I	\|
variegate porphyria	\|
VHL syndrome see von Hippel-Lindau disease	\|
Vision Impairment and Blindness see Alstrm syndrome	\|
Von Bogaert-Bertrand disease see Canavan disease	\|
von Hippel-Lindau disease	\|
Von Recklenhausen-Applebaum disease see hemochromatosis	\|
von Recklinghausen disease see neurofibromatosis 1	\|
VP see variegate porphyria	\|
Vrolik disease see osteogenesis imperfecta	\|

W

Disorder	Mutation	Chromosome
Waardenburg syndrome	\|
WD - Wilson's disease see Wilson disease	\|
Weissenbacher-Zweymller syndrome	\|
Wilson disease	\|
Wilson's disease see Wilson disease	\|
Wolff Periodic disease see Mediterranean fever, familial	\|
WZS see Weissenbacher-Zweymller syndrome	\|

X

Disorder	Mutation	Chromosome
X-linked mental retardation and macroorchidism see fragile X syndrome	\|
X-linked primary hyperuricemia see Lesch-Nyhan syndrome	\|
X-linked severe combined immunodeficiency	\|
X-linked sideroblastic anemia	\|
X-linked spinal and bulbar muscular atrophy see spinal and bulbar muscular atrophy	\|
X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome	\|
X-SCID see X-linked severe combined immunodeficiency	\|
XLSA see X-linked sideroblastic anemia	\|
XSCID see X-linked severe combined immunodeficiency	\|
XXX syndrome see triple X syndrome	\|
XXY syndrome see Klinefelter syndrome	\|
XXY trisomy see Klinefelter syndrome	\|
XYY Karyotype see 47,XYY syndrome	\|
XYY syndrome see 47,XYY syndrome	\|

Y

Disorder	Mutation	Chromosome
YY syndrome see 47,XYY syndrome	\|

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