Genetic tests and your privacy

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

ACADM deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency

ACADVL see very long-chain acyl-coenzyme A dehydrogenase deficiency

ACG1B see achondrogenesis, type 1B

ACG2 see achondrogenesis, type 2

ACH see achondroplasia

achondrogenesis, type 1B

achondrogenesis, type 2

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

acyl-CoA dehydrogenase very long chain deficiency see very long-chain acyl-coenzyme A dehydrogenase deficiency

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

5-ALA dehydratase-deficient porphyria see ALAD deficiency porphyria

ALA-D porphyria see ALAD deficiency porphyria

ALA dehydratase porphyria see ALAD deficiency porphyria

ALAD deficiency porphyria

Alagille syndrome

Alcaptonuria see alkaptonuria

Alexander disease

alkaptonuria

Alkaptonuric ochronosis see alkaptonuria

alpha-1 antitrypsin deficiency

Alpha-galactosidase A deficiency see Fabry disease

alpha-1 proteinase inhibitor see alpha-1 antitrypsin deficiency

alpha-1 related emphysema see alpha-1 antitrypsin deficiency

Alport syndrome

ALS see amyotrophic lateral sclerosis

Alström syndrome

ALX see Alexander disease

Alzheimer disease

Alzheimer's Caregivers see Alzheimer disease

Alzheimer's Disease see Alzheimer disease

Amino levulinic acid dehydratase deficiency see ALAD deficiency porphyria

Aminoacylase 2 deficiency see Canavan disease

5-aminolaevulinic dehydratase deficiency porphyria see ALAD deficiency porphyria

amyotrophic lateral sclerosis

Andersen cardiodysrhythmic periodic paralysis see Andersen-Tawil syndrome

Andersen syndrome see Andersen-Tawil syndrome

Andersen-Tawil syndrome

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 syndrome

ANH1 see X-linked sideroblastic anemia

AO2 see atelosteogenesis, type 2

APC resistance, Leiden type see factor V Leiden thrombophilia

Apert syndrome

AR-CMT2 see Charcot-Marie-Tooth disease, type 2

AR deficiency see androgen insensitivity syndrome

Arachnodactyly see Marfan syndrome

Argininosuccinate lyase deficiency see argininosuccinic aciduria

argininosuccinic aciduria

argininosuccinyl-CoA lyase deficiency see argininosuccinic aciduria

arginosuccinase deficiency see argininosuccinic aciduria

ARNSHL see nonsyndromic deafness, autosomal recessive

Arrhythmia

Arteriohepatic Dysplasia see Alagille syndrome

Arthro-ophthalmopathy, hereditary progressive see Stickler syndrome, COL2A1

Arthrochalasis multiplex congenita see Ehlers-Danlos syndrome, arthrochalasia type

AS see Angelman syndrome

ASL deficiency see argininosuccinic aciduria

Asp deficiency see Canavan disease

Aspa deficiency see Canavan disease

Aspartoacylase deficiency see Canavan disease

ataxia-telangiectasia

atelosteogenesis, type 2

ATS see Andersen-Tawil syndrome

Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome see Rett syndrome

autosomal dominant juvenile ALS see amyotrophic lateral sclerosis, type 4

Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome

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 variant GM2 gangliosidosis see Tay-Sachs disease

BANF see neurofibromatosis 2

Bartholin-Patau syndrome see Patau syndrome

BCKD deficiency see maple syrup urine disease

BDLS see Cornelia de Lange syndrome

Beare-Stevenson cutis gyrata syndrome

Benign paroxysmal peritonitis see familial Mediterranean fever

beta thalassemia

BH4 Deficiency see tetrahydrobiopterin deficiency

BHD see Birt-Hogg-Dubé syndrome

Bilateral Acoustic Neurofibromatosis see neurofibromatosis 2

Bile Duct Diseases see Alagille syndrome

Bile ducts paucity, syndromic form see Alagille syndrome

biotinidase deficiency

Birt-Hogg-Dubé syndrome

bladder cancer

Bleeding Disorders see factor V Leiden thrombophilia

Bloch-Sulzberger Syndrome see incontinentia pigmenti

Blood and Blood Disorders see glucose-6-phosphate dehydrogenase deficiency

Bone Marrow 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

Brachmann-De Lange Syndrome see Cornelia de Lange syndrome

Brain Diseases see prion disease

Branched-chain alpha-keto acid dehydrogenase deficiency see maple syrup urine disease

Branched-Chain Ketoaciduria see maple syrup urine disease

breast cancer

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 familial lipoprotein lipase deficiency

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

Cardio-auditory-syncope syndrome see Jervell and Lange-Nielsen syndrome

Cardioauditory syndrome of Jervell and Lange-Nielsen see Jervell and Lange-Nielsen syndrome

Cardiomyopathy see Noonan syndrome

Carpal Tunnel Syndrome see hereditary neuropathy with liability to pressure palsies

Cat cry syndrome see cri-du-chat syndrome

CATCH22 see 22q11.2 deletion syndrome

CAVD see congenital bilateral absence of vas deferens

Caylor cardiofacial syndrome see 22q11.2 deletion syndrome

CBAVD see congenital bilateral absence of vas deferens

CDLS see Cornelia de Lange syndrome

CEP see congenital erythropoietic porphyria

Ceramide trihexosidase deficiency see Fabry disease

Cerebelloretinal Angiomatosis, Familial see von Hippel-Lindau syndrome

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 fetalis see achondroplasia

Chondrodystrophy syndrome see achondroplasia

Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia

Chondroectodermal Dysplasia see Ellis-van Creveld syndrome

Chondrogenesis imperfecta see achondrogenesis, type 2

Choreoathetosis self-mutilation hyperuricemia syndrome see Lesch-Nyhan syndrome

Chromosomal imbalance syndrome, pair 13, trisomy see Patau syndrome

Chromosomal imbalance syndrome, pair 18, trisomy see Edwards syndrome

chromosome 13 trisomy syndrome see Patau syndrome

Classic Galactosemia see galactosemia

Classical Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, classical type

Classical Niemann-Pick Disease see Niemann-Pick disease

Classical Phenylketonuria see phenylketonuria

Cleft Lip and Palate

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

Colon cancer, familial see familial adenomatous polyposis

Colon Cancer, Familial Nonpolyposis see hereditary nonpolyposis colorectal cancer

Colorectal Cancer

Complete HPRT deficiency see Lesch-Nyhan syndrome

Complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome

Complete trisomy 18 syndrome see Edwards 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 hereditary hematuria see Alport syndrome

congenital hypomyelination see Charcot-Marie-Tooth disease, type 1; 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

Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome

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

Cornelia de Lange syndrome

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; Cowden syndrome

Curschmann-Batten-Steinert syndrome see myotonic dystrophy

cutis gyrata syndrome of Beare-Stevenson see Beare-Stevenson cutis gyrata syndrome

cystic fibrosis

D-glycerate dehydrogenase deficiency see primary hyperoxaluria

D1 Trisomy see Patau syndrome

DAF syndrome see Niemann-Pick disease

Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type

DAT - Dementia Alzheimer's type see Alzheimer disease

DBMD see muscular dystrophy, Duchenne and Becker types

De la Chapelle dysplasia see atelosteogenesis, type 2

De Lange Syndrome see Cornelia de Lange syndrome

Deafness-retinitis pigmentosa syndrome see Usher syndrome

Deafness with goiter see Pendred syndrome

Deficiency Disease, Phenylalanine Hydroxylase see phenylketonuria

Deficiency of glucose-6-phosphate dehydrogenase see glucose-6-phosphate dehydrogenase deficiency

Degenerative Nerve Diseases

Dejerine-Sottas syndrome see Charcot-Marie-Tooth disease

5p Deletion Syndrome see cri-du-chat syndrome

22q11.2 deletion syndrome

Deletion 22q11.2 syndrome see 22q11.2 deletion syndrome

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

diastrophic dysplasia

Diffuse Globoid Body Sclerosis see Krabbe disease

DiGeorge Syndrome see 22q11.2 deletion syndrome

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

DTD see diastrophic dysplasia

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

E3 Trisomy see Edwards syndrome

EDM4 see recessive multiple epiphyseal dysplasia

EDS see Ehlers-Danlos syndrome

Edwards syndrome

Ehlers-Danlos syndrome

Ekman-Lobstein disease see osteogenesis imperfecta

Ellis-van Creveld syndrome

Endocrine Diseases

entrapment neuropathy see hereditary neuropathy with liability to pressure palsies

Epiloia see tuberous sclerosis

Epiphyseal dysplasia, multiple, 4 see recessive multiple epiphyseal dysplasia

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

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 Hemochromatosis see hemochromatosis

familial lipoprotein lipase deficiency

familial Mediterranean fever

Familial nonpolyposis colon cancer see hereditary nonpolyposis colorectal cancer

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 familial Mediterranean fever

FGFR3-associated coronal synostosis see Muenke syndrome

fibrinoid degeneration of astrocytes see Alexander disease

Fibrocystic Disease of Pancreas see cystic fibrosis

Fibrofolliculomas with trichodiscomas and acrochordons see Birt-Hogg-Dubé syndrome

Fish malodor syndrome see trimethylaminuria

Fish odor syndrome see trimethylaminuria

FMF see familial Mediterranean fever

Folling Disease see phenylketonuria

fra(X) syndrome see fragile X syndrome

Fraccaro-Houston-Harris achondrogenesis see achondrogenesis, type 1B

fragile X syndrome

Fragilitas ossium see osteogenesis imperfecta

FRAXA Syndrome see fragile X syndrome

FRDA see Friedreich ataxia

Friedreich ataxia

FXG6PD Deficiency see glucose-6-phosphate dehydrogenase deficiency

G6PDD see glucose-6-phosphate dehydrogenase deficiency

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-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

glucose-6-phosphate dehydrogenase deficiency

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 primary hyperoxaluria

glycolic aciduria see primary hyperoxaluria

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

S see fragile X syndrome

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

hemorrhagic familial nephritis see Alport syndrome

hemorrhagic hereditary nephritis see Alport syndrome

HEP see hepatoerythropoietic porphyria

hepatic AGT deficiency see primary hyperoxaluria

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 nephritis see Alport syndrome

hereditary neuropathy with liability to pressure palsies

hereditary nonpolyposis colorectal cancer

Hereditary Periodic Fever Syndromes see familial Mediterranean fever

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 Spastic Paraplegia see infantile-onset ascending hereditary spastic paralysis

Hereditary spinal ataxia see Friedreich ataxia

Hereditary Spinal Sclerosis see Friedreich ataxia

Herrick's anemia see sickle cell anemia

Heterozygous OSMED see Weissenbacher-Zweymüller syndrome

Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome

HexA deficiency see Tay-Sachs disease

Hexosaminidase A deficiency see Tay-Sachs disease

Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease

HFE-associated hemochromatosis see hemochromatosis

HGPS see Hutchinson-Gilford progeria syndrome

Hippel-Lindau Disease see von Hippel-Lindau syndrome

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 primary hyperoxaluria

HP2 see primary hyperoxaluria

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

3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency see long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

21-hydroxylase deficiency

Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency see 21-hydroxylase deficiency

Hyperchylomicronemia, Familial see familial lipoprotein lipase deficiency

hyperglycinemia with ketoacidosis and leukopenia see propionic acidemia

Hyperlipoproteinemia Type I see familial lipoprotein lipase deficiency

Hyperoxaluria, Primary see primary hyperoxaluria

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

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

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

isovaleric acidemia

Isovaleryl-CoA dehydrogenase deficiency see isovaleric acidemia

IVD deficiency see isovaleric acidemia

Jackson-Weiss syndrome

Jervell and Lange-Nielsen syndrome

JH see hemochromatosis, type 2

JLNS see Jervell and Lange-Nielsen syndrome

JPLS see juvenile primary lateral sclerosis

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 primary lateral sclerosis

JWKD 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

Ketoacidemia see maple syrup urine disease

ketotic glycinemia see propionic acidemia

ketotic hyperglycinemia see propionic acidemia

Kidney Cancer see Birt-Hogg-Dubé syndrome

Kidney Diseases

Kinky Hair Syndrome see Menkes syndrome

Klinefelter syndrome

Klinefelter's Syndrome see Klinefelter syndrome

Kniest dysplasia

Krabbe disease

S see Jackson-Weiss syndrome

Lacunar Dementia see CADASIL

Langer-Saldino achondrogenesis see achondrogenesis, type 2

Langer-Saldino dysplasia see achondrogenesis, type 2

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

LCHAD deficiency see long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Learning Disorders

Lentiginosis, Perioral see Peutz-Jeghers syndrome

Lesch-Nyhan syndrome

Leukodystrophies

Leukodystrophy, spongiform see Canavan disease

leukodystrophy with Rosenthal fibers see Alexander disease

Lewy Body Disease see Parkinson disease

LFS see Li-Fraumeni syndrome

Li-Fraumeni syndrome

Lipase D deficiency see familial lipoprotein lipase deficiency

LIPD deficiency see familial lipoprotein lipase deficiency

Lipidosis, cerebroside see Gaucher disease

Lipidosis, ganglioside, infantile see Tay-Sachs disease

lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease

Lipoid histiocytosis (kerasin type) see Gaucher disease

Lipoprotein Lipase Deficiency, Familial see familial lipoprotein lipase deficiency

Liver Diseases

LNS see Lesch-Nyhan syndrome

long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Long QT Syndrome 1 see Romano-Ward syndrome

Long QT syndrome 7 see Andersen-Tawil syndrome

Lou Gehrig Disease see amyotrophic lateral sclerosis

Louis-Bar syndrome see ataxia-telangiectasia

LQT7 see Andersen-Tawil syndrome

Lynch Syndrome see hereditary nonpolyposis colorectal cancer

Lysyl-hydroxylase deficiency see Ehlers-Danlos syndrome, kyphoscoliosis type

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

maple syrup urine disease

Marfan syndrome

Marker X syndrome see fragile X syndrome

Martin-Bell Syndrome see fragile X syndrome

MCAD deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency

MCADD see medium-chain acyl-coenzyme A dehydrogenase deficiency

MCADH deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency

McAlister dysplasia see atelosteogenesis, type 2

MEA Type I see multiple endocrine neoplasia type 1

Mediterranean Anemia see beta thalassemia

Mediterranean Fever, Familial see familial Mediterranean fever

medium-chain acyl-coenzyme A dehydrogenase deficiency

Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia

MEN 1 see multiple endocrine neoplasia type 1

MEN 2 see multiple endocrine neoplasia type 2

MEN I see multiple endocrine neoplasia type 1

MEN II see multiple endocrine neoplasia type 2

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

mitochondrial trifunctional protein deficiency

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

MSUD see maple syrup urine disease

MTP deficiency see mitochondrial trifunctional protein deficiency

Mucoviscidosis see cystic fibrosis

Muenke syndrome

Multi-Infarct Dementia see CADASIL

Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency

multiple endocrine neoplasia type 1

multiple endocrine neoplasia type 2

Multiple epiphyseal dysplasia, autosomal recessive see recessive multiple epiphyseal dysplasia

Multiple hamartoma syndrome see Cowden syndrome

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

Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia

Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia

NBIA1 see pantothenate kinase-associated neurodegeneration

Neonatal osseous dysplasia 1 see atelosteogenesis, type 2

Neuroblastoma, retinal see retinoblastoma

Neurodegeneration with Brain Iron Accumulation Type 1 see pantothenate kinase-associated neurodegeneration

neurofibromatosis

Neurologic Diseases

Neuromuscular Disorders

Neuronal Cholesterol Lipidosis see Niemann-Pick disease

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

Newborn Screening

NF see neurofibromatosis

Niemann-Pick disease

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

NPD see Niemann-Pick disease

Ochronosis see alkaptonuria

Ochronotic arthritis see alkaptonuria

OI see osteogenesis imperfecta

Ophthalmoplegia, Supraoptic Vertical see Niemann-Pick disease

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 primary hyperoxaluria

Oxaluria, Primary see primary hyperoxaluria

pantothenate kinase-associated neurodegeneration

Parathyroid Disorders see multiple endocrine neoplasia type 1

Parkinson disease

Parkinson's Disease see Parkinson disease

Patau syndrome

PBGD deficiency see acute intermittent porphyria

PCC deficiency see propionic acidemia

PCT see porphyria cutanea tarda

PD - Parkinson's disease see Parkinson disease

PDM see myotonic dystrophy, type 2

Pendred syndrome

Periodic Disease see familial Mediterranean fever

Periodic paralysis, potassium-sensitive cardiodysrhythmic type see Andersen-Tawil syndrome

Periodic peritonitis see familial Mediterranean fever

Periorificial lentiginosis syndrome see Peutz-Jeghers syndrome

Peripheral Nerve Disorders see familial dysautonomia

Peripheral Neurofibromatosis see neurofibromatosis 1

Peroneal Muscular Atrophy see Charcot-Marie-Tooth disease

peroxisomal alanine:glyoxylate aminotransferase deficiency see primary hyperoxaluria

Peutz-Jeghers syndrome

Pfeiffer syndrome

Phenylalanine Hydroxylase Deficiency Disease see phenylketonuria

phenylketonuria

Pheochromocytoma see von Hippel-Lindau syndrome

Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome

Pigmentary cirrhosis see hemochromatosis

PJS see Peutz-Jeghers syndrome

PKAN see pantothenate kinase-associated neurodegeneration

PKD see polycystic kidney disease

PKU see phenylketonuria

PLSJ see juvenile primary lateral sclerosis

Plumboporphyria see ALAD deficiency porphyria

PMA see Charcot-Marie-Tooth disease

polycystic kidney 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 hyperoxaluria

primary hyperuricemia syndrome see Lesch-Nyhan syndrome

primary lateral sclerosis, juvenile see juvenile primary lateral sclerosis

Primary Parkinsonism see Parkinson disease

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

Protoporphyria see erythropoietic protoporphyria

Protoporphyrinogen oxidase deficiency see variegate porphyria

Proximal myotonic dystrophy see myotonic dystrophy, type 2

Proximal myotonic myopathy see myotonic dystrophy, type 2

pseudo-Gaucher disease

pseudo-Ullrich-Turner syndrome see Noonan syndrome

pseudoxanthoma elasticum

psychosine lipidosis see Krabbe disease

pulmonary arterial hypertension see primary pulmonary hypertension

Pulmonary Hypertension see primary pulmonary hypertension

PWS see Prader-Willi syndrome

PXE - Pseudoxanthoma elasticum see pseudoxanthoma elasticum

RB see retinoblastoma

recessive multiple epiphyseal dysplasia

Recklinghausen Disease, Nerve see neurofibromatosis 1

Recurrent polyserositis see familial Mediterranean fever

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

rMED see recessive multiple epiphyseal dysplasia

Romano-Ward syndrome

Roussy-Levy Syndrome see Charcot-Marie-Tooth disease

RSTS see Rubinstein-Taybi syndrome

RTS see Rett syndrome; Rubinstein-Taybi syndrome

RTT see Rett syndrome

Rubinstein-Taybi syndrome

RWS see Romano-Ward syndrome

Sack-Barabas syndrome see Ehlers-Danlos syndrome, vascular type

SADDAN

Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome see Li-Fraumeni syndrome

Sarcoma family syndrome of Li and Fraumeni 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

Sedlackova syndrome see 22q11.2 deletion syndrome

SEMD, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type

Senile Dementia see Alzheimer disease, type 2

Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN

Shprintzen syndrome see 22q11.2 deletion syndrome

sickle cell anemia

Skeleton-skin-brain syndrome see SADDAN

Skin Diseases see Birt-Hogg-Dubé syndrome

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

SPD see spondyloperipheral dysplasia

Speech and Communication Disorders

Sphingolipidosis, Tay-Sachs see Tay-Sachs disease

Sphingomyelin/cholesterol lipidosis see Niemann-Pick disease

Sphingomyelin lipidosis see Niemann-Pick disease

Sphingomyelinase deficiency see Niemann-Pick 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

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

spondyloperipheral dysplasia

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

Stale fish syndrome see trimethylaminuria

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

Surdo-cardiac syndrome see Jervell and Lange-Nielsen syndrome

Swedish genetic porphyria see acute intermittent porphyria

Swedish porphyria see acute intermittent porphyria

Swiss cheese cartilage dysplasia see Kniest dysplasia

5p- Syndrome see cri-du-chat syndrome

Tay-Sachs disease

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

TFP deficiency see mitochondrial trifunctional protein deficiency

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 Cancer see multiple endocrine neoplasia type 2

Thyroid Diseases

TMAU see trimethylaminuria

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

TPA deficiency see mitochondrial trifunctional protein deficiency

Transmissible Dementias see prion disease

Transmissible Spongiform Encephalopathies see prion disease

Trias fragilitis ossium see osteogenesis imperfecta, type I

trifunctional protein deficiency, type 1 see long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

trifunctional protein deficiency, type 2 see mitochondrial trifunctional protein deficiency

trimethylaminuria

triple X syndrome

Triplo X syndrome see triple X syndrome

Trisomy 16-18 see Edwards syndrome

Trisomy 21 see Down syndrome

Trisomy E syndrome see Edwards syndrome

Trisomy 13 syndrome see Patau syndrome

Trisomy 18 syndrome see Edwards 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-like syndrome see Noonan syndrome

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

Type 2 Gaucher Disease see Gaucher disease, type 2

Type 3 Gaucher Disease see Gaucher disease, type 3

UDP-Galactose-4-Epimerase Deficiency Disease see galactosemia

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

Van Bogaert-Bertrand syndrome see Canavan disease

Van der Hoeve syndrome see osteogenesis imperfecta, type I

variegate porphyria

VCFS see 22q11.2 deletion syndrome

Velo-cardio-facial syndrome see 22q11.2 deletion syndrome

Velocardiofacial syndrome see 22q11.2 deletion syndrome

very long-chain acyl-coenzyme A dehydrogenase deficiency

VHL syndrome see von Hippel-Lindau syndrome

Vision Impairment and Blindness see Alström syndrome

VLCAD-C see very long-chain acyl-coenzyme A dehydrogenase deficiency

VLCAD deficiency see very long-chain acyl-coenzyme A dehydrogenase deficiency

VLCAD-H see very long-chain acyl-coenzyme A dehydrogenase deficiency

Von Bogaert-Bertrand disease see Canavan disease

von Hippel-Lindau syndrome

Von Recklenhausen-Applebaum disease see hemochromatosis

von Recklinghausen Disease see neurofibromatosis 1

VP see variegate porphyria

Vrolik disease see osteogenesis imperfecta

Waardenburg syndrome

Ward-Romano Syndrome see Romano-Ward syndrome

WD - Wilson's disease see Wilson disease

Weissenbacher-Zweymüller syndrome

Wermer Syndrome see multiple endocrine neoplasia type 1

Wilson disease

Wilson's Disease see Wilson disease

Wolff Periodic Disease see familial Mediterranean fever

WRS see Romano-Ward syndrome

WZS see Weissenbacher-Zweymüller syndrome

45,X see Turner syndrome

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

47,XX,+21 see Down syndrome

47,XXX see triple X syndrome

XXX syndrome see triple X syndrome

47,XXY see Klinefelter syndrome

XXY syndrome see Klinefelter syndrome

XXY trisomy see Klinefelter syndrome

47,XY,+21 see Down syndrome

47,XYY syndrome

XYY Karyotype see 47,XYY syndrome

XYY syndrome see 47,XYY syndrome

YY syndrome see 47,XYY syndrome