· 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 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
• collagenopathy, types II and XI
• 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
• Gaucher's 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
• 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
• 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
• 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
• 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