Vezi şi
| Boli A-Z | | 2,4-Dienoyl-Coa Reductase Deficiency
2-Aminoadipic 2-Oxoadipic Aciduria
2-Hydroxyglutaric Aciduria
2-Methylbutyryl-Coa Dehydrogenase Deficiency
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
3-Hydroxyisobutyric Aciduria
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
3-Methylcrotonyl-Coa Carboxylase Deficiency
3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria, Type I
3-Methylglutaconic Aciduria, Type Iii
3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaconic Aciduria, Type Ix
3-Methylglutaconic Aciduria, Type V
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome
5-Oxoprolinase Deficiency
Abdominal Obesity-Metabolic Syndrome 1
Abdominal Obesity-Metabolic Syndrome 3
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abetalipoproteinemia
Acatalasemia
Aceruloplasminemia
Acetaminophen Metabolism
Acid Phosphatase Deficiency
Acquired Cutis Laxa
Acquired Fructose Intolerance
Acquired Metabolic Disease
Acquired Night Blindness
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Acute Liver Failure
Acute Neonatal Citrullinemia Type I
Acute Porphyria
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of
Adenine Phosphoribosyltransferase Deficiency
Adenosine Monophosphate Deaminase 1 Deficiency
Adenylosuccinase Deficiency
Adenylosuccinase Lyase Deficiency
Adrenoleukodystrophy
Adult Krabbe Disease
Adult Neuronal Ceroid Lipofuscinosis
Adult-Onset Citrullinemia Type I
Ah Amyloidosis
Aicar Transformylase/imp Cyclohydrolase Deficiency
Al Amyloidosis
Albinism
Albinism, Ocular, Type I
Albinism, Ocular, with Late-Onset Sensorineural Deafness
Albinism, Ocular, with Sensorineural Deafness
Albinism, Oculocutaneous, Type Ia
Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Ii
Albinism, Oculocutaneous, Type Iii
Albinism, Oculocutaneous, Type Iv
Albinism, Oculocutaneous, Type V
Albinism, Oculocutaneous, Type Vi
Albinism, Oculocutaneous, Type Vii
Albright's Hereditary Osteodystrophy
Alkaptonuria
Alpha-1-Antitrypsin Deficiency
Alpha-Ketoglutarate Dehydrogenase Deficiency
Alpha-Mannosidosis, Adult Form
Alpha-Mannosidosis, Infantile Form
Alpha-Methylacetoacetic Aciduria
Alpha-Methylacyl-Coa Racemase Deficiency
Amelogenesis Imperfecta Hypoplastic Type, Ig
Amino Acid Metabolic Disorder
Aminoacidopathies
Aminoacylase 1 Deficiency
Amyloidosis
Amyloidosis Aa
Amyloidosis, Familial Visceral
Amyloidosis, Finnish Type
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis, Primary Localized Cutaneous, 2
Anemia, Autoimmune Hemolytic
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia, Congenital Dyserythropoietic, Type Iii
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Hypochromic Microcytic, with Iron Overload 1
Anemia, Hypochromic Microcytic, with Iron Overload 2
Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency
Anemia, Nonspherocytic Hemolytic, Possibly Due to Defect in Porphyrin Metabolism
Anemia, Sideroblastic, 1
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Sideroblastic, 4
Anemia, Sideroblastic, and Spinocerebellar Ataxia
Aniridia - Ptosis - Intellectual Disability - Familial Obesity
Antipyrine Metabolism
Apolipoprotein C-Ii Deficiency
Apparent Mineralocorticoid Excess
Argininemia
Argininosuccinic Aciduria
Ariboflavinosis
Aromatic L-Amino Acid Decarboxylase Deficiency
Arthrogryposis, Mental Retardation, and Seizures
Arts Syndrome
Asparagine Synthetase Deficiency
Aspartylglucosaminuria
Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia
Atp6v0a2-Related Cutis Laxa
Atransferrinemia
Atypical Pantothenate Kinase-Associated Neurodegeneration
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g
Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g
Autosomal Dominant Optic Atrophy and Peripheral Neuropathy
Autosomal Dominant Optic Atrophy, Classic Form
Autosomal Dominant Optic Atrophy Plus Syndrome
Autosomal Dominant Progressive External Ophthalmoplegia
Autosomal Dominant Sideroblastic Anemia
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Sideroblastic Anemia
Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 60
Autosomal Recessive Spastic Paraplegia Type 66
Autosomal Recessive Spastic Paraplegia Type 67
Autosomal Recessive Spastic Paraplegia Type 68
Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70
Autosomal Recessive Spastic Paraplegia Type 71
Ayazi Syndrome
Barth Syndrome
Benign Adult Familial Myoclonic Epilepsy
Beriberi
Beta-Ureidopropionase Deficiency
Biemond Syndrome
Biemond Syndrome Ii
Biemond Syndrome Type 1
Bile Acid Coa Ligase Deficiency and Defective Amidation
Bile Acid Synthesis Defect, Congenital, 1
Bile Acid Synthesis Defect, Congenital, 2
Bile Acid Synthesis Defect, Congenital, 3
Bile Acid Synthesis Defect, Congenital, 4
Bile Acid Synthesis Defect, Congenital, 5
Bile Acid Synthesis Defect, Congenital, 6
Bilirubin Metabolic Disorder
Biotin Deficiency
Biotinidase Deficiency
Biotin-Thiamine-Responsive Basal Ganglia Disease
Bisphosphoglycerate Mutase Deficiency
Bjornstad Syndrome
Blue Diaper Syndrome
Body Mass Index Quantitative Trait Locus 10
Body Mass Index Quantitative Trait Locus 11
Body Mass Index Quantitative Trait Locus 12
Body Mass Index Quantitative Trait Locus 14
Body Mass Index Quantitative Trait Locus 18
Body Mass Index Quantitative Trait Locus 4
Body Mass Index Quantitative Trait Locus 7
Body Mass Index Quantitative Trait Locus 8
Body Mass Index Quantitative Trait Locus 9
Brain Dopamine-Serotonin Vesicular Transport Disease
Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency
Brunner Syndrome
Calcinosis
Calciphylaxis
Camera-Marugo-Cohen Syndrome
Canavan Disease
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to
Carbohydrate Metabolic Disorder
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to
Cardiomyopathy Hypogonadism Metabolic Anomalies
Carnitine-Acylcarnitine Translocase Deficiency
Carnitine Deficiency, Systemic Primary
Carnitine Palmitoyltransferase I Deficiency
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Carnosinemia
Carotenemia
Cataract
Cataract 10, Multiple Types
Cataract 11, Multiple Types
Cataract 12, Multiple Types
Cataract 14, Multiple Types
Cataract 15, Multiple Types
Cataract 16, Multiple Types
Cataract 17, Multiple Types
Cataract 18
Cataract 19, Multiple Types
Cataract 1, Multiple Types
Cataract 20, Multiple Types
Cataract 21, Multiple Types
Cataract 22, Multiple Types
Cataract 23, Multiple Types
Cataract 24
Cataract 25
Cataract 26, Multiple Types
Cataract 27
Cataract 28
Cataract 29
Cataract 2, Multiple Types
Cataract 30
Cataract 30, Multiple Types
Cataract 31, Multiple Types
Cataract 32, Multiple Types
Cataract 33
Cataract 33, Multiple Types
Cataract 34, Multiple Types
Cataract 35
Cataract 36
Cataract 37
Cataract 38
Cataract 39, Multiple Types
Cataract 3, Multiple Types
Cataract 40
Cataract 41
Cataract 42
Cataract 43
Cataract 44
Cataract 45
Cataract 46, Juvenile-Onset
Cataract 47
Cataract 4, Multiple Types
Cataract 5, Multiple Types
Cataract 6, Multiple Types
Cataract 7
Cataract 8, Multiple Types
Cataract 9, Multiple Types
Cataract Congenital Autosomal Dominant
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia
Cataract, Total Congenital
Cerebellar Degeneration
Cerebral Amyloid Angiopathy, Cst3-Related
Cerebral Creatine Deficiency Syndrome
Cerebral Creatine Deficiency Syndrome 1
Cerebral Creatine Deficiency Syndrome 2
Cerebral Creatine Deficiency Syndrome 3
Cerebral Folate Receptor Alpha Deficiency
Cerebrotendinous Xanthomatosis
Ceroid Lipofuscinosis, Neuronal, 1
Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 11
Ceroid Lipofuscinosis, Neuronal, 13
Ceroid Lipofuscinosis, Neuronal, 2
Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive
Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant
Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 6
Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 8
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Ceroid Lipofuscinosis, Neuronal, 9
Chanarin-Dorfman Syndrome
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease, Dominant Intermediate a
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2a2
Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q
Charcot-Marie-Tooth Disease, Type 4a
Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4b2
Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4d
Charcot-Marie-Tooth Disease, Type 4h
Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 4k
Charcot-Marie-Tooth Disease Type 5
Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Chediak-Higashi Syndrome
Cholestasis, Benign Recurrent Intrahepatic, 1
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 1
Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 3
Cholestasis, Progressive Familial Intrahepatic, 4
Cholestasis, Progressive Familial Intrahepatic, 5
Cholesterol Ester Storage Disease
Choline Deficiency Disease
Chondrodysplasia Punctata 1, X-Linked
Chondrodysplasia Punctata 1, X-Linked Recessive
Chondrodysplasia Punctata 2, X-Linked
Chondrodysplasia Punctata 2, X-Linked Dominant
Chondrodysplasia Punctata, Brachytelephalangic, Autosomal
Chops Syndrome
Choroideremia, Deafness, and Mental Retardation
Chromosome Xp21 Deletion Syndrome
Chronic Diarrhea Due to Glucoamylase Deficiency
Chronic Metabolic Polyneuropathy
Chronic Progressive External Ophthalmoplegia
Chylomicron Retention Disease
Citrullinemia, Classic
Citrullinemia, Type Ii, Adult-Onset
Citrullinemia, Type Ii, Neonatal-Onset
Ck Syndrome
Clark-Baraitser Syndrome
Classic Phenylketonuria
Clopidogrel Resistance
Coenzyme Q10 Deficiency Disease
Coenzyme Q10 Deficiency, Primary, 2
Coenzyme Q10 Deficiency, Primary, 4
Coenzyme Q10 Deficiency, Primary, 5
Coenzyme Q10 Deficiency, Primary, 6
Coenzyme Q10 Deficiency, Primary, 7
Cohen Syndrome
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Combined D-2- and L-2-Hydroxyglutaric Aciduria
Combined Malonic and Methylmalonic Aciduria
Combined Oxidative Phosphorylation Deficiency
Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 10
Combined Oxidative Phosphorylation Deficiency 11
Combined Oxidative Phosphorylation Deficiency 12
Combined Oxidative Phosphorylation Deficiency 13
Combined Oxidative Phosphorylation Deficiency 14
Combined Oxidative Phosphorylation Deficiency 15
Combined Oxidative Phosphorylation Deficiency 16
Combined Oxidative Phosphorylation Deficiency 17
Combined Oxidative Phosphorylation Deficiency 18
Combined Oxidative Phosphorylation Deficiency 19
Combined Oxidative Phosphorylation Deficiency 2
Combined Oxidative Phosphorylation Deficiency 20
Combined Oxidative Phosphorylation Deficiency 21
Combined Oxidative Phosphorylation Deficiency 23
Combined Oxidative Phosphorylation Deficiency 24
Combined Oxidative Phosphorylation Deficiency 25
Combined Oxidative Phosphorylation Deficiency 26
Combined Oxidative Phosphorylation Deficiency 27
Combined Oxidative Phosphorylation Deficiency 28
Combined Oxidative Phosphorylation Deficiency 3
Combined Oxidative Phosphorylation Deficiency 30
Combined Oxidative Phosphorylation Deficiency 31
Combined Oxidative Phosphorylation Deficiency 4
Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 6
Combined Oxidative Phosphorylation Deficiency 7
Combined Oxidative Phosphorylation Deficiency 8
Combined Oxidative Phosphorylation Deficiency 9
Combined Saposin Deficiency
Congenital Bile Acid Synthesis Defect
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Congenital Disorder of Deglycosylation
Congenital Disorder of Glycosylation, Type Ia
Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ic
Congenital Disorder of Glycosylation, Type Id
Congenital Disorder of Glycosylation, Type Ie
Congenital Disorder of Glycosylation, Type if
Congenital Disorder of Glycosylation, Type Ig
Congenital Disorder of Glycosylation, Type Ih
Congenital Disorder of Glycosylation, Type Ii
Congenital Disorder of Glycosylation, Type Iia
Congenital Disorder of Glycosylation, Type Iib
Congenital Disorder of Glycosylation, Type Iic
Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Iif
Congenital Disorder of Glycosylation, Type Iig
Congenital Disorder of Glycosylation, Type Iih
Congenital Disorder of Glycosylation, Type Iii
Congenital Disorder of Glycosylation, Type I/iix
Congenital Disorder of Glycosylation, Type Iij
Congenital Disorder of Glycosylation, Type Iik
Congenital Disorder of Glycosylation, Type Iil
Congenital Disorder of Glycosylation, Type Iim
Congenital Disorder of Glycosylation, Type Iin
Congenital Disorder of Glycosylation, Type Iio
Congenital Disorder of Glycosylation, Type Iip
Congenital Disorder of Glycosylation, Type Iiq
Congenital Disorder of Glycosylation, Type Ij
Congenital Disorder of Glycosylation, Type Ik
Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Im
Congenital Disorder of Glycosylation, Type in
Congenital Disorder of Glycosylation, Type Io
Congenital Disorder of Glycosylation, Type Ip
Congenital Disorder of Glycosylation, Type Iq
Congenital Disorder of Glycosylation, Type Ir
Congenital Disorder of Glycosylation, Type It
Congenital Disorder of Glycosylation, Type Iu
Congenital Disorder of Glycosylation, Type Iw
Congenital Disorder of Glycosylation, Type Ix
Congenital Disorder of Glycosylation, Type Iy
Congenital Dyserythropoietic Anemia
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Congenital Hemolytic Anemia
Congenital Intrinsic Factor Deficiency
Congenital Leptin Deficiency
Congenital Muscular Dystrophy with Cerebellar Involvement
Congenital Muscular Dystrophy with Intellectual Disability
Congenital Muscular Dystrophy Without Intellectual Disability
Congenital Myasthenic Syndromes with Glycosylation Defect
Congenital Sialidosis Type 2
Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance
Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance
Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance
Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance
Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance
Copper Deficiency, Familial Benign
Coproporphyria, Hereditary
Coumarin Resistance
Crigler-Najjar Syndrome, Type I
Crigler-Najjar Syndrome, Type Ii
Cutaneous Porphyria
Cutis Laxa
Cutis Laxa, Autosomal Dominant 1
Cutis Laxa, Autosomal Dominant 2
Cutis Laxa, Autosomal Dominant 3
Cutis Laxa, Autosomal Recessive Type 1
Cutis Laxa, Autosomal Recessive, Type Ia
Cutis Laxa, Autosomal Recessive, Type Ib
Cutis Laxa, Autosomal Recessive, Type Ic
Cutis Laxa, Autosomal Recessive, Type Iia
Cutis Laxa, Autosomal Recessive, Type Iib
Cutis Laxa, Autosomal Recessive, Type Iic
Cutis Laxa, Autosomal Recessive, Type Iid
Cutis Laxa, Autosomal Recessive, Type Iiia
Cutis Laxa, Autosomal Recessive, Type Iiib
Cystathioninuria
Cystic Fibrosis
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation
Cystinosis
Cystinosis, Adult Nonnephropathic
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type
Cystinosis, Nephropathic
Cystinuria
D-2-Hydroxyglutaric Aciduria 1
D-2-Hydroxyglutaric Aciduria 2
Danon Disease
D-Bifunctional Protein Deficiency
Deafness, Aminoglycoside-Induced
Deafness, Dystonia, and Cerebral Hypomyelination
De Barsy Syndrome
Desmosterolosis
D-Glyceric Aciduria
Diabetes and Deafness, Maternally Inherited
Diabetes Mellitus
Diabetes Mellitus, 6q24-Related Transient Neonatal
Diabetes Mellitus, Congenital Autoimmune
Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent, 10
Diabetes Mellitus, Insulin-Dependent, 11
Diabetes Mellitus, Insulin-Dependent, 12
Diabetes Mellitus, Insulin-Dependent, 13
Diabetes Mellitus, Insulin-Dependent, 15
Diabetes Mellitus, Insulin-Dependent, 17
Diabetes Mellitus, Insulin-Dependent, 18
Diabetes Mellitus, Insulin-Dependent, 19
Diabetes Mellitus, Insulin-Dependent, 2
Diabetes Mellitus, Insulin-Dependent, 20
Diabetes Mellitus, Insulin-Dependent, 21
Diabetes Mellitus, Insulin-Dependent, 22
Diabetes Mellitus, Insulin-Dependent, 23
Diabetes Mellitus, Insulin-Dependent, 24
Diabetes Mellitus, Insulin-Dependent, 3
Diabetes Mellitus, Insulin-Dependent, 4
Diabetes Mellitus, Insulin-Dependent, 5
Diabetes Mellitus, Insulin-Dependent, 6
Diabetes Mellitus, Insulin-Dependent, 7
Diabetes Mellitus, Insulin-Dependent, 8
Diabetes Mellitus, Ketosis-Prone
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
Diabetes Mellitus, Noninsulin-Dependent
Diabetes Mellitus, Noninsulin-Dependent, 1
Diabetes Mellitus, Noninsulin-Dependent, 2
Diabetes Mellitus, Noninsulin-Dependent, 3
Diabetes Mellitus, Noninsulin-Dependent, 4
Diabetes Mellitus, Noninsulin-Dependent, 5
Diabetes Mellitus, Permanent Neonatal
Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 2
Diabetes Mellitus, Transient Neonatal, 3
Diabetic Peripheral Angiopathy
Diamond-Blackfan Anemia
Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 11
Diamond-Blackfan Anemia 12
Diamond-Blackfan Anemia 13
Diamond-Blackfan Anemia 16
Diamond-Blackfan Anemia 17
Diamond-Blackfan Anemia 2
Diamond-Blackfan Anemia 3
Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 5
Diamond-Blackfan Anemia 6
Diamond-Blackfan Anemia 7
Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 9
Diarrhea, Chronic, with Villous Atrophy
Dibasic Amino Aciduria I
Dicarboxylic Aminoaciduria
Diffuse Idiopathic Skeletal Hyperostosis
Dihydrolipoamide Dehydrogenase Deficiency
Dihydropyrimidinase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency
Dimethylglycine Dehydrogenase Deficiency
Diploid-Triploid Mosaicism
Disorders of Intracellular Cobalamin Metabolism
Dopamine Beta-Hydroxylase Deficiency, Congenital
Dowling-Degos Disease
Dowling-Degos Disease 1
Dowling-Degos Disease 2
Dowling-Degos Disease 3
Dowling-Degos Disease 4
Drug Metabolism, Poor, Cyp2c19-Related
Drug Metabolism, Poor, Cyp2d6-Related
Dubin-Johnson Syndrome
Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency
Early Myoclonic Encephalopathy
Early-Onset Parkinson Disease
Efavirenz, Poor Metabolism of
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Encephalopathy
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2
Encephalopathy, Ethylmalonic
Endemic Goiter
Epilepsy, Familial Adult Myoclonic, 1
Epilepsy, Familial Adult Myoclonic, 2
Epilepsy, Familial Adult Myoclonic, 3
Epilepsy, Familial Adult Myoclonic, 4
Epilepsy, Familial Adult Myoclonic, 5
Epilepsy, Juvenile Myoclonic 9
Epilepsy, Myoclonic Juvenile
Epilepsy, Progressive Myoclonic, 10
Epilepsy, Progressive Myoclonic, 1b
Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions
Epilepsy, Progressive Myoclonic, 6
Epilepsy, Progressive Myoclonic 7
Epilepsy, Progressive Myoclonic, 8
Epilepsy, Progressive Myoclonic, 9
Epilepsy Progressive Myoclonic Type 3
Epilepsy, Pyridoxine-Dependent
Epileptic Encephalopathy, Early Infantile, 1
Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12
Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14
Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16
Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18
Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 2
Epileptic Encephalopathy, Early Infantile, 21
Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24
Epileptic Encephalopathy, Early Infantile, 25
Epileptic Encephalopathy, Early Infantile, 26
Epileptic Encephalopathy, Early Infantile, 27
Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 29
Epileptic Encephalopathy, Early Infantile, 3
Epileptic Encephalopathy, Early Infantile, 30
Epileptic Encephalopathy, Early Infantile, 31
Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 33
Epileptic Encephalopathy, Early Infantile, 34
Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 37
Epileptic Encephalopathy, Early Infantile, 38
Epileptic Encephalopathy, Early Infantile, 39
Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 40
Epileptic Encephalopathy, Early Infantile, 41
Epileptic Encephalopathy, Early Infantile, 42
Epileptic Encephalopathy, Early Infantile, 43
Epileptic Encephalopathy, Early Infantile, 44
Epileptic Encephalopathy, Early Infantile, 45
Epileptic Encephalopathy, Early Infantile, 46
Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 48
Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 50
Epileptic Encephalopathy, Early Infantile, 51
Epileptic Encephalopathy, Early Infantile, 52
Epileptic Encephalopathy, Early Infantile, 53
Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 55
Epileptic Encephalopathy, Early Infantile, 56
Epileptic Encephalopathy, Early Infantile, 57
Epileptic Encephalopathy, Early Infantile, 58
Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 7
Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 9
Erythrocyte Galactose Epimerase Deficiency
Erythrocyte Lactate Transporter Defect
Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige
Erythropoietic Uroporphyria Associated with Myeloid Malignancy
Essential Pentosuria
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
Exostoses, Multiple, Type I
Exostoses, Multiple, Type Ii
Exostoses, Multiple, Type Iii
Fabry Disease
Familial Amyloidosis, Finnish Type
Familial Hyperlipidemia
Familial Hypocalciuric Hypercalcemia
Familial Lipoprotein Lipase Deficiency
Familial Partial Lipodystrophy
Familial Partial Lipodystrophy Due to Akt2 Mutations
Familial Periodic Paralysis
Familial Porphyria Cutanea Tarda
Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia
Fanconi-Bickel Syndrome
Farber Lipogranulomatosis
Fastkd2-Related Infantile Mitochondrial Encephalomyopathy
Fatal Infantile Cytochrome C Oxidase Deficiency
Fatal Infantile Encephalocardiomyopathy
Fatal Infantile Hypertrophic Cardiomyopathy Due to Mitochondrial Complex I Deficiency
Fatty Liver Disease
Fish-Eye Disease
Folate Malabsorption, Hereditary
Folic Acid Deficiency Anemia
Folinic Acid-Responsive Seizures
Free Sialic Acid Storage Disorders
Fructose-1,6-Bisphosphatase Deficiency
Fructose Intolerance, Hereditary
Fructosuria, Essential
Fucosidosis
Fucosidosis Type 1
Fumarase Deficiency
Gaba Aminotransferase Deficiency
Gaba-Transaminase Deficiency
Galactokinase Deficiency
Galactose Epimerase Deficiency
Galactosemia
Galactosialidosis
Gamma-Amino Butyric Acid Metabolism Disorder
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to
Gangliosidosis Gm1
Gangliosidosis Gm2
Gaucher's Disease
Gaucher Disease, Atypical, Due to Saposin C Deficiency
Gaucher Disease, Perinatal Lethal
Gaucher Disease, Type I
Gaucher Disease, Type Ii
Gaucher Disease, Type Iii
Gaucher Disease, Type Iiic
Generalized Galactose Epimerase Deficiency
Genetic Recurrent Myoglobinuria
Gestational Diabetes
Gilbert Syndrome
Glucose/galactose Malabsorption
Glucose Intolerance
Glucose Metabolism Disease
Glucosephosphate Dehydrogenase Deficiency
Glut1 Deficiency Syndrome 1
Glutamate Formiminotransferase Deficiency
Glutamine Deficiency, Congenital
Glutaric Acidemia I
Glutaric Acidemia Type Iii
Glutaric Aciduria Iii
Glutathione Synthetase Deficiency
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to
Glutathionuria
Glycerol Kinase Deficiency
Glycine Encephalopathy
Glycine Encephalopathy with Normal Serum Glycine
Glycine N-Methyltransferase Deficiency
Glycogen Storage Disease
Glycogen Storage Disease 0, Liver
Glycogen Storage Disease 0, Muscle
Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset
Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency
Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency
Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency
Glycogen Storage Disease Ia
Glycogen Storage Disease Ib
Glycogen Storage Disease Ic
Glycogen Storage Disease Ii
Glycogen Storage Disease Iii
Glycogen Storage Disease Iv
Glycogen Storage Disease Ix
Glycogen Storage Disease Ixa
Glycogen Storage Disease Ixb
Glycogen Storage Disease Ixc
Glycogen Storage Disease of Heart, Lethal Congenital
Glycogen Storage Disease Type 0
Glycogen Storage Disease, Type Ixd
Glycogen Storage Disease V
Glycogen Storage Disease Vi
Glycogen Storage Disease Vii
Glycogen Storage Disease Viii
Glycogen Storage Disease X
Glycogen Storage Disease Xii
Glycogen Storage Disease Xiii
Glycogen Storage Disease Xv
Glycoproteinosis
Glycosylphosphatidylinositol Deficiency
Gm1-Gangliosidosis, Type I
Gm1-Gangliosidosis, Type Ii
Gm1-Gangliosidosis, Type Iii
Gm2 Gangliosidosis, 0 Variant
Gm2-Gangliosidosis, Ab Variant
Gm2-Gangliosidosis, B, B1, Ab Variant
Gracile Syndrome
Greenberg Dysplasia
Gyrate Atrophy of Choroid and Retina
Haim-Munk Syndrome
Hartnup Disorder
Hawkinsinuria
Hemochromatosis, Neonatal
Hemochromatosis, Type 1
Hemochromatosis Type 2
Hemochromatosis, Type 2a
Hemochromatosis, Type 2b
Hemochromatosis, Type 3
Hemochromatosis, Type 4
Hemochromatosis, Type 5
Hemolytic Anemia
Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction
Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency
Hemosiderosis
Hepatic Lipase Deficiency
Hereditary Amyloidosis
Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors
Hereditary Hypercarotenemia and Vitamin a Deficiency
Hereditary Hyperuricemia
Hereditary Late-Onset Parkinson Disease
Hereditary Multiple Exostoses
Hereditary Night Blindness
Hereditary Sensory Neuropathy
Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72
Hereditary Xanthinuria
Hermansky-Pudlak Syndrome
Hermansky-Pudlak Syndrome 1
Hermansky-Pudlak Syndrome 10
Hermansky-Pudlak Syndrome 2
Hermansky-Pudlak Syndrome 3
Hermansky-Pudlak Syndrome 4
Hermansky-Pudlak Syndrome 5
Hermansky-Pudlak Syndrome 6
Hermansky-Pudlak Syndrome 7
Hermansky-Pudlak Syndrome 8
Hermansky-Pudlak Syndrome 9
Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis
Hermansky-Pudlak Syndrome with Pulmonary Fibrosis
Histidine Metabolism Disease
Histidinemia
Holocarboxylase Synthetase Deficiency
Homocarnosinosis
Homocysteinemia
Homocystinuria
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency
Homocystinuria Due to Defect in Methylation Cbl E
Homocystinuria Due to Defect in Methylation Cbl G
Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria Without Methylmalonic Aciduria
Homozygous Familial Hypercholesterolemia
Hsd10 Mitochondrial Disease
Hurler-Scheie Syndrome
Hurler Syndrome
Hyaluronan Metabolism, Defect in
Hydrocephalus Obesity Hypogonadism
Hydroxykynureninuria
Hydroxylysinuria
Hyperalphalipoproteinemia 1
Hyper-Beta-Alaninemia
Hyperbilirubinemia, Rotor Type
Hypercholanemia, Familial
Hypercholesterolemia, Autosomal Dominant, 3
Hypercholesterolemia, Autosomal Dominant, Type B
Hypercholesterolemia, Autosomal Recessive
Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency
Hypercholesterolemia, Familial
Hyperekplexia
Hyperekplexia 1
Hyperekplexia 2
Hyperekplexia 3
Hyperekplexia, Hereditary 1
Hyperglycemia
Hyperglycinemia, Lactic Acidosis, and Seizures
Hyper-Igd Syndrome
Hyperinsulinemic Hypoglycemia
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 5
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinism
Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperkalemic Periodic Paralysis
Hyperlipidemia, Combined, 1
Hyperlipidemia, Combined, 2
Hyperlipidemia, Familial Combined
Hyperlipidemia Type 3
Hyperlipoproteinemia, Type I
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Type Iii
Hyperlipoproteinemia, Type Iv
Hyperlipoproteinemia, Type V
Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria
Hyperlysinemia, Type I
Hypermanganesemia with Dystonia
Hypermanganesemia with Dystonia 1
Hypermanganesemia with Dystonia 2
Hypermethioninemia
Hypermethioninemia Due to Adenosine Kinase Deficiency
Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperostosis Frontalis Interna
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Primary, Type Iii
Hyperphenylalaninemia, Bh4-Deficient, a
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperphenylalaninemia, Bh4-Deficient, C
Hyperphenylalaninemia, Bh4-Deficient, D
Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency
Hyperphosphatasia-Intellectual Disability Syndrome
Hyperphosphatemia
Hyperprolactinemia
Hyperprolinemia
Hyperprolinemia, Type I
Hyperprolinemia, Type Ii
Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation
Hypertryptophanemia
Hyperuricemia
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome
Hyperuricemic Nephropathy, Familial Juvenile, 1
Hyperuricemic Nephropathy, Familial Juvenile, 2
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemic Nephropathy, Familial Juvenile, 4
Hypervitaminosis a
Hypervitaminosis D
Hypoalphalipoproteinemia, Primary
Hypoascorbemia
Hypobetalipoproteinemia, Familial, 1
Hypobetalipoproteinemia, Familial, 2
Hypocalcemia, Autosomal Dominant 1
Hypocalcemia, Autosomal Dominant 2
Hypocalciuric Hypercalcemia, Familial, Type I
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypochromic Microcytic Anemia with Iron Overload
Hypoglycemia
Hypokalemia
Hypokalemic Periodic Paralysis, Type 1
Hypokalemic Periodic Paralysis, Type 2
Hypolipoproteinemia
Hypomagnesemia 1, Intestinal
Hypomagnesemia 2, Renal
Hypomagnesemia 3, Renal
Hypomagnesemia 4, Renal
Hypomagnesemia 5, Renal, with Ocular Involvement
Hypomagnesemia 6, Renal
Hypophosphatemia
Hypoplastic Amelogenesis Imperfecta
Hypotonia-Cystinuria Syndrome
Ichthyosis, Spastic Quadriplegia, and Mental Retardation
Idiopathic Malabsorption Due to Bile Acid Synthesis Defects
Iminoglycinuria
Immunodeficiency 23
Inborn Amino Acid Metabolism Disorder
Inclusion-Cell Disease
Infantile Cerebellar-Retinal Degeneration
Infantile Epileptic Encephalopathy
Infantile Glycine Encephalopathy
Infantile Krabbe Disease
Infantile Liver Failure Syndrome 1
Infantile Liver Failure Syndrome 2
Infantile Sialic Acid Storage Disease
Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Inherited Metabolic Disorder
Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Intermediate Maple Syrup Urine Disease
Intermediate Severe Salla Disease
Intestinal Disaccharidase Deficiency
Intrahepatic Cholestasis
Intrinsic Factor Deficiency
Iron Deficiency Anemia
Iron Metabolism Disease
Iron Overload in Africa
Iron-Refractory Iron Deficiency Anemia
Isobutyryl-Coa Dehydrogenase Deficiency
Isolated Atp Synthase Deficiency
Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type
Isolated Complex Iii Deficiency
Isovaleric Acidemia
Juvenile Hereditary Hemochromatosis
Juvenile-Onset Parkinson Disease
Juvenile Sialidosis Type 2
Kanzaki Disease
Kearns-Sayre Syndrome
Kelley-Seegmiller Syndrome
Keratomalacia
Kernicterus
Kernicterus Due to Isoimmunization
Keshan Disease
Krabbe Disease
Kwashiorkor
L-2-Hydroxyglutaric Aciduria
Lactase Deficiency, Congenital
Lactate Dehydrogenase B Deficiency
Lactic Acidosis
Lactic Acidosis, Chronic Adult Form
Lactic Acidosis Congenital Infantile
Lactose Intolerance
Lactose Intolerance, Adult Type
Late-Infantile/juvenile Krabbe Disease
Lathosterolosis
Leber Hereditary Optic Neuropathy
Lecithin:cholesterol Acyltransferase Deficiency
Leigh Syndrome
Leigh Syndrome, French Canadian Type
Leigh Syndrome with Leukodystrophy
Leigh Syndrome with Nephrotic Syndrome
Leptin Deficiency or Dysfunction
Leptin Receptor Deficiency
Lesch-Nyhan Syndrome
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Dystonia and Motor Neuropathy
Leukotriene C4 Synthase Deficiency
Limb-Girdle Muscular Dystrophy
Limb-Girdle Muscular Dystrophy, Type 1g
Lipid Metabolism Disorder
Lipid Storage Disease
Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency
Lipodystrophy Due to Peptidic Growth Factors Deficiency
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Partial, Acquired
Lipoid Congenital Adrenal Hyperplasia
Lipoid Proteinosis of Urbach and Wiethe
Lipomatosis
Lipomatosis, Multiple
Lipoprotein Glomerulopathy
Lipoyltransferase 1 Deficiency
Liver Disease
Liver Failure, Infantile, Transient
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Lowe Oculocerebrorenal Syndrome
Lysinuric Protein Intolerance
Lysosomal Acid Lipase Deficiency
Lysosomal Storage Disease
Macroglobulinemia
Malonyl-Coa Decarboxylase Deficiency
Man1b1-Cdg
Mannosidosis
Mannosidosis, Alpha B, Lysosomal
Mannosidosis, Beta a, Lysosomal
Maple Syrup Urine Disease
Marasmus
Maternally-Inherited Mitochondrial Dystonia
Maternally-Inherited Progressive External Ophthalmoplegia
Megaloblastic Anemia
Megaloblastic Anemia 1
Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency
Mehmo Syndrome
Mend Syndrome
Menkes Disease
Mental Retardation, Autosomal Dominant 10
Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Dominant 13
Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Dominant 19
Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Dominant 22
Mental Retardation, Autosomal Dominant 23
Mental Retardation, Autosomal Dominant 24
Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 27
Mental Retardation, Autosomal Dominant 29
Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Dominant 32
Mental Retardation, Autosomal Dominant 33
Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38
Mental Retardation, Autosomal Dominant 39
Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Dominant 41
Mental Retardation, Autosomal Dominant 42
Mental Retardation, Autosomal Dominant 43
Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Dominant 46
Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 48
Mental Retardation, Autosomal Dominant 49
Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51
Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53
Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56
Mental Retardation, Autosomal Dominant 7
Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 2
Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 35
Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37
Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40
Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Recessive 46
Mental Retardation, Autosomal Recessive 47
Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49
Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Recessive 51
Mental Retardation, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Recessive 55
Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 60
Mental Retardation, Autosomal Recessive 61
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma
Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies
Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome
Mercaptolactate-Cysteine Disulfiduria
Metabolic Acidosis
Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration
Metachromatic Leukodystrophy
Metachromatic Leukodystrophy, Adult Form
Metachromatic Leukodystrophy, Juvenile Form
Metachromatic Leukodystrophy, Late Infantile Form
Metal Metabolism Disorder
Methionine Adenosyltransferase I/iii Deficiency
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic Acidemia and Homocysteinemia, Cblx Type
Methylmalonic Acidemia Cb1a Type
Methylmalonic Acidemia Cb1b Type
Methylmalonic Acidemia Due to Transcobalamin Receptor Defect
Methylmalonic Acidemia with Homocystinuria
Methylmalonic Aciduria and Homocystinuria, Cblc Type
Methylmalonic Aciduria and Homocystinuria, Cbld Type
Methylmalonic Aciduria and Homocystinuria, Cblf Type
Methylmalonic Aciduria and Homocystinuria, Cblj Type
Methylmalonic Aciduria and Homocystinuria Type Cble
Methylmalonic Aciduria and Homocystinuria Type Cblg
Methylmalonic Aciduria, Cbla Type
Methylmalonic Aciduria, Cblb Type
Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency
Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect
Methylmalonyl-Coa Epimerase Deficiency
Mevalonic Aciduria
Microcephaly, Amish Type
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis
Microcephaly, Short Stature, and Impaired Glucose Metabolism 1
Microcephaly, Short Stature, and Impaired Glucose Metabolism 2
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Mild Canavan Disease
Mild Hyperphenylalaninemia
Mild Phenylketonuria
Mineral Metabolism Disease
Minimal Pigment Oculocutaneous Albinism Type 1
Mitochondrial Complex I Deficiency
Mitochondrial Complex I Deficiency Due to Acad9 Deficiency
Mitochondrial Complex Ii Deficiency
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Mitochondrial Complex Iv Deficiency
Mitochondrial Complex V Deficiency, Nuclear Type 1
Mitochondrial Complex V Deficiency, Nuclear Type 2
Mitochondrial Complex V Deficiency, Nuclear Type 3
Mitochondrial Complex V Deficiency, Nuclear Type 4
Mitochondrial Dna Depletion Syndrome 1
Mitochondrial Dna Depletion Syndrome 11
Mitochondrial Dna Depletion Syndrome 12
Mitochondrial Dna Depletion Syndrome 13
Mitochondrial Dna Depletion Syndrome 2
Mitochondrial Dna Depletion Syndrome 3
Mitochondrial Dna Depletion Syndrome 4a
Mitochondrial Dna Depletion Syndrome 4b
Mitochondrial Dna Depletion Syndrome 5
Mitochondrial Dna Depletion Syndrome 6
Mitochondrial Dna Depletion Syndrome 7
Mitochondrial Dna Depletion Syndrome 8a
Mitochondrial Dna Depletion Syndrome 9
Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
Mitochondrial Metabolism Disease
Mitochondrial Myopathy
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes
Mitochondrial Myopathy, Infantile, Transient
Mitochondrial Myopathy, Lethal, Infantile
Mitochondrial Myopathy with Diabetes
Mitochondrial Myopathy with Lactic Acidosis
Mitochondrial Neurogastrointestinal Encephalomyopathy
Mitochondrial Non-Syndromic Sensorineural Deafness
Mitochondrial Phosphate Carrier Deficiency
Mitochondrial Pyruvate Carrier Deficiency
Mitochondrial Trifunctional Protein Deficiency
Mohr-Tranebjaerg Syndrome
Molybdenum Cofactor Deficiency, Complementation Group a
Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum Cofactor Deficiency, Complementation Group C
Momo Syndrome
Monocarboxylate Transporter 1 Deficiency
Monoclonal Paraproteinemia
Morbid Obesity
Morbid Obesity and Spermatogenic Failure
Mucolipidosis Ii Alpha/beta
Mucolipidosis Iii Alpha/beta
Mucolipidosis Iii Gamma
Mucolipidosis Iv
Mucopolysaccharidosis Iii
Mucopolysaccharidosis Iv
Mucopolysaccharidosis-Plus Syndrome
Mucopolysaccharidosis Type 2, Attenuated Form
Mucopolysaccharidosis Type 2, Severe Form
Mucopolysaccharidosis Type 6, Rapidly Progressing
Mucopolysaccharidosis Type 6, Slowly Progressing
Mucopolysaccharidosis, Type Ii
Mucopolysaccharidosis, Type Iiia
Mucopolysaccharidosis, Type Iiib
Mucopolysaccharidosis, Type Iiic
Mucopolysaccharidosis, Type Iiid
Mucopolysaccharidosis, Type Iva
Mucopolysaccharidosis, Type Ivb
Mucopolysaccharidosis, Type Ix
Mucopolysaccharidosis Type Vi
Mucopolysaccharidosis, Type Vii
Multiple Acyl-Coa Dehydrogenase Deficiency
Multiple Carboxylase Deficiency
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects
Multiple Mitochondrial Dysfunctions Syndrome
Multiple Mitochondrial Dysfunctions Syndrome 1
Multiple Mitochondrial Dysfunctions Syndrome 2
Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia
Multiple Mitochondrial Dysfunctions Syndrome 3
Multiple Mitochondrial Dysfunctions Syndrome 4
Multiple Mitochondrial Dysfunctions Syndrome 5
Multiple Sulfatase Deficiency
Muscle Eye Brain Disease
Muscular Dystrophy, Congenital, Megaconial Type
Muscular Dystrophy-Dystroglycanopathy
Muscular Dystrophy-Dystroglycanopathy , Type a, 1
Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 11
Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 8
Muscular Dystrophy-Dystroglycanopathy , Type a, 9
Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1
Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy, Limb-Girdle, Type 1a
Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 1e
Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2a
Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c
Muscular Dystrophy, Limb-Girdle, Type 2d
Muscular Dystrophy, Limb-Girdle, Type 2f
Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2j
Muscular Dystrophy, Limb-Girdle, Type 2l
Muscular Dystrophy, Limb-Girdle, Type 2q
Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2x
Muscular Dystrophy, Limb-Girdle, Type 2z
Musculocontractural Ehlers-Danlos Syndrome
Myo5b-Related Progressive Familial Intrahepatic Cholestasis
Myoclonic Epilepsy Associated with Ragged-Red Fibers
Myoclonic Epilepsy, Familial Infantile
Myoclonic Epilepsy, Juvenile 3
Myoclonic Epilepsy, Juvenile 4
Myoclonic Epilepsy of Infancy
Myoglobinuria
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Autosomal Dominant
Myoglobinuria Dominant Form
Myoglobinuria, Recurrent
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Myopathy, Lactic Acidosis, and Sideroblastic Anemia
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3
Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay
Myopathy with Lactic Acidosis, Hereditary
N-Acetylglutamate Synthase Deficiency
Neonatal Adrenoleukodystrophy
Neonatal Diabetes Mellitus
Neonatal Glycine Encephalopathy
Nephrocalcinosis
Neu-Laxova Syndrome 1
Neu-Laxova Syndrome 2
Neuraminidase Deficiency
Neurodegeneration Due to Cerebral Folate Transport Deficiency
Neurodegeneration with Brain Iron Accumulation
Neurodegeneration with Brain Iron Accumulation 1
Neurodegeneration with Brain Iron Accumulation 2a
Neurodegeneration with Brain Iron Accumulation 2b
Neurodegeneration with Brain Iron Accumulation 3
Neurodegeneration with Brain Iron Accumulation 4
Neurodegeneration with Brain Iron Accumulation 5
Neurodegeneration with Brain Iron Accumulation 6
Neuronal Ceroid Lipofuscinosis
Neuropathy, Ataxia, and Retinitis Pigmentosa
Neuropathy, Hereditary Sensory, Type Id
Neuropathy, Hereditary Sensory, Type Ie
Neuropathy, Hereditary Sensory, Type if
Neuropathy, Hereditary Sensory, Type Iic
Neutral Lipid Storage Disease with Myopathy
Niemann-Pick Disease
Niemann-Pick Disease, Type a
Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C2
Niemann-Pick Disease Type C, Adult Neurologic Onset
Niemann-Pick Disease Type C, Juvenile Neurologic Onset
Niemann-Pick Disease Type C, Late Infantile Neurologic Onset
Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset
Niemann-Pick Disease Type C, Severe Perinatal Form
Night Blindness
Nonaka Myopathy
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy
Nutritional Deficiency Disease
Nutritional Optic Neuropathy
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity Due to Congenital Leptin Deficiency
Obesity Due to Sim1 Deficiency
Obesity, Hyperphagia, and Developmental Delay
Obesity-Hypoventilation Syndrome
Occipital Horn Syndrome
Ocular Albinism
Oculocutaneous Albinism
Optic Atrophy 1
Optic Atrophy 11
Optic Atrophy 2
Optic Atrophy 3, Autosomal Dominant
Optic Atrophy 4
Optic Atrophy 5
Optic Atrophy 6
Optic Atrophy 7 with or Without Auditory Neuropathy
Optic Atrophy 8
Optic Atrophy 9
Organic Acidemia
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to
Orotic Aciduria
Ovarian Dysgenesis, Hypergonadotropic, with Short Stature and Recurrent Metabolic Acidosis
Overnutrition
Pancreatic Lipase Deficiency
Papillon-Lefevre Syndrome
Paramyloidosis
Parkinson Disease 10
Parkinson Disease 11, Autosomal Dominant
Parkinson Disease 12
Parkinson Disease 13, Autosomal Dominant
Parkinson Disease 14, Autosomal Recessive
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinson Disease 16
Parkinson Disease 17
Parkinson Disease 18, Autosomal Dominant
Parkinson Disease 19a, Juvenile-Onset
Parkinson Disease 1, Autosomal Dominant
Parkinson Disease 20, Early-Onset
Parkinson Disease 21
Parkinson Disease 22, Autosomal Dominant
Parkinson Disease 23, Autosomal Recessive Early-Onset
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinson Disease 3, Autosomal Dominant
Parkinson Disease 4, Autosomal Dominant
Parkinson Disease 5, Autosomal Dominant
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinson Disease 8, Autosomal Dominant
Parkinson Disease, Late-Onset
Parkinson Disease Type 9
Paroxysmal Nocturnal Hemoglobinuria
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal Nocturnal Hemoglobinuria 2
Pearson Marrow-Pancreas Syndrome
Pellagra
Pellagra-Like Syndrome
Pentosuria
Pepck 1 Deficiency
Periodic Paralysis with Later-Onset Distal Motor Neuropathy
Pernicious Anemia
Peroxisomal Acyl-Coa Oxidase Deficiency
Peroxisomal Disease
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Peroxisome Biogenesis Disorder 10a
Peroxisome Biogenesis Disorder 10b
Peroxisome Biogenesis Disorder 11a
Peroxisome Biogenesis Disorder 11b
Peroxisome Biogenesis Disorder 12a
Peroxisome Biogenesis Disorder 13a
Peroxisome Biogenesis Disorder 14b
Peroxisome Biogenesis Disorder 1a
Peroxisome Biogenesis Disorder 1b
Peroxisome Biogenesis Disorder 2a
Peroxisome Biogenesis Disorder 2b
Peroxisome Biogenesis Disorder 3a
Peroxisome Biogenesis Disorder 3b
Peroxisome Biogenesis Disorder 4a
Peroxisome Biogenesis Disorder 4b
Peroxisome Biogenesis Disorder 5a
Peroxisome Biogenesis Disorder 5b
Peroxisome Biogenesis Disorder 6a
Peroxisome Biogenesis Disorder 6b
Peroxisome Biogenesis Disorder 7a
Peroxisome Biogenesis Disorder 7b
Peroxisome Biogenesis Disorder 8a
Peroxisome Biogenesis Disorder 8b
Peroxisome Biogenesis Disorder 9b
Perrault Syndrome
Perrault Syndrome 1
Perrault Syndrome 2
Perrault Syndrome 3
Perrault Syndrome 4
Perrault Syndrome 5
Perrault Syndrome 6
Peters-Plus Syndrome
Phenylketonuria
Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Kinase 1 Deficiency
Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphorus Metabolism Disease
Phosphoserine Aminotransferase Deficiency
Phosphoserine Phosphatase Deficiency
Plasma Protein Metabolism Disease
Polyclonal Hypergammaglobulinemia
Polyglucosan Body Myopathy 1 with or Without Immunodeficiency
Polyglucosan Body Myopathy 2
Polyglucosan Body Neuropathy, Adult Form
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract
Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia, Type 10
Pontocerebellar Hypoplasia, Type 11
Pontocerebellar Hypoplasia, Type 1a
Pontocerebellar Hypoplasia, Type 1b
Pontocerebellar Hypoplasia, Type 1c
Pontocerebellar Hypoplasia, Type 2a
Pontocerebellar Hypoplasia, Type 2b
Pontocerebellar Hypoplasia, Type 2c
Pontocerebellar Hypoplasia, Type 2d
Pontocerebellar Hypoplasia, Type 2e
Pontocerebellar Hypoplasia, Type 2f
Pontocerebellar Hypoplasia, Type 3
Pontocerebellar Hypoplasia, Type 4
Pontocerebellar Hypoplasia, Type 5
Pontocerebellar Hypoplasia, Type 6
Pontocerebellar Hypoplasia, Type 7
Pontocerebellar Hypoplasia, Type 8
Pontocerebellar Hypoplasia, Type 9
Porphyria
Porphyria, Acute Hepatic
Porphyria, Acute Intermittent
Porphyria, Congenital Erythropoietic
Porphyria Cutanea Tarda
Porphyria Cutanea Tarda, Type I
Porphyria Variegata
Prediabetes Syndrome
Primary Cerebellar Degeneration
Primary Cutaneous Amyloidosis
Primary Hyperoxaluria
Primary Hypomagnesemia
Primary Localized Amyloidosis
Primary Optic Atrophy
Primary Trimethylaminuria
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4
Progressive Myoclonic Epilepsy Type 5
Prolactin Deficiency with Obesity and Enlarged Testes
Prolidase Deficiency
Proopiomelanocortin Deficiency
Propionic Acidemia
Proprotein Convertase 1/3 Deficiency
Protein-Energy Malnutrition
Protoporphyria, Erythropoietic
Protoporphyria, Erythropoietic, X-Linked
Pseudocholinesterase Deficiency
Pseudo-Gaucher Disease
Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak
Pseudohypoparathyroidism
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Type Ic
Pseudohypoparathyroidism, Type Ii
Pseudopseudohypoparathyroidism
Pulmonary Hemosiderosis
Pure Mitochondrial Myopathy
Purine Nucleoside Phosphorylase Deficiency
Purine-Pyrimidine Metabolic Disorder
Pycnodysostosis
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxine Deficiency
Pyridoxine Deficiency Anemia
Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia
Pyrimidine Metabolic Disorder
Pyruvate Carboxylase Deficiency
Pyruvate Dehydrogenase E1-Alpha Deficiency
Pyruvate Dehydrogenase E1-Beta Deficiency
Pyruvate Dehydrogenase E2 Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase Phosphatase Deficiency
Pyruvate Kinase Deficiency of Red Cells
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Refsum Disease, Classic
Renal Glucosuria
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia
Retinal Dystrophy and Obesity
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
Reunion Island Larsen Syndrome
Rhizomelic Chondrodysplasia Punctata
Rhizomelic Chondrodysplasia Punctata, Type 1
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelic Chondrodysplasia Punctata, Type 5
Riboflavin Deficiency
Ribose 5-Phosphate Isomerase Deficiency
Rickets
Rohhad
Saccharopinuria
Salla Disease
Salt and Pepper Developmental Regression Syndrome
Sandhoff Disease
Sarcosinemia
Scheie Syndrome
Schindler Disease
Schindler Disease, Type I
Schneckenbecken Dysplasia
Sea-Blue Histiocyte Disease
Secondary Pulmonary Hemosiderosis
Sedoheptulokinase Deficiency
Segawa Syndrome, Autosomal Recessive
Seizures, Scoliosis, and Macrocephaly Syndrome
Sengers Syndrome
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis
Sensory Neuropathy Type 1
Serine Deficiency
Severe Canavan Disease
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
Short Stature, Developmental Delay, and Congenital Heart Defects
Short Stature-Obesity Syndrome
Sialuria
Sideroblastic Anemia
Sideroblastic Anemia Acquired
Sjogren-Larsson-Like Syndrome
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Spastic Ataxia
Spastic Ataxia 1
Spastic Ataxia 1, Autosomal Dominant
Spastic Ataxia 2
Spastic Ataxia 2, Autosomal Recessive
Spastic Ataxia 3
Spastic Ataxia 3, Autosomal Recessive
Spastic Ataxia 4
Spastic Ataxia 4, Autosomal Recessive
Spastic Ataxia 5
Spastic Ataxia 5, Autosomal Recessive
Spastic Ataxia 7
Spastic Ataxia 7, Autosomal Dominant
Spasticity, Childhood-Onset, with Hyperglycinemia
Spastic Paraplegia 1
Spastic Paraplegia 10
Spastic Paraplegia 10, Autosomal Dominant
Spastic Paraplegia 11
Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12
Spastic Paraplegia 12, Autosomal Dominant
Spastic Paraplegia 13
Spastic Paraplegia 13, Autosomal Dominant
Spastic Paraplegia 14
Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 15
Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 16
Spastic Paraplegia 17
Spastic Paraplegia 17, Autosomal Dominant
Spastic Paraplegia 18
Spastic Paraplegia 18, Autosomal Recessive
Spastic Paraplegia 19
Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 20, Autosomal Recessive
Spastic Paraplegia 23
Spastic Paraplegia 24
Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25
Spastic Paraplegia 25, Autosomal Recessive
Spastic Paraplegia 26
Spastic Paraplegia 26, Autosomal Recessive
Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29
Spastic Paraplegia 29, Autosomal Dominant
Spastic Paraplegia 3
Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 31
Spastic Paraplegia 31, Autosomal Dominant
Spastic Paraplegia 32
Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 35, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant
Spastic Paraplegia 37, Autosomal Dominant
Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 39
Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 3a
Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraplegia 4
Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 43, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive
Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive
Spastic Paraplegia 48, Autosomal Recessive
Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 51
Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive
Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive
Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 5a
Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 5b
Spastic Paraplegia 6
Spastic Paraplegia 61, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive
Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 72, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant
Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive
Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive
Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 7, Autosomal Recessive
Spastic Paraplegia 8
Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 9
Spastic Paraplegia 9a, Autosomal Dominant
Spastic Paraplegia 9b, Autosomal Recessive
Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly
Sphingolipidosis
Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 10
Spinocerebellar Ataxia 11
Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14
Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17
Spinocerebellar Ataxia 18
Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 2
Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 28
Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 30
Spinocerebellar Ataxia 31
Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 34
Spinocerebellar Ataxia 35
Spinocerebellar Ataxia 36
Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 4
Spinocerebellar Ataxia 40
Spinocerebellar Ataxia 41
Spinocerebellar Ataxia 42
Spinocerebellar Ataxia 43
Spinocerebellar Ataxia 44
Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46
Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 6
Spinocerebellar Ataxia 7
Spinocerebellar Ataxia 8
Spinocerebellar Ataxia 9
Spinocerebellar Ataxia, Autosomal Recessive 1
Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14
Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 2
Spinocerebellar Ataxia, Autosomal Recessive 20
Spinocerebellar Ataxia, Autosomal Recessive 21
Spinocerebellar Ataxia, Autosomal Recessive 22
Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25
Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia Autosomal Recessive 5
Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia, Autosomal Recessive 8
Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22
Spondylocostal Dysostosis 1
Spondylocostal Dysostosis 1, Autosomal Recessive
Spondylocostal Dysostosis 2
Spondylocostal Dysostosis 2, Autosomal Recessive
Spondylocostal Dysostosis 3
Spondylocostal Dysostosis 3, Autosomal Recessive
Spondylocostal Dysostosis 4
Spondylocostal Dysostosis 4, Autosomal Recessive
Spondylocostal Dysostosis 5
Spondylocostal Dysostosis 6, Autosomal Recessive
Spondylocostal Dysostosis, Autosomal Recessive
Spondylodysplastic Ehlers-Danlos Syndrome
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures
Sporadic Hyperekplexia
Steatitis
Steroid Inherited Metabolic Disorder
Subacute Cerebellar Degeneration
Succinic Semialdehyde Dehydrogenase Deficiency
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Sucrase-Isomaltase Deficiency, Congenital
Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency
Sulfite Oxidase Deficiency, Isolated
Surfactant Dysfunction
Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 2
Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 4
Surfactant Metabolism Dysfunction, Pulmonary, 5
Swayback
Syndromic Sensorineural Deafness Due to Combined Oxidative Phosphorylation Defect
Tangier Disease
Tango2-Related Metabolic Encephalopathy and Arrhythmias
Tay-Sachs Disease
Tay-Sachs Disease, B1 Variant
Tay-Sachs Disease, B Variant, Adult Form
Tay-Sachs Disease, B Variant, Infantile Form
Tay-Sachs Disease, B Variant, Juvenile Form
Temtamy Preaxial Brachydactyly Syndrome
Tetrahydrobiopterin Deficiency
Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria
Thiamine Metabolism Dysfunction Syndrome 2
Thiamine Metabolism Dysfunction Syndrome 4
Thiamine Metabolism Dysfunction Syndrome 5
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thiopurine S Methyltranferase Deficiency
Thiopurines, Poor Metabolism of, 1
Thiopurines, Poor Metabolism of, 2
Thyroid Hormone Metabolism, Abnormal
Tiglic Acidemia
Total Internal Ophthalmoplegia
Transaldolase Deficiency
Transcobalamin I Deficiency
Transcobalamin Ii Deficiency
Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency
Transient Tyrosinemia of the Newborn
Trehalase Deficiency
Trimethylaminuria
Triosephosphate Isomerase Deficiency
Tumoral Calcinosis, Hyperphosphatemic, Familial
Tumoral Calcinosis, Normophosphatemic, Familial
Type 1 Diabetes Mellitus 10
Type 1 Diabetes Mellitus 11
Type 1 Diabetes Mellitus 12
Type 1 Diabetes Mellitus 13
Type 1 Diabetes Mellitus 15
Type 1 Diabetes Mellitus 17
Type 1 Diabetes Mellitus 18
Type 1 Diabetes Mellitus 2
Type 1 Diabetes Mellitus 3
Type 1 Diabetes Mellitus 4
Type 1 Diabetes Mellitus 5
Type 1 Diabetes Mellitus 6
Type 1 Diabetes Mellitus 7
Type 1 Diabetes Mellitus 8
Tyrosinemia
Tyrosinemia, Type I
Tyrosinemia, Type Ii
Tyrosinemia, Type Iii
Urea Cycle Disorder
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to
Urocanase Deficiency
Verruciform Xanthoma of Skin
Vitamin B12 Deficiency
Vitamin B12-Responsive Methylmalonic Acidemia
Vitamin E, Familial Isolated Deficiency of
Vitamin K Deficiency Hemorrhagic Disease
Vitamin Metabolic Disorder
Walker-Warburg Syndrome
Weinstein Kliman Scully Syndrome
Wernicke Encephalopathy
Wernicke-Korsakoff Syndrome
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome
Wilson Disease
Wilson-Turner X-Linked Mental Retardation Syndrome
Wrinkly Skin Syndrome
Xanthinuria
Xanthinuria, Type I
Xanthinuria, Type Ii
Xanthomatosis
X-Linked Charcot-Marie-Tooth Disease
X-Linked Chondrodysplasia Punctata
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
X-Linked Intellectual Disability-Precocious Puberty-Obesity Syndrome
X-Linked Intellectual Disability - Short Stature - Obesity
Xylt1-Cdg
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Zellweger Spectrum Disorder
Zellweger Syndrome
Zinc, Elevated Plasma |
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