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List of Diseases

A list of diseases, sorted alphabetically.

17 alpha-hydroxylase/17,20-lyase deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency
2-hydroxyglutaric aciduria
21-hydroxylase deficiency
22q11.2 deletion syndrome
22q13.3 deletion syndrome
3-M syndrome
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3MC syndrome
6q24-related transient neonatal diabetes mellitus
ACAD9 deficiency
ADNP syndrome
ALG1-congenital disorder of glycosylation
ALG12-congenital disorder of glycosylation
Abdominal wall defect
Abetalipoproteinemia
Acatalasemia
Aceruloplasminemia
Achondrogenesis
Achondroplasia
Achromatopsia
Acral peeling skin syndrome
Acrocallosal syndrome
Acromicric dysplasia
Actin-accumulation myopathy
Action myoclonus–renal failure syndrome
Activated PI3K-delta syndrome
Acute promyelocytic leukemia
Adams-Oliver syndrome
Adenine phosphoribosyltransferase deficiency
Adenosine deaminase 2 deficiency
Adenosine deaminase deficiency
Adenosine monophosphate deaminase deficiency
Adenylosuccinate lyase deficiency
Adermatoglyphia
Adolescent idiopathic scoliosis
Adult polyglucosan body disease
Age-related macular degeneration
Aicardi-Goutières syndrome
Alagille syndrome
Alcohol use disorder
Aldosterone-producing adenoma
Alexander disease
Alkaptonuria
Alopecia areata
Alpers-Huttenlocher syndrome
Alpha thalassemia
Alpha-mannosidosis
Alpha-methylacyl-CoA racemase deficiency
Alport syndrome
Alström syndrome
Alternating hemiplegia of childhood
Alveolar capillary dysplasia with misalignment of pulmonary veins
Alzheimer's disease
Amelogenesis imperfecta
Aminoacylase 1 deficiency
Amish lethal microcephaly
Amyotrophic lateral sclerosis
Anauxetic dysplasia
Andersen-Tawil syndrome
Androgen insensitivity syndrome
Anencephaly
Angelman syndrome
Aniridia
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Ankylosing spondylitis
Anonychia congenita
Apert syndrome
Arginase deficiency
Arginine:glycine amidinotransferase deficiency
Argininosuccinic aciduria
Aromatase deficiency
Aromatic l-amino acid decarboxylase deficiency
Arrhythmogenic right ventricular cardiomyopathy
Arterial tortuosity syndrome
Asparagine synthetase deficiency
Aspartylglucosaminuria
Asphyxiating thoracic dystrophy
Ataxia neuropathy spectrum
Ataxia-telangiectasia
Atelosteogenesis type 1
Atelosteogenesis type 2
Atelosteogenesis type 3
Atopic dermatitis
Attention-deficit/hyperactivity disorder
Atypical hemolytic-uremic syndrome
Auriculo-condylar syndrome
Autism spectrum disorder
Autoimmune lymphoproliferative syndrome
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
Autosomal dominant hypocalcemia
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant vitreoretinochoroidopathy
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive congenital methemoglobinemia
Autosomal recessive hypotrichosis
Autosomal recessive primary microcephaly
Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Axenfeld-Rieger syndrome
BAP1 tumor predisposition syndrome
Baller-Gerold syndrome
Baraitser-Winter syndrome
Bardet-Biedl syndrome
Bare lymphocyte syndrome type II
Bartter syndrome
Beare-Stevenson cutis gyrata syndrome
Beckwith-Wiedemann syndrome
Behçet disease
Benign familial neonatal seizures
Benign recurrent intrahepatic cholestasis
Bernard-Soulier syndrome
Beta thalassemia
Beta-mannosidosis
Beta-ureidopropionase deficiency
Bietti crystalline dystrophy
Biotin-thiamine-responsive basal ganglia disease
Biotinidase deficiency
Bipolar disorder
Björnstad syndrome
Bladder cancer
Blau syndrome
Blepharocheilodontic syndrome
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Bloom syndrome
Bohring-Opitz syndrome
Boomerang dysplasia
Boucher-Neuhäuser syndrome
Bowen-Conradi syndrome
Bradyopsia
Brain-lung-thyroid syndrome
Branchiootorenal/branchiootic syndrome
Breast cancer
Brody myopathy
Brugada syndrome
Bunion
Burn-McKeown syndrome
Buschke-Ollendorff syndrome
C3 glomerulopathy
CAV3-related distal myopathy
CHARGE syndrome
CHST3-related skeletal dysplasia
CLCN2-related leukoencephalopathy
CLN1 disease
CLN10 disease
CLN11 disease
CLN2 disease
CLN5 disease
CLN6 disease
CLN8 disease
CLPB deficiency
COG5-congenital disorder of glycosylation
Caffey disease
Campomelic dysplasia
Camurati-Engelmann disease
Canavan disease
Cantú syndrome
Cap myopathy
Capillary malformation-arteriovenous malformation syndrome
Carbamoyl phosphate synthetase I deficiency
Carbonic anhydrase VA deficiency
Cardiofaciocutaneous syndrome
Carney complex
Carnitine palmitoyltransferase II deficiency
Carnitine-acylcarnitine translocase deficiency
Carpal tunnel syndrome
Carpenter syndrome
Cartilage-hair hypoplasia
Catecholaminergic polymorphic ventricular tachycardia
Caudal regression syndrome
Central core disease
Centronuclear myopathy
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral cavernous malformation
Cerebral folate transport deficiency
Cerebro-facio-thoracic dysplasia
Cerebrotendinous xanthomatosis
Chanarin-Dorfman syndrome
Channelopathy-associated congenital insensitivity to pain
Char syndrome
Charcot-Marie-Tooth disease
Chediak-Higashi syndrome
Childhood myocerebrohepatopathy spectrum
Cholangiocarcinoma
Chordoma
Chorea-acanthocytosis
Choroideremia
Chronic atrial and intestinal dysrhythmia
Chronic granulomatous disease
Chronic myeloid leukemia
Chylomicron retention disease
Citrullinemia
Cleidocranial dysplasia
Coats plus syndrome
Cockayne syndrome
Coffin-Siris syndrome
Cohen syndrome
Cold-induced sweating syndrome

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