Currently Covered Diseases
- 10q22.3q23 microdeletion syndrome
- 11-beta-hydroxylase deficiency
- 12q14 microdeletion syndrome
- 15q11.2 microdeletion
- 15q13.3 microdeletion syndrome
- 15q13.3 microduplication syndrome
- 15q24 microdeletion syndrome
- 16p11.2 deletion syndrome
- 16p11.2 duplication
- 16q24.3 microdeletion syndrome
- 17-alpha-hydroxylase deficiency
- 17q12 deletion syndrome
- 17q12 duplication
- 17q23.1q23.2 microdeletion syndrome
- 18 Hydroxylase deficiency
- 19p13.12 microdeletion syndrome
- 1q duplications
- 1q21.1 microdeletion syndrome
- 1q44 microdeletion syndrome
- 2-Hydroxyglutaric aciduria
- 2-methylbutyryl-CoA dehydrogenase deficiency
- 2,4-Dienoyl-CoA reductase deficiency
- 20p12.3 microdeletion syndrome
- 21-hydroxylase deficiency
- 22q11.2 deletion syndrome
- 22q11.2 duplication syndrome
- 22q13.3 deletion syndrome
- 2p15p16.1 microdeletion syndrome
- 2q23.1 microdeletion syndrome
- 2q37 deletion syndrome
- 3 methylglutaconic aciduria type 1
- 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
- 3-beta-hydroxysteroid dehydrogenase deficiency
- 3-Hydroxyisobutyric aciduria
- 3-methylcrotonyl-CoA carboxylase deficiency
- 3M syndrome
- 3MC syndrome
- 3q29 microdeletion syndrome
- 46 XX testicular disorder of sex development
- 46 XY disorder of sex development
- 47 XXX syndrome
- 47 XYY syndrome
- 48 XXXY syndrome
- 48 XXYY syndrome
- 49 XXXXY syndrome
- 49 XXXYY syndrome
- 5-alpha reductase deficiency
- 5q14.3 microdeletion syndrome
- 6-pyruvoyl-tetrahydropterin synthase deficiency
- 7-beta hydroxysteroid dehydrogenase 3 deficiency
- 7q11.23 duplication syndrome
- 8p23.1 duplication syndrome
- 8q12 microduplication syndrome
- Aagenaes syndrome
- Aarskog syndrome
- Abdominal cystic lymphangioma
- Aberrant subclavian artery
- Abetalipoproteinemia
- Ablepharon macrostomia syndrome
- Abruzzo-Erickson syndrome
- Acalvaria
- Acanthocheilonemiasis
- Acanthoma
- Acatalasemia
- ACDC
- Aceruloplasminemia
- Acetyl CoA acetyltransferase 2 deficiency
- Achalasia-microcephaly syndrome
- Achard syndrome
- Achondrogenesis
- Achondroplasia
- Acid Sphingomyelinase Deficiency
- Acidemia (Methylmalonic)
- Acoustic Neuroma
- Acquired Aplastic Anemia
- Acquired Hemophilia
- Acquired Lipodystrophy
- Acquired Neuromyotonia
- Acrocallosal syndrome (Schinzel type)
- Acrodermatitis Enteropathica
- Acrodysostosis
- Acromegaly
- Acromesomelic Dysplasia
- Acromicric Dysplasia
- ACTH Deficiency
- Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)
- Acute Disseminated Encephalomyelitis
- Acute Eosinophilic Pneumonia
- Acute Hepatic Porphyria
- Acute Myeloid Leukemia
- Acute Promyelocytic Leukemia
- Acute Respiratory Distress Syndrome
- Adams-Oliver Syndrome
- ADCY5-Related Dyskinesia
- Addison’s Disease
- Adenoid Cystic Carcinoma
- Adenylosuccinate Lyase Deficiency
- Adie Syndrome
- ADNP Syndrome
- Adult Neuronal Ceroid Lipofuscinosis
- Adult Polyglucosan Body Disease
- Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
- Adult-Onset Still’s Disease
- AEC Syndrome
- African Iron Overload
- Agammaglobulinemia
- Agenesis of Corpus Callosum
- Agranulocytosis (Acquired)
- Ahumada-Del Castillo Syndrome
- Aicardi Syndrome
- Aicardi-Goutières Syndrome
- AIDS Dysmorphic Syndrome
- ALAD Porphyria
- Alagille Syndrome
- Alexander Disease
- Asherman Syndrome
- Baird syndrome - Absence of Fingerprints
- Behcet's Syndrome
- Bernard-Soulier Syndrome
- Buerger's Disease
- Chronic Granulomatous Disease
- Cori Disease
- Crigler-Najjar Syndrome
- Dandy-Walker Malformation
- Danon Disease
- De Barsy syndrome
- Degos Disease
- Dejerine-Sottas Syndrome
- Dent Disease
- Denys-Drash Syndrome
- Deoxyhypusine synthase disorder
- Dercum's disease
- Dermatomyositis
- Diamond-Blackfan Anemia
- Diffuse Pulmonary Lymphangiomatosis
- DOORS Syndrome
- Dravet Syndrome
- DReSS Syndrome
- Duane Syndrome
- Dubin Johnson Syndrome
- Dubowitz Syndrome
- Duchenne Muscular Dystrophy
- Dup15q Syndrome
- Dyggve Melchior Clausen syndrome
- Dysautonomia (Familial)
- Dyskeratosis Congenita
- Dysplasia Epiphysealis Hemimelica
- Eales Disease
- Ellis-Van Creveld syndrome
- Emery Dreifuss Muscular Atrophy
- Empty sella syndrome
- Endocardial fibroelastosis
- Epidermolytic Ichthyosis
- Essential iris atrophy
- Essential Thrombocythemia
- Evans Syndrome
- Ewing Sarcoma
- Fabry Disease
- Factor XI deficiency
- Familial Adenomatous Polyposis
- Familial Calcium Pyrophosphate Deposition Disease
- Familial Cold Autoinflammatory Syndrome
- Familial Eosinophilic Cellulitis
- Familial Hypercholesterolemia
- Familial Hypophosphatemia
- Familial Partial Lipodystrophy
- Fetal Alloimmune Thrombocytopenia
- Fragile X Syndrome
- Giant Cell Arteritis
- Hartnup Disease
- Hereditary ATTR Amyloidosis
- Juvenile Polyposis Syndrome
- Kallman Syndrome
- Kawasaki Disease
- Lesch-Nyhan Syndrome
- Liddle Syndrome
- Maple Syrup Urine Disease
- McArdle Disease
- McCune-Albright Syndrome
- Mucolipidosis Type III or Pseudo Hurler Polydystrophy
- Mucopolysaccharidosis Type I
- Mucopolysaccharidosis Type II
- Narcolepsy Type 1
- Neurofibromatosis 1
- Pentasomy X
- Pompe Disease
- Porphyria Cutenea Tarda
- Primary Ciliary Dyskinesia
- Primary Hyperoxaluria Type 1
- Primary Sclerosing Cholangitis
- Primary Sjogren Syndrome
- Pyruvate carboxylase deficiency
- Pyruvate dehydrogenase complex deficiency (PDCD)
- Pyruvate Kinase Deficiency
- Q Fever
- Rasmussen encephalitis
- Sheehan Syndrome
- Tangier Disease
- Tethered cord syndrome
- Tetralogy Of Fallot
- Trisomy X
- UGDH Related Disorder
- Ulcerative colitis
- Urachal Caner
- Urofacial syndrome
- Urothelial Carcinoma of the Renal Pelvis and Ureter
- Urticaria (Cold)
- Urticaria (Papular)
- Urticaria (Physical)
- Usher Syndrome
- USP7-Related Diseases
- Von Gierke Disease
- Wilson Disease
- ZC4H2-Associated Rare Disorders (ZARD)
- Zellweger Spectrum Disorders
- Zollinger-Ellison Syndrome (ZES)