SE-ATLAS

46,XY difference of sex development ALK-positive large B-cell lymphoma Achromatopsia Acute myeloblastic leukemia with maturation Acute myeloblastic leukemia without maturation Alport syndrome Amyotrophic lateral sclerosis Andersen-Tawil syndrome Autosomal dominant optic atrophy, classic form Autosomal recessive polycystic kidney disease B-cell chronic lymphocytic leukemia B-cell prolymphocytic leukemia BOR syndrome Bartter syndrome Brugada syndrome Burkitt lymphoma Caroli syndrome Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy Ciliopathy Coenzyme Q10 deficiency Combined pituitary hormone deficiencies, genetic forms Cone rod dystrophy Congenital disorder of glycosylation Congenital glaucoma Congenital stationary night blindness Corneal dystrophy Cranioectodermal dysplasia Dent disease Disorder of fatty acid oxidation and ketogenesis Disorder of fatty acid oxidation and ketone body metabolism Dyskeratosis congenita Ectodermal dysplasia syndrome Ehlers-Danlos syndrome Epidermolysis bullosa simplex Extranodal nasal NK/T cell lymphoma Fabry disease Familial exudative vitreoretinopathy Familial glucocorticoid deficiency Familial hypercholanemia Familial hyperinsulinism Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Familial ovarian cancer Familial thoracic aortic aneurysm and aortic dissection Fanconi anemia Follicular lymphoma Genetic cystic renal disease Genetic obesity Glial tumor Gluconeogenesis disorder Glycogen storage disease Hairy cell leukemia variant Hereditary breast cancer Huntington disease Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Hypophosphatemic rickets Ichthyosis Idiopathic steroid-sensitive nephrotic syndrome Inherited arrhythmogenic cardiomyopathy Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Jervell and Lange-Nielsen syndrome Joubert syndrome Kallmann syndrome Leber congenital amaurosis Limb-girdle muscular dystrophy Lysosomal disease MODY Mantle cell lymphoma Marfan syndrome and Marfan-related disorders Microphthalmia-anophthalmia-coloboma Mucopolysaccharidosis Multiple myeloma Myelodysplastic syndrome Myeloproliferative neoplasm Neonatal diabetes mellitus Neuronal ceroid lipofuscinosis Non-acquired combined pituitary hormone deficiency Noonan syndrome Norrie disease Ocular albinism Ovarian cancer Pachydermoperiostosis Paroxysmal kinesigenic dyskinesia Pendred syndrome Peroxisome biogenesis disorder Perrault syndrome Porphyria Prader-Willi syndrome Primary cutaneous T-cell lymphoma Primary cutaneous peripheral T-cell lymphoma not otherwise specified Primary early-onset glaucoma Primary hypomagnesemia with hypercalciuria and nephrocalcinosis Progeroid syndrome Progressive external ophthalmoplegia-myopathy-emaciation syndrome Progressive familial intrahepatic cholestasis Propionic acidemia Pyruvate dehydrogenase deficiency Rare X-linked non-syndromic sensorineural deafness type DFN Rare insulin-resistance syndrome Rare major hypertriglyceridemia Rare neoplastic disease Rare pulmonary hypertension Retinitis pigmentosa Retinoblastoma SHOX-related short stature Senior-Loken syndrome Short stature due to growth hormone qualitative anomaly Sinoatrial node dysfunction and deafness Splenic marginal zone lymphoma Stargardt disease Stickler syndrome Syndromic cataract Syndromic obesity T-cell prolymphocytic leukemia Thrombotic microangiopathy Thrombotic thrombocytopenic purpura Tremor-nystagmus-duodenal ulcer syndrome Usher syndrome Vasculitis due to ADA2 deficiency Waardenburg syndrome Waldenström macroglobulinemia X-linked hereditary sensory and autonomic neuropathy with deafness Xeroderma pigmentosum Zellweger syndrome