SE-ATLAS

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