SE-ATLAS

Achondrogenesis type 1B Achondrogenesis type 2 Adrenogenital syndrome Alagille syndrome Alagille syndrome due to 20p12 microdeletion Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a NOTCH2 point mutation Alpha-thalassemia Apert syndrome Arthrochalasia Ehlers-Danlos syndrome Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome due to 11p15 microdeletion Beckwith-Wiedemann syndrome due to 11p15 microduplication Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Beckwith-Wiedemann syndrome due to CDKN1C mutation Beckwith-Wiedemann syndrome due to NSD1 mutation Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Beta-thalassemia Beta-thalassemia intermedia Beta-thalassemia major CHARGE syndrome CINCA syndrome Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Classic congenital lipoid adrenal hyperplasia due to STAR deficency Congenital adrenal hyperplasia Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital lipoid adrenal hyperplasia due to STAR deficency Crouzon syndrome Denys-Drash syndrome Dominant beta-thalassemia Ehlers-Danlos syndrome type 7A Ehlers-Danlos syndrome type 7B Fabry disease Familial Mediterranean fever Fanconi anemia Fragile X syndrome Frasier syndrome Generalized glucocorticoid resistance syndrome Hb Bart's hydrops fetalis Hemoglobin H disease Huntington disease Hyperandrogenism due to cortisone reductase deficiency Jackson-Weiss syndrome Kallmann syndrome MAGEL2-related Prader-Willi-like syndrome MELAS MIRAGE syndrome Muckle-Wells syndrome Muenke syndrome Muir-Torre syndrome Nail-patella syndrome Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Noonan syndrome Noonan syndrome with multiple lentigines OBSELETE:Tay-Sachs disease, B1 variant Osteogenesis imperfecta Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 5 Peutz-Jeghers syndrome Pfeiffer syndrome Pfeiffer syndrome type 1 Pfeiffer syndrome type 2 Pfeiffer syndrome type 3 Prader-Willi syndrome Prader-Willi syndrome due to imprinting mutation Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi syndrome due to paternal 15q11q13 deletion Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Prader-Willi syndrome due to translocation Rett syndrome Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Sickle cell anemia Silver-Russell syndrome Silver-Russell syndrome due to 11p15 microduplication Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to a point mutation Silver-Russell syndrome due to an imprinting defect of 11p15 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Tay-Sachs disease Tay-Sachs disease, adult form Tay-Sachs disease, infantile form Tay-Sachs disease, juvenile form Tuberous sclerosis complex Von Hippel-Lindau disease WAGR syndrome Waardenburg syndrome Waardenburg syndrome type 1 Waardenburg syndrome type 2 Waardenburg syndrome type 3 Wilson disease Wiskott-Aldrich syndrome