Seltene Erkrankungen (Orphan)
Komplette Bibliothek mit 7,547 Erkrankungen — Genetik, Phänotypen, Epidemiologie, Orphan-Arzneimittel und Studien.
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive
Childhood
Autosomal recessive Kenny-Caffey syndrome
Autosomal recessive
Childhood
Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis
Autosomal recessive
Autosomal recessive hypohidrotic ectodermal dysplasia
Autosomal recessive
Infancy, Neonatal
Autosomal recessive non-syndromic intellectual disability
Autosomal recessive
Childhood, Infancy
Autosomal recessive primary microcephaly
Autosomal recessive
Antenatal, Neonatal
Autosomal thrombocytopenia with normal platelets
Autosomal dominant, Autosomal recessive
B-lymphoblastic leukemia/lymphoma with hyperdiploidy
Adolescent, Adult, Childhood
B-lymphoblastic leukemia/lymphoma with hypodiploidy
Adolescent, Adult, Childhood
B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
Adolescent, Adult, Childhood, Elderly, Infancy
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
Adolescent, Adult, Childhood
B-lymphoblastic leukemia/lymphoma with t(17;19)
B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
Adolescent, Adult, Childhood
B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
Adolescent, Adult, Childhood
B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
Not applicable
Adolescent, Adult, Childhood, Elderly, Infancy
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
Adolescent, Adult, Childhood, Infancy
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Autosomal dominant
Antenatal, Childhood, Infancy, Neonatal
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Not applicable
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Infancy, Neonatal
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Autosomal dominant
Infancy, Neonatal
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Infancy, Neonatal
Bleeding diathesis due to glycoprotein VI deficiency
Autosomal recessive
Bleeding diathesis due to integrin alpha2-beta1 deficiency
Autosomal dominant