Rare Disease Library

Paroxysmal cold hemoglobinuria

Donath-Landsteiner hemolytic anemia · Donath-Landsteiner syndrome

Biliary tract malformation-renal failure syndrome

Cholestatic jaundice-renal tubular insufficiency syndrome · Lutz-Richner-Landolt syndrome

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

Donohue syndrome

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

Down syndrome

Trisomy 21

Epstein syndrome

Alport syndrome with macrothrombocytopenia

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

Holoprosencephaly-radial heart renal anomalies syndrome

Steinfeld syndrome

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

Landau-Kleffner syndrome

Acquired epileptic aphasia · LKS

Lichtenstein syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Subaortic stenosis-short stature syndrome

Onat syndrome

Wiedemann-Steiner syndrome

Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome