Rare Disease Library

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

2q13 microdeletion syndrome

del2q13 syndrome

5q22 microdeletion syndrome

Monosomy 5q22 syndrome · Del(5)(q22) syndrome

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

DOORS syndrome

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

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome