Rare Disease Library

Primary Fanconi renotubular syndrome

Primary Fanconi renal syndrome · DeToni-Debré-Fanconi syndrome

Acropectorovertebral dysplasia

F syndrome

Adult-onset Still disease

AOSD · Wissler-Fanconi 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

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Fanconi syndrome-ichthyosis-dysmorphism syndrome

Deal-Barrat-Dillon syndrome

Fanconi-Bickel syndrome

GSD due to GLUT2 deficiency · Glycogenosis due to GLUT2 deficiency

FATCO syndrome

Hecht-Scott syndrome · Fibular aplasia-tibial campomelia-oligosyndactyly 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