Rare Disease Library

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

Acropectoral syndrome

ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome

Angelman syndrome

Asherman syndrome

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Dent disease

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

Dermotrichic syndrome

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Megalencephalic leukoencephalopathy with subcortical cysts

MLC · Megalencephalic leukodystrophy

Moore-Federman syndrome

Dwarfism-stiff joint-ocular abnormalities syndrome

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

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

Pyramidal molars-abnormal upper lip syndrome

Ackerman fused molar roots syndrome

Ring dermoid of cornea

Ring dermoid syndrome

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome

Zellweger-like syndrome without peroxisomal anomalies

Ahn-Lerman-Sagie syndrome