Rare Disease Library

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

IRVAN syndrome

Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome

Isotretinoin-like syndrome

Kawashima syndrome · Microtia-aortic arch syndrome

Lethal ataxia with deafness and optic atrophy

Arts syndrome · Lethal ataxia with hearing loss and optic atrophy

Megalencephalic leukoencephalopathy with subcortical cysts

MLC · Megalencephalic leukodystrophy

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

N 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

OBSOLETE: McLain-Dekaban syndrome

OBSOLETE: Intellectual disability-coloboma-slimness syndrome

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Van der Woude syndrome

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

W syndrome

Pallister-W syndrome

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

X-linked intellectual disability, Armfield type

Armfield syndrome

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome