Rare Disease Library

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

Knobloch syndrome

Knobloch-Layer syndrome · Retinal detachment-occipital encephalocele syndrome

Koolen-De Vries syndrome

KdVS

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

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

Morvan syndrome

Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome · Morvan fibrillary chorea

N syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser 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: Van den Bosch syndrome

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

Ring dermoid of cornea

Ring dermoid syndrome

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Ulnar hypoplasia-split foot syndrome

Ulnar hypoplasia-lobster-claw deformity of feet syndrome · Van den Berghe-Dequecker syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

Van den Ende-Gupta syndrome

Marden-Walker-like syndrome · VDEGS

Van der Woude syndrome

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

VEXAS syndrome

Vici syndrome

Dionisi-Vici-Sabetta-Gambarara syndrome · Corpus callosum agenesis-cataract-immunodeficiency syndrome

W syndrome

Pallister-W syndrome