Rare Disease Library

Digitorenocerebral syndrome

DRC syndrome · Eronen-Somer-Gustafsson syndrome

Dilated cardiomyopathy with ataxia

3-methylglutaconic aciduria type 5 · DCMA syndrome

DOORS syndrome

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

Down syndrome

Trisomy 21

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Gabriele-de Vries syndrome

YY1 haploinsufficiency syndrome

Hajdu-Cheney syndrome

Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible

Isolated congenital onychodysplasia

COIF · COIF syndrome

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

Lambert syndrome

Branchial dysplasia-intellectual disability-inguinal hernia syndrome

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

Larsen syndrome

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

Leukoencephalopathy with calcifications and cysts

Labrune syndrome · LCC

Liddle syndrome

Pseudoaldosteronism

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Limb body wall complex

LBWC syndrome · Body stalk anomaly

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

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

Neutral lipid storage disease with ichthyosis

NLSDI · Dorfman-Chanarin syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Pentalogy of Cantrell

Cantrell deformity · Cantrell syndrome

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

Toxic epidermal necrolysis

Lyell syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Vitamin K antagonist embryofetopathy

Vitamin K antagonist embryopathy · di Sala syndrome

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome