Rare Disease Library

Mal de débarquement

Disembarkment syndrome · MdD

22q11.2 deletion syndrome

22q11DS · CATCH 22

Acropectorovertebral dysplasia

F syndrome

Autosomal dominant deafness-onychodystrophy syndrome

DDOD syndrome · Autosomal dominant hearing loss-onychodystrophy syndrome

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

C syndrome

OTCS · Opitz C trigonocephaly

Celiac artery compression syndrome

Dunbar syndrome · Median arcuate ligament syndrome

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

Dinno syndrome

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

Deficiency in anterior pituitary function-variable immunodeficiency syndrome

DAVID syndrome

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Dent disease

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

Denys-Drash syndrome

Wilms tumor-DSD syndrome · Drash syndrome

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

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

Drug reaction with eosinophilia and systemic symptoms

DRESS syndrome · Drug rash with eosinophilia and systemic symptoms

Duane retraction syndrome

DRS · DURS

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Fetal encasement syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Grant syndrome

H syndrome

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

MEND syndrome

Male EBP disorder with neurological defects

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy 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

Omenn syndrome

Combined immunodeficiency with hypereosinophilia

Silent sinus syndrome

Imploding antrum syndrome · CMA grade 3

Vitamin K antagonist embryofetopathy

Vitamin K antagonist embryopathy · di Sala syndrome

W syndrome

Pallister-W syndrome

Wolfram syndrome

Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome · DIDMOAD syndrome