Rare Disease Library

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

22q11.2 deletion syndrome

22q11DS · CATCH 22

ABCD syndrome

Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome · Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural hearing loss syndrome

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

Acropectoral syndrome

ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome

Acropectorovertebral dysplasia

F syndrome

Adams-Oliver syndrome

AOS · Congenital scalp defects with distal limb anomalies

ADULT syndrome

Acro-dermato-ungual-lacrimal-tooth syndrome · Pigment anomaly-ectrodactyly-hypodontia syndrome

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

AMME complex · AMME syndrome

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy syndrome

Ankyloblepharon filiforme adnatum-imperforate anus syndrome

Aughton-Hufnagle syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Apert syndrome

ACS1 · Acrocephalosyndactyly type 1

Aplastic anemia-intellectual disability-dwarfism syndrome

AMeD syndrome

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

Ataxia-pancytopenia syndrome

ATXPC syndrome · SAMD9L-related ataxia-pancytopenia syndrome

Autism spectrum disorder due to AUTS2 deficiency

ASD due to AUTS2 deficiency · AUTS2 syndrome

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

ADCA-DN syndrome · Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome

Autosomal dominant deafness-onychodystrophy syndrome

DDOD syndrome · Autosomal dominant hearing loss-onychodystrophy syndrome

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

C syndrome

OTCS · Opitz C trigonocephaly

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

Dinno syndrome

Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome

Akesson syndrome

Deafness-ear malformation-facial palsy syndrome

Sellars-Beighton syndrome · Hearing loss-ear malformation-facial palsy syndrome

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

Digenic Alport 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

Dystonia-aphonia syndrome

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

H syndrome

Helsmoortel-Van der Aa syndrome

ADNP-related syndromic intellectual disability-autism spectrum disorder · ADNP-related Helsmoortel-Van der Aa syndrome

Hidrotic ectodermal dysplasia

Clouston syndrome

Hip dysplasia, Beukes type

BFHD · Beukes familial hip dysplasia

Holmes-Adie syndrome

Tonic pupil-tendon areflexia syndrome · Adie syndrome

Hydrocephalus with stenosis of the aqueduct of Sylvius

Bickers-Adams syndrome · HSAS

Joubert syndrome with oculorenal defect

Arima syndrome · CORS