Rare Disease Library

Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome

TMCO1 defect syndrome

Craniofrontonasal dysplasia-Poland anomaly syndrome

Webster-Deming syndrome

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

De Barsy syndrome

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

De Hauwere syndrome

De Hauwere-Chitty syndrome · Iris dysplasia-hypertelorism-deafness 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

Dermotrichic syndrome

Desbuquois syndrome

Desbuquois dysplasia · DBQD

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

Distal deletion 15q syndrome

Distal monosomy 15q · 15q26 deletion syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Dobrow syndrome

Syngnathia-multiple anomalies syndrome

DOORS syndrome

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

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

Down syndrome

Trisomy 21

Dravet syndrome

SMEI · Severe myoclonic epilepsy of infancy

Drug reaction with eosinophilia and systemic symptoms

DRESS syndrome · Drug rash with eosinophilia and systemic symptoms

Duane retraction syndrome

DRS · DURS

Dursun syndrome

Pulmonary arterial hypertension-leukopenia-atrial septal defect syndrome

DYRK1A-related intellectual disability syndrome

DYRK1A syndrome

Dysequilibrium syndrome

CAMRQ syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome

Ectrodactyly-cleft palate syndrome

ECP syndrome

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Endocrine-cerebro-osteodysplasia syndrome

ECO syndrome

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS

Erythrokeratodermia-cardiomyopathy syndrome

EKC syndrome

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

FG syndrome type 1

Opitz-Kaveggia syndrome

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

Frank-Ter Haar syndrome

Ter Haar syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

H syndrome

HEC syndrome

Hydrocephalus-endocardial fibroelastosis-cataract syndrome

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

Hemiconvulsion-hemiplegia-epilepsy syndrome

HHE · HHE syndrome

Hurler syndrome

Hurler disease · MPS1H

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency