Rare Disease Library

Ring dermoid of cornea

Ring dermoid syndrome

2q13 microdeletion syndrome

del2q13 syndrome

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

5q22 microdeletion syndrome

Monosomy 5q22 syndrome · Del(5)(q22) syndrome

Acropectorovertebral dysplasia

F syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Autosomal dominant deafness-onychodystrophy syndrome

DDOD syndrome · Autosomal dominant hearing loss-onychodystrophy syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Campomelia, Cumming type

Cumming syndrome

Carcinoid syndrome

Malignant carcinoid syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Celiac artery compression syndrome

Dunbar syndrome · Median arcuate ligament syndrome

Chronic atrial and intestinal dysrhythmia syndrome

CAID syndrome · Chronic atrial dysrhythmia-intestinal motility disorder

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Classic progressive supranuclear palsy syndrome

Steele-Richardson-Olszewski disease · Richardson syndrome

Constitutional mismatch repair deficiency syndrome

CMMR-D syndrome

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

Dinno syndrome

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

Craniofrontonasal dysplasia-Poland anomaly syndrome

Webster-Deming syndrome

Crouzon syndrome-acanthosis nigricans syndrome

Crouzon-dermoskeletal 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

Dejerine-Sottas syndrome

Charcot-Marie-Tooth disease type 3 · HMSN 3

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 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

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

Emanuel syndrome

Der(22)t(11;22) syndrome · Supernumerary der(22) syndrome