Rare Disease Library

Okihiro syndrome

Duane-radial ray syndrome

Okihiro syndrome due to 20q13 microdeletion

Duane-radial ray syndrome due to monosomy 20q13 · Okihiro syndrome due to del(20)(q13)

Okihiro syndrome due to a point mutation

Duane-radial ray syndrome due to a point mutation

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

Acute radiation syndrome

Acute radiation sickness

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy 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

Celiac artery compression syndrome

Dunbar syndrome · Median arcuate ligament syndrome

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Dent disease

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

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

Duane retraction syndrome

DRS · DURS

Dubowitz syndrome

Dursun syndrome

Pulmonary arterial hypertension-leukopenia-atrial septal defect syndrome

Familial dysautonomia

HSAN3 · Hereditary sensory and autonomic neuropathy type 3

Familial partial lipodystrophy, Dunnigan type

Dunnigan syndrome · FPLD2

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

Holmes-Adie syndrome

Tonic pupil-tendon areflexia syndrome · Adie syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

IVIC syndrome

Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome

Radio-Tartaglia syndrome · SPEN-related neurodevelopmental disorder

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6

Osteosclerotic bone dysplasia

Raine syndrome

Radial ray hypoplasia-choanal atresia syndrome

Goldblatt-Viljoen syndrome

Radio-renal syndrome

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Ramsay Hunt syndrome

Facial nerve palsy due to herpes zoster infection · Facial nerve paralysis due to VZV

RAPADILINO syndrome

Ravine syndrome

Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

Rett syndrome

Reye syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

Ring chromosome 22 syndrome

Ring chromosome 22 · Ring 22

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8