Rare Disease Library

Developmental and epileptic encephalopathy with spike-wave activation in sleep

CSWS · CSWSS syndrome

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Dysequilibrium syndrome

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

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

H syndrome

Hereditary leiomyomatosis and renal cell cancer

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

Hidrotic ectodermal dysplasia

Clouston syndrome

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

MOMES syndrome

Isolated congenital onychodysplasia

COIF · COIF syndrome

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

Junctional epidermolysis bullosa with pyloric atresia

Carmi syndrome · JEB-PA

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Mazabraud syndrome

Myxoma with fibrous dysplasia

N syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

Osteosclerotic bone dysplasia

Raine syndrome

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Rasmussen subacute encephalitis

Rasmussen 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

Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

ROSAH syndrome · Optic nerve edema-splenomegaly syndrome

Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome

Rambaud-Gallian syndrome · Rambaud-Gallian-Touchard syndrome

Rett syndrome

Reye syndrome

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia 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

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Rombo syndrome

Rotor syndrome

Hyperbilirubinemia, Rotor type

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

W syndrome

Pallister-W syndrome