Rare Disease Library

Townes-Brocks syndrome

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

3MC syndrome

Malpuech-Michels-Mingarelli-Carnevale syndrome · Craniofacial-ulnar-renal syndrome

Acro-renal-mandibular syndrome

Split hand/split foot-mandibular hypoplasia syndrome

Acro-renal-ocular syndrome

Acrorenal syndrome

Acute radiation syndrome

Acute radiation sickness

Adrenal Cushing syndrome

Adrenal CS

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy syndrome

Atypical Rett syndrome

Atypical RTT · Rett syndrome variant

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

EEC syndrome and related disorders

EEC syndrome and related syndrome · Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis 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

Holoprosencephaly-radial heart renal anomalies syndrome

Steinfeld syndrome

IVIC syndrome

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

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Okihiro syndrome

Duane-radial ray syndrome

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

Recombinant 8 syndrome

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

Renal coloboma syndrome

Coloboma of optic nerve with renal disease · Papillo-renal syndrome

Renal nutcracker syndrome

Left renal vein entrapment syndrome · RNS

Rett syndrome

Reye syndrome

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

Senior-Loken syndrome

Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome