Rare Disease Library

Ring chromosome Y syndrome

r(Y) · Ring chromosome Y

Ring dermoid of cornea

Ring dermoid syndrome

Ringed hair disease

Pili annulati

Rippling muscle disease

Rippling muscle disease with myasthenia gravis

Acquired rippling muscle disease · Generalized myasthenia gravis

RNASEH2B-related hereditary spastic paraplegia

Ribonuclease H2 subunit B-related hereditary spastic paraplegia

RNF13-related severe early-onset epileptic encephalopathy

RNF13-related severe EOEE

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Roberts syndrome

Pseudothalidomide syndrome · Roberts-SC phocomelia syndrome

Robin sequence-oligodactyly syndrome

Pierre Robin sequence-oligodactyly syndrome

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Robinow-like syndrome

Saal-Greenstein syndrome

Robinow-Sorauf syndrome

Roch-Leri mesosomatous lipomatosis

Rocky Mountain spotted fever

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome

Rolandic epilepsy exercise-induced dystonia

Rolandic epilepsy-speech dyspraxia syndrome

Romano-Ward syndrome

Romano-Ward long QT syndrome

Rombo syndrome

Rosaï-Dorfman disease

Destombes-Rosaï-Dorfman disease · Rosaï-Dorfman-Destombes disease

Rosette-forming glioneuronal tumor

RGNT

Rothmund-Thomson syndrome

Poikiloderma of Rothmund-Thomson · RTS

Rothmund-Thomson syndrome type 1

Poikiloderma of Rothmund-Thomson type 1 · RTS1

Rothmund-Thomson syndrome type 2

Poikiloderma of Rothmund-Thomson type 2 · RTS2

Rotor syndrome

Hyperbilirubinemia, Rotor type

Roussy-Lévy syndrome

Hereditary areflexic dystasia, Roussy-Lévy type

Rowell syndrome

Rubella panencephalitis

Rubinstein-Taybi syndrome

Broad thumb-hallux syndrome · Broad thumbs-halluces syndrome

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Rubinstein-Taybi syndrome due to CREBBP mutations

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Rudiger syndrome

Ruvalcaba syndrome

S-adenosylhomocysteine hydrolase deficiency

Saccharopinuria

Hyperlysinemia type II · Saccharopine dehydrogenase deficiency

Saccular limited dorsal myeloschisis

Saccular LDM

Saccular spinal dysraphism with a stalk to the dome

Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome

Sacral hemangiomas-multiple congenital abnormalities syndrome

Sacrococcygeal dysgenesis association

Sacrococcygeal teratoma

Saethre-Chotzen syndrome

ACS3 · Acrocephalosyndactyly type 3

Sagliker syndrome

Saldino-Mainzer syndrome

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

Salivary gland type cancer of the breast

Salivary gland type carcinoma of the breast

Salla disease