Rare Disease Database

Rhizomelic Chondrodysplasia Punctata

Also known as: RCDP

Riboflavin Transporter Deficiency

Also known as: Brown-Vialetto-Van Laere syndrome Fazio-Londe syndrome riboflavin transporter deficiency neuronopathy

Ring Chromosome 4

Also known as: r(4) ring 4 ring 4, chromosome

Robinow Syndrome

Also known as: acral dysostosis with facial and genital abnormalities costovertebral segmentation defect with mesomelia (formerly) fetal face syndrome Robinow-Silverman syndrome

Rocky Mountain Spotted Fever

Also known as: RMSF Sao Paulo Typhus Tickborne Typhus Fever

Rosai-Dorfman Disease

Also known as: RDD SHML sinus histiocytosis with massive lymphadenopathy

Rosenberg Chutorian Syndrome

Also known as: Charcot-Marie-Tooth neuropathy X type 5 Charcot-Marie-Tooth, X-linked recessive 5 (CMTX5) optic atrophy, polyneuropathy, and deafness polyneuropathy-deafness-optic atrophy

Rothmund-Thomson Syndrome

Also known as: poikiloderma atrophicans and cataract poikiloderma congenitale RTS

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Roussy Lévy Syndrome

Also known as: Charcot-Marie-Tooth Disease (Variant) Charcot-Marie-Tooth-Roussy-Levy Disease Hereditary Areflexic Dystasia Hereditary Motor Sensory Neuropathy Hereditary Motor Sensory Neuropathy I HMSN I

Rubella

Also known as: German Measles Three-Day Measles

Rubella, Congenital

Also known as: Congenital German Measles Congenital Rubella Syndrome Expanded Rubella Syndrome

Rubinstein-Taybi Syndrome

Also known as: RSTS Rubinstein syndrome Rubinstein Taybi (RTS) broad thumb-hallux syndrome

Russell-Silver Syndrome

Also known as: RSS Russell-Silver dwarfism Russell syndrome Silver-Russell dwarfism Silver-Russell syndrome Silver syndrome SRS

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RYR1-Related Diseases

Also known as: RYR1 myopathy RYR1 muscle disease RYR1-related disorders