Retinitis punctata albescens

Autosomal dominant, Autosomal recessive

Childhood

Retinoblastoma

Autosomal dominant, Not applicable

Antenatal, Childhood, Infancy

Retinopathy of prematurity

Not applicable

Infancy, Neonatal

Rett syndrome

X-linked dominant

Infancy

Reye syndrome

Adolescent, Adult, Childhood, Infancy

Reynolds syndrome

Not applicable

Adult

Rh deficiency syndrome

Autosomal recessive

No data available

Rhabdoid tumor

Not applicable

Antenatal, Childhood, Infancy, Neonatal

Rhabdoid tumor predisposition syndrome

Autosomal dominant

Childhood

Rhabdomyosarcoma

Multigenic/multifactorial

Childhood

Rhabdomyosarcoma of the cervix uteri

Adolescent, Adult, Childhood

Rheumatic fever

Not applicable

Childhood

Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis

Multigenic/multifactorial

Childhood

Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis

Unknown

Childhood

Rhizomelic chondrodysplasia punctata

Autosomal recessive

Antenatal, Neonatal

Ribose-5-P isomerase deficiency

Autosomal recessive

Childhood

Ricin poisoning

Not applicable

All ages

Rickettsialpox

Not applicable

All ages

Rift valley fever

All ages

Rigid spine syndrome

Autosomal recessive

Infancy, Neonatal

Ring dermoid of cornea

Autosomal dominant

Infancy, Neonatal

Ringed hair disease

Autosomal dominant, Not applicable

Childhood

Rippling muscle disease

Autosomal dominant, Autosomal recessive

Adolescent, Adult, Childhood, Elderly, Infancy

Rippling muscle disease with myasthenia gravis

Not applicable