R

• Rabies

• Rabson-Mendenhall syndrome

• Radial defect Robin sequence

• Radial hypoplasia, triphalangeal thumbs and hypospadias

• Radial ray agenesis

• Radial ray hypoplasia choanal atresia

• Radiation induced angiosarcoma of the breast

• Radiation induced brachial plexopathy

• Radiation induced cancer

• Radiation induced meningioma

• Radio renal syndrome

• Radio-digito-facial dysplasia

• Radioulnar synostosis-microcephaly-scoliosis syndrome

• Radius absent anogenital anomalies

• Rahman syndrome

• Raine syndrome

• Ramer Ladda syndrome

• Ramon Syndrome

• Ramos Arroyo Clark syndrome

• Rapadilino syndrome

• Rapid-onset dystonia-parkinsonism

• Rapp-Hodgkin syndrome

• Rare lichen planus

• Rasmussen encephalitis

• Rasmussen Johnsen Thomsen syndrome

• Rat bite fever

• Reactive angioendotheliomatosis

• Reactive arthritis

• Reardon Wilson Cavanagh syndrome

• Recessive dystrophic epidermolysis bullosa-generalized other

• Recombinant chromosome 8 syndrome

• Rectal cancer, childhood

• Recurrent hydatidiform mole

• Recurrent peripheral facial palsy

• Recurrent respiratory papillomatosis

• Red cell phospholipid defect with hemolysis

• Red skin pigment anomaly of New Guinea

• Reducing body myopathy

• Reductional transverse limb defects

• Reese retinal dysplasia

• Refractory cytopenia with unilineage dysplasia

• Refsum disease

• Refsum disease with increased pipecolic acidemia

• Refsum disease, infantile form

• Reginato Shiapachasse syndrome

• Relapsing polychondritis

• Renal adysplasia dominant type

• Renal agenesis

• Renal agenesis meningomyelocele mullerian defect

• Renal caliceal diverticuli deafness

• Renal carcinoma, familial

• Renal cell carcinoma

• Renal cell carcinoma 4

• Renal coloboma syndrome

• Renal dysplasia diffuse autosomal recessive

• Renal dysplasia diffuse cystic

• Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

• Renal dysplasia-limb defects syndrome

• Renal genital middle ear anomalies

• Renal glycosuria

• Renal hypomagnesemia 2

• Renal hypomagnesemia-6

• Renal hypouricemia

• Renal medullary carcinoma

• Renal nutcracker syndrome

• Renal oncocytoma

• Renal rickets

• Renal tubular acidosis

• Renal tubular acidosis with deafness

• Renal tubular acidosis, distal

• Renal tubular acidosis, distal, autosomal dominant

• Renal tubular acidosis, distal, autosomal recessive

• Renal tubular acidosis, distal, type 3

• Renal tubular acidosis, distal, type 4

• Renal tubular dysgenesis

• Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA

• Renier Gabreels Jasper syndrome

• Renoanogenital syndrome

• Renoprival hypertension

• Renpenning syndrome 1

• Resistance to LH (luteinizing hormone)

• Respiratory distress syndrome, infant

• Reticular dysgenesis

• Reticuloendotheliosis

• Reticulohistiocytoma

• Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

• Retinal cone dystrophy 1

• Retinal cone dystrophy 2

• Retinal cone dystrophy 3A

• Retinal cone dystrophy 3B

• Retinal cone dystrophy 4

• Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma

• Retinal dysplasia X-linked

• Retinal telangiectasia hypogammaglobulinemia

• Retinal vasculopathy with cerebral leukodystrophy

• Retinis pigmentosa deafness hypogenitalism

• Retinitis pigmentosa

• Retinitis pigmentosa-deafness syndrome

• Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

• Retinoblastoma

• Retinochoroidal coloboma

• Retinohepatoendocrinologic syndrome

• Retinopathy anemia CNS anomalies

• Retinopathy aplastic anemia neurological abnormalities

• Retinopathy of prematurity

• Retinopathy pigmentary mental retardation

• Retinopathy, arteriosclerotic

• Retinoschisis autosomal dominant

• Retinoschisis of Fovea

• Retroperitoneal fibrosis

• Retroperitoneal liposarcoma

• Rett syndrome

• Reversible cerebral vasoconstriction syndrome

• Revesz syndrome

• Reye syndrome

• Reynolds Neri Hermann syndrome

• Reynolds syndrome

• RFT1-CDG (CDG-In)

• Rh deficiency syndrome

• Rhabditida Infections

• Rhabdoid tumor

• Rhabdomyomatous mesenchymal hamartoma

• Rhabdomyosarcoma alveolar

• Rhabdomyosarcoma embryonal

• Rheumatic Fever

• Rheumatoid nodulosis

• Rheumatoid vasculitis

• Rhizomelic chondrodysplasia punctata

• Rhizomelic chondrodysplasia punctata type 1

• Rhizomelic dysplasia Patterson Lowry type

• Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa

• Rhizomelic pseudopolyarthritis

• Rhizomelic syndrome

• RHYNS syndrome

• Ribbing disease

• Riboflavin transporter deficiency

• Richards-Rundle syndrome

• Richieri Costa Da Silva syndrome

• Richieri Costa Orquizas syndrome

• Richieri Costa Pereira syndrome

• Richieri-Costa Colletto Otto syndrome

• Richieri-Costa Guion-Almeida Cohen syndrome

• Richter syndrome

• Rickets

• Rienhoff syndrome

• Right atrium familial dilatation

• Right ventricle hypoplasia

• Rigid spine syndrome

• Ring chromosome 1

• Ring chromosome 10

• Ring chromosome 11

• Ring chromosome 12

• Ring chromosome 13

• Ring chromosome 14

• Ring chromosome 15

• Ring chromosome 16

• Ring chromosome 17

• Ring chromosome 18

• Ring chromosome 19

• Ring chromosome 2

• Ring chromosome 20

• Ring chromosome 21

• Ring chromosome 22

• Ring chromosome 3

• Ring chromosome 4

• Ring chromosome 5

• Ring chromosome 6

• Ring chromosome 7

• Ring chromosome 8

• Ring chromosome 9

• Ring dermoid of cornea

• Ringed hair disease

• Rippling muscle disease

• Rippling muscle disease, 1

• RNAse T2-deficient leukoencephalopathy

• Roberts syndrome

• Robin sequence and oligodactyly

• Robinow syndrome

• Roch-Leri mesosomatous lipomatosis

• Rocky mountain spotted fever

• Rodini Richieri Costa syndrome

• Rodrigues blindness

• ROHHAD

• Roifman syndrome

• Rokitansky sequence

• Rokitansky-Aschoff sinuses of the gallbladder

• Rombo syndrome

• Rommen Mueller Sybert syndrome

• Rosai-Dorfman disease

• Rothmund-Thomson syndrome

• Rotor syndrome

• Roussy Levy syndrome

• Rowley-Rosenberg syndrome

• Roy Maroteaux Kremp syndrome

• Rozin Hertz Goodman syndrome

• RRM2B-related mitochondrial DNA depletion syndrome

• Rubella

• Rubinstein Taybi like syndrome

• Rubinstein-Taybi syndrome

• Rud Syndrome

• Rufous oculocutaneous albinism

• Rumination disorder

• Russell-Silver syndrome

• Rutherfurd syndrome

• Ruvalcaba Churesigaew Myhre syndrome

• Ruvalcaba syndrome

• Ruzicka Goerz Anton syndrome