You searched for R - NORD (National Organization for Rare Disorders)

Search Results for: R

0-9• A• B• C• D• E• F• G• H• I• J• K• L• M• N• O• P• Q• R• S• T• U• V• W• X• Y• Z

Radiation Sickness

Also known as: Radiation Disease, Radiation Effects, Radiation Illness, Radiation Injuries, Radiation Reaction, Radiation Syndrome

Subdivisions: acute radiation sickness, delayed radiation sickness

Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation

Also known as: late onset central hypoventilation syndrome with hypothalamic dysfunction, LO-CCHS/HD, regulation with neural tumor, ROHHAD

Subdivisions: ROHHADNET

Rasmussen Encephalitis

Also known as: chronic encephalitis and epilepsy, chronic localized (focal) encephalitis, epilepsy, hemiplegia and intellectual disabilities, Rasmussen syndrome (RE)

Reactive Arthritis

Also known as: Fiessinger-Leroy disease, Reiter's syndrome

Recessive Multiple Epiphyseal Dysplasia

Also known as: EDM4, MED4, Multiple Epiphyseal Dysplasia Type 4, Multiple Epiphyseal Dysplasia with Clubfoot, rMED

Subdivisions: No subdivisions found

Recurrent Respiratory Papillomatosis

Also known as: juvenile-onset laryngeal papillomatosis, laryngeal papillomatosis

Subdivisions: adult onset recurrent respiratory papillomatosis (AORRP), juvenile onset recurrent respiratory papillomatosis (JORRP)

Refractory Celiac Disease

Also known as: intractable celiac sprue, refractory celiac disease

Subdivisions: type II refractory sprue, type I refractory sprue

Also known as: disorder of cornification 11 (phytanic acid type), DOC 11 (phytanic acid type), heredopathia atactica polyneuritiformis, hereditary sensory and motor neuropathy type 4 (HMSN 4) , hypertrophic neuropathy of Refsum, phytanic acid storage disease , phytanic acid oxidase deficiency , adult Refsum disease , classic Refsum disease

Relapsing Polychondritis

Also known as: chronic atrophic polychondritis, generalized or systemic chondromalocia, Meyenburg-Altherr-Uehlinger syndrome, relapsing perichondritis, von Meyenburg disease

Renal Agenesis, Bilateral

Also known as: Kidney Agenesis, Renal Agenesis

Renal Cell Carcinoma

Also known as: Grawitz Tumor, Hypernephroma, Nephrocarcinoma, RCC, Renal Adenocarcinoma

Renal Glycosuria

Also known as: benign glycosuria, familial renal glycosuria, nondiabetic glycosuria, primary renal glycosuria, renal glucosuria

Subdivisions: renal glycosuria, type A, renal glycosuria, type B, renal glycosuria, type O

Renal Medullary Carcinoma

Also known as: RMC, medullary carcinoma of the kidney, kidney medullary carcinoma, renal cell carcinoma, unclassified, with medullary phenotype, RCCU-MP

Respiratory Distress Syndrome, Infant

Also known as: Hyaline Membrane Disease, Infantile Respiratory Distress Syndrome, IRDS

Subdivisions: surfactant protein-B deficiency

Restless Legs Syndrome

Also known as: Willis-Ekbom disease

Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations

Also known as: RVCL-S, cerebroretinal vasculopathy (CRV), hereditary endotheliopathy, retinopathy, nephropathy and stroke (HERNS), hereditary vascular retinopathy (HVR), hereditary systemic angiopathy (HSA), retinal vasculopathy with cerebral leukodystrophy (RVCL), TREX1 vasculopathy

Retinitis Pigmentosa

Also known as: progressive pigmentary retinopathy, rod-cone dystrophy, RP

Retinoblastoma

Retinopathy of Prematurity

Also known as: retrolental fibroplasia (obsolete), ROP

Retinoschisis

Also known as: Congenital Retinal Cyst, Congenital Vascular Veils in the Retina, Giant Cyst of the Retina, Vitreoretinal Dystrophy

Subdivisions: Blessig Cysts, Congenital Retinoschisis, Familial Foveal Retinoschisis, Iwanoff Cysts, Peripheral Cystoid Degeneration of the Retina, Retinoschisis, Juvenile, Retinoschisis, Senile, Retinoschisis, Typical

Retroperitoneal Fibrosis

Also known as: Idiopathic Retroperitoneal Fibrosis, Ormond's Disease

Rett Syndrome

Also known as: classic Rett syndrome, RTT, variant (atypical) Rett syndrome

Reye Syndrome

Also known as: fatty liver with encephalopathy, Reye's syndrome, RS

Rheumatic Fever

Also known as: Acute Rheumatic Fever, Inflammatory Rheumatism, Rheumatic Arthritis

Riboflavin Transporter Deficiency

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

Subdivisions: riboflavin transporter deficiency type 1, riboflavin transporter deficiency type 2, riboflavin transporter deficiency type 3, SLC52A2-related disorders, SLC52A3-related disorders

Ring Chromosome 4

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

Roberts Syndrome

Also known as: hypomelia-hypotrichosis-facial hemangioma syndrome, pseudothalidomide syndrome, SC syndrome

Subdivisions: phocomelia

Robinow Syndrome

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

Subdivisions: autosomal recessive Robinow syndrome, autosomal dominant Robinow syndrome

Rocky Mountain Spotted Fever

Also known as: RMSF, Sao Paulo Typhus, Tickborne Typhus Fever

Subdivisions: Fulminant Rocky Mountain Spotted 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

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

RYR1-Related Diseases

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

Rare Disease Database

Search Results for: R

Alone we are rare. Together we are strong.®