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The National Information Centre for Metabolic Diseases

 

 

 

 

 

 

Metabolic Diseases

 

'R'

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Disease

 

Also Known as
  Rabson-Mendenhall Syndrome Mendenhall Syndrome

 

Reductase Deficiency (5 Alpha)

5-ARD

 

Reductase Deficiency (5 Beta)

5β-Reductase Deficiency

 

Reflex Sympathetic Dystrophy Syndrome

Algoneurodystrophy
  Refsum Disease Phytanic Acid Storage Disease

 

Refsum Disease – Infantile                        

IRD

 

Reifenstein Syndrome

Gilbert-Dreyfus Syndrome

 

Renal Tubular Acidosis

RTA

 

Resistance to Thyroid Hormone

RTH

 

Rett Syndrome

RTT

 

Reye Syndrome

RS

 

Rhizomelic Chondrodysplasia Punctata

RCP

 

Rieger Syndrome

Gondiodysgenesis-Hypodontia

 

Rothmund-Thompson Syndrome

RTS

 

Rotor Syndrome

Hyperbilirubinemia, Rotor Type
  Roussy-Levy Syndrome Charcot-Marie-Tooth Disease – Variant

 

Rud Syndrome

Ichthyosis-Male Hypogonadism Syndrome

 

Russell Silver Syndrome

RSS

 

Ruvalcaba Syndrome

Mental Retardation-Osteodystrophy, Ruvalcaba Type