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Disease Chondrodysplasia Punctata, Rhizomelic

Name Chondrodysplasia Punctata, Rhizomelic
Synonyms Chondrodysplasia Punctata, Rhizomelic Form | Chondrodysplasia Punctatas, Rhizomelic | Punctata, Rhizomelic Chondrodysplasia | Punctatas, Rhizomelic Chondrodysplasia | Rhizomelic Chondrodysplasia Punctata | Rhizomelic Chondrodysplasia Punctatas
Definition An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
Categories Genetic disease (inborn) | Metabolic disease | Musculoskeletal disease
MeSH® ID D018902
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Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases, Developmental Has associated chemicals Has associated genes Osteochondrodysplasias Has associated chemicals Has associated genes Chondrodysplasia Punctata Has associated chemicals Has associated genes Chondrodysplasia Punctata, Rhizomelic Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Peroxisomal Disorders Has associated chemicals Has associated genes Chondrodysplasia Punctata, Rhizomelic Has associated chemicals Has associated genes
3. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Peroxisomal Disorders Has associated chemicals Has associated genes Chondrodysplasia Punctata, Rhizomelic Has associated chemicals Has associated genes

Top ↑ Descendants

Chondrodysplasia Punctata, Rhizomelic Has associated chemicals Has associated genes
  Rhizomelic chondrodysplasia punctata, type 1 Has associated chemicals Has associated genes
  Rhizomelic chondrodysplasia punctata, type 2 Has associated chemicals Has associated genes
  Rhizomelic chondrodysplasia punctata, type 3 Has associated chemicals Has associated genes