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Results 1 - 10 of 10 for rhizomelic
  1. Rhizomelic chondrodysplasia punctata 
    Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal ...
    https://medlineplus.gov/.../rhizomelic-chondrodysplasia-punctata - Genetics
  2. PEX7 gene 
    ... the PEX7 gene have been found to cause rhizomelic chondrodysplasia punctata type 1 (RCDP1). These mutations tend ... Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with ...
    https://medlineplus.gov/genetics/gene/pex7 - Genetics
  3. GNPAT gene 
    ... the GNPAT gene have been found to cause rhizomelic chondrodysplasia punctata type 2 (RCDP2). These mutations prevent ... cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. Hum Mol Genet. 1998 ...
    https://medlineplus.gov/genetics/gene/gnpat - Genetics
  4. Achondroplasia: About the Disease From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Dwarfism/Start Here ... Dwarfism ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find symptoms and other information about ...
    https://rarediseases.info.nih.gov/diseases/8173/achondroplasia - External Health Links
  5. AGPS gene 
    ... the AGPS gene have been found to cause rhizomelic chondrodysplasia punctata type 3 (RCDP3). These mutations change ...
    https://medlineplus.gov/genetics/gene/agps - Genetics
  6. Bone Diseases (National Library of Medicine)  
    Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and ...
    https://medlineplus.gov/bonediseases.html - Health Topics
  7. Lipid Metabolism Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/lipidmetabolismdisorders.html - Health Topics
  8. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... Pendred syndrome Phenylketonuria Primary hyperoxaluria Pyruvate kinase deficiency Rhizomelic chondrodysplasia punctata Sialic acid storage disease , including Salla ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  9. Dwarfism (Nemours Foundation)  
    Dwarfism/Teenagers ... Dwarfism ... Nemours Foundation ... dwarf, dwarfs, short-statured, short stature, little person, short, achrondroplasia, diastrophic, spondyloepiphyseal, ...
    https://kidshealth.org/en/teens/dwarfism.html - External Health Links
  10. Dwarfism (For Parents) (Nemours Foundation)  
    Dwarfism/Start Here ... Dwarfism ... Dwarfism/Children ... Dwarfism ... Nemours Foundation ... dwarfism, cartilage-hair hypoplasia, hypochondroplasia, pseudoachondroplasia, campomelic ...
    https://kidshealth.org/en/parents/dwarfism.html - External Health Links