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Results 1 - 10 of 968 for D
  1. Vitamin D-dependent rickets 
    Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition ...
    https://medlineplus.gov/.../condition/vitamin-d-dependent-rickets - Genetics
  2. D-bifunctional protein deficiency 
    D-bifunctional protein deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with D-bifunctional protein deficiency have weak muscle tone (hypotonia) ...
    https://medlineplus.gov/.../d-bifunctional-protein-deficiency - Genetics
  3. CLN10 disease 
    ... provides instructions for making an enzyme called cathepsin D. Cathepsin D is one of a family of cathepsin proteins ... which modify proteins by cutting them apart. Cathepsin D is found in many types of cells and ...
    https://medlineplus.gov/genetics/condition/cln10-disease - Genetics
  4. Mevalonate kinase deficiency 
    ... kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called ... high levels of immune system proteins called immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood. ...
    https://medlineplus.gov/.../condition/mevalonate-kinase-deficiency - Genetics
  5. Alpha-mannosidosis 
    ... show signs and symptoms of the condition. Alpha-D-mannosidosis Alpha-mannosidase B deficiency Alpha-mannosidase deficiency ... alpha-mannosidase Lysosomal alpha B mannosidosis Lysosomal alpha-D-mannosidase deficiency Mannosidosis Genetic Testing Registry: Deficiency of ...
    https://medlineplus.gov/genetics/condition/alpha-mannosidosis - Genetics
  6. Idiopathic infantile hypercalcemia 
    ... the body, a process that can involve vitamin D. When turned on (active), this vitamin stimulates the ... calcium from the intestines into the bloodstream. Vitamin D can be acquired from foods in the diet ...
    https://medlineplus.gov/.../idiopathic-infantile-hypercalcemia - Genetics
  7. Primary hyperoxaluria 
    ... signs and symptoms of the condition. Congenital oxaluria D-glycerate dehydrogenase deficiency Glyceric aciduria Glycolic aciduria Hepatic ... BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC; Rare Kidney Stone Consortium. Phenotype-Genotype ...
    https://medlineplus.gov/genetics/condition/primary-hyperoxaluria - Genetics
  8. Hereditary hypophosphatemic rickets 
    ... experienced hypercalcuria and kidney stones. Hypophosphatemia VDRR Vitamin D-resistant rickets Genetic Testing Registry: Autosomal dominant hypophosphatemic ...
    https://medlineplus.gov/.../hereditary-hypophosphatemic-rickets - Genetics
  9. Omenn syndrome 
    ... Citation on PubMed Cassani B, Poliani PL, Moratto D, Sobacchi C, Marrella V, Imperatori L, Vairo D, Plebani A, Giliani S, Vezzoni P, Facchetti F, ...
    https://medlineplus.gov/genetics/condition/omenn-syndrome - Genetics
  10. Beta-mannosidosis 
    ... show signs and symptoms of the condition. Beta-D-mannosidosis Beta-mannosidase deficiency Lysosomal beta A mannosidosis Lysosomal beta-mannosidase deficiency Genetic Testing Registry: Beta-D-mannosidosis Beta-mannosidosis National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/beta-mannosidosis - Genetics
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