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Nume
Aminoaciduria
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3-Methylcrotonyl-Coa Carboxylase Deficiency
Acute Kidney Tubular Necrosis
Adrenoleukodystrophy
Angina Pectoris
Aniridia 1
Anorexia Nervosa 1
Ataxia and Polyneuropathy, Adult-Onset
Ataxia-Oculomotor Apraxia 3
Ayme-Gripp Syndrome
Blood Group--Ahonen
Blood Group, I System
Bone Mineral Density Quantitative Trait Locus 15
Bone Mineral Density Quantitative Trait Locus 8
Bowen-Conradi Syndrome
Brittle Bone Disorder
Candidiasis
Cataract
Cholestasis
Chronic Mucocutaneous Candidiasis
Cohen-Gibson Syndrome
Corneal Dystrophy
Cryoglobulinemia
Cystinosis
Cystinuria
Dent Disease 1
Dermatitis
Diabetes Insipidus
Diaminopentanuria
Dicarboxylic Aminoaciduria
Dwarfism
Encephalopathy
Epilepsy
Fanconi Syndrome
Fibrosis of Extraocular Muscles, Congenital, 1
Glomerulonephritis
Hepatitis
Homocystinuria
Hyperbetaalaninemia
Hyper-Beta-Alaninemia
Hyper Ige Syndrome
Hyperostosis
Hyperparathyroidism
Hyperprolinemia
Hypoascorbemia
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
Hypophosphatemia
Hypophosphatemic Rickets, X-Linked Recessive
Hypotonia-Cystinuria Syndrome
Ichthyosis
Iminoglycinuria
Keratosis
Kwashiorkor
Lactic Acidosis
Lipoid Nephrosis
Lowe Oculocerebrorenal Syndrome
Lymphoma
Macroglobulinemia
Maple Syrup Urine Disease
Marden-Walker Syndrome
Marfan Syndrome
Monogenic Diabetes
Multiple Sulfatase Deficiency
Muscular Dystrophy
Myopathy
Myotonia
Nephrocalcinosis
Nephrolithiasis
Nephrotic Syndrome
Pancreatitis
Peeling Skin Syndrome
Phenylketonuria
Pitt-Hopkins Syndrome
Polydactyly
Primary Fanconi Syndrome
Renal Glucosuria
Renal Tubular Acidosis
Rickets
Seborrheic Dermatitis
Sideroblastic Anemia
Three M Syndrome 1
Thyroiditis
Tryptophanuria with Dwarfism
Wilson Disease
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