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Nume Autosomal Recessive Disease
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Boli A-Z Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of Adducted Thumbs Syndrome Adenine Phosphoribosyltransferase Deficiency Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Aniridia 1 Anorexia Nervosa 1 Aplasia Cutis Congenita Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect Articulation Disorder Aspartylglucosaminuria Ataxia and Polyneuropathy, Adult-Onset Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus Autosomal Genetic Disease Blood Group--Ahonen Blood Group, Dombrock System Blood Group, I System Cerebro-Oculo-Facio-Skeletal Syndrome Citrullinemia, Classic Citrullinemia, Type Ii, Adult-Onset Cockayne Syndrome Cockayne Syndrome B Congenital Chloride Diarrhea Craniosynostosis 1 D-Glyceric Aciduria Diarrhea Dyschromatosis Universalis Hereditaria Dyshormonogenic Goiter Ellis-Van Creveld Syndrome Epidermodysplasia Verruciformis Epidermolysis Bullosa Epilepsy Familial Mediterranean Fever Fibromatosis Glycine Encephalopathy with Normal Serum Glycine Hemoglobin C Disease Hemoglobin E Disease Hemoglobin H Disease Infantile Glycine Encephalopathy Infertility Inner Ear Disease Male Infertility Medullary Sponge Kidney Metabolic Acidosis Mucolipidosis Iii Alpha/beta Mucolipidosis Iii Gamma Neonatal Glycine Encephalopathy Nonphotosensitive Trichothiodystrophy Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to Primary Hyperoxaluria Propionic Acidemia Pycnodysostosis Pyloric Atresia Renal Tubular Acidosis, Distal Renal Tubular Acidosis, Distal, Autosomal Recessive Sensorineural Hearing Loss Spastic Ataxia, Charlevoix-Saguenay Type Tay-Sachs Disease Tetraamelia Syndrome, Autosomal Recessive Trichothiodystrophy 1, Photosensitive Xeroderma Pigmentosum, Complementation Group B Xeroderma Pigmentosum, Complementation Group C Xeroderma Pigmentosum, Complementation Group D Xeroderma Pigmentosum, Variant Type