Medical Conditions — A

42 conditions found

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ABetaA21G amyloidosisE85.8Acquired hemophilia BD68.318Acquired partial lipodystrophyE88.1Acute myeloid leukaemia with myelodysplasia-related featuresC92.8Acute zonal occult outer retinopathyH35.5ACys amyloidosisE85.4Adenylosuccinate lyase deficiencyE79.8Adolescent-onset epilepsy syndromeG40ADULT syndromeQ82.8Adult-onset Steinert myotonic dystrophyG71.1Alar cartilages hypoplasia-coloboma-telecanthus syndromeQ87.0Alexander disease type IG37.8ALG11-CDGE77.8Alkaline ceramidase 3 deficiencyE75.29Alternating hemiplegia of childhoodG25.5Aniridia-cerebellar ataxia-intellectual disability syndromeQ87.8Aniridia-ptosis-intellectual disability-familial obesity syndromeQ87.89Anophthalmia/microphthalmia-esophageal atresia syndromeQ11.2Aprosencephaly/atelencephaly spectrumQ04.2Arterial tortuosity syndromeQ87.89Atypical hemolytic uremic syndromeD59.3Autoimmune disease with skin involvementL12Autoimmune interstitial lung disease-arthritis syndromeM35.9Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiencyD89.89Autosomal dominant Charcot-Marie-Tooth disease type 2NG60.0Autosomal dominant Charcot-Marie-Tooth disease type 2YG60.0Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic painG60.0Autosomal dominant multiple pterygium syndromeQ87.0Autosomal dominant myosin storage myopathyG71.2Autosomal dominant spastic ataxia type 1G11.1Autosomal dominant spastic paraplegia type 29G11.4Autosomal dominant spastic paraplegia type 9BG11.4Autosomal recessive centronuclear myopathyG71.2Autosomal recessive cerebellar ataxia due to STUB1 deficiencyG11.1Autosomal recessive combined immunodeficiency due to complete IL6ST deficiencyD81.9Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosisG70.2Autosomal recessive intermediate Charcot-Marie-Tooth disease type BG60.0Autosomal recessive limb-girdle muscular dystrophy, type 28G71.0Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiencyD81.9Autosomal recessive metabolic cerebellar ataxiaG11.1Autosomal recessive spastic paraplegia type 59G11.4Axenfeld-Rieger syndromeQ87.0