Additional Disease Briefs

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Alagille syndrome due to 20p12 microdeletion

Also known as: Alagille syndrome due to del(20)(p12), Alagille syndrome due to monosomy 20p12, Alagille-Watson syndrome due to monosomy 20p12, Arteriohepatic dysplasia due to monosomy 20p12, syndromic bile duct paucity due to monosomy 20p12


Alagille syndrome due to a JAG1 point mutation

Also known as: ALGS1, Alagille syndrome 1, Alagille syndrome due to a JAG1 point mutation, Alagille syndrome type 1, Alagille-Watson syndrome, Alagille-Watson syndrome due to a JAG1 point mutation, arteriohepatic dysplasia, arteriohepatic dysplasia due to a JAG1 point mutation, cholestasis with peripheral pulmonary stenosis, hepatic ductular hypoplasia, syndromatic, syndromic bile duct paucity due to a JAG1 point mutation


Alagille syndrome due to a NOTCH2 point mutation

Also known as: ALGS2, Alagille syndrome 2, Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome type 2, Alagille-Watson syndrome due to a NOTCH2 point mutation, Arteriohepatic dysplasia due to a NOTCH2 point mutation, syndromic bile duct paucity due to a NOTCH2 point mutation


Aland island eye disease

Also known as: AIED, ALAND ISLAND eye disease, Aland island eye disease, FORSIUS-Eriksson type ocular albinism, Forsius Eriksson type ocular albinism, Forsius-Eriksson syndrome, Forsius-Eriksson type ocular albinism, Åland Islands eye disease



albinism-hearing loss syndrome

Also known as: ADFN, ALDS, Woolf syndrome, Woolf's syndrome, Ziprkowski–Margolis syndrome, albinism deafness syndrome, albinism-deafness syndrome


alcoholic cardiomyopathy

Also known as: alcohol-induced heart muscle disease, alcoholic cardiomyopathy, dilated cardiomyopathy secondary to alcohol


ALDH18A1-related de Barsy syndrome

Also known as: ARCL3A, De Barsy syndrome A, De Barsy syndrome a, Delta-1-pyrroline 5-carboxylate synthetase deficiency, P5CS deficiency, autosomal recessive cutis laxa type IIIA, cutis laxa, autosomal recessive, type 3A, cutis laxa, autosomal recessive, type IIIA, cutis laxa, corneal clouding, and intellectual disability, cutis laxa, corneal clouding, and mental retardation, neurocutaneous syndrome, Bicknell type, progeroid syndrome of De Barsy


aldosterone-producing adenoma with seizures and neurological abnormalities

Also known as: APA with seizures and neurological abnormalities, Conn adenoma, Conn adenoma with seizures and neurological abnormalities, PASNA, aldosterone-secreting adenoma, aldosterone-secreting adenoma with seizures and neurological abnormalities, aldosteronoma, complex neurodevelopmental disorder with or without aldosteronism, primary aldosteronism due to Conn adenoma, primary aldosteronism, seizures, and neurologic abnormalities


aldosterone-producing adrenal cortex adenoma

Also known as: APAC, Pure APAC, Pure aldosterone-producing adrenocortical carcinoma, Pure aldosterone-secreting adrenocortical carcinoma, adrenocortical carcinoma with pure aldosterone hypersecretion, aldosterone producing adrenal cortex adenoma, aldosterone producing adrenal cortical adenoma, aldosterone-producing adrenal cortex adenoma