Additional Disease Briefs
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
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
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
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
Also known as:
alar-nasal cartilages, coloboma of, with telecanthus, coloboma of alar-nasal cartilages with telecanthus, frontonasal dysplasia with alar clefts
Also known as:
ADFN, ALDS, Woolf syndrome, Woolf's syndrome, Ziprkowski–Margolis syndrome, albinism deafness syndrome, albinism-deafness syndrome
Also known as:
alcohol-induced heart muscle disease, alcoholic cardiomyopathy, dilated cardiomyopathy secondary to alcohol
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
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
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