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Disease Index

9,486 diseases

ABri amyloidosis

Abruzzo–Erickson syndrome

absence deformity of leg-cataract syndrome

medical condition

absence of fingerprints-congenital milia syndrome

absence of innominate vein

absence of the pulmonary artery

Absent radius-anogenital anomalies syndrome

absent thumb-short stature-immunodeficiency syndrome

absent tibia-polydactyly syndrome

medical condition

absent tibia-polydactyly-arachnoid cyst syndrome

Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia

Acanthamoeba keratitis

acanthokeratolytic verrucous nevus

acanthosis nigricans

acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome

This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy

ICD: E80.3MeSH: D020642

accessory breast

accessory mitral valve tissue

accessory pancreas

congenital disorder of digestive system

ICD: Q45.3MeSH: C536003

accessory tricuspid valve tissue

arterial calcification due to deficiency of CD73, rare genetic disorder that causes calcium buildup in the arteries and joints of the hands and feet, and other areas below the waist

aceruloplasminemia

adult-onset disorder of neurodegeneration with brain iron accumulation

ICD: E83.1MeSH: C536004

acetazolamide-responsive myotonia

Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)

achalasia microcephaly syndrome

acheiria, bilateral

acheiria, unilateral

ICD: Q74.8MeSH: C536014

achondrogenesis

ICD: Q77.0MeSH: C579878

achondrogenesis type IA

achondrogenesis that results in abnormal ossification of the located in vertebral column or located in spine

Page 6 of 317 (9,486 total)

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