Rare Disease Library

Abnormal origin of the pulmonary artery

ABri amyloidosis

Familial dementia, British type

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Absence deformity of leg-cataract syndrome

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

Absence of innominate vein

Absence of brachiocephalic vein

Absence of the pulmonary artery

Unilateral Pulmonary Artery Absence · Aplasia of pulmonary artery

Absence of uterine body

Absent radius-anogenital anomalies syndrome

Absent thumb-short stature-immunodeficiency syndrome

Absent tibia-polydactyly-arachnoid cyst syndrome

Holmes-Collins syndrome

Acalvaria

Primary acalvaria

Acanthokeratolytic verrucous nevus

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

Acatalasemia

Catalase deficiency

Accessory mitral valve tissue

Accessory pancreas

Accessory tricuspid valve tissue

Aceruloplasminemia

Hereditary ceruloplasmin deficiency

Acetazolamide-responsive myotonia

ACZ-responsive congenital myotonia · ACZ-responsive myotonia

Achalasia-alacrimia syndrome

Achalasia-microcephaly syndrome

Achondrogenesis

Achondrogenesis type 1A

Achondrogenesis, Houston-Harris type

Achondrogenesis type 1B

Achondrogenesis, Parenti-Fraccaro type

Achondrogenesis type 2

Achondrogenesis, Langer-Saldino type

Achondroplasia

Achromatopsia

ACHM · Complete or incomplete color blindness

Acid sphingomyelinase deficiency

ASMD

Acinar cell carcinoma of pancreas

Pancreatic acinar cell carcinoma

Acinar cystic transformation of the pancreas

Pancreatic acinar cystic transformation · Acinar cell cystadnoma

Acitretin/etretinate embryopathy

Fetal acitretin/etretinate syndrome · Retinoid embryopathy

Acquired amyloid peripheral neuropathy

Acquired aneurysmal subarachnoid hemorrhage

Acquired angioedema

AAE · Acquired C1 inhibitor deficiency

Acquired angioedema type 1

Acquired angioneurotic edema type 1

Acquired angioedema type 2

AAE 2 · AAE II

Acquired angioedema with C1Inh deficiency

Acquired angioneurotic edema with C1 inhibitor deficiency · Acquired angioneurotic edema with C1Inh deficiency

Acquired arginine vasopressin deficiency

Acquired CDI · Acquired neurogenic diabetes insipidus

Acquired ataxia

Acquired chronic primary adrenal insufficiency

Acquired Creutzfeldt-Jakob disease

Acquired cutis laxa

Cutis laxa acquisita

Acquired cystic disease-associated renal cell carcinoma

Kidney cancer · RCC

Acquired dermis elastic tissue disorder

Acquired dermis elastic tissue disorder with decreased elastic tissue

Acquired dermis elastic tissue disorder with increased elastic tissue

Acquired elastotic haemangioma