Rare Disease Library

Acute tricyclic antidepressant poisoning

ACys amyloidosis

CST3-related amyloidosis · Cystatin amyloidosis

ADan amyloidosis

Familial dementia, Danish type

Adenoid ameloblastoma

AA

Adenoid basal carcinoma of the cervix uteri

Cervical adenoid basal carcinoma

Adenoid cystic carcinoma of the cervix uteri

Cervical adenoid cystic carcinoma

Adenomatoid tumour of the peritoneum

Adenomatoid tumour of the pleura

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

ALSP · Autosomal dominant leukoencephalopathy with neuroaxonal spheroids

AFib amyloidosis

Familial amyloid nephropathy due to fibrinogen A alpha-chain variant · Fibrinogen A alpha-chain amyloidosis

AGel amyloidosis

Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type

AH amyloidosis

Heavy chain amyloidosis

AL amyloidosis

Light-chain amyloidosis

Alagille syndrome due to a JAG1 point mutation

Alagille-Watson syndrome due to a JAG1 point mutation · Arteriohepatic dysplasia due to a JAG1 point mutation

Alagille syndrome due to a NOTCH2 point mutation

Alagille-Watson syndrome due to a NOTCH2 point mutation · Arteriohepatic dysplasia due to a NOTCH2 point mutation

ALECT2 amyloidosis

Leukocyte chemotactic factor-2 amyloidosis

ALys amyloidosis

Familial amyloid nephropathy due to lysozyme variant · Familial renal amyloidosis due to lysozyme variant

Amyloidosis

Amyloidosis cutis dyschromia

Amyloidosis cutis dyschromica

Anaplastic thyroid carcinoma

Angelman syndrome due to a point mutation

Angioimmunoblastic T-cell lymphoma

AILT · Immunoblastic lymphadenopathy

Angiomatoid fibrous histiocytoma

AFH

Anti-p200 pemphigoid

Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis

Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome

Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis

Aortic dilatation-joint hypermobility-arterial tortuosity syndrome

Apparent mineralocorticoid excess

11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome

Arachnoid cyst

Arachnoiditis

Adhesive arachnoiditis · Chronic arachnoiditis

Ataxia-hypogonadism-choroidal dystrophy syndrome

Boucher-Neuhäuser syndrome

ATTRV122I amyloidosis

ATTRV122I-related amyloidosis

ATTRV30M amyloidosis

ATTRV30M-related amyloidosis · Hereditary ATTRV30M-related amyloidosis

Atypical chronic myeloid leukemia

Subacute myeloid leukemia

Atypical papilloma of choroid plexus

Atypical choroid plexus papilloma · Atypical CPP

Atypical teratoid rhabdoid tumor

ATRT

Autoimmune bullous skin disease

Autoimmune disease with skin involvement

Autoimmune encephalitis

AE · AIE

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea

Anti-IgLON5 syndrome · Anti-IgLON5 disease

Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency

Evans syndrome associated with primary immunodeficiency · TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease

Autoimmune hemolytic anemia, cold type

Cold AIHA · cAHA

Autoimmune hemolytic anemia, warm type

Warm AIHA · wAHA

Autoimmune heparin-induced thrombocytopenia

Autoimmune HIT · aHIT

Autoimmune hepatitis

AIH

Autoimmune hepatitis type 1

AIH type 1

Autoimmune hepatitis type 2

AIH type 2

Autoimmune hypoparathyroidism