Rare Disease Library

Acute panmyelosis with myelofibrosis

Acute myelodysplasia with myelofibrosis · Acute myelofibrosis

Acute peripheral arterial occlusion

Acute poisoning by drugs with membrane-stabilizing effect

Acute promyelocytic leukemia

AML M3 · AML with t(15;17)(q22;q12);(PML/RARalpha) and variants

Acute pure sensory neuropathy

Acute pure sensory GBS · Acute pure sensory Guillain-Barré syndrome

Acute radiation syndrome

Acute radiation sickness

Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate

Acute reversible leukoencephalopathy due to SLC13A3 deficiency · Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency

Acute sensory ataxic neuropathy

ASAN · Acute sensory ataxic GBS

Acute transverse myelitis

Acute transverse myelitis with anti-MOG antibodies

Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies

Acute tricyclic antidepressant poisoning

Acute undifferentiated leukemia

Acute myeloid leukemia, minimal differentiation, FAB M0

Acute zonal occult outer retinopathy

AZOOR

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

Acyl-CoA dehydrogenase deficiency

ACys amyloidosis

CST3-related amyloidosis · Cystatin amyloidosis

Adamantinoma

Adamantinoma of long bones

Adams-Oliver syndrome

AOS · Congenital scalp defects with distal limb anomalies

ADan amyloidosis

Familial dementia, Danish type

Addison disease

Primary Addison disease · Autoimmune adrenalitis

Adducted thumbs-arthrogryposis syndrome, Christian type

Adenine phosphoribosyltransferase deficiency

2,8-dihydroxyadenine urolithiasis · APRT deficiency

Adenocarcinoma of ovary

Ovarian adenocarcinoma

Adenocarcinoma of the anal canal

Adenocarcinoma of the cervix uteri

Cervical adenocarcinoma

Adenocarcinoma of the gallbladder and extrahepatic biliary tract

Adenocarcinoma of the gallbladder and EBT

Adenocarcinoma of the liver and intrahepatic biliary tract

Adenocarcinoma of the liver and IBT

Adenocarcinoma of the oesophagus and oesophagogastric junction

Adenocarcinoma of the esophagus and the gastroesophageal junction · Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction

Adenocarcinoma of the penis

Penile adenocarcinoma

Adenocarcinoma of the small intestine

Adenocarcinoma of the small bowel

Adenohypophysitis

Anterior pituitary hypophysitis

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

Adenoma of pancreas

Pancreatic adenoma

Adenomatoid tumour of the peritoneum

Adenomatoid tumour of the pleura

Adenosarcoma of the cervix uteri

Cervical adenosarcoma

Adenosarcoma of the corpus uteri

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

Adenovirus infection in immunocompromised patients

Adenylosuccinate lyase deficiency

ADSL deficiency · Adenylosuccinase deficiency

Adenylosuccinate synthetase-like 1-related distal myopathy

ADSSL1-related distal myopathy

Adermatopathic dermatomyositis

Dermatomyositis sine dermatitis

Adiposis dolorosa

Adiposalgia · Adipose tissue rheumatism

ADNP-related blepharophimosis-intellectual disability syndrome

Adolescent-onset epilepsy syndrome

Adrenal Cushing syndrome

Adrenal CS