Category:Rare diseases

*

• Rare disease

2

• 2-Hydroxyglutaric aciduria

3

• 3c syndrome

4

• 48, XXXX

5

• 5q- syndrome

A

• Aarskog-Scott syndrome
• Aarskog-Scott syndrome (patient information)
• ABCD syndrome
• Ablepharon macrostomia syndrome
• Achalasia-addisonian syndrome
• Acheiropodia
• Acrocallosal syndrome
• Acromicric dysplasia
• Acute intermittant porphyria
• Acute intermittent porphyria
• Acute lymphoblastic leukemia overview
• Adenylosuccinate lyase deficiency
• Adult-onset Still's disease
• Aicardi-Goutieres syndrome
• Alagille syndrome
• Alagille syndrome associated conditions
• Alagille syndrome laboratory tests
• Alagille syndrome overview
• Alexander disease
• Andersen–Tawil syndrome
• Antley-Bixler syndrome
• AREDYLD
• Atypical teratoid rhabdoid tumor
• Atypical teratoid rhabdoid tumor case study one
• Atypical teratoid rhabdoid tumor classification
• Atypical teratoid rhabdoid tumor cost-effectiveness of therapy
• Atypical teratoid rhabdoid tumor CT
• Atypical teratoid rhabdoid tumor differential diagnosis
• Atypical teratoid rhabdoid tumor echocardiography or ultrasound
• Atypical teratoid rhabdoid tumor epidemiology and demographics
• Atypical teratoid rhabdoid tumor future or investigational therapies
• Atypical teratoid rhabdoid tumor historical perspective
• Atypical teratoid rhabdoid tumor history and symptoms
• Atypical teratoid rhabdoid tumor laboratory findings
• Atypical teratoid rhabdoid tumor medical therapy
• Atypical teratoid rhabdoid tumor MRI
• Atypical teratoid rhabdoid tumor natural history, complications and prognosis
• Atypical teratoid rhabdoid tumor other diagnostic studies
• Atypical teratoid rhabdoid tumor other imaging findings
• Atypical teratoid rhabdoid tumor overview
• Atypical teratoid rhabdoid tumor pathophysiology
• Atypical teratoid rhabdoid tumor physical examination
• Atypical teratoid rhabdoid tumor primary prevention
• Atypical teratoid rhabdoid tumor risk factors
• Atypical teratoid rhabdoid tumor surgery
• Autoimmune polyendocrine syndrome (patient information)

B

• Barraquer-Simons syndrome
• Beta-mannosidosis
• Bietti's crystalline dystrophy
• Biliary atresia
• Biliary atresia (patient information)
• Biliary atresia case study one
• Biliary atresia causes
• Biliary atresia classification
• Biliary atresia cost-effectiveness of therapy
• Biliary atresia CT
• Biliary atresia differential diagnosis
• Biliary atresia echocardiography or ultrasound
• Biliary atresia epidemiology and demographics
• Biliary atresia future or investigational therapies
• Biliary atresia history and symptoms
• Biliary atresia laboratory findings

B cont.

• Biliary atresia medical therapy
• Biliary atresia MRI
• Biliary atresia natural history, complications and prognosis
• Biliary atresia other diagnostic studies
• Biliary atresia other imaging findings
• Biliary atresia overview
• Biliary atresia pathophysiology
• Biliary atresia physical examination
• Biliary atresia prevention
• Biliary atresia surgery
• Birdshot chorioretinopathy
• Blaschko's lines
• Bonnemann-Meinecke-Reich syndrome
• Boomerang dysplasia

C

• Carnosinemia
• Carpenter syndrome
• Catamenial pneumothorax
• Catamenial pneumothorax (patient information)
• Catamenial pneumothorax case study one
• Catamenial pneumothorax causes
• Catamenial pneumothorax chest x ray
• Catamenial pneumothorax classification
• Catamenial pneumothorax cost-effectiveness of therapy
• Catamenial pneumothorax CT
• Catamenial pneumothorax differential diagnosis
• Catamenial pneumothorax epidemiology and demographics
• Catamenial pneumothorax future or investigational therapies
• Catamenial pneumothorax historical perspective
• Catamenial pneumothorax history and symptoms
• Catamenial pneumothorax laboratory findings
• Catamenial pneumothorax medical therapy
• Catamenial pneumothorax MRI
• Catamenial pneumothorax natural history, complications and prognosis
• Catamenial pneumothorax other diagnostic studies
• Catamenial pneumothorax other imaging findings
• Catamenial pneumothorax overview
• Catamenial pneumothorax pathophysiology
• Catamenial pneumothorax physical examination
• Catamenial pneumothorax primary prevention
• Catamenial pneumothorax risk factors
• Catamenial pneumothorax screening
• Catamenial pneumothorax surgery
• Catamenial pneumothorax ultrasound
• Caudal regression syndrome
• Chédiak-Higashi syndrome
• Cholangiocarcinoma
• Cholangiocarcinoma case study one
• Cholangiocarcinoma causes
• Cholangiocarcinoma chest x ray
• Cholangiocarcinoma classification
• Cholangiocarcinoma cost-effectiveness of therapy
• Cholangiocarcinoma CT
• Cholangiocarcinoma differential diagnosis
• Cholangiocarcinoma echocardiography or ultrasound
• Cholangiocarcinoma electrocardiogram
• Cholangiocarcinoma epidemiology and demographics
• Cholangiocarcinoma future or investigational therapies
• Cholangiocarcinoma historical perspective
• Cholangiocarcinoma history and symptoms
• Cholangiocarcinoma laboratory findings
• Cholangiocarcinoma medical therapy
• Cholangiocarcinoma MRI
• Cholangiocarcinoma natural history
• Cholangiocarcinoma other diagnostic studies
• Cholangiocarcinoma other imaging findings
• Cholangiocarcinoma overview
• Cholangiocarcinoma pathophysiology

C cont.

• Cholangiocarcinoma physical examination
• Cholangiocarcinoma primary prevention
• Cholangiocarcinoma risk factors
• Cholangiocarcinoma screening
• Cholangiocarcinoma secondary prevention
• Cholangiocarcinoma staging
• Cholangiocarcinoma surgery
• Cholesteryl ester storage disease
• Choroid plexus tumor
• Congenital chloride diarrhea
• Congenital insensitivity to pain
• Congenital insensitivity to pain with anhidrosis
• Cowden syndrome
• Craniopagus parasiticus
• Cri du chat syndrome
• Currarino syndrome
• Cyclic vomiting syndrome
• Cyclic vomiting syndrome (patient information)
• Cyclic vomiting syndrome case study one
• Cyclic vomiting syndrome causes
• Cyclic vomiting syndrome cost-effectiveness of therapy
• Cyclic vomiting syndrome diagnostic criteria
• Cyclic vomiting syndrome differential diagnosis
• Cyclic vomiting syndrome epidemiology and demographics
• Cyclic vomiting syndrome future or investigational therapies
• Cyclic vomiting syndrome historical perspective
• Cyclic vomiting syndrome history and symptoms
• Cyclic vomiting syndrome laboratory findings
• Cyclic vomiting syndrome medical therapy
• Cyclic vomiting syndrome natural history, complications and prognosis
• Cyclic vomiting syndrome other diagnostic studies
• Cyclic vomiting syndrome overview
• Cyclic vomiting syndrome pathophysiology
• Cyclic vomiting syndrome physical examination
• Cyclic vomiting syndrome primary prevention
• Cyclic vomiting syndrome secondary prevention

D

• Desmosterolosis
• Devic's disease
• Diffuse panbronchiolitis
• Diffuse panbronchiolitis case study one
• Diffuse panbronchiolitis causes
• Diffuse panbronchiolitis chest x ray
• Diffuse panbronchiolitis classification
• Diffuse panbronchiolitis cost-effectiveness of therapy
• Diffuse panbronchiolitis CT
• Diffuse panbronchiolitis differential diagnosis
• Diffuse panbronchiolitis epidemiology and demographics
• Diffuse panbronchiolitis future or investigational therapies
• Diffuse panbronchiolitis historical perspective
• Diffuse panbronchiolitis history and symptoms
• Diffuse panbronchiolitis laboratory findings
• Diffuse panbronchiolitis medical therapy
• Diffuse panbronchiolitis MRI
• Diffuse panbronchiolitis natural history, complications and prognosis
• Diffuse panbronchiolitis other diagnostic studies
• Diffuse panbronchiolitis other imaging findings
• Diffuse panbronchiolitis overview
• Diffuse panbronchiolitis pathophysiology
• Diffuse panbronchiolitis physical examination
• Diffuse panbronchiolitis primary prevention
• Diffuse panbronchiolitis risk factors
• Diffuse panbronchiolitis secondary prevention
• Distichiasis - heart and vasculature anomalies - sinus bradycardia
• Dupuytrens contracture
• Dysgerminoma
• Dysgerminoma (patient information)