C0000744 |
Abetalipoproteinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of metabolism/homeostasis
|
1 |
C0001080 |
Achondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
1 |
C0001193 |
Apert syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity; syndrome
|
|
1 |
C0001206 |
Acromegaly
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the nervous system; Abnormality of the endocrine system
|
2 |
C0001815 |
Primary Myelofibrosis
|
disease |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
4 |
C0002312 |
alpha-Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
2 |
C0002736 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
Abnormality of the nervous system
|
37 |
C0002768 |
Congenital Pain Insensitivity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
5 |
C0002875 |
Cooley's anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C0002893 |
Refractory anemias
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
|
Abnormality of blood and blood-forming tissues
|
1 |
C0002894 |
Refractory anaemia with excess blasts
|
disease |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
|
|
1 |
C0002895 |
Anemia, Sickle Cell
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C0002902 |
Anencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
disease of anatomical entity; physical disorder
|
Abnormality of the nervous system
|
2 |
C0003076 |
Aniridia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the eye
|
3 |
C0003499 |
Supravalvular aortic stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
1 |
C0003803 |
Arnold Chiari Malformation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
|
Abnormality of the nervous system
|
1 |
C0003810 |
Sertoli-Leydig cell tumor of ovary
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Neoplastic Process
|
|
|
1 |
C0004779 |
Basal Cell Nevus Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
Neoplastic Process
|
genetic disease
|
|
3 |
C0004943 |
Behcet Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
14 |
C0005129 |
Bernard-Soulier Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
3 |
C0005138 |
Berylliosis
|
disease |
Respiratory Tract Diseases; Occupational Diseases
|
Injury or Poisoning
|
disease of anatomical entity
|
|
1 |
C0005411 |
Biliary Atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the digestive system
|
1 |
C0005689 |
Bladder Exstrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
disease of anatomical entity; physical disorder
|
Abnormality of the digestive system; Abnormality of the genitourinary system
|
2 |
C0006413 |
Burkitt Lymphoma
|
disease |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Neoplasm; Abnormality of blood and blood-forming tissues
|
22 |
C0006845 |
Candidiasis, Chronic Mucocutaneous
|
disease |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
disease of anatomical entity; disease by infectious agent
|
Abnormality of the integument; Abnormality of the immune system
|
5 |