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 |
7 |
C0001080 |
Achondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
1 |
3 |
C0001193 |
Apert syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity; syndrome
|
|
1 |
2 |
C0002066 |
Alkaptonuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism; disease of anatomical entity
|
|
1 |
37 |
C0002395 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
Abnormality of the nervous system
|
3 |
14 |
C0002874 |
Aplastic Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of blood and blood-forming tissues
|
1 |
7 |
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 |
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
|
1 |
0 |
C0002986 |
Fabry Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of the integument; Abnormality of the cardiovascular system
|
1 |
117 |
C0003076 |
Aniridia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the eye
|
1 |
8 |
C0003873 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the skeletal system
|
1 |
1 |
C0004135 |
Ataxia Telangiectasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
30 |
C0004779 |
Basal Cell Nevus Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
Neoplastic Process
|
genetic disease
|
|
2 |
3 |
C0004903 |
Beckwith-Wiedemann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
1 |
4 |
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 |
13 |
C0005283 |
beta Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
4 |
C0005426 |
Biliary Tract Neoplasm
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the digestive system; Neoplasm
|
1 |
3 |
C0005684 |
Malignant neoplasm of urinary bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
3 |
6 |
C0005695 |
Bladder Neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the genitourinary system; Neoplasm
|
2 |
3 |
C0005859 |
Bloom Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
6 |
C0006118 |
Brain Neoplasms
|
group |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the nervous system; Neoplasm
|
1 |
5 |
C0006142 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
579 |
375 |
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
|
2 |
3 |
C0006826 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
disease of cellular proliferation
|
Neoplasm
|
2 |
3 |
C0007102 |
Malignant tumor of colon
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the digestive system; Neoplasm
|
8 |
11 |