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 |
C0000772 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
|
|
3 |
C0001080 |
Achondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
1 |
C0001125 |
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
disease of metabolism
|
Abnormality of metabolism/homeostasis
|
1 |
C0001126 |
Renal tubular acidosis
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
|
2 |
C0001193 |
Apert syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity; syndrome
|
|
1 |
C0001403 |
Addison Disease
|
disease |
Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the endocrine system
|
1 |
C0001623 |
Adrenal gland hypofunction
|
phenotype |
Endocrine System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the endocrine system
|
2 |
C0001627 |
Congenital adrenal hyperplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of the endocrine system
|
1 |
C0001768 |
Agammaglobulinemia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype
|
10 |
C0001815 |
Primary Myelofibrosis
|
disease |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
2 |
C0001824 |
Agranulocytosis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the immune system; Abnormality of blood and blood-forming tissues
|
1 |
C0001916 |
Albinism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
Abnormality of the integument
|
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 |
C0002170 |
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the integument; Abnormality of head or neck
|
4 |
C0002312 |
alpha-Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
2 |
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 |
C0002452 |
Amelogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue
|
10 |
C0002726 |
Amyloidosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
disease of metabolism
|
Abnormality of metabolism/homeostasis
|
4 |
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
|
10 |
C0002768 |
Congenital Pain Insensitivity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
2 |
C0002871 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of blood and blood-forming tissues
|
2 |
C0002874 |
Aplastic Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of blood and blood-forming tissues
|
3 |
C0002876 |
Congenital dyserythropoietic anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of blood and blood-forming tissues
|
4 |
C0002878 |
Anemia, Hemolytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of blood and blood-forming tissues
|
1 |