C0686353 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of limbs; Abnormality of the musculature
|
31 |
C0543888 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
|
Abnormality of the nervous system
|
30 |
C1260899 |
Anemia, Diamond-Blackfan
|
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
|
29 |
C3463824 |
MYELODYSPLASTIC SYNDROME
|
group |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Neoplasm; Abnormality of blood and blood-forming tissues
|
29 |
C0017919 |
Glycogen Storage Disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
27 |
C0028754 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
disease of metabolism
|
Growth abnormality
|
26 |
C0014544 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the nervous system
|
25 |
C0431399 |
Familial aplasia of the vermis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; syndrome
|
Abnormality of the nervous system
|
25 |
C0158981 |
Neonatal diabetes mellitus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
disease of metabolism
|
|
25 |
C0023465 |
Acute monocytic leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues
|
24 |
C0265219 |
Miller Dieker syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
24 |
C4521256 |
Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
|
|
23 |
C0268731 |
Renal glomerular disease
|
group |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the genitourinary system
|
23 |
C0015625 |
Fanconi Anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
22 |
C0020443 |
Hypercholesterolemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
Abnormality of metabolism/homeostasis
|
22 |
C1838979 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
22 |
C0431350 |
Primary microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
|
|
22 |
C0023264 |
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
21 |
C4551720 |
Primary Ciliary Dyskinesia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease; syndrome
|
|
21 |
C0004352 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
disease of mental health
|
Abnormality of the nervous system
|
20 |
C0030312 |
Pancytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of blood and blood-forming tissues
|
20 |
C0265202 |
Seckel syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity; syndrome; disease of mental health
|
|
20 |
C0003886 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature
|
19 |
C0006267 |
Bronchiectasis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the respiratory system
|
19 |
C0020305 |
Hydrops Fetalis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
|
Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth
|
19 |