C0038002 |
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
|
Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system
|
320 |
C1861403 |
Variable expressivity
|
phenotype |
|
Finding
|
|
|
319 |
C0013421 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
disease of anatomical entity
|
Abnormality of the nervous system
|
315 |
C0028754 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
disease of metabolism
|
Growth abnormality
|
315 |
C3806482 |
Recurrent respiratory infections
|
phenotype |
Infections; Respiratory Tract Diseases
|
Finding
|
|
Abnormality of the immune system; Abnormality of the respiratory system
|
314 |
C0235946 |
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
|
Abnormality of the nervous system
|
313 |
C0151888 |
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
|
308 |
C0221354 |
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
306 |
C0036857 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
genetic disease; disease of mental health
|
Abnormality of the nervous system
|
306 |
C0221355 |
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
|
Abnormality of the nervous system
|
304 |
C0011581 |
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
disease of mental health
|
Abnormality of the nervous system
|
300 |
C0002871 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of blood and blood-forming tissues
|
299 |
C1836830 |
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
|
Abnormality of the nervous system
|
299 |
C0575081 |
Gait abnormality
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the nervous system
|
299 |
C4551915 |
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
|
|
299 |
C0541794 |
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
|
Abnormality of the musculature
|
299 |
C0011168 |
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
|
Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck
|
296 |
C2674608 |
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
|
Abnormality of the digestive system
|
295 |
C0035229 |
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
|
Abnormality of the respiratory system
|
295 |
C0541764 |
Delayed bone age
|
phenotype |
|
Finding
|
|
Abnormality of the skeletal system
|
291 |
C0018818 |
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
290 |
C0221357 |
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
285 |
C0020255 |
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the nervous system
|
282 |
C1865014 |
Long philtrum
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
277 |
C0018777 |
Conductive hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
|
Abnormality of the ear
|
275 |