C3714756 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
disease of mental health
|
Abnormality of the nervous system
|
323 |
C0015397 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
211 |
C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
133 |
C0036572 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
disease of anatomical entity
|
Abnormality of the nervous system
|
120 |
C0152427 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
physical disorder
|
Abnormality of limbs; Abnormality of the skeletal system
|
112 |
C4277690 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
|
|
109 |
C1384666 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the ear
|
84 |
C0035334 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
78 |
C0878659 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
|
Growth abnormality
|
77 |
C0013421 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
disease of anatomical entity
|
Abnormality of the nervous system
|
73 |
C0878544 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
66 |
C4707243 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
53 |
C0008925 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
syndrome; physical disorder
|
|
44 |
C0751651 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
43 |
C3495676 |
Anorectal Malformations
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
disease of anatomical entity
|
Abnormality of the digestive system
|
41 |
C0494261 |
Combined immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the immune system
|
41 |
C0152423 |
Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
|
Abnormality of the ear
|
40 |
C0598589 |
Inherited neuropathies
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
|
|
40 |
C0025958 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
disease of anatomical entity; physical disorder
|
|
38 |
C0424605 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
|
|
37 |
C3860213 |
Autoinflammatory disorder
|
disease |
|
Disease or Syndrome
|
|
|
35 |
C4228778 |
Abnormality of radial ray
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
33 |
C0272242 |
Complement deficiency disease
|
group |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the immune system
|
33 |
C0023467 |
Leukemia, Myelocytic, Acute
|
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
|
33 |
C0024115 |
Lung diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the respiratory system
|
32 |