C1836542 |
Depressed nasal bridge
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
409 |
C1531647 |
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
disease of anatomical entity
|
|
407 |
C3278923 |
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
407 |
C1840077 |
Anteverted nostril
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
386 |
C0423110 |
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
374 |
C0520947 |
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
disease of mental health
|
|
363 |
C1854301 |
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
|
Abnormality of the nervous system
|
363 |
C0151786 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
|
Abnormality of the musculature
|
326 |
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 |
C0221355 |
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
|
Abnormality of the nervous system
|
304 |
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 |
C0016202 |
Flatfoot
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
|
Abnormality of limbs
|
262 |
C0017168 |
Gastroesophageal reflux disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the digestive system
|
260 |
C0020538 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
260 |
C0027092 |
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
257 |
C0017601 |
Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
255 |
C0338656 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
250 |
C1854114 |
Short nose
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
249 |
C0016842 |
Congenital pectus excavatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
|
242 |