C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
1346 |
C0036572 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
disease of anatomical entity
|
Abnormality of the nervous system
|
1192 |
C0013336 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
genetic disease
|
Growth abnormality
|
1038 |
C0349588 |
Short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
1005 |
C2919142 |
Short Stature, CTCAE
|
phenotype |
|
Finding
|
|
|
1005 |
C1858120 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
887 |
C0025958 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
disease of anatomical entity; physical disorder
|
|
855 |
C0036439 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the skeletal system
|
742 |
C0232466 |
Feeding difficulties
|
phenotype |
|
Finding
|
|
Abnormality of the digestive system
|
432 |
C0015934 |
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
|
Growth abnormality
|
431 |
C1849367 |
Nasal bridge wide
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
414 |
C0678230 |
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
|
Abnormality of head or neck
|
394 |
C0344482 |
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
|
Abnormality of the nervous system
|
325 |
C0235946 |
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
|
Abnormality of the nervous system
|
313 |
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 |
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 |
C1865014 |
Long philtrum
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
277 |
C0521525 |
Short neck
|
phenotype |
|
Finding
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
275 |
C0016202 |
Flatfoot
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
|
Abnormality of limbs
|
262 |
C1850049 |
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
260 |
C0017168 |
Gastroesophageal reflux disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the digestive system
|
260 |
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 |
C0013274 |
Patent ductus arteriosus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
219 |
C0086437 |
Joint laxity
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
|
Abnormality of the skeletal system
|
212 |