C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
1458 |
C0349588 |
Short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
1122 |
C0013336 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
genetic disease
|
Growth abnormality
|
1039 |
C2919142 |
Short Stature, CTCAE
|
phenotype |
|
Finding
|
|
|
1005 |
C0026827 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
Abnormality of the musculature
|
954 |
C0036439 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the skeletal system
|
773 |
C0015544 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
|
|
734 |
C0004134 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
|
Abnormality of the nervous system
|
609 |
C0020534 |
Orbital separation excessive
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
|
Abnormality of the eye
|
590 |
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
|
551 |
C0428883 |
Diastolic blood pressure
|
phenotype |
|
Clinical Attribute
|
|
|
507 |
C0240635 |
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
|
Abnormality of head or neck
|
496 |
C0004096 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the immune system; Abnormality of the respiratory system
|
446 |
C0008925 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
syndrome; physical disorder
|
|
446 |
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
|
432 |
C1849367 |
Nasal bridge wide
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
429 |
C1854301 |
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
|
Abnormality of the nervous system
|
381 |
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 |
C0151786 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
|
Abnormality of the musculature
|
347 |
C0015672 |
Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
|
Constitutional symptom
|
340 |
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
|
334 |
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
|
320 |
C3806482 |
Recurrent respiratory infections
|
phenotype |
Infections; Respiratory Tract Diseases
|
Finding
|
|
Abnormality of the immune system; Abnormality of the respiratory system
|
318 |
C0002871 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of blood and blood-forming tissues
|
308 |
C0524587 |
Mean Corpuscular Volume (result)
|
phenotype |
|
Laboratory or Test Result
|
|
|
269 |