C2919142 |
Short Stature, CTCAE
|
phenotype |
|
Finding
|
|
|
1005 |
C0025958 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
disease of anatomical entity; physical disorder
|
|
855 |
C1963184 |
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
|
|
779 |
C4554036 |
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
|
|
779 |
C0015544 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
|
|
734 |
C0033377 |
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
|
|
558 |
C4553743 |
Spasticity, CTCAE
|
phenotype |
|
Finding
|
|
|
476 |
C0008925 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
syndrome; physical disorder
|
|
407 |
C1531647 |
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
disease of anatomical entity
|
|
407 |
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 |
C1861403 |
Variable expressivity
|
phenotype |
|
Finding
|
|
|
319 |
C0151888 |
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
|
|
308 |
C4551915 |
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
|
|
299 |
C0016842 |
Congenital pectus excavatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
|
242 |
C1306503 |
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
disease of anatomical entity; physical disorder
|
|
216 |
C1387005 |
Penis agenesis
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
|
|
205 |
C0024523 |
Malabsorption Syndrome
|
group |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
|
|
175 |
C1963165 |
Malabsorption, CTCAE
|
phenotype |
|
Finding
|
|
|
175 |
C1845977 |
X- linked recessive
|
phenotype |
|
Finding
|
|
|
172 |
C0700201 |
Dyssomnias
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
|
|
167 |
C0851578 |
Sleep Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
|
|
167 |
C1854494 |
Slow progression
|
phenotype |
|
Finding
|
|
|
165 |
C0302511 |
Small for gestational age fetus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
|
|
156 |
C0544886 |
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
|
|
151 |
C0266551 |
Congenital coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
|
144 |