C0349588 |
Short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
1005 |
C2919142 |
Short Stature, CTCAE
|
phenotype |
|
Finding
|
|
|
1005 |
C0037763 |
Spasm
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
|
Abnormality of the nervous system
|
131 |
C0746674 |
Generalized muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
|
Abnormality of the musculature
|
117 |
C4552811 |
Generalized Muscle Weakness, CTCAE
|
phenotype |
|
Finding
|
|
|
117 |
C1861975 |
Cafe au lait spots, multiple
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
|
Abnormality of the integument
|
59 |
C1842774 |
Hypermelanotic macule
|
phenotype |
|
Finding
|
|
Abnormality of the integument
|
57 |
C0016689 |
Freckles
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
|
Abnormality of the integument
|
38 |
C0206160 |
Reticulocytosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
|
Abnormality of blood and blood-forming tissues
|
38 |
C0020461 |
Hyperkalemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
|
Abnormality of metabolism/homeostasis
|
29 |
C0239842 |
Tremor of hands
|
phenotype |
|
Sign or Symptom
|
|
Abnormality of the nervous system
|
23 |
C0272048 |
stomatocytic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
|
|
12 |
C0677598 |
Stomatocytosis Result
|
phenotype |
|
Laboratory or Test Result
|
|
Abnormality of blood and blood-forming tissues
|
12 |
C0302845 |
MCV - raised
|
phenotype |
|
Finding
|
|
Abnormality of blood and blood-forming tissues
|
11 |
C3806178 |
Spotty hypopigmentation
|
phenotype |
|
Finding
|
|
Abnormality of the integument
|
5 |
C1859495 |
Episodic hemolytic anemia
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
|
Abnormality of blood and blood-forming tissues
|
3 |
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
|
496 |
C0020538 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the cardiovascular system
|
260 |
C0349506 |
Photosensitivity of skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Pathologic Function
|
disease of anatomical entity
|
Abnormality of the integument
|
91 |
C0009363 |
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of the eye
|
57 |
C0013336 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
genetic disease
|
Growth abnormality
|
1038 |
C0030443 |
Familial Periodic Paralysis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
6 |
C1279412 |
periodic paralysis (finding)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
Abnormality of the nervous system
|
6 |