C0036439 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the skeletal system
|
63 |
92 |
C0027092 |
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
45 |
52 |
C1844820 |
Range of joint movement increased
|
phenotype |
|
Finding
|
|
Abnormality of the skeletal system
|
30 |
46 |
C0151786 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
|
Abnormality of the musculature
|
30 |
42 |
C0241005 |
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
genetic disease; disease of metabolism
|
Abnormality of metabolism/homeostasis
|
23 |
42 |
C0311394 |
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
|
Abnormality of the nervous system; Abnormality of the musculature
|
20 |
30 |
C1836150 |
Gait imbalance
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
20 |
24 |
C0018681 |
Headache
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
|
Abnormality of the nervous system
|
19 |
23 |
C0013404 |
Dyspnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
|
Abnormality of the respiratory system
|
18 |
21 |
C0035410 |
Rhabdomyolysis
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
|
Abnormality of the musculature
|
13 |
14 |
C0042571 |
Vertigo
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
disease of anatomical entity
|
Abnormality of the ear
|
13 |
12 |
C0233794 |
Memory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
disease of mental health
|
Abnormality of the nervous system
|
11 |
13 |
C0003706 |
Arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system; Growth abnormality
|
9 |
24 |
C0030193 |
Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
|
Constitutional symptom
|
9 |
9 |
C0241237 |
Difficulty standing
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
|
Abnormality of the musculature
|
8 |
14 |
C0030554 |
Paresthesia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
|
Abnormality of the nervous system
|
8 |
8 |
C0686353 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of limbs; Abnormality of the musculature
|
7 |
7 |
C0239067 |
Difficulty walking up stairs
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
|
Abnormality of the musculature
|
7 |
7 |
C0231274 |
Intolerant of heat
|
phenotype |
|
Pathologic Function
|
|
Abnormality of metabolism/homeostasis
|
7 |
7 |
C0030252 |
Palpitations
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Finding
|
|
Abnormality of the cardiovascular system
|
6 |
7 |
C0040264 |
Tinnitus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
|
Abnormality of the ear
|
6 |
7 |
C0522055 |
Electrocardiogram abnormal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
|
Abnormality of the cardiovascular system
|
5 |
54 |
C0265221 |
Walker-Warburg congenital muscular dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
5 |
42 |
C4284790 |
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
4 |
14 |
C0240953 |
Winged scapula
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system; Abnormality of the musculature
|
3 |
3 |