Asthma
disease
Respiratory Tract Diseases; Immune System Diseases
Disease or Syndrome
2096
1536
0.100
None
1.000
1
1
2015
2015
Respiratory Insufficiency
phenotype
Respiratory Tract Diseases
Pathologic Function
315
15
0.100
None
0
×
CUI:
C0003578
Disease:
Apnea
Apnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
262
11
0.100
None
0
Facial paralysis
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
Disease or Syndrome
182
3
0.100
None
0
Sensorineural Hearing Loss (disorder)
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
783
111
0.100
None
0
Severe intellectual disability
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
429
74
0.100
None
1.000
1
1
2015
2015
Intellectual Disability
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
2165
159
0.100
None
0
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
0
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.100
None
0
Sensory neuropathy
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
116
15
0.100
None
0
Hyporeflexia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
312
0.100
None
0
Hyperreflexia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
539
19
0.100
None
0
Absent reflex
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
201
16
0.100
None
0
Severe muscular hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
75
9
0.100
None
0
Generalized hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
955
164
0.100
None
0
Reduced tendon reflexes
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
121
8
0.100
None
0
Muscle Spasticity
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Sign or Symptom
580
48
0.100
None
0
Muscle Weakness
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Sign or Symptom
536
87
0.100
None
0
Progressive muscle weakness
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Finding
44
15
0.100
None
0
Hip joint varus deformity - observation
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Finding
49
2
0.100
None
0
Visual field constriction
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Finding
57
1
0.100
None
0
Visual Impairment
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Finding
422
0.100
None
0
Hepatomegaly
phenotype
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
Finding
523
30
0.100
None
0
Congenital cataract
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
Congenital Abnormality
105
104
0.100
None
1.000
1
1
2015
2015