Mood swings
disease
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
171
1
0.100
None
0
Acidosis, Lactic
phenotype
Nutritional and Metabolic Diseases
Disease or Syndrome
209
21
0.100
None
0
Hypertrichosis
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
92
27
0.100
None
0
Ventricular Septal Defects
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
426
87
0.100
None
0
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
1037
21
0.100
None
0
Failure to Thrive
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
842
10
0.100
None
0
Dysarthria
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Mental or Behavioral Dysfunction
487
54
0.100
None
0
Hypertrophic Cardiomyopathy
disease
Cardiovascular Diseases
Disease or Syndrome
560
635
0.100
None
0
Blepharoptosis
disease
Eye Diseases
Disease or Syndrome
595
57
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
Leukodystrophy
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
190
27
0.100
None
0
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
0
Nystagmus
disease
Eye Diseases; Nervous System Diseases
Disease or Syndrome
833
95
0.100
None
0
Strabismus
disease
Eye Diseases; Nervous System Diseases
Disease or Syndrome
716
89
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
0
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.100
None
0
Retinitis Pigmentosa
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Disease or Syndrome
546
541
0.100
None
0
Respiratory Insufficiency
phenotype
Respiratory Tract Diseases
Pathologic Function
315
15
0.100
None
0
Ptosis
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
607
12
0.100
None
0
Optic Atrophy
disease
Eye Diseases; Nervous System Diseases
Disease or Syndrome
568
51
0.100
None
0
Ophthalmoplegia
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Sign or Symptom
216
12
0.100
None
0
Anemia
disease
Hemic and Lymphatic Diseases
Disease or Syndrome
847
94
0.100
None
0
Hypertensive disease
group
Cardiovascular Diseases
Disease or Syndrome
2322
1085
0.010
None
1.000
1
2016
2016
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
disease
Disease or Syndrome
51
4
0.010
None
1.000
1
2011
2011