Abnormal choroid morphology
disease
Anatomical Abnormality
12
1
0.100
None
0
1
Posterior subcapsular cataract
disease
Eye Diseases
Disease or Syndrome
67
9
0.100
None
0
Electromyogram abnormal
phenotype
Finding
130
12
0.100
None
0
Subcapsular cataract
disease
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Acquired Abnormality
17
1
0.100
None
0
Aminoaciduria
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
68
1
0.100
None
0
Myopia
disease
Eye Diseases
Disease or Syndrome
490
167
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
Proximal muscle weakness
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Finding
112
11
0.100
None
0
Nyctalopia
disease
Eye Diseases
Disease or Syndrome
168
18
0.100
None
0
Optic Atrophy
disease
Eye Diseases; Nervous System Diseases
Disease or Syndrome
568
51
0.100
None
0
1
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.100
None
0
×
CUI:
C0030193
Disease:
Pain
Pain
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1554
196
0.100
None
0
1
Abnormal macular morphology
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Anatomical Abnormality
30
3
0.100
None
0
Progressive visual loss
phenotype
Finding
77
11
0.100
None
0
GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA
disease
Finding
1
2
0.100
None
0
2
Abnormality of metabolism/homeostasis
phenotype
Finding
171
5
0.100
None
0
Visual field defects
group
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Finding
47
1
0.100
None
0
1
hearing impairment
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
740
337
0.100
None
0
Chorioretinal hyperpigmentation
phenotype
Finding
1
0.100
None
0
Progressive night blindness
phenotype
Eye Diseases
Finding
87
3
0.100
None
0
Cardiac Arrest
disease
Cardiovascular Diseases
Disease or Syndrome
411
50
0.010
None
1.000
1
1985
1985
Anemia, Sickle Cell
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
Disease or Syndrome
434
138
0.010
None
1.000
1
1985
1985
X-linked retinitis pigmentosa
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Congenital Abnormality
29
7
0.010
None
1.000
1
1988
1988
Lysinuric Protein Intolerance
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome
21
47
0.010
None
1.000
1
1989
1989
HHH syndrome
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
8
21
0.010
None
1.000
1
1989
1989