Gyrate Atrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
8
|
35
|
1.000 |
definitive |
0.962 |
52 |
35
|
1981 |
2019 |
Hyperornithinemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
3
|
65
|
0.670 |
None |
1.000 |
13 |
62
|
1981 |
2017 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.330 |
None |
1.000 |
3 |
|
1988 |
1992 |
Malignant neoplasm of liver
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1649
|
88
|
0.310 |
None |
1.000 |
2 |
|
2017 |
2019 |
Liver Cirrhosis, Experimental
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Experimental Model of Disease
|
870
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Necrotizing Enterocolitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
103
|
7
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Liver neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1424
|
7
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.160 |
None |
1.000 |
6 |
|
1988 |
1997 |
Chorioretinal atrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
24
|
4
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Progressive night blindness
|
phenotype |
Eye Diseases
|
Finding
|
87
|
3
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
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
|
|
|
Posterior subcapsular cataract
|
disease |
Eye Diseases
|
Disease or Syndrome
|
67
|
9
|
0.100 |
None |
|
0 |
|
|
|
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.100 |
None |
|
0 |
|
|
|
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
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 |
|
|
|
Electromyogram abnormal
|
phenotype |
|
Finding
|
130
|
12
|
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 |
|
|
|
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
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 |
|
|
|
GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA
|
disease |
|
Finding
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Subcapsular cataract
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Acquired Abnormality
|
17
|
1
|
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
|
|
|