LEBER CONGENITAL AMAUROSIS 7
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.900 |
None |
1.000 |
10 |
4
|
1998 |
2014 |
Cone-Rod Dystrophy 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
254
|
51
|
0.800 |
None |
1.000 |
31 |
7
|
1997 |
2019 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.800 |
strong |
0.955 |
22 |
4
|
1998 |
2019 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.800 |
strong |
1.000 |
15 |
5
|
1997 |
2018 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.310 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital Amaurosis of Retinal Origin
|
disease |
Eye Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
2 |
|
1998 |
1999 |
Retinal Degeneration
|
phenotype |
Eye Diseases
|
Pathologic Function
|
125
|
2
|
0.300 |
None |
1.000 |
1 |
|
1998 |
1998 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.300 |
None |
|
0 |
1
|
|
|
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.300 |
limited |
|
0 |
|
|
|
Cone-Rod Dystrophies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
86
|
53
|
0.200 |
None |
1.000 |
18 |
5
|
1997 |
2019 |
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.200 |
None |
1.000 |
15 |
5
|
1997 |
2019 |
Hereditary retinal dystrophy
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
42
|
1
|
0.200 |
None |
1.000 |
5 |
|
1999 |
2014 |
Macular dystrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
52
|
59
|
0.130 |
None |
1.000 |
3 |
1
|
2018 |
2019 |
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.130 |
None |
1.000 |
3 |
|
2001 |
2018 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
< 0.001 |
1 |
|
2001 |
2001 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.110 |
None |
1.000 |
1 |
|
2000 |
2000 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.110 |
None |
1.000 |
1 |
2
|
2014 |
2014 |
Amaurosis congenita of Leber, type 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
81
|
60
|
0.100 |
None |
1.000 |
15 |
1
|
1999 |
2019 |
Retinoblastoma
|
disease |
Neoplasms; Eye Diseases
|
Neoplastic Process
|
853
|
193
|
0.100 |
None |
0.900 |
10 |
|
2001 |
2019 |
Hormone measurement
|
group |
|
Laboratory Procedure
|
51
|
134
|
0.100 |
None |
1.000 |
1 |
2
|
2011 |
2011 |
Adolescent idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
656
|
1178
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
disease |
|
Finding
|
578
|
1158
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Scotoma, Central
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
43
|
2
|
0.100 |
None |
|
0 |
|
|
|
Photophobia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
227
|
7
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the cerebellar vermis
|
phenotype |
|
Finding
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|