Amaurosis congenita of Leber, type 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
81
|
60
|
0.100 |
None |
1.000 |
10 |
|
2006 |
2019 |
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.320 |
None |
1.000 |
2 |
|
2007 |
2008 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2014 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.320 |
limited |
1.000 |
2 |
|
2009 |
2018 |
Autosomal recessive retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
82
|
31
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Blindness, Legal
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Blindness, Acquired
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Amaurosis
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Familial aplasia of the vermis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
95
|
187
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Hereditary macular coloboma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
11
|
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Anorectal Malformations
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
112
|
6
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cone-Rod Dystrophy 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
254
|
51
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Blindness, Monocular
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Blindness both eyes NOS (disorder)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Retinal Dystrophy, Early Onset Severe
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
14
|
2
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Usher Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
68
|
74
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Blindness, Hysterical
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cone-Rod Dystrophies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
86
|
53
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Respiration Disorders
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
208
|
6
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Respiratory Tract Diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
198
|
109
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Tracheal Diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
155
|
1
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Blindness, Transient
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Hereditary retinal dystrophy
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
42
|
1
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |