NEPHRONOPHTHISIS 14
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.710 |
None |
1.000 |
2 |
1
|
2012 |
2016 |
JOUBERT SYNDROME 19
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Cerebellar cortical dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Hypertrophic obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Arima syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
11
|
|
0.500 |
None |
1.000 |
1 |
|
2012 |
2012 |
NEPHRONOPHTHISIS 2
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
14
|
7
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Molar tooth sign on MRI
|
phenotype |
|
Finding
|
35
|
7
|
0.100 |
None |
|
0 |
|
|
|
Fundus coloboma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
57
|
2
|
0.100 |
None |
|
0 |
|
|
|
Coloboma of the Retina
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
58
|
3
|
0.100 |
None |
|
0 |
|
|
|
Biparietal narrowing
|
phenotype |
|
Finding
|
60
|
|
0.100 |
None |
|
0 |
|
|
|
Polydactyly of toes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
61
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
66
|
4
|
0.200 |
None |
|
0 |
|
|
|
Abnormality of the hypothalamus-pituitary axis
|
disease |
|
Anatomical Abnormality
|
70
|
|
0.100 |
None |
|
0 |
|
|
|
Amphetamine Abuse
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
75
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Hand polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
75
|
1
|
0.100 |
None |
|
0 |
|
|
|
Amphetamine-Related Disorders
|
group |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
78
|
3
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Amphetamine Addiction
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
81
|
2
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Tachypnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
82
|
5
|
0.100 |
None |
|
0 |
|
|
|
Congenital cerebral hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
93
|
6
|
0.100 |
None |
|
0 |
|
|
|
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 |
|
2016 |
2016 |
Nephronophthisis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
96
|
103
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Cerebellar vermis hypoplasia
|
phenotype |
|
Finding
|
100
|
26
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
|
0 |
2
|
|
|
Aplasia/Hypoplasia of the corpus callosum
|
phenotype |
|
Finding
|
108
|
8
|
0.100 |
None |
|
0 |
|
|
|
Dandy-Walker Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
137
|
9
|
0.200 |
None |
1.000 |
1 |
|
2006 |
2006 |