Abnormal ocular motility
|
phenotype |
|
Finding
|
45
|
6
|
0.100 |
None |
|
0 |
|
|
|
Abnormal cerebral artery morphology
|
disease |
|
Anatomical Abnormality
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of brainstem morphology
|
phenotype |
|
Finding
|
21
|
2
|
0.100 |
None |
|
0 |
|
|
|
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.100 |
None |
|
0 |
|
|
|
Gross motor development delay
|
disease |
Mental Disorders
|
Disease or Syndrome
|
118
|
59
|
0.100 |
None |
|
0 |
|
|
|
Childhood Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
1740
|
140
|
0.020 |
None |
1.000 |
2 |
|
1992 |
2012 |
leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
2111
|
144
|
0.020 |
None |
1.000 |
2 |
|
1992 |
2012 |
DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
6
|
3
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Gastrointestinal Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
182
|
3
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Athabaskan brainstem dysgenesis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
2
|
0.920 |
None |
1.000 |
6 |
2
|
1999 |
2014 |
Bosley-Salih-Alorainy Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
3
|
0.920 |
strong |
1.000 |
5 |
3
|
1999 |
2014 |
Congenital neurologic anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
84
|
4
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Cranioschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
12
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.390 |
None |
0.889 |
9 |
1
|
2000 |
2009 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.040 |
None |
1.000 |
4 |
1
|
2000 |
2012 |
Malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4173
|
1142
|
0.020 |
None |
1.000 |
2 |
|
2000 |
2018 |
Primary malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3894
|
981
|
0.020 |
None |
1.000 |
2 |
|
2000 |
2018 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.020 |
None |
1.000 |
2 |
|
2000 |
2018 |
Teratocarcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
141
|
1
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Mesothelioma
|
disease |
Neoplasms
|
Neoplastic Process
|
560
|
4
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Rett Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
234
|
368
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Acute Promyelocytic Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
651
|
21
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2004 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.040 |
None |
1.000 |
4 |
|
2005 |
2015 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2017 |