Neurodevelopmental delay
|
phenotype |
|
Finding
|
39
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Visual Impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
422
|
|
0.100 |
None |
|
0 |
|
|
|
Secondary hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
47
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal vision
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
115
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.100 |
None |
|
0 |
|
|
|
Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
109
|
45
|
0.100 |
None |
|
0 |
|
|
|
Isolated somatotropin deficiency
|
disease |
|
Disease or Syndrome
|
168
|
27
|
0.100 |
None |
|
0 |
1
|
|
|
Gestational Diabetes
|
phenotype |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
649
|
224
|
0.100 |
None |
|
0 |
|
|
|
Polydipsia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
61
|
5
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Dry skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Sign or Symptom
|
159
|
12
|
0.100 |
None |
|
0 |
|
|
|
Dyssomnias
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
236
|
10
|
0.100 |
None |
|
0 |
|
|
|
Circling gait
|
phenotype |
|
Sign or Symptom
|
9
|
1
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Metaplasia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
52
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Epilepsy, Temporal Lobe
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
354
|
33
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Febrile Convulsions
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
192
|
65
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Hippocampal sclerosis
|
disease |
|
Disease or Syndrome
|
84
|
14
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Carcinoma of ampulla of Vater
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
37
|
4
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Pancreatic intraepithelial neoplasia
|
disease |
Neoplasms
|
Neoplastic Process
|
186
|
11
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Adenocarcinoma of ampulla of Vater
|
disease |
Neoplasms
|
Neoplastic Process
|
15
|
1
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Esophageal Atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
59
|
6
|
0.140 |
None |
1.000 |
4 |
1
|
2006 |
2007 |
CHARGE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
49
|
205
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |