Transient neonatal hyperparathyroidism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
6
|
0.610 |
None |
1.000 |
2 |
6
|
2018 |
2019 |
Cri-du-Chat Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
11
|
|
0.030 |
None |
1.000 |
3 |
|
2013 |
2020 |
HYPERPARATHYROIDISM, NEONATAL SEVERE
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
Disease or Syndrome
|
14
|
14
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital glucose-galactose malabsorption
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
19
|
12
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Femoral bowing
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
38
|
13
|
0.100 |
None |
|
0 |
|
|
|
Thin rib
|
phenotype |
|
Finding
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|
Alkaline phosphatase raised
|
phenotype |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Finding
|
55
|
|
0.100 |
None |
|
0 |
|
|
|
Short ribs
|
phenotype |
|
Finding
|
60
|
27
|
0.100 |
None |
|
0 |
|
|
|
Serum alkaline phosphatase raised
|
phenotype |
|
Finding
|
67
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hypocalcemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
94
|
13
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Williams Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
104
|
6
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Narrow thorax
|
phenotype |
|
Finding
|
112
|
18
|
0.100 |
None |
|
0 |
|
|
|
Hypocholesterolemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
113
|
22
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Bronchitis, Chronic
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
118
|
9
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Nephrocalcinosis
|
disease |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
118
|
20
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
118
|
8
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Parathyroid Adenoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
133
|
12
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cholesteatoma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
135
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Sclerocystic Ovaries
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
144
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Bicuspid aortic valve
|
disease |
Cardiovascular Diseases
|
Congenital Abnormality
|
154
|
23
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hypercalcemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
157
|
9
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2019 |
Polyhydramnios
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
208
|
28
|
0.100 |
None |
|
0 |
|
|
|
Breast adenocarcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
219
|
7
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Erythema
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
227
|
8
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Coughing
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
235
|
16
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |