Congenital Hypothyroidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
94
|
48
|
0.900 |
strong |
0.976 |
42 |
11
|
2002 |
2019 |
Thyroid Dyshormonogenesis 6
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
15
|
0.700 |
strong |
1.000 |
20 |
15
|
2002 |
2018 |
Endemic Cretinism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
26
|
|
0.500 |
None |
1.000 |
2 |
|
2005 |
2006 |
Goiter
|
phenotype |
Endocrine System Diseases
|
Disease or Syndrome
|
142
|
19
|
0.470 |
strong |
1.000 |
8 |
2
|
2008 |
2019 |
Transient hypothyroxinaemia of prematurity
|
disease |
|
Disease or Syndrome
|
6
|
|
0.380 |
strong |
0.889 |
9 |
|
2002 |
2019 |
Myxedema, Congenital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
4
|
|
0.300 |
None |
1.000 |
2 |
|
2005 |
2006 |
Thyroid Dyshormonogenesis 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
6
|
7
|
0.300 |
None |
1.000 |
2 |
|
2010 |
2011 |
Iodide organification defect
|
phenotype |
|
Finding
|
2
|
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Genetic transient congenital hypothyroidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.150 |
None |
1.000 |
5 |
|
2005 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
15 |
1
|
2002 |
2017 |
Familial thyroid dyshormonogenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.100 |
None |
1.000 |
13 |
2
|
2002 |
2018 |
Chronic granulomatous disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
105
|
23
|
0.100 |
None |
1.000 |
11 |
|
1996 |
2019 |
Familial dyshormonogenetic goiter
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
11
|
5
|
0.100 |
None |
1.000 |
10 |
2
|
2006 |
2018 |
Icterus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
241
|
17
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
760
|
67
|
0.100 |
None |
|
0 |
|
|
|
Abdomen distended
|
phenotype |
Digestive System Diseases
|
Finding
|
103
|
6
|
0.100 |
None |
|
0 |
|
|
|
Macroglossia
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
115
|
2
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Raised TSH level
|
phenotype |
Endocrine System Diseases
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased T3/T4 ratio
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Large fontanelle
|
phenotype |
|
Finding
|
77
|
3
|
0.100 |
None |
|
0 |
|
|
|