Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
2 |
|
2010 |
2012 |
Thyrotropin-Releasing Hormone Resistance, Generalized
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
2009 |
2009 |
Large posterior fontanelle
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital central hypothyroidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Primary Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
19
|
3
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
Thyroid Hormone Resistance Syndrome
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
25
|
5
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
Endemic Cretinism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
26
|
|
0.200 |
None |
|
0 |
|
|
|
Central hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
35
|
3
|
0.310 |
None |
1.000 |
2 |
|
1997 |
2017 |
Columnar Cell Hyperplasia of the Breast
|
disease |
|
Neoplastic Process
|
38
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Generalized Thyroid Hormone Resistance
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
45
|
34
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
Secondary hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
47
|
2
|
0.300 |
None |
1.000 |
1 |
|
1997 |
1997 |
Non-Functioning Pituitary Gland Neoplasm
|
disease |
Neoplasms; Nervous System Diseases; Endocrine System Diseases
|
Neoplastic Process
|
56
|
2
|
0.010 |
None |
< 0.001 |
1 |
|
2001 |
2001 |
Prolonged neonatal jaundice
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
59
|
14
|
0.100 |
None |
|
0 |
|
|
|
Growth Hormone-Secreting Pituitary Adenoma
|
disease |
Neoplasms; Nervous System Diseases; Endocrine System Diseases
|
Neoplastic Process
|
60
|
5
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Congenital Hypothyroidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
94
|
48
|
0.210 |
None |
1.000 |
1 |
|
2016 |
2016 |
Macroglossia
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
115
|
2
|
0.100 |
None |
|
0 |
|
|
|
Acromegaly
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
138
|
25
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Lean body mass
|
phenotype |
|
Clinical Attribute
|
144
|
211
|
0.100 |
None |
1.000 |
1 |
2
|
2009 |
2009 |
Prolactinoma
|
disease |
Neoplasms; Nervous System Diseases; Endocrine System Diseases
|
Neoplastic Process
|
187
|
6
|
0.010 |
None |
< 0.001 |
1 |
|
2001 |
2001 |
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
235
|
|
0.100 |
None |
|
0 |
|
|
|
Dyssomnias
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
236
|
10
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Sleep disturbances
|
phenotype |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
311
|
74
|
0.100 |
None |
|
0 |
|
|
|
Sleep Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
360
|
38
|
0.100 |
None |
|
0 |
|
|
|