Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the immune system
|
disease |
|
Pathologic Function
|
34
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the face
|
phenotype |
|
Anatomical Abnormality
|
31
|
24
|
0.100 |
None |
|
0 |
|
|
|
Impaired growth-hormone response to insulin stimulation test
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV
|
disease |
|
Disease or Syndrome
|
3
|
12
|
0.100 |
None |
|
0 |
2
|
|
|
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
420
|
42
|
0.200 |
None |
0.962 |
26 |
|
1975 |
2019 |
Diabetes Mellitus, Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1675
|
954
|
0.290 |
None |
1.000 |
10 |
|
1975 |
2018 |
Myotonic Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
155
|
4
|
0.020 |
None |
1.000 |
2 |
|
1975 |
1993 |
MYOTONIC DYSTROPHY 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
179
|
14
|
0.010 |
None |
1.000 |
1 |
|
1975 |
1975 |
Hypercholesterolemia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
203
|
1423
|
0.010 |
None |
1.000 |
1 |
|
1976 |
1976 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.010 |
None |
< 0.001 |
1 |
|
1977 |
1977 |
Acromegaly
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
138
|
25
|
0.400 |
None |
0.982 |
112 |
|
1978 |
2020 |
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.100 |
None |
0.906 |
32 |
|
1978 |
2020 |
Hyperglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1098
|
108
|
0.090 |
None |
0.889 |
9 |
|
1978 |
2019 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.060 |
None |
1.000 |
6 |
|
1978 |
2010 |
Diabetic Retinopathy
|
disease |
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
645
|
213
|
0.030 |
None |
0.667 |
3 |
|
1978 |
2018 |
Turner Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
162
|
21
|
0.400 |
None |
0.938 |
64 |
|
1979 |
2019 |
Gonadal Dysgenesis, 45,X
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
|
0.310 |
None |
1.000 |
2 |
|
1979 |
2004 |
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.010 |
None |
1.000 |
1 |
|
1980 |
1980 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.400 |
None |
0.974 |
152 |
6
|
1981 |
2019 |
Hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
178
|
18
|
0.050 |
None |
1.000 |
5 |
|
1981 |
2019 |
Isolated somatotropin deficiency
|
disease |
|
Disease or Syndrome
|
168
|
27
|
0.500 |
None |
0.952 |
210 |
5
|
1982 |
2020 |