Septo-Optic Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
35
|
19
|
1.000 |
None |
1.000 |
31 |
12
|
1998 |
2016 |
Hypoplasia of the optic nerve
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
59
|
14
|
0.410 |
strong |
1.000 |
2 |
|
2003 |
2015 |
Pituitary Hormone Deficiency, Combined, 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
Disease or Syndrome
|
6
|
24
|
0.400 |
None |
1.000 |
1 |
3
|
2003 |
2003 |
Pituitary stalk interruption syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
16
|
5
|
0.320 |
None |
1.000 |
3 |
1
|
2011 |
2017 |
Kallmann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
86
|
30
|
0.310 |
None |
1.000 |
5 |
3
|
2007 |
2014 |
Hypopituitarism and septooptic 'dysplasia'
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
|
0.310 |
None |
1.000 |
1 |
|
2003 |
2003 |
Hypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
69
|
4
|
0.290 |
None |
0.917 |
12 |
1
|
1998 |
2016 |
Pituitary dwarfism
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
41
|
12
|
0.190 |
None |
1.000 |
9 |
1
|
2003 |
2016 |
Isolated somatotropin deficiency
|
disease |
|
Disease or Syndrome
|
168
|
27
|
0.150 |
None |
1.000 |
5 |
|
2011 |
2016 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.110 |
None |
1.000 |
1 |
|
2002 |
2002 |
Central hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
35
|
3
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
Somatotropin deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
154
|
14
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Secondary hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
47
|
2
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
Panhypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
73
|
23
|
0.100 |
None |
0.900 |
20 |
6
|
2003 |
2019 |
Growth Hormone Deficiency With Pituitary Anomalies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.100 |
None |
1.000 |
3 |
2
|
1998 |
2009 |
Penis agenesis
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
217
|
11
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of kidneys syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
110
|
|
0.100 |
None |
|
0 |
|
|
|
Severe global developmental delay
|
phenotype |
|
Finding
|
130
|
50
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal ridge
|
phenotype |
|
Finding
|
117
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic finger
|
phenotype |
|
Finding
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Adrenal hypoplasia
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Death in infancy
|
phenotype |
|
Finding
|
146
|
7
|
0.100 |
None |
|
0 |
|
|
|
Dyspareunia
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders
|
Finding
|
37
|
|
0.100 |
None |
|
0 |
|
|
|