Nodule
|
phenotype |
|
Acquired Abnormality
|
278
|
19
|
0.030 |
None |
1.000 |
3 |
|
1994 |
2018 |
Linear atrophy
|
disease |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
149
|
6
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cicatrix, Hypertrophic
|
disease |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
185
|
3
|
0.010 |
None |
< 0.001 |
1 |
|
2020 |
2020 |
Biliary stricture
|
disease |
Digestive System Diseases
|
Anatomical Abnormality
|
17
|
|
0.010 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
Vegetation
|
disease |
|
Anatomical Abnormality
|
67
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Spinal fusion
|
disease |
|
Anatomical Abnormality
|
67
|
2
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Adrenocortical hypoplasia
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Deficiency of steroid 21-monooxygenase
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
54
|
26
|
0.100 |
None |
0.973 |
37 |
1
|
1980 |
2019 |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
50
|
62
|
0.100 |
None |
0.973 |
37 |
1
|
1980 |
2019 |
Primary Pigmented Nodular Adrenal Dysplasia
|
disease |
|
Congenital Abnormality
|
31
|
1
|
0.070 |
None |
1.000 |
7 |
|
1992 |
2018 |
Adrenal hyperplasia, bilateral
|
disease |
|
Congenital Abnormality
|
12
|
|
0.040 |
None |
1.000 |
4 |
|
2003 |
2020 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2017 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2017 |
Microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
337
|
40
|
0.020 |
None |
1.000 |
2 |
|
1998 |
2018 |
Congenital contractural arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
559
|
48
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |
Congenital hypoplasia of adrenal gland
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
Congenital Abnormality
|
45
|
13
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2014 |
Rathke Cleft Cysts
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Congenital Abnormality
|
7
|
2
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.010 |
None |
1.000 |
1 |
|
1976 |
1976 |
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
384
|
96
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Xeroderma Pigmentosum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
137
|
35
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
109
|
45
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Ambiguous Genitalia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
109
|
14
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Cutis laxa, x-linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
22
|
10
|
0.010 |
None |
1.000 |
1 |
|
1982 |
1982 |
Progressive pseudorheumatoid dysplasia
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
64
|
27
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Klinefelter's syndrome - male with more than two X chromosomes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
90
|
5
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |