Pfeiffer Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
8
|
36
|
0.900 |
None |
1.000 |
29 |
6
|
1994 |
2020 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
Congenital Abnormality
|
1
|
17
|
0.750 |
strong |
0.889 |
9 |
17
|
2003 |
2019 |
Encephalocraniocutaneous lipomatosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Congenital Abnormality
|
5
|
6
|
0.740 |
None |
1.000 |
7 |
4
|
2009 |
2020 |
Osteoglophonic dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
100
|
4
|
0.730 |
None |
1.000 |
7 |
4
|
2003 |
2020 |
Kallmann Syndrome 2 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
8
|
45
|
0.720 |
strong |
0.971 |
34 |
42
|
1994 |
2017 |
JACKSON-WEISS SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
20
|
0.710 |
strong |
1.000 |
4 |
3
|
2000 |
2017 |
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.700 |
strong |
0.941 |
17 |
4
|
1995 |
2018 |
Trigonocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
52
|
7
|
0.640 |
None |
0.750 |
4 |
|
2000 |
2019 |
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1719
|
297
|
0.620 |
None |
1.000 |
7 |
|
2003 |
2018 |
Interfrontal craniofaciosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
7
|
2
|
0.610 |
strong |
1.000 |
3 |
2
|
2000 |
2006 |
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
|
0.600 |
None |
0.979 |
48 |
10
|
2003 |
2019 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.600 |
None |
0.977 |
44 |
1
|
1994 |
2020 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.600 |
None |
0.976 |
42 |
1
|
1999 |
2020 |
Unipolar Depression
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
641
|
225
|
0.510 |
None |
0.667 |
5 |
|
2006 |
2017 |
Idiopathic hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
82
|
66
|
0.500 |
strong |
1.000 |
22 |
12
|
2006 |
2020 |
Astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
985
|
59
|
0.450 |
None |
1.000 |
7 |
5
|
1994 |
2019 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.450 |
None |
0.833 |
6 |
1
|
2004 |
2019 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.430 |
None |
1.000 |
4 |
2
|
2007 |
2017 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.420 |
None |
1.000 |
4 |
1
|
2006 |
2017 |
Septo-Optic Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
35
|
19
|
0.420 |
None |
1.000 |
2 |
2
|
2012 |
2013 |
Hypodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
218
|
48
|
0.410 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.400 |
None |
0.984 |
63 |
4
|
1988 |
2020 |
Myeloproliferative disease
|
group |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
365
|
43
|
0.400 |
None |
0.975 |
40 |
|
1998 |
2018 |
Non-Small Cell Lung Carcinoma
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3926
|
712
|
0.400 |
None |
0.917 |
36 |
|
1999 |
2020 |
Malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4173
|
1142
|
0.400 |
None |
0.970 |
33 |
|
2011 |
2019 |