SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
|
disease |
|
Disease or Syndrome
|
1
|
9
|
0.600 |
strong |
1.000 |
5 |
9
|
2014 |
2018 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.440 |
strong |
0.750 |
4 |
1
|
2014 |
2016 |
PITUITARY DWARFISM I
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
25
|
9
|
0.430 |
strong |
0.667 |
3 |
1
|
2014 |
2016 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.310 |
None |
1.000 |
1 |
2
|
2010 |
2010 |
LIG4 Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2
|
13
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Chromosome Aberrations
|
group |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
40
|
875
|
0.300 |
limited |
1.000 |
1 |
|
2015 |
2015 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
23
|
154
|
0.300 |
limited |
1.000 |
1 |
|
2015 |
2015 |
Hereditary Nonpolyposis Colorectal Cancer
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
174
|
1331
|
0.300 |
limited |
1.000 |
1 |
|
2015 |
2015 |
Chronic myeloproliferative disorder
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
366
|
47
|
0.300 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Colorectal cancer, hereditary nonpolyposis, type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
24
|
179
|
0.300 |
limited |
1.000 |
1 |
|
2015 |
2015 |
Hereditary non-polyposis colorectal cancer syndrome
|
disease |
|
Congenital Abnormality
|
31
|
|
0.300 |
limited |
1.000 |
1 |
|
2015 |
2015 |
Seckel syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
56
|
3
|
0.300 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Autosome Abnormalities
|
group |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
FANCONI ANEMIA, COMPLEMENTATION GROUP Q
|
disease |
|
Disease or Syndrome
|
4
|
7
|
0.300 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Lymphoma
|
group |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1548
|
91
|
0.120 |
None |
1.000 |
2 |
|
2002 |
2008 |
Severe Combined Immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
284
|
46
|
0.120 |
None |
1.000 |
2 |
|
2000 |
2016 |
Immunologic Deficiency Syndromes
|
group |
Immune System Diseases
|
Disease or Syndrome
|
973
|
31
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.100 |
None |
1.000 |
14 |
|
2008 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.100 |
None |
0.800 |
10 |
8
|
2003 |
2019 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.100 |
None |
0.800 |
10 |
8
|
2003 |
2019 |
Normal motor development
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.100 |
None |
1.000 |
1 |
2
|
2011 |
2011 |
Speech Delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
58
|
11
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Short philtrum
|
phenotype |
|
Finding
|
182
|
25
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |