INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
|
disease |
|
Disease or Syndrome
|
2
|
6
|
0.600 |
None |
1.000 |
5 |
6
|
2006 |
2018 |
Diffuse Large B-Cell Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1043
|
127
|
0.320 |
None |
1.000 |
2 |
|
2012 |
2016 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.300 |
moderate |
1.000 |
1 |
|
2006 |
2006 |
Otitis Media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
175
|
8
|
0.220 |
None |
1.000 |
4 |
|
2006 |
2011 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.130 |
None |
1.000 |
3 |
|
2018 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.110 |
None |
1.000 |
1 |
9
|
2016 |
2016 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Neoplastic Syndromes, Hereditary
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
88
|
6387
|
0.100 |
None |
1.000 |
187 |
321
|
1994 |
2017 |
Hereditary Nonpolyposis Colorectal Cancer
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
174
|
1331
|
0.100 |
None |
1.000 |
140 |
237
|
1997 |
2019 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
40
|
875
|
0.100 |
None |
1.000 |
125 |
273
|
1991 |
2017 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
2
|
78
|
0.100 |
None |
1.000 |
47 |
72
|
1994 |
2017 |
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
|
0.100 |
None |
1.000 |
9 |
13
|
1992 |
2014 |
Polyp of large intestine
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
99
|
32
|
0.100 |
None |
1.000 |
2 |
4
|
2012 |
2013 |
Malignant tumor of colon
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2969
|
688
|
0.100 |
None |
1.000 |
2 |
9
|
2012 |
2013 |
Age at menopause
|
phenotype |
|
Finding
|
129
|
209
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Gaucher Disease, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
48
|
124
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Endometrial Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1597
|
326
|
0.100 |
None |
|
0 |
10
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
|
|
|
Eversion of lower lip
|
phenotype |
|
Finding
|
105
|
3
|
0.100 |
None |
|
0 |
|
|
|
Tapering fingers (finding)
|
phenotype |
|
Finding
|
91
|
19
|
0.100 |
None |
|
0 |
|
|
|
Hyperactive behavior
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
1263
|
112
|
0.100 |
None |
|
0 |
|
|
|
Sunken eyes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
171
|
54
|
0.100 |
None |
|
0 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|