Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
1
|
|
|
Ebstein Anomaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
10
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Endometrial Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1597
|
326
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Glioma
|
disease |
Neoplasms
|
Neoplastic Process
|
3097
|
353
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hematologic Neoplasms
|
group |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
827
|
60
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hyperactive behavior
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
1263
|
112
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Hyperinsulinism
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
620
|
64
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Immune System Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
451
|
116
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Impaired insulin secretion
|
disease |
|
Disease or Syndrome
|
88
|
14
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Infection by Cryptococcus neoformans
|
disease |
Infections
|
Disease or Syndrome
|
167
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.300 |
strong |
1.000 |
1 |
|
2019 |
2019 |
Laryngeal Squamous Cell Carcinoma
|
disease |
Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Neoplastic Process
|
504
|
30
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
leiomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
213
|
5
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
2111
|
144
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.040 |
None |
1.000 |
4 |
|
2015 |
2019 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.050 |
None |
1.000 |
5 |
|
2014 |
2019 |
Malignant neoplasm of colon and/or rectum
|
disease |
|
Neoplastic Process
|
3669
|
502
|
0.070 |
None |
1.000 |
7 |
|
2008 |
2018 |
Malignant neoplasm of endometrium
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1235
|
197
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Malignant neoplasm of pancreas
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2667
|
277
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2018 |