Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
5 |
1
|
2011 |
2016 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
5 |
1
|
2011 |
2016 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
5 |
2
|
2011 |
2016 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.040 |
None |
1.000 |
4 |
|
2017 |
2019 |
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.420 |
strong |
1.000 |
2 |
|
2015 |
2016 |
Liposarcoma, well differentiated
|
disease |
Neoplasms
|
Neoplastic Process
|
54
|
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Sarcoma, Spindle Cell
|
disease |
Neoplasms
|
Neoplastic Process
|
46
|
2
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Tuberculosis, Multidrug-Resistant
|
disease |
Infections
|
Disease or Syndrome
|
67
|
8
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Histiocytoma, Benign Fibrous
|
disease |
Neoplasms
|
Neoplastic Process
|
23
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Chronic heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
223
|
11
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Sarcoma of soft tissue
|
group |
Neoplasms
|
Neoplastic Process
|
258
|
6
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Sarcoma
|
group |
Neoplasms
|
Neoplastic Process
|
853
|
42
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Tuberculosis
|
disease |
Infections
|
Disease or Syndrome
|
1256
|
328
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Non-Small Cell Lung Carcinoma
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3926
|
712
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Speech Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
183
|
7
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
leiomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
213
|
5
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Fibromatosis
|
disease |
Neoplasms
|
Neoplastic Process
|
22
|
5
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
|
disease |
|
Disease or Syndrome
|
9
|
6
|
0.400 |
None |
|
0 |
6
|
|
|
Long face
|
phenotype |
|
Finding
|
182
|
12
|
0.100 |
None |
|
0 |
|
|
|
Impaired pain sensation
|
phenotype |
|
Finding
|
41
|
4
|
0.100 |
None |
|
0 |
|
|
|
Short philtrum
|
phenotype |
|
Finding
|
182
|
25
|
0.100 |
None |
|
0 |
|
|
|