Coffin-Siris syndrome
|
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
|
Disease or Syndrome
|
56
|
6
|
0.660 |
None |
0.833 |
6 |
|
2014 |
2019 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.600 |
None |
1.000 |
2 |
5
|
2014 |
2016 |
Neoplasm Invasiveness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Pathologic Function
|
193
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Malignant neoplasm of salivary gland
|
disease |
Neoplasms; Stomatognathic Diseases
|
Neoplastic Process
|
91
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Adenoid Cystic Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
325
|
30
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Salivary Gland Neoplasms
|
group |
Neoplasms; Stomatognathic Diseases
|
Neoplastic Process
|
116
|
3
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Pierre Robin Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
39
|
3
|
0.210 |
None |
1.000 |
1 |
|
2016 |
2016 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.120 |
None |
1.000 |
2 |
|
2016 |
2018 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.120 |
None |
1.000 |
2 |
|
2018 |
2019 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Mantle cell lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
466
|
19
|
0.100 |
None |
0.962 |
52 |
|
2008 |
2020 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.970 |
33 |
|
2002 |
2019 |
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
296
|
9
|
0.100 |
None |
0.933 |
30 |
|
2008 |
2020 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
3 |
1
|
2004 |
2016 |
Gait, Unsteady
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
143
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Midface retrusion
|
phenotype |
|
Finding
|
228
|
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|
Underdeveloped supraorbital ridges
|
phenotype |
|
Finding
|
53
|
2
|
0.100 |
None |
|
0 |
|
|
|
Generalized hirsutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
113
|
3
|
0.100 |
None |
|
0 |
|
|
|
Irregularly spaced teeth
|
phenotype |
|
Finding
|
3
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Congenital diaphragmatic hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
239
|
31
|
0.100 |
None |
|
0 |
|
|
|
Short distal phalanx of finger
|
phenotype |
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
|
|
|
Poor school performance
|
phenotype |
|
Finding
|
211
|
411
|
0.100 |
None |
|
0 |
1
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|