Microdeletion syndromes
|
disease |
|
Disease or Syndrome
|
18
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Suntan
|
phenotype |
|
Organ or Tissue Function
|
53
|
94
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Epilepsy, Cryptogenic
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
88
|
4
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Early-Stage Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
142
|
7
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Red Blood Cell Count measurement
|
phenotype |
|
Laboratory Procedure
|
717
|
1599
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Metabolic Bone Disorder
|
group |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
66
|
1
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Squamous cell carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2507
|
257
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Congenital anomaly of face
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
114
|
7
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Malignant neoplasm of ovary
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2563
|
315
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
ovarian neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2542
|
757
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Awakening Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
83
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Kabuki make-up syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
37
|
253
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Diabetic embryopathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hair Color
|
phenotype |
|
Organism Attribute
|
130
|
312
|
0.100 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Broad forehead
|
phenotype |
|
Finding
|
133
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Low anterior hairline
|
phenotype |
|
Finding
|
71
|
17
|
0.100 |
None |
|
0 |
|
|
|
Pointed chin
|
phenotype |
|
Finding
|
71
|
13
|
0.100 |
None |
|
0 |
|
|
|
Atrioventricular Septal Defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
58
|
19
|
0.100 |
None |
|
0 |
1
|
|
|