Kabuki make-up syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
37
|
253
|
0.310 |
None |
1.000 |
1 |
|
2015 |
2015 |
Myocardial Reperfusion Injury
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
226
|
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hyperoxaluria
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
49
|
3
|
0.200 |
None |
1.000 |
1 |
|
2012 |
2012 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.140 |
None |
1.000 |
4 |
|
2013 |
2018 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.120 |
None |
1.000 |
3 |
1
|
2017 |
2019 |
Osteoporosis
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1098
|
182
|
0.110 |
None |
1.000 |
2 |
1
|
2010 |
2018 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.100 |
None |
1.000 |
17 |
|
2007 |
2020 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.812 |
16 |
|
1992 |
2018 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
1.000 |
12 |
|
2003 |
2019 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.100 |
None |
1.000 |
10 |
|
2000 |
2019 |
White Blood Cell Count procedure
|
phenotype |
|
Laboratory Procedure
|
681
|
1322
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Intelligence
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
645
|
2093
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Triglycerides measurement
|
phenotype |
|
Laboratory Procedure
|
563
|
1418
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Crossed fused renal ectopia
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Renal hypoplasia/aplasia
|
phenotype |
|
Finding
|
73
|
2
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Obstruction of pelviureteric junction
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Pathologic Function
|
14
|
2
|
0.100 |
None |
|
0 |
|
|
|
Eversion of lateral third of lower eyelids
|
phenotype |
Eye Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Sparse lateral eyebrow
|
phenotype |
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Protruding ear
|
phenotype |
|
Finding
|
152
|
6
|
0.100 |
None |
|
0 |
|
|
|
Long eyelashes
|
phenotype |
|
Finding
|
83
|
17
|
0.100 |
None |
|
0 |
|
|
|
Short middle phalanx of finger
|
phenotype |
|
Finding
|
20
|
2
|
0.100 |
None |
|
0 |
|
|
|
Widely spaced teeth
|
phenotype |
|
Finding
|
71
|
10
|
0.100 |
None |
|
0 |
|
|
|
Butterfly vertebrae
|
phenotype |
|
Congenital Abnormality
|
13
|
2
|
0.100 |
None |
|
0 |
|
|
|