Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
3
|
0.720 |
strong |
1.000 |
4 |
3
|
2009 |
2020 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.110 |
None |
1.000 |
2 |
1
|
2017 |
2018 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.110 |
None |
1.000 |
1 |
|
2020 |
2020 |
Psychotic Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
560
|
179
|
0.100 |
None |
1.000 |
1 |
2
|
2010 |
2010 |
Serum total cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
486
|
1243
|
0.100 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Mental disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
789
|
149
|
0.100 |
None |
1.000 |
1 |
2
|
2010 |
2010 |
Platelet Component Distribution Width Measurement
|
phenotype |
|
Laboratory Procedure
|
134
|
200
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Parathyroid hormone measurement
|
phenotype |
|
Laboratory Procedure
|
10
|
15
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
C-reactive protein measurement
|
phenotype |
|
Laboratory Procedure
|
135
|
624
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Sparse and thin eyebrow
|
phenotype |
|
Finding
|
68
|
8
|
0.100 |
None |
|
0 |
|
|
|
Redundant skin
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Pathologic Function
|
48
|
2
|
0.100 |
None |
|
0 |
|
|
|
Increased tendency to bruise
|
phenotype |
Wounds and Injuries
|
Finding
|
133
|
14
|
0.100 |
None |
|
0 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
1
|
|
|
Gingival Overgrowth
|
phenotype |
Stomatognathic Diseases
|
Finding
|
100
|
5
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Sparse hair
|
phenotype |
|
Finding
|
112
|
9
|
0.100 |
None |
|
0 |
|
|
|
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
|
0 |
|
|
|
Severe myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
184
|
116
|
0.100 |
None |
|
0 |
|
|
|
Primary hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
80
|
6
|
0.100 |
None |
|
0 |
|
|
|
Weight decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
271
|
3
|
0.100 |
None |
|
0 |
|
|
|
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
235
|
|
0.100 |
None |
|
0 |
|
|
|
Infra-orbital fold
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Edema of upper eyelid
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Eclabion
|
phenotype |
|
Finding
|
6
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|