Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
84
|
|
0.400 |
limited |
|
0 |
|
|
|
Renal glomerular disease
|
group |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
221
|
7
|
0.400 |
limited |
|
0 |
|
|
|
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.300 |
None |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
1
|
|
|
Raised TSH level
|
phenotype |
Endocrine System Diseases
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
51
|
29
|
0.100 |
None |
|
0 |
2
|
|
|
Fine hair
|
phenotype |
|
Finding
|
69
|
1
|
0.100 |
None |
|
0 |
|
|
|
Corneal stromal opacities
|
phenotype |
Eye Diseases
|
Finding
|
46
|
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
2
|
|
|
Coarse hair
|
phenotype |
|
Finding
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|
High pitched voice
|
phenotype |
|
Finding
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Bulbous nose
|
phenotype |
|
Finding
|
123
|
13
|
0.100 |
None |
|
0 |
|
|
|
Microdontia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
109
|
6
|
0.100 |
None |
|
0 |
|
|
|
Recurrent infections
|
phenotype |
Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases
|
Finding
|
127
|
14
|
0.100 |
None |
|
0 |
|
|
|
Small for gestational age (disorder)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
181
|
34
|
0.100 |
None |
|
0 |
2
|
|
|
Abnormal immunoglobulin level
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Thoracic kyphosis
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
21
|
4
|
0.100 |
None |
|
0 |
|
|
|
Ovoid vertebral bodies
|
phenotype |
|
Finding
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Cellular immunodeficiency
|
phenotype |
Immune System Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Protuberant abdomen
|
phenotype |
|
Finding
|
25
|
2
|
0.100 |
None |
|
0 |
|
|
|
Shallow acetabular fossae
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
|
|
|