Retinal Degeneration
|
phenotype |
Eye Diseases
|
Pathologic Function
|
125
|
2
|
0.100 |
None |
|
0 |
|
|
|
Laryngomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
67
|
18
|
0.100 |
None |
|
0 |
|
|
|
White forelock
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Neoplasm of small intestine
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Acral Lentiginous Malignant Melanoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
16
|
2
|
0.100 |
None |
|
0 |
|
|
|
Lung Neoplasms
|
group |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
1486
|
39
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
1
|
|
|
Mask-like facies
|
phenotype |
Nervous System Diseases
|
Finding
|
64
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Secondary amenorrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
49
|
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Kidney Neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
295
|
11
|
0.100 |
None |
|
0 |
|
|
|
Calcium pyrophosphate deposition disease
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
34
|
5
|
0.100 |
None |
|
0 |
|
|
|
Insulin Resistance
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
162
|
53
|
0.100 |
None |
|
0 |
|
|
|
Subcutaneous calcification
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Premature canities
|
phenotype |
|
Finding
|
33
|
4
|
0.100 |
None |
|
0 |
|
|
|
Skin Ulcer
|
phenotype |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
151
|
1
|
0.100 |
None |
|
0 |
|
|
|
Decreased fertility
|
phenotype |
|
Finding
|
50
|
|
0.100 |
None |
|
0 |
|
|
|
Gastrointestinal carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
26
|
3
|
0.100 |
None |
|
0 |
|
|
|
Osteosclerosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
82
|
1
|
0.100 |
None |
|
0 |
|
|
|
Joint stiffness
|
phenotype |
Musculoskeletal Diseases
|
Sign or Symptom
|
163
|
14
|
0.100 |
None |
|
0 |
|
|
|
Secondary physiologic amenorrhea
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
58
|
2
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary artery stenosis
|
disease |
Cardiovascular Diseases
|
Anatomical Abnormality
|
36
|
2
|
0.100 |
None |
|
0 |
|
|
|
Convex nasal ridge
|
phenotype |
|
Finding
|
69
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Vertical Talus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
69
|
20
|
0.100 |
None |
|
0 |
|
|
|
Myocardial Infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
1800
|
680
|
0.100 |
None |
|
0 |
|
|
|