USHER SYNDROME, TYPE ID
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
8
|
40
|
0.100 |
None |
|
0 |
1
|
|
|
Trichilemmoma
|
disease |
Neoplasms
|
Neoplastic Process
|
8
|
4
|
0.100 |
None |
|
0 |
|
|
|
Thyroid Neoplasm
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
1164
|
135
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Thyroid carcinoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
1175
|
145
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Subcutaneous nodule
|
phenotype |
Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Pathologic Function
|
80
|
1
|
0.100 |
None |
|
0 |
|
|
|
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|
Skin Papule
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
74
|
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Secondary hemochromatosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
6
|
1
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Reticulocytosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2084
|
288
|
0.100 |
None |
|
0 |
|
|
|
Reduced activity of N-acetylglucosaminyltransferase II
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.030 |
None |
1.000 |
3 |
|
2015 |
2019 |
Polyp of large intestine
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
99
|
32
|
0.100 |
None |
|
0 |
|
|
|
Papule
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
76
|
131
|
0.100 |
None |
|
0 |
|
|
|
Papilloma
|
disease |
Neoplasms
|
Neoplastic Process
|
273
|
27
|
0.100 |
None |
|
0 |
|
|
|
Papillary thyroid carcinoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
1348
|
204
|
0.100 |
None |
|
0 |
|
|
|
Noninfiltrating Intraductal Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
486
|
13
|
0.100 |
None |
|
0 |
|
|
|
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.100 |
None |
|
0 |
|
|
|
Mucosal telangiectasiae
|
disease |
Cardiovascular Diseases
|
Anatomical Abnormality
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Meningioma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
634
|
43
|
0.100 |
None |
|
0 |
|
|
|
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.100 |
None |
|
0 |
|
|
|