Piebaldism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
33
|
18
|
0.100 |
None |
|
0 |
|
|
|
Osteopetrosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
74
|
5
|
0.300 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Foveal hypoplasia (finding)
|
phenotype |
|
Finding
|
25
|
4
|
0.100 |
None |
|
0 |
|
|
|
Premature canities
|
phenotype |
|
Finding
|
33
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital anomaly of the kidney
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
63
|
4
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Dry Skin, CTCAE
|
phenotype |
|
Finding
|
137
|
|
0.100 |
None |
|
0 |
|
|
|
Retinopathy, CTCAE
|
phenotype |
|
Finding
|
108
|
|
0.100 |
None |
|
0 |
|
|
|
White forelock
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Giant melanosomes in melanocytes
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital sensorineural hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
68
|
17
|
0.100 |
None |
|
0 |
1
|
|
|
Shallow orbits
|
phenotype |
Eye Diseases
|
Finding
|
20
|
4
|
0.100 |
None |
|
0 |
|
|
|
Hearing Loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
18
|
61
|
0.100 |
None |
|
0 |
1
|
|
|
Telecanthus
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
134
|
14
|
0.100 |
None |
|
0 |
|
|
|
Heterochromia iridis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases
|
Finding
|
17
|
10
|
0.100 |
None |
|
0 |
4
|
|
|
Prelingual sensorineural hearing impairment
|
disease |
|
Disease or Syndrome
|
17
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Reduced visual acuity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
147
|
10
|
0.100 |
None |
|
0 |
|
|
|
Pancreatic Neoplasm
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
764
|
20
|
0.100 |
None |
|
0 |
|
|
|
Anterior chamber anomalies
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
18
|
1
|
0.100 |
None |
|
0 |
|
|
|
Photophobia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
227
|
7
|
0.100 |
None |
|
0 |
|
|
|
Retinal depigmentation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
19
|
5
|
0.100 |
None |
|
0 |
|
|
|
Dry skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Sign or Symptom
|
159
|
12
|
0.100 |
None |
|
0 |
|
|
|
Optic nerve dysplasia
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|