Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
BARDET-BIEDL SYNDROME 1, MODIFIER OF
|
phenotype |
|
Finding
|
3
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Low-set, posteriorly rotated ears
|
phenotype |
|
Finding
|
223
|
19
|
0.100 |
None |
|
0 |
|
|
|
External genital hypoplasia
|
phenotype |
|
Finding
|
29
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Fibrosis, Liver
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1179
|
64
|
0.100 |
None |
|
0 |
|
|
|
Speech Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
183
|
7
|
0.100 |
None |
|
0 |
1
|
|
|
Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
770
|
198
|
0.100 |
None |
|
0 |
|
|
|
Conductive hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
291
|
5
|
0.100 |
None |
|
0 |
|
|
|
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Ophthalmoplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
216
|
12
|
0.100 |
None |
|
0 |
|
|
|
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Nyctalopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
168
|
18
|
0.100 |
None |
|
0 |
|
|
|
Nephrotic Syndrome
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
384
|
45
|
0.100 |
None |
|
0 |
|
|
|
Keratoconus
|
disease |
Eye Diseases
|
Disease or Syndrome
|
269
|
83
|
0.100 |
None |
|
0 |
|
|
|
Hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
305
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
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 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Hyperinsulinism
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
620
|
64
|
0.100 |
None |
|
0 |
|
|
|
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|