Pallor
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
124
|
4
|
0.100 |
None |
|
0 |
|
|
|
Chronic active hepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
122
|
34
|
0.100 |
None |
|
0 |
|
|
|
Visual field constriction
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
57
|
1
|
0.100 |
None |
|
0 |
|
|
|
Reduced visual acuity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
147
|
10
|
0.100 |
None |
|
0 |
|
|
|
Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
632
|
63
|
0.100 |
None |
|
0 |
|
|
|
X-linked Adrenal Hypoplasia
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
57
|
70
|
0.300 |
strong |
|
0 |
|
|
|
Visual Impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
422
|
|
0.100 |
None |
|
0 |
|
|
|
Corneal stromal opacities
|
phenotype |
Eye Diseases
|
Finding
|
46
|
|
0.100 |
None |
|
0 |
|
|
|
Testicular hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
50
|
1
|
0.100 |
None |
|
0 |
|
|
|
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA
|
disease |
Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.400 |
None |
|
0 |
2
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of spleen
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
80
|
6
|
0.100 |
None |
|
0 |
|
|
|
hypopigmented skin patch
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
123
|
2
|
0.100 |
None |
|
0 |
|
|
|
Decreased circulating aldosterone level
|
phenotype |
Immune System Diseases; Endocrine System Diseases
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased circulating parathyroid hormone level
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Cholelithiasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
252
|
90
|
0.100 |
None |
|
0 |
|
|
|
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.100 |
None |
|
0 |
|
|
|
Cerebral calcification
|
phenotype |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Finding
|
103
|
8
|
0.100 |
None |
|
0 |
|
|
|
Autoimmune state
|
phenotype |
|
Pathologic Function
|
70
|
|
0.100 |
None |
|
0 |
|
|
|
Increased circulating cortisol level
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital adrenal hyperplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
87
|
36
|
0.100 |
None |
|
0 |
|
|
|
Female hypogonadism syndrome
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Adrenal hyperplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Endocrine System Diseases
|
Disease or Syndrome
|
33
|
|
0.100 |
None |
|
0 |
|
|
|
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the cerebral vasculature
|
disease |
|
Anatomical Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|