Reduced bone mineral density
|
phenotype |
|
Finding
|
76
|
2
|
0.100 |
None |
|
0 |
|
|
|
Episcleritis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Exophthalmos
|
disease |
Eye Diseases
|
Disease or Syndrome
|
225
|
12
|
0.100 |
None |
|
0 |
|
|
|
Hernia of abdominal wall
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
760
|
67
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Polydipsia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
61
|
5
|
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 |
|
|
|
Headache
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
338
|
75
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the genital system
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
36
|
4
|
0.100 |
None |
|
0 |
|
|
|
Pleural effusion disorder
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
227
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Hyperhidrosis disorder
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
114
|
7
|
0.100 |
None |
|
0 |
|
|
|
Retrobulbar Neuritis
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Skin Papule
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
74
|
|
0.100 |
None |
|
0 |
|
|
|
Broad foot
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
68
|
1
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Dehydration
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
295
|
6
|
0.100 |
None |
|
0 |
|
|
|
Progressive sensorineural hearing impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
78
|
28
|
0.100 |
None |
|
0 |
|
|
|
Cranial nerve palsies
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
81
|
1
|
0.100 |
None |
|
0 |
|
|
|
Conjunctival hyperemia
|
phenotype |
Eye Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed Puberty
|
phenotype |
Endocrine System Diseases
|
Pathologic Function
|
196
|
21
|
0.100 |
None |
|
0 |
|
|
|
CUI: |
C0013604 |
Disease: |
Edema
|
Edema
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
126
|
1
|
0.100 |
None |
|
0 |
|
|
|