Age related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
685
|
663
|
0.100 |
None |
|
0 |
|
|
|
Small testicle
|
phenotype |
|
Finding
|
129
|
|
0.100 |
None |
|
0 |
|
|
|
Absence of subcutaneous fat
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Conjunctival telangiectasis
|
disease |
|
Disease or Syndrome
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Aminoaciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
68
|
1
|
0.100 |
None |
|
0 |
|
|
|
Generalized seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
13
|
0.100 |
None |
|
0 |
|
|
|
Action Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
95
|
2
|
0.100 |
None |
|
0 |
|
|
|
Extrapyramidal sign
|
phenotype |
|
Sign or Symptom
|
116
|
7
|
0.100 |
None |
|
0 |
|
|
|
Pyramidal sign
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
155
|
10
|
0.100 |
None |
|
0 |
|
|
|
Koilonychia
|
phenotype |
Skin and Connective Tissue Diseases
|
Sign or Symptom
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the dentition
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
140
|
16
|
0.100 |
None |
|
0 |
|
|
|
Longitudinal split nail
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Corneal stromal opacities
|
phenotype |
Eye Diseases
|
Finding
|
46
|
|
0.100 |
None |
|
0 |
|
|
|
Poikiloderma
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
20
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Photosensitivity of skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Pathologic Function
|
91
|
3
|
0.100 |
None |
|
0 |
|
|
|
Ankyloblepharon
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Anatomical Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
|
0 |
|
|
|
Recurrent bronchopulmonary infections
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Coarse hair
|
phenotype |
|
Finding
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|
Peripheral demyelinating neuropathy
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
95
|
14
|
0.100 |
None |
|
0 |
|
|
|
Microcornea
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
10
|
0.100 |
None |
|
0 |
|
|
|
Congenital ankyloblepharon
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of mandible relative to maxilla
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired social reciprocity
|
disease |
|
Mental or Behavioral Dysfunction
|
6
|
|
0.100 |
None |
|
0 |
|
|
|