CATARACT 44
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
3 |
4
|
2015 |
2017 |
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
491
|
375
|
0.420 |
moderate |
1.000 |
3 |
|
2017 |
2019 |
HYPOTRICHOSIS 14
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.400 |
None |
1.000 |
1 |
5
|
2018 |
2018 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.320 |
moderate |
1.000 |
3 |
|
2017 |
2019 |
Hypotrichosis simplex
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
37
|
5
|
0.320 |
None |
1.000 |
2 |
|
2018 |
2019 |
Lipoidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
44
|
|
0.300 |
None |
1.000 |
2 |
|
2005 |
2006 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.300 |
moderate |
1.000 |
1 |
|
2017 |
2017 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.300 |
moderate |
1.000 |
1 |
|
2017 |
2017 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.300 |
moderate |
1.000 |
1 |
|
2017 |
2017 |
Chronic Q Fever
|
disease |
Infections
|
Disease or Syndrome
|
22
|
9
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Q Fever
|
disease |
Infections
|
Disease or Syndrome
|
26
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Coxiella burnetii Infection
|
disease |
Infections
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
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
|
0.300 |
moderate |
1.000 |
1 |
|
2017 |
2017 |
Acute Q fever
|
disease |
Infections
|
Disease or Syndrome
|
10
|
3
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.300 |
moderate |
1.000 |
1 |
|
2017 |
2017 |
Skin Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
106
|
16
|
0.300 |
moderate |
1.000 |
1 |
|
2017 |
2017 |
Congenital total cataract
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
16
|
|
0.300 |
None |
|
0 |
|
|
|
Hypotrichosis of the scalp
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Sparse body hair
|
phenotype |
|
Finding
|
57
|
|
0.100 |
None |
|
0 |
|
|
|
Unspecified visual loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Sign or Symptom
|
235
|
11
|
0.100 |
None |
|
0 |
|
|
|
Visual Impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
422
|
|
0.100 |
None |
|
0 |
|
|
|
Hypotrichosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
69
|
2
|
0.100 |
None |
|
0 |
|
|
|
Sparse and thin eyebrow
|
phenotype |
|
Finding
|
68
|
8
|
0.100 |
None |
|
0 |
|
|
|
Sparse eyelashes
|
phenotype |
|
Finding
|
60
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormal vision
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
115
|
6
|
0.100 |
None |
|
0 |
|
|
|