Urogenital Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
42
|
3
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Autosomal dominant retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
85
|
65
|
0.010 |
None |
1.000 |
1 |
1
|
2006 |
2006 |
Cutis laxa, x-linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
22
|
10
|
0.100 |
None |
|
0 |
10
|
|
|
Phosphoglycerate Kinase 1 Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
18
|
0.770 |
None |
1.000 |
17 |
14
|
1980 |
2019 |
Deficiency of phosphoglycerate kinase
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
6
|
0.340 |
None |
1.000 |
5 |
2
|
1992 |
2019 |
Menkes Kinky Hair Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
99
|
0.120 |
None |
1.000 |
3 |
99
|
1991 |
2011 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.130 |
None |
1.000 |
3 |
2
|
2010 |
2019 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.020 |
None |
1.000 |
2 |
1
|
1991 |
2019 |
Anemia, Hemolytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
154
|
31
|
0.120 |
None |
1.000 |
2 |
|
2006 |
2019 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
1410
|
80
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2019 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Lupus Vulgaris
|
disease |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
526
|
44
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Lupus Erythematosus, Discoid
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
552
|
46
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Lupus Erythematosus, Systemic
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
1883
|
1172
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Mucocutaneous Lymph Node Syndrome
|
disease |
Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
370
|
195
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hereditary spherocytosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
53
|
13
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Wiskott-Aldrich Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
95
|
34
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Christ-Siemens-Touraine syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
45
|
78
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
Rhegmatogenous retinal detachment
|
disease |
Eye Diseases
|
Disease or Syndrome
|
47
|
8
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |