Meleda Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome; Congenital Abnormality
|
18
|
15
|
0.050 |
None |
0.800 |
5 |
|
2002 |
2006 |
Lung Diseases, Interstitial
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
144
|
0.050 |
None |
0.800 |
5 |
|
2017 |
2020 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2015 |
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Adult type dermatomyositis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
218
|
31
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2020 |
Dermatomyositis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
235
|
34
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2020 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2015 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2020 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2016 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2020 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2015 |
Dermatologic disorders
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
617
|
21
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Pancytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
253
|
15
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Polymyositis
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
183
|
22
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
23
|
240
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
ICHTHYOSIS--CHEEK--EYEBROW SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Erythrokeratoderma
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
10
|
1
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Idiopathic Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
803
|
63
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cavitation
|
disease |
|
Anatomical Abnormality
|
47
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Myositis
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
254
|
43
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |