BIRBECK GRANULE DEFICIENCY
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.300 |
None |
1.000 |
2 |
1
|
2005 |
2006 |
Histiocytosis, Langerhans-Cell
|
disease |
Respiratory Tract Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
104
|
12
|
0.100 |
None |
0.833 |
12 |
|
2006 |
2020 |
Diphtheria
|
disease |
Infections
|
Disease or Syndrome
|
147
|
|
0.040 |
None |
1.000 |
4 |
|
2010 |
2018 |
Eczema
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
863
|
368
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2018 |
Indeterminate dendritic cell tumor
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
7
|
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2020 |
Dermatitis, Atopic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
751
|
232
|
0.030 |
None |
1.000 |
3 |
1
|
2014 |
2018 |
Chronic Obstructive Airway Disease
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
1428
|
852
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2018 |
Inflammatory Bowel Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1577
|
605
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2014 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2019 |
HIV Infections
|
group |
Infections; Immune System Diseases
|
Disease or Syndrome
|
807
|
142
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2007 |
Skin lesion
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
563
|
52
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Dermatitis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
496
|
16
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Waardenburg Anophthalmia Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
8
|
10
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Idiopathic Inflammatory Myopathies
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
106
|
4
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Oropharyngeal candidiasis
|
disease |
Infections
|
Disease or Syndrome
|
27
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cholestasis-edema syndrome, Norwegian type
|
disease |
Digestive System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Dryness of eye
|
phenotype |
Eye Diseases
|
Sign or Symptom
|
149
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Blastic plasmacytoid dendritic cell neoplasm
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
46
|
2
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Inflammatory dermatosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
382
|
6
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Human immunodeficiency virus (HIV) II infection category B1
|
disease |
|
Disease or Syndrome
|
985
|
56
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Nasopharyngeal carcinoma
|
disease |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Neoplastic Process
|
1553
|
320
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
HIV-1 infection
|
disease |
|
Disease or Syndrome
|
695
|
94
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |