Poikiloderma with Neutropenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
25
|
24
|
0.800 |
None |
1.000 |
23 |
24
|
2010 |
2018 |
Skin Diseases, Genetic
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
57
|
6
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2017 |
Dyskeratosis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
58
|
146
|
0.550 |
None |
1.000 |
7 |
|
2010 |
2016 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
MYELODYSPLASTIC SYNDROME
|
group |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1033
|
95
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Myelodysplastic-Myeloproliferative Diseases
|
group |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
38
|
1
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Myelodysplasia
|
disease |
|
Congenital Abnormality
|
181
|
4
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Dermatologic disorders
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
617
|
21
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Leukopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
440
|
153
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2012 |
Rothmund-Thomson syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
35
|
12
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2012 |
Neutropenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
389
|
97
|
0.120 |
None |
1.000 |
2 |
|
2010 |
2012 |
Poikiloderma
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
20
|
2
|
0.120 |
None |
1.000 |
2 |
1
|
2010 |
2012 |
Gingivitis
|
disease |
Infections; Stomatognathic Diseases
|
Disease or Syndrome
|
152
|
3
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Dystrophia unguium
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
81
|
9
|
0.110 |
None |
1.000 |
1 |
|
2012 |
2012 |
Keratoderma, Palmoplantar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
165
|
19
|
0.110 |
None |
1.000 |
1 |
|
2012 |
2012 |
Pachyonychia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Multiple Chronic Conditions
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
929
|
42
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Infusion pump Alert priority PN
|
phenotype |
|
Finding
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
2010 |
2010 |
Cellular immunodeficiency
|
phenotype |
Immune System Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Bone marrow hypocellularity
|
phenotype |
|
Finding
|
64
|
5
|
0.100 |
None |
|
0 |
|
|
|
Aplastic/hypoplastic toenail
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Recurrent pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Finding
|
62
|
11
|
0.100 |
None |
|
0 |
|
|
|
Midface retrusion
|
phenotype |
|
Finding
|
228
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of coagulation
|
phenotype |
|
Finding
|
59
|
15
|
0.100 |
None |
|
0 |
|
|
|