Specific granule deficiency
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
11
|
6
|
0.600 |
None |
1.000 |
2 |
3
|
2017 |
2017 |
SPECIFIC GRANULE DEFICIENCY 2
|
disease |
|
Disease or Syndrome
|
2
|
3
|
0.600 |
limited |
1.000 |
1 |
3
|
2017 |
2017 |
Neutropenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
389
|
97
|
0.400 |
None |
1.000 |
1 |
|
2017 |
2017 |
SPECIFIC GRANULE DEFICIENCY 1
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Myeloid Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
385
|
7
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Leukemia, Monocytic, Chronic
|
disease |
Neoplasms
|
Neoplastic Process
|
18
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Vital capacity
|
phenotype |
|
Clinical Attribute
|
430
|
746
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Pediatric failure to thrive
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
Disease or Syndrome
|
166
|
122
|
0.100 |
None |
|
0 |
3
|
|
|
Intractable diarrhea
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
13
|
3
|
0.100 |
None |
|
0 |
3
|
|
|
Recurrent otitis media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
120
|
11
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the pinna
|
phenotype |
|
Finding
|
85
|
9
|
0.100 |
None |
|
0 |
|
|
|
Delayed separation of umbilical cord
|
phenotype |
|
Pathologic Function
|
1
|
3
|
0.100 |
None |
|
0 |
3
|
|
|
Sandal gap
|
phenotype |
|
Finding
|
62
|
6
|
0.100 |
None |
|
0 |
|
|
|
Absent neutrophil specific granules
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
MYELODYSPLASTIC SYNDROME
|
group |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1033
|
95
|
0.100 |
None |
|
0 |
|
|
|
Myelodysplasia, CTCAE
|
phenotype |
|
Finding
|
68
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent bacterial infection
|
phenotype |
Infections
|
Finding
|
69
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Finding
|
62
|
11
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Hirsutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
88
|
17
|
0.100 |
None |
|
0 |
|
|
|
Myelodysplasia
|
disease |
|
Congenital Abnormality
|
181
|
4
|
0.100 |
None |
|
0 |
|
|
|
Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
632
|
63
|
0.100 |
None |
|
0 |
|
|
|
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
845
|
61
|
0.100 |
None |
|
0 |
|
|
|
Ear Inflammation
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
12
|
2
|
0.100 |
None |
|
0 |
2
|
|
|