SPECIFIC GRANULE DEFICIENCY 2
|
disease |
|
Disease or Syndrome
|
1
|
|
0.600 |
limited |
1.000 |
0 |
3
|
2017 |
2017 |
Specific granule deficiency
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
|
0.600 |
None |
1.000 |
0 |
3
|
2017 |
2017 |
Neutropenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
118
|
|
0.400 |
None |
1.000 |
0 |
|
2017 |
2017 |
Vital capacity
|
phenotype |
|
Clinical Attribute
|
430
|
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Abnormality of the pinna
|
phenotype |
|
Finding
|
85
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed separation of umbilical cord
|
phenotype |
|
Pathologic Function
|
1
|
|
0.100 |
None |
|
0 |
3
|
|
|
Sandal gap
|
phenotype |
|
Finding
|
62
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent bacterial infection
|
phenotype |
Infections
|
Finding
|
68
|
|
0.100 |
None |
|
0 |
|
|
|
Myelodysplasia, CTCAE
|
phenotype |
|
Finding
|
68
|
|
0.100 |
None |
|
0 |
|
|
|
Pediatric failure to thrive
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
Disease or Syndrome
|
89
|
|
0.100 |
None |
|
0 |
3
|
|
|
MYELODYSPLASTIC SYNDROME
|
group |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
77
|
|
0.100 |
None |
|
0 |
|
|
|
Absent neutrophil specific granules
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent otitis media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
100
|
|
0.100 |
None |
|
0 |
|
|
|
Intractable diarrhea
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
8
|
|
0.100 |
None |
|
0 |
3
|
|
|
Recurrent pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Finding
|
62
|
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
734
|
|
0.100 |
None |
|
0 |
|
|
|
Hirsutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Myelodysplasia
|
disease |
|
Congenital Abnormality
|
68
|
|
0.100 |
None |
|
0 |
|
|
|
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
212
|
|
0.100 |
None |
|
0 |
|
|
|
Ear Inflammation
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
2
|
|
|
Pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
109
|
|
0.100 |
None |
|
0 |
3
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
297
|
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
|
0.100 |
None |
|
0 |
|
|
|
Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
207
|
|
0.100 |
None |
|
0 |
|
|
|