Pelger-Huet Anomaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
25
|
7
|
1.000 |
strong |
0.944 |
18 |
6
|
2002 |
2019 |
HEM dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
5
|
0.800 |
strong |
0.933 |
15 |
5
|
1993 |
2019 |
Reynolds syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
1
|
0.710 |
strong |
1.000 |
2 |
1
|
2010 |
2013 |
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
moderate |
1.000 |
5 |
4
|
2003 |
2015 |
Mesomelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
27
|
4
|
0.400 |
strong |
1.000 |
1 |
|
2018 |
2018 |
Rhizomelia
|
disease |
|
Congenital Abnormality
|
57
|
6
|
0.400 |
strong |
1.000 |
1 |
|
2018 |
2018 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.400 |
strong |
1.000 |
1 |
|
2018 |
2018 |
Pseudo Pelger-Huet Anomaly
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Finding
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Lupus Erythematosus, Systemic
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
1883
|
1172
|
0.220 |
None |
1.000 |
2 |
|
1988 |
2016 |
Ichthyosis Vulgaris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome; Congenital Abnormality
|
10
|
18
|
0.200 |
None |
1.000 |
1 |
|
2007 |
2007 |
Systemic Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
979
|
287
|
0.110 |
None |
< 0.001 |
1 |
|
2009 |
2009 |
Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
316
|
5
|
0.110 |
None |
< 0.001 |
1 |
|
2009 |
2009 |
Hyposegmentation of neutrophil nuclei
|
phenotype |
|
Cell or Molecular Dysfunction
|
4
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Ulnar polydactyly of fingers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
92
|
11
|
0.100 |
None |
|
0 |
|
|
|
Defect of skull ossification
|
group |
|
Congenital Abnormality
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hydrops Fetalis, Non-Immune
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
22
|
0.100 |
None |
|
0 |
|
|
|
Islets of Langerhans hyperplasia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Stillbirth
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
23
|
2
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Lower limb hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
38
|
6
|
0.100 |
None |
|
0 |
|
|
|
Abnormal lung lobation
|
disease |
Respiratory Tract Diseases
|
Congenital Abnormality
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent otitis media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
120
|
11
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Diaphyseal thickening
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|