Redundant skin
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Pathologic Function
|
48
|
2
|
0.100 |
None |
|
0 |
|
|
|
Reduced subcutaneous adipose tissue
|
phenotype |
|
Finding
|
21
|
1
|
0.100 |
None |
|
0 |
|
|
|
Reduced number of teeth
|
phenotype |
|
Finding
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|
Recurrent aspiration pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
413
|
70
|
0.100 |
None |
|
0 |
|
|
|
Protrusion of tongue
|
phenotype |
|
Finding
|
27
|
4
|
0.100 |
None |
|
0 |
|
|
|
Prothrombin G20210A mutation
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
20
|
9
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Progeroid Syndrome, Congenital, Petty Type
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
2
|
0.620 |
None |
1.000 |
4 |
2
|
2017 |
2019 |
Prematurely aged appearance
|
phenotype |
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
|
|
|
Pneumothorax
|
phenotype |
Respiratory Tract Diseases
|
Disease or Syndrome
|
69
|
3
|
0.100 |
None |
|
0 |
|
|
|
Platyspondyly
|
phenotype |
|
Finding
|
93
|
3
|
0.100 |
None |
|
0 |
|
|
|
Petty Laxova Wiedemann syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Periventricular Nodular Heterotopia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
45
|
29
|
0.100 |
None |
|
0 |
|
|
|
Penis agenesis
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
217
|
11
|
0.100 |
None |
|
0 |
|
|
|
Patent ductus arteriosus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
510
|
56
|
0.100 |
None |
|
0 |
|
|
|
Orbital separation excessive
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
590
|
77
|
0.100 |
None |
|
0 |
|
|
|
Oligohydramnios
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
129
|
21
|
0.100 |
None |
|
0 |
|
|
|
Oligodontia
|
disease |
|
Congenital Abnormality
|
62
|
34
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Neutrophil count (procedure)
|
phenotype |
|
Laboratory Procedure
|
145
|
234
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Nail abnormality
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|