Abnormal cellular phenotype
|
phenotype |
|
Cell or Molecular Dysfunction
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal trabecular bone morphology
|
disease |
|
Anatomical Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of hair texture
|
disease |
|
Finding
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the dentition
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
140
|
16
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the pinna
|
phenotype |
|
Finding
|
85
|
9
|
0.100 |
None |
|
0 |
|
|
|
Absence of pubertal development
|
phenotype |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Absent eyelashes
|
phenotype |
|
Congenital Abnormality
|
21
|
1
|
0.100 |
None |
|
0 |
|
|
|
Acanthosis Nigricans
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
64
|
11
|
0.100 |
None |
|
0 |
|
|
|
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.100 |
None |
|
0 |
|
|
|
Acro-Osteolysis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
1
|
0.310 |
None |
1.000 |
3 |
|
2003 |
2010 |
Acroosteolysis of distal phalanges (feet)
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Actinic keratosis
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
136
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Acute Promyelocytic Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
651
|
21
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Adrenal hypoplasia
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
491
|
375
|
0.110 |
None |
1.000 |
1 |
|
2004 |
2004 |
alpha-Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
86
|
37
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
alpha^+^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
92
|
16
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Aminoaciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
68
|
1
|
0.100 |
None |
|
0 |
|
|
|
Aneurysm of ascending aorta
|
phenotype |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
34
|
16
|
0.100 |
None |
|
0 |
|
|
|
Angina Pectoris
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Sign or Symptom
|
139
|
65
|
0.100 |
None |
|
0 |
|
|
|
Ankylosis
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia involving the nose
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the clavicles
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the earlobes
|
disease |
|
Congenital Abnormality
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the eyebrow
|
phenotype |
|
Finding
|
52
|
|
0.100 |
None |
|
0 |
|
|
|