Amputated structure (morphologic abnormality)
|
phenotype |
Wounds and Injuries
|
Acquired Abnormality
|
94
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal cortical bone morphology
|
disease |
|
Anatomical Abnormality
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Increased rate of premature chromosome condensation
|
phenotype |
|
Cell or Molecular Dysfunction
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Diastolic blood pressure
|
phenotype |
|
Clinical Attribute
|
507
|
1037
|
0.100 |
None |
1.000 |
2 |
2
|
2017 |
2018 |
Systolic Pressure
|
phenotype |
|
Clinical Attribute
|
843
|
1931
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.400 |
None |
0.941 |
17 |
2
|
2002 |
2019 |
Primary microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
39
|
9
|
0.400 |
strong |
1.000 |
14 |
|
2002 |
2018 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2006 |
Nonnuclear polymorphic congenital cataract
|
disease |
|
Congenital Abnormality
|
71
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.100 |
None |
|
0 |
|
|
|
Unilateral agenesis of kidney
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
69
|
7
|
0.100 |
None |
|
0 |
|
|
|
Pachygyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
129
|
8
|
0.100 |
None |
|
0 |
|
|
|
Tonometry
|
phenotype |
|
Diagnostic Procedure
|
206
|
573
|
0.100 |
None |
1.000 |
3 |
1
|
2018 |
2018 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Autosomal Recessive Primary Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
33
|
99
|
0.500 |
None |
1.000 |
10 |
3
|
2000 |
2018 |
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
19
|
0.760 |
strong |
1.000 |
9 |
15
|
2002 |
2014 |
Idiopathic pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
776
|
24
|
0.060 |
None |
1.000 |
6 |
|
2013 |
2019 |
anaphylaxis
|
phenotype |
Immune System Diseases
|
Disease or Syndrome
|
180
|
4
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Otitis Media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
175
|
8
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2014 |
Right Ventricular Hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
160
|
6
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2014 |
Infectious Otitis Media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
146
|
6
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2014 |
Bloom Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
155
|
132
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Bronchopulmonary Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Disease or Syndrome
|
423
|
112
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |