Hernia, Inguinal
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
225
|
21
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary artery stenosis
|
disease |
Cardiovascular Diseases
|
Anatomical Abnormality
|
36
|
2
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
384
|
96
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Spina Bifida Occulta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
76
|
6
|
0.100 |
None |
|
0 |
|
|
|
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
209
|
37
|
0.700 |
None |
1.000 |
3 |
1
|
2009 |
2019 |
Amyloidosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
694
|
93
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
305
|
24
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Syphilis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
|
Disease or Syndrome
|
80
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Early syphilis, unspecified
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Fukuyama Type Congenital Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
35
|
29
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
11
|
1
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Primary syphilis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Autoinflammatory disorder
|
disease |
|
Disease or Syndrome
|
60
|
4
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
X-linked intellectual disability Van Esch type
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
5
|
0.100 |
None |
1.000 |
1 |
5
|
2019 |
2019 |
Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1135
|
15
|
0.100 |
None |
|
0 |
|
|
|
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.100 |
None |
|
0 |
|
|
|
Hypohidrosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
69
|
1
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Urethral Stenosis
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
41
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital atresia of pulmonary valve
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
11
|
3
|
0.100 |
None |
|
0 |
|
|
|