Anus, Imperforate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
139
|
9
|
0.100 |
None |
|
0 |
|
|
|
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Gonadal Dysgenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
53
|
6
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Gonadal Dysgenesis, 46,XY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
29
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Swyer Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
17
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Turner Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
162
|
21
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Dermatitis, Atopic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
751
|
232
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Hypodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
218
|
48
|
0.100 |
None |
|
0 |
|
|
|
Cholangitis, Sclerosing
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
188
|
276
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Ulcerative Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1458
|
827
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1382
|
1147
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Pyloric Stenosis
|
phenotype |
Digestive System Diseases
|
Pathologic Function
|
121
|
4
|
0.100 |
None |
|
0 |
|
|
|
Male infertility
|
phenotype |
Male Urogenital Diseases
|
Disease or Syndrome
|
516
|
146
|
0.100 |
None |
|
0 |
|
|
|
Teratozoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
53
|
1
|
0.100 |
None |
|
0 |
|
|
|
Ankylosing spondylitis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
710
|
609
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Spade-like hand
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Diastasis recti
|
disease |
Musculoskeletal Diseases; Wounds and Injuries
|
Disease or Syndrome
|
22
|
1
|
0.100 |
None |
|
0 |
|
|
|
Sleeplessness
|
phenotype |
Nervous System Diseases; Mental Disorders
|
Sign or Symptom
|
174
|
30
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Small for gestational age fetus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
156
|
|
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 |
|
|
|
Small for gestational age (disorder)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
181
|
34
|
0.100 |
None |
|
0 |
|
|
|
Psoriasis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1308
|
705
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Dry skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Sign or Symptom
|
159
|
12
|
0.100 |
None |
|
0 |
|
|
|