Congenital scoliosis
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
21
|
7
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Mesomelic dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
1
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Deformity of bone
|
group |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
17
|
2
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Mullerian aplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
10
|
|
0.010 |
None |
< 0.001 |
1 |
|
2011 |
2011 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Esophageal atresia with or without tracheoesophageal fistula
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
19
|
12
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Non-obstructive azoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
168
|
88
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
ESTROGEN RESISTANCE
|
disease |
|
Disease or Syndrome
|
30
|
7
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Isolated somatotropin deficiency
|
disease |
|
Disease or Syndrome
|
168
|
27
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Melanocytic nevus of skin
|
disease |
Neoplasms
|
Neoplastic Process
|
103
|
3
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Chromosome 2q37 deletion syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Aromatase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
6
|
13
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Patellar aplasia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
17
|
3
|
0.110 |
None |
1.000 |
1 |
|
2002 |
2002 |
SHOX-related short stature
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Timothy syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases
|
Disease or Syndrome
|
32
|
9
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Rokitansky Kuster Hauser syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
27
|
3
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Primary hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
80
|
6
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Becker Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
86
|
34
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Short forearm
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Irido-corneo-trabecular dysgenesis (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
35
|
12
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
85
|
187
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
72
|
16
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |