Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.030 |
None |
1.000 |
3 |
|
2002 |
2016 |
Hereditary hemochromatosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
254
|
56
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2012 |
Short extremities
|
phenotype |
|
Congenital Abnormality
|
38
|
10
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2010 |
Tooth Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Anatomical Abnormality
|
54
|
2
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2017 |
Endocardial Cushion Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
71
|
4
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Human papilloma virus infection
|
disease |
Infections
|
Disease or Syndrome
|
429
|
42
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Chondrodysplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
71
|
1
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
ATRIOVENTRICULAR CANAL DEFECT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Anatomical Abnormality
|
55
|
14
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Heterotaxy Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
39
|
8
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Uranostaphyloschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
190
|
75
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
295
|
70
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
POLYDACTYLY, POSTAXIAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
61
|
7
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Neck Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
29
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.310 |
None |
1.000 |
1 |
|
2016 |
2016 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Dysostoses
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
1
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Dental Enamel Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Disease or Syndrome
|
72
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Prominent antihelix
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Short palm
|
phenotype |
|
Finding
|
110
|
13
|
0.100 |
None |
|
0 |
|
|
|
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
20
|
3
|
0.100 |
None |
|
0 |
|
|
|
Dilatation of ureter
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
72
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short distal phalanx of finger
|
phenotype |
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic toenails
|
phenotype |
|
Finding
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|