Flatfoot
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
285
|
38
|
0.100 |
None |
|
0 |
|
|
|
Hallux Valgus
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
61
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the zygomatic bone
|
disease |
|
Anatomical Abnormality
|
29
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed CNS myelination
|
disease |
|
Anatomical Abnormality
|
21
|
4
|
0.100 |
None |
|
0 |
|
|
|
Underfolded superior helices
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
15 |
1
|
1990 |
2016 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
15 |
1
|
1990 |
2016 |
Congenital neurologic anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
84
|
4
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Congenital pectus excavatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
272
|
36
|
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 |
|
|
|
Macrotia
|
disease |
|
Congenital Abnormality
|
188
|
18
|
0.100 |
None |
|
0 |
|
|
|
Congenital anomaly of neck
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Stahl ear
|
disease |
|
Congenital Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
29
|
1.000 |
definitive |
1.000 |
58 |
29
|
2004 |
2020 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.180 |
None |
1.000 |
8 |
|
2006 |
2018 |
Hyperthyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
279
|
27
|
0.070 |
None |
0.857 |
7 |
|
2007 |
2018 |
Thyroid Diseases
|
group |
Endocrine System Diseases
|
Disease or Syndrome
|
230
|
26
|
0.070 |
None |
1.000 |
7 |
|
2006 |
2019 |
Generalized Thyroid Hormone Resistance
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
45
|
34
|
0.060 |
None |
1.000 |
6 |
|
2007 |
2018 |
Lesion of brain
|
group |
|
Disease or Syndrome
|
188
|
9
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2017 |
Mental Retardation, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
141
|
13
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2010 |
Thyroid Hormone Resistance Syndrome
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
25
|
5
|
0.030 |
None |
1.000 |
3 |
|
2007 |
2011 |
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
|
0.020 |
None |
0.500 |
2 |
|
2006 |
2014 |
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.120 |
None |
1.000 |
2 |
|
2009 |
2015 |
Thyrotoxicosis
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
37
|
7
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
420
|
15
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |