Duodenal atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Tethered Cord Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
41
|
2
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Exencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
47
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Narrow nasal bridge
|
phenotype |
|
Finding
|
47
|
2
|
0.100 |
None |
|
0 |
|
|
|
Trigonocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
52
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hypernatremia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
59
|
3
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
PREMATURE CENTROMERE DIVISION
|
disease |
|
Disease or Syndrome
|
66
|
2
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
pathologic fistula
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
71
|
8
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Panhypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
73
|
23
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Tented upper lip vermilion
|
phenotype |
|
Finding
|
79
|
8
|
0.100 |
None |
|
0 |
|
|
|
Orbital separation diminished
|
phenotype |
|
Finding
|
89
|
11
|
0.100 |
None |
|
0 |
|
|
|
Congenital anomaly of brain
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
|
Congenital Abnormality
|
103
|
7
|
0.050 |
None |
1.000 |
5 |
|
1998 |
2014 |
Choanal Atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
104
|
7
|
0.100 |
None |
|
0 |
|
|
|
Myxoid cyst
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
106
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Narrow forehead
|
phenotype |
|
Finding
|
106
|
20
|
0.100 |
None |
|
0 |
|
|
|
Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
109
|
45
|
0.500 |
None |
1.000 |
37 |
3
|
1998 |
2020 |
Ambiguous Genitalia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
109
|
14
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of kidneys syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
110
|
|
0.100 |
None |
|
0 |
|
|
|
Synophrys
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
111
|
23
|
0.100 |
None |
|
0 |
|
|
|
Congenital anomaly of face
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
114
|
7
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
EMG: myopathic abnormalities
|
phenotype |
Musculoskeletal Diseases; Nervous System Diseases
|
Pathologic Function
|
115
|
16
|
0.100 |
None |
|
0 |
|
|
|
Congenital defects
|
group |
|
Congenital Abnormality
|
126
|
6
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Broad forehead
|
phenotype |
|
Finding
|
133
|
13
|
0.100 |
None |
|
0 |
|
|
|
Dandy-Walker Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
137
|
9
|
0.040 |
None |
1.000 |
4 |
|
2002 |
2015 |
Congenital coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
148
|
1
|
0.100 |
None |
|
0 |
|
|
|