NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
disease |
|
Finding
|
11
|
30
|
0.400 |
None |
1.000 |
2 |
1
|
2004 |
2019 |
Kidney problem
|
phenotype |
|
Sign or Symptom
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.700 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Abnormal vertebral morphology
|
phenotype |
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Asymmetry of spinal facet joints
|
phenotype |
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Substance abuse problem
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
185
|
20
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
familial chordoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Neoplastic Process
|
2
|
|
0.300 |
strong |
1.000 |
2 |
|
2009 |
2012 |
Sacral dimple
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
69
|
11
|
0.100 |
None |
|
0 |
|
|
|
Anorectal atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
304
|
122
|
0.310 |
None |
1.000 |
1 |
|
2002 |
2002 |
Spina bifida aperta of cervical spine
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Anencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
59
|
10
|
0.100 |
None |
|
0 |
|
|
|
Diastematomyelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
|
0 |
|
|
|
Meningomyelocele
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
89
|
27
|
0.100 |
None |
|
0 |
|
|
|
Neurenteric Cyst
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
29
|
|
0.300 |
None |
|
0 |
|
|
|
Spina Bifida Occulta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
76
|
6
|
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 |
|
0 |
|
|
|
Iniencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
|
0 |
|
|
|
Craniorachischisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
38
|
|
0.300 |
None |
|
0 |
|
|
|
Exencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
47
|
|
0.300 |
None |
|
0 |
|
|
|
Spinal Cord Myelodysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
|
0 |
|
|
|
Acrania
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
31
|
|
0.300 |
None |
|
0 |
|
|
|
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Disease or Syndrome
|
10
|
4
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Goiter
|
phenotype |
Endocrine System Diseases
|
Disease or Syndrome
|
142
|
19
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |