Spina Bifida, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
1998 |
1998 |
Spina Bifida, Folate-Sensitive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
1998 |
1998 |
Asymmetry of spinal facet joints
|
phenotype |
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Neural tube defects X-linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.200 |
None |
1.000 |
1 |
|
1998 |
1998 |
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 |
|
2011 |
2011 |
Neural tube defect, folate-sensitive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
8
|
2
|
0.200 |
None |
1.000 |
1 |
|
1998 |
1998 |
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
disease |
|
Finding
|
11
|
30
|
0.400 |
None |
1.000 |
1 |
2
|
2010 |
2010 |
Status Dysraphicus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
12
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Spastic cerebral palsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Rachischisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Sacral agenesis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
15
|
1
|
0.400 |
None |
|
0 |
|
|
|
Diastematomyelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
1990 |
1990 |
Iniencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
1990 |
1990 |
Spinal Cord Myelodysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
1990 |
1990 |
Neurenteric Cyst
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
29
|
|
0.300 |
None |
1.000 |
1 |
|
1990 |
1990 |
Acrania
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
31
|
|
0.300 |
None |
1.000 |
1 |
|
1990 |
1990 |
Craniorachischisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
38
|
|
0.350 |
None |
0.833 |
6 |
|
1990 |
2015 |
Multiple lipomata
|
disease |
Neoplasms
|
Neoplastic Process
|
38
|
|
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 |
|
1990 |
1990 |
Exencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
47
|
|
0.300 |
None |
1.000 |
1 |
|
1990 |
1990 |
Anencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
59
|
10
|
0.400 |
None |
1.000 |
1 |
|
2010 |
2010 |
Papillary craniopharyngioma
|
disease |
Neoplasms
|
Neoplastic Process
|
65
|
2
|
0.040 |
None |
1.000 |
4 |
|
2017 |
2018 |
Autosomal Recessive Polycystic Kidney Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
69
|
317
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Sacral dimple
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
69
|
11
|
0.100 |
None |
|
0 |
|
|
|
Refractive Errors
|
group |
Eye Diseases
|
Disease or Syndrome
|
71
|
75
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |