MICROPHTHALMIA, ISOLATED 4 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
4 |
4
|
2007 |
2014 |
MULTIPLE SYNOSTOSES SYNDROME 4
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.610 |
strong |
1.000 |
3 |
2
|
2008 |
2018 |
LEBER CONGENITAL AMAUROSIS 17
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
1 |
4
|
2013 |
2013 |
Cervicomedullary schisis
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
|
disease |
|
Disease or Syndrome
|
2
|
3
|
0.600 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
Abnormal temporal bone morphology
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Leri pleonosteosis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Nanophthalmia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
< 0.001 |
1 |
|
2010 |
2010 |
Multiple synostosis syndrome
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Limited neck range of motion
|
phenotype |
|
Finding
|
5
|
2
|
0.100 |
None |
|
0 |
|
|
|
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
7
|
0.730 |
None |
1.000 |
7 |
4
|
1988 |
2013 |
Microphthalmia associated with colobomatous cyst
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Eye Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Abnormality of the shoulder
|
disease |
|
Anatomical Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal vertebral segmentation and fusion
|
disease |
|
Anatomical Abnormality
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Klippel-Feil Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
12
|
5
|
0.740 |
limited |
1.000 |
4 |
|
2008 |
2015 |
Jarcho-Levin syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
12
|
14
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Sacral agenesis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
15
|
1
|
0.300 |
None |
1.000 |
1 |
|
1988 |
1988 |
Abnormality of the cranial nerves
|
disease |
|
Anatomical Abnormality
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal sacrum morphology
|
disease |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital torticollis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Congenital Abnormality
|
19
|
6
|
0.100 |
None |
|
0 |
|
|
|
Ectopic anus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Tarsal Coalition
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
22
|
1
|
0.100 |
None |
|
0 |
|
|
|
Absent testes
|
phenotype |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital abnormal Synostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
25
|
7
|
0.020 |
None |
1.000 |
2 |
1
|
2016 |
2018 |
Radiculopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
25
|
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |