LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.600 |
None |
1.000 |
3 |
3
|
1998 |
2016 |
Cleft earlobe
|
disease |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Asymmetric, linear skin defects
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital anomaly of rectum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Vitritis
|
disease |
Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Ovotestis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Functional motor deficit
|
phenotype |
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
|
|
|
Chordee
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Histiocytoid Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
12
|
3
|
0.100 |
None |
|
0 |
|
|
|
Tricuspid Valve Prolapse
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
13
|
4
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of mandible
|
disease |
|
Congenital Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the anus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Overriding aorta
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Colpocephaly
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Chorioretinal dysplasia
|
disease |
|
Anatomical Abnormality
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the fallopian tube
|
phenotype |
|
Anatomical Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal nasolacrimal system morphology
|
disease |
|
Anatomical Abnormality
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
True Hermaphroditism (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Epispadias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Short lower third of face
|
phenotype |
|
Finding
|
33
|
3
|
0.100 |
None |
|
0 |
|
|
|
Retinal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
34
|
2
|
0.100 |
None |
|
0 |
|
|
|
Anteriorly placed anus
|
phenotype |
|
Finding
|
34
|
5
|
0.100 |
None |
|
0 |
|
|
|
Echolalia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormal eyelash morphology
|
phenotype |
|
Finding
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
Sclerocornea
|
disease |
Eye Diseases
|
Disease or Syndrome
|
42
|
3
|
0.100 |
None |
|
0 |
|
|
|