TOWNES-BROCKS SYNDROME 2
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
limited |
1.000 |
3 |
|
2009 |
2017 |
Spina bifida of cervical region
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Rectoperineal fistula
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the 3rd toe
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Sternal cleft
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the tragus
|
phenotype |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Townes syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
9
|
0.510 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Congenital urethral valve
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Bifid uterus
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of toe
|
disease |
|
Congenital Abnormality
|
8
|
2
|
0.100 |
None |
|
0 |
|
|
|
Crossed fused renal ectopia
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
disease |
|
Finding
|
11
|
30
|
0.300 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Sirenomelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Partial duplication of thumb phalanx
|
disease |
|
Anatomical Abnormality
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Rectovaginal Fistula
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Broad hallux phalanx
|
disease |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Leg Length Inequality
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Finding
|
27
|
6
|
0.100 |
None |
|
0 |
|
|
|
Abnormal vertebral morphology
|
phenotype |
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Bifid scrotum
|
disease |
|
Congenital Abnormality
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Ulnar deviation of the fingers
|
phenotype |
|
Finding
|
31
|
|
0.100 |
None |
|
0 |
|
|
|
Occipital Encephalocele
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
33
|
9
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Anteriorly placed anus
|
phenotype |
|
Finding
|
34
|
5
|
0.100 |
None |
|
0 |
|
|
|
Uterine Anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Craniorachischisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
38
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Abnormality of pulmonary valve
|
disease |
|
Finding
|
40
|
|
0.100 |
None |
|
0 |
|
|
|