TOWNES-BROCKS SYNDROME 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
6
|
0.600 |
None |
1.000 |
6 |
6
|
1999 |
2015 |
Townes-Brocks-Branchiootorenal-Like 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
|
1
|
1
|
0.300 |
None |
1.000 |
2 |
1
|
2003 |
2008 |
Pseudoepiphyses of second metacarpal
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
2-4 finger syndactyly
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Satyr ear
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Middle Lobe Syndrome
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Nephrosis and Glomerulosclerosis
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Rectoperineal fistula
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Stahl ear
|
disease |
|
Congenital Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the 3rd toe
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Dermoid choristoma of eye proper
|
disease |
Eye Diseases
|
Neoplastic Process
|
3
|
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2008 |
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
|
0.900 |
strong |
0.929 |
28 |
8
|
1998 |
2018 |
3-4 toe syndactyly
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
3-4 finger syndactyly
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Metatarsal synostosis
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
|
|
|
Bilateral renal hypoplasia
|
disease |
|
Congenital Abnormality
|
8
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Clinodactyly of toe
|
disease |
|
Congenital Abnormality
|
8
|
2
|
0.100 |
None |
|
0 |
|
|
|
Overfolding of the superior helices
|
phenotype |
|
Finding
|
10
|
7
|
0.100 |
None |
|
0 |
|
|
|
Partial duplication of thumb phalanx
|
disease |
|
Anatomical Abnormality
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of the 5th toe
|
disease |
|
Anatomical Abnormality
|
13
|
4
|
0.100 |
None |
|
0 |
|
|
|
Branchio-Oto-Renal Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Rectovaginal Fistula
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|