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 |
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 |
Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
13
|
0.400 |
strong |
1.000 |
1 |
|
1999 |
1999 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.350 |
None |
1.000 |
6 |
|
2002 |
2019 |
Limb Deformities, Congenital
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
59
|
4
|
0.310 |
None |
1.000 |
3 |
|
1998 |
2007 |
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 |
Abnormality of radial ray
|
phenotype |
|
Finding
|
34
|
|
0.300 |
strong |
|
0 |
|
|
|
Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
84
|
|
0.300 |
limited |
|
0 |
|
|
|
Renal glomerular disease
|
group |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
221
|
7
|
0.300 |
limited |
|
0 |
|
|
|
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.300 |
strong |
|
0 |
|
|
|
Renal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
95
|
3
|
0.120 |
None |
1.000 |
2 |
|
2000 |
2007 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Renal Cell Dysplasia
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
81
|
3
|
0.110 |
None |
1.000 |
1 |
|
2000 |
2000 |
Congenital ear anomaly NOS (disorder)
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
5
|
0.110 |
None |
1.000 |
1 |
|
2007 |
2007 |
C-reactive protein measurement
|
phenotype |
|
Laboratory Procedure
|
135
|
624
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Red Blood Cell Count measurement
|
phenotype |
|
Laboratory Procedure
|
717
|
1599
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Fundus coloboma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
57
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of penis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
148
|
1
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of toe
|
disease |
|
Congenital Abnormality
|
8
|
2
|
0.100 |
None |
|
0 |
|
|
|
Preauricular dimple
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
40
|
5
|
0.100 |
None |
|
0 |
|
|
|
Broad hallux phalanx
|
disease |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Bifid scrotum
|
disease |
|
Congenital Abnormality
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|