Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
1
|
0.700 |
strong |
1.000 |
1 |
1
|
2017 |
2017 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.210 |
None |
1.000 |
1 |
|
2017 |
2017 |
RETINITIS PIGMENTOSA 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
32
|
21
|
0.200 |
None |
|
0 |
|
|
|
Carcinoma of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2104
|
309
|
0.110 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
2 |
3
|
2019 |
2019 |
Albuminuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
76
|
59
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Systolic Pressure
|
phenotype |
|
Clinical Attribute
|
843
|
1931
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Central corneal thickness
|
phenotype |
|
Clinical Attribute
|
35
|
61
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Corneal Topography
|
phenotype |
|
Diagnostic Procedure
|
39
|
98
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Intelligence
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
645
|
2093
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Diverticular Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
83
|
88
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoautofluorescent retinal lesion
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Underdeveloped nasal alae
|
phenotype |
|
Congenital Abnormality
|
79
|
8
|
0.100 |
None |
|
0 |
|
|
|
Thick vermilion border
|
phenotype |
|
Finding
|
95
|
15
|
0.100 |
None |
|
0 |
|
|
|
Short metacarpal
|
phenotype |
|
Finding
|
66
|
7
|
0.100 |
None |
|
0 |
|
|
|
Short distal phalanx of finger
|
phenotype |
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
|
|
|
High anterior hairline
|
phenotype |
|
Finding
|
25
|
3
|
0.100 |
None |
|
0 |
|
|
|
Broad columella
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.100 |
None |
|
0 |
|
|
|
Nyctalopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
168
|
18
|
0.100 |
None |
|
0 |
|
|
|