SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
None |
1.000 |
3 |
2
|
2015 |
2018 |
JOUBERT SYNDROME 31
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.600 |
None |
1.000 |
1 |
5
|
2016 |
2016 |
Jeune thoracic dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
116
|
0.520 |
strong |
1.000 |
3 |
|
2015 |
2018 |
Joubert syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
26
|
31
|
0.500 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Familial aplasia of the vermis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
95
|
187
|
0.330 |
None |
1.000 |
3 |
1
|
2016 |
2019 |
Joubert syndrome with ocular defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Short Rib-Polydactyly Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
21
|
13
|
0.300 |
None |
|
0 |
|
|
|
Majewski Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
20
|
31
|
0.300 |
None |
|
0 |
|
|
|
Saldino-Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
108
|
0.300 |
None |
|
0 |
|
|
|
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.300 |
None |
|
0 |
|
|
|
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
2 |
2
|
2019 |
2019 |
Waist Circumference
|
phenotype |
|
Clinical Attribute
|
70
|
183
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Multiple Myeloma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Neoplastic Process
|
1740
|
865
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Lean body mass
|
phenotype |
|
Clinical Attribute
|
144
|
211
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Bone Density
|
phenotype |
|
Clinical Attribute
|
138
|
654
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Vital capacity
|
phenotype |
|
Clinical Attribute
|
430
|
746
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Systolic Pressure
|
phenotype |
|
Clinical Attribute
|
843
|
1931
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Abnormality of the ribs
|
disease |
|
Anatomical Abnormality
|
69
|
5
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Biparietal narrowing
|
phenotype |
|
Finding
|
60
|
|
0.100 |
None |
|
0 |
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic facial bones
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Low-set, posteriorly rotated ears
|
phenotype |
|
Finding
|
223
|
19
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the outer ear
|
disease |
|
Anatomical Abnormality
|
95
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Short columella
|
phenotype |
|
Finding
|
20
|
5
|
0.100 |
None |
|
0 |
1
|
|
|