Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
1
|
10
|
0.700 |
strong |
1.000 |
3 |
10
|
2009 |
2015 |
Cutis Laxa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
70
|
21
|
0.600 |
limited |
1.000 |
1 |
|
2013 |
2013 |
Muscular Dystrophy, Duchenne
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
375
|
170
|
0.400 |
None |
1.000 |
10 |
1
|
2013 |
2018 |
Glioblastoma Multiforme
|
disease |
Neoplasms
|
Neoplastic Process
|
3197
|
186
|
0.310 |
None |
1.000 |
1 |
|
2016 |
2016 |
Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3177
|
281
|
0.310 |
None |
1.000 |
1 |
|
2016 |
2016 |
Giant Cell Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
95
|
3
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Neoplasm Recurrence, Local
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
39
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Lung diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
700
|
50
|
0.300 |
limited |
|
0 |
|
|
|
Vital capacity
|
phenotype |
|
Clinical Attribute
|
430
|
746
|
0.100 |
None |
1.000 |
2 |
2
|
2019 |
2019 |
peak expiratory flow (procedure)
|
phenotype |
|
Laboratory Procedure
|
74
|
119
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Periorbital edema
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
Pathologic Function
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.100 |
None |
|
0 |
|
|
|
Joint laxity
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
224
|
15
|
0.100 |
None |
|
0 |
|
|
|
Tracheomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
30
|
5
|
0.100 |
None |
|
0 |
|
|
|
Skin Wrinkling
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Bladder Diverticulum
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Acquired Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Genu recurvatum
|
disease |
|
Anatomical Abnormality
|
32
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture
|
disease |
Musculoskeletal Diseases
|
Finding
|
210
|
32
|
0.100 |
None |
|
0 |
|
|
|