EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
13
|
0.730 |
None |
1.000 |
10 |
13
|
2009 |
2016 |
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
285
|
44
|
0.410 |
None |
1.000 |
2 |
|
2009 |
2017 |
Floppy Muscles
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Joint Instability
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Prostatic Neoplasms
|
group |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
1722
|
31
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Flaccid Muscle Tone
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Joint laxity
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
224
|
15
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Neoplasm Recurrence, Local
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
39
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Unilateral Hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
8
|
1
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Thumb in palm deformity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
3
|
2
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Muscle Tone Atonic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Neonatal Hypotonia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
169
|
45
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Malignant neoplasm of prostate
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4502
|
1082
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Ehlers-Danlos syndrome musculocontractural type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
strong |
|
0 |
|
|
|
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Ehlers-Danlos Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
77
|
14
|
0.100 |
None |
1.000 |
12 |
|
2010 |
2018 |
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|
Telecanthus
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
134
|
14
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Increased tendency to bruise
|
phenotype |
Wounds and Injuries
|
Finding
|
133
|
14
|
0.100 |
None |
|
0 |
|
|
|
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
|
|
|
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
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 |
|
|
|