STICKLER SYNDROME, TYPE II (disorder)
|
disease |
Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
9
|
0.980 |
None |
1.000 |
16 |
9
|
1971 |
2020 |
Marshall syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
3
|
0.730 |
None |
1.000 |
5 |
3
|
1996 |
2014 |
Fibrochondrogenesis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
3
|
|
0.630 |
strong |
1.000 |
3 |
|
2010 |
2013 |
Stickler syndrome, type 1
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
28
|
27
|
0.600 |
strong |
1.000 |
17 |
|
1971 |
2017 |
FIBROCHONDROGENESIS 1
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.600 |
None |
1.000 |
2 |
4
|
1996 |
2010 |
Intervertebral disc disorder
|
group |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Disease or Syndrome
|
188
|
19
|
0.510 |
None |
1.000 |
2 |
1
|
1996 |
2014 |
Osteoarthritis of hip
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
164
|
121
|
0.440 |
None |
1.000 |
5 |
6
|
2014 |
2019 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.410 |
strong |
1.000 |
1 |
|
2003 |
2003 |
Angle Closure Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
94
|
56
|
0.400 |
None |
1.000 |
12 |
3
|
2012 |
2019 |
Spondyloepiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
|
0.400 |
None |
1.000 |
1 |
|
2009 |
2009 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.310 |
None |
1.000 |
2 |
|
2009 |
2014 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.310 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Lumbar disc disease
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Disease or Syndrome
|
49
|
30
|
0.310 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Corpus Luteum Cyst
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Dyschondroplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
24
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Schwartz-Jampel Syndrome, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
4
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Multiple Epiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
7
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Melnick-Needles Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
23
|
19
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Intervertebral Disk Displacement
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Disease or Syndrome
|
35
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Achromatopsia 3
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
106
|
0.300 |
strong |
1.000 |
1 |
|
1996 |
1996 |
Van Buchem disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
24
|
2
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Schwartz-Jampel Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
77
|
12
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Ovarian Cysts
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
74
|
3
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
limited |
1.000 |
1 |
|
2007 |
2007 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |