Multiple Epiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
7
|
0.700 |
limited |
1.000 |
14 |
|
2001 |
2019 |
STICKLER SYNDROME, TYPE IV
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
None |
1.000 |
2 |
2
|
2001 |
2006 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
|
disease |
|
Disease or Syndrome
|
1
|
|
0.500 |
None |
1.000 |
2 |
|
2001 |
2006 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.400 |
None |
1.000 |
1 |
|
2006 |
2006 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.400 |
strong |
1.000 |
1 |
|
2011 |
2011 |
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.400 |
None |
1.000 |
1 |
|
2006 |
2006 |
Stickler syndrome (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
17
|
8
|
0.350 |
limited |
1.000 |
7 |
2
|
2005 |
2019 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.310 |
None |
1.000 |
2 |
|
2001 |
2006 |
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 |
2 |
|
2001 |
2006 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
20
|
3
|
0.300 |
None |
1.000 |
2 |
|
2001 |
2006 |
Schwartz-Jampel Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
77
|
12
|
0.300 |
None |
1.000 |
2 |
|
2001 |
2006 |
Spondyloepiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
|
0.300 |
None |
1.000 |
2 |
|
2001 |
2006 |
Dyschondroplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
24
|
|
0.300 |
None |
1.000 |
2 |
|
2001 |
2006 |
Melnick-Needles Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
23
|
19
|
0.300 |
None |
1.000 |
2 |
|
2001 |
2006 |
Van Buchem disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
24
|
2
|
0.300 |
None |
1.000 |
2 |
|
2001 |
2006 |
Sensory hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
14
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Retinal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
714
|
56
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
limited |
|
0 |
|
|
|
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
59
|
442
|
0.300 |
limited |
|
0 |
|
|
|
Osteoarthrosis, localized, not specified whether primary or secondary
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
28
|
|
0.200 |
None |
1.000 |
1 |
|
2001 |
2001 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.130 |
None |
1.000 |
3 |
|
2000 |
2014 |
Low density lipoprotein cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
483
|
1142
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Serum albumin measurement
|
phenotype |
|
Laboratory Procedure
|
433
|
3282
|
0.100 |
None |
1.000 |
1 |
14
|
2013 |
2013 |
Serum LDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
269
|
555
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |