EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
|
disease |
|
Disease or Syndrome
|
1
|
|
0.500 |
None |
1.000 |
2 |
|
2001 |
2006 |
STICKLER SYNDROME, TYPE IV
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
None |
1.000 |
2 |
2
|
2001 |
2006 |
Flat distal femoral epiphysis
|
disease |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Degenerative vitreoretinopathy
|
disease |
|
Disease or Syndrome
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Irregular distal femoral epiphysis
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Irregular capital femoral epiphysis
|
disease |
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the knee
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Deformity of lower limb
|
disease |
|
Anatomical Abnormality
|
11
|
5
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Schmorl's nodes
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Disease or Syndrome
|
11
|
2
|
0.100 |
None |
|
0 |
|
|
|
Flat capital femoral epiphysis
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Serous retinal detachment
|
disease |
Eye Diseases
|
Disease or Syndrome
|
12
|
2
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Cerebellar medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
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 |
Irregular epiphyses
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Small epiphyses
|
phenotype |
|
Finding
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
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 |
Pseudoachondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
19
|
16
|
0.050 |
None |
1.000 |
5 |
|
1997 |
2012 |
Homozygous alpha thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
19
|
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
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 |
Vitreoretinal degeneration
|
disease |
|
Disease or Syndrome
|
20
|
6
|
0.100 |
None |
|
0 |
|
|
|
alpha^0^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
21
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
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 |
Dyschondroplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
24
|
|
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 |