alpha-Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
86
|
37
|
0.050 |
None |
1.000 |
5 |
|
1992 |
2012 |
Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
862
|
115
|
0.050 |
None |
1.000 |
5 |
|
1989 |
2014 |
alpha^+^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
92
|
16
|
0.050 |
None |
1.000 |
5 |
|
1992 |
2012 |
Pseudoachondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
19
|
16
|
0.050 |
None |
1.000 |
5 |
|
1997 |
2012 |
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
|
0.050 |
None |
1.000 |
5 |
2
|
2006 |
2019 |
Adult Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
762
|
24
|
0.040 |
None |
1.000 |
4 |
|
1989 |
2014 |
Childhood Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
771
|
25
|
0.040 |
None |
1.000 |
4 |
|
1989 |
2014 |
Hypercholesterolemia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
203
|
1423
|
0.030 |
None |
1.000 |
3 |
|
1996 |
2007 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.130 |
None |
1.000 |
3 |
|
2000 |
2014 |
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 |
Spondyloepiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
|
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 |
Osteoarthritis of hip
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
164
|
121
|
0.020 |
None |
1.000 |
2 |
|
2000 |
2005 |
Hyperlipoproteinemia Type IIa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
201
|
661
|
0.020 |
None |
1.000 |
2 |
|
1996 |
1996 |
Erythema
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
227
|
8
|
0.020 |
None |
1.000 |
2 |
|
1981 |
2019 |
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 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.310 |
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 |
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
285
|
44
|
0.020 |
None |
1.000 |
2 |
3
|
2013 |
2016 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
|
disease |
|
Disease or Syndrome
|
1
|
|
0.500 |
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 |
STICKLER SYNDROME, TYPE IV
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
None |
1.000 |
2 |
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 |
Cerebellar medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Alcohol or Other Drugs use
|
disease |
|
Mental or Behavioral Dysfunction
|
108
|
21
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |