Increased susceptibility to fractures
|
phenotype |
|
Finding
|
42
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hip joint varus deformity - observation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Finding
|
49
|
2
|
0.100 |
None |
|
0 |
|
|
|
Compression fracture of vertebral column
|
phenotype |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries
|
Pathologic Function
|
25
|
1
|
0.100 |
None |
|
0 |
|
|
|
Beaking of vertebral bodies
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Protrusio acetabuli
|
disease |
|
Anatomical Abnormality
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Biconcave vertebral bodies
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Joint laxity
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
224
|
15
|
0.100 |
None |
|
0 |
|
|
|
Alpha-2-antiplasmin deficiency
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
1982 |
1982 |
Familial hemorrhagic diathesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
1982 |
1982 |
Angioedemas, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
54
|
7
|
0.020 |
None |
1.000 |
2 |
|
1984 |
1985 |
Hemorrhagic Disorders
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
30
|
3
|
0.020 |
None |
1.000 |
2 |
|
1982 |
1987 |
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
20
|
2
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
Neuroectodermal Tumor, Primitive
|
disease |
Neoplasms
|
Neoplastic Process
|
184
|
6
|
0.010 |
None |
< 0.001 |
1 |
|
1997 |
1997 |
Motor neuron atrophy
|
disease |
|
Disease or Syndrome
|
138
|
21
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Childhood Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
517
|
12
|
0.010 |
None |
< 0.001 |
1 |
|
2001 |
2001 |
Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
565
|
20
|
0.010 |
None |
< 0.001 |
1 |
|
2001 |
2001 |
Adult Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
509
|
12
|
0.010 |
None |
< 0.001 |
1 |
|
2001 |
2001 |
High grade glioma
|
disease |
Neoplasms
|
Neoplastic Process
|
190
|
15
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Squamous cell carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2507
|
257
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Tumor-Associated Vasculature
|
disease |
|
Acquired Abnormality
|
84
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Childhood Kidney Wilms Tumor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
338
|
36
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Low grade glioma
|
disease |
Neoplasms
|
Neoplastic Process
|
85
|
10
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Nephroblastoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
586
|
125
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |