Osteochondral defects
|
phenotype |
|
Anatomical Abnormality
|
17
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
32
|
5
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Myopia, Degenerative
|
disease |
Eye Diseases
|
Disease or Syndrome
|
39
|
58
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Spinocerebellar Ataxia Type 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
7
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Childhood B Acute Lymphoblastic Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
99
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Beckwith-Wiedemann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
107
|
84
|
0.210 |
None |
1.000 |
2 |
|
2010 |
2016 |
Osteoporotic Fractures
|
group |
Wounds and Injuries
|
Disease or Syndrome
|
108
|
40
|
0.030 |
None |
1.000 |
3 |
3
|
2010 |
2013 |
Weight Gain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
124
|
12
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Amyotrophic Lateral Sclerosis, Familial
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
130
|
68
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
136
|
23
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Bone Density
|
phenotype |
|
Clinical Attribute
|
138
|
654
|
0.100 |
None |
1.000 |
3 |
1
|
2008 |
2018 |
Hereditary Nonpolyposis Colorectal Cancer
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
174
|
1331
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Refractory cancer
|
phenotype |
Neoplasms
|
Neoplastic Process
|
184
|
9
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Infectious Lung Disorder
|
group |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
185
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Chronic liver disease
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
196
|
14
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
beta Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
198
|
103
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Tonometry
|
phenotype |
|
Diagnostic Procedure
|
206
|
573
|
0.100 |
None |
1.000 |
2 |
2
|
2018 |
2019 |
Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
216
|
49
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
PARKINSON DISEASE, LATE-ONSET
|
disease |
|
Disease or Syndrome
|
247
|
76
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Primary sclerosing cholangitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
264
|
58
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Bone Diseases
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
317
|
10
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
360
|
194
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Myeloproliferative disease
|
group |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
365
|
43
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Fanconi Anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
394
|
173
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
2 |
4
|
2019 |
2019 |