Peroxisome Biogenesis Disorder, Complementation Group H
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Adrenocortical carcinoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
281
|
46
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cholangiocarcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
877
|
43
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Adult Non-Hodgkin Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
370
|
39
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Childhood Non-Hodgkin Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
371
|
39
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Adult Soft Tissue Sarcoma
|
disease |
|
Neoplastic Process
|
162
|
3
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Malignant neoplasm of salivary gland
|
disease |
Neoplasms; Stomatognathic Diseases
|
Neoplastic Process
|
91
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Childhood Soft Tissue Sarcoma
|
disease |
|
Neoplastic Process
|
166
|
3
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Metastatic malignant neoplasm to brain
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
392
|
28
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
OVERLAP CONNECTIVE TISSUE DISEASE
|
disease |
Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
36
|
31
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
reproductive system disorder
|
group |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
ATRICHIA WITH PAPULAR LESIONS
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
70
|
3
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Ileal Pouches
|
disease |
|
Acquired Abnormality
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Muenke Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
11
|
0.010 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Bone pain
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Sign or Symptom
|
139
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Periosteal Disorder
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
80
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Esophageal carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1287
|
272
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Congenital heart disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
267
|
80
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Proliferative diabetic retinopathy
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
180
|
45
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Saethre-Chotzen Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
30
|
33
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
HYPERTRICHOSIS, CONGENITAL GENERALIZED
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
25
|
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Childhood Ependymoma
|
disease |
Neoplasms
|
Neoplastic Process
|
147
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
1410
|
80
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Phosphaturic Mesenchymal Tumor
|
disease |
|
Neoplastic Process
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Congenital absence of liver
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
25
|
2
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |