CNS hypomyelination
|
phenotype |
|
Finding
|
32
|
6
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of skin morphology
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Anatomical Abnormality
|
16
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
|
0 |
1
|
|
|
Atrophy/Degeneration affecting the brainstem
|
disease |
|
Disease or Syndrome
|
27
|
2
|
0.100 |
None |
|
0 |
|
|
|
Brain atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
182
|
46
|
0.040 |
None |
1.000 |
4 |
|
2012 |
2017 |
Fanconi Anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
394
|
173
|
0.040 |
None |
1.000 |
4 |
|
2003 |
2018 |
Primary Sjögren's syndrome
|
disease |
Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
312
|
42
|
0.030 |
None |
1.000 |
3 |
|
1998 |
2005 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2019 |
Sjogren's Syndrome
|
disease |
Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
481
|
47
|
0.030 |
None |
1.000 |
3 |
|
2003 |
2007 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.030 |
None |
1.000 |
3 |
|
2015 |
2018 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2019 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Infantile Spasm
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
93
|
39
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2012 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.020 |
None |
0.500 |
2 |
|
1999 |
2009 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |
Malignant neoplasm of colon and/or rectum
|
disease |
|
Neoplastic Process
|
3669
|
502
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Stomach Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3720
|
652
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Autosomal Recessive Hereditary Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
20
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Erythroleukemia (Erythroid/Myeloid)
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
237
|
4
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Myoclonic Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
123
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
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 |
|
2018 |
2018 |