Neurofibromatosis type 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
1
|
1
|
0.040 |
None |
1.000 |
4 |
1
|
2000 |
2016 |
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
1
|
22
|
0.720 |
strong |
1.000 |
4 |
22
|
2001 |
2013 |
Spinal neurofibromas
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
1
|
2
|
0.130 |
None |
0.667 |
3 |
2
|
1997 |
2011 |
Congenital pseudoarthrosis
|
disease |
Wounds and Injuries
|
Congenital Abnormality
|
1
|
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2012 |
Fibrolipoma
|
disease |
Neoplasms
|
Neoplastic Process
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Malignant melanoma of anus
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Desmoplastic Neurotropic Melanoma
|
disease |
|
Neoplastic Process
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Fetal cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Tibial pseudoarthrosis
|
disease |
Wounds and Injuries
|
Anatomical Abnormality
|
1
|
1
|
0.110 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Symmetric spinal nerve root neurofibromas
|
disease |
|
Neoplastic Process
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Inguinal freckling
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
1
|
7
|
0.100 |
None |
|
0 |
7
|
|
|
Lisch nodules
|
phenotype |
|
Finding
|
1
|
5
|
0.100 |
None |
|
0 |
5
|
|
|
Neurofibromatosis, type 4, of Riccardi
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.200 |
None |
1.000 |
4 |
|
1994 |
2018 |
Mid aortic syndrome
|
disease |
|
Disease or Syndrome
|
2
|
3
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Large cafe-au-lait macules with irregular margins
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Cafe-au-lait macules with pulmonary stenosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
3
|
18
|
0.730 |
strong |
1.000 |
8 |
18
|
1993 |
2017 |
Neuromuscular hamartoma
|
disease |
Neoplasms
|
Disease or Syndrome
|
3
|
2
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Malignant phyllodes tumor of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
3
|
1
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Ectropion uveae
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2005 |
2005 |
Aneurysm enlargement
|
disease |
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Neurofibroma of subcutaneous tissue
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
3
|
3
|
0.100 |
None |
|
0 |
3
|
|
|
Neurofibromatosis-Noonan syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
4
|
25
|
0.780 |
strong |
1.000 |
13 |
25
|
2001 |
2016 |
NF1 Microdeletion Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
4
|
|
0.330 |
None |
1.000 |
3 |
|
2005 |
2019 |
Learning problems
|
disease |
|
Mental or Behavioral Dysfunction
|
4
|
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2012 |
Juvenile Xanthogranuloma
|
disease |
Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
4
|
2
|
0.010 |
None |
< 0.001 |
1 |
|
2015 |
2015 |