Retinitis Pigmentosa 18
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
3
|
3
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
3
|
10
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Poliomyelitis
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
23
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Maturation defect
|
phenotype |
|
Acquired Abnormality
|
43
|
2
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Myoclonic Epilepsies, Progressive
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
48
|
17
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Dysautonomia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
52
|
46
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Unverricht-Lundborg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
56
|
17
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Overlap syndrome
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
57
|
2
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Parvovirus B19 (disease)
|
disease |
|
Disease or Syndrome
|
59
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Mixed Connective Tissue Disease
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
61
|
4
|
0.060 |
None |
1.000 |
6 |
|
1984 |
2017 |
Autoimmune Lymphoproliferative Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
65
|
22
|
0.010 |
None |
< 0.001 |
1 |
|
2011 |
2011 |
Autosomal dominant retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
85
|
65
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Adult Teratoma
|
disease |
Neoplasms
|
Neoplastic Process
|
93
|
3
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Childhood Teratoma
|
disease |
Neoplasms
|
Neoplastic Process
|
95
|
3
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
GRN-related frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
112
|
20
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Teratoma
|
disease |
Neoplasms
|
Neoplastic Process
|
171
|
8
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Miller Dieker syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
182
|
9
|
0.010 |
None |
< 0.001 |
1 |
|
2015 |
2015 |
Motor Neuron Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
186
|
52
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Connective Tissue Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
188
|
24
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Frontotemporal Lobar Degeneration
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
195
|
54
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Encephalitis, St. Louis
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
272
|
34
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Neurofibromatosis 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
311
|
827
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.100 |
None |
1.000 |
22 |
|
1997 |
2020 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.070 |
None |
1.000 |
7 |
|
2007 |
2019 |
Herpes Simplex Infections
|
group |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
645
|
11
|
0.010 |
None |
1.000 |
1 |
|
1987 |
1987 |