PONTOCEREBELLAR HYPOPLASIA, TYPE 9
|
disease |
|
Disease or Syndrome
|
2
|
7
|
0.730 |
None |
1.000 |
6 |
7
|
2013 |
2020 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.120 |
None |
1.000 |
2 |
|
2018 |
2019 |
Congenital pontocerebellar hypoplasia
|
disease |
Nervous System Diseases
|
Congenital Abnormality
|
32
|
7
|
0.320 |
strong |
1.000 |
2 |
|
2013 |
2018 |
Pontoneocerebellar hypoplasia
|
disease |
|
Disease or Syndrome
|
27
|
10
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
|
0.600 |
moderate |
1.000 |
2 |
|
2014 |
2016 |
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
852
|
704
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Fatty Liver
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
875
|
35
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Glycogen Storage Disease Type V
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
22
|
76
|
0.010 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Lupus Erythematosus, Systemic
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
1883
|
1172
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Sepsis
|
disease |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
1453
|
144
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Adult Undifferentiated Pleomorphic Sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
27
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Malignant Fibrous Histiocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
150
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
STICKLER SYNDROME, TYPE II (disorder)
|
disease |
Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
9
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Childhood Undifferentiated Pleomorphic Sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
27
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.100 |
None |
|
0 |
1
|
|
|
Macroglossia
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
115
|
2
|
0.100 |
None |
|
0 |
|
|
|
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Peripheral axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
94
|
12
|
0.100 |
None |
|
0 |
|
|
|