Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital disorder of glycosylation type 1s
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital Disorders of Glycosylation
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
102
|
38
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Choreoathetosis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
94
|
9
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hyperlactatemia
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
18
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Thromboangiitis Obliterans
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
127
|
16
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Thyroid associated opthalmopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
211
|
49
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Platelet mean volume determination (procedure)
|
phenotype |
|
Laboratory Procedure
|
223
|
371
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Rett Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
234
|
368
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.320 |
limited |
1.000 |
3 |
|
2015 |
2018 |
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.400 |
limited |
1.000 |
1 |
|
2015 |
2015 |
Niemann-Pick Disease, Type C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
201
|
33
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Arthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1072
|
69
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Amish Infantile Epilepsy Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2
|
10
|
0.720 |
None |
1.000 |
8 |
9
|
2004 |
2018 |
Infantile muscular hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
118
|
24
|
0.100 |
None |
|
0 |
|
|
|
Slow decrease in visual acuity
|
phenotype |
|
Finding
|
27
|
3
|
0.100 |
None |
|
0 |
|
|
|
Progressive neurologic deterioration
|
phenotype |
Mental Disorders
|
Finding
|
33
|
5
|
0.100 |
None |
|
0 |
|
|
|
Irritation - emotion
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
147
|
14
|
0.100 |
None |
|
0 |
|
|
|
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
305
|
22
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|