Beta-Ureidopropionase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
11
|
0.720 |
None |
1.000 |
7 |
11
|
2004 |
2016 |
Jackknife Seizures
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Nodding spasm
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
8
|
1
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Hypsarrhythmia
|
phenotype |
Nervous System Diseases
|
Finding
|
152
|
7
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Symptomatic Infantile Spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Cryptogenic Infantile Spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.300 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
West Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
149
|
28
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
spasmus nutans
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Salaam Seizures
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
75
|
9
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Celiac Disease
|
disease |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
527
|
263
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Neonatal Hypotonia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
169
|
45
|
0.100 |
None |
|
0 |
|
|
|
Delayed CNS myelination
|
disease |
|
Anatomical Abnormality
|
21
|
4
|
0.100 |
None |
|
0 |
|
|
|
Speech Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
183
|
7
|
0.100 |
None |
|
0 |
|
|
|
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.100 |
None |
|
0 |
|
|
|
Bladder Exstrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
18
|
7
|
0.100 |
None |
|
0 |
|
|
|
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |