Segawa syndrome
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.350 |
None |
1.000 |
6 |
1
|
1995 |
2019 |
Umbilical cord occlusion
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Pseudofolliculitis barbae (disorder)
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
4
|
56
|
0.720 |
definitive |
1.000 |
45 |
52
|
1964 |
2018 |
Hyperphenylalaninemia, BH4-Deficient, B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
13
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
dopamine beta hydroxylase deficiency
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
6-pyruvoyl-tetrahydropterin synthase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
38
|
0.010 |
None |
1.000 |
1 |
|
1987 |
1987 |
DYSTONIA 18 (disorder)
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
6
|
19
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Decreased CSF homovanillic acid
|
phenotype |
|
Finding
|
7
|
2
|
0.100 |
None |
|
0 |
|
|
|
Chiari-Frommel Syndrome
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
9
|
|
0.200 |
None |
1.000 |
2 |
|
2011 |
2015 |
Hyperphenylalaninemia, Non-Phenylketonuric
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
2
|
0.020 |
None |
1.000 |
2 |
|
1987 |
1997 |
Adjustment Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
9
|
4
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Delusional disorder
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
9
|
1
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Pancreatic Cholera
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Old myocardial infarction
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Wolfram Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
9
|
36
|
0.010 |
None |
< 0.001 |
1 |
|
2003 |
2003 |
Oculogyric crisis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Pathologic Function
|
9
|
3
|
0.100 |
None |
|
0 |
|
|
|
Deficiency of reductase
|
disease |
|
Disease or Syndrome
|
10
|
8
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Generalized dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Circling behavior
|
phenotype |
|
Mental or Behavioral Dysfunction
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Progressive encephalopathy
|
phenotype |
Nervous System Diseases
|
Finding
|
14
|
5
|
0.100 |
None |
|
0 |
|
|
|
Waxy flexibility
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
15
|
|
0.300 |
None |
1.000 |
2 |
|
1998 |
2000 |
Dyskinesia, Medication-Induced
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Dystonia 3, Torsion, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
15
|
1
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Motor disturbances
|
phenotype |
|
Sign or Symptom
|
16
|
1
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |