SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
2
0.610
limited
1.000
2
2010
2015
Manic Disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
76
0.300
None
1.000
1
2019
2019
Depression, Bipolar
disease
Mental Disorders
Mental or Behavioral Dysfunction
116
2
0.300
None
1.000
1
2019
2019
Bipolar Disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
1183
839
0.300
None
1.000
1
2019
2019
×
CUI:
C0338831
Disease:
Manic
Manic
disease
Mental Disorders
Mental or Behavioral Dysfunction
166
8
0.300
None
1.000
1
2019
2019
GALLOWAY-MOWAT SYNDROME 1
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases
Disease or Syndrome
3
11
0.300
limited
0
Skin Abnormalities
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
Congenital Abnormality
106
16
0.110
None
1.000
1
2010
2010
Intellectual Disability
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
2165
159
0.110
None
1.000
1
2010
2010
Clumsiness - motor delay
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Disease or Syndrome
393
2
0.100
None
0
Renal Insufficiency
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
615
42
0.100
None
0
Motor delay
phenotype
Mental Disorders
Finding
384
34
0.100
None
0
Progressive extrapyramidal movement disorder
phenotype
Finding
9
0.100
None
0
Aplasia/Hypoplasia of the cerebellum
phenotype
Finding
116
5
0.100
None
0
Brain atrophy
disease
Nervous System Diseases
Disease or Syndrome
182
46
0.100
None
0
Spasticity, CTCAE
phenotype
Finding
477
0.100
None
0
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Cerebral atrophy
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
454
44
0.100
None
0
Dysarthria
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Mental or Behavioral Dysfunction
487
54
0.100
None
0
Microcephaly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Congenital Abnormality
1064
27
0.100
None
0
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
0
Muscle Spasticity
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Sign or Symptom
580
48
0.100
None
0
Nephrotic Syndrome
group
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
384
45
0.100
None
0
Optic Atrophy
disease
Eye Diseases; Nervous System Diseases
Disease or Syndrome
568
51
0.100
None
0
Seizures
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
2152
553
0.100
None
0
Congenital cerebellar ataxia
disease
Disease or Syndrome
8
2
0.010
None
1.000
1
2010
2010