Congenital cerebellar ataxia
disease
Disease or Syndrome
8
2
0.010
None
1.000
1
2010
2010
Nonprogressive/congenital
disease
Congenital Abnormality
3
0.010
None
1.000
1
2010
2010
Progressive extrapyramidal movement disorder
phenotype
Finding
9
0.100
None
0
Aplasia/Hypoplasia of the cerebellum
phenotype
Finding
116
5
0.100
None
0
Spasticity, CTCAE
phenotype
Finding
477
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
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
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
Optic Atrophy
disease
Eye Diseases; Nervous System Diseases
Disease or Syndrome
568
51
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
Renal Insufficiency
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
615
42
0.100
None
0
Tuberculosis
disease
Infections
Disease or Syndrome
1256
328
0.010
None
1.000
1
2018
2018
Bipolar Disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
1183
839
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
Manic Disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
76
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
Motor delay
phenotype
Mental Disorders
Finding
384
34
0.100
None
0
Malignant neoplasm of breast
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6941
3417
0.010
None
1.000
1
2017
2017
Breast Carcinoma
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6776
2793
0.010
None
1.000
1
2017
2017
Brain atrophy
disease
Nervous System Diseases
Disease or Syndrome
182
46
0.100
None
0
Galloway Mowat syndrome
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
15
1
0.010
None
1.000
1
2010
2010
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
Mental Retardation
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
505
98
0.010
None
1.000
1
2010
2010
Muscle Spasticity
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Sign or Symptom
580
48
0.100
None
0
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0