Abnormal CNS myelination
disease
Anatomical Abnormality
9
4
0.100
None
0
Absent reflex
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
201
16
0.100
None
1.000
1
1
2015
2015
Adult Glycogen Storage Disease Type II
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
2
0.300
None
1.000
5
2001
2011
Agenesis of corpus callosum
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
615
45
0.010
None
1.000
1
1997
1997
Anaplastic thyroid carcinoma
disease
Neoplasms
Neoplastic Process
392
16
0.010
None
1.000
1
1997
1997
Aortic Aneurysm
disease
Cardiovascular Diseases
Disease or Syndrome
278
19
0.010
None
1.000
1
2004
2004
Aortic Aneurysm, Abdominal
disease
Cardiovascular Diseases
Disease or Syndrome
586
90
0.010
None
1.000
1
2004
2004
Aplasia Cutis Congenita
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
Congenital Abnormality
393
14
0.010
None
1.000
1
1997
1997
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.010
None
1.000
1
2002
2002
Ataxia Telangiectasia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
Disease or Syndrome
384
698
0.010
None
1.000
1
1997
1997
Becker Muscular Dystrophy
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Disease or Syndrome
86
34
0.010
None
1.000
1
1
2018
2018
Blood Protein Measurement
phenotype
Laboratory Procedure
1156
2575
0.100
None
1.000
1
1
2018
2018
Blood spots
disease
Disease or Syndrome
117
0.040
None
1.000
4
2011
2015
Cardiomegaly
phenotype
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
Finding
267
11
0.100
None
1.000
1
1
2015
2015
Cardiomyopathies
group
Cardiovascular Diseases
Disease or Syndrome
925
294
0.360
limited
0.857
7
2
1994
2018
Cerebellar Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
441
120
0.010
None
1.000
1
2002
2002
Creatine phosphokinase serum increased
phenotype
Finding
228
43
0.100
None
0
1
Cytochrome-c Oxidase Deficiency
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Disease or Syndrome; Congenital Abnormality
65
44
0.020
None
1.000
2
1986
1999
Degenerative disorder
group
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
160
6
0.010
None
1.000
1
2002
2002
Dilatation of the cerebral artery
phenotype
Nervous System Diseases; Cardiovascular Diseases
Anatomical Abnormality
26
1
0.100
None
0
Dysmorphic features
disease
Congenital Abnormality
439
617
0.100
None
1.000
18
2
1988
2015
Dyspnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
222
26
0.100
None
1.000
1
1
2015
2015
Fabry Disease
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
Disease or Syndrome
108
206
0.030
None
1.000
3
2012
2017
×
CUI:
C0015967
Disease:
Fever
Fever
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1021
66
0.100
None
0
Firm muscles
phenotype
Finding
2
0.100
None
0