3-Methylglutaconic aciduria type 3
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
Disease or Syndrome
12
13
0.010
None
1.000
1
2009
2009
Abdominal mass
phenotype
Digestive System Diseases
Finding
2
0.100
None
0
Abdominal Pain
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
302
18
0.100
None
0
Abnormality of the thorax
disease
Anatomical Abnormality
40
5
0.100
None
0
Absent reflex
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
201
16
0.100
None
0
Adrenal Gland Pheochromocytoma
disease
Neoplasms; Endocrine System Diseases
Neoplastic Process
416
50
0.130
None
1.000
3
2008
2014
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
2001
2001
Alzheimer's Disease
disease
Nervous System Diseases; Mental Disorders
Disease or Syndrome
3397
1843
0.010
None
1.000
1
2017
2017
Amyloidosis
disease
Nutritional and Metabolic Diseases
Disease or Syndrome
694
93
0.010
None
1.000
1
2018
2018
Amyotrophic Lateral Sclerosis
disease
Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
1114
485
0.210
None
1.000
2
2007
2011
Anemia
disease
Hemic and Lymphatic Diseases
Disease or Syndrome
847
94
0.100
None
0
Aniridia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Congenital Abnormality
83
29
0.100
None
0
×
CUI:
C0003578
Disease:
Apnea
Apnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
262
11
0.010
None
1.000
1
2001
2001
Arachnoid hemangiomatosis
phenotype
Neoplasms
Finding
15
0.100
None
0
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Axonal degeneration/regeneration
phenotype
Finding
8
0.100
None
0
Axonal neuropathy
disease
Nervous System Diseases
Disease or Syndrome
59
13
0.100
None
1.000
11
1994
2015
Body Fat Distribution
phenotype
Finding
90
119
0.100
None
1.000
1
1
2019
2019
Body Height
phenotype
Organism Attribute
1903
3972
0.100
None
1.000
1
1
2019
2019
Bone pain
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Sign or Symptom
139
0.100
None
0
Bone Pain, CTCAE 3.0
phenotype
Finding
67
0.100
None
0
Bone Pain, CTCAE 5.0
phenotype
Finding
67
0.100
None
0
Breast Carcinoma
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6776
2793
0.010
None
1.000
1
2019
2019
Cafe-au-Lait Spots
phenotype
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
Finding
74
32
0.100
None
0
Capillary hemangioma of retina
disease
Neoplasms; Cardiovascular Diseases
Neoplastic Process
15
1
0.100
None
0