EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
|
disease |
|
Disease or Syndrome
|
7
|
5
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Generalized amyotrophy
|
disease |
|
Disease or Syndrome
|
56
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Essential Hypertension
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
445
|
293
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Kohlschutter Tonz syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases
|
Disease or Syndrome
|
8
|
11
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
4
|
0.700 |
definitive |
1.000 |
9 |
4
|
2000 |
2016 |
Smith-Lemli-Opitz Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
30
|
96
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Deficiency of butyryl-CoA dehydrogenase
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
21
|
47
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Isobutyryl-CoA dehydrogenase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
12
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
2-methylbutyrylglycinuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
8
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
3-Methylglutaconic Aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
1
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Exotropia
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
78
|
23
|
0.100 |
None |
|
0 |
|
|
|
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
|
|
|
Condition, Preneoplastic
|
disease |
Neoplasms
|
Neoplastic Process
|
122
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.010 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Hyperlipidemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
472
|
83
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
420
|
42
|
0.100 |
None |
|
0 |
|
|
|
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Hypothermia, natural
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
52
|
3
|
0.100 |
None |
|
0 |
|
|
|