Articulation Disorders
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Congenital cardiovascular disorder
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Chromosome 22q11.2 Microduplication Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Dextrotransposition of the great arteries
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Cervical aortic arch
|
disease |
|
Congenital Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
C9 Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
Disease or Syndrome
|
2
|
5
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
familial chordoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Neoplastic Process
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Temporal Lobe Pleomorphic Xanthoastrocytoma
|
disease |
|
Neoplastic Process
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Esophoria
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Parachordoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Esotropia with accommodative compensation
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Supernumerary der(22)t(8;22) syndrome
|
disease |
|
Disease or Syndrome
|
4
|
|
0.030 |
None |
1.000 |
3 |
|
1999 |
2002 |
Common atrioventricular canal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
4
|
2
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
3C syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
4
|
6
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
11
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Decreased circulating parathyroid hormone level
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of parathyroid gland
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
Congenital Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Parathyroid hypoplasia
|
disease |
|
Congenital Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Anterior creases of earlobe
|
phenotype |
|
Finding
|
4
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital anomaly of aortic arch
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Abnormality of the thymus
|
disease |
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the middle ear
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Unilateral primary pulmonary dysgenesis
|
disease |
|
Disease or Syndrome
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Emanuel syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
Disease or Syndrome
|
6
|
|
0.030 |
None |
1.000 |
3 |
|
1999 |
2002 |