DiGeorge Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
111
|
7
|
1.000 |
None |
0.988 |
80 |
2
|
1995 |
2019 |
Shprintzen syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
46
|
3
|
1.000 |
None |
0.960 |
50 |
2
|
1996 |
2019 |
Tetralogy of Fallot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
274
|
83
|
0.790 |
limited |
0.800 |
10 |
1
|
1995 |
2019 |
CONOTRUNCAL HEART MALFORMATIONS (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
13
|
22
|
0.610 |
moderate |
1.000 |
1 |
1
|
1995 |
1995 |
CONOTRUNCAL ANOMALY FACE SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
18
|
|
0.510 |
None |
1.000 |
4 |
|
2003 |
2006 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.500 |
None |
1.000 |
14 |
1
|
1997 |
2017 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.470 |
moderate |
1.000 |
7 |
|
2001 |
2018 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.400 |
None |
1.000 |
13 |
|
1996 |
2018 |
22q11 Deletion Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
31
|
2
|
0.390 |
None |
1.000 |
10 |
|
1997 |
2012 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.320 |
None |
1.000 |
4 |
|
2004 |
2012 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.320 |
None |
1.000 |
2 |
|
2011 |
2012 |
Nonorganic psychosis
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
376
|
98
|
0.310 |
None |
1.000 |
3 |
|
2007 |
2011 |
Psychotic Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
560
|
179
|
0.310 |
None |
1.000 |
3 |
|
2007 |
2011 |
22q11 partial monosomy syndrome
|
disease |
|
Disease or Syndrome
|
12
|
|
0.310 |
None |
1.000 |
2 |
|
2002 |
2003 |
Mood Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
580
|
308
|
0.310 |
None |
0.500 |
2 |
|
2007 |
2007 |
Severe Combined Immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
284
|
46
|
0.300 |
moderate |
1.000 |
1 |
|
2001 |
2001 |
Polycystic Ovary Syndrome
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
988
|
363
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Sclerocystic Ovaries
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
144
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Asymmetric crying face association
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
25
|
2
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
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 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.220 |
None |
1.000 |
2 |
|
2011 |
2014 |
Transposition of Great Vessels
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
61
|
18
|
0.200 |
None |
1.000 |
13 |
|
1991 |
2018 |
Otitis Media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
175
|
8
|
0.200 |
None |
1.000 |
1 |
|
2004 |
2004 |
Hypocalcemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
94
|
13
|
0.140 |
None |
1.000 |
4 |
|
1997 |
2014 |
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.140 |
None |
1.000 |
4 |
|
2012 |
2018 |