5q-syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
45
|
1
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
910
|
121
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Agenesis
|
disease |
|
Congenital Abnormality
|
161
|
44
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Amelogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
61
|
24
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Amputated structure (morphologic abnormality)
|
phenotype |
Wounds and Injuries
|
Acquired Abnormality
|
94
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Anencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
59
|
10
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Ankylosing spondylitis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
710
|
609
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
1410
|
80
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Anorectal Malformations
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
112
|
6
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Aplasia cutis congenita of scalp
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia of optic nerve
|
phenotype |
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
ATRIAL SEPTAL DEFECT 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
91
|
16
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
384
|
96
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
B-Cell Lymphomas
|
group |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1408
|
42
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Behavior Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
77
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Bicoronal synostosis
|
disease |
|
Congenital Abnormality
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Brachyturricephaly
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
9
|
2
|
0.100 |
None |
|
0 |
|
|
|
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2010 |
Calvarial skull defect
|
disease |
|
Anatomical Abnormality
|
22
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.030 |
None |
1.000 |
3 |
|
2004 |
2008 |
Carcinoma breast stage IV
|
disease |
|
Neoplastic Process
|
573
|
14
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
cervical cancer
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1817
|
268
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cervix carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1881
|
283
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Childhood Osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2208
|
151
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |