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
|
0.310 |
None |
1.000 |
1 |
|
2002 |
2002 |
Abnormality of body height
|
disease |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of cardiovascular system morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
198
|
13
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the dentition
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
140
|
16
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the voice
|
disease |
|
Finding
|
64
|
|
0.100 |
None |
|
0 |
|
|
|
Absence of pubertal development
|
phenotype |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Absence of secondary sex characteristics
|
phenotype |
|
Finding
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Acquired Camptodactyly
|
disease |
|
Acquired Abnormality
|
120
|
1
|
0.100 |
None |
|
0 |
|
|
|
Acrocephalosyndactylia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
3
|
1
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Acute leukemia
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
639
|
50
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Adenocarcinoma
|
group |
Neoplasms
|
Neoplastic Process
|
2235
|
168
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2019 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.100 |
None |
|
0 |
|
|
|
Alobar Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
16
|
|
0.300 |
None |
|
0 |
|
|
|
Ambiguous Genitalia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
109
|
14
|
0.100 |
None |
|
0 |
|
|
|
Amputated structure (morphologic abnormality)
|
phenotype |
Wounds and Injuries
|
Acquired Abnormality
|
94
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
androgen independent prostate cancer
|
disease |
|
Neoplastic Process
|
190
|
5
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Anosmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
40
|
4
|
0.100 |
None |
|
0 |
|
|
|
Anterior hypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
48
|
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Anxiety
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1048
|
287
|
0.100 |
None |
|
0 |
|
|
|
Aortic Valve Insufficiency
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
377
|
8
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Apert syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
20
|
24
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Arnold-Chiari Malformation, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
41
|
1
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.100 |
None |
|
0 |
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.100 |
None |
|
0 |
|
|
|