CHARGE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
49
|
205
|
1.000 |
definitive |
0.981 |
157 |
204
|
2004 |
2020 |
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
21
|
0.200 |
None |
1.000 |
21 |
1
|
1991 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.110 |
None |
1.000 |
21 |
7
|
1999 |
2016 |
Kallmann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
86
|
30
|
0.600 |
None |
1.000 |
16 |
|
2006 |
2018 |
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
|
disease |
|
Disease or Syndrome
|
1
|
25
|
0.600 |
strong |
1.000 |
10 |
25
|
2004 |
2016 |
Familial CHARGE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
4
|
|
0.510 |
None |
1.000 |
9 |
|
2005 |
2015 |
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
|
0.080 |
None |
1.000 |
8 |
|
1988 |
2019 |
Hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
178
|
18
|
0.160 |
None |
1.000 |
6 |
|
2000 |
2018 |
Shprintzen-Goldberg syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
61
|
21
|
0.060 |
None |
1.000 |
6 |
|
1988 |
2019 |
Klinefelter Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
150
|
18
|
0.050 |
None |
1.000 |
5 |
|
2000 |
2018 |
Idiopathic hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
82
|
66
|
0.340 |
strong |
1.000 |
5 |
|
2008 |
2020 |
Cleft palate with cleft lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
119
|
43
|
0.040 |
None |
1.000 |
4 |
|
1991 |
2017 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.040 |
None |
1.000 |
4 |
|
2012 |
2019 |
Agenesis
|
disease |
|
Congenital Abnormality
|
161
|
44
|
0.030 |
None |
1.000 |
3 |
|
2008 |
2011 |
Hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
305
|
24
|
0.130 |
None |
1.000 |
3 |
|
2000 |
2016 |
Cartilage-hair hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
49
|
77
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2019 |
Coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Anatomical Abnormality
|
153
|
12
|
0.130 |
None |
1.000 |
3 |
1
|
1996 |
2006 |
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.030 |
None |
1.000 |
3 |
|
1991 |
2017 |
Idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
46
|
17
|
0.030 |
None |
1.000 |
3 |
1
|
2007 |
2013 |
Congenital malformation syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
57
|
2
|
0.030 |
None |
1.000 |
3 |
|
2011 |
2016 |
ATRIOVENTRICULAR CANAL DEFECT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Anatomical Abnormality
|
55
|
14
|
0.030 |
None |
1.000 |
3 |
|
2013 |
2017 |
Congenital hypogonadotropic hypogonadism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
Disease or Syndrome
|
23
|
10
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2019 |
Refractory anemias
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
340
|
11
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2018 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2018 |
Facial paralysis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
182
|
3
|
0.120 |
None |
1.000 |
2 |
|
2010 |
2011 |