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 |
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 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.410 |
strong |
1.000 |
2 |
2
|
2014 |
2018 |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
disease |
|
Finding
|
578
|
1158
|
0.400 |
strong |
1.000 |
1 |
1
|
2018 |
2018 |
Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
13
|
0.400 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Idiopathic hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
82
|
66
|
0.340 |
strong |
1.000 |
5 |
|
2008 |
2020 |
Omenn Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
35
|
48
|
0.310 |
None |
1.000 |
1 |
|
2008 |
2008 |
Immunologic Deficiency Syndromes
|
group |
Immune System Diseases
|
Disease or Syndrome
|
973
|
31
|
0.300 |
strong |
1.000 |
1 |
|
2010 |
2010 |
Malignant neoplasm of prostate
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4502
|
1082
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Prostatic Neoplasms
|
group |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
1722
|
31
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Kallmann syndrome, type 3, recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
|
0 |
|
|
|
Kallmann Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
12
|
30
|
0.300 |
None |
|
0 |
|
|
|
Kallmann Syndrome 2 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
8
|
45
|
0.300 |
None |
|
0 |
|
|
|
Congenital ear anomaly NOS (disorder)
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
5
|
0.200 |
None |
1.000 |
22 |
|
1991 |
2019 |
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 |
Hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
178
|
18
|
0.160 |
None |
1.000 |
6 |
|
2000 |
2018 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.140 |
None |
1.000 |
4 |
|
2011 |
2019 |
Hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
305
|
24
|
0.130 |
None |
1.000 |
3 |
|
2000 |
2016 |
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 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.120 |
None |
1.000 |
2 |
|
1991 |
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 |
Severe Combined Immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
284
|
46
|
0.120 |
None |
1.000 |
2 |
|
2008 |
2017 |
Sense of smell impaired
|
phenotype |
Nervous System Diseases
|
Sign or Symptom
|
60
|
12
|
0.120 |
None |
1.000 |
2 |
|
2009 |
2017 |