Microphthalmia, Syndromic 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
16
|
0.700 |
strong |
1.000 |
10 |
16
|
1997 |
2014 |
PITUITARY HORMONE DEFICIENCY, COMBINED, 6
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
strong |
1.000 |
4 |
2
|
2008 |
2015 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.410 |
strong |
1.000 |
1 |
1
|
2009 |
2009 |
Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
862
|
115
|
0.400 |
None |
1.000 |
26 |
|
1999 |
2019 |
Childhood Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
771
|
25
|
0.400 |
None |
1.000 |
25 |
|
1999 |
2019 |
Adult Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
762
|
24
|
0.400 |
None |
1.000 |
25 |
|
1999 |
2019 |
Septo-Optic Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
35
|
19
|
0.400 |
None |
1.000 |
2 |
|
2011 |
2014 |
Ectopic posterior pituitary
|
phenotype |
|
Finding
|
16
|
2
|
0.400 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Panhypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
73
|
23
|
0.350 |
None |
0.800 |
5 |
1
|
2008 |
2019 |
Otocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
4
|
2
|
0.330 |
None |
1.000 |
3 |
|
2012 |
2015 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.320 |
None |
0.500 |
2 |
1
|
2007 |
2017 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.320 |
strong |
1.000 |
2 |
|
2008 |
2009 |
Medullomyoblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
43
|
|
0.310 |
None |
1.000 |
2 |
|
2009 |
2012 |
Dysgnathia complex
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
3
|
|
0.310 |
None |
1.000 |
1 |
|
2012 |
2012 |
SCHIZOPHRENIA 15
|
disease |
|
Mental or Behavioral Dysfunction
|
2
|
3
|
0.310 |
None |
< 0.001 |
1 |
|
2007 |
2007 |
Bipolar Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1183
|
839
|
0.310 |
None |
1.000 |
1 |
1
|
2007 |
2007 |
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
|
0.300 |
None |
1.000 |
2 |
|
2011 |
2014 |
Desmoplastic Medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
54
|
1
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Butterfly-shaped pigmentary macular dystrophy
|
disease |
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Fetal Alcohol Spectrum Disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders
|
Disease or Syndrome; Congenital Abnormality
|
46
|
2
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Fetal Alcohol Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders
|
Disease or Syndrome
|
89
|
8
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Melanotic medulloblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
43
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Pituitary Hormone Deficiency, Combined, 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
Disease or Syndrome
|
6
|
24
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Jaw Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2002 |
2002 |
Microphthalmos, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |