CCHS WITH HIRSCHSPRUNG DISEASE
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
7
|
1
|
0.500 |
None |
|
0 |
|
|
|
Central hypoventilation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Central neuroblastoma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
2419
|
231
|
0.100 |
None |
1.000 |
15 |
|
1999 |
2019 |
Cerebrovascular accident
|
group |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1658
|
591
|
0.220 |
None |
1.000 |
3 |
|
2006 |
2017 |
Cerebrovascular Occlusion
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Cervical Intraepithelial Neoplasia
|
disease |
Neoplasms
|
Neoplastic Process
|
398
|
29
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cervix Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
43
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
child abuse behavior
|
phenotype |
|
Mental or Behavioral Dysfunction
|
40
|
11
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Childhood Astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
615
|
39
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Childhood Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2527
|
98
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2019 |
Childhood Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2420
|
231
|
0.100 |
None |
1.000 |
15 |
|
1999 |
2019 |
COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital central hypoventilation
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
29
|
15
|
0.610 |
limited |
1.000 |
1 |
1
|
2003 |
2003 |
Constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
424
|
57
|
0.100 |
None |
|
0 |
|
|
|
Contiguous gene syndrome
|
disease |
|
Disease or Syndrome
|
52
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Death in infancy
|
phenotype |
|
Finding
|
146
|
7
|
0.100 |
None |
|
0 |
|
|
|
Differentiating Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
20
|
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2000 |
Digestive System Neuroendocrine Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|
Dysautonomia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
148
|
18
|
0.100 |
None |
|
0 |
|
|
|
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Fibrosis, Liver
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1179
|
64
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Ganglioneuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
57
|
|
0.100 |
None |
|
0 |
|
|
|