Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
1
|
0.600 |
None |
1.000 |
2 |
1
|
2009 |
2012 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.300 |
limited |
1.000 |
1 |
|
2012 |
2012 |
Exocrine pancreatic insufficiency
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
82
|
26
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Anemia of inadequate production
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
10
|
3
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.100 |
None |
|
0 |
|
|
|
Malnutrition
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
417
|
29
|
0.100 |
None |
|
0 |
|
|
|
Steatorrhea
|
phenotype |
Digestive System Diseases; Nutritional and Metabolic Diseases
|
Finding
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|
Dental caries
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
330
|
126
|
0.100 |
None |
|
0 |
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Icterus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
241
|
17
|
0.100 |
None |
|
0 |
|
|
|
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
845
|
61
|
0.100 |
None |
|
0 |
|
|
|
Exanthema
|
phenotype |
Skin and Connective Tissue Diseases
|
Sign or Symptom
|
251
|
14
|
0.100 |
None |
|
0 |
|
|
|
Allergic rhinitis (disorder)
|
disease |
Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
446
|
176
|
0.100 |
None |
|
0 |
|
|
|
Calvarial hyperostosis
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Tumor Angiogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Neoplastic Process
|
822
|
5
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Heart failure with preserved ejection fraction [HFpEF]
|
disease |
|
Disease or Syndrome
|
89
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cytochrome-c Oxidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
65
|
44
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Myocardial Ischemia
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
756
|
103
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |