SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.760 |
None |
1.000 |
7 |
4
|
2010 |
2019 |
INFANTILE LIVER FAILURE SYNDROME 2
|
disease |
|
Disease or Syndrome
|
2
|
12
|
0.730 |
None |
1.000 |
6 |
12
|
2015 |
2019 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.420 |
strong |
1.000 |
3 |
2
|
2015 |
2017 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.320 |
strong |
1.000 |
2 |
1
|
2015 |
2017 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3806
|
615
|
0.310 |
None |
1.000 |
2 |
|
2011 |
2016 |
Stomach Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
820
|
55
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Hereditary Diffuse Gastric Cancer
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
312
|
119
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Disease Exacerbation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
166
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Increased susceptibility to fractures
|
phenotype |
|
Finding
|
42
|
5
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Immunologic Deficiency Syndromes
|
group |
Immune System Diseases
|
Disease or Syndrome
|
973
|
31
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Liver Failure, Acute
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
282
|
21
|
0.190 |
None |
1.000 |
9 |
1
|
2015 |
2019 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.140 |
None |
1.000 |
4 |
1
|
2010 |
2017 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.130 |
None |
1.000 |
3 |
|
2010 |
2017 |
Major Depressive Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1236
|
1451
|
0.110 |
None |
1.000 |
2 |
1
|
2018 |
2018 |
Icterus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
241
|
17
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
mathematical ability
|
phenotype |
|
Mental Process
|
854
|
2127
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Hepatitis B, Chronic
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
415
|
84
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
160
|
6
|
0.100 |
None |
|
0 |
|
|
|
Achromatopsia
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
26
|
63
|
0.100 |
None |
|
0 |
|
|
|
Thin lips
|
phenotype |
|
Finding
|
99
|
8
|
0.100 |
None |
|
0 |
|
|
|
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
186
|
20
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
|
|
|
Reduced visual acuity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
147
|
10
|
0.100 |
None |
|
0 |
|
|
|
Micromelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
104
|
1
|
0.100 |
None |
|
0 |
|
|
|
Vomiting
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
303
|
23
|
0.100 |
None |
|
0 |
|
|
|