Abnormality of the liver
|
phenotype |
|
Finding
|
75
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Hippocampal sclerosis
|
disease |
|
Disease or Syndrome
|
84
|
14
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Heart failure with preserved ejection fraction [HFpEF]
|
disease |
|
Disease or Syndrome
|
89
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Fatty Liver, Alcoholic
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
94
|
6
|
0.200 |
None |
1.000 |
1 |
|
2002 |
2002 |
Brain Infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
114
|
11
|
0.200 |
None |
1.000 |
1 |
|
1998 |
1998 |
Hypotension
|
phenotype |
Cardiovascular Diseases
|
Finding
|
125
|
2
|
0.200 |
None |
1.000 |
1 |
|
1997 |
1997 |
Severe global developmental delay
|
phenotype |
|
Finding
|
130
|
50
|
0.100 |
None |
|
0 |
|
|
|
Hyperbilirubinemia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
131
|
27
|
0.100 |
None |
|
0 |
|
|
|
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
142
|
2
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
148
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
160
|
3
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Drug Resistant Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
184
|
35
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2011 |
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
bone destruction
|
disease |
|
Disease or Syndrome
|
234
|
3
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Anoxia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
287
|
|
0.310 |
None |
1.000 |
2 |
|
2008 |
2009 |
Lymphoproliferative Disorders
|
group |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
300
|
14
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Vascular inflammations
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
305
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Adenoid Cystic Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
325
|
30
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Epilepsy, Temporal Lobe
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
354
|
33
|
0.210 |
None |
1.000 |
2 |
|
2011 |
2012 |
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.100 |
None |
|
0 |
|
|
|
Neutropenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
389
|
97
|
0.010 |
None |
1.000 |
1 |
1
|
2015 |
2015 |