Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
|
|
|
Encephalomyelitis
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
865
|
7
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Epithelial ovarian cancer
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
1224
|
129
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Erythroleukemia (Erythroid/Myeloid)
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
237
|
4
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
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 |
|
|
|
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture
|
disease |
Musculoskeletal Diseases
|
Finding
|
210
|
32
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
770
|
198
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Glaucoma of childhood
|
disease |
Eye Diseases
|
Disease or Syndrome
|
30
|
15
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Hepatitis
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
656
|
42
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Hepatitis A
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
451
|
27
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Hepatitis C
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1768
|
347
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
High density lipoprotein measurement
|
phenotype |
|
Laboratory Procedure
|
545
|
1440
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hormone refractory prostate cancer
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
683
|
29
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hydrophthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
60
|
11
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.400 |
strong |
1.000 |
1 |
|
2005 |
2005 |
Kyphoscoliosis deformity of spine
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
155
|
17
|
0.100 |
None |
|
0 |
|
|
|
Lip and Oral Cavity Carcinoma
|
disease |
Neoplasms; Stomatognathic Diseases
|
Neoplastic Process
|
734
|
172
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.070 |
None |
1.000 |
7 |
|
1999 |
2016 |
Liver neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1424
|
7
|
0.050 |
None |
1.000 |
5 |
|
1999 |
2015 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Malignant neoplasm of colon and/or rectum
|
disease |
|
Neoplastic Process
|
3669
|
502
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |