SMITH-KINGSMORE SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.720 |
strong |
1.000 |
7 |
7
|
2015 |
2019 |
Irregular hyperpigmentation of back
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Delayed ability to stand
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Waldenstrom's macroglobulinaemia refractory
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Neoplastic Process
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Alternating Exotropia
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Macular hypopigmented whorls, streaks, and patches
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
strong |
|
0 |
|
|
|
Chylous effusion
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Central odontogenic fibroma
|
disease |
Neoplasms
|
Neoplastic Process
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Vertebral arch anomaly
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Hyperpigmented streaks
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Extra-axial cerebrospinal fluid accumulation
|
phenotype |
|
Finding
|
2
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Tachycardia, Ectopic Atrial
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Acute myeloid leukemia in remission
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Type II Endometrial Adenocarcinoma
|
disease |
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Pauci-immune glomerulonephritis
|
disease |
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Delayed ability to sit
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Ectopic Tissue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
3
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Focal Cortical Dysplasia of Taylor, Type IIa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
|
0 |
|
|
|
Focal Cortical Dysplasia of Taylor, Type IIb
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
|
0 |
|
|
|
Short proximal phalanx of finger
|
phenotype |
|
Congenital Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Gastrointestinal stromal tumor of small intestine
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Linear hyperpigmentation
|
phenotype |
|
Finding
|
4
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Severe receptive language delay
|
disease |
|
Mental or Behavioral Dysfunction
|
4
|
4
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Premature birth following premature rupture of fetal membranes
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
5
|
4
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |