Confetti-like hypopigmented macules
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.100 |
None |
|
0 |
|
|
|
Chylopericardium
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Urine Discoloration
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
|
|
|
Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
760
|
67
|
0.100 |
None |
|
0 |
|
|
|
CUI: |
C0015967 |
Disease: |
Fever
|
Fever
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
1021
|
66
|
0.100 |
None |
|
0 |
|
|
|
Fibromatosis, Gingival
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Anatomical Abnormality
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Gastrointestinal Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Pathologic Function
|
122
|
24
|
0.100 |
None |
|
0 |
|
|
|
Lymphadenopathy
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
277
|
5
|
0.100 |
None |
|
0 |
|
|
|
Wolff-Parkinson-White Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
48
|
22
|
0.100 |
None |
|
0 |
|
|
|
Intracranial Hypertension
|
disease |
Nervous System Diseases
|
Finding
|
72
|
1
|
0.100 |
None |
|
0 |
|
|
|
Recurrent respiratory infections
|
phenotype |
Infections; Respiratory Tract Diseases
|
Finding
|
318
|
7
|
0.100 |
None |
|
0 |
|
|
|
Electroencephalogram abnormal
|
phenotype |
Nervous System Diseases
|
Finding
|
227
|
27
|
0.100 |
None |
|
0 |
|
|
|
Restrictive ventilatory defect
|
phenotype |
|
Finding
|
61
|
8
|
0.100 |
None |
|
0 |
|
|
|
Multiple renal cysts
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
46
|
4
|
0.100 |
None |
|
0 |
|
|
|
Periungual fibroma
|
disease |
Neoplasms
|
Neoplastic Process
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Dyspnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
222
|
26
|
0.100 |
None |
|
0 |
|
|
|
Pathological accumulation of air in tissues
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
69
|
6
|
0.100 |
None |
|
0 |
|
|
|
Cortical tubers
|
phenotype |
|
Finding
|
3
|
4
|
0.100 |
None |
|
0 |
2
|
|
|
Gingivitis
|
disease |
Infections; Stomatognathic Diseases
|
Disease or Syndrome
|
152
|
3
|
0.100 |
None |
|
0 |
|
|
|
Cafe au lait spots, multiple
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
61
|
13
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the corpus callosum
|
phenotype |
|
Finding
|
108
|
8
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|
Dental enamel pits
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
1
|
|
|