Smooth philtrum
|
phenotype |
|
Finding
|
105
|
10
|
0.100 |
None |
|
0 |
|
|
|
Parathyroid Adenoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
133
|
12
|
0.100 |
None |
|
0 |
|
|
|
Cardiovascular Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
99
|
12
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
Medullary carcinoma of thyroid
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
330
|
71
|
0.100 |
None |
|
0 |
|
|
|
Small for gestational age (disorder)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
181
|
34
|
0.100 |
None |
|
0 |
|
|
|
Delayed myelination
|
phenotype |
Mental Disorders
|
Finding
|
112
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hypocholesterolemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
113
|
22
|
0.100 |
None |
|
0 |
|
|
|
Electroencephalogram abnormal
|
phenotype |
Nervous System Diseases
|
Finding
|
227
|
27
|
0.100 |
None |
|
0 |
|
|
|
Papule
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
76
|
131
|
0.100 |
None |
|
0 |
|
|
|
Malocclusion
|
disease |
Stomatognathic Diseases
|
Anatomical Abnormality
|
128
|
10
|
0.100 |
None |
|
0 |
|
|
|
Pilocytic Astrocytoma
|
disease |
Neoplasms
|
Neoplastic Process
|
163
|
14
|
0.100 |
None |
|
0 |
1
|
|
|
Echolalia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Multiple lipomata
|
disease |
Neoplasms
|
Neoplastic Process
|
38
|
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
305
|
22
|
0.100 |
None |
|
0 |
|
|
|
NONPAPILLARY RENAL CARCINOMA 1 LOCUS
|
phenotype |
|
Finding
|
1
|
|
0.200 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Large intestinal polyposis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Bronchopulmonary Sequestration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Hereditary nonpolyposis colorectal carcinoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
28
|
5
|
0.100 |
None |
|
0 |
|
|
|
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the pleura
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|