Short distal phalanx of the thumb
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Sella Turcica, Bridged
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Spinal fusion
|
disease |
|
Anatomical Abnormality
|
67
|
2
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
BASAL CELL CARCINOMA, SOMATIC
|
disease |
|
Neoplastic Process
|
5
|
7
|
0.400 |
moderate |
|
0 |
1
|
|
|
Abnormality of the sense of smell
|
phenotype |
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Irregular ossification of hand bones
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Carcinoma, Ovarian Epithelial
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2841
|
327
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the sternum
|
phenotype |
|
Anatomical Abnormality
|
46
|
11
|
0.100 |
None |
|
0 |
|
|
|
Broad face
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Parietal bossing
|
phenotype |
|
Finding
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
Calcification of falx cerebri
|
disease |
|
Disease or Syndrome
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Vertebral wedging
|
disease |
|
Anatomical Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Keratocystic Odontogenic Tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
59
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short 4th metacarpal
|
phenotype |
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|
Plantar pits
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
|
|
|
Down-sloping shoulders
|
phenotype |
|
Finding
|
32
|
4
|
0.100 |
None |
|
0 |
|
|
|
Bifid ribs
|
phenotype |
|
Anatomical Abnormality
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Orbital cyst
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Eye Diseases
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.100 |
None |
|
0 |
|
|
|
Sprengel deformity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
29
|
4
|
0.100 |
None |
|
0 |
|
|
|
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.100 |
None |
|
0 |
|
|
|