EAR, PATELLA, SHORT STATURE SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
78
|
12
|
0.610 |
None |
1.000 |
1 |
3
|
2015 |
2015 |
MEIER-GORLIN SYNDROME 6
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.600 |
None |
1.000 |
2 |
3
|
2015 |
2019 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.410 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.330 |
None |
1.000 |
4 |
|
2006 |
2017 |
PITUITARY DWARFISM I
|
disease |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
25
|
9
|
0.310 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Seckel syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
56
|
3
|
0.300 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Chronic myeloproliferative disorder
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
366
|
47
|
0.300 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
1.000 |
13 |
|
2004 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.100 |
None |
1.000 |
10 |
|
2004 |
2019 |
Simple syndactyly of toes, first web space
|
disease |
|
Congenital Abnormality
|
5
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
1.000 |
1 |
2
|
2015 |
2015 |
Tracheomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
30
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Long eyelashes
|
phenotype |
|
Finding
|
83
|
17
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Small hand
|
phenotype |
|
Finding
|
108
|
31
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Severe failure to thrive
|
phenotype |
|
Finding
|
14
|
4
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
13
|
0.100 |
None |
1.000 |
1 |
2
|
2015 |
2015 |
Abnormality of the pinna
|
phenotype |
|
Finding
|
85
|
9
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Subglottic stenosis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Anatomical Abnormality
|
17
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Short palpebral fissure
|
phenotype |
|
Finding
|
91
|
16
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Hip Dysplasia
|
disease |
Musculoskeletal Diseases; Wounds and Injuries
|
Anatomical Abnormality
|
128
|
16
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Intrauterine retardation
|
phenotype |
|
Pathologic Function
|
41
|
56
|
0.100 |
None |
1.000 |
1 |
2
|
2015 |
2015 |