SPONDYLOCOSTAL DYSOSTOSIS 5
|
disease |
|
Disease or Syndrome
|
2
|
|
0.900 |
strong |
1.000 |
2 |
9
|
1985 |
2015 |
Congenital hemivertebra
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
44
|
|
0.120 |
None |
1.000 |
0 |
|
2015 |
2017 |
Red Blood Cell Count measurement
|
phenotype |
|
Laboratory Procedure
|
717
|
|
0.100 |
None |
1.000 |
3 |
1
|
2016 |
2019 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
641
|
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2019 |
Blood basophil count (lab test)
|
phenotype |
|
Laboratory Procedure
|
272
|
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Eosinophil count procedure
|
phenotype |
|
Laboratory Procedure
|
610
|
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
773
|
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Mean Corpuscular Volume (result)
|
phenotype |
|
Laboratory or Test Result
|
269
|
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Abnormality of cardiovascular system morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
172
|
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
|
0.100 |
None |
|
0 |
|
|
|
Posterior rib fusion
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Butterfly vertebrae
|
phenotype |
|
Congenital Abnormality
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Disproportionate short-trunk short stature
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of female internal genitalia
|
disease |
|
Anatomical Abnormality
|
31
|
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal sacrum morphology
|
disease |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent respiratory infections
|
phenotype |
Infections; Respiratory Tract Diseases
|
Finding
|
318
|
|
0.100 |
None |
|
0 |
|
|
|
Prominent occiput
|
phenotype |
|
Finding
|
53
|
|
0.100 |
None |
|
0 |
|
|
|
Spinal fusion
|
disease |
|
Anatomical Abnormality
|
29
|
|
0.100 |
None |
|
0 |
|
|
|
Short neck
|
phenotype |
|
Finding
|
288
|
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1039
|
|
0.100 |
None |
|
0 |
|
|
|
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
432
|
|
0.100 |
None |
|
0 |
|
|
|
Lordosis
|
phenotype |
Musculoskeletal Diseases
|
Disease or Syndrome
|
135
|
|
0.100 |
None |
|
0 |
|
|
|
Low Back Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
855
|
|
0.100 |
None |
|
0 |
|
|
|