SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
3
|
0.700 |
None |
1.000 |
2 |
3
|
2006 |
2016 |
Jarcho-Levin syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
12
|
14
|
0.420 |
limited |
1.000 |
2 |
1
|
2018 |
2019 |
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
7
|
16
|
0.300 |
None |
|
0 |
|
|
|
Forced expiratory volume function
|
phenotype |
|
Organ or Tissue Function
|
272
|
1169
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
response to bronchodilator
|
phenotype |
|
Organism Function
|
131
|
1106
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Abnormality of immune system physiology
|
phenotype |
|
Pathologic Function
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of female internal genitalia
|
disease |
|
Anatomical Abnormality
|
31
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal form of the vertebral bodies
|
phenotype |
|
Finding
|
89
|
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary Venous Return Anomaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
235
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital meningocele
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
33
|
|
0.100 |
None |
|
0 |
|
|
|
Fistula of genitourinary tract
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the ureter
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the odontoid process
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Broad forehead
|
phenotype |
|
Finding
|
133
|
13
|
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 |
|
|
|
Abnormality of the intervertebral disk
|
disease |
|
Anatomical Abnormality
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Rib segmentation abnormalities
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Long philtrum
|
phenotype |
|
Finding
|
282
|
16
|
0.100 |
None |
|
0 |
|
|
|
Low-set, posteriorly rotated ears
|
phenotype |
|
Finding
|
223
|
19
|
0.100 |
None |
|
0 |
|
|
|
Slender finger
|
phenotype |
|
Finding
|
20
|
5
|
0.100 |
None |
|
0 |
|
|
|