SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY
|
disease |
|
Finding
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
RETINITIS PIGMENTOSA 71
|
disease |
|
Disease or Syndrome
|
2
|
7
|
0.700 |
strong |
1.000 |
2 |
7
|
2013 |
2015 |
Breathing abnormally deep
|
phenotype |
Respiratory Tract Diseases
|
Sign or Symptom
|
2
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
|
disease |
|
Disease or Syndrome
|
2
|
8
|
0.600 |
strong |
1.000 |
1 |
8
|
2013 |
2013 |
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
|
disease |
|
Finding
|
2
|
7
|
0.100 |
None |
|
0 |
7
|
|
|
VACTERL Association With Hydrocephalus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
5
|
7
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Mainzer-Saldino Disease
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
20
|
0.510 |
strong |
1.000 |
1 |
|
2013 |
2013 |
Thoracic dysplasia
|
disease |
|
Congenital Abnormality
|
6
|
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
VATER Association
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
12
|
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Hooked clavicle
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Saldino-Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
108
|
0.300 |
None |
|
0 |
|
|
|
Majewski Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
20
|
31
|
0.400 |
None |
|
0 |
1
|
|
|
Cone-shaped epiphyses of the phalanges of the hand
|
phenotype |
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Short Rib-Polydactyly Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
21
|
13
|
0.300 |
None |
|
0 |
|
|
|
Bell-shaped thorax
|
phenotype |
|
Finding
|
26
|
7
|
0.100 |
None |
|
0 |
|
|
|
Medial flaring of the eyebrow
|
disease |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Jeune thoracic dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
116
|
0.500 |
strong |
1.000 |
1 |
|
2013 |
2013 |
Aplasia/Hypoplasia of the lungs
|
phenotype |
|
Finding
|
29
|
|
0.100 |
None |
|
0 |
|
|
|
Thoracic hypoplasia
|
disease |
|
Congenital Abnormality
|
32
|
16
|
0.100 |
None |
|
0 |
|
|
|
Attenuation of retinal blood vessels
|
phenotype |
|
Finding
|
41
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short long bone
|
phenotype |
|
Finding
|
42
|
19
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the clavicle
|
disease |
|
Anatomical Abnormality
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of ovary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Postaxial foot polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
45
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the sternum
|
phenotype |
|
Anatomical Abnormality
|
46
|
11
|
0.100 |
None |
|
0 |
|
|
|