MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES
|
disease |
|
Disease or Syndrome
|
1
|
10
|
0.620 |
None |
1.000 |
4 |
10
|
2017 |
2019 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.420 |
None |
1.000 |
2 |
|
2017 |
2019 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.410 |
None |
1.000 |
2 |
|
2017 |
2019 |
Microcephaly-Micromelia Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
1
|
0.400 |
None |
1.000 |
2 |
1
|
2017 |
2017 |
Microlissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
1
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Severe Congenital Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
35
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Colorectal Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1296
|
609
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Psoriasis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1308
|
705
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Absent finger
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Absent radius
|
disease |
|
Congenital Abnormality
|
24
|
1
|
0.100 |
None |
|
0 |
|
|
|
Ramer Ladda syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of radius
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
37
|
5
|
0.100 |
None |
|
0 |
|
|
|
Mesomelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
27
|
4
|
0.100 |
None |
|
0 |
|
|
|
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
|
0 |
|
|
|
Narrow thorax
|
phenotype |
|
Finding
|
112
|
18
|
0.100 |
None |
|
0 |
|
|
|
Short metacarpal
|
phenotype |
|
Finding
|
66
|
7
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the ribs
|
disease |
|
Anatomical Abnormality
|
69
|
5
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
|
|
|
Short tibia
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Forearm undergrowth
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the corpus callosum
|
phenotype |
|
Finding
|
108
|
8
|
0.100 |
None |
|
0 |
|
|
|
Cortical gyral simplification
|
phenotype |
|
Finding
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|