Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Chromosome Xq27.3q28 duplication syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
1 |
Chromosome Xp11.3 microdeletion syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Some |
2 |
Chromosome Xp11.3 microdeletion syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
3 |
Trisomy Xq28 |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Some |
2 |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
5 |
Microduplication Xp11.22p11.23 syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
1 |
X-linked diffuse leiomyomatosis with Alport syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Some |
4 |
Xp22.3 microdeletion syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Some |
2 |
Xp22.3 microdeletion syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
3 |
Atypical Norrie disease due to monosomy Xp11.3 |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Some |
2 |
Atypical Norrie disease due to monosomy Xp11.3 |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
3 |
Klinefelter syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
|
Trisomy X syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Some |
1 |
Turner syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
1 |
XXXXY syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
1 |
Penta X syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
1 |
XX males |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
1 |
XXXY syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
1 |
Mixed gonadal dysgenesis |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
3 |
Xq12-q13.3 duplication syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
1 |
Small ring X chromosome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Some |
1 |
X-linked acrogigantism |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
2 |
49,XXXYY syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
1 |
Turner's phenotype, karyotype normal |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
1 |
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
1 |
Klinefelter's syndrome, XXYY |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
1 |
Klinefelter's syndrome, XY/XXY mosaic |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
1 |
Turner's phenotype, partial X deletion karyotype |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Some |
1 |