| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Klinefelter's syndrome XXXY |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Klinefelter's syndrome XXXXY |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
3 |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Klinefelter's syndrome NOS |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Distal Xq28 microduplication syndrome |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| [X]Other variants of Turner's syndrome |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| [X]Other male with 46,XX karyotype |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Ovarian dwarfism NEC |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Bonnevie-Ullrich syndrome NOS |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Turner's phenotype, other variant karyotypes |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Turner's syndrome NOS |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Paternal uniparental disomy of chromosome X |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Maternal uniparental disomy of chromosome X (disorder) |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Xp22.13p22.2 duplication syndrome |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Fragile X syndrome |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| X-linked acrogigantism due to Xq26 microduplication |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Choroideremia with deafness and obesity syndrome (disorder) |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
5 |
| Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| 49,XXXYY syndrome |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Choroideremia with deafness and obesity syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
6 |
| Chromosome Xq27.3q28 duplication syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Microduplication Xp11.22p11.23 syndrome (disorder) |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| syndrome de duplication Xq12-q13.3 |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Carrier of fragile X chromosome (finding) |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
3 |
| Xq25 microduplication syndrome |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Klinefelter's syndrome, XXY (disorder) |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Klinefelter's syndrome (disorder) |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
|
| [X]Other variants of Turner's syndrome |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Bonnevie-Ullrich syndrome NOS |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Ovarian dwarfism NEC |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Mosaicism 45, X; 46, XX |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Turner's syndrome NOS |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Turner's phenotype - ring chromosome karyotype |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Karyotype 46, X iso (Xq) |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Turner's phenotype, karyotype normal |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| syndrome de Turner |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Mixed gonadal dysgenesis |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Four X syndrome |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Turner's phenotype, other variant karyotypes |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Mosaicism 45, X / other cell line with abnormal sex chromosome |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Karyotype 46, X with abnormal sex chromosome except iso (Xq) |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Turner's phenotype, partial X deletion karyotype |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| [X]Other variants of Turner's syndrome |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| [X]Other variants of Turner's syndrome |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Ovarian dwarfism NEC |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Ovarian dwarfism NEC |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Bonnevie-Ullrich syndrome NOS |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Bonnevie-Ullrich syndrome NOS |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Turner's phenotype, other variant karyotypes |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Turner's phenotype, other variant karyotypes |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Turner's syndrome NOS |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Turner's syndrome NOS |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Mosaicism 45, X; 46, XX |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Mosaicism 45, X; 46, XX |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Turner's phenotype - ring chromosome karyotype |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Turner's phenotype - ring chromosome karyotype |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Karyotype 46, X iso (Xq) |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Karyotype 46, X iso (Xq) |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Turner's phenotype, karyotype normal |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Turner's phenotype, karyotype normal |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| syndrome de Turner |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| syndrome de Turner |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Mixed gonadal dysgenesis |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Mixed gonadal dysgenesis |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
3 |
| Four X syndrome |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Four X syndrome |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Mosaicism 45, X / other cell line with abnormal sex chromosome |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Mosaicism 45, X / other cell line with abnormal sex chromosome |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Karyotype 46, X with abnormal sex chromosome except iso (Xq) |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Karyotype 46, X with abnormal sex chromosome except iso (Xq) |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Turner's phenotype, partial X deletion karyotype |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Turner's phenotype, partial X deletion karyotype |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| [X]Other variants of Turner's syndrome |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| [X]Other variants of Turner's syndrome |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Ovarian dwarfism NEC |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Ovarian dwarfism NEC |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Bonnevie-Ullrich syndrome NOS |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Bonnevie-Ullrich syndrome NOS |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Turner's phenotype, other variant karyotypes |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Turner's phenotype, other variant karyotypes |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Turner's syndrome NOS |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Turner's syndrome NOS |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Mosaicism 45, X; 46, XX |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Mosaicism 45, X; 46, XX |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Turner's phenotype - ring chromosome karyotype |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Turner's phenotype - ring chromosome karyotype |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Karyotype 46, X iso (Xq) |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Karyotype 46, X iso (Xq) |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Turner's phenotype, karyotype normal |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Turner's phenotype, karyotype normal |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| syndrome de Turner |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| syndrome de Turner |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
| Mixed gonadal dysgenesis |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
4 |
| Mixed gonadal dysgenesis |
localisation d'une constatation (attribut) |
False |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
2 |
| Four X syndrome |
localisation d'une constatation (attribut) |
True |
Sex chromosome X (cell structure) |
Inferred relationship |
Some |
1 |
FHIR