Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
X-linked diffuse leiomyomatosis with Alport syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
4 |
Chromosome Xp22.3 microdeletion syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
2 |
Chromosome Xp22.3 microdeletion syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
3 |
Atypical Norrie disease due to monosomy Xp11.3 |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
2 |
Atypical Norrie disease due to monosomy Xp11.3 |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
3 |
Xq12-q13.3 duplication syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
1 |
Small ring X chromosome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked acrogigantism |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
2 |
49,XXXYY syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
1 |
Intellectual disability, seizures, macrocephaly, obesity syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
3 |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
2 |
Distal Xq28 microduplication syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
1 |
Paternal uniparental disomy of chromosome X |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
1 |
Maternal uniparental disomy of chromosome X |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
1 |
Xp22.13p22.2 duplication syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
2 |
Fragile X syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked acrogigantism due to Xq26 microduplication |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
1 |
Choroideremia with deafness and obesity syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
5 |
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
1 |
49,XXXYY syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
2 |
Choroideremia with deafness and obesity syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
6 |
Chromosome Xq27.3q28 duplication syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
2 |
Microduplication Xp11.22p11.23 syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
2 |
Xq12-q13.3 duplication syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
2 |
Carrier of fragile X chromosome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
3 |
Xq25 microduplication syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
2 |
Symptomatic form of fragile X syndrome in female carrier |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked myotubular myopathy, abnormal genitalia syndrome |
Finding site |
True |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
4 |
[X]Other male with 46,XX karyotype |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
1 |
[X]Other variants of Turner's syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
2 |
[X]Other variants of Turner's syndrome |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
1 |
[X]Other male with 46,XX karyotype |
Finding site |
False |
Sex chromosome X |
Inferred relationship |
Existential restriction modifier |
2 |