Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
9q partial trisomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9q partial monosomy syndrome (disorder) |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anomaly of chromosome pair 9 |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ring chromosome 9 syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Partial tetrasomy of chromosome 9 (disorder) |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Complete trisomy 9 syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p partial trisomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9q partial trisomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Partial tetrasomy of chromosome 9 (disorder) |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anomaly of chromosome pair 9 |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ring chromosome 9 syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9q partial monosomy syndrome (disorder) |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Complete trisomy 9 syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p partial trisomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Complete trisomy 9 syndrome |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Partial tetrasomy of chromosome 9 (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9q partial trisomy syndrome |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p partial trisomy syndrome |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9q partial monosomy syndrome (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anomaly of chromosome pair 9 |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ring chromosome 9 syndrome |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9q partial monosomy syndrome (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
9p partial monosomy syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
9q22.3 deletion syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
9q22.3 deletion syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Tetrasomy of short arm of chromosome 9 (disorder) |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Monosomy 9q22.3 syndrome (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Monosomy 9q22.3 syndrome (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Deletion of part of chromosome 9 (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Partial trisomy of chromosome 9 (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Distal monosomy 9p syndrome (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Distal trisomy 9q |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p13 microdeletion syndrome (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mosaic trisomy 9 syndrome (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Non-distal trisomy 9q (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Mosaic trisomy 9 syndrome (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p13 microdeletion syndrome (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Distal monosomy 9p syndrome (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Trisomy 9 (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Maternal uniparental disomy of chromosome 9 |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9q22.3 deletion syndrome |
Finding site |
False |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
9q31.1q31.3 microdeletion syndrome |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
9q31.1q31.3 microdeletion syndrome |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
9p24.3 deletion syndrome (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9p24.3 deletion syndrome (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
9q34 deletion syndrome (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9q34 deletion syndrome (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Distal deletion of long arm of chromosome 9 |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Distal deletion of long arm of chromosome 9 |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Distal trisomy 9p |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Medial deletion of long arm of chromosome 9 (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Medial deletion of long arm of chromosome 9 (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Medial duplication of long arm of chromosome 9 (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Proximal duplication of short arm of chromosome 9 |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Proximal duplication of long arm of chromosome 9 (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Proximal deletion of long arm of chromosome 9 |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Proximal deletion of long arm of chromosome 9 |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Proximal deletion of short arm of chromosome 9 |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Proximal deletion of short arm of chromosome 9 |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tetrasomy of short arm of chromosome 9 (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9q33.3q34.11 microdeletion syndrome (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9q33.3q34.11 microdeletion syndrome (disorder) |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
9q21.13 microdeletion syndrome |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
9q21.13 microdeletion syndrome |
Finding site |
True |
Chromosome pair 9 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |