Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
16p11.2p12.2 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
16p11.2p12.2 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
16p11.2p12.2 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
16p13.11 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
16p13.11 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Distal 16p11.2 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Distal 16p11.2 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Short stature disorder due to osteosclerosis |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Epiphyseal arrest due to kidney disease |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Epiphyseal arrest due to disorder of endocrine system |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Supernumerary bone of foot |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital anomaly of blood vessel of spine |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital dilatation of common bile duct |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Cystic dysplasia of kidney |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Cystic dysplasia of kidney |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Supernumerary eye muscle |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Combined deficiency of sialidase AND beta galactosidase |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
49,XXXYY syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
49,XXXYY syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Choroideremia with deafness and obesity syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Choroideremia with deafness and obesity syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
6 |
Chromosome Xq27.3q28 duplication syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Chromosome Xq27.3q28 duplication syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Distal Xq28 microduplication syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Four X syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Four X syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Microduplication Xp11.22p11.23 syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Microduplication Xp11.22p11.23 syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
FRAXF syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
FRAXE intellectual disability syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Distal 7q11.23 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Distal 7q11.23 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Distal monosomy 7q36 syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Distal monosomy 7q36 syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
7q31 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
7q31 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Proteus like syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Fibrolipoma of filum terminale |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Hydrocephalus, tall stature, joint laxity syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
5 |
Xq12-q13.3 duplication syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Xq12-q13.3 duplication syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Double Y syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
48,XYYY syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
49,XYYYY syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Supernumerary cusp of tooth |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Supernumerary root of tooth |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Accessory carpal bone of right wrist |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Accessory carpal bone of bilateral wrists |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Accessory carpal bone of bilateral wrists |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Accessory carpal bone of left wrist |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Metatarsus primus varus of left foot |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Metatarsus primus varus of right foot |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Metatarsus primus varus of bilateral feet |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Metatarsus primus varus of bilateral feet |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Distomolar supernumerary tooth |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Paramolar supernumerary tooth |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital hydronephrosis due to ureteral orifice obstruction |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital obstruction of ureter |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital hydronephrosis due to bladder obstruction |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital hydronephrosis due to ureteropelvic junction obstruction |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital hydronephrosis due to ureteropelvic junction obstruction |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital lumbosacral spondylolisthesis |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Mild androgen insensitivity syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Mild androgen insensitivity syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Infertile male syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Infertile male syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked intellectual disability hypotonic face syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Developmental abnormality of nail |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Micronychia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Trachyonychia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Macronychia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Racket nail |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Median nail dystrophy of Heller |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Twenty nail dystrophy |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital pterygium of nail |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Pterygium of nail |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Dorsal pterygium of nail |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Pterygium inversum unguis |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Nail pterygium in lichen planus |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Acquired pterygium of nail |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital pterygium of nail |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital arcus juvenilis |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive epidermolysis bullosa simplex |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive Emery-Dreifuss muscular dystrophy |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked Emery-Dreifuss muscular dystrophy |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Juvenile osteochondrosis of tarsus |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Cavernous lymphangioma |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Mosaic trisomy 10 syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
Mosaic trisomy 10 syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
3q29 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
3q29 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
3q26q27 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
3q26q27 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
3q13 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
3q13 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |
6p22 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
2 |
6p22 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Existential restriction modifier |
1 |