| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Intellectual disability, severe speech delay, mild dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Moynahan syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Blepharophimosis, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Woodhouse Sakati syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
| Goldberg Shprintzen megacolon syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
10 |
| Biemond syndrome type 2 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Blepharonasofacial malformation syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| BRESEK syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Achalasia microcephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Atkin Flaitz syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Orofaciodigital syndrome type 9 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
| Orofaciodigital syndrome type 11 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
10 |
| Spondyloepiphyseal dysplasia Nishimura type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| X-linked intellectual disability with ataxia and apraxia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| X-linked neurodegenerative syndrome Hamel type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Fried syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| X-linked intellectual disability Seemanova type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Shashi type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Shrimpton type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Siderius type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Stevenson type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| X-linked intellectual disability Stocco Dos Santos type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Stoll type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Turner type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Van Esch type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| X-linked intellectual disability Wilson type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Schimke type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Pai type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Miles-Carpenter type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Cilliers type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| X-linked intellectual disability Cantagrel type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Armfield type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Abidi type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| W syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Uveal coloboma with cleft lip and palate and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| 12q14 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
| Shprintzen-Goldberg syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Branchioskeletogenital syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Congenital cataract with ataxia and deafness syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
| X-linked intellectual disability with cerebellar hypoplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability with cubitus valgus and dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
| X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Syndromic X-linked intellectual disability type 7 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Syndromic X-linked intellectual disability due to JARID1C mutation |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Radioulnar synostosis with microcephaly and scoliosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
| Spondyloepiphyseal dysplasia tarda Kohn type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Microcephaly with brachydactyly and kyphoscoliosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
| Microcephaly cardiomyopathy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Disorder of sex development with intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Cleft palate with short stature and vertebral anomaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| 17q11.2 microduplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| 19q13.11 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| 1p21.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| DOORS syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
| Chromosome Xp11.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| X-linked intellectual disability with seizure and psoriasis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| X-linked intellectual disability Cabezas type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability with plagiocephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| X-linked intellectual disability with acromegaly and hyperactivity syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Wilson Turner syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Congenital hypoplasia of ulna and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Temtamy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Cystic fibrosis with gastritis and megaloblastic anaemia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
| Aniridia and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Arachnodactyly with abnormal ossification and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Arachnodactyly and intellectual disability with facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Ataxia with deafness and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Brachymorphism with onychodysplasia and dysphalangism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Cerebro-facio-thoracic dysplasia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| CHIME syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
9 |
| Cooper Jabs syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Cystic leucoencephalopathy without megalencephaly |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Cerebrooculonasal syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Filippi syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
| Fine Lubinsky syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Fountain syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Alopecia, contracture, dwarfism, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Hair defect with photosensitivity and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Hall Riggs syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Oliver syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
| Short stature with webbed neck and congenital heart disease syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
| Deafness and intellectual disability Martin Probst type syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
| Hernandez Aguirre Negrete syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
| Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
| Ectodermal dysplasia with blindness syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
| Hypogonadism with mitral valve prolapse and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
| GAPO syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
9 |
| Juberg Marsidi syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |