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 |