Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Deafness with onychodystrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Ataxia, photosensitivity, short stature syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Rare non-syndromic intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Piebald trait with neurologic defects syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Intellectual disability, severe speech delay, mild dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Alopecia, epilepsy, intellectual disability syndrome Moynahan type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Blepharophimosis, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Diabetes, hypogonadism, deafness, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Goldberg Shprintzen megacolon syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
9 |
Biemond syndrome type 2 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Blepharonasofacial malformation syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Achalasia microcephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
X-linked intellectual disability Atkin type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Oro-facial digital syndrome type 9 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Oro-facial digital syndrome type 11 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
9 |
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
X-linked intellectual disability with ataxia and apraxia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
X-linked neurodegenerative syndrome Hamel type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Fried syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability Seemanova type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Syndromic X-linked intellectual disability type 11 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability Shrimpton type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability Siderius type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability Stevenson type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability Stocco Dos Santos type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability Stoll type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability Turner type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability Van Esch type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability Wilson type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability Schimke type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability Pai type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability Miles Carpenter type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability Cilliers type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
X-linked intellectual disability Cantagrel type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability Armfield type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability Abidi type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Pallister W syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Uveal coloboma with cleft lip and palate and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
12q14 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Shprintzen Goldberg craniosynostosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Branchioskeletogenital syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Congenital cataract with ataxia and deafness syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
X-linked intellectual disability with cerebellar hypoplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Syndromic X-linked intellectual disability type 7 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Radioulnar synostosis with microcephaly and scoliosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Spondyloepiphyseal dysplasia tarda Kohn type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalus cardiomyopathy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Disorder of sex development with intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Cleft palate with short stature and vertebral anomaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
17q11.2 microduplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
19q13.11 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
1p21.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Chromosome Xp11.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
X-linked intellectual disability with seizure and psoriasis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
X-linked intellectual disability Cabezas type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability with plagiocephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability, macrocephaly, macroorchidism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability with acromegaly and hyperactivity syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Wilson Turner syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital hypoplasia of ulna and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Cystic fibrosis with gastritis and megaloblastic anemia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Aniridia and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Arachnodactyly with abnormal ossification and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Arachnodactyly and intellectual disability with facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Ataxia with deafness and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Brachymorphism with onychodysplasia and dysphalangism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Cerebro-facio-thoracic dysplasia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
Aural atresia with multiple congenital anomalies and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Cystic leukoencephalopathy without megalencephaly |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Cerebrooculonasal syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Filippi syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Fine Lubinsky syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Deafness with skeletal dysplasia and lip granuloma syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Alopecia, contracture, dwarfism, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Hair defect with photosensitivity and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Hall Riggs syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Postaxial polydactyly and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Short stature with webbed neck and congenital heart disease syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Deafness and intellectual disability Martin Probst type syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Intellectual disability, epilepsy, bulbous nose syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |