| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Microcephalus cardiomyopathy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Disorder of sex development with intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Cleft palate with short stature and vertebral anomaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| 17q11.2 microduplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| 19q13.11 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| 1p21.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Chromosome Xp11.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| X-linked intellectual disability with seizure and psoriasis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| X-linked intellectual disability Cabezas type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked intellectual disability with plagiocephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| X-linked intellectual disability, macrocephaly, macroorchidism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| X-linked intellectual disability with acromegaly and hyperactivity syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Wilson Turner syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital hypoplasia of ulna and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Cystic fibrosis with gastritis and megaloblastic anemia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Aniridia and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Arachnodactyly with abnormal ossification and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Arachnodactyly and intellectual disability with facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Ataxia with deafness and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Brachymorphism with onychodysplasia and dysphalangism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Cerebro-facio-thoracic dysplasia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
9 |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Cystic leukoencephalopathy without megalencephaly |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Cerebrooculonasal syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Filippi syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Fine Lubinsky syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Deafness with skeletal dysplasia and lip granuloma syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Alopecia, contracture, dwarfism, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Hair defect with photosensitivity and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Hall Riggs syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Postaxial polydactyly and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Short stature with webbed neck and congenital heart disease syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Deafness and intellectual disability Martin Probst type syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Intellectual disability, epilepsy, bulbous nose syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Ectodermal dysplasia with blindness syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Hypogonadism with mitral valve prolapse and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
9 |
| Juberg Marsidi syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Radioulnar synostosis with developmental delay and hypotonia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Lipodystrophy, intellectual disability, deafness syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Lowry MacLean syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Intellectual disability, balding, patella luxation, acromicria syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Intellectual disability with cataract and kyphosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Kapur Toriello syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Macrocephaly, short stature, paraplegia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
10 |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Oculopalatocerebral syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Oculocerebrofacial syndrome Kaufman type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Okamoto syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Oro-facial digital syndrome type 10 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Oro-facial digital syndrome type 5 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Oro-facial digital syndrome type 8 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Ossification anomaly with psychomotor developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome |
Has interpretation |
False |
Impaired |
Inferred relationship |
Existential restriction modifier |
9 |
| Severe X-linked intellectual disability Gustavson type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Congenital cataract with deafness and hypogonadism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Congenital cataract with hypertrichosis and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Intellectual disability, developmental delay, contracture syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Toriello Carey syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Skeletal dysplasia with intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Microcephaly, seizure, intellectual disability, heart disease syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Isodicentric chromosome 15 syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Faciocardiorenal syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Fallot complex with intellectual disability and growth delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Hypotrichosis and intellectual disability syndrome Lopes type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Microbrachycephaly, ptosis, cleft lip syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| N syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Non-progressive cerebellar ataxia with intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Phosphoribosylpyrophosphate synthetase superactivity |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Ramos Arroyo syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Has interpretation |
False |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Seizures and intellectual disability due to hydroxylysinuria syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Laryngeal abductor paralysis with intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Kleefstra syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Infantile choroidocerebral calcification syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Temple Baraitser syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| X-linked spasticity, intellectual disability, epilepsy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| 5-amino-4-imidazole carboxamide ribosiduria |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Bullous dystrophy macular type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Intellectual disability Buenos Aires type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |