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 |