| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Skeletal dysplasia with intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Microcephaly, seizure, intellectual disability, heart disease syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Isodicentric chromosome 15 syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Faciocardiorenal syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Fallot complex with intellectual disability and growth delay syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Hypotrichosis and intellectual disability syndrome Lopes type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Microbrachycephaly, ptosis, cleft lip syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| N syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Non-progressive cerebellar ataxia with intellectual disability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Phosphoribosylpyrophosphate synthetase superactivity |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Ramos Arroyo syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Interprets |
False |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Seizures and intellectual disability due to hydroxylysinuria syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Macrocephaly, obesity, mental disability, ocular abnormality syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Laryngeal abductor paralysis with intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Kleefstra syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Infantile choroidocerebral calcification syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Temple Baraitser syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| X-linked spasticity, intellectual disability, epilepsy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| 5-amino-4-imidazole carboxamide ribosiduria |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Bullous dystrophy macular type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Intellectual disability Buenos Aires type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Neurofaciodigitorenal syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Caudal appendage deafness syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
7 |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
7 |
| Weaver Williams syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Intellectual disability, cataract, calcified pinna, myopathy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| X-linked intellectual disability Hedera type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| X-linked intellectual disability Nascimento type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Cortical blindness, intellectual disability, polydactyly syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Osteopenia, intellectual disability, sparse hair syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Brachydactyly and preaxial hallux varus syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Spastic paraplegia with precocious puberty syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Branchial dysplasia, intellectual disability, inguinal hernia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Epilepsy, microcephaly, skeletal dysplasia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Epilepsy telangiectasia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Encephalopathy, intracerebral calcification, retinal degeneration syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
7 |
| Pseudoprogeria syndrome |
Interprets |
False |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
7 |
| Preaxial polydactyly, colobomata, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Van den Bosch syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Aniridia, renal agenesis, psychomotor retardation syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Thumb stiffness, brachydactyly, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Trigonocephaly C syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Skeletal dysplasia with epilepsy and short stature syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| McDonough syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Goniodysgenesis with intellectual disability and short stature syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Craniofacial digital and genital anomalies syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Hypospadias and intellectual disability syndrome Goldblatt type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Early onset parkinsonism and intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Microcephaly with deafness and intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Alopecia and intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Intellectual disability and short stature with hand contracture and genital anomaly syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Female restricted epilepsy with intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| FRAXE intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Trisomy 10p |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Microphthalmia with ankyloblepharon and intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Wolf Hirschhorn syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
1 |
| Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Spastic paraplegia, glaucoma, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Microcephalus, glomerulonephritis, marfanoid habitus syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Megalocornea with intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Temtamy preaxial brachydactyly syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Blepharophimosis, intellectual disability syndrome, Verloes type |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Severe intellectual disability and progressive spastic paraplegia |
Interprets |
False |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Atypical hypotonia cystinuria syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Synaptic Ras GTPase activating protein 1- related intellectual disability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Severe intellectual disability, progressive spastic diplegia syndrome |
Interprets |
False |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
| Hereditary cryohydrocytosis with reduced stomatin |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
| Richieri Costa-da Silva syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome |
Interprets |
False |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
| Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
7 |
| Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Macrocephaly, intellectual disability, autism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital muscular dystrophy with intellectual disability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
| X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
| White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |