Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Bullous dystrophy macular type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability Buenos Aires type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Neurofaciodigitorenal syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
X-linked intellectual disability Brooks type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Caudal appendage deafness syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Weaver Williams syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, cataract, calcified pinna, myopathy syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
X-linked intellectual disability Hedera type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
X-linked intellectual disability Nascimento type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Cortical blindness, intellectual disability, polydactyly syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Osteopenia, intellectual disability, sparse hair syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Brachydactyly and preaxial hallux varus syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Spastic paraplegia with precocious puberty syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Branchial dysplasia, intellectual disability, inguinal hernia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Epilepsy, microcephaly, skeletal dysplasia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Epilepsy telangiectasia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Encephalopathy, intracerebral calcification, retinal degeneration syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Marfanoid habitus with autosomal recessive intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Pseudoprogeria syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Preaxial polydactyly, colobomata, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Microcephalus, digital anomaly, intellectual disability syndrome |
Is a |
False |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Van den Bosch syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Aniridia, renal agenesis, psychomotor retardation syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Thumb stiffness, brachydactyly, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Spastic paraplegia, glaucoma, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Microcephalus, glomerulonephritis, marfanoid habitus syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Megalocornea with intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Grubben, De Cock, Borghgraef syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Facial dysmorphism, cleft palate, loose skin syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Craniofaciofrontodigital syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Cerebrofacioarticular syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Family history of intellectual disability |
Associated finding |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
1 |
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Wiedemann Steiner syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability screening |
Has focus |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual disability due to nutritional deficiency |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Craniodigital syndrome and intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Hypotonia, speech impairment, severe cognitive delay syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, alacrima, achalasia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, polydactyly, uncombable hair syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, spasticity, ectrodactyly syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, brachydactyly, Pierre Robin syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability Wolff type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
X-linked intellectual disability with ataxia and apraxia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Macrocephaly and developmental delay syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Malan overgrowth syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Agenesis of corpus callosum and abnormal genitalia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Oro-facial digital syndrome type 14 |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Pachygyria, intellectual disability, epilepsy syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability Birk-Barel type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Cryptorchidism, arachnodactyly, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, myopathy, short stature, endocrine defect syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Microcephalic primordial dwarfism Montreal type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Nijmegen breakage syndrome-like disorder |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Diencephalic mesencephalic junction dysplasia |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Purine rich element binding protein A syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Tall stature, intellectual disability, facial dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Microcephalic primordial dwarfism Alazami type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive chorioretinopathy and microcephaly syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Microcephalic primordial dwarfism Dauber type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
X-linked cerebral, cerebellar, coloboma syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
5p13 microduplication syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Microcephaly, thin corpus callosum, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, seizures, macrocephaly, obesity syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Optic atrophy, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
2p13.2 microdeletion syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
11p15.4 microduplication syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
3q27.3 microdeletion syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Developmental delay with autism spectrum disorder and gait instability |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|