Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Intellectual disability Buenos Aires type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Neurofaciodigitorenal syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Caudal appendage deafness syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
Weaver Williams syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Intellectual disability, cataract, calcified pinna, myopathy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
X-linked intellectual disability Hedera type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability Nascimento type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Cortical blindness, intellectual disability, polydactyly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Osteopenia, intellectual disability, sparse hair syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Brachydactyly and preaxial hallux varus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Spastic paraplegia with precocious puberty syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Branchial dysplasia, intellectual disability, inguinal hernia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Epilepsy, microcephaly, skeletal dysplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Epilepsy telangiectasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Encephalopathy, intracerebral calcification, retinal degeneration syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Marfanoid habitus with autosomal recessive intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
Pseudoprogeria syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
Preaxial polydactyly, colobomata, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Van den Bosch syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Aniridia, renal agenesis, psychomotor retardation syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Thumb stiffness, brachydactyly, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Trigonocephaly C syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Skeletal dysplasia with epilepsy and short stature syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
McDonough syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Goniodysgenesis with intellectual disability and short stature syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Craniofacial digital and genital anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Hypospadias and intellectual disability syndrome Goldblatt type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Early onset parkinsonism and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Microcephaly with deafness and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Alopecia and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Intellectual disability and short stature with hand contracture and genital anomaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Female restricted epilepsy with intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
FRAXE intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Trisomy 10p |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Microphthalmia with ankyloblepharon and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Wolf Hirschhorn syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
9 |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Spastic paraplegia, glaucoma, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Microcephalus, glomerulonephritis, marfanoid habitus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Megalocornea with intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Temtamy preaxial brachydactyly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Blepharophimosis, intellectual disability syndrome, Verloes type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Severe intellectual disability and progressive spastic paraplegia |
Has interpretation |
False |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Atypical hypotonia cystinuria syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Synaptic Ras GTPase activating protein 1- related intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Severe intellectual disability, progressive spastic diplegia syndrome |
Has interpretation |
False |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Congenital muscular dystrophy with intellectual disability and severe epilepsy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Hereditary cryohydrocytosis with reduced stomatin |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Richieri Costa-da Silva syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Macrocephaly, intellectual disability, autism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Congenital muscular dystrophy with intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Muscle eye brain disease with bilateral multicystic leukodystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
Hyperekplexia epilepsy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
21q22.11q22.12 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Ankyrin 3 related intellectual disability, sleep disturbance syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
14q32 deletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Mowat-Wilson syndrome due to monosomy 2q22 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
X-linked complicated corpus callosum dysgenesis |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Contracture with ectodermal dysplasia and orofacial cleft syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
10 |
X-linked intellectual disability Brooks type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability hypotonic face syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Angelman syndrome due to maternal monosomy 15q11q13 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Tall stature, intellectual disability, renal anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Early-onset epilepsy, intellectual disability, brain anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |