Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Trisomy 10p |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Microphthalmia with ankyloblepharon and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Wolf Hirschhorn syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
1 |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Spastic paraplegia, glaucoma, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Microcephalus, glomerulonephritis, marfanoid habitus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Megalocornea with intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Temtamy preaxial brachydactyly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Blepharophimosis, intellectual disability syndrome, Verloes type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Severe intellectual disability and progressive spastic paraplegia |
Has interpretation |
False |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Atypical hypotonia cystinuria syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Synaptic Ras GTPase activating protein 1- related intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Severe intellectual disability, progressive spastic diplegia syndrome |
Has interpretation |
False |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Congenital muscular dystrophy with intellectual disability and severe epilepsy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Hereditary cryohydrocytosis with reduced stomatin |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Richieri Costa-da Silva syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Macrocephaly, intellectual disability, autism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Congenital muscular dystrophy with intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
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 |
4 |
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Muscle eye brain disease with bilateral multicystic leukodystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Hyperekplexia epilepsy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
21q22.11q22.12 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Ankyrin 3 related intellectual disability, sleep disturbance syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
14q32 deletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Mowat-Wilson syndrome due to monosomy 2q22 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
X-linked complicated corpus callosum dysgenesis |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Contracture with ectodermal dysplasia and orofacial cleft syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
9 |
X-linked intellectual disability Brooks type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability hypotonic face syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Angelman syndrome due to maternal monosomy 15q11q13 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Tall stature, intellectual disability, renal anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Early-onset epilepsy, intellectual disability, brain anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Combined oxidative phosphorylation defect type 23 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Infantile inflammatory bowel disease with neurological involvement |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Gabriele-de Vries syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Growth delay, intellectual disability, hepatopathy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Non-specific syndromic intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Witteveen Kolk syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalic cortical malformations, short stature due to rotatin deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Intellectual disability, epilepsy, extrapyramidal syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Seizures, scoliosis, macrocephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Short stature, brachydactyly, obesity, global developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Spastic paraplegia, severe developmental delay, epilepsy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Macrocephaly, intellectual disability, left ventricular non compaction syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Basel Vanagaite Smirin Yosef syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Metopic ridging, ptosis, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Angelman syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Borderline intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Lowe syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Rett's disorder |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Moderate intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |