| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Tall stature, intellectual disability, renal anomalies syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Deafness-dystonia-optic neuronopathy syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Monocarboxylate transporter 8 deficiency |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| X-linked intellectual developmental disorder Christianson type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| X-linked neurodegenerative syndrome Hamel type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Combined oxidative phosphorylation defect type 23 |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Metopic ridging, ptosis, facial dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Growth delay, intellectual disability, hepatopathy syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Infantile inflammatory bowel disease with neurological involvement |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Gabriele-de Vries syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Non-specific syndromic intellectual disability |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Witteveen Kolk syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Microcephalic cortical malformations, short stature due to rotatin deficiency |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, epilepsy, extrapyramidal syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Seizures, scoliosis, macrocephaly syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Short stature, brachydactyly, obesity, global developmental delay syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Spastic paraplegia, severe developmental delay, epilepsy syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Basel Vanagaite Smirin Yosef syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Sanjad Sakati syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Severe oculo-renal-cerebellar syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Progressive cerebello-cerebral atrophy |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Special AT-rich sequence-binding protein 2-associated syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Pierpont syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Prune exopolyphosphatase 1-related neurological syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| 9q33.3q34.11 microdeletion syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| 16p13.2 microdeletion syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Xq25 microduplication syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| 17q24.2 microdeletion syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| 9q21.13 microdeletion syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| 11q22.2q22.3 microdeletion syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| 19p13.3 microduplication syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| 20q11.2 microdeletion syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| 8q24.3 microdeletion syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Megaconial congenital muscular dystrophy |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Contactin associated protein 2-related developmental and epileptic encephalopathy |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Encephalopathy due to mitochondrial and peroxisomal fission defect |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Phosphodiesterase 4D haploinsufficiency syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| FG syndrome type 1 |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| nudE neurodevelopment protein 1-related microhydranencephaly |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Short stature, developmental delay, congenital heart defect syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Coffin-Lowry syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| 4q25 proximal deletion syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Lamb Shaffer syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
| X-linked intellectual disability, hypotonia, movement disorder syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|