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 |
|