Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
Muscle eye brain disease with bilateral multicystic leukodystrophy |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
7 |
Hyperekplexia epilepsy syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
21q22.11q22.12 microdeletion syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
14q32 deletion syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
X-linked complicated corpus callosum dysgenesis (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
9 |
X-linked intellectual disability Brooks type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
X-linked intellectual disability hypotonic face syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
Angelman syndrome due to maternal monosomy 15q11q13 (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
Tall stature, intellectual disability, renal anomalies syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
RERE-related neurodevelopmental syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
Early-onset epilepsy, intellectual disability, brain anomalies syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
7 |
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
Combined oxidative phosphorylation defect type 23 |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
Infantile inflammatory bowel disease with neurological involvement (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
Gabriele-de Vries syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
GNB5-related intellectual disability, cardiac arrhythmia syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
Growth delay, intellectual disability, hepatopathy syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
Non-specific syndromic intellectual disability |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
Witteveen Kolk syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
Intellectual disability, epilepsy, extrapyramidal syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
VPS11-related autosomal recessive hypomyelinating leukodystrophy |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
Seizures, scoliosis, macrocephaly syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
Short stature, brachydactyly, obesity, global developmental delay syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
Spastic paraplegia, severe developmental delay, epilepsy syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
Basel Vanagaite Smirin Yosef syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
7 |
Metopic ridging, ptosis, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
Severe oculo-renal-cerebellar syndrome (disorder) |
Interprets |
False |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
10 |
Fryns Smeets Thiry syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
Progressive cerebello-cerebral atrophy (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
7 |
SATB2-associated syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
Autosomal dominant deafness with onychodystrophy syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
7 |
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
Cross syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
9 |
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
10 |
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
7 |
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
7 |
QRICH1-related intellectual disability, chondrodysplasia syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
Keppen Lubinsky syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
Pierpont syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
RARS-related autosomal recessive hypomyelinating leucodystrophy |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
Prune exopolyphosphatase 1-related neurological syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
3-methylglutaconic aciduria type 9 |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
7 |
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
9q33.3q34.11 microdeletion syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
16p13.2 microdeletion syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
Xq25 microduplication syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
17q24.2 microdeletion syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
9q21.13 microdeletion syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
11q22.2q22.3 microdeletion syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
19p13.3 microduplication syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
20q11.2 microdeletion syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
8q24.3 microdeletion syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
Megaconial congenital muscular dystrophy |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
CNTNAP2-related developmental and epileptic encephalopathy |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |