| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group | 
| 14q32 deletion syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| Mowat-Wilson syndrome due to monosomy 2q22 (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 7 | 
| X-linked complicated corpus callosum dysgenesis (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 10 | 
| X-linked intellectual disability Brooks type (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| X-linked intellectual disability hypotonic face syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Angelman syndrome due to maternal monosomy 15q11q13 (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Tall stature, intellectual disability, renal anomalies syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 6 | 
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 7 | 
| RERE-related neurodevelopmental syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 7 | 
| Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 8 | 
| Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 6 | 
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| Combined oxidative phosphorylation defect type 23 | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 7 | 
| Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 7 | 
| Infantile inflammatory bowel disease with neurological involvement (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Gabriele-de Vries syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Growth delay, intellectual disability, hepatopathy syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Non-specific syndromic intellectual disability | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Witteveen Kolk syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 6 | 
| Intellectual disability, epilepsy, extrapyramidal syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 7 | 
| WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| VPS11-related autosomal recessive hypomyelinating leukodystrophy | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| Seizures, scoliosis, macrocephaly syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 7 | 
| Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 6 | 
| Short stature, brachydactyly, obesity, global developmental delay syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 6 | 
| Spastic paraplegia, severe developmental delay, epilepsy syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 7 | 
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 7 | 
| Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 6 | 
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 6 | 
| Basel Vanagaite Smirin Yosef syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 8 | 
| Metopic ridging, ptosis, facial dysmorphism syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Sanjad Sakati syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 6 | 
| X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 6 | 
| Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Severe oculo-renal-cerebellar syndrome (disorder) | Interprets | False | Adaptation behavior (observable entity) | Inferred relationship | Some | 9 | 
| Fryns Smeets Thiry syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 2 | 
| Progressive cerebello-cerebral atrophy (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 6 | 
| SATB2-associated syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Autosomal dominant deafness with onychodystrophy syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 7 | 
| Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 1 | 
| Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 6 | 
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 2 | 
| Improvement in post-trauma response | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 2 | 
| Cross syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 1 | 
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 9 | 
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 6 | 
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 6 | 
| QRICH1-related intellectual disability, chondrodysplasia syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Keppen Lubinsky syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Pierpont syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| RARS-related autosomal recessive hypomyelinating leucodystrophy | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Prune exopolyphosphatase 1-related neurological syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| 3-methylglutaconic aciduria type 9 | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 2 | 
| Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| 9q33.3q34.11 microdeletion syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| 16p13.2 microdeletion syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| Xq25 microduplication syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| 17q24.2 microdeletion syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| 9q21.13 microdeletion syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 2 | 
| 11q22.2q22.3 microdeletion syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| 19p13.3 microduplication syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| 20q11.2 microdeletion syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| 8q24.3 microdeletion syndrome (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| Megaconial congenital muscular dystrophy | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 5 | 
| CNTNAP2-related developmental and epileptic encephalopathy | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 | 
| PDE4D haploinsufficiency syndrome | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 3 | 
| FG syndrome type 1 (disorder) | Interprets | True | Adaptation behavior (observable entity) | Inferred relationship | Some | 4 |