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