| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Combined oxidative phosphorylation defect type 23 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Infantile inflammatory bowel disease with neurological involvement |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Gabriele-de Vries syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Growth delay, intellectual disability, hepatopathy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Non-specific syndromic intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Witteveen Kolk syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Microcephalic cortical malformations, short stature due to rotatin deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Intellectual disability, epilepsy, extrapyramidal syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Seizures, scoliosis, macrocephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Short stature, brachydactyly, obesity, global developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Spastic paraplegia, severe developmental delay, epilepsy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Basel Vanagaite Smirin Yosef syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Metopic ridging, ptosis, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome |
Has interpretation |
True |
Impaired |
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 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Sanjad Sakati syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Intellectual disability, expressive aphasia, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Severe oculo-renal-cerebellar syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
9 |
| Severe oculo-renal-cerebellar syndrome |
Has interpretation |
False |
Impaired |
Inferred relationship |
Existential restriction modifier |
10 |
| Fryns Smeets Thiry syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| Fryns Smeets Thiry syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Progressive cerebello-cerebral atrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Progressive cerebello-cerebral atrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Special AT-rich sequence-binding protein 2-associated syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Special AT-rich sequence-binding protein 2-associated syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Periprosthetic aortic valve regurgitation |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| Sagliker syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| Behavioral disturbance due to multi-infarct dementia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
1 |
| Right ventricular failure due to disorder of lung |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Right ventricular failure due to disorder of pulmonary circulation |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Right ventricular failure due to right ventricular infarction |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Right ventricular failure due to heart valve disorder |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Renal osteodystrophy due to hyperparathyroidism |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Impaired tissue integrity |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
1 |
| Impairment of integrity of oral mucous membrane |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
1 |
| Autosomal dominant deafness with onychodystrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Autosomal dominant deafness with onychodystrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
1 |
| Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Incomplete induced termination of pregnancy complicated by renal failure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Impaired response to stem cell mobilization procedure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
1 |
| Complete induced termination of pregnancy complicated by renal failure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Impaired ability to manage medication regime |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
1 |
| Fecal incontinence following creation of ileo-anal pouch |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
1 |
| Cardiac tamponade following operative procedure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| Profound hearing loss |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
1 |
| Profound sensorineural hearing loss |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
1 |
| Albinism-deafness syndrome of Tietz |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Psychogenic urinary incontinence |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
1 |
| Cognitive impairment caused by ethanol |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| Cross syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
1 |
| Cross syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
9 |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
9 |
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
10 |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Keppen Lubinsky syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Keppen Lubinsky syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |