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 |