| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Intellectual disability, alacrima, achalasia syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Intellectual disability, polydactyly, uncombable hair syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| Intellectual disability, spasticity, ectrodactyly syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Intellectual disability Wolff type |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Macrocephaly and developmental delay syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| Malan overgrowth syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| Agenesis of corpus callosum and abnormal genitalia syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Oro-facial digital syndrome type 14 |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
8 |
| Pachygyria, intellectual disability, epilepsy syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
7 |
| Intellectual disability Birk-Barel type |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Cryptorchidism, arachnodactyly, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Intellectual disability, myopathy, short stature, endocrine defect syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| HIVEP2-related intellectual disability |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| Microcephalic primordial dwarfism Montreal type |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
7 |
| Nijmegen breakage syndrome-like disorder (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
7 |
| Diencephalic mesencephalic junction dysplasia (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Purine rich element binding protein A syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| PPP2R5D-related intellectual disability |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Polymicrogyria with optic nerve hypoplasia |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Jawad syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Developmental and speech delay due to SRY-box 5 deficiency (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| 15q overgrowth syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| Autism spectrum disorder due to AUTS2 deficiency |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| White Sutton syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Warburg micro syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| RAB18, member RAS oncogene family deficiency (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| Cyclin-dependent kinase-like 5 deficiency (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability, craniofacioskeletal syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Spondyloepimetaphyseal dysplasia Genevieve type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| Zechi Ceide syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
| CK syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Roifman syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| Intellectual disability with strabismus syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| 9q31.1q31.3 microdeletion syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| 14q24.1q24.3 microdeletion syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| 13q12.3 microdeletion syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
7 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Distal Xq28 microduplication syndrome |
Interprets |
False |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Deafness with onychodystrophy syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
| Ataxia, photosensitivity, short stature syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| Rare non-syndromic intellectual disability (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Piebald trait with neurologic defects syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Alopecia, epilepsy, intellectual disability syndrome Moynahan type |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Blepharophimosis, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Woodhouse Sakati syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
| Goldberg Shprintzen megacolon syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
9 |
| Biemond syndrome type 2 (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Blepharonasofacial malformation syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| BRESEK syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Achalasia microcephaly syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| X-linked intellectual disability Atkin type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| Oro-facial digital syndrome type 9 (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
7 |
| Oro-facial digital syndrome type 11 (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
9 |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| X-linked intellectual disability with ataxia and apraxia syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| X-linked neurodegenerative syndrome Hamel type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Fried syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Seemanova type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Syndromic X-linked intellectual disability type 11 (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability Shrimpton type |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability Siderius type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability Stevenson type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Stocco Dos Santos type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability Stoll type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability Turner type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability Van Esch type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Wilson type (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |