Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Kagami Ogata syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Alopecia, progressive neurological defect, endocrinopathy syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Hepatic fibrosis, renal cyst, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, short stature, hypertelorism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Polymicrogyria with optic nerve hypoplasia |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Pseudoleprechaunism syndrome Patterson type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Jawad syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Developmental and speech delay due to SRY-box 5 deficiency |
Is a |
False |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
15q overgrowth syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
RAB18, member RAS oncogene family deficiency |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
White Sutton syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Cyclin-dependent kinase-like 5 deficiency |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
X-linked intellectual disability, craniofacioskeletal syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Spondyloepimetaphyseal dysplasia Genevieve type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Zechi Ceide syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
CK syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Xylosyltransferase 1 congenital disorder of glycosylation |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, facial dysmorphism, hand anomalies syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Roifman syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability with strabismus syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
9q31.1q31.3 microdeletion syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
13q12.3 microdeletion syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
14q24.1q24.3 microdeletion syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome |
Is a |
False |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Distal Xq28 microduplication syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Rare non-syndromic intellectual disability |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Pitt Hopkins-like syndrome |
Is a |
False |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Ataxia, photosensitivity, short stature syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Deafness with onychodystrophy syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Piebald trait with neurologic defects syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, severe speech delay, mild dysmorphism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Temtamy preaxial brachydactyly syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Blepharophimosis, intellectual disability syndrome, Verloes type |
Is a |
False |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Atypical hypotonia cystinuria syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Synaptic Ras GTPase activating protein 1- related intellectual disability |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Hereditary cryohydrocytosis with reduced stomatin |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Congenital muscular dystrophy with intellectual disability and severe epilepsy |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Richieri Costa-da Silva syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion |
Is a |
False |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Macrocephaly, intellectual disability, autism syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Congenital muscular dystrophy with intellectual disability |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
Is a |
False |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Muscle eye brain disease with bilateral multicystic leukodystrophy |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Hyperekplexia epilepsy syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
21q22.11q22.12 microdeletion syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Ankyrin 3 related intellectual disability, sleep disturbance syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Fatal X-linked ataxia with deafness and loss of vision |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Cross syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Hennekam lymphangiectasia-lymphedema syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Gillespie syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Seckel syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Fragile X syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Angelman syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Lowe syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Alopecia, epilepsy, intellectual disability syndrome Moynahan type |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Blepharophimosis, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Diabetes, hypogonadism, deafness, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Myhre syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
14q32 deletion syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
X-linked intellectual disability hypotonic face syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Tetrasomy 12p syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
N syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome |
Is a |
True |
Intellectual disability |
Inferred relationship |
Existential restriction modifier |
|