Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Contactin associated protein 2-related developmental and epileptic encephalopathy |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
Encephalopathy due to mitochondrial and peroxisomal fission defect |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
Phosphodiesterase 4D haploinsufficiency syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
FG syndrome type 1 |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
Symptomatic form of fragile X syndrome in female carrier |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
nudE neurodevelopment protein 1-related microhydranencephaly |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
Short stature, developmental delay, congenital heart defect syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Coffin-Lowry syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
Fatty acyl-coenzyme A reductase 1 deficiency |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital insensitivity to pain with severe intellectual disability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
8 |
Pseudoprogeria syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
8 |
Severe intellectual disability and progressive spastic paraplegia |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
9 |
Severe intellectual disability, progressive spastic diplegia syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
8 |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
6 |
Severe oculo-renal-cerebellar syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
9 |
4q25 proximal deletion syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
Lamb Shaffer syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
12p12.1 microdeletion syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
X-linked intellectual disability, hypotonia, movement disorder syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
1 |
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
7 |
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
4 |
X-linked intellectual disability, short stature, overweight syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Baraitser Winter cerebrofrontofacial syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Menke Hennekam syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
1 |
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
3 |
Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
1 |
Infantile multisystem neurologic, endocrine, pancreatic disease |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
5 |
Moderate intellectual development disorder without significant impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Severe intellectual development disorder with impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual development disorder with impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Profound intellectual development disorder with significant impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Profound intellectual development disorder without impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Severe intellectual development disorder with significant impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Mild intellectual development disorder without significant impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Profound intellectual development disorder with minimal impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Mild intellectual development disorder with significant impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Mild intellectual development disorder with impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Moderate intellectual development disorder with significant impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Profound intellectual development disorder with impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual development disorder without significant impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Mild intellectual development disorder with minimal impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Significant intellectual disability |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Moderate intellectual development disorder with minimal impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual development disorder with minimal impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Moderate intellectual development disorder with impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Severe intellectual development disorder with minimal impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual development disorder with significant impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |
Severe intellectual development disorder without significant impairment of behaviour |
Interprets |
True |
Intellectual ability |
Inferred relationship |
Existential restriction modifier |
2 |