| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| CNTNAP2-related developmental and epileptic encephalopathy |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| PDE4D haploinsufficiency syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| FG syndrome type 1 (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Symptomatic form of fragile X syndrome in female carrier (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| PYCR2-related microcephaly, progressive leucoencephalopathy |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| NDE1-related microhydranencephaly |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Short stature, developmental delay, congenital heart defect syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Coffin-Lowry syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
1 |
| Congenital insensitivity to pain with severe intellectual disability (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
8 |
| Pseudoprogeria syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
8 |
| Severe intellectual disability and progressive spastic paraplegia |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
9 |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
8 |
| Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
6 |
| Severe oculo-renal-cerebellar syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
9 |
| 4q25 proximal deletion syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| Lamb Shaffer syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| 12p12.1 microdeletion syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| X-linked intellectual disability, hypotonia, movement disorder syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
1 |
| Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
7 |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
4 |
| X-linked intellectual disability, short stature, overweight syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Baraitser Winter cerebrofrontofacial syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Menke Hennekam syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| WARS2-related combined oxidative phosphorylation defect |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
1 |
| Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
1 |
| Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| Craniosynostosis, microretrognathia, severe intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Spondylometaphyseal dysplasia, corneal dystrophy syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
5 |
| Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
3 |
| Primary hypomagnesemia, refractory seizures, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
2 |
| Combined oxidative phosphorylation defect type 39 |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
1 |
| Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Some |
7 |