| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| FG syndrome type 1 |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
4 |
| Symptomatic form of fragile X syndrome in female carrier |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
4 |
| Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| nudE neurodevelopment protein 1-related microhydranencephaly |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
4 |
| Short stature, developmental delay, congenital heart defect syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Coffin-Lowry syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
5 |
| Fatty acyl-coenzyme A reductase 1 deficiency |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital insensitivity to pain with severe intellectual disability |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
5 |
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
5 |
| Pseudoprogeria syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
7 |
| Severe intellectual disability, progressive spastic diplegia syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
7 |
| Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
5 |
| Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
12 |
| Severe intellectual disability and progressive spastic paraplegia |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
8 |
| Severe oculo-renal-cerebellar syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
11 |
| 4q25 proximal deletion syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
6 |
| Lamb Shaffer syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| 12p12.1 microdeletion syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
5 |
| Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
4 |
| Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
6 |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
6 |
| X-linked intellectual disability, hypotonia, movement disorder syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
2 |
| Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
8 |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
5 |
| X-linked intellectual disability, short stature, overweight syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Baraitser Winter cerebrofrontofacial syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Menke Hennekam syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
4 |
| Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
2 |
| Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
4 |
| Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
4 |
| Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
2 |
| Infantile multisystem neurologic, endocrine, pancreatic disease |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
6 |
| Severe intellectual development disorder without significant impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Mild intellectual development disorder with significant impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Profound intellectual development disorder with impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Mild intellectual development disorder with impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Moderate intellectual development disorder with impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Significant intellectual disability |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Severe intellectual development disorder with impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Severe intellectual development disorder with significant impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Mild intellectual development disorder with minimal impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Intellectual development disorder with minimal impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Mild intellectual development disorder without significant impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Intellectual development disorder with significant impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Severe intellectual development disorder with minimal impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Moderate intellectual development disorder without significant impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Intellectual development disorder without significant impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Profound intellectual development disorder without impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Moderate intellectual development disorder with significant impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Moderate intellectual development disorder with minimal impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Profound intellectual development disorder with minimal impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Intellectual development disorder with impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |
| Profound intellectual development disorder with significant impairment of behaviour |
Interprets |
True |
Adaptation behavior |
Inferred relationship |
Existential restriction modifier |
3 |