Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Fatty acyl-CoA reductase 1 deficiency |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
2 |
Congenital insensitivity to pain with severe intellectual disability |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
Pseudoprogeria syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
Severe intellectual disability, progressive spastic diplegia syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
12 |
Severe intellectual disability and progressive spastic paraplegia |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
8 |
Severe oculo-renal-cerebellar syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
11 |
4q25 proximal deletion syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
Lamb Shaffer syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
12p12.1 microdeletion syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
X-linked intellectual disability, hypotonia, movement disorder syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
2 |
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
8 |
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
X-linked intellectual disability, short stature, overweight syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
Baraitser Winter cerebrofrontofacial syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
Menke Hennekam syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
PUM1-associated developmental disability, ataxia, seizure syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
WARS2-related combined oxidative phosphorylation defect |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
2 |
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
2 |
Infantile multisystem neurologic, endocrine, pancreatic disease |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
Adaptive behavior: newborn |
Is a |
True |
Adaptation behaviour |
Inferred relationship |
Some |
|
Child adaptive behaviour: hospitalisation |
Is a |
True |
Adaptation behaviour |
Inferred relationship |
Some |
|
Psychosocial adaptive behavior: life change |
Is a |
True |
Adaptation behaviour |
Inferred relationship |
Some |
|
Adaptive behavior: physical disability |
Is a |
True |
Adaptation behaviour |
Inferred relationship |
Some |
|
Caregiver adaptative behavior: patient institutionalization |
Is a |
True |
Adaptation behaviour |
Inferred relationship |
Some |
|
Acceptance behavior: health status |
Is a |
True |
Adaptation behaviour |
Inferred relationship |
Some |
|
Coping behavior |
Is a |
True |
Adaptation behaviour |
Inferred relationship |
Some |
|
Life closure behaviour |
Is a |
True |
Adaptation behaviour |
Inferred relationship |
Some |
|