Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
FG syndrome type 1 (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Symptomatic form of fragile X syndrome in female carrier (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
PYCR2-related microcephaly, progressive leucoencephalopathy |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
NDE1-related microhydranencephaly |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Short stature, developmental delay, congenital heart defect syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Coffin-Lowry syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
2 |
Congenital insensitivity to pain with severe intellectual disability (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Pseudoprogeria syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
7 |
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
7 |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
12 |
Severe intellectual disability and progressive spastic paraplegia |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
8 |
Severe oculo-renal-cerebellar syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
11 |
4q25 proximal deletion syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Lamb Shaffer syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
12p12.1 microdeletion syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
X-linked intellectual disability, hypotonia, movement disorder syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
2 |
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
8 |
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
X-linked intellectual disability, short stature, overweight syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Baraitser Winter cerebrofrontofacial syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Menke Hennekam syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
WARS2-related combined oxidative phosphorylation defect |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
2 |
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
2 |
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Craniosynostosis, microretrognathia, severe intellectual disability syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Spondylometaphyseal dysplasia, corneal dystrophy syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Combined oxidative phosphorylation defect type 39 |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
2 |
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
8 |
Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
2 |
Clark Baraitser syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Congenital pontocerebellar hypoplasia type 11 (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Congenital pontocerebellar hypoplasia type 14 |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
SMARCA2-related blepharophimosis, intellectual disability syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Microphthalmia with brain atrophy syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
2 |
Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Dysequilibrium syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
AMeD syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
CIMDAG syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
CPE-related Prader-Willi-like syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Intellectual disability, cupped ears syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Intellectual disability, early-onset cataract, microcephaly syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
2 |
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
2 |
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
2p21 microdeletion syndrome without cystinuria (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |