| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Moderate intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Mild intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Seckel syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Cutis laxa-corneal clouding-oligophrenia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Borjeson-Forssman-Lehmann syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Profound intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Hyperphosphatasemia with intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Bardet-Biedl syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Tetrasomy 12p syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Coffin-Siris syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Fragile X syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Kohlschutter's syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Hennekam lymphangiectasia-lymphedema syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Laurence-Moon syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Gillespie syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| X-linked intellectual disability with marfanoid habitus |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Severe intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Savant syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Myhre syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Renpenning syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Monocarboxylate transporter 8 deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Pitt-Hopkins syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked intellectual developmental disorder Christianson type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked intellectual deficit-dystonia-dysarthria syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked intellectual disability Snyder type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Deafness-dystonia-optic neuronopathy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Fatal X-linked ataxia with deafness and loss of vision |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Calcium/calmodulin-dependent serine protein kinase related intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Progressive epilepsy-intellectual disability syndrome Finnish type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Mowat-Wilson syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Autosomal recessive chorioretinopathy and microcephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Microcephalic primordial dwarfism Alazami type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Microcephalic primordial dwarfism Dauber type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| X-linked cerebral, cerebellar, coloboma syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| 3q27.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Microcephaly, thin corpus callosum, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Optic atrophy, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Intellectual disability, seizures, macrocephaly, obesity syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| 2p13.2 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Developmental delay with autism spectrum disorder and gait instability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| 5p13 microduplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| 11p15.4 microduplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Kagami Ogata syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Alopecia, progressive neurological defect, endocrinopathy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Intellectual disability, short stature, hypertelorism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Hepatic fibrosis, renal cyst, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Pseudoleprechaunism syndrome Patterson type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Grubben, De Cock, Borghgraef syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Facial dysmorphism, cleft palate, loose skin syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Craniofaciofrontodigital syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Cerebrofacioarticular syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Wiedemann Steiner syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Intellectual disability due to nutritional deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Craniodigital syndrome and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Hypotonia, speech impairment, severe cognitive delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Intellectual disability, alacrima, achalasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Intellectual disability, polydactyly, uncombable hair syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Intellectual disability, spasticity, ectrodactyly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Intellectual disability, brachydactyly, Pierre Robin syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Intellectual disability Wolff type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Macrocephaly and developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Malan overgrowth syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Agenesis of corpus callosum and abnormal genitalia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Oro-facial digital syndrome type 14 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
9 |
| Pachygyria, intellectual disability, epilepsy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Intellectual disability Birk-Barel type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Cryptorchidism, arachnodactyly, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Intellectual disability, myopathy, short stature, endocrine defect syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Microcephalic primordial dwarfism Montreal type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Brachydactyly, mesomelia, intellectual disability, heart defect syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Nijmegen breakage syndrome-like disorder |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Epiphyseal dysplasia, hearing loss, dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Diencephalic mesencephalic junction dysplasia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |