| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| MOMO syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Laryngeal abductor paralysis with intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Kleefstra syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Infantile choroidocerebral calcification syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Temple Baraitser syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| X-linked spasticity, intellectual disability, epilepsy syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| 5-amino-4-imidazole carboxamide ribosiduria |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Bullous dystrophy macular type |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Intellectual disability Buenos Aires type |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Neurofaciodigitorenal syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| CAMOS syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Caudal appendage deafness syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
8 |
| Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
8 |
| Weaver Williams syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Pfeiffer Palm Teller syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Intellectual disability, cataract, calcified pinna, myopathy syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| X-linked intellectual disability Hedera type |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability Nascimento type |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Cortical blindness, intellectual disability, polydactyly syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Osteopenia, intellectual disability, sparse hair syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Brachydactyly and preaxial hallux varus syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Spastic paraplegia with precocious puberty syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Lambert syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Epilepsy, microcephaly, skeletal dysplasia syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| Epilepsy telangiectasia syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Bonnemann Meinecke Reich syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Stimmler syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
8 |
| Pseudoprogeria syndrome |
Interprets |
False |
Adaptation behaviour |
Inferred relationship |
Some |
8 |
| Preaxial polydactyly, colobomata, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| Van den Bosch syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Aniridia, renal agenesis, psychomotor retardation syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Thumb stiffness, brachydactyly, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| C syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Skeletal dysplasia with epilepsy and short stature syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| McDonough syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| MORM syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| GMS syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Harrod syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Goldblatt Wallis syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Early onset parkinsonism and intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Microcephaly with deafness and intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| Alopecia and intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Urban Rogers Meyer syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Female restricted epilepsy with intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| FRAXE intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| L1 syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Trisomy 10p |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Microphthalmia with ankyloblepharon and intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Wolf Hirschhorn syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
9 |
| Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Spastic paraplegia, glaucoma, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| Microcephalus, glomerulonephritis, marfanoid habitus syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Megalocornea with intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| SCARF syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| Temtamy preaxial brachydactyly syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| Blepharophimosis, intellectual disability syndrome, Verloes type |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Severe intellectual disability and progressive spastic paraplegia |
Interprets |
False |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Atypical hypotonia cystinuria syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Synaptic Ras GTPase activating protein 1- related intellectual disability |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Severe intellectual disability, progressive spastic diplegia syndrome |
Interprets |
False |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Congenital muscular dystrophy with intellectual disability and severe epilepsy |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Hereditary cryohydrocytosis with reduced stomatin |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| Richieri Costa-da Silva syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome |
Interprets |
False |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
8 |
| Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Macrocephaly, intellectual disability, autism syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Congenital muscular dystrophy with intellectual disability |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| X-linked intellectual disability due to GRIA3 mutations |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Muscle eye brain disease with bilateral multicystic leukodystrophy |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
8 |
| Hyperekplexia epilepsy syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| Developmental delay, facial dysmorphism syndrome due to MED13L deficiency |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| 21q22.11q22.12 microdeletion syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
6 |
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| ANK3-related intellectual disability, sleep disturbance syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| 14q32 deletion syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
5 |
| Mowat-Wilson syndrome due to monosomy 2q22 |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
7 |
| X-linked complicated corpus callosum dysgenesis |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
10 |
| X-linked intellectual disability Brooks type |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| X-linked intellectual disability hypotonic face syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |
| Angelman syndrome due to maternal monosomy 15q11q13 |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
4 |
| Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome |
Interprets |
True |
Adaptation behaviour |
Inferred relationship |
Some |
3 |