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 |