Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
N syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Non-progressive cerebellar ataxia with intellectual disability (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Phosphoribosylpyrophosphate synthetase superactivity (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Ramos Arroyo syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder) |
Interprets |
False |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
7 |
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Kleefstra syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Infantile choroidocerebral calcification syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Temple Baraitser syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
5-amino-4-imidazole carboxamide ribosiduria (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Bullous dystrophy macular type (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Intellectual disability Buenos Aires type (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Neurofaciodigitorenal syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Caudal appendage deafness syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
8 |
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
8 |
Weaver Williams syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
X-linked intellectual disability Hedera type (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
X-linked intellectual disability Nascimento type (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Osteopenia, intellectual disability, sparse hair syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Brachydactyly and preaxial hallux varus syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Spastic paraplegia with precocious puberty syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
7 |
Epilepsy telangiectasia syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
7 |
Marfanoid habitus with autosomal recessive intellectual disability syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Stimmler syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
8 |
Pseudoprogeria syndrome (disorder) |
Interprets |
False |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
8 |
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
7 |
Van den Bosch syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Aniridia, renal agenesis, psychomotor retardation syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Trigonocephaly C syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
McDonough syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Goniodysgenesis with intellectual disability and short stature syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Harrod syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Early onset parkinsonism and intellectual disability syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Microcephaly with deafness and intellectual disability syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
7 |
Alopecia and intellectual disability syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Female restricted epilepsy with intellectual disability syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
FRAXE intellectual disability syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
L1 syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Trisomy 10p (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Wolf Hirschhorn syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
9 |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Spastic paraplegia, glaucoma, intellectual disability syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
7 |
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Megalocornea with intellectual disability syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
SCARF syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
7 |
Temtamy preaxial brachydactyly syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
7 |
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Severe intellectual disability and progressive spastic paraplegia |
Interprets |
False |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Atypical hypotonia cystinuria syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
SYNGAP1-related intellectual disability |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
Interprets |
False |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Congenital muscular dystrophy with intellectual disability and severe epilepsy |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Hereditary cryohydrocytosis with reduced stomatin |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
7 |
Richieri Costa-da Silva syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Interprets |
False |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
8 |
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Macrocephaly, intellectual disability, autism syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Congenital muscular dystrophy with intellectual disability |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
X-linked intellectual disability due to GRIA3 mutations |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |
Muscle eye brain disease with bilateral multicystic leukodystrophy |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
8 |
Hyperekplexia epilepsy syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
7 |
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
21q22.11q22.12 microdeletion syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
6 |
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
4 |
Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
3 |
14q32 deletion syndrome |
Interprets |
True |
Adaptation behavior (observable entity) |
Inferred relationship |
Some |
5 |