Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Ectodermal dysplasia with blindness syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Hypogonadism with mitral valve prolapse and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
Juberg Marsidi syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Radioulnar synostosis with developmental delay and hypotonia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Lipodystrophy, intellectual disability, deafness syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Lowry MacLean syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Intellectual disability, balding, patella luxation, acromicria syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Intellectual disability with cataract and kyphosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Kapur Toriello syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Macrocephaly, short stature, paraplegia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
9 |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Oculopalatocerebral syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Oculocerebrofacial syndrome Kaufman type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Okamoto syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Oro-facial digital syndrome type 10 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Oro-facial digital syndrome type 5 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Oro-facial digital syndrome type 8 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Ossification anomaly with psychomotor developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
Severe X-linked intellectual disability Gustavson type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Congenital cataract with deafness and hypogonadism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Congenital cataract with hypertrichosis and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Intellectual disability, developmental delay, contracture syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Toriello Carey syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Skeletal dysplasia with intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephaly, seizure, intellectual disability, heart disease syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Isodicentric chromosome 15 syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Faciocardiorenal syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Fallot complex with intellectual disability and growth delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Hypotrichosis and intellectual disability syndrome Lopes type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Microbrachycephaly, ptosis, cleft lip syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
N syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Non-progressive cerebellar ataxia with intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Phosphoribosylpyrophosphate synthetase superactivity |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Ramos Arroyo syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Seizures and intellectual disability due to hydroxylysinuria syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Macrocephaly, obesity, mental disability, ocular abnormality syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Laryngeal abductor paralysis with intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Kleefstra syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Infantile choroidocerebral calcification syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Temple Baraitser syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
X-linked spasticity, intellectual disability, epilepsy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
5-amino-4-imidazole carboxamide ribosiduria |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Bullous dystrophy macular type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Intellectual disability Buenos Aires type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Neurofaciodigitorenal syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Caudal appendage deafness syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Weaver Williams syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Intellectual disability, cataract, calcified pinna, myopathy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
X-linked intellectual disability Hedera type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability Nascimento type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Cortical blindness, intellectual disability, polydactyly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Osteopenia, intellectual disability, sparse hair syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Brachydactyly and preaxial hallux varus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Spastic paraplegia with precocious puberty syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Branchial dysplasia, intellectual disability, inguinal hernia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Epilepsy, microcephaly, skeletal dysplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Epilepsy telangiectasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Encephalopathy, intracerebral calcification, retinal degeneration syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Marfanoid habitus with autosomal recessive intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Pseudoprogeria syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
Preaxial polydactyly, colobomata, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Van den Bosch syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Aniridia, renal agenesis, psychomotor retardation syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Thumb stiffness, brachydactyly, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Trigonocephaly C syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Skeletal dysplasia with epilepsy and short stature syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
McDonough syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
Goniodysgenesis with intellectual disability and short stature syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Craniofacial digital and genital anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
Hypospadias and intellectual disability syndrome Goldblatt type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Early onset parkinsonism and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephaly with deafness and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
Alopecia and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Intellectual disability and short stature with hand contracture and genital anomaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
Female restricted epilepsy with intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
FRAXE intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |