| 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 |