| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Optic nerve edema, splenomegaly syndrome (disorder) |
est un(e) (attribut) |
False |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| RAB18, member RAS oncogene family deficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Macrosomia, microphthalmia, cleft palate syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Intellectual disability with strabismus syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Autosomal dominant rhegmatogenous retinal detachment (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Rare isolated myopia |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| syndrome de cataracte congénitale-surdité-retard de développement sévère |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Foveal hypoplasia with presenile cataract syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Ectopia lentis et pupillae (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Multisystemic smooth muscle dysfunction syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Tremor, nystagmus, duodenal ulcer syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Harlequin ichthyosis |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Ataxia with tapetoretinal degeneration syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Alacrima |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Ichthyosis, short stature, brachydactyly, microspherophakia syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome |
est un(e) (attribut) |
False |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Muscle eye brain disease with bilateral multicystic leukodystrophy |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Axenfeld anomaly |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Saldino-Mainzer dysplasia |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Inherited optic neuropathy |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Meretoja syndrome (disorder) |
est un(e) (attribut) |
False |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Lowe syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| syndrome de Marinesco-Sjögren |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Distichiasis-lymphedema syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Autosomal dominant progressive external ophthalmoplegia (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Autosomal recessive progressive external ophthalmoplegia |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Diffuse mesangial sclerosis with ocular abnormalities |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Renal dysplasia and retinal aplasia |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Coralliform cataract (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Combined deficiency of sialidase AND beta galactosidase |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Rieger syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Microcephaly, congenital cataract, psoriasiform dermatitis syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Autosomal recessive dysgenesis of anterior segment of eye |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Familial congenital palsy of trochlear nerve (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Severe oculo-renal-cerebellar syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Eye defects, arachnodactyly, cardiopathy syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Cerebellar ataxia with oculomotor apraxia type 4 (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| LAMA5-related multisystemic syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Severe myopia, generalized joint laxity, short stature syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Ocular motor apraxia Cogan type (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Duane retraction syndrome with congenital deafness |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Familial congenital nasolacrimal duct obstruction (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Autosomal dominant cystoid macular edema |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Albinism |
est un(e) (attribut) |
False |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| syndrome de Kearns-Sayre (trouble) |
est un(e) (attribut) |
False |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Osteogenesis imperfecta with blue sclerae |
est un(e) (attribut) |
False |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Gyrate atrophy of the choroid and retina |
est un(e) (attribut) |
False |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Hereditary retinal dystrophy |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| iritis goutteuse |
est un(e) (attribut) |
False |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Alstrom syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Hereditary choroidal dystrophy |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Oculopharyngeal muscular dystrophy |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Atrophia bulborum hereditaria |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Cross syndrome |
est un(e) (attribut) |
False |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Hereditary optic atrophy |
est un(e) (attribut) |
False |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| albinisme oculaire (trouble) |
est un(e) (attribut) |
False |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Oguchi's disease |
est un(e) (attribut) |
False |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Corneal fragility keratoglobus, blue sclerae AND joint hypermobility |
est un(e) (attribut) |
False |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Osteogenesis imperfecta with blue sclerae AND normal teeth |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Hereditary corneal dystrophy |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| achromatopsie (trouble) |
est un(e) (attribut) |
False |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Xanthoma of eyelid |
est un(e) (attribut) |
False |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| albinisme oculaire (trouble) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| albinoïdisme |
est un(e) (attribut) |
False |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Oculocutaneous albinism |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Lenz microphthalmia syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Nance-Horan syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
| Peters plus syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of the visual system |
Inferred relationship |
Some |
|
FHIR