Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Histoplasma capsulatum with retinitis |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
4 |
Ocular cryptococcosis (disorder) |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
3 |
Progressive outer retinal necrosis |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
3 |
Parasitic endophthalmitis (disorder) |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
3 |
Meningococcal eye disease |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
3 |
Fungal infection of eye |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
2 |
Cryptococcal endophthalmitis (disorder) |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
3 |
Toxocara endophthalmitis (disorder) |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
3 |
Ocular blastomycosis (disorder) |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
2 |
Cytomegaloviral retinitis |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
4 |
Histoplasmosis with retinitis |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
3 |
Epstein-Barr virus infection of the retina (disorder) |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
3 |
Ocular toxoplasmosis (disorder) |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
4 |
Herpes zoster retinitis (disorder) |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
4 |
Measles keratoconjunctivitis |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
5 |
uvéite liée à la reconstitution immunitaire |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
5 |
Glaucoma caused by silicone oil |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
2 |
SOX2 anophthalmia syndrome |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
2 |
Toxocara chorioretinitis |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
4 |
Ocular toxocariasis |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
2 |
Parasitic eye infection |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
1 |
Ocular toxoplasmosis (disorder) |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
2 |
Toxocara granuloma (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
2 |
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
5 |
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
4 |
A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
4 |
Implantation of prosthetic intraocular lens (procedure) |
Procedure site - Indirect (attribute) |
False |
Eye structure |
Inferred relationship |
Some |
2 |
Secondary piggyback lens implantation (procedure) |
Procedure site - Indirect (attribute) |
False |
Eye structure |
Inferred relationship |
Some |
3 |
insertion bilatérale d'une lentille intraoculaire prothétique |
Procedure site - Indirect (attribute) |
False |
Eye structure |
Inferred relationship |
Some |
3 |
Dyssegmental dysplasia with glaucoma syndrome |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
|
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
3 |
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
2 |
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
10 |
Ophthalmic examination: no abnormality detected |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
1 |
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
8 |
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
3 |
Infection of eye caused by Avian Paramyxovirus 1 (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
1 |
Congenital oculocutaneous hypopigmentation |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
3 |
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
6 |
Glaucoma-sleep apnea syndrome is characterized by sleep apnea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
2 |
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
7 |
Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
5 |
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
5 |
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
3 |
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
3 |
Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
1 |
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
|
Closed injury of eyeball (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
1 |
A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
4 |
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
4 |
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
4 |
A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
4 |
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
6 |
A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
3 |
Penetrating wound of eyeball without foreign body (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
1 |
A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
4 |
Axial displacement of eyeball (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
1 |
Prosthetic eye in situ (finding) |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
7 |
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
7 |
Ocular laceration without prolapse or loss of intraocular tissue |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
1 |
A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
3 |
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
2 |
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
5 |
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
1 |
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
1 |
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
1 |
Demyelination of central nervous system co-occurrent and due to Sjogren disease (disorder) |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
6 |
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
2 |
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
3 |
Deformity of eyeball |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
2 |
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
7 |
Disorder due to insertion of glaucoma drainage device (disorder) |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
1 |
Disorder of eye co-occurrent and due to Marfan syndrome (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
1 |
Disorder of eye caused by Toxoplasma gondii (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
1 |
Eye appearance abnormal |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
1 |
Eye sensation abnormal |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
1 |
Renal coloboma syndrome (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
2 |
Disorder of eye due to type 1 diabetes mellitus (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
2 |
Binasal heteronymous quadrantanopia (finding) |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
1 |
Bitemporal heteronymous quadrantanopia (finding) |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
1 |
Pediatric onset Sjögren syndrome |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
3 |
Repair of penetrating eye injury (procedure) |
Procedure site - Direct (attribute) |
True |
Eye structure |
Inferred relationship |
Some |
1 |
Congenital trigeminal anesthesia is a rare neuro-ophthalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum). |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
3 |
Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia). |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
2 |
Ophthalmic myiasis |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
1 |
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
1 |
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected. |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
2 |
A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
2 |
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
2 |
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
5 |
A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
2 |
A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
2 |
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
1 |
A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
1 |
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
1 |
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
4 |
A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
1 |
A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. |
Finding site |
False |
Eye structure |
Inferred relationship |
Some |
1 |
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. |
Finding site |
True |
Eye structure |
Inferred relationship |
Some |
4 |