Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Enucleation of eye without implant |
Procedure site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Excision of eye with implant and attachment of muscles |
Procedure site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Specimen from eye obtained by enucleation |
Specimen source topography |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Implantation of inert material in Tenon's capsule with enucleation of eyeball (procedure) |
Procedure site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Enucleation of eyeball with implant into Tenon's capsule (procedure) |
Procedure site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Enucleation of eyeball with insertion of orbital implant (procedure) |
Procedure site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Specimen from retina obtained by enucleation of eye |
Specimen source topography |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Specimen from uvea obtained by enucleation of eye (specimen) |
Specimen source topography |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Structure of inferior temporal quadrant of eye proper (body structure) |
partie de |
False |
œil entier |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Superior nasal quadrant of eye proper |
partie de |
False |
œil entier |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Structure of inferior nasal quadrant of eye proper (body structure) |
partie de |
False |
œil entier |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
Superior temporal quadrant of eye proper |
partie de |
False |
œil entier |
Additional relationship (core metadata concept) |
Existential restriction modifier (core metadata concept) |
|
œil droit entier |
Is a |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
œil gauche entier |
Is a |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Macrophthalmos |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cross syndrome |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Dysplasia of eye |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Simple microphthalmos |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mikrophthalmus in Verbindung mit anderen Anomalien des Auges UND/ODER der Augenanhangsgebilde |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lenz microphthalmia syndrome (disorder) |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microphthalmos |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hypoplasia of eye |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lenz microphthalmia syndrome (disorder) |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Simple microphthalmos |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dysplasia of eye |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microphthalmos |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cross syndrome |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hypoplasia of eye |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypoplasia of eye |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Mikrophthalmus in Verbindung mit anderen Anomalien des Auges UND/ODER der Augenanhangsgebilde |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Agenesis of eye |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anophthalmos |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Anophthalmos |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Oculocerebral dysplasia syndrome |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterised by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localised to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder) |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microphthalmia with brain atrophy syndrome (disorder) |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
A rare X-linked, syndromic eye disorder characterised by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare X-linked, syndromic eye disorder characterised by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Anophthalmos |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microphthalmia with brain atrophy syndrome (disorder) |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrophthalmos |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterised by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localised to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrosomia, microphthalmia, cleft palate syndrome |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital cystic eyeball |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Traumatic enucleation of eye |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microphthalmos due to branchio-oculo-facial syndrome |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microphthalmos due to Fryns syndrome (disorder) |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microphthalmos due to Delleman syndrome (disorder) |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Colobomatous macrophthalmia with microcornea syndrome (disorder) |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital anophthalmos with orbital implant |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Syndromic nanophthalmos due to Kenny-Caffey syndrome (disorder) |
Finding site |
False |
œil entier |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |