Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. |
Finding site |
False |
Lens clear |
Inferred relationship |
Some |
6 |
Coronary age-related cataract (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Punctate age-related cataract (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
2 |
MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
2 |
Phacodonesis (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
2 |
A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
3 |
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
2 |
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
2 |
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
2 |
MEDNIK-Syndrom |
Finding site |
False |
Lens clear |
Inferred relationship |
Some |
1 |
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
2 |
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
4 |
Congenital cataract ichthyosis syndrome |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Micro syndrome is an autosomal recessive disorder characterized by ocular and neurodevelopmental defects and by micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
2 |
A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
A rare genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
2 |
Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
3 |
Congenital cataract |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
3 |
Zonular nonsenile cataract (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Cataract due to pseudohypoparathyroidism (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Cataract due to idiopathic hypoparathyroidism (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Hyperferritinemia cataract syndrome |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Phacoantigenic uveitis |
Finding site |
False |
Lens clear |
Inferred relationship |
Some |
2 |
Lens-induced uveitis (disorder) |
Finding site |
False |
Lens clear |
Inferred relationship |
Some |
2 |
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
4 |
A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral discs, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Marinesco-Sjögren syndrome (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Phacotoxic uveitis |
Finding site |
False |
Lens clear |
Inferred relationship |
Some |
2 |
Early opacity of lens |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Normal lens of eye |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
2 |
Clear lens of eye (finding) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Thickening of lens capsule in aphakia |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
2 |
Aphakic corneal oedema |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Bullous aphakic keratopathy following cataract surgery (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Bilateral uveitis-glaucoma-hyphaema syndrome of eyes |
Finding site |
False |
Lens clear |
Inferred relationship |
Some |
8 |
Localised cataract opacities due to and following traumatic injury |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Coralliform cataract (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Cataract due to drug induced diabetes mellitus (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Hutterite type cataract (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Pulverulent cataract (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Acquired aphakia |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Aphakia due to trauma (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Cataract extraction, insertion of intraocular lens and trabeculectomy |
Procedure site - Indirect (attribute) |
False |
Lens clear |
Inferred relationship |
Some |
1 |
Intracapsular cataract extraction and insertion of intraocular lens |
Procedure site - Indirect (attribute) |
False |
Lens clear |
Inferred relationship |
Some |
2 |
Deposits on intraocular lens obscuring vision |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
4 |
Exchange of intraocular lens |
Procedure site - Indirect (attribute) |
True |
Lens clear |
Inferred relationship |
Some |
3 |
Exchange of intraocular lens |
Procedure site - Direct (attribute) |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Cataract due to degenerative disorder of eye (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Calcified age-related cataract (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Calcified age-related cataract (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
2 |
Cataract due to degenerative disorder |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium). |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Intraocular lens specimen |
Specimen source topography |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Lens specimen (specimen) |
Specimen source topography |
True |
Lens clear |
Inferred relationship |
Some |
1 |
A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
2 |
Lowe syndrome |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
3 |
Cataract due to undernutrition |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Cataract due to dehydration (disorder) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Post cranial irradiation cataract |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Extracapsular extraction of lens by aspiration and irrigation technique |
Procedure site - Direct (attribute) |
True |
Lens clear |
Inferred relationship |
Some |
1 |
A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
An artificial lens replaces a person's natural lens. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
3 |
An artificial lens is implanted without removing a person's natural lens. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
2 |
Anterior chamber intraocular lens present (finding) |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
3 |
A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Intumescent cataract |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
3 |
Shrunken cataract |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
3 |
Hypermature cataract |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
3 |
Hypermature senile cataract |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
2 |
Refractive lensectomy (procedure) |
Procedure site - Direct (attribute) |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Refractive lensectomy with intraocular lens implantation (procedure) |
Procedure site - Direct (attribute) |
True |
Lens clear |
Inferred relationship |
Some |
2 |
Presbyopic refractive lensectomy with intraocular lens implantation |
Procedure site - Direct (attribute) |
True |
Lens clear |
Inferred relationship |
Some |
3 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual disability, global developmental delay with no speech (some patients may have limited speech), inability or difficulty to walk, microcephaly, and early-onset cataract. Additional clinical features may include hypotonia, spasticity, endocrine/metabolic diseases and immunodeficiency with lymphopenia. |
Finding site |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Aspiration of cataract by phacoemulsification |
Procedure site - Direct (attribute) |
False |
Lens clear |
Inferred relationship |
Some |
1 |
Extracapsular extraction of cataract by mechanical fragmentation with aspiration |
Procedure site - Direct (attribute) |
True |
Lens clear |
Inferred relationship |
Some |
2 |
Extraction of cataract by rotoextraction with aspiration by posterior route |
Procedure site - Direct (attribute) |
True |
Lens clear |
Inferred relationship |
Some |
3 |
Extraction of cataract |
Procedure site - Direct (attribute) |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Extracapsular cataract extraction and insertion of intraocular lens |
Procedure site - Direct (attribute) |
True |
Lens clear |
Inferred relationship |
Some |
2 |
Intracapsular cataract extraction (procedure) |
Procedure site - Direct (attribute) |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Extraction of cataract and trabeculectomy (procedure) |
Procedure site - Direct (attribute) |
True |
Lens clear |
Inferred relationship |
Some |
1 |
Removal of secondary membranous cataract with iridectomy |
Procedure site - Direct (attribute) |
True |
Lens clear |
Inferred relationship |
Some |
2 |
Extracapsular extraction of cataract by mechanical fragmentation with aspiration by posterior route |
Procedure site - Direct (attribute) |
True |
Lens clear |
Inferred relationship |
Some |
2 |
Extracapsular extraction of cataract by curette evacuation |
Procedure site - Direct (attribute) |
True |
Lens clear |
Inferred relationship |
Some |
2 |