Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital sclerocornea |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Radiologic opacity |
Associated morphology |
False |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Radiographic radiopacity of tooth |
Associated morphology |
False |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Opacity of bilateral lungs on plain chest X-ray (finding) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Adherent leukoma of left eye (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
5 |
Adherent leukoma of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
9 |
Adherent leukoma of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
7 |
Adherent leukoma of right eye (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
5 |
Vitreous opacity of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Vitreous opacity of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Vitreous opacity of right eye (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Opacity of cornea of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Opacity of cornea of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Opacity of cornea of left eye (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Opacity of cornea of right eye (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Vitreous opacity of left eye (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) |
Associated morphology |
False |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
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. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Bilateral eye brunescent cataract |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Bilateral eye brunescent cataract |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
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. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Cortical age-related cataract of right eye (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
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. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Cataract of posterior subcapsule of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Cataract of posterior subcapsule of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Posterior subcapsular polar senile cataract of right eye |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
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. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
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. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
4 |
Zonular nonsenile cataract (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Intellectual disability with cataract and kyphosis syndrome |
Associated morphology |
False |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital subcapsular cataract |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Cataract of left eye due to and following trauma |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32). |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Cataract of right eye due to and following trauma |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Infantile and/or juvenile cataract |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Congenital cataract of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital cataract of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Congenital cataract ichthyosis syndrome |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Punctate age-related cataract (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
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. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Cataract of posterior subcapsule of right eye (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
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. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital anterior subcapsular polar cataract |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
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. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Cortical age-related cataract of left eye (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Cataract due to pseudohypoparathyroidism (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Brunescent cataract of right eye |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
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. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
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. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Brunescent cataract of left eye |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
4 |
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. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
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. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital combined form cataract |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Bilateral posterior subcapsular polar senile cataract of eyes |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Bilateral posterior subcapsular polar senile cataract of eyes |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Coronary age-related cataract (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital cataract of right eye |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Posterior subcapsular polar senile cataract of left eye |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Cataract of left eye due to diabetes mellitus |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital cataract of left eye (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital cataract |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
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. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Bilateral posterior capsule opacification (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Bilateral posterior capsule opacification (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Diabetic cataract of bilateral eyes |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Diabetic cataract of bilateral eyes |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Right after-cataract not obscuring vision |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
A rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Bilateral posterior capsule opacification not obscuring vision (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Bilateral posterior capsule opacification not obscuring vision (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Cortical nonsenile cataract |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Presenile cataract of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Presenile cataract of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Cortical age-related cataract of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Cortical age-related cataract of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Cataract of posterior subcapsule of left eye (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
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. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Cataract of right eye due to diabetes mellitus |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
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. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
3 |
Congenital posterior subcapsular polar cataract |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Hypermature senile cataract |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Secondary cataract |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Left posterior capsule opacification not obscuring vision (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Cataract due to idiopathic hypoparathyroidism (disorder) |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
2 |
Hyperferritinemia cataract syndrome |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |
Congenital polar cataract |
Associated morphology |
True |
Abnormally opaque structure (morphologic abnormality) |
Inferred relationship |
Some |
1 |