Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital lamellar cataract |
Is a |
False |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital blue dot cataract |
Is a |
False |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital membranous cataract |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital polar cataract |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital sutural cataract |
Is a |
False |
Congenital cataract |
Inferred relationship |
Some |
|
Rubella cataract (disorder) |
Is a |
False |
Congenital cataract |
Inferred relationship |
Some |
|
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital zonular cataract |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital capsular cataract |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital total cataract |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Embryonal nuclear cataract |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital subtotal cataract |
Is a |
False |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital cortical cataract |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital subcapsular cataract |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital cataract and lens anomalies |
Is a |
False |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital cataract, unspecified |
Is a |
False |
Congenital cataract |
Inferred relationship |
Some |
|
Family history of congenital cataract (situation) |
Associated finding |
False |
Congenital cataract |
Inferred relationship |
Some |
1 |
Family history of congenital cataract (situation) |
Associated finding |
True |
Congenital cataract |
Inferred relationship |
Some |
1 |
Family history of congenital cataract (situation) |
Associated finding |
False |
Congenital cataract |
Inferred relationship |
Some |
1 |
Nance-Horan syndrome (disorder) |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital combined form cataract |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
MEDNIK-Syndrom |
Is a |
False |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital cataract ichthyosis syndrome |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital cataract of left eye (disorder) |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Congenital cataract of right eye |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Cortical and zonular cataract |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Mittendorf's dot (disorder) |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Marinesco-Sjögren syndrome (disorder) |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Coralliform cataract (disorder) |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Hutterite type cataract (disorder) |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Pulverulent cataract (disorder) |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
Lowe syndrome |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital cataract |
Inferred relationship |
Some |
|