Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, with characteristics of retinal atrophy and retinal detachment leading to loss of central vision, then peripheral vision, and eventually blindness. |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Dominant drusen |
Is a |
False |
Hereditary macular dystrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Bull's eye macular dystrophy |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pattern dystrophy of macula |
Is a |
False |
Hereditary macular dystrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
dystrophie vitelliforme |
Is a |
False |
Hereditary macular dystrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Other Bruch's membrane dystrophy |
Is a |
False |
Hereditary macular dystrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
North Carolina macular dystrophy |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fundus flavimaculatus |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Stargardt's disease |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Benign concentric annular macular dystrophy (disorder) |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
5-amino-4-imidazole carboxamide ribosiduria (disorder) |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive bull eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Occult macular dystrophy |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Martinique crinkled retinal pigment epitheliopathy |
Is a |
True |
Hereditary macular dystrophy |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|