Additional Disease Briefs

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formiminoglutamic aciduria

Also known as: Arakawa syndrome 1, FTCD deficiency, Figlu-Uria, Formiminoglutamicaciduria (FIGLU-Uria), formiminoglutamic acidemia, formiminoglutamic aciduria, formiminotransferase cyclodeaminase deficiency, formiminotransferase deficiency, formiminotransferase deficiency syndrome, glutamate formiminotransferase deficiency


fountain syndrome

Also known as: deafness, skeletal dysplasia, lip granuloma, deafness-skeletal dysplasia-coarse face with full lips syndrome, deafness-skeletal dysplasia-lip granuloma syndrome, fountain syndrome, intellectual disability, deafness, skeletal abnormalities, coarse face with full lips, intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips, mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips



foveal hypoplasia – optic nerve decussation defect – anterior segment dysgenesis syndrome

Also known as: FHONDA syndrome, FVH2, foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, foveal hypoplasia 2, foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism, foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis, foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, foveal hypoplasia type 2FHONDA syndrome, FVH2, foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, foveal hypoplasia 2, foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism, foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis, foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, foveal hypoplasia type 2


foveal hypoplasia – optic nerve decussation defect – anterior segment dysgenesis syndrome

Also known as: FHONDA syndrome, FVH2, foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, foveal hypoplasia 2, foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism, foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis, foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, foveal hypoplasia type 2



Fowler syndrome

Also known as: Encephaloclastic proliferative vasculopathy, Fowler syndrome, PVHH, cerebral proliferative glomeruloid vasculopathy, hydranencephaly, fowler type, hydrocephaly/hydranencephaly due to cerebral vasculopathy, proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, proliferative vasculopathy and hydranencephaly/hydrocephaly