Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
GCGR-related hyperglucagonemia

Also known as: MVAH, Mahvash disease, alpha-cell hyperplasia with glucagonemia, nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor, nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour, nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor, nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour

gelatinous drop-like corneal dystrophy

Also known as: CDGDL, Cdgdl, GDCD, GDLD, amyloid corneal dystrophy, Japanese type, amyloidosis corneal, amyloidosis, corneal, corneal amyloidosis, corneal dystrophy, gelatinous drop-like, corneal dystrophy, lattice type 3, gelatinous drop-like corneal dystrophy, lattice corneal dystrophy type 3, lattice corneal dystrophy, type 3, primary familial amyloidosis of the cornea, subepithelial amyloidosis of the cornea

geleophysic dysplasia

Also known as: geleophysic dwarfism, geleophysic dwarfism syndromegeleophysic dwarfism, geleophysic dwarfism syndrome

geleophysic dysplasia 1

Also known as: ADAMTSL2 geleophysic dysplasia, GELEOPHYSIC dysplasia 1, GPHYSD1, Geleophysic dysplasia type 1, geleophysic dysplasia 1, geleophysic dysplasia caused by mutation in ADAMTSL2

geleophysic dysplasia 2

Also known as: FBN1 geleophysic dysplasia, GELEOPHYSIC dysplasia 2, GPHYSD2, Geleophysic dysplasia 2, Geleophysic dysplasia type 2, geleophysic dysplasia caused by mutation in FBN1

Gemignani syndrome

Also known as: spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness, spinocerebellar ataxia-amyotrophy-deafness syndrome

gemistocytic astrocytoma

Also known as: Gemistocytoma, gemistocytic astrocytic tumor, gemistocytic astrocytic tumour, gemistocytic astrocytoma, gemistocytic astrocytoma (morphologic abnormality)

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