Variant Term Annotation Report - Rat Genome Database

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VARIANT - TERM ANNOTATION REPORT

RGD ID:	11050927
Species:	Homo sapiens
RGD Object:	Variant
Symbol:	CV223974
Name:	NM_000169.3(GLA):c.640-859C>T

Acc ID:	HP:0001071
Term:	Angiokeratoma corporis diffusum
Definition:	Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation.

Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.

Object Symbol	Qualifier	Evidence	With	Reference	Source	Notes	Original Reference(s)
CV223974		IAGP		8554872	ClinVar	ClinVar Annotator: match by term: Angiokeratoma corporis diffusum	PMID:18560446 PMID:25086909 PMID:28492532

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