Neurocutaneous Syndromes - Ontology Report

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Neurocutaneous Syndromes	go back to main search page
Accession:	DOID:9001734	browse the term
Definition:	A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.
Synonyms:	exact_synonym:	Neurocutaneous Disorder; Neurocutaneous Disorders; Neurocutaneous Syndrome; Neuroectodermal Dysplasia Syndrome; Neuroectodermal Dysplasia Syndromes; Phacomatoses; Phacomatosis; Phakomatoses; Phakomatosis
	primary_id:	MESH:D020752; RDO:0001022
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (151) Strains (1)

Neurocutaneous Syndromes

Symbol

Object Name

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Evidence

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PubMed Reference(s)

RGD Reference(s)

Position

Aldh18a1

aldehyde dehydrogenase 18 family, member A1

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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