Experimental Factor Ontology

Last uploaded: April 15, 2024
Preferred Name

neurocutaneous syndrome

Synonyms

neurocutaneous syndrome

syndromes, neurocutaneous

neurocutaneous disorder

syndrome, neurocutaneous

Phakomatoses

neuroectodermal dysplasia syndromes

neuroectodermal dysplasia syndrome

syndrome, neuroectodermal dysplasia

Phacomatosis

neurocutaneous disorders

Phacomatoses

phakomatosis

neuroectodermal dysplasia

syndromes, neuroectodermal dysplasia

Definitions

A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.

ID

http://purl.obolibrary.org/obo/MONDO_0042983

comment

A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category

database_cross_reference

SCTID:78572006

NCIT:C84348

UMLS:C0265316

MESH:D020752

definition

A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C84348

http://linkedlifedata.com/resource/umls/id/C0265316

http://identifiers.org/snomedct/78572006

http://identifiers.org/mesh/D020752

has_exact_synonym

neurocutaneous syndrome

has_related_synonym

syndromes, neurocutaneous

neurocutaneous disorder

syndrome, neurocutaneous

Phakomatoses

neuroectodermal dysplasia syndromes

neuroectodermal dysplasia syndrome

syndrome, neuroectodermal dysplasia

Phacomatosis

neurocutaneous disorders

Phacomatoses

phakomatosis

neuroectodermal dysplasia

syndromes, neuroectodermal dysplasia

id

MONDO:0042983

label

neurocutaneous syndrome

notation

MONDO:0042983

prefLabel

neurocutaneous syndrome

excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0019287

subClassOf

http://www.ebi.ac.uk/efo/EFO_0000618

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