About: piebaldism

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal dominant disease integumentary system disease nodeID://b50951697
label	piebaldism
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:3263
database_cross_reference	GARD:4344 ICD10CM:E70.39 MESH:D016116 NCI:C85009 OMIM:172800 ORDO:2884 SNOMEDCT_US_2021_09_01:718122005 UMLS_CUI:C0080024
has_exact_synonym	PIEBALD TRAIT (en) Partial albinism (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in either KIT or SNAI2 on chromosome 4q12 or 8q11.21, respectively.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50951698

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