About: pachyonychia congenita

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About: pachyonychia congenita Goto Sponge NotDistinct Permalink

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 syndrome nodeID://b50936849
label	pachyonychia congenita
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:0050449
database_cross_reference	GARD:10753 MESH:D053549 NCI:C84986 OMIM:PS167200 ORDO:2309 SNOMEDCT_US_2021_09_01:39427000 UMLS_CUI:C0265334 UMLS_CUI:C1706595 UMLS_CUI:C1721007
has_exact_synonym	Jackson-Lawler Type Pachyonychia Congenita (en) Jadassohn-Lewandowsky Syndrome (en) PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE (en) Pachyonychia Congenita Type 1 (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis in gene mutations that result in changes in keratin.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50936850

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