About: Wolf-Hirschhorn syndrome

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About: Wolf-Hirschhorn syndrome Goto Sponge Distinct Permalink

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

OMIM mapping confirmed by DO. [LS].

Attributes	Values
type	Class
subClassOf	chromosomal deletion syndrome
label	Wolf-Hirschhorn syndrome
comment	OMIM mapping confirmed by DO. [LS].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050460
has_alternative_id	DOID:6684
database_cross_reference	GARD:7896 ICD10CM:Q93.3 MESH:D054877 NCI:C35528 OMIM:194190 ORDO:280 SNOMEDCT_US_2021_09_01:17122004 UMLS_CUI:C0796117 UMLS_CUI:C1956097
has_exact_synonym	4p deletion syndrome (en) PITT SYNDROME (en) Pitt-Rogers-Danks Syndrome (en) chromosome 4p16.3 deletion syndrome (en)
has_obo_namespace	disease_ontology
in_subset	DO_FlyBase_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a microdeletion of the short arm of chromosome 4.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50936868

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