About: orofaciodigital syndrome I

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

Attributes	Values
type	Class
subClassOf	X-linked dominant disease orofaciodigital syndrome nodeID://b50938635
label	orofaciodigital syndrome I
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060316
created_by	emitraka
creation_date	2015-03-09T17:15:07Z
database_cross_reference	ICD10CM:Q87.0 MESH:D009958 NCI:C75481 OMIM:311200 ORDO:2750 SNOMEDCT_US_2021_09_01:1779005 SNOMEDCT_US_2021_09_01:403773005 SNOMEDCT_US_2021_09_01:52868006 UMLS_CUI:C0026363 UMLS_CUI:C0029294 UMLS_CUI:C1510460
has_exact_synonym	Papillon-Leage-Psaume syndrome (en) orofaciodigital syndrome 1 (en) orofaciodigital syndrome type I (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938636

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