About: X-linked dominant hypophosphatemic rickets

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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	X-linked dominant disease rickets nodeID://b50936846
label	X-linked dominant hypophosphatemic rickets
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:0050445
database_cross_reference	MESH:D053098 NCI:C85234 OMIM:307800 UMLS_CUI:C0733682 UMLS_CUI:C1845168 UMLS_CUI:C3540852
has_exact_synonym	Hypophosphatemia, Vitamin D-Resistant Rickets (en) Vitamin D-Resistant Rickets, X-Linked (en) X-linked hypophosphatemia (en) hypophosphatemic rickets X-linked dominant (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A rickets has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50936847

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