About: nodeID://b50938685

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

Attributes	Values
type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007645
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	hypoparathyroidism-retardation-dysmorphism syndrome
annotatedTarget	A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in TBCE on chromosome 1q42.3.
database_cross_reference	url:https://www.ncbi.nlm.nih.gov/pubmed/15645691 url:https://www.ncbi.nlm.nih.gov/pubmed/24339556
is topic of	Human Disease Ontology

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