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About: pseudohypoparathyroidism type IB     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
type
subClassOf
label
  • pseudohypoparathyroidism type IB (en)
described by
id
  • DOID:0080222
database_cross_reference
  • GARD:10680
  • MESH:C548075
  • OMIM:603233
  • ORDO:94089
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32.
is topic of
is annotatedSource of
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