Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP221244.RAh5-RF6eyh4kL8H33YA6dYebVih0U8piqR89gP6DoWzk130_assertion> ?p ?o ?g. }
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- NP221244.RAh5-RF6eyh4kL8H33YA6dYebVih0U8piqR89gP6DoWzk130_assertion type Assertion NP221244.RAh5-RF6eyh4kL8H33YA6dYebVih0U8piqR89gP6DoWzk130_head.
- NP221244.RAh5-RF6eyh4kL8H33YA6dYebVih0U8piqR89gP6DoWzk130_assertion description "[Hypoparathyroidism-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, seizures, and a typical facial dysmorphism, consisting of prominent forehead, deep-set eyes, and abnormal external ears.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP221244.RAh5-RF6eyh4kL8H33YA6dYebVih0U8piqR89gP6DoWzk130_provenance.
- NP221244.RAh5-RF6eyh4kL8H33YA6dYebVih0U8piqR89gP6DoWzk130_assertion evidence source_evidence_literature NP221244.RAh5-RF6eyh4kL8H33YA6dYebVih0U8piqR89gP6DoWzk130_provenance.
- NP221244.RAh5-RF6eyh4kL8H33YA6dYebVih0U8piqR89gP6DoWzk130_assertion SIO_000772 16470743 NP221244.RAh5-RF6eyh4kL8H33YA6dYebVih0U8piqR89gP6DoWzk130_provenance.
- NP221244.RAh5-RF6eyh4kL8H33YA6dYebVih0U8piqR89gP6DoWzk130_assertion wasDerivedFrom befree-20140225 NP221244.RAh5-RF6eyh4kL8H33YA6dYebVih0U8piqR89gP6DoWzk130_provenance.
- NP221244.RAh5-RF6eyh4kL8H33YA6dYebVih0U8piqR89gP6DoWzk130_assertion wasGeneratedBy ECO_0000203 NP221244.RAh5-RF6eyh4kL8H33YA6dYebVih0U8piqR89gP6DoWzk130_provenance.